Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.45504448_45504449delCA2654917900COL18A1,SLC19A1c.3300_3301del (p.Lys1101ArgfsTer?)
c.2760_2761del (p.Lys921ArgfsTer?)
c.801_802del (p.Lys268ArgfsTer?)
c.4005_4006del (p.Lys1336ArgfsTer?)
c.498-5836_498-5835del
c.1294-5836_1294-5835del (n.1294-5836_1294-5835del)
c.1585-1479_1585-1478del (n.1585-1479_1585-1478del)
 gnomAD v4
21g.45504448G>ACA512687132COL18A1,SLC19A1c.3300G>A (p.Gln1100=)
c.2760G>A (p.Gln920=)
c.801G>A (p.Gln267=)
c.4005G>A (p.Gln1335=)
c.498-5836C>T
c.1294-5836C>T (n.1294-5836C>T)
c.1585-1479C>T (n.1585-1479C>T)
21g.45504448G>CCA410499155COL18A1,SLC19A1c.3300G>C (p.Gln1100His)
c.2760G>C (p.Gln920His)
c.801G>C (p.Gln267His)
c.4005G>C (p.Gln1335His)
c.498-5836C>G
c.1294-5836C>G (n.1294-5836C>G)
c.1585-1479C>G (n.1585-1479C>G)
21g.45504448G>TCA410499156COL18A1,SLC19A1c.3300G>T (p.Gln1100His)
c.2760G>T (p.Gln920His)
c.801G>T (p.Gln267His)
c.4005G>T (p.Gln1335His)
c.498-5836C>A
c.1294-5836C>A (n.1294-5836C>A)
c.1585-1479C>A (n.1585-1479C>A)
21g.45504449A>CCA410499157COL18A1,SLC19A1c.3301A>C (p.Lys1101Gln)
c.2761A>C (p.Lys921Gln)
c.802A>C (p.Lys268Gln)
c.4006A>C (p.Lys1336Gln)
c.498-5837T>G
c.1294-5837T>G (n.1294-5837T>G)
c.1585-1480T>G (n.1585-1480T>G)
21g.45504449A>GCA410499159COL18A1,SLC19A1c.3301A>G (p.Lys1101Glu)
c.2761A>G (p.Lys921Glu)
c.802A>G (p.Lys268Glu)
c.4006A>G (p.Lys1336Glu)
c.498-5837T>C
c.1294-5837T>C (n.1294-5837T>C)
c.1585-1480T>C (n.1585-1480T>C)
21g.45504449A>TCA410499158COL18A1,SLC19A1c.3301A>T (p.Lys1101Ter)
c.2761A>T (p.Lys921Ter)
c.802A>T (p.Lys268Ter)
c.4006A>T (p.Lys1336Ter)
c.498-5837T>A
c.1294-5837T>A (n.1294-5837T>A)
c.1585-1480T>A (n.1585-1480T>A)
 gnomAD v4
21g.45504450A>CCA410499160COL18A1,SLC19A1c.3302A>C (p.Lys1101Thr)
c.2762A>C (p.Lys921Thr)
c.803A>C (p.Lys268Thr)
c.4007A>C (p.Lys1336Thr)
c.498-5838T>G
c.1294-5838T>G (n.1294-5838T>G)
c.1585-1481T>G (n.1585-1481T>G)
21g.45504450A>GCA410499161COL18A1,SLC19A1c.3302A>G (p.Lys1101Arg)
c.2762A>G (p.Lys921Arg)
c.803A>G (p.Lys268Arg)
c.4007A>G (p.Lys1336Arg)
c.498-5838T>C
c.1294-5838T>C (n.1294-5838T>C)
c.1585-1481T>C (n.1585-1481T>C)
 gnomAD v4
21g.45504450A>TCA410499162COL18A1,SLC19A1c.3302A>T (p.Lys1101Ile)
c.2762A>T (p.Lys921Ile)
c.803A>T (p.Lys268Ile)
c.4007A>T (p.Lys1336Ile)
c.498-5838T>A
c.1294-5838T>A (n.1294-5838T>A)
c.1585-1481T>A (n.1585-1481T>A)
21g.45504450_45504451insTCA2654917905COL18A1,SLC19A1c.3302_3303insT (p.Lys1101AsnfsTer?)
c.2762_2763insT (p.Lys921AsnfsTer?)
c.803_804insT (p.Lys268AsnfsTer?)
c.4007_4008insT (p.Lys1336AsnfsTer?)
c.498-5839_498-5838insA
c.1294-5839_1294-5838insA (n.1294-5839_1294-5838insA)
c.1585-1482_1585-1481insA (n.1585-1482_1585-1481insA)
 gnomAD v4
21g.45504451A>CCA410499163COL18A1,SLC19A1c.3303A>C (p.Lys1101Asn)
c.2763A>C (p.Lys921Asn)
c.804A>C (p.Lys268Asn)
c.4008A>C (p.Lys1336Asn)
c.498-5839T>G
c.1294-5839T>G (n.1294-5839T>G)
c.1585-1482T>G (n.1585-1482T>G)
 gnomAD v4
21g.45504451A>GCA512687133COL18A1,SLC19A1c.3303A>G (p.Lys1101=)
c.2763A>G (p.Lys921=)
c.804A>G (p.Lys268=)
c.4008A>G (p.Lys1336=)
c.498-5839T>C
c.1294-5839T>C (n.1294-5839T>C)
c.1585-1482T>C (n.1585-1482T>C)
21g.45504451A>TCA410499164COL18A1,SLC19A1c.3303A>T (p.Lys1101Asn)
c.2763A>T (p.Lys921Asn)
c.804A>T (p.Lys268Asn)
c.4008A>T (p.Lys1336Asn)
c.498-5839T>A
c.1294-5839T>A (n.1294-5839T>A)
c.1585-1482T>A (n.1585-1482T>A)
21g.45504452G>ACA410499165COL18A1,SLC19A1c.3304G>A (p.Gly1102Ser)
c.2764G>A (p.Gly922Ser)
c.805G>A (p.Gly269Ser)
c.4009G>A (p.Gly1337Ser)
c.498-5840C>T
c.1294-5840C>T (n.1294-5840C>T)
c.1585-1483C>T (n.1585-1483C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45504452G>CCA410499166COL18A1,SLC19A1c.3304G>C (p.Gly1102Arg)
c.2764G>C (p.Gly922Arg)
c.805G>C (p.Gly269Arg)
c.4009G>C (p.Gly1337Arg)
c.498-5840C>G
c.1294-5840C>G (n.1294-5840C>G)
c.1585-1483C>G (n.1585-1483C>G)
21g.45504452G=CA2392190677COL18A1,SLC19A1c.3304G= (p.Gly1102=)
c.2764G= (p.Gly922=)
c.805G= (p.Gly269=)
c.4009G= (p.Gly1337=)
c.498-5840C=
c.1294-5840C= (n.1294-5840C=)
c.1585-1483C= (n.1585-1483C=)
21g.45504452G>TCA410499167COL18A1,SLC19A1c.3304G>T (p.Gly1102Cys)
c.2764G>T (p.Gly922Cys)
c.805G>T (p.Gly269Cys)
c.4009G>T (p.Gly1337Cys)
c.498-5840C>A
c.1294-5840C>A (n.1294-5840C>A)
c.1585-1483C>A (n.1585-1483C>A)
21g.45504453delCA2654917907COL18A1,SLC19A1c.3305del (p.Gly1102AlafsTer?)
c.2765del (p.Gly922AlafsTer?)
c.806del (p.Gly269AlafsTer?)
c.4010del (p.Gly1337AlafsTer?)
c.498-5840del
c.1294-5840del (n.1294-5840del)
c.1585-1483del (n.1585-1483del)
 gnomAD v4
21g.45504453G>ACA410499168COL18A1,SLC19A1c.3305G>A (p.Gly1102Asp)
c.2765G>A (p.Gly922Asp)
c.806G>A (p.Gly269Asp)
c.4010G>A (p.Gly1337Asp)
c.498-5841C>T
c.1294-5841C>T (n.1294-5841C>T)
c.1585-1484C>T (n.1585-1484C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45504453G>CCA410499169COL18A1,SLC19A1c.3305G>C (p.Gly1102Ala)
c.2765G>C (p.Gly922Ala)
c.806G>C (p.Gly269Ala)
c.4010G>C (p.Gly1337Ala)
c.498-5841C>G
c.1294-5841C>G (n.1294-5841C>G)
c.1585-1484C>G (n.1585-1484C>G)
21g.45504453G=CA2392190678COL18A1,SLC19A1c.3305G= (p.Gly1102=)
c.2765G= (p.Gly922=)
c.806G= (p.Gly269=)
c.4010G= (p.Gly1337=)
c.498-5841C=
c.1294-5841C= (n.1294-5841C=)
c.1585-1484C= (n.1585-1484C=)
21g.45504453G>TCA410499170COL18A1,SLC19A1c.3305G>T (p.Gly1102Val)
c.2765G>T (p.Gly922Val)
c.806G>T (p.Gly269Val)
c.4010G>T (p.Gly1337Val)
c.498-5841C>A
c.1294-5841C>A (n.1294-5841C>A)
c.1585-1484C>A (n.1585-1484C>A)
21g.45504454C>ACA512687134COL18A1,SLC19A1c.3306C>A (p.Gly1102=)
c.2766C>A (p.Gly922=)
c.807C>A (p.Gly269=)
c.4011C>A (p.Gly1337=)
c.498-5842G>T
c.1294-5842G>T (n.1294-5842G>T)
c.1585-1485G>T (n.1585-1485G>T)
 gnomAD v4
21g.45504454C=CA2392190679COL18A1,SLC19A1c.3306C= (p.Gly1102=)
c.2766C= (p.Gly922=)
c.807C= (p.Gly269=)
c.4011C= (p.Gly1337=)
c.498-5842G=
c.1294-5842G= (n.1294-5842G=)
c.1585-1485G= (n.1585-1485G=)
21g.45504454C>GCA512687135COL18A1,SLC19A1c.3306C>G (p.Gly1102=)
c.2766C>G (p.Gly922=)
c.807C>G (p.Gly269=)
c.4011C>G (p.Gly1337=)
c.498-5842G>C
c.1294-5842G>C (n.1294-5842G>C)
c.1585-1485G>C (n.1585-1485G>C)
 dbSNP gnomAD v3 gnomAD v4
21g.45504454C>TCA10067448COL18A1,SLC19A1c.3306C>T (p.Gly1102=)
c.2766C>T (p.Gly922=)
c.807C>T (p.Gly269=)
c.4011C>T (p.Gly1337=)
c.498-5842G>A
c.1294-5842G>A (n.1294-5842G>A)
c.1585-1485G>A (n.1585-1485G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504455G>ACA10067449COL18A1,SLC19A1c.3307G>A (p.Glu1103Lys)
c.2767G>A (p.Glu923Lys)
c.808G>A (p.Glu270Lys)
c.4012G>A (p.Glu1338Lys)
c.498-5843C>T
c.1294-5843C>T (n.1294-5843C>T)
c.1585-1486C>T (n.1585-1486C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504455G>CCA410499171COL18A1,SLC19A1c.3307G>C (p.Glu1103Gln)
c.2767G>C (p.Glu923Gln)
c.808G>C (p.Glu270Gln)
c.4012G>C (p.Glu1338Gln)
c.498-5843C>G
c.1294-5843C>G (n.1294-5843C>G)
c.1585-1486C>G (n.1585-1486C>G)
21g.45504455G=CA2392190680COL18A1,SLC19A1c.3307G= (p.Glu1103=)
c.2767G= (p.Glu923=)
c.808G= (p.Glu270=)
c.4012G= (p.Glu1338=)
c.498-5843C=
c.1294-5843C= (n.1294-5843C=)
c.1585-1486C= (n.1585-1486C=)
21g.45504455G>TCA410499172COL18A1,SLC19A1c.3307G>T (p.Glu1103Ter)
c.2767G>T (p.Glu923Ter)
c.808G>T (p.Glu270Ter)
c.4012G>T (p.Glu1338Ter)
c.498-5843C>A
c.1294-5843C>A (n.1294-5843C>A)
c.1585-1486C>A (n.1585-1486C>A)
 gnomAD v4
21g.45504456A=CA2392190681COL18A1,SLC19A1c.3308A= (p.Glu1103=)
c.2768A= (p.Glu923=)
c.809A= (p.Glu270=)
c.4013A= (p.Glu1338=)
c.498-5844T=
c.1294-5844T= (n.1294-5844T=)
c.1585-1487T= (n.1585-1487T=)
21g.45504456A>CCA410499173COL18A1,SLC19A1c.3308A>C (p.Glu1103Ala)
c.2768A>C (p.Glu923Ala)
c.809A>C (p.Glu270Ala)
c.4013A>C (p.Glu1338Ala)
c.498-5844T>G
c.1294-5844T>G (n.1294-5844T>G)
c.1585-1487T>G (n.1585-1487T>G)
21g.45504456A>GCA321921211COL18A1,SLC19A1c.3308A>G (p.Glu1103Gly)
c.2768A>G (p.Glu923Gly)
c.809A>G (p.Glu270Gly)
c.4013A>G (p.Glu1338Gly)
c.498-5844T>C
c.1294-5844T>C (n.1294-5844T>C)
c.1585-1487T>C (n.1585-1487T>C)
 ClinVar dbSNP gnomAD v4
21g.45504456A>TCA410499174COL18A1,SLC19A1c.3308A>T (p.Glu1103Val)
c.2768A>T (p.Glu923Val)
c.809A>T (p.Glu270Val)
c.4013A>T (p.Glu1338Val)
c.498-5844T>A
c.1294-5844T>A (n.1294-5844T>A)
c.1585-1487T>A (n.1585-1487T>A)
21g.45504456_45504457insTCA2654917924COL18A1,SLC19A1c.3308_3309insT (p.Glu1103AspfsTer?)
c.2768_2769insT (p.Glu923AspfsTer?)
c.809_810insT (p.Glu270AspfsTer?)
c.4013_4014insT (p.Glu1338AspfsTer?)
c.498-5845_498-5844insA
c.1294-5845_1294-5844insA (n.1294-5845_1294-5844insA)
c.1585-1488_1585-1487insA (n.1585-1488_1585-1487insA)
 gnomAD v4
21g.45504457A>CCA410499175COL18A1,SLC19A1c.3309A>C (p.Glu1103Asp)
c.2769A>C (p.Glu923Asp)
c.810A>C (p.Glu270Asp)
c.4014A>C (p.Glu1338Asp)
c.498-5845T>G
c.1294-5845T>G (n.1294-5845T>G)
c.1585-1488T>G (n.1585-1488T>G)
 gnomAD v4
21g.45504457A>GCA512687136COL18A1,SLC19A1c.3309A>G (p.Glu1103=)
c.2769A>G (p.Glu923=)
c.810A>G (p.Glu270=)
c.4014A>G (p.Glu1338=)
c.498-5845T>C
c.1294-5845T>C (n.1294-5845T>C)
c.1585-1488T>C (n.1585-1488T>C)
21g.45504457A>TCA410499176COL18A1,SLC19A1c.3309A>T (p.Glu1103Asp)
c.2769A>T (p.Glu923Asp)
c.810A>T (p.Glu270Asp)
c.4014A>T (p.Glu1338Asp)
c.498-5845T>A
c.1294-5845T>A (n.1294-5845T>A)
c.1585-1488T>A (n.1585-1488T>A)
21g.45504458A>CCA512687137COL18A1,SLC19A1c.3310A>C (p.Arg1104=)
c.2770A>C (p.Arg924=)
c.811A>C (p.Arg271=)
c.4015A>C (p.Arg1339=)
c.498-5846T>G
c.1294-5846T>G (n.1294-5846T>G)
c.1585-1489T>G (n.1585-1489T>G)
21g.45504458A>GCA410499177COL18A1,SLC19A1c.3310A>G (p.Arg1104Gly)
c.2770A>G (p.Arg924Gly)
c.811A>G (p.Arg271Gly)
c.4015A>G (p.Arg1339Gly)
c.498-5846T>C
c.1294-5846T>C (n.1294-5846T>C)
c.1585-1489T>C (n.1585-1489T>C)
 gnomAD v4
21g.45504458A>TCA410499178COL18A1,SLC19A1c.3310A>T (p.Arg1104Trp)
c.2770A>T (p.Arg924Trp)
c.811A>T (p.Arg271Trp)
c.4015A>T (p.Arg1339Trp)
c.498-5846T>A
c.1294-5846T>A (n.1294-5846T>A)
c.1585-1489T>A (n.1585-1489T>A)
21g.45504458_45504459delinsAGCA2392190682COL18A1,SLC19A1c.3310_3311delinsAG (p.Arg1104=)
c.2770_2771delinsAG (p.Arg924=)
c.811_812delinsAG (p.Arg271=)
c.4015_4016delinsAG (p.Arg1339=)
c.498-5847_498-5846delinsCT
c.1294-5847_1294-5846delinsCT (n.1294-5847_1294-5846delinsCT)
c.1585-1490_1585-1489delinsCT (n.1585-1490_1585-1489delinsCT)
21g.45504459G>ACA410499181COL18A1,SLC19A1c.3311G>A (p.Arg1104Lys)
c.2771G>A (p.Arg924Lys)
c.812G>A (p.Arg271Lys)
c.4016G>A (p.Arg1339Lys)
c.498-5847C>T
c.1294-5847C>T (n.1294-5847C>T)
c.1585-1490C>T (n.1585-1490C>T)
 ClinVar dbSNP
21g.45504459G>CCA410499180COL18A1,SLC19A1c.3311G>C (p.Arg1104Thr)
c.2771G>C (p.Arg924Thr)
c.812G>C (p.Arg271Thr)
c.4016G>C (p.Arg1339Thr)
c.498-5847C>G
c.1294-5847C>G (n.1294-5847C>G)
c.1585-1490C>G (n.1585-1490C>G)
 dbSNP gnomAD v4
21g.45504459G=CA2392190683COL18A1,SLC19A1c.3311G= (p.Arg1104=)
c.2771G= (p.Arg924=)
c.812G= (p.Arg271=)
c.4016G= (p.Arg1339=)
c.498-5847C=
c.1294-5847C= (n.1294-5847C=)
c.1585-1490C= (n.1585-1490C=)
21g.45504459G>TCA410499179COL18A1,SLC19A1c.3311G>T (p.Arg1104Met)
c.2771G>T (p.Arg924Met)
c.812G>T (p.Arg271Met)
c.4016G>T (p.Arg1339Met)
c.498-5847C>A
c.1294-5847C>A (n.1294-5847C>A)
c.1585-1490C>A (n.1585-1490C>A)
21g.45504464dupCA10067451COL18A1,SLC19A1c.3316dup (p.Glu1106GlyfsTer?)
c.2776dup (p.Glu926GlyfsTer?)
c.817dup (p.Glu273GlyfsTer?)
c.4021dup (p.Glu1341GlyfsTer?)
c.498-5847dup
c.1294-5847dup (n.1294-5847dup)
c.1585-1490dup (n.1585-1490dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.45504464delCA10067450COL18A1,SLC19A1c.3316del (p.Glu1106SerfsTer?)
c.2776del (p.Glu926SerfsTer?)
c.817del (p.Glu273SerfsTer?)
c.4021del (p.Glu1341SerfsTer?)
c.498-5847del
c.1294-5847del (n.1294-5847del)
c.1585-1490del (n.1585-1490del)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45504460G>ACA10067452COL18A1,SLC19A1c.3312G>A (p.Arg1104=)
c.2772G>A (p.Arg924=)
c.813G>A (p.Arg271=)
c.4017G>A (p.Arg1339=)
c.498-5848C>T
c.1294-5848C>T (n.1294-5848C>T)
c.1585-1491C>T (n.1585-1491C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504460G>CCA10067453COL18A1,SLC19A1c.3312G>C (p.Arg1104Ser)
c.2772G>C (p.Arg924Ser)
c.813G>C (p.Arg271Ser)
c.4017G>C (p.Arg1339Ser)
c.498-5848C>G
c.1294-5848C>G (n.1294-5848C>G)
c.1585-1491C>G (n.1585-1491C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504460G=CA2392190684COL18A1,SLC19A1c.3312G= (p.Arg1104=)
c.2772G= (p.Arg924=)
c.813G= (p.Arg271=)
c.4017G= (p.Arg1339=)
c.498-5848C=
c.1294-5848C= (n.1294-5848C=)
c.1585-1491C= (n.1585-1491C=)
21g.45504460G>TCA10067454COL18A1,SLC19A1c.3312G>T (p.Arg1104Ser)
c.2772G>T (p.Arg924Ser)
c.813G>T (p.Arg271Ser)
c.4017G>T (p.Arg1339Ser)
c.498-5848C>A
c.1294-5848C>A (n.1294-5848C>A)
c.1585-1491C>A (n.1585-1491C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504461G>ACA410499182COL18A1,SLC19A1c.3313G>A (p.Gly1105Arg)
c.2773G>A (p.Gly925Arg)
c.814G>A (p.Gly272Arg)
c.4018G>A (p.Gly1340Arg)
c.498-5849C>T
c.1294-5849C>T (n.1294-5849C>T)
c.1585-1492C>T (n.1585-1492C>T)
21g.45504461G>CCA410499183COL18A1,SLC19A1c.3313G>C (p.Gly1105Arg)
c.2773G>C (p.Gly925Arg)
c.814G>C (p.Gly272Arg)
c.4018G>C (p.Gly1340Arg)
c.498-5849C>G
c.1294-5849C>G (n.1294-5849C>G)
c.1585-1492C>G (n.1585-1492C>G)
21g.45504461G>TCA410499184COL18A1,SLC19A1c.3313G>T (p.Gly1105Trp)
c.2773G>T (p.Gly925Trp)
c.814G>T (p.Gly272Trp)
c.4018G>T (p.Gly1340Trp)
c.498-5849C>A
c.1294-5849C>A (n.1294-5849C>A)
c.1585-1492C>A (n.1585-1492C>A)
21g.45504462G>ACA10067455COL18A1,SLC19A1c.3314G>A (p.Gly1105Glu)
c.2774G>A (p.Gly925Glu)
c.815G>A (p.Gly272Glu)
c.4019G>A (p.Gly1340Glu)
c.498-5850C>T
c.1294-5850C>T (n.1294-5850C>T)
c.1585-1493C>T (n.1585-1493C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.45504462G>CCA410499186COL18A1,SLC19A1c.3314G>C (p.Gly1105Ala)
c.2774G>C (p.Gly925Ala)
c.815G>C (p.Gly272Ala)
c.4019G>C (p.Gly1340Ala)
c.498-5850C>G
c.1294-5850C>G (n.1294-5850C>G)
c.1585-1493C>G (n.1585-1493C>G)
21g.45504462G=CA2392190685COL18A1,SLC19A1c.3314G= (p.Gly1105=)
c.2774G= (p.Gly925=)
c.815G= (p.Gly272=)
c.4019G= (p.Gly1340=)
c.498-5850C=
c.1294-5850C= (n.1294-5850C=)
c.1585-1493C= (n.1585-1493C=)
21g.45504462G>TCA410499185COL18A1,SLC19A1c.3314G>T (p.Gly1105Val)
c.2774G>T (p.Gly925Val)
c.815G>T (p.Gly272Val)
c.4019G>T (p.Gly1340Val)
c.498-5850C>A
c.1294-5850C>A (n.1294-5850C>A)
c.1585-1493C>A (n.1585-1493C>A)
21g.45504462_45504463insACA2654917961COL18A1,SLC19A1c.3314_3315insA (p.Glu1106GlyfsTer?)
c.2774_2775insA (p.Glu926GlyfsTer?)
c.815_816insA (p.Glu273GlyfsTer?)
c.4019_4020insA (p.Glu1341GlyfsTer?)
c.498-5851_498-5850insT
c.1294-5851_1294-5850insT (n.1294-5851_1294-5850insT)
c.1585-1494_1585-1493insT (n.1585-1494_1585-1493insT)
 gnomAD v4
21g.45504463G>ACA512687138COL18A1,SLC19A1c.3315G>A (p.Gly1105=)
c.2775G>A (p.Gly925=)
c.816G>A (p.Gly272=)
c.4020G>A (p.Gly1340=)
c.498-5851C>T
c.1294-5851C>T (n.1294-5851C>T)
c.1585-1494C>T (n.1585-1494C>T)
 dbSNP gnomAD v2 gnomAD v4
21g.45504463G>CCA10067456COL18A1,SLC19A1c.3315G>C (p.Gly1105=)
c.2775G>C (p.Gly925=)
c.816G>C (p.Gly272=)
c.4020G>C (p.Gly1340=)
c.498-5851C>G
c.1294-5851C>G (n.1294-5851C>G)
c.1585-1494C>G (n.1585-1494C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45504463G=CA2392190686COL18A1,SLC19A1c.3315G= (p.Gly1105=)
c.2775G= (p.Gly925=)
c.816G= (p.Gly272=)
c.4020G= (p.Gly1340=)
c.498-5851C=
c.1294-5851C= (n.1294-5851C=)
c.1585-1494C= (n.1585-1494C=)
21g.45504463G>TCA10067457COL18A1,SLC19A1c.3315G>T (p.Gly1105=)
c.2775G>T (p.Gly925=)
c.816G>T (p.Gly272=)
c.4020G>T (p.Gly1340=)
c.498-5851C>A
c.1294-5851C>A (n.1294-5851C>A)
c.1585-1494C>A (n.1585-1494C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504464G>ACA410499187COL18A1,SLC19A1c.3316G>A (p.Glu1106Lys)
c.2776G>A (p.Glu926Lys)
c.817G>A (p.Glu273Lys)
c.4021G>A (p.Glu1341Lys)
c.498-5852C>T
c.1294-5852C>T (n.1294-5852C>T)
c.1585-1495C>T (n.1585-1495C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.45504464G>CCA410499188COL18A1,SLC19A1c.3316G>C (p.Glu1106Gln)
c.2776G>C (p.Glu926Gln)
c.817G>C (p.Glu273Gln)
c.4021G>C (p.Glu1341Gln)
c.498-5852C>G
c.1294-5852C>G (n.1294-5852C>G)
c.1585-1495C>G (n.1585-1495C>G)
21g.45504464G=CA2392190687COL18A1,SLC19A1c.3316G= (p.Glu1106=)
c.2776G= (p.Glu926=)
c.817G= (p.Glu273=)
c.4021G= (p.Glu1341=)
c.498-5852C=
c.1294-5852C= (n.1294-5852C=)
c.1585-1495C= (n.1585-1495C=)
21g.45504464G>TCA410499189COL18A1,SLC19A1c.3316G>T (p.Glu1106Ter)
c.2776G>T (p.Glu926Ter)
c.817G>T (p.Glu273Ter)
c.4021G>T (p.Glu1341Ter)
c.498-5852C>A
c.1294-5852C>A (n.1294-5852C>A)
c.1585-1495C>A (n.1585-1495C>A)
21g.45504465A=CA2392190688COL18A1,SLC19A1c.3317A= (p.Glu1106=)
c.2777A= (p.Glu926=)
c.818A= (p.Glu273=)
c.4022A= (p.Glu1341=)
c.498-5853T=
c.1294-5853T= (n.1294-5853T=)
c.1585-1496T= (n.1585-1496T=)
21g.45504465A>CCA410499190COL18A1,SLC19A1c.3317A>C (p.Glu1106Ala)
c.2777A>C (p.Glu926Ala)
c.818A>C (p.Glu273Ala)
c.4022A>C (p.Glu1341Ala)
c.498-5853T>G
c.1294-5853T>G (n.1294-5853T>G)
c.1585-1496T>G (n.1585-1496T>G)
 dbSNP gnomAD v2 gnomAD v4
21g.45504465A>GCA410499191COL18A1,SLC19A1c.3317A>G (p.Glu1106Gly)
c.2777A>G (p.Glu926Gly)
c.818A>G (p.Glu273Gly)
c.4022A>G (p.Glu1341Gly)
c.498-5853T>C
c.1294-5853T>C (n.1294-5853T>C)
c.1585-1496T>C (n.1585-1496T>C)
21g.45504465A>TCA410499192COL18A1,SLC19A1c.3317A>T (p.Glu1106Val)
c.2777A>T (p.Glu926Val)
c.818A>T (p.Glu273Val)
c.4022A>T (p.Glu1341Val)
c.498-5853T>A
c.1294-5853T>A (n.1294-5853T>A)
c.1585-1496T>A (n.1585-1496T>A)
21g.45504466G>ACA10067458COL18A1,SLC19A1c.3318G>A (p.Glu1106=)
c.2778G>A (p.Glu926=)
c.819G>A (p.Glu273=)
c.4023G>A (p.Glu1341=)
c.498-5854C>T
c.1294-5854C>T (n.1294-5854C>T)
c.1585-1497C>T (n.1585-1497C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45504466G>CCA410499193COL18A1,SLC19A1c.3318G>C (p.Glu1106Asp)
c.2778G>C (p.Glu926Asp)
c.819G>C (p.Glu273Asp)
c.4023G>C (p.Glu1341Asp)
c.498-5854C>G
c.1294-5854C>G (n.1294-5854C>G)
c.1585-1497C>G (n.1585-1497C>G)
21g.45504466G=CA2392190689COL18A1,SLC19A1c.3318G= (p.Glu1106=)
c.2778G= (p.Glu926=)
c.819G= (p.Glu273=)
c.4023G= (p.Glu1341=)
c.498-5854C=
c.1294-5854C= (n.1294-5854C=)
c.1585-1497C= (n.1585-1497C=)
21g.45504466G>TCA410499194COL18A1,SLC19A1c.3318G>T (p.Glu1106Asp)
c.2778G>T (p.Glu926Asp)
c.819G>T (p.Glu273Asp)
c.4023G>T (p.Glu1341Asp)
c.498-5854C>A
c.1294-5854C>A (n.1294-5854C>A)
c.1585-1497C>A (n.1585-1497C>A)
 gnomAD v4
21g.45504467_45504470delCA2577627016COL18A1,SLC19A1c.3319_3322del (p.Pro1107GlyfsTer?)
c.2779_2782del (p.Pro927GlyfsTer?)
c.820_823del (p.Pro274GlyfsTer?)
c.4024_4027del (p.Pro1342GlyfsTer?)
c.498-5857_498-5854del
c.1294-5857_1294-5854del (n.1294-5857_1294-5854del)
c.1585-1500_1585-1497del (n.1585-1500_1585-1497del)
 gnomAD v4
21g.45504467C>ACA410499195COL18A1,SLC19A1c.3319C>A (p.Pro1107Thr)
c.2779C>A (p.Pro927Thr)
c.820C>A (p.Pro274Thr)
c.4024C>A (p.Pro1342Thr)
c.498-5855G>T
c.1294-5855G>T (n.1294-5855G>T)
c.1585-1498G>T (n.1585-1498G>T)
21g.45504467C=CA2392190690COL18A1,SLC19A1c.3319C= (p.Pro1107=)
c.2779C= (p.Pro927=)
c.820C= (p.Pro274=)
c.4024C= (p.Pro1342=)
c.498-5855G=
c.1294-5855G= (n.1294-5855G=)
c.1585-1498G= (n.1585-1498G=)
21g.45504467C>GCA10067459COL18A1,SLC19A1c.3319C>G (p.Pro1107Ala)
c.2779C>G (p.Pro927Ala)
c.820C>G (p.Pro274Ala)
c.4024C>G (p.Pro1342Ala)
c.498-5855G>C
c.1294-5855G>C (n.1294-5855G>C)
c.1585-1498G>C (n.1585-1498G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504467C>TCA410499196COL18A1,SLC19A1c.3319C>T (p.Pro1107Ser)
c.2779C>T (p.Pro927Ser)
c.820C>T (p.Pro274Ser)
c.4024C>T (p.Pro1342Ser)
c.498-5855G>A
c.1294-5855G>A (n.1294-5855G>A)
c.1585-1498G>A (n.1585-1498G>A)
 gnomAD v4
21g.45504469dupCA749787590COL18A1,SLC19A1c.3321dup (p.Gly1108ArgfsTer?)
c.2781dup (p.Gly928ArgfsTer?)
c.822dup (p.Gly275ArgfsTer?)
c.4026dup (p.Gly1343ArgfsTer?)
c.498-5855dup
c.1294-5855dup (n.1294-5855dup)
c.1585-1498dup (n.1585-1498dup)
 ClinVar dbSNP
21g.45504468C>ACA410499197COL18A1,SLC19A1c.3320C>A (p.Pro1107His)
c.2780C>A (p.Pro927His)
c.821C>A (p.Pro274His)
c.4025C>A (p.Pro1342His)
c.498-5856G>T
c.1294-5856G>T (n.1294-5856G>T)
c.1585-1499G>T (n.1585-1499G>T)
21g.45504468C=CA2392190691COL18A1,SLC19A1c.3320C= (p.Pro1107=)
c.2780C= (p.Pro927=)
c.821C= (p.Pro274=)
c.4025C= (p.Pro1342=)
c.498-5856G=
c.1294-5856G= (n.1294-5856G=)
c.1585-1499G= (n.1585-1499G=)
21g.45504468C>GCA410499198COL18A1,SLC19A1c.3320C>G (p.Pro1107Arg)
c.2780C>G (p.Pro927Arg)
c.821C>G (p.Pro274Arg)
c.4025C>G (p.Pro1342Arg)
c.498-5856G>C
c.1294-5856G>C (n.1294-5856G>C)
c.1585-1499G>C (n.1585-1499G>C)
 gnomAD v4
21g.45504468C>TCA10067461COL18A1,SLC19A1c.3320C>T (p.Pro1107Leu)
c.2780C>T (p.Pro927Leu)
c.821C>T (p.Pro274Leu)
c.4025C>T (p.Pro1342Leu)
c.498-5856G>A
c.1294-5856G>A (n.1294-5856G>A)
c.1585-1499G>A (n.1585-1499G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45504468_45504469insTCA10067460COL18A1,SLC19A1c.3320_3321insT (p.Gly1108ArgfsTer?)
c.2780_2781insT (p.Gly928ArgfsTer?)
c.821_822insT (p.Gly275ArgfsTer?)
c.4025_4026insT (p.Gly1343ArgfsTer?)
c.498-5857_498-5856insA
c.1294-5857_1294-5856insA (n.1294-5857_1294-5856insA)
c.1585-1500_1585-1499insA (n.1585-1500_1585-1499insA)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.45504469C>ACA512687139COL18A1,SLC19A1c.3321C>A (p.Pro1107=)
c.2781C>A (p.Pro927=)
c.822C>A (p.Pro274=)
c.4026C>A (p.Pro1342=)
c.498-5857G>T
c.1294-5857G>T (n.1294-5857G>T)
c.1585-1500G>T (n.1585-1500G>T)
 gnomAD v4
21g.45504469C=CA2392190692COL18A1,SLC19A1c.3321C= (p.Pro1107=)
c.2781C= (p.Pro927=)
c.822C= (p.Pro274=)
c.4026C= (p.Pro1342=)
c.498-5857G=
c.1294-5857G= (n.1294-5857G=)
c.1585-1500G= (n.1585-1500G=)
21g.45504469C>GCA10067463COL18A1,SLC19A1c.3321C>G (p.Pro1107=)
c.2781C>G (p.Pro927=)
c.822C>G (p.Pro274=)
c.4026C>G (p.Pro1342=)
c.498-5857G>C
c.1294-5857G>C (n.1294-5857G>C)
c.1585-1500G>C (n.1585-1500G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.45504469C>TCA10067462COL18A1,SLC19A1c.3321C>T (p.Pro1107=)
c.2781C>T (p.Pro927=)
c.822C>T (p.Pro274=)
c.4026C>T (p.Pro1342=)
c.498-5857G>A
c.1294-5857G>A (n.1294-5857G>A)
c.1585-1500G>A (n.1585-1500G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504469_45504470delinsCGCA2392190693COL18A1,SLC19A1c.3321_3322delinsCG (p.Pro1107=)
c.2781_2782delinsCG (p.Pro927=)
c.822_823delinsCG (p.Pro274=)
c.4026_4027delinsCG (p.Pro1342=)
c.498-5858_498-5857delinsCG
c.1294-5858_1294-5857delinsCG (n.1294-5858_1294-5857delinsCG)
c.1585-1501_1585-1500delinsCG (n.1585-1501_1585-1500delinsCG)
21g.45504470G>ACA10067465COL18A1,SLC19A1c.3322G>A (p.Gly1108Arg)
c.2782G>A (p.Gly928Arg)
c.823G>A (p.Gly275Arg)
c.4027G>A (p.Gly1343Arg)
c.498-5858C>T
c.1294-5858C>T (n.1294-5858C>T)
c.1585-1501C>T (n.1585-1501C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504470G>CCA10067464COL18A1,SLC19A1c.3322G>C (p.Gly1108Arg)
c.2782G>C (p.Gly928Arg)
c.823G>C (p.Gly275Arg)
c.4027G>C (p.Gly1343Arg)
c.498-5858C>G
c.1294-5858C>G (n.1294-5858C>G)
c.1585-1501C>G (n.1585-1501C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504470G=CA2392190694COL18A1,SLC19A1c.3322G= (p.Gly1108=)
c.2782G= (p.Gly928=)
c.823G= (p.Gly275=)
c.4027G= (p.Gly1343=)
c.498-5858C=
c.1294-5858C= (n.1294-5858C=)
c.1585-1501C= (n.1585-1501C=)
21g.45504470G>TCA410499199COL18A1,SLC19A1c.3322G>T (p.Gly1108Trp)
c.2782G>T (p.Gly928Trp)
c.823G>T (p.Gly275Trp)
c.4027G>T (p.Gly1343Trp)
c.498-5858C>A
c.1294-5858C>A (n.1294-5858C>A)
c.1585-1501C>A (n.1585-1501C>A)
21g.45504474dupCA2573157796COL18A1,SLC19A1c.3326dup (p.Gly1110ArgfsTer?)
c.2786dup (p.Gly930ArgfsTer?)
c.827dup (p.Gly277ArgfsTer?)
c.4031dup (p.Gly1345ArgfsTer?)
c.498-5858dup
c.1294-5858dup (n.1294-5858dup)
c.1585-1501dup (n.1585-1501dup)
 ClinVar dbSNP gnomAD v4
21g.45504474delCA638497335COL18A1,SLC19A1c.3326del (p.Gly1109AlafsTer?)
c.2786del (p.Gly929AlafsTer?)
c.827del (p.Gly276AlafsTer?)
c.4031del (p.Gly1344AlafsTer?)
c.498-5858del
c.1294-5858del (n.1294-5858del)
c.1585-1501del (n.1585-1501del)
 dbSNP gnomAD v2 gnomAD v4
21g.45504471G>ACA410499200COL18A1,SLC19A1c.3323G>A (p.Gly1108Glu)
c.2783G>A (p.Gly928Glu)
c.824G>A (p.Gly275Glu)
c.4028G>A (p.Gly1343Glu)
c.498-5859C>T
c.1294-5859C>T (n.1294-5859C>T)
c.1585-1502C>T (n.1585-1502C>T)
 gnomAD v4
21g.45504471G>CCA410499201COL18A1,SLC19A1c.3323G>C (p.Gly1108Ala)
c.2783G>C (p.Gly928Ala)
c.824G>C (p.Gly275Ala)
c.4028G>C (p.Gly1343Ala)
c.498-5859C>G
c.1294-5859C>G (n.1294-5859C>G)
c.1585-1502C>G (n.1585-1502C>G)
21g.45504471G>TCA410499202COL18A1,SLC19A1c.3323G>T (p.Gly1108Val)
c.2783G>T (p.Gly928Val)
c.824G>T (p.Gly275Val)
c.4028G>T (p.Gly1343Val)
c.498-5859C>A
c.1294-5859C>A (n.1294-5859C>A)
c.1585-1502C>A (n.1585-1502C>A)
21g.45504472G>ACA10067466COL18A1,SLC19A1c.3324G>A (p.Gly1108=)
c.2784G>A (p.Gly928=)
c.825G>A (p.Gly275=)
c.4029G>A (p.Gly1343=)
c.498-5860C>T
c.1294-5860C>T (n.1294-5860C>T)
c.1585-1503C>T (n.1585-1503C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.45504472G>CCA512687141COL18A1,SLC19A1c.3324G>C (p.Gly1108=)
c.2784G>C (p.Gly928=)
c.825G>C (p.Gly275=)
c.4029G>C (p.Gly1343=)
c.498-5860C>G
c.1294-5860C>G (n.1294-5860C>G)
c.1585-1503C>G (n.1585-1503C>G)
 gnomAD v4
21g.45504472G=CA2392190695COL18A1,SLC19A1c.3324G= (p.Gly1108=)
c.2784G= (p.Gly928=)
c.825G= (p.Gly275=)
c.4029G= (p.Gly1343=)
c.498-5860C=
c.1294-5860C= (n.1294-5860C=)
c.1585-1503C= (n.1585-1503C=)
21g.45504472G>TCA512687140COL18A1,SLC19A1c.3324G>T (p.Gly1108=)
c.2784G>T (p.Gly928=)
c.825G>T (p.Gly275=)
c.4029G>T (p.Gly1343=)
c.498-5860C>A
c.1294-5860C>A (n.1294-5860C>A)
c.1585-1503C>A (n.1585-1503C>A)
21g.45504473G>ACA10067467COL18A1,SLC19A1c.3325G>A (p.Gly1109Ser)
c.2785G>A (p.Gly929Ser)
c.826G>A (p.Gly276Ser)
c.4030G>A (p.Gly1344Ser)
c.498-5861C>T
c.1294-5861C>T (n.1294-5861C>T)
c.1585-1504C>T (n.1585-1504C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504473G>CCA410499204COL18A1,SLC19A1c.3325G>C (p.Gly1109Arg)
c.2785G>C (p.Gly929Arg)
c.826G>C (p.Gly276Arg)
c.4030G>C (p.Gly1344Arg)
c.498-5861C>G
c.1294-5861C>G (n.1294-5861C>G)
c.1585-1504C>G (n.1585-1504C>G)
21g.45504473G=CA2392190696COL18A1,SLC19A1c.3325G= (p.Gly1109=)
c.2785G= (p.Gly929=)
c.826G= (p.Gly276=)
c.4030G= (p.Gly1344=)
c.498-5861C=
c.1294-5861C= (n.1294-5861C=)
c.1585-1504C= (n.1585-1504C=)
21g.45504473G>TCA410499203COL18A1,SLC19A1c.3325G>T (p.Gly1109Cys)
c.2785G>T (p.Gly929Cys)
c.826G>T (p.Gly276Cys)
c.4030G>T (p.Gly1344Cys)
c.498-5861C>A
c.1294-5861C>A (n.1294-5861C>A)
c.1585-1504C>A (n.1585-1504C>A)
 gnomAD v4
21g.45504474G>ACA10067468COL18A1,SLC19A1c.3326G>A (p.Gly1109Asp)
c.2786G>A (p.Gly929Asp)
c.827G>A (p.Gly276Asp)
c.4031G>A (p.Gly1344Asp)
c.498-5862C>T
c.1294-5862C>T (n.1294-5862C>T)
c.1585-1505C>T (n.1585-1505C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.45504474G>CCA410499205COL18A1,SLC19A1c.3326G>C (p.Gly1109Ala)
c.2786G>C (p.Gly929Ala)
c.827G>C (p.Gly276Ala)
c.4031G>C (p.Gly1344Ala)
c.498-5862C>G
c.1294-5862C>G (n.1294-5862C>G)
c.1585-1505C>G (n.1585-1505C>G)
21g.45504474G=CA2392190697COL18A1,SLC19A1c.3326G= (p.Gly1109=)
c.2786G= (p.Gly929=)
c.827G= (p.Gly276=)
c.4031G= (p.Gly1344=)
c.498-5862C=
c.1294-5862C= (n.1294-5862C=)
c.1585-1505C= (n.1585-1505C=)
21g.45504474G>TCA410499206COL18A1,SLC19A1c.3326G>T (p.Gly1109Val)
c.2786G>T (p.Gly929Val)
c.827G>T (p.Gly276Val)
c.4031G>T (p.Gly1344Val)
c.498-5862C>A
c.1294-5862C>A (n.1294-5862C>A)
c.1585-1505C>A (n.1585-1505C>A)
21g.45504474_45504475insACA2654918047COL18A1,SLC19A1c.3326_3327insA (p.Gly1110ArgfsTer?)
c.2786_2787insA (p.Gly930ArgfsTer?)
c.827_828insA (p.Gly277ArgfsTer?)
c.4031_4032insA (p.Gly1345ArgfsTer?)
c.498-5863_498-5862insT
c.1294-5863_1294-5862insT (n.1294-5863_1294-5862insT)
c.1585-1506_1585-1505insT (n.1585-1506_1585-1505insT)
 gnomAD v4
21g.45504475C>ACA512687143COL18A1,SLC19A1c.3327C>A (p.Gly1109=)
c.2787C>A (p.Gly929=)
c.828C>A (p.Gly276=)
c.4032C>A (p.Gly1344=)
c.498-5863G>T
c.1294-5863G>T (n.1294-5863G>T)
c.1585-1506G>T (n.1585-1506G>T)
 gnomAD v4
21g.45504475C=CA2392190698COL18A1,SLC19A1c.3327C= (p.Gly1109=)
c.2787C= (p.Gly929=)
c.828C= (p.Gly276=)
c.4032C= (p.Gly1344=)
c.498-5863G=
c.1294-5863G= (n.1294-5863G=)
c.1585-1506G= (n.1585-1506G=)
21g.45504475C>GCA512687142COL18A1,SLC19A1c.3327C>G (p.Gly1109=)
c.2787C>G (p.Gly929=)
c.828C>G (p.Gly276=)
c.4032C>G (p.Gly1344=)
c.498-5863G>C
c.1294-5863G>C (n.1294-5863G>C)
c.1585-1506G>C (n.1585-1506G>C)
 dbSNP
21g.45504475C>TCA10067469COL18A1,SLC19A1c.3327C>T (p.Gly1109=)
c.2787C>T (p.Gly929=)
c.828C>T (p.Gly276=)
c.4032C>T (p.Gly1344=)
c.498-5863G>A
c.1294-5863G>A (n.1294-5863G>A)
c.1585-1506G>A (n.1585-1506G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504476G>ACA10067470COL18A1,SLC19A1c.3328G>A (p.Gly1110Ser)
c.2788G>A (p.Gly930Ser)
c.829G>A (p.Gly277Ser)
c.4033G>A (p.Gly1345Ser)
c.498-5864C>T
c.1294-5864C>T (n.1294-5864C>T)
c.1585-1507C>T (n.1585-1507C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504476G>CCA410499207COL18A1,SLC19A1c.3328G>C (p.Gly1110Arg)
c.2788G>C (p.Gly930Arg)
c.829G>C (p.Gly277Arg)
c.4033G>C (p.Gly1345Arg)
c.498-5864C>G
c.1294-5864C>G (n.1294-5864C>G)
c.1585-1507C>G (n.1585-1507C>G)
21g.45504476G=CA2392190699COL18A1,SLC19A1c.3328G= (p.Gly1110=)
c.2788G= (p.Gly930=)
c.829G= (p.Gly277=)
c.4033G= (p.Gly1345=)
c.498-5864C=
c.1294-5864C= (n.1294-5864C=)
c.1585-1507C= (n.1585-1507C=)
21g.45504476G>TCA410499208COL18A1,SLC19A1c.3328G>T (p.Gly1110Cys)
c.2788G>T (p.Gly930Cys)
c.829G>T (p.Gly277Cys)
c.4033G>T (p.Gly1345Cys)
c.498-5864C>A
c.1294-5864C>A (n.1294-5864C>A)
c.1585-1507C>A (n.1585-1507C>A)
 gnomAD v4 COSMIC COSMIC COSMIC
21g.45504477G>ACA410499209COL18A1,SLC19A1c.3329G>A (p.Gly1110Asp)
c.2789G>A (p.Gly930Asp)
c.830G>A (p.Gly277Asp)
c.4034G>A (p.Gly1345Asp)
c.498-5865C>T
c.1294-5865C>T (n.1294-5865C>T)
c.1585-1508C>T (n.1585-1508C>T)
21g.45504477G>CCA410499210COL18A1,SLC19A1c.3329G>C (p.Gly1110Ala)
c.2789G>C (p.Gly930Ala)
c.830G>C (p.Gly277Ala)
c.4034G>C (p.Gly1345Ala)
c.498-5865C>G
c.1294-5865C>G (n.1294-5865C>G)
c.1585-1508C>G (n.1585-1508C>G)
21g.45504477G>TCA410499211COL18A1,SLC19A1c.3329G>T (p.Gly1110Val)
c.2789G>T (p.Gly930Val)
c.830G>T (p.Gly277Val)
c.4034G>T (p.Gly1345Val)
c.498-5865C>A
c.1294-5865C>A (n.1294-5865C>A)
c.1585-1508C>A (n.1585-1508C>A)
21g.45504478C>ACA512687145COL18A1,SLC19A1c.3330C>A (p.Gly1110=)
c.2790C>A (p.Gly930=)
c.831C>A (p.Gly277=)
c.4035C>A (p.Gly1345=)
c.498-5866G>T
c.1294-5866G>T (n.1294-5866G>T)
c.1585-1509G>T (n.1585-1509G>T)
21g.45504478C=CA2392190700COL18A1,SLC19A1c.3330C= (p.Gly1110=)
c.2790C= (p.Gly930=)
c.831C= (p.Gly277=)
c.4035C= (p.Gly1345=)
c.498-5866G=
c.1294-5866G= (n.1294-5866G=)
c.1585-1509G= (n.1585-1509G=)
21g.45504478C>GCA512687144COL18A1,SLC19A1c.3330C>G (p.Gly1110=)
c.2790C>G (p.Gly930=)
c.831C>G (p.Gly277=)
c.4035C>G (p.Gly1345=)
c.498-5866G>C
c.1294-5866G>C (n.1294-5866G>C)
c.1585-1509G>C (n.1585-1509G>C)
 dbSNP
21g.45504478C>TCA10067471COL18A1,SLC19A1c.3330C>T (p.Gly1110=)
c.2790C>T (p.Gly930=)
c.831C>T (p.Gly277=)
c.4035C>T (p.Gly1345=)
c.498-5866G>A
c.1294-5866G>A (n.1294-5866G>A)
c.1585-1509G>A (n.1585-1509G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
21g.45504479G>ACA10067472COL18A1,SLC19A1c.3331G>A (p.Gly1111Ser)
c.2791G>A (p.Gly931Ser)
c.832G>A (p.Gly278Ser)
c.4036G>A (p.Gly1346Ser)
c.498-5867C>T
c.1294-5867C>T (n.1294-5867C>T)
c.1585-1510C>T (n.1585-1510C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504479G>CCA410499212COL18A1,SLC19A1c.3331G>C (p.Gly1111Arg)
c.2791G>C (p.Gly931Arg)
c.832G>C (p.Gly278Arg)
c.4036G>C (p.Gly1346Arg)
c.498-5867C>G
c.1294-5867C>G (n.1294-5867C>G)
c.1585-1510C>G (n.1585-1510C>G)
21g.45504479G=CA2392190701COL18A1,SLC19A1c.3331G= (p.Gly1111=)
c.2791G= (p.Gly931=)
c.832G= (p.Gly278=)
c.4036G= (p.Gly1346=)
c.498-5867C=
c.1294-5867C= (n.1294-5867C=)
c.1585-1510C= (n.1585-1510C=)
21g.45504479G>TCA410499213COL18A1,SLC19A1c.3331G>T (p.Gly1111Cys)
c.2791G>T (p.Gly931Cys)
c.832G>T (p.Gly278Cys)
c.4036G>T (p.Gly1346Cys)
c.498-5867C>A
c.1294-5867C>A (n.1294-5867C>A)
c.1585-1510C>A (n.1585-1510C>A)
21g.45504480G>ACA410499214COL18A1,SLC19A1c.3332G>A (p.Gly1111Asp)
c.2792G>A (p.Gly931Asp)
c.833G>A (p.Gly278Asp)
c.4037G>A (p.Gly1346Asp)
c.498-5868C>T
c.1294-5868C>T (n.1294-5868C>T)
c.1585-1511C>T (n.1585-1511C>T)
21g.45504480G>CCA410499215COL18A1,SLC19A1c.3332G>C (p.Gly1111Ala)
c.2792G>C (p.Gly931Ala)
c.833G>C (p.Gly278Ala)
c.4037G>C (p.Gly1346Ala)
c.498-5868C>G
c.1294-5868C>G (n.1294-5868C>G)
c.1585-1511C>G (n.1585-1511C>G)
21g.45504480G>TCA410499216COL18A1,SLC19A1c.3332G>T (p.Gly1111Val)
c.2792G>T (p.Gly931Val)
c.833G>T (p.Gly278Val)
c.4037G>T (p.Gly1346Val)
c.498-5868C>A
c.1294-5868C>A (n.1294-5868C>A)
c.1585-1511C>A (n.1585-1511C>A)
 gnomAD v4
21g.45504481T>ACA512687147COL18A1,SLC19A1c.3333T>A (p.Gly1111=)
c.2793T>A (p.Gly931=)
c.834T>A (p.Gly278=)
c.4038T>A (p.Gly1346=)
c.498-5869A>T
c.1294-5869A>T (n.1294-5869A>T)
c.1585-1512A>T (n.1585-1512A>T)
21g.45504481T>CCA512687146COL18A1,SLC19A1c.3333T>C (p.Gly1111=)
c.2793T>C (p.Gly931=)
c.834T>C (p.Gly278=)
c.4038T>C (p.Gly1346=)
c.498-5869A>G
c.1294-5869A>G (n.1294-5869A>G)
c.1585-1512A>G (n.1585-1512A>G)
 ClinVar dbSNP gnomAD v4
21g.45504481T>GCA512687148COL18A1,SLC19A1c.3333T>G (p.Gly1111=)
c.2793T>G (p.Gly931=)
c.834T>G (p.Gly278=)
c.4038T>G (p.Gly1346=)
c.498-5869A>C
c.1294-5869A>C (n.1294-5869A>C)
c.1585-1512A>C (n.1585-1512A>C)
 dbSNP
21g.45504481T=CA2392190702COL18A1,SLC19A1c.3333T= (p.Gly1111=)
c.2793T= (p.Gly931=)
c.834T= (p.Gly278=)
c.4038T= (p.Gly1346=)
c.498-5869A=
c.1294-5869A= (n.1294-5869A=)
c.1585-1512A= (n.1585-1512A=)
21g.45504482T>ACA410499217COL18A1,SLC19A1c.3334T>A (p.Phe1112Ile)
c.2794T>A (p.Phe932Ile)
c.835T>A (p.Phe279Ile)
c.4039T>A (p.Phe1347Ile)
c.498-5870A>T
c.1294-5870A>T (n.1294-5870A>T)
c.1585-1513A>T (n.1585-1513A>T)
21g.45504482T>CCA410499218COL18A1,SLC19A1c.3334T>C (p.Phe1112Leu)
c.2794T>C (p.Phe932Leu)
c.835T>C (p.Phe279Leu)
c.4039T>C (p.Phe1347Leu)
c.498-5870A>G
c.1294-5870A>G (n.1294-5870A>G)
c.1585-1513A>G (n.1585-1513A>G)
21g.45504482T>GCA410499219COL18A1,SLC19A1c.3334T>G (p.Phe1112Val)
c.2794T>G (p.Phe932Val)
c.835T>G (p.Phe279Val)
c.4039T>G (p.Phe1347Val)
c.498-5870A>C
c.1294-5870A>C (n.1294-5870A>C)
c.1585-1513A>C (n.1585-1513A>C)
21g.45504483T>ACA410499220COL18A1,SLC19A1c.3335T>A (p.Phe1112Tyr)
c.2795T>A (p.Phe932Tyr)
c.836T>A (p.Phe279Tyr)
c.4040T>A (p.Phe1347Tyr)
c.498-5871A>T
c.1294-5871A>T (n.1294-5871A>T)
c.1585-1514A>T (n.1585-1514A>T)
21g.45504483T>CCA410499221COL18A1,SLC19A1c.3335T>C (p.Phe1112Ser)
c.2795T>C (p.Phe932Ser)
c.836T>C (p.Phe279Ser)
c.4040T>C (p.Phe1347Ser)
c.498-5871A>G
c.1294-5871A>G (n.1294-5871A>G)
c.1585-1514A>G (n.1585-1514A>G)
21g.45504483T>GCA410499222COL18A1,SLC19A1c.3335T>G (p.Phe1112Cys)
c.2795T>G (p.Phe932Cys)
c.836T>G (p.Phe279Cys)
c.4040T>G (p.Phe1347Cys)
c.498-5871A>C
c.1294-5871A>C (n.1294-5871A>C)
c.1585-1514A>C (n.1585-1514A>C)
 dbSNP
21g.45504483T=CA2392190703COL18A1,SLC19A1c.3335T= (p.Phe1112=)
c.2795T= (p.Phe932=)
c.836T= (p.Phe279=)
c.4040T= (p.Phe1347=)
c.498-5871A=
c.1294-5871A= (n.1294-5871A=)
c.1585-1514A= (n.1585-1514A=)
21g.45504484C>ACA410499223COL18A1,SLC19A1c.3336C>A (p.Phe1112Leu)
c.2796C>A (p.Phe932Leu)
c.837C>A (p.Phe279Leu)
c.4041C>A (p.Phe1347Leu)
c.498-5872G>T
c.1294-5872G>T (n.1294-5872G>T)
c.1585-1515G>T (n.1585-1515G>T)
21g.45504484C=CA2392190704COL18A1,SLC19A1c.3336C= (p.Phe1112=)
c.2796C= (p.Phe932=)
c.837C= (p.Phe279=)
c.4041C= (p.Phe1347=)
c.498-5872G=
c.1294-5872G= (n.1294-5872G=)
c.1585-1515G= (n.1585-1515G=)
21g.45504484C>GCA410499224COL18A1,SLC19A1c.3336C>G (p.Phe1112Leu)
c.2796C>G (p.Phe932Leu)
c.837C>G (p.Phe279Leu)
c.4041C>G (p.Phe1347Leu)
c.498-5872G>C
c.1294-5872G>C (n.1294-5872G>C)
c.1585-1515G>C (n.1585-1515G>C)
 gnomAD v4
21g.45504484C>TCA512687149COL18A1,SLC19A1c.3336C>T (p.Phe1112=)
c.2796C>T (p.Phe932=)
c.837C>T (p.Phe279=)
c.4041C>T (p.Phe1347=)
c.498-5872G>A
c.1294-5872G>A (n.1294-5872G>A)
c.1585-1515G>A (n.1585-1515G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45504485T>ACA410499227COL18A1,SLC19A1c.3337T>A (p.Phe1113Ile)
c.2797T>A (p.Phe933Ile)
c.838T>A (p.Phe280Ile)
c.4042T>A (p.Phe1348Ile)
c.498-5873A>T
c.1294-5873A>T (n.1294-5873A>T)
c.1585-1516A>T (n.1585-1516A>T)
21g.45504485T>CCA410499226COL18A1,SLC19A1c.3337T>C (p.Phe1113Leu)
c.2797T>C (p.Phe933Leu)
c.838T>C (p.Phe280Leu)
c.4042T>C (p.Phe1348Leu)
c.498-5873A>G
c.1294-5873A>G (n.1294-5873A>G)
c.1585-1516A>G (n.1585-1516A>G)
 ClinVar gnomAD v4
21g.45504485T>GCA410499225COL18A1,SLC19A1c.3337T>G (p.Phe1113Val)
c.2797T>G (p.Phe933Val)
c.838T>G (p.Phe280Val)
c.4042T>G (p.Phe1348Val)
c.498-5873A>C
c.1294-5873A>C (n.1294-5873A>C)
c.1585-1516A>C (n.1585-1516A>C)
21g.45504486T>ACA410499228COL18A1,SLC19A1c.3338T>A (p.Phe1113Tyr)
c.2798T>A (p.Phe933Tyr)
c.839T>A (p.Phe280Tyr)
c.4043T>A (p.Phe1348Tyr)
c.498-5874A>T
c.1294-5874A>T (n.1294-5874A>T)
c.1585-1517A>T (n.1585-1517A>T)
21g.45504486T>CCA410499229COL18A1,SLC19A1c.3338T>C (p.Phe1113Ser)
c.2798T>C (p.Phe933Ser)
c.839T>C (p.Phe280Ser)
c.4043T>C (p.Phe1348Ser)
c.498-5874A>G
c.1294-5874A>G (n.1294-5874A>G)
c.1585-1517A>G (n.1585-1517A>G)
21g.45504486T>GCA410499230COL18A1,SLC19A1c.3338T>G (p.Phe1113Cys)
c.2798T>G (p.Phe933Cys)
c.839T>G (p.Phe280Cys)
c.4043T>G (p.Phe1348Cys)
c.498-5874A>C
c.1294-5874A>C (n.1294-5874A>C)
c.1585-1517A>C (n.1585-1517A>C)
21g.45504487C>ACA410499231COL18A1,SLC19A1c.3339C>A (p.Phe1113Leu)
c.2799C>A (p.Phe933Leu)
c.840C>A (p.Phe280Leu)
c.4044C>A (p.Phe1348Leu)
c.498-5875G>T
c.1294-5875G>T (n.1294-5875G>T)
c.1585-1518G>T (n.1585-1518G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.45504487C=CA2392190705COL18A1,SLC19A1c.3339C= (p.Phe1113=)
c.2799C= (p.Phe933=)
c.840C= (p.Phe280=)
c.4044C= (p.Phe1348=)
c.498-5875G=
c.1294-5875G= (n.1294-5875G=)
c.1585-1518G= (n.1585-1518G=)
21g.45504487C>GCA410499232COL18A1,SLC19A1c.3339C>G (p.Phe1113Leu)
c.2799C>G (p.Phe933Leu)
c.840C>G (p.Phe280Leu)
c.4044C>G (p.Phe1348Leu)
c.498-5875G>C
c.1294-5875G>C (n.1294-5875G>C)
c.1585-1518G>C (n.1585-1518G>C)
21g.45504487C>TCA10067473COL18A1,SLC19A1c.3339C>T (p.Phe1113=)
c.2799C>T (p.Phe933=)
c.840C>T (p.Phe280=)
c.4044C>T (p.Phe1348=)
c.498-5875G>A
c.1294-5875G>A (n.1294-5875G>A)
c.1585-1518G>A (n.1585-1518G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
21g.45504488G>ACA10067474COL18A1,SLC19A1c.3340G>A (p.Gly1114Ser)
c.2800G>A (p.Gly934Ser)
c.841G>A (p.Gly281Ser)
c.4045G>A (p.Gly1349Ser)
c.498-5876C>T
c.1294-5876C>T (n.1294-5876C>T)
c.1585-1519C>T (n.1585-1519C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
21g.45504488G>CCA410499233COL18A1,SLC19A1c.3340G>C (p.Gly1114Arg)
c.2800G>C (p.Gly934Arg)
c.841G>C (p.Gly281Arg)
c.4045G>C (p.Gly1349Arg)
c.498-5876C>G
c.1294-5876C>G (n.1294-5876C>G)
c.1585-1519C>G (n.1585-1519C>G)
 dbSNP gnomAD v3 gnomAD v4
21g.45504488G=CA2392190706COL18A1,SLC19A1c.3340G= (p.Gly1114=)
c.2800G= (p.Gly934=)
c.841G= (p.Gly281=)
c.4045G= (p.Gly1349=)
c.498-5876C=
c.1294-5876C= (n.1294-5876C=)
c.1585-1519C= (n.1585-1519C=)
21g.45504488G>TCA410499234COL18A1,SLC19A1c.3340G>T (p.Gly1114Cys)
c.2800G>T (p.Gly934Cys)
c.841G>T (p.Gly281Cys)
c.4045G>T (p.Gly1349Cys)
c.498-5876C>A
c.1294-5876C>A (n.1294-5876C>A)
c.1585-1519C>A (n.1585-1519C>A)
 dbSNP gnomAD v4
21g.45504489G>ACA321921212COL18A1,SLC19A1c.3341G>A (p.Gly1114Asp)
c.2801G>A (p.Gly934Asp)
c.842G>A (p.Gly281Asp)
c.4046G>A (p.Gly1349Asp)
c.498-5877C>T
c.1294-5877C>T (n.1294-5877C>T)
c.1585-1520C>T (n.1585-1520C>T)
 dbSNP gnomAD v4
21g.45504489G>CCA410499235COL18A1,SLC19A1c.3341G>C (p.Gly1114Ala)
c.2801G>C (p.Gly934Ala)
c.842G>C (p.Gly281Ala)
c.4046G>C (p.Gly1349Ala)
c.498-5877C>G
c.1294-5877C>G (n.1294-5877C>G)
c.1585-1520C>G (n.1585-1520C>G)
21g.45504489G=CA2392190707COL18A1,SLC19A1c.3341G= (p.Gly1114=)
c.2801G= (p.Gly934=)
c.842G= (p.Gly281=)
c.4046G= (p.Gly1349=)
c.498-5877C=
c.1294-5877C= (n.1294-5877C=)
c.1585-1520C= (n.1585-1520C=)
21g.45504489G>TCA410499236COL18A1,SLC19A1c.3341G>T (p.Gly1114Val)
c.2801G>T (p.Gly934Val)
c.842G>T (p.Gly281Val)
c.4046G>T (p.Gly1349Val)
c.498-5877C>A
c.1294-5877C>A (n.1294-5877C>A)
c.1585-1520C>A (n.1585-1520C>A)
 dbSNP gnomAD v2 gnomAD v4
21g.45504490C>ACA512687150COL18A1,SLC19A1c.3342C>A (p.Gly1114=)
c.2802C>A (p.Gly934=)
c.843C>A (p.Gly281=)
c.4047C>A (p.Gly1349=)
c.498-5878G>T
c.1294-5878G>T (n.1294-5878G>T)
c.1585-1521G>T (n.1585-1521G>T)
 gnomAD v4
21g.45504490C>GCA512687151COL18A1,SLC19A1c.3342C>G (p.Gly1114=)
c.2802C>G (p.Gly934=)
c.843C>G (p.Gly281=)
c.4047C>G (p.Gly1349=)
c.498-5878G>C
c.1294-5878G>C (n.1294-5878G>C)
c.1585-1521G>C (n.1585-1521G>C)
21g.45504490C>TCA512687152COL18A1,SLC19A1c.3342C>T (p.Gly1114=)
c.2802C>T (p.Gly934=)
c.843C>T (p.Gly281=)
c.4047C>T (p.Gly1349=)
c.498-5878G>A
c.1294-5878G>A (n.1294-5878G>A)
c.1585-1521G>A (n.1585-1521G>A)
 gnomAD v4
21g.45504491T>ACA410499238COL18A1,SLC19A1c.3343T>A (p.Ser1115Thr)
c.2803T>A (p.Ser935Thr)
c.844T>A (p.Ser282Thr)
c.4048T>A (p.Ser1350Thr)
c.498-5879A>T
c.1294-5879A>T (n.1294-5879A>T)
c.1585-1522A>T (n.1585-1522A>T)
21g.45504491T>CCA410499239COL18A1,SLC19A1c.3343T>C (p.Ser1115Pro)
c.2803T>C (p.Ser935Pro)
c.844T>C (p.Ser282Pro)
c.4048T>C (p.Ser1350Pro)
c.498-5879A>G
c.1294-5879A>G (n.1294-5879A>G)
c.1585-1522A>G (n.1585-1522A>G)
 gnomAD v4
21g.45504491T>GCA410499237COL18A1,SLC19A1c.3343T>G (p.Ser1115Ala)
c.2803T>G (p.Ser935Ala)
c.844T>G (p.Ser282Ala)
c.4048T>G (p.Ser1350Ala)
c.498-5879A>C
c.1294-5879A>C (n.1294-5879A>C)
c.1585-1522A>C (n.1585-1522A>C)
21g.45504492C>ACA410499240COL18A1,SLC19A1c.3344C>A (p.Ser1115Tyr)
c.2804C>A (p.Ser935Tyr)
c.845C>A (p.Ser282Tyr)
c.4049C>A (p.Ser1350Tyr)
c.498-5880G>T
c.1294-5880G>T (n.1294-5880G>T)
c.1585-1523G>T (n.1585-1523G>T)
 gnomAD v4
21g.45504492C>GCA410499241COL18A1,SLC19A1c.3344C>G (p.Ser1115Cys)
c.2804C>G (p.Ser935Cys)
c.845C>G (p.Ser282Cys)
c.4049C>G (p.Ser1350Cys)
c.498-5880G>C
c.1294-5880G>C (n.1294-5880G>C)
c.1585-1523G>C (n.1585-1523G>C)
21g.45504492C>TCA410499242COL18A1,SLC19A1c.3344C>T (p.Ser1115Phe)
c.2804C>T (p.Ser935Phe)
c.845C>T (p.Ser282Phe)
c.4049C>T (p.Ser1350Phe)
c.498-5880G>A
c.1294-5880G>A (n.1294-5880G>A)
c.1585-1523G>A (n.1585-1523G>A)
21g.45504493delCA2577627019COL18A1,SLC19A1c.3345del (p.Ser1116AlafsTer?)
c.2805del (p.Ser936AlafsTer?)
c.846del (p.Ser283AlafsTer?)
c.4050del (p.Ser1351AlafsTer?)
c.498-5880del
c.1294-5880del (n.1294-5880del)
c.1585-1523del (n.1585-1523del)
21g.45504493C>ACA512687153COL18A1,SLC19A1c.3345C>A (p.Ser1115=)
c.2805C>A (p.Ser935=)
c.846C>A (p.Ser282=)
c.4050C>A (p.Ser1350=)
c.498-5881G>T
c.1294-5881G>T (n.1294-5881G>T)
c.1585-1524G>T (n.1585-1524G>T)
21g.45504493C=CA2392190708COL18A1,SLC19A1c.3345C= (p.Ser1115=)
c.2805C= (p.Ser935=)
c.846C= (p.Ser282=)
c.4050C= (p.Ser1350=)
c.498-5881G=
c.1294-5881G= (n.1294-5881G=)
c.1585-1524G= (n.1585-1524G=)
21g.45504493C>GCA512687154COL18A1,SLC19A1c.3345C>G (p.Ser1115=)
c.2805C>G (p.Ser935=)
c.846C>G (p.Ser282=)
c.4050C>G (p.Ser1350=)
c.498-5881G>C
c.1294-5881G>C (n.1294-5881G>C)
c.1585-1524G>C (n.1585-1524G>C)
21g.45504493C>TCA10067475COL18A1,SLC19A1c.3345C>T (p.Ser1115=)
c.2805C>T (p.Ser935=)
c.846C>T (p.Ser282=)
c.4050C>T (p.Ser1350=)
c.498-5881G>A
c.1294-5881G>A (n.1294-5881G>A)
c.1585-1524G>A (n.1585-1524G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45504494A=CA2392190709COL18A1,SLC19A1c.3346A= (p.Ser1116=)
c.2806A= (p.Ser936=)
c.847A= (p.Ser283=)
c.4051A= (p.Ser1351=)
c.498-5882T=
c.1294-5882T= (n.1294-5882T=)
c.1585-1525T= (n.1585-1525T=)
21g.45504494A>CCA410499243COL18A1,SLC19A1c.3346A>C (p.Ser1116Arg)
c.2806A>C (p.Ser936Arg)
c.847A>C (p.Ser283Arg)
c.4051A>C (p.Ser1351Arg)
c.498-5882T>G
c.1294-5882T>G (n.1294-5882T>G)
c.1585-1525T>G (n.1585-1525T>G)
21g.45504494A>GCA410499244COL18A1,SLC19A1c.3346A>G (p.Ser1116Gly)
c.2806A>G (p.Ser936Gly)
c.847A>G (p.Ser283Gly)
c.4051A>G (p.Ser1351Gly)
c.498-5882T>C
c.1294-5882T>C (n.1294-5882T>C)
c.1585-1525T>C (n.1585-1525T>C)
21g.45504494A>TCA410499245COL18A1,SLC19A1c.3346A>T (p.Ser1116Cys)
c.2806A>T (p.Ser936Cys)
c.847A>T (p.Ser283Cys)
c.4051A>T (p.Ser1351Cys)
c.498-5882T>A
c.1294-5882T>A (n.1294-5882T>A)
c.1585-1525T>A (n.1585-1525T>A)
 dbSNP gnomAD v2 gnomAD v4
21g.45504494_45504512delinsAGCCTGCCCGGCCCCCCCGCA2392190710COL18A1,SLC19A1c.3346_3364delinsAGCCTGCCCGGCCCCCCCG (p.Ser1116=)
c.2806_2824delinsAGCCTGCCCGGCCCCCCCG (p.Ser936=)
c.847_865delinsAGCCTGCCCGGCCCCCCCG (p.Ser283=)
c.4051_4069delinsAGCCTGCCCGGCCCCCCCG (p.Ser1351=)
c.498-5900_498-5882delinsCGGGGGGGCCGGGCAGGCT
c.1294-5900_1294-5882delinsCGGGGGGGCCGGGCAGGCT (n.1294-5900_1294-5882delinsCGGGGGGGCCGGGCAGGCT)
c.1585-1543_1585-1525delinsCGGGGGGGCCGGGCAGGCT (n.1585-1543_1585-1525delinsCGGGGGGGCCGGGCAGGCT)
21g.45504495G>ACA410499246COL18A1,SLC19A1c.3347G>A (p.Ser1116Asn)
c.2807G>A (p.Ser936Asn)
c.848G>A (p.Ser283Asn)
c.4052G>A (p.Ser1351Asn)
c.498-5883C>T
c.1294-5883C>T (n.1294-5883C>T)
c.1585-1526C>T (n.1585-1526C>T)
 gnomAD v4
21g.45504495G>CCA410499248COL18A1,SLC19A1c.3347G>C (p.Ser1116Thr)
c.2807G>C (p.Ser936Thr)
c.848G>C (p.Ser283Thr)
c.4052G>C (p.Ser1351Thr)
c.498-5883C>G
c.1294-5883C>G (n.1294-5883C>G)
c.1585-1526C>G (n.1585-1526C>G)
21g.45504495G>TCA410499247COL18A1,SLC19A1c.3347G>T (p.Ser1116Ile)
c.2807G>T (p.Ser936Ile)
c.848G>T (p.Ser283Ile)
c.4052G>T (p.Ser1351Ile)
c.498-5883C>A
c.1294-5883C>A (n.1294-5883C>A)
c.1585-1526C>A (n.1585-1526C>A)
 gnomAD v4
21g.45504498_45504506delCA2577627021COL18A1,SLC19A1c.3350_3358del (p.Leu1117_Gly1119del)
c.2810_2818del (p.Leu937_Gly939del)
c.851_859del (p.Leu284_Gly286del)
c.4055_4063del (p.Leu1352_Gly1354del)
c.498-5891_498-5883del
c.1294-5891_1294-5883del (n.1294-5891_1294-5883del)
c.1585-1534_1585-1526del (n.1585-1534_1585-1526del)
 ClinVar
21g.45504498_45504515delCA749787629COL18A1,SLC19A1c.3350_3367del (p.Leu1117_Gly1122del)
c.2810_2827del (p.Leu937_Gly942del)
c.851_868del (p.Leu284_Gly289del)
c.4055_4072del (p.Leu1352_Gly1357del)
c.498-5900_498-5883del
c.1294-5900_1294-5883del (n.1294-5900_1294-5883del)
c.1585-1543_1585-1526del (n.1585-1543_1585-1526del)
 dbSNP
21g.45504496C>ACA10067476COL18A1,SLC19A1c.3348C>A (p.Ser1116Arg)
c.2808C>A (p.Ser936Arg)
c.849C>A (p.Ser283Arg)
c.4053C>A (p.Ser1351Arg)
c.498-5884G>T
c.1294-5884G>T (n.1294-5884G>T)
c.1585-1527G>T (n.1585-1527G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45504496C=CA2392190711COL18A1,SLC19A1c.3348C= (p.Ser1116=)
c.2808C= (p.Ser936=)
c.849C= (p.Ser283=)
c.4053C= (p.Ser1351=)
c.498-5884G=
c.1294-5884G= (n.1294-5884G=)
c.1585-1527G= (n.1585-1527G=)
21g.45504496C>GCA410499249COL18A1,SLC19A1c.3348C>G (p.Ser1116Arg)
c.2808C>G (p.Ser936Arg)
c.849C>G (p.Ser283Arg)
c.4053C>G (p.Ser1351Arg)
c.498-5884G>C
c.1294-5884G>C (n.1294-5884G>C)
c.1585-1527G>C (n.1585-1527G>C)
 ClinVar dbSNP
21g.45504496C>TCA512687155COL18A1,SLC19A1c.3348C>T (p.Ser1116=)
c.2808C>T (p.Ser936=)
c.849C>T (p.Ser283=)
c.4053C>T (p.Ser1351=)
c.498-5884G>A
c.1294-5884G>A (n.1294-5884G>A)
c.1585-1527G>A (n.1585-1527G>A)
 gnomAD v4
21g.45504497delCA2654918151COL18A1,SLC19A1c.3349del (p.Leu1117CysfsTer?)
c.2809del (p.Leu937CysfsTer?)
c.850del (p.Leu284CysfsTer?)
c.4054del (p.Leu1352CysfsTer?)
c.498-5884del
c.1294-5884del (n.1294-5884del)
c.1585-1527del (n.1585-1527del)
 gnomAD v4
21g.45504497C>ACA410499250COL18A1,SLC19A1c.3349C>A (p.Leu1117Met)
c.2809C>A (p.Leu937Met)
c.850C>A (p.Leu284Met)
c.4054C>A (p.Leu1352Met)
c.498-5885G>T
c.1294-5885G>T (n.1294-5885G>T)
c.1585-1528G>T (n.1585-1528G>T)
 gnomAD v4
21g.45504497C=CA2392190713COL18A1,SLC19A1c.3349C= (p.Leu1117=)
c.2809C= (p.Leu937=)
c.850C= (p.Leu284=)
c.4054C= (p.Leu1352=)
c.498-5885G=
c.1294-5885G= (n.1294-5885G=)
c.1585-1528G= (n.1585-1528G=)
21g.45504497C>GCA410499251COL18A1,SLC19A1c.3349C>G (p.Leu1117Val)
c.2809C>G (p.Leu937Val)
c.850C>G (p.Leu284Val)
c.4054C>G (p.Leu1352Val)
c.498-5885G>C
c.1294-5885G>C (n.1294-5885G>C)
c.1585-1528G>C (n.1585-1528G>C)
21g.45504497C>TCA512687156COL18A1,SLC19A1c.3349C>T (p.Leu1117=)
c.2809C>T (p.Leu937=)
c.850C>T (p.Leu284=)
c.4054C>T (p.Leu1352=)
c.498-5885G>A
c.1294-5885G>A (n.1294-5885G>A)
c.1585-1528G>A (n.1585-1528G>A)
 dbSNP gnomAD v2 gnomAD v4
21g.45504497_45504504delinsCTGCCCGGCA2392190712COL18A1,SLC19A1c.3349_3356delinsCTGCCCGG (p.Leu1117=)
c.2809_2816delinsCTGCCCGG (p.Leu937=)
c.850_857delinsCTGCCCGG (p.Leu284=)
c.4054_4061delinsCTGCCCGG (p.Leu1352=)
c.498-5892_498-5885delinsCCGGGCAG
c.1294-5892_1294-5885delinsCCGGGCAG (n.1294-5892_1294-5885delinsCCGGGCAG)
c.1585-1535_1585-1528delinsCCGGGCAG (n.1585-1535_1585-1528delinsCCGGGCAG)
21g.45504498T>ACA410499252COL18A1,SLC19A1c.3350T>A (p.Leu1117Gln)
c.2810T>A (p.Leu937Gln)
c.851T>A (p.Leu284Gln)
c.4055T>A (p.Leu1352Gln)
c.498-5886A>T
c.1294-5886A>T (n.1294-5886A>T)
c.1585-1529A>T (n.1585-1529A>T)
21g.45504498T>CCA410499254COL18A1,SLC19A1c.3350T>C (p.Leu1117Pro)
c.2810T>C (p.Leu937Pro)
c.851T>C (p.Leu284Pro)
c.4055T>C (p.Leu1352Pro)
c.498-5886A>G
c.1294-5886A>G (n.1294-5886A>G)
c.1585-1529A>G (n.1585-1529A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45504498T>GCA410499253COL18A1,SLC19A1c.3350T>G (p.Leu1117Arg)
c.2810T>G (p.Leu937Arg)
c.851T>G (p.Leu284Arg)
c.4055T>G (p.Leu1352Arg)
c.498-5886A>C
c.1294-5886A>C (n.1294-5886A>C)
c.1585-1529A>C (n.1585-1529A>C)
21g.45504498T=CA2392190714COL18A1,SLC19A1c.3350T= (p.Leu1117=)
c.2810T= (p.Leu937=)
c.851T= (p.Leu284=)
c.4055T= (p.Leu1352=)
c.498-5886A=
c.1294-5886A= (n.1294-5886A=)
c.1585-1529A= (n.1585-1529A=)
21g.45504498dupCA2654918157COL18A1,SLC19A1c.3350dup (p.Pro1118AlafsTer?)
c.2810dup (p.Pro938AlafsTer?)
c.851dup (p.Pro285AlafsTer?)
c.4055dup (p.Pro1353AlafsTer?)
c.498-5886dup
c.1294-5886dup (n.1294-5886dup)
c.1585-1529dup (n.1585-1529dup)
 gnomAD v4
21g.45504498_45504504delCA638497336COL18A1,SLC19A1c.3350_3356del (p.Leu1117ProfsTer?)
c.2810_2816del (p.Leu937ProfsTer?)
c.851_857del (p.Leu284ProfsTer?)
c.4055_4061del (p.Leu1352ProfsTer?)
c.498-5892_498-5886del
c.1294-5892_1294-5886del (n.1294-5892_1294-5886del)
c.1585-1535_1585-1529del (n.1585-1535_1585-1529del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45504499G>ACA10067478COL18A1,SLC19A1c.3351G>A (p.Leu1117=)
c.2811G>A (p.Leu937=)
c.852G>A (p.Leu284=)
c.4056G>A (p.Leu1352=)
c.498-5887C>T
c.1294-5887C>T (n.1294-5887C>T)
c.1585-1530C>T (n.1585-1530C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.45504499G>CCA512687157COL18A1,SLC19A1c.3351G>C (p.Leu1117=)
c.2811G>C (p.Leu937=)
c.852G>C (p.Leu284=)
c.4056G>C (p.Leu1352=)
c.498-5887C>G
c.1294-5887C>G (n.1294-5887C>G)
c.1585-1530C>G (n.1585-1530C>G)
21g.45504499G=CA2392190715COL18A1,SLC19A1c.3351G= (p.Leu1117=)
c.2811G= (p.Leu937=)
c.852G= (p.Leu284=)
c.4056G= (p.Leu1352=)
c.498-5887C=
c.1294-5887C= (n.1294-5887C=)
c.1585-1530C= (n.1585-1530C=)
21g.45504499G>TCA512687158COL18A1,SLC19A1c.3351G>T (p.Leu1117=)
c.2811G>T (p.Leu937=)
c.852G>T (p.Leu284=)
c.4056G>T (p.Leu1352=)
c.498-5887C>A
c.1294-5887C>A (n.1294-5887C>A)
c.1585-1530C>A (n.1585-1530C>A)
21g.45504499_45504508delinsGCCCGGCCCCCA2392190716COL18A1,SLC19A1c.3351_3360delinsGCCCGGCCCC (p.Leu1117=)
c.2811_2820delinsGCCCGGCCCC (p.Leu937=)
c.852_861delinsGCCCGGCCCC (p.Leu284=)
c.4056_4065delinsGCCCGGCCCC (p.Leu1352=)
c.498-5896_498-5887delinsGGGGCCGGGC
c.1294-5896_1294-5887delinsGGGGCCGGGC (n.1294-5896_1294-5887delinsGGGGCCGGGC)
c.1585-1539_1585-1530delinsGGGGCCGGGC (n.1585-1539_1585-1530delinsGGGGCCGGGC)
21g.45504500C>ACA410499255COL18A1,SLC19A1c.3352C>A (p.Pro1118Thr)
c.2812C>A (p.Pro938Thr)
c.853C>A (p.Pro285Thr)
c.4057C>A (p.Pro1353Thr)
c.498-5888G>T
c.1294-5888G>T (n.1294-5888G>T)
c.1585-1531G>T (n.1585-1531G>T)
 dbSNP gnomAD v4
21g.45504500C=CA2392190717COL18A1,SLC19A1c.3352C= (p.Pro1118=)
c.2812C= (p.Pro938=)
c.853C= (p.Pro285=)
c.4057C= (p.Pro1353=)
c.498-5888G=
c.1294-5888G= (n.1294-5888G=)
c.1585-1531G= (n.1585-1531G=)
21g.45504500C>GCA410499256COL18A1,SLC19A1c.3352C>G (p.Pro1118Ala)
c.2812C>G (p.Pro938Ala)
c.853C>G (p.Pro285Ala)
c.4057C>G (p.Pro1353Ala)
c.498-5888G>C
c.1294-5888G>C (n.1294-5888G>C)
c.1585-1531G>C (n.1585-1531G>C)
21g.45504500C>TCA10067479COL18A1,SLC19A1c.3352C>T (p.Pro1118Ser)
c.2812C>T (p.Pro938Ser)
c.853C>T (p.Pro285Ser)
c.4057C>T (p.Pro1353Ser)
c.498-5888G>A
c.1294-5888G>A (n.1294-5888G>A)
c.1585-1531G>A (n.1585-1531G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45504511_45504519delCA10067477COL18A1,SLC19A1c.3363_3371del (p.Gly1122_Pro1124del)
c.2823_2831del (p.Gly942_Pro944del)
c.864_872del (p.Gly289_Pro291del)
c.4068_4076del (p.Gly1357_Pro1359del)
c.498-5896_498-5888del
c.1294-5896_1294-5888del (n.1294-5896_1294-5888del)
c.1585-1539_1585-1531del (n.1585-1539_1585-1531del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504501C>ACA410499257COL18A1,SLC19A1c.3353C>A (p.Pro1118His)
c.2813C>A (p.Pro938His)
c.854C>A (p.Pro285His)
c.4058C>A (p.Pro1353His)
c.498-5889G>T
c.1294-5889G>T (n.1294-5889G>T)
c.1585-1532G>T (n.1585-1532G>T)
21g.45504501C=CA2392190718COL18A1,SLC19A1c.3353C= (p.Pro1118=)
c.2813C= (p.Pro938=)
c.854C= (p.Pro285=)
c.4058C= (p.Pro1353=)
c.498-5889G=
c.1294-5889G= (n.1294-5889G=)
c.1585-1532G= (n.1585-1532G=)
21g.45504501C>GCA410499258COL18A1,SLC19A1c.3353C>G (p.Pro1118Arg)
c.2813C>G (p.Pro938Arg)
c.854C>G (p.Pro285Arg)
c.4058C>G (p.Pro1353Arg)
c.498-5889G>C
c.1294-5889G>C (n.1294-5889G>C)
c.1585-1532G>C (n.1585-1532G>C)
 ClinVar dbSNP
21g.45504501C>TCA410499259COL18A1,SLC19A1c.3353C>T (p.Pro1118Leu)
c.2813C>T (p.Pro938Leu)
c.854C>T (p.Pro285Leu)
c.4058C>T (p.Pro1353Leu)
c.498-5889G>A
c.1294-5889G>A (n.1294-5889G>A)
c.1585-1532G>A (n.1585-1532G>A)
21g.45504502C>ACA512687160COL18A1,SLC19A1c.3354C>A (p.Pro1118=)
c.2814C>A (p.Pro938=)
c.855C>A (p.Pro285=)
c.4059C>A (p.Pro1353=)
c.498-5890G>T
c.1294-5890G>T (n.1294-5890G>T)
c.1585-1533G>T (n.1585-1533G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45504502C=CA2392190719COL18A1,SLC19A1c.3354C= (p.Pro1118=)
c.2814C= (p.Pro938=)
c.855C= (p.Pro285=)
c.4059C= (p.Pro1353=)
c.498-5890G=
c.1294-5890G= (n.1294-5890G=)
c.1585-1533G= (n.1585-1533G=)
21g.45504502C>GCA512687159COL18A1,SLC19A1c.3354C>G (p.Pro1118=)
c.2814C>G (p.Pro938=)
c.855C>G (p.Pro285=)
c.4059C>G (p.Pro1353=)
c.498-5890G>C
c.1294-5890G>C (n.1294-5890G>C)
c.1585-1533G>C (n.1585-1533G>C)
 ClinVar dbSNP gnomAD v4
21g.45504502C>TCA10067481COL18A1,SLC19A1c.3354C>T (p.Pro1118=)
c.2814C>T (p.Pro938=)
c.855C>T (p.Pro285=)
c.4059C>T (p.Pro1353=)
c.498-5890G>A
c.1294-5890G>A (n.1294-5890G>A)
c.1585-1533G>A (n.1585-1533G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
21g.45504502_45504520delinsCGGCCCCCCCGGCCCCCCACA2392190720COL18A1,SLC19A1c.3354_3372delinsCGGCCCCCCCGGCCCCCCA (p.Pro1118=)
c.2814_2832delinsCGGCCCCCCCGGCCCCCCA (p.Pro938=)
c.855_873delinsCGGCCCCCCCGGCCCCCCA (p.Pro285=)
c.4059_4077delinsCGGCCCCCCCGGCCCCCCA (p.Pro1353=)
c.498-5908_498-5890delinsTGGGGGGCCGGGGGGGCCG
c.1294-5908_1294-5890delinsTGGGGGGCCGGGGGGGCCG (n.1294-5908_1294-5890delinsTGGGGGGCCGGGGGGGCCG)
c.1585-1551_1585-1533delinsTGGGGGGCCGGGGGGGCCG (n.1585-1551_1585-1533delinsTGGGGGGCCGGGGGGGCCG)
21g.45504503G>ACA10067482COL18A1,SLC19A1c.3355G>A (p.Gly1119Ser)
c.2815G>A (p.Gly939Ser)
c.856G>A (p.Gly286Ser)
c.4060G>A (p.Gly1354Ser)
c.498-5891C>T
c.1294-5891C>T (n.1294-5891C>T)
c.1585-1534C>T (n.1585-1534C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504503G>CCA410499261COL18A1,SLC19A1c.3355G>C (p.Gly1119Arg)
c.2815G>C (p.Gly939Arg)
c.856G>C (p.Gly286Arg)
c.4060G>C (p.Gly1354Arg)
c.498-5891C>G
c.1294-5891C>G (n.1294-5891C>G)
c.1585-1534C>G (n.1585-1534C>G)
21g.45504503G=CA2392190721COL18A1,SLC19A1c.3355G= (p.Gly1119=)
c.2815G= (p.Gly939=)
c.856G= (p.Gly286=)
c.4060G= (p.Gly1354=)
c.498-5891C=
c.1294-5891C= (n.1294-5891C=)
c.1585-1534C= (n.1585-1534C=)
21g.45504503G>TCA410499260COL18A1,SLC19A1c.3355G>T (p.Gly1119Cys)
c.2815G>T (p.Gly939Cys)
c.856G>T (p.Gly286Cys)
c.4060G>T (p.Gly1354Cys)
c.498-5891C>A
c.1294-5891C>A (n.1294-5891C>A)
c.1585-1534C>A (n.1585-1534C>A)
21g.45504511_45504528delCA10067480COL18A1,SLC19A1c.3363_3380del (p.Gly1122_Pro1127del)
c.2823_2840del (p.Gly942_Pro947del)
c.864_881del (p.Gly289_Pro294del)
c.4068_4085del (p.Gly1357_Pro1362del)
c.498-5908_498-5891del
c.1294-5908_1294-5891del (n.1294-5908_1294-5891del)
c.1585-1551_1585-1534del (n.1585-1551_1585-1534del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
21g.45504504G>ACA410499262COL18A1,SLC19A1c.3356G>A (p.Gly1119Asp)
c.2816G>A (p.Gly939Asp)
c.857G>A (p.Gly286Asp)
c.4061G>A (p.Gly1354Asp)
c.498-5892C>T
c.1294-5892C>T (n.1294-5892C>T)
c.1585-1535C>T (n.1585-1535C>T)
 gnomAD v2 gnomAD v4
21g.45504504G>CCA410499263COL18A1,SLC19A1c.3356G>C (p.Gly1119Ala)
c.2816G>C (p.Gly939Ala)
c.857G>C (p.Gly286Ala)
c.4061G>C (p.Gly1354Ala)
c.498-5892C>G
c.1294-5892C>G (n.1294-5892C>G)
c.1585-1535C>G (n.1585-1535C>G)
 gnomAD v3 gnomAD v4
21g.45504504G>TCA410499264COL18A1,SLC19A1c.3356G>T (p.Gly1119Val)
c.2816G>T (p.Gly939Val)
c.857G>T (p.Gly286Val)
c.4061G>T (p.Gly1354Val)
c.498-5892C>A
c.1294-5892C>A (n.1294-5892C>A)
c.1585-1535C>A (n.1585-1535C>A)
21g.45504504_45504505delinsGCCA2392190722COL18A1,SLC19A1c.3356_3357delinsGC (p.Gly1119=)
c.2816_2817delinsGC (p.Gly939=)
c.857_858delinsGC (p.Gly286=)
c.4061_4062delinsGC (p.Gly1354=)
c.498-5893_498-5892delinsGC
c.1294-5893_1294-5892delinsGC (n.1294-5893_1294-5892delinsGC)
c.1585-1536_1585-1535delinsGC (n.1585-1536_1585-1535delinsGC)
21g.45504505_45504512delCA2654918203COL18A1,SLC19A1c.3357_3364del (p.Gly1122ArgfsTer?)
c.2817_2824del (p.Gly942ArgfsTer?)
c.858_865del (p.Gly289ArgfsTer?)
c.4062_4069del (p.Gly1357ArgfsTer?)
c.498-5899_498-5892del
c.1294-5899_1294-5892del (n.1294-5899_1294-5892del)
c.1585-1542_1585-1535del (n.1585-1542_1585-1535del)
 gnomAD v4
21g.45504504_45504505insTCA2573334926COL18A1,SLC19A1c.3356_3357insT (p.Gly1122ArgfsTer?)
c.2816_2817insT (p.Gly942ArgfsTer?)
c.857_858insT (p.Gly289ArgfsTer?)
c.4061_4062insT (p.Gly1357ArgfsTer?)
c.498-5893_498-5892insA
c.1294-5893_1294-5892insA (n.1294-5893_1294-5892insA)
c.1585-1536_1585-1535insA (n.1585-1536_1585-1535insA)
21g.45504505C>ACA512687161COL18A1,SLC19A1c.3357C>A (p.Gly1119=)
c.2817C>A (p.Gly939=)
c.858C>A (p.Gly286=)
c.4062C>A (p.Gly1354=)
c.498-5893G>T
c.1294-5893G>T (n.1294-5893G>T)
c.1585-1536G>T (n.1585-1536G>T)
 gnomAD v4
21g.45504505C=CA2392190725COL18A1,SLC19A1c.3357C= (p.Gly1119=)
c.2817C= (p.Gly939=)
c.858C= (p.Gly286=)
c.4062C= (p.Gly1354=)
c.498-5893G=
c.1294-5893G= (n.1294-5893G=)
c.1585-1536G= (n.1585-1536G=)
21g.45504505C>GCA512687162COL18A1,SLC19A1c.3357C>G (p.Gly1119=)
c.2817C>G (p.Gly939=)
c.858C>G (p.Gly286=)
c.4062C>G (p.Gly1354=)
c.498-5893G>C
c.1294-5893G>C (n.1294-5893G>C)
c.1585-1536G>C (n.1585-1536G>C)
21g.45504505C>TCA321921213COL18A1,SLC19A1c.3357C>T (p.Gly1119=)
c.2817C>T (p.Gly939=)
c.858C>T (p.Gly286=)
c.4062C>T (p.Gly1354=)
c.498-5893G>A
c.1294-5893G>A (n.1294-5893G>A)
c.1585-1536G>A (n.1585-1536G>A)
 ClinVar dbSNP gnomAD v4
21g.45504511dupCA10575533COL18A1,SLC19A1c.3363dup (p.Gly1122ArgfsTer?)
c.2823dup (p.Gly942ArgfsTer?)
c.864dup (p.Gly289ArgfsTer?)
c.4068dup (p.Gly1357ArgfsTer?)
c.498-5893dup
c.1294-5893dup (n.1294-5893dup)
c.1585-1536dup (n.1585-1536dup)
 ClinVar dbSNP
21g.45504511delCA10067483COL18A1,SLC19A1c.3363del (p.Gly1122AlafsTer?)
c.2823del (p.Gly942AlafsTer?)
c.864del (p.Gly289AlafsTer?)
c.4068del (p.Gly1357AlafsTer?)
c.498-5893del
c.1294-5893del (n.1294-5893del)
c.1585-1536del (n.1585-1536del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504505_45504513delinsCCCCCCCGGCA2392190724COL18A1,SLC19A1c.3357_3365delinsCCCCCCCGG (p.Gly1119=)
c.2817_2825delinsCCCCCCCGG (p.Gly939=)
c.858_866delinsCCCCCCCGG (p.Gly286=)
c.4062_4070delinsCCCCCCCGG (p.Gly1354=)
c.498-5901_498-5893delinsCCGGGGGGG
c.1294-5901_1294-5893delinsCCGGGGGGG (n.1294-5901_1294-5893delinsCCGGGGGGG)
c.1585-1544_1585-1536delinsCCGGGGGGG (n.1585-1544_1585-1536delinsCCGGGGGGG)
21g.45504505_45504522delinsCCCCCCCGGCCCCCCAGGCA2392190723COL18A1,SLC19A1c.3357_3374delinsCCCCCCCGGCCCCCCAGG (p.Gly1119=)
c.2817_2834delinsCCCCCCCGGCCCCCCAGG (p.Gly939=)
c.858_875delinsCCCCCCCGGCCCCCCAGG (p.Gly286=)
c.4062_4079delinsCCCCCCCGGCCCCCCAGG (p.Gly1354=)
c.498-5910_498-5893delinsCCTGGGGGGCCGGGGGGG
c.1294-5910_1294-5893delinsCCTGGGGGGCCGGGGGGG (n.1294-5910_1294-5893delinsCCTGGGGGGCCGGGGGGG)
c.1585-1553_1585-1536delinsCCTGGGGGGCCGGGGGGG (n.1585-1553_1585-1536delinsCCTGGGGGGCCGGGGGGG)
21g.45504506C>ACA10067487COL18A1,SLC19A1c.3358C>A (p.Pro1120Thr)
c.2818C>A (p.Pro940Thr)
c.859C>A (p.Pro287Thr)
c.4063C>A (p.Pro1355Thr)
c.498-5894G>T
c.1294-5894G>T (n.1294-5894G>T)
c.1585-1537G>T (n.1585-1537G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504506C=CA2392190727COL18A1,SLC19A1c.3358C= (p.Pro1120=)
c.2818C= (p.Pro940=)
c.859C= (p.Pro287=)
c.4063C= (p.Pro1355=)
c.498-5894G=
c.1294-5894G= (n.1294-5894G=)
c.1585-1537G= (n.1585-1537G=)
21g.45504506C>GCA410499266COL18A1,SLC19A1c.3358C>G (p.Pro1120Ala)
c.2818C>G (p.Pro940Ala)
c.859C>G (p.Pro287Ala)
c.4063C>G (p.Pro1355Ala)
c.498-5894G>C
c.1294-5894G>C (n.1294-5894G>C)
c.1585-1537G>C (n.1585-1537G>C)
 dbSNP
21g.45504506C>TCA410499265COL18A1,SLC19A1c.3358C>T (p.Pro1120Ser)
c.2818C>T (p.Pro940Ser)
c.859C>T (p.Pro287Ser)
c.4063C>T (p.Pro1355Ser)
c.498-5894G>A
c.1294-5894G>A (n.1294-5894G>A)
c.1585-1537G>A (n.1585-1537G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45504506_45504512delCA2654918235COL18A1,SLC19A1c.3358_3364del (p.Pro1120AlafsTer?)
c.2818_2824del (p.Pro940AlafsTer?)
c.859_865del (p.Pro287AlafsTer?)
c.4063_4069del (p.Pro1355AlafsTer?)
c.498-5900_498-5894del
c.1294-5900_1294-5894del (n.1294-5900_1294-5894del)
c.1585-1543_1585-1537del (n.1585-1543_1585-1537del)
 gnomAD v4
21g.45504506_45504512delinsCCCCCCGCA2392190726COL18A1,SLC19A1c.3358_3364delinsCCCCCCG (p.Pro1120=)
c.2818_2824delinsCCCCCCG (p.Pro940=)
c.859_865delinsCCCCCCG (p.Pro287=)
c.4063_4069delinsCCCCCCG (p.Pro1355=)
c.498-5900_498-5894delinsCGGGGGG
c.1294-5900_1294-5894delinsCGGGGGG (n.1294-5900_1294-5894delinsCGGGGGG)
c.1585-1543_1585-1537delinsCGGGGGG (n.1585-1543_1585-1537delinsCGGGGGG)
21g.45504512_45504519delCA10067484COL18A1,SLC19A1c.3364_3371del (p.Gly1122ArgfsTer?)
c.2824_2831del (p.Gly942ArgfsTer?)
c.865_872del (p.Gly289ArgfsTer?)
c.4069_4076del (p.Gly1357ArgfsTer?)
c.498-5901_498-5894del
c.1294-5901_1294-5894del (n.1294-5901_1294-5894del)
c.1585-1544_1585-1537del (n.1585-1544_1585-1537del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504512_45504528delCA10067485COL18A1,SLC19A1c.3364_3380del (p.Gly1122ArgfsTer?)
c.2824_2840del (p.Gly942ArgfsTer?)
c.865_881del (p.Gly289ArgfsTer?)
c.4069_4085del (p.Gly1357ArgfsTer?)
c.498-5910_498-5894del
c.1294-5910_1294-5894del (n.1294-5910_1294-5894del)
c.1585-1553_1585-1537del (n.1585-1553_1585-1537del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504507C>ACA410499267COL18A1,SLC19A1c.3359C>A (p.Pro1120His)
c.2819C>A (p.Pro940His)
c.860C>A (p.Pro287His)
c.4064C>A (p.Pro1355His)
c.498-5895G>T
c.1294-5895G>T (n.1294-5895G>T)
c.1585-1538G>T (n.1585-1538G>T)
 dbSNP gnomAD v2 gnomAD v4
21g.45504507C=CA2392190728COL18A1,SLC19A1c.3359C= (p.Pro1120=)
c.2819C= (p.Pro940=)
c.860C= (p.Pro287=)
c.4064C= (p.Pro1355=)
c.498-5895G=
c.1294-5895G= (n.1294-5895G=)
c.1585-1538G= (n.1585-1538G=)
21g.45504507C>GCA10067488COL18A1,SLC19A1c.3359C>G (p.Pro1120Arg)
c.2819C>G (p.Pro940Arg)
c.860C>G (p.Pro287Arg)
c.4064C>G (p.Pro1355Arg)
c.498-5895G>C
c.1294-5895G>C (n.1294-5895G>C)
c.1585-1538G>C (n.1585-1538G>C)
 ClinVar dbSNP ExAC gnomAD v2
21g.45504507C>TCA10067489COL18A1,SLC19A1c.3359C>T (p.Pro1120Leu)
c.2819C>T (p.Pro940Leu)
c.860C>T (p.Pro287Leu)
c.4064C>T (p.Pro1355Leu)
c.498-5895G>A
c.1294-5895G>A (n.1294-5895G>A)
c.1585-1538G>A (n.1585-1538G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504507_45504512delCA10067486COL18A1,SLC19A1c.3359_3364del (p.Pro1120_Gly1122delinsArg)
c.2819_2824del (p.Pro940_Gly942delinsArg)
c.860_865del (p.Pro287_Gly289delinsArg)
c.4064_4069del (p.Pro1355_Gly1357delinsArg)
c.498-5900_498-5895del
c.1294-5900_1294-5895del (n.1294-5900_1294-5895del)
c.1585-1543_1585-1538del (n.1585-1543_1585-1538del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504508C>ACA512687163COL18A1,SLC19A1c.3360C>A (p.Pro1120=)
c.2820C>A (p.Pro940=)
c.861C>A (p.Pro287=)
c.4065C>A (p.Pro1355=)
c.498-5896G>T
c.1294-5896G>T (n.1294-5896G>T)
c.1585-1539G>T (n.1585-1539G>T)
 gnomAD v2 gnomAD v4
21g.45504508C=CA2392190730COL18A1,SLC19A1c.3360C= (p.Pro1120=)
c.2820C= (p.Pro940=)
c.861C= (p.Pro287=)
c.4065C= (p.Pro1355=)
c.498-5896G=
c.1294-5896G= (n.1294-5896G=)
c.1585-1539G= (n.1585-1539G=)
21g.45504508C>GCA512687164COL18A1,SLC19A1c.3360C>G (p.Pro1120=)
c.2820C>G (p.Pro940=)
c.861C>G (p.Pro287=)
c.4065C>G (p.Pro1355=)
c.498-5896G>C
c.1294-5896G>C (n.1294-5896G>C)
c.1585-1539G>C (n.1585-1539G>C)
21g.45504508C>TCA512687165COL18A1,SLC19A1c.3360C>T (p.Pro1120=)
c.2820C>T (p.Pro940=)
c.861C>T (p.Pro287=)
c.4065C>T (p.Pro1355=)
c.498-5896G>A
c.1294-5896G>A (n.1294-5896G>A)
c.1585-1539G>A (n.1585-1539G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.45504508_45504512delinsCCCCGCA2392190729COL18A1,SLC19A1c.3360_3364delinsCCCCG (p.Pro1120=)
c.2820_2824delinsCCCCG (p.Pro940=)
c.861_865delinsCCCCG (p.Pro287=)
c.4065_4069delinsCCCCG (p.Pro1355=)
c.498-5900_498-5896delinsCGGGG
c.1294-5900_1294-5896delinsCGGGG (n.1294-5900_1294-5896delinsCGGGG)
c.1585-1543_1585-1539delinsCGGGG (n.1585-1543_1585-1539delinsCGGGG)
21g.45504509C>ACA410499268COL18A1,SLC19A1c.3361C>A (p.Pro1121Thr)
c.2821C>A (p.Pro941Thr)
c.862C>A (p.Pro288Thr)
c.4066C>A (p.Pro1356Thr)
c.498-5897G>T
c.1294-5897G>T (n.1294-5897G>T)
c.1585-1540G>T (n.1585-1540G>T)
 dbSNP gnomAD v4
21g.45504509C=CA2392190732COL18A1,SLC19A1c.3361C= (p.Pro1121=)
c.2821C= (p.Pro941=)
c.862C= (p.Pro288=)
c.4066C= (p.Pro1356=)
c.498-5897G=
c.1294-5897G= (n.1294-5897G=)
c.1585-1540G= (n.1585-1540G=)
21g.45504509C>GCA321921214COL18A1,SLC19A1c.3361C>G (p.Pro1121Ala)
c.2821C>G (p.Pro941Ala)
c.862C>G (p.Pro288Ala)
c.4066C>G (p.Pro1356Ala)
c.498-5897G>C
c.1294-5897G>C (n.1294-5897G>C)
c.1585-1540G>C (n.1585-1540G>C)
 ClinVar dbSNP
21g.45504509C>TCA321921215COL18A1,SLC19A1c.3361C>T (p.Pro1121Ser)
c.2821C>T (p.Pro941Ser)
c.862C>T (p.Pro288Ser)
c.4066C>T (p.Pro1356Ser)
c.498-5897G>A
c.1294-5897G>A (n.1294-5897G>A)
c.1585-1540G>A (n.1585-1540G>A)
 dbSNP gnomAD v3 gnomAD v4
21g.45504509_45504512delCA10067490COL18A1,SLC19A1c.3361_3364del (p.Pro1121AlafsTer?)
c.2821_2824del (p.Pro941AlafsTer?)
c.862_865del (p.Pro288AlafsTer?)
c.4066_4069del (p.Pro1356AlafsTer?)
c.498-5900_498-5897del
c.1294-5900_1294-5897del (n.1294-5900_1294-5897del)
c.1585-1543_1585-1540del (n.1585-1543_1585-1540del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504509_45504520delinsCCCGGCCCCCCACA2392190731COL18A1,SLC19A1c.3361_3372delinsCCCGGCCCCCCA (p.Pro1121=)
c.2821_2832delinsCCCGGCCCCCCA (p.Pro941=)
c.862_873delinsCCCGGCCCCCCA (p.Pro288=)
c.4066_4077delinsCCCGGCCCCCCA (p.Pro1356=)
c.498-5908_498-5897delinsTGGGGGGCCGGG
c.1294-5908_1294-5897delinsTGGGGGGCCGGG (n.1294-5908_1294-5897delinsTGGGGGGCCGGG)
c.1585-1551_1585-1540delinsTGGGGGGCCGGG (n.1585-1551_1585-1540delinsTGGGGGGCCGGG)
21g.45504510C>ACA410499269COL18A1,SLC19A1c.3362C>A (p.Pro1121His)
c.2822C>A (p.Pro941His)
c.863C>A (p.Pro288His)
c.4067C>A (p.Pro1356His)
c.498-5898G>T
c.1294-5898G>T (n.1294-5898G>T)
c.1585-1541G>T (n.1585-1541G>T)
 dbSNP gnomAD v2 gnomAD v4
21g.45504510C=CA2392190733COL18A1,SLC19A1c.3362C= (p.Pro1121=)
c.2822C= (p.Pro941=)
c.863C= (p.Pro288=)
c.4067C= (p.Pro1356=)
c.498-5898G=
c.1294-5898G= (n.1294-5898G=)
c.1585-1541G= (n.1585-1541G=)
21g.45504510C>GCA410499270COL18A1,SLC19A1c.3362C>G (p.Pro1121Arg)
c.2822C>G (p.Pro941Arg)
c.863C>G (p.Pro288Arg)
c.4067C>G (p.Pro1356Arg)
c.498-5898G>C
c.1294-5898G>C (n.1294-5898G>C)
c.1585-1541G>C (n.1585-1541G>C)
 ClinVar dbSNP
21g.45504510C>TCA321921216COL18A1,SLC19A1c.3362C>T (p.Pro1121Leu)
c.2822C>T (p.Pro941Leu)
c.863C>T (p.Pro288Leu)
c.4067C>T (p.Pro1356Leu)
c.498-5898G>A
c.1294-5898G>A (n.1294-5898G>A)
c.1585-1541G>A (n.1585-1541G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45504510_45504520delCA638497337COL18A1,SLC19A1c.3362_3372del (p.Pro1121ArgfsTer?)
c.2822_2832del (p.Pro941ArgfsTer?)
c.863_873del (p.Pro288ArgfsTer?)
c.4067_4077del (p.Pro1356ArgfsTer?)
c.498-5908_498-5898del
c.1294-5908_1294-5898del (n.1294-5908_1294-5898del)
c.1585-1551_1585-1541del (n.1585-1551_1585-1541del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45504510_45504520delinsCCGGCCCCCCACA2392190734COL18A1,SLC19A1c.3362_3372delinsCCGGCCCCCCA (p.Pro1121=)
c.2822_2832delinsCCGGCCCCCCA (p.Pro941=)
c.863_873delinsCCGGCCCCCCA (p.Pro288=)
c.4067_4077delinsCCGGCCCCCCA (p.Pro1356=)
c.498-5908_498-5898delinsTGGGGGGCCGG
c.1294-5908_1294-5898delinsTGGGGGGCCGG (n.1294-5908_1294-5898delinsTGGGGGGCCGG)
c.1585-1551_1585-1541delinsTGGGGGGCCGG (n.1585-1551_1585-1541delinsTGGGGGGCCGG)
21g.45504511C>ACA10644821COL18A1,SLC19A1c.3363C>A (p.Pro1121=)
c.2823C>A (p.Pro941=)
c.864C>A (p.Pro288=)
c.4068C>A (p.Pro1356=)
c.498-5899G>T
c.1294-5899G>T (n.1294-5899G>T)
c.1585-1542G>T (n.1585-1542G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.45504511C=CA2392190737COL18A1,SLC19A1c.3363C= (p.Pro1121=)
c.2823C= (p.Pro941=)
c.864C= (p.Pro288=)
c.4068C= (p.Pro1356=)
c.498-5899G=
c.1294-5899G= (n.1294-5899G=)
c.1585-1542G= (n.1585-1542G=)
21g.45504511C>GCA512687166COL18A1,SLC19A1c.3363C>G (p.Pro1121=)
c.2823C>G (p.Pro941=)
c.864C>G (p.Pro288=)
c.4068C>G (p.Pro1356=)
c.498-5899G>C
c.1294-5899G>C (n.1294-5899G>C)
c.1585-1542G>C (n.1585-1542G>C)
21g.45504511C>TCA512687167COL18A1,SLC19A1c.3363C>T (p.Pro1121=)
c.2823C>T (p.Pro941=)
c.864C>T (p.Pro288=)
c.4068C>T (p.Pro1356=)
c.498-5899G>A
c.1294-5899G>A (n.1294-5899G>A)
c.1585-1542G>A (n.1585-1542G>A)
 dbSNP
21g.45504511_45504513delinsCGGCA2392190736COL18A1,SLC19A1c.3363_3365delinsCGG (p.Pro1121=)
c.2823_2825delinsCGG (p.Pro941=)
c.864_866delinsCGG (p.Pro288=)
c.4068_4070delinsCGG (p.Pro1356=)
c.498-5901_498-5899delinsCCG
c.1294-5901_1294-5899delinsCCG (n.1294-5901_1294-5899delinsCCG)
c.1585-1544_1585-1542delinsCCG (n.1585-1544_1585-1542delinsCCG)
21g.45504511_45504520delCA512687168COL18A1,SLC19A1c.3363_3372del (p.Gly1122AlafsTer?)
c.2823_2832del (p.Gly942AlafsTer?)
c.864_873del (p.Gly289AlafsTer?)
c.4068_4077del (p.Gly1357AlafsTer?)
c.498-5908_498-5899del
c.1294-5908_1294-5899del (n.1294-5908_1294-5899del)
c.1585-1551_1585-1542del (n.1585-1551_1585-1542del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.45504511_45504520delinsCGGCCCCCCACA2497029955COL18A1,SLC19A1c.3363_3372delinsCGGCCCCCCA (p.Pro1121=)
c.2823_2832delinsCGGCCCCCCA (p.Pro941=)
c.864_873delinsCGGCCCCCCA (p.Pro288=)
c.4068_4077delinsCGGCCCCCCA (p.Pro1356=)
c.498-5908_498-5899delinsTGGGGGGCCG
c.1294-5908_1294-5899delinsTGGGGGGCCG (n.1294-5908_1294-5899delinsTGGGGGGCCG)
c.1585-1551_1585-1542delinsTGGGGGGCCG (n.1585-1551_1585-1542delinsTGGGGGGCCG)
21g.45504511_45504529delCA638497338COL18A1,SLC19A1c.3363_3381del (p.Gly1122AlafsTer?)
c.2823_2841del (p.Gly942AlafsTer?)
c.864_882del (p.Gly289AlafsTer?)
c.4068_4086del (p.Gly1357AlafsTer?)
c.498-5917_498-5899del
c.1294-5917_1294-5899del (n.1294-5917_1294-5899del)
c.1585-1560_1585-1542del (n.1585-1560_1585-1542del)
 dbSNP gnomAD v2 gnomAD v4
21g.45504511_45504529delinsCGGCCCCCCAGGCCCCCCACA2392190735COL18A1,SLC19A1c.3363_3381delinsCGGCCCCCCAGGCCCCCCA (p.Pro1121=)
c.2823_2841delinsCGGCCCCCCAGGCCCCCCA (p.Pro941=)
c.864_882delinsCGGCCCCCCAGGCCCCCCA (p.Pro288=)
c.4068_4086delinsCGGCCCCCCAGGCCCCCCA (p.Pro1356=)
c.498-5917_498-5899delinsTGGGGGGCCTGGGGGGCCG
c.1294-5917_1294-5899delinsTGGGGGGCCTGGGGGGCCG (n.1294-5917_1294-5899delinsTGGGGGGCCTGGGGGGCCG)
c.1585-1560_1585-1542delinsTGGGGGGCCTGGGGGGCCG (n.1585-1560_1585-1542delinsTGGGGGGCCTGGGGGGCCG)
21g.45504511_45504512insACA1022823855COL18A1,SLC19A1c.3363_3364insA (p.Gly1122ArgfsTer?)
c.2823_2824insA (p.Gly942ArgfsTer?)
c.864_865insA (p.Gly289ArgfsTer?)
c.4068_4069insA (p.Gly1357ArgfsTer?)
c.498-5900_498-5899insT
c.1294-5900_1294-5899insT (n.1294-5900_1294-5899insT)
c.1585-1543_1585-1542insT (n.1585-1543_1585-1542insT)
 gnomAD v3 gnomAD v4
21g.45504512G>ACA410499271COL18A1,SLC19A1c.3364G>A (p.Gly1122Ser)
c.2824G>A (p.Gly942Ser)
c.865G>A (p.Gly289Ser)
c.4069G>A (p.Gly1357Ser)
c.498-5900C>T
c.1294-5900C>T (n.1294-5900C>T)
c.1585-1543C>T (n.1585-1543C>T)
 dbSNP
21g.45504512G>CCA410499272COL18A1,SLC19A1c.3364G>C (p.Gly1122Arg)
c.2824G>C (p.Gly942Arg)
c.865G>C (p.Gly289Arg)
c.4069G>C (p.Gly1357Arg)
c.498-5900C>G
c.1294-5900C>G (n.1294-5900C>G)
c.1585-1543C>G (n.1585-1543C>G)
 gnomAD v4
21g.45504512G=CA2392190740COL18A1,SLC19A1c.3364G= (p.Gly1122=)
c.2824G= (p.Gly942=)
c.865G= (p.Gly289=)
c.4069G= (p.Gly1357=)
c.498-5900C=
c.1294-5900C= (n.1294-5900C=)
c.1585-1543C= (n.1585-1543C=)
21g.45504512G>TCA410499273COL18A1,SLC19A1c.3364G>T (p.Gly1122Cys)
c.2824G>T (p.Gly942Cys)
c.865G>T (p.Gly289Cys)
c.4069G>T (p.Gly1357Cys)
c.498-5900C>A
c.1294-5900C>A (n.1294-5900C>A)
c.1585-1543C>A (n.1585-1543C>A)
21g.45504512_45504513delCA10067493COL18A1,SLC19A1c.3364_3365del (p.Gly1122ProfsTer?)
c.2824_2825del (p.Gly942ProfsTer?)
c.865_866del (p.Gly289ProfsTer?)
c.4069_4070del (p.Gly1357ProfsTer?)
c.498-5901_498-5900del
c.1294-5901_1294-5900del (n.1294-5901_1294-5900del)
c.1585-1544_1585-1543del (n.1585-1544_1585-1543del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504512_45504519delinsGGCCCCCCCA2392190738COL18A1,SLC19A1c.3364_3371delinsGGCCCCCC (p.Gly1122=)
c.2824_2831delinsGGCCCCCC (p.Gly942=)
c.865_872delinsGGCCCCCC (p.Gly289=)
c.4069_4076delinsGGCCCCCC (p.Gly1357=)
c.498-5907_498-5900delinsGGGGGGCC
c.1294-5907_1294-5900delinsGGGGGGCC (n.1294-5907_1294-5900delinsGGGGGGCC)
c.1585-1550_1585-1543delinsGGGGGGCC (n.1585-1550_1585-1543delinsGGGGGGCC)
21g.45504512_45504520delinsGGCCCCCCACA2392190741COL18A1,SLC19A1c.3364_3372delinsGGCCCCCCA (p.Gly1122=)
c.2824_2832delinsGGCCCCCCA (p.Gly942=)
c.865_873delinsGGCCCCCCA (p.Gly289=)
c.4069_4077delinsGGCCCCCCA (p.Gly1357=)
c.498-5908_498-5900delinsTGGGGGGCC
c.1294-5908_1294-5900delinsTGGGGGGCC (n.1294-5908_1294-5900delinsTGGGGGGCC)
c.1585-1551_1585-1543delinsTGGGGGGCC (n.1585-1551_1585-1543delinsTGGGGGGCC)
21g.45504513_45504522delCA2577627023COL18A1,SLC19A1c.3365_3374del (p.Gly1122AlafsTer?)
c.2825_2834del (p.Gly942AlafsTer?)
c.866_875del (p.Gly289AlafsTer?)
c.4070_4079del (p.Gly1357AlafsTer?)
c.498-5909_498-5900del
c.1294-5909_1294-5900del (n.1294-5909_1294-5900del)
c.1585-1552_1585-1543del (n.1585-1552_1585-1543del)
21g.45504512_45504529delinsGGCCCCCCAGGCCCCCCACA2392190739COL18A1,SLC19A1c.3364_3381delinsGGCCCCCCAGGCCCCCCA (p.Gly1122=)
c.2824_2841delinsGGCCCCCCAGGCCCCCCA (p.Gly942=)
c.865_882delinsGGCCCCCCAGGCCCCCCA (p.Gly289=)
c.4069_4086delinsGGCCCCCCAGGCCCCCCA (p.Gly1357=)
c.498-5917_498-5900delinsTGGGGGGCCTGGGGGGCC
c.1294-5917_1294-5900delinsTGGGGGGCCTGGGGGGCC (n.1294-5917_1294-5900delinsTGGGGGGCCTGGGGGGCC)
c.1585-1560_1585-1543delinsTGGGGGGCCTGGGGGGCC (n.1585-1560_1585-1543delinsTGGGGGGCCTGGGGGGCC)
21g.45504526_45504534delCA10067491COL18A1,SLC19A1c.3378_3386del (p.Pro1127_Pro1129del)
c.2838_2846del (p.Pro947_Pro949del)
c.879_887del (p.Pro294_Pro296del)
c.4083_4091del (p.Pro1362_Pro1364del)
c.498-5908_498-5900del
c.1294-5908_1294-5900del (n.1294-5908_1294-5900del)
c.1585-1551_1585-1543del (n.1585-1551_1585-1543del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
21g.45504517_45504534delCA10067492COL18A1,SLC19A1c.3369_3386del (p.Pro1124_Pro1129del)
c.2829_2846del (p.Pro944_Pro949del)
c.870_887del (p.Pro291_Pro296del)
c.4074_4091del (p.Pro1359_Pro1364del)
c.498-5917_498-5900del
c.1294-5917_1294-5900del (n.1294-5917_1294-5900del)
c.1585-1560_1585-1543del (n.1585-1560_1585-1543del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504513G>ACA410499276COL18A1,SLC19A1c.3365G>A (p.Gly1122Asp)
c.2825G>A (p.Gly942Asp)
c.866G>A (p.Gly289Asp)
c.4070G>A (p.Gly1357Asp)
c.498-5901C>T
c.1294-5901C>T (n.1294-5901C>T)
c.1585-1544C>T (n.1585-1544C>T)
21g.45504513G>CCA410499275COL18A1,SLC19A1c.3365G>C (p.Gly1122Ala)
c.2825G>C (p.Gly942Ala)
c.866G>C (p.Gly289Ala)
c.4070G>C (p.Gly1357Ala)
c.498-5901C>G
c.1294-5901C>G (n.1294-5901C>G)
c.1585-1544C>G (n.1585-1544C>G)
21g.45504513G=CA2392190743COL18A1,SLC19A1c.3365G= (p.Gly1122=)
c.2825G= (p.Gly942=)
c.866G= (p.Gly289=)
c.4070G= (p.Gly1357=)
c.498-5901C=
c.1294-5901C= (n.1294-5901C=)
c.1585-1544C= (n.1585-1544C=)
21g.45504513G>TCA410499274COL18A1,SLC19A1c.3365G>T (p.Gly1122Val)
c.2825G>T (p.Gly942Val)
c.866G>T (p.Gly289Val)
c.4070G>T (p.Gly1357Val)
c.498-5901C>A
c.1294-5901C>A (n.1294-5901C>A)
c.1585-1544C>A (n.1585-1544C>A)
 dbSNP
21g.45504513_45504514delinsGCCA2392190742COL18A1,SLC19A1c.3365_3366delinsGC (p.Gly1122=)
c.2825_2826delinsGC (p.Gly942=)
c.866_867delinsGC (p.Gly289=)
c.4070_4071delinsGC (p.Gly1357=)
c.498-5902_498-5901delinsGC
c.1294-5902_1294-5901delinsGC (n.1294-5902_1294-5901delinsGC)
c.1585-1545_1585-1544delinsGC (n.1585-1545_1585-1544delinsGC)
21g.45504513_45504519delCA1022823867COL18A1,SLC19A1c.3365_3371del (p.Gly1122GlufsTer?)
c.2825_2831del (p.Gly942GlufsTer?)
c.866_872del (p.Gly289GlufsTer?)
c.4070_4076del (p.Gly1357GlufsTer?)
c.498-5907_498-5901del
c.1294-5907_1294-5901del (n.1294-5907_1294-5901del)
c.1585-1550_1585-1544del (n.1585-1550_1585-1544del)
 dbSNP gnomAD v3 gnomAD v4
21g.45504514_45504521delCA10067494COL18A1,SLC19A1c.3366_3373del (p.Gly1125ArgfsTer?)
c.2826_2833del (p.Gly945ArgfsTer?)
c.867_874del (p.Gly292ArgfsTer?)
c.4071_4078del (p.Gly1360ArgfsTer?)
c.498-5908_498-5901del
c.1294-5908_1294-5901del (n.1294-5908_1294-5901del)
c.3366_3373del (p.Pro1124ThrfsTer?)
c.4071_4078del (p.Pro1359ThrfsTer?)
c.2826_2833del (p.Pro944ThrfsTer?)
c.1585-1551_1585-1544del (n.1585-1551_1585-1544del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504514_45504530delCA1022823871COL18A1,SLC19A1c.3366_3382del (p.Pro1124ThrfsTer?)
c.2826_2842del (p.Pro944ThrfsTer?)
c.867_883del (p.Pro291ThrfsTer?)
c.4071_4087del (p.Pro1359ThrfsTer?)
c.498-5917_498-5901del
c.1294-5917_1294-5901del (n.1294-5917_1294-5901del)
c.1585-1560_1585-1544del (n.1585-1560_1585-1544del)
 dbSNP gnomAD v3 gnomAD v4
21g.45504513_45504514insGCTCA2654918347COL18A1,SLC19A1c.3365_3366insGCT (p.Gly1122_Pro1123insLeu)
c.2825_2826insGCT (p.Gly942_Pro943insLeu)
c.866_867insGCT (p.Gly289_Pro290insLeu)
c.4070_4071insGCT (p.Gly1357_Pro1358insLeu)
c.498-5902_498-5901insAGC
c.1294-5902_1294-5901insAGC (n.1294-5902_1294-5901insAGC)
c.1585-1545_1585-1544insAGC (n.1585-1545_1585-1544insAGC)
 gnomAD v4
21g.45504514C>ACA512687169COL18A1,SLC19A1c.3366C>A (p.Gly1122=)
c.2826C>A (p.Gly942=)
c.867C>A (p.Gly289=)
c.4071C>A (p.Gly1357=)
c.498-5902G>T
c.1294-5902G>T (n.1294-5902G>T)
c.1585-1545G>T (n.1585-1545G>T)
 gnomAD v4
21g.45504514C>GCA512687171COL18A1,SLC19A1c.3366C>G (p.Gly1122=)
c.2826C>G (p.Gly942=)
c.867C>G (p.Gly289=)
c.4071C>G (p.Gly1357=)
c.498-5902G>C
c.1294-5902G>C (n.1294-5902G>C)
c.1585-1545G>C (n.1585-1545G>C)
21g.45504514C>TCA512687170COL18A1,SLC19A1c.3366C>T (p.Gly1122=)
c.2826C>T (p.Gly942=)
c.867C>T (p.Gly289=)
c.4071C>T (p.Gly1357=)
c.498-5902G>A
c.1294-5902G>A (n.1294-5902G>A)
c.1585-1545G>A (n.1585-1545G>A)
21g.45504514_45504519delCA2654918341COL18A1,SLC19A1c.3366_3371del (p.Pro1123_Pro1124del)
c.2826_2831del (p.Pro943_Pro944del)
c.867_872del (p.Pro290_Pro291del)
c.4071_4076del (p.Pro1358_Pro1359del)
c.498-5907_498-5902del
c.1294-5907_1294-5902del (n.1294-5907_1294-5902del)
c.1585-1550_1585-1545del (n.1585-1550_1585-1545del)
 gnomAD v4
21g.45504519delCA2392190744COL18A1,SLC19A1c.3371del (p.Pro1124GlnfsTer?)
c.2831del (p.Pro944GlnfsTer?)
c.872del (p.Pro291GlnfsTer?)
c.4076del (p.Pro1359GlnfsTer?)
c.498-5902del
c.1294-5902del (n.1294-5902del)
c.1585-1545del (n.1585-1545del)
 dbSNP gnomAD v3 gnomAD v4
21g.45504518_45504519delCA2654918346COL18A1,SLC19A1c.3370_3371del (p.Pro1124ArgfsTer?)
c.2830_2831del (p.Pro944ArgfsTer?)
c.871_872del (p.Pro291ArgfsTer?)
c.4075_4076del (p.Pro1359ArgfsTer?)
c.498-5903_498-5902del
c.1294-5903_1294-5902del (n.1294-5903_1294-5902del)
c.1585-1546_1585-1545del (n.1585-1546_1585-1545del)
 gnomAD v4
21g.45504517_45504519delCA2818083997COL18A1,SLC19A1c.3369_3371del (p.Pro1124del)
c.2829_2831del (p.Pro944del)
c.870_872del (p.Pro291del)
c.4074_4076del (p.Pro1359del)
c.498-5904_498-5902del
c.1294-5904_1294-5902del (n.1294-5904_1294-5902del)
c.1585-1547_1585-1545del (n.1585-1547_1585-1545del)
21g.45504516_45504519delCA2654918330COL18A1,SLC19A1c.3368_3371del (p.Pro1123GlnfsTer?)
c.2828_2831del (p.Pro943GlnfsTer?)
c.869_872del (p.Pro290GlnfsTer?)
c.4073_4076del (p.Pro1358GlnfsTer?)
c.498-5905_498-5902del
c.1294-5905_1294-5902del (n.1294-5905_1294-5902del)
c.1585-1548_1585-1545del (n.1585-1548_1585-1545del)
 gnomAD v4
21g.45504515_45504519delCA2654918343COL18A1,SLC19A1c.3367_3371del (p.Pro1123ArgfsTer?)
c.2827_2831del (p.Pro943ArgfsTer?)
c.868_872del (p.Pro290ArgfsTer?)
c.4072_4076del (p.Pro1358ArgfsTer?)
c.498-5906_498-5902del
c.1294-5906_1294-5902del (n.1294-5906_1294-5902del)
c.1585-1549_1585-1545del (n.1585-1549_1585-1545del)
 gnomAD v4
21g.45504514_45504520delCA2654918339COL18A1,SLC19A1c.3366_3372del (p.Pro1123AlafsTer?)
c.2826_2832del (p.Pro943AlafsTer?)
c.867_873del (p.Pro290AlafsTer?)
c.4071_4077del (p.Pro1358AlafsTer?)
c.498-5908_498-5902del
c.1294-5908_1294-5902del (n.1294-5908_1294-5902del)
c.1585-1551_1585-1545del (n.1585-1551_1585-1545del)
 gnomAD v4
21g.45504514_45504520delinsCCCCCCACA2392190747COL18A1,SLC19A1c.3366_3372delinsCCCCCCA (p.Gly1122=)
c.2826_2832delinsCCCCCCA (p.Gly942=)
c.867_873delinsCCCCCCA (p.Gly289=)
c.4071_4077delinsCCCCCCA (p.Gly1357=)
c.498-5908_498-5902delinsTGGGGGG
c.1294-5908_1294-5902delinsTGGGGGG (n.1294-5908_1294-5902delinsTGGGGGG)
c.1585-1551_1585-1545delinsTGGGGGG (n.1585-1551_1585-1545delinsTGGGGGG)
21g.45504514_45504522delinsCCCCCCAGGCA2392190746COL18A1,SLC19A1c.3366_3374delinsCCCCCCAGG (p.Gly1122=)
c.2826_2834delinsCCCCCCAGG (p.Gly942=)
c.867_875delinsCCCCCCAGG (p.Gly289=)
c.4071_4079delinsCCCCCCAGG (p.Gly1357=)
c.498-5910_498-5902delinsCCTGGGGGG
c.1294-5910_1294-5902delinsCCTGGGGGG (n.1294-5910_1294-5902delinsCCTGGGGGG)
c.1585-1553_1585-1545delinsCCTGGGGGG (n.1585-1553_1585-1545delinsCCTGGGGGG)
21g.45504519_45504528delCA2577627024COL18A1,SLC19A1c.3371_3380del (p.Pro1124GlnfsTer?)
c.2831_2840del (p.Pro944GlnfsTer?)
c.872_881del (p.Pro291GlnfsTer?)
c.4076_4085del (p.Pro1359GlnfsTer?)
c.498-5911_498-5902del
c.1294-5911_1294-5902del (n.1294-5911_1294-5902del)
c.1585-1554_1585-1545del (n.1585-1554_1585-1545del)
 gnomAD v4
21g.45504518_45504528delCA2654918334COL18A1,SLC19A1c.3370_3380del (p.Pro1124ArgfsTer?)
c.2830_2840del (p.Pro944ArgfsTer?)
c.871_881del (p.Pro291ArgfsTer?)
c.4075_4085del (p.Pro1359ArgfsTer?)
c.498-5912_498-5902del
c.1294-5912_1294-5902del (n.1294-5912_1294-5902del)
c.1585-1555_1585-1545del (n.1585-1555_1585-1545del)
 gnomAD v4
21g.45504514_45504529delinsCCCCCCAGGCCCCCCACA2392190745COL18A1,SLC19A1c.3366_3381delinsCCCCCCAGGCCCCCCA (p.Gly1122=)
c.2826_2841delinsCCCCCCAGGCCCCCCA (p.Gly942=)
c.867_882delinsCCCCCCAGGCCCCCCA (p.Gly289=)
c.4071_4086delinsCCCCCCAGGCCCCCCA (p.Gly1357=)
c.498-5917_498-5902delinsTGGGGGGCCTGGGGGG
c.1294-5917_1294-5902delinsTGGGGGGCCTGGGGGG (n.1294-5917_1294-5902delinsTGGGGGGCCTGGGGGG)
c.1585-1560_1585-1545delinsTGGGGGGCCTGGGGGG (n.1585-1560_1585-1545delinsTGGGGGGCCTGGGGGG)
21g.45504515C>ACA410499277COL18A1,SLC19A1c.3367C>A (p.Pro1123Thr)
c.2827C>A (p.Pro943Thr)
c.868C>A (p.Pro290Thr)
c.4072C>A (p.Pro1358Thr)
c.498-5903G>T
c.1294-5903G>T (n.1294-5903G>T)
c.1585-1546G>T (n.1585-1546G>T)
 dbSNP
21g.45504515C=CA2392190749COL18A1,SLC19A1c.3367C= (p.Pro1123=)
c.2827C= (p.Pro943=)
c.868C= (p.Pro290=)
c.4072C= (p.Pro1358=)
c.498-5903G=
c.1294-5903G= (n.1294-5903G=)
c.1585-1546G= (n.1585-1546G=)
21g.45504515C>GCA410499278COL18A1,SLC19A1c.3367C>G (p.Pro1123Ala)
c.2827C>G (p.Pro943Ala)
c.868C>G (p.Pro290Ala)
c.4072C>G (p.Pro1358Ala)
c.498-5903G>C
c.1294-5903G>C (n.1294-5903G>C)
c.1585-1546G>C (n.1585-1546G>C)
21g.45504515C>TCA410499279COL18A1,SLC19A1c.3367C>T (p.Pro1123Ser)
c.2827C>T (p.Pro943Ser)
c.868C>T (p.Pro290Ser)
c.4072C>T (p.Pro1358Ser)
c.498-5903G>A
c.1294-5903G>A (n.1294-5903G>A)
c.1585-1546G>A (n.1585-1546G>A)
 dbSNP
21g.45504515_45504520delCA638497339COL18A1,SLC19A1c.3367_3372del (p.Pro1123_Pro1124del)
c.2827_2832del (p.Pro943_Pro944del)
c.868_873del (p.Pro290_Pro291del)
c.4072_4077del (p.Pro1358_Pro1359del)
c.498-5908_498-5903del
c.1294-5908_1294-5903del (n.1294-5908_1294-5903del)
c.1585-1551_1585-1546del (n.1585-1551_1585-1546del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45504515_45504520delinsCCCCCACA2392190748COL18A1,SLC19A1c.3367_3372delinsCCCCCA (p.Pro1123=)
c.2827_2832delinsCCCCCA (p.Pro943=)
c.868_873delinsCCCCCA (p.Pro290=)
c.4072_4077delinsCCCCCA (p.Pro1358=)
c.498-5908_498-5903delinsTGGGGG
c.1294-5908_1294-5903delinsTGGGGG (n.1294-5908_1294-5903delinsTGGGGG)
c.1585-1551_1585-1546delinsTGGGGG (n.1585-1551_1585-1546delinsTGGGGG)
21g.45504515_45504521delCA1139532547COL18A1,SLC19A1c.3367_3373del (p.Pro1123AlafsTer?)
c.2827_2833del (p.Pro943AlafsTer?)
c.868_874del (p.Pro290AlafsTer?)
c.4072_4078del (p.Pro1358AlafsTer?)
c.498-5909_498-5903del
c.1294-5909_1294-5903del (n.1294-5909_1294-5903del)
c.1585-1552_1585-1546del (n.1585-1552_1585-1546del)
 gnomAD v4
21g.45504520_45504527delCA638497340COL18A1,SLC19A1c.3372_3379del (p.Gly1125ArgfsTer?)
c.2832_2839del (p.Gly945ArgfsTer?)
c.873_880del (p.Gly292ArgfsTer?)
c.4077_4084del (p.Gly1360ArgfsTer?)
c.498-5910_498-5903del
c.1294-5910_1294-5903del (n.1294-5910_1294-5903del)
c.1585-1553_1585-1546del (n.1585-1553_1585-1546del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45504515_45504529delCA10067495COL18A1,SLC19A1c.3367_3381del (p.Pro1123_Pro1127del)
c.2827_2841del (p.Pro943_Pro947del)
c.868_882del (p.Pro290_Pro294del)
c.4072_4086del (p.Pro1358_Pro1362del)
c.498-5917_498-5903del
c.1294-5917_1294-5903del (n.1294-5917_1294-5903del)
c.1585-1560_1585-1546del (n.1585-1560_1585-1546del)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45504516C>ACA410499282COL18A1,SLC19A1c.3368C>A (p.Pro1123His)
c.2828C>A (p.Pro943His)
c.869C>A (p.Pro290His)
c.4073C>A (p.Pro1358His)
c.498-5904G>T
c.1294-5904G>T (n.1294-5904G>T)
c.1585-1547G>T (n.1585-1547G>T)
21g.45504516C=CA2392190750COL18A1,SLC19A1c.3368C= (p.Pro1123=)
c.2828C= (p.Pro943=)
c.869C= (p.Pro290=)
c.4073C= (p.Pro1358=)
c.498-5904G=
c.1294-5904G= (n.1294-5904G=)
c.1585-1547G= (n.1585-1547G=)
21g.45504516C>GCA410499281COL18A1,SLC19A1c.3368C>G (p.Pro1123Arg)
c.2828C>G (p.Pro943Arg)
c.869C>G (p.Pro290Arg)
c.4073C>G (p.Pro1358Arg)
c.498-5904G>C
c.1294-5904G>C (n.1294-5904G>C)
c.1585-1547G>C (n.1585-1547G>C)
 dbSNP
21g.45504516C>TCA410499280COL18A1,SLC19A1c.3368C>T (p.Pro1123Leu)
c.2828C>T (p.Pro943Leu)
c.869C>T (p.Pro290Leu)
c.4073C>T (p.Pro1358Leu)
c.498-5904G>A
c.1294-5904G>A (n.1294-5904G>A)
c.1585-1547G>A (n.1585-1547G>A)
21g.45504516_45504520delCA10067496COL18A1,SLC19A1c.3368_3372del (p.Pro1123ArgfsTer?)
c.2828_2832del (p.Pro943ArgfsTer?)
c.869_873del (p.Pro290ArgfsTer?)
c.4073_4077del (p.Pro1358ArgfsTer?)
c.498-5908_498-5904del
c.1294-5908_1294-5904del (n.1294-5908_1294-5904del)
c.1585-1551_1585-1547del (n.1585-1551_1585-1547del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504520_45504526delCA2739267721COL18A1,SLC19A1c.3372_3378del (p.Gly1125GlnfsTer?)
c.2832_2838del (p.Gly945GlnfsTer?)
c.873_879del (p.Gly292GlnfsTer?)
c.4077_4083del (p.Gly1360GlnfsTer?)
c.498-5910_498-5904del
c.1294-5910_1294-5904del (n.1294-5910_1294-5904del)
c.1585-1553_1585-1547del (n.1585-1553_1585-1547del)
 ClinVar
21g.45504517C>ACA512687172COL18A1,SLC19A1c.3369C>A (p.Pro1123=)
c.2829C>A (p.Pro943=)
c.870C>A (p.Pro290=)
c.4074C>A (p.Pro1358=)
c.498-5905G>T
c.1294-5905G>T (n.1294-5905G>T)
c.1585-1548G>T (n.1585-1548G>T)
 dbSNP
21g.45504517C=CA2392190752COL18A1,SLC19A1c.3369C= (p.Pro1123=)
c.2829C= (p.Pro943=)
c.870C= (p.Pro290=)
c.4074C= (p.Pro1358=)
c.498-5905G=
c.1294-5905G= (n.1294-5905G=)
c.1585-1548G= (n.1585-1548G=)
21g.45504517C>GCA512687173COL18A1,SLC19A1c.3369C>G (p.Pro1123=)
c.2829C>G (p.Pro943=)
c.870C>G (p.Pro290=)
c.4074C>G (p.Pro1358=)
c.498-5905G>C
c.1294-5905G>C (n.1294-5905G>C)
c.1585-1548G>C (n.1585-1548G>C)
21g.45504517C>TCA512687174COL18A1,SLC19A1c.3369C>T (p.Pro1123=)
c.2829C>T (p.Pro943=)
c.870C>T (p.Pro290=)
c.4074C>T (p.Pro1358=)
c.498-5905G>A
c.1294-5905G>A (n.1294-5905G>A)
c.1585-1548G>A (n.1585-1548G>A)
 dbSNP
21g.45504517_45504520delinsCCCACA2392190751COL18A1,SLC19A1c.3369_3372delinsCCCA (p.Pro1123=)
c.2829_2832delinsCCCA (p.Pro943=)
c.870_873delinsCCCA (p.Pro290=)
c.4074_4077delinsCCCA (p.Pro1358=)
c.498-5908_498-5905delinsTGGG
c.1294-5908_1294-5905delinsTGGG (n.1294-5908_1294-5905delinsTGGG)
c.1585-1551_1585-1548delinsTGGG (n.1585-1551_1585-1548delinsTGGG)
21g.45504517_45504535delinsCCCAGGCCCCCCAGGCCCACA2392190753COL18A1,SLC19A1c.3369_3387delinsCCCAGGCCCCCCAGGCCCA (p.Pro1123=)
c.2829_2847delinsCCCAGGCCCCCCAGGCCCA (p.Pro943=)
c.870_888delinsCCCAGGCCCCCCAGGCCCA (p.Pro290=)
c.4074_4092delinsCCCAGGCCCCCCAGGCCCA (p.Pro1358=)
c.498-5923_498-5905delinsTGGGCCTGGGGGGCCTGGG
c.1294-5923_1294-5905delinsTGGGCCTGGGGGGCCTGGG (n.1294-5923_1294-5905delinsTGGGCCTGGGGGGCCTGGG)
c.1585-1566_1585-1548delinsTGGGCCTGGGGGGCCTGGG (n.1585-1566_1585-1548delinsTGGGCCTGGGGGGCCTGGG)
21g.45504518C>ACA410499283COL18A1,SLC19A1c.3370C>A (p.Pro1124Thr)
c.2830C>A (p.Pro944Thr)
c.871C>A (p.Pro291Thr)
c.4075C>A (p.Pro1359Thr)
c.498-5906G>T
c.1294-5906G>T (n.1294-5906G>T)
c.1585-1549G>T (n.1585-1549G>T)
21g.45504518C>GCA410499284COL18A1,SLC19A1c.3370C>G (p.Pro1124Ala)
c.2830C>G (p.Pro944Ala)
c.871C>G (p.Pro291Ala)
c.4075C>G (p.Pro1359Ala)
c.498-5906G>C
c.1294-5906G>C (n.1294-5906G>C)
c.1585-1549G>C (n.1585-1549G>C)
21g.45504518C>TCA410499285COL18A1,SLC19A1c.3370C>T (p.Pro1124Ser)
c.2830C>T (p.Pro944Ser)
c.871C>T (p.Pro291Ser)
c.4075C>T (p.Pro1359Ser)
c.498-5906G>A
c.1294-5906G>A (n.1294-5906G>A)
c.1585-1549G>A (n.1585-1549G>A)
21g.45504518_45504520delCA10067497COL18A1,SLC19A1c.3370_3372del (p.Pro1124del)
c.2830_2832del (p.Pro944del)
c.871_873del (p.Pro291del)
c.4075_4077del (p.Pro1359del)
c.498-5908_498-5906del
c.1294-5908_1294-5906del (n.1294-5908_1294-5906del)
c.1585-1551_1585-1549del (n.1585-1551_1585-1549del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504518_45504520delinsCCACA2392190754COL18A1,SLC19A1c.3370_3372delinsCCA (p.Pro1124=)
c.2830_2832delinsCCA (p.Pro944=)
c.871_873delinsCCA (p.Pro291=)
c.4075_4077delinsCCA (p.Pro1359=)
c.498-5908_498-5906delinsTGG
c.1294-5908_1294-5906delinsTGG (n.1294-5908_1294-5906delinsTGG)
c.1585-1551_1585-1549delinsTGG (n.1585-1551_1585-1549delinsTGG)
21g.45504518_45504535delinsCCAGGCCCCCCAGGCCCACA2392190755COL18A1,SLC19A1c.3370_3387delinsCCAGGCCCCCCAGGCCCA (p.Pro1124=)
c.2830_2847delinsCCAGGCCCCCCAGGCCCA (p.Pro944=)
c.871_888delinsCCAGGCCCCCCAGGCCCA (p.Pro291=)
c.4075_4092delinsCCAGGCCCCCCAGGCCCA (p.Pro1359=)
c.498-5923_498-5906delinsTGGGCCTGGGGGGCCTGG
c.1294-5923_1294-5906delinsTGGGCCTGGGGGGCCTGG (n.1294-5923_1294-5906delinsTGGGCCTGGGGGGCCTGG)
c.1585-1566_1585-1549delinsTGGGCCTGGGGGGCCTGG (n.1585-1566_1585-1549delinsTGGGCCTGGGGGGCCTGG)
21g.45504519_45504536delCA10067498COL18A1,SLC19A1c.3371_3388del (p.Pro1124_Pro1129del)
c.2831_2848del (p.Pro944_Pro949del)
c.872_889del (p.Pro291_Pro296del)
c.4076_4093del (p.Pro1359_Pro1364del)
c.498-5923_498-5906del
c.1294-5923_1294-5906del (n.1294-5923_1294-5906del)
c.1585-1566_1585-1549del (n.1585-1566_1585-1549del)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45504519C>ACA410499288COL18A1,SLC19A1c.3371C>A (p.Pro1124Gln)
c.2831C>A (p.Pro944Gln)
c.872C>A (p.Pro291Gln)
c.4076C>A (p.Pro1359Gln)
c.498-5907G>T
c.1294-5907G>T (n.1294-5907G>T)
c.1585-1550G>T (n.1585-1550G>T)
21g.45504519C=CA2392190757COL18A1,SLC19A1c.3371C= (p.Pro1124=)
c.2831C= (p.Pro944=)
c.872C= (p.Pro291=)
c.4076C= (p.Pro1359=)
c.498-5907G=
c.1294-5907G= (n.1294-5907G=)
c.1585-1550G= (n.1585-1550G=)
21g.45504519C>GCA410499286COL18A1,SLC19A1c.3371C>G (p.Pro1124Arg)
c.2831C>G (p.Pro944Arg)
c.872C>G (p.Pro291Arg)
c.4076C>G (p.Pro1359Arg)
c.498-5907G>C
c.1294-5907G>C (n.1294-5907G>C)
c.1585-1550G>C (n.1585-1550G>C)
21g.45504519C>TCA410499287COL18A1,SLC19A1c.3371C>T (p.Pro1124Leu)
c.2831C>T (p.Pro944Leu)
c.872C>T (p.Pro291Leu)
c.4076C>T (p.Pro1359Leu)
c.498-5907G>A
c.1294-5907G>A (n.1294-5907G>A)
c.1585-1550G>A (n.1585-1550G>A)
 dbSNP
21g.45504519_45504520delCA10067499COL18A1,SLC19A1c.3371_3372del (p.Pro1124ArgfsTer?)
c.2831_2832del (p.Pro944ArgfsTer?)
c.872_873del (p.Pro291ArgfsTer?)
c.4076_4077del (p.Pro1359ArgfsTer?)
c.498-5908_498-5907del
c.1294-5908_1294-5907del (n.1294-5908_1294-5907del)
c.1585-1551_1585-1550del (n.1585-1551_1585-1550del)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45504519_45504522delinsCAGGCA2392190756COL18A1,SLC19A1c.3371_3374delinsCAGG (p.Pro1124=)
c.2831_2834delinsCAGG (p.Pro944=)
c.872_875delinsCAGG (p.Pro291=)
c.4076_4079delinsCAGG (p.Pro1359=)
c.498-5910_498-5907delinsCCTG
c.1294-5910_1294-5907delinsCCTG (n.1294-5910_1294-5907delinsCCTG)
c.1585-1553_1585-1550delinsCCTG (n.1585-1553_1585-1550delinsCCTG)
21g.45504520_45504536delCA749787712COL18A1,SLC19A1c.3372_3388del (p.Gly1125TrpfsTer?)
c.2832_2848del (p.Gly945TrpfsTer?)
c.873_889del (p.Gly292TrpfsTer?)
c.4077_4093del (p.Gly1360TrpfsTer?)
c.498-5923_498-5907del
c.1294-5923_1294-5907del (n.1294-5923_1294-5907del)
c.1585-1566_1585-1550del (n.1585-1566_1585-1550del)
 dbSNP gnomAD v3 gnomAD v4
21g.45504519_45504537delCA2695230313COL18A1,SLC19A1c.3371_3389del (p.Pro1124LeufsTer?)
c.2831_2849del (p.Pro944LeufsTer?)
c.872_890del (p.Pro291LeufsTer?)
c.4076_4094del (p.Pro1359LeufsTer?)
c.498-5925_498-5907del
c.1294-5925_1294-5907del (n.1294-5925_1294-5907del)
c.1585-1568_1585-1550del (n.1585-1568_1585-1550del)
21g.45504520delCA2654918388COL18A1,SLC19A1c.3372del (p.Gly1125AlafsTer?)
c.2832del (p.Gly945AlafsTer?)
c.873del (p.Gly292AlafsTer?)
c.4077del (p.Gly1360AlafsTer?)
c.498-5908del
c.1294-5908del (n.1294-5908del)
c.1585-1551del (n.1585-1551del)
 gnomAD v4
21g.45504520A=CA2392190761COL18A1,SLC19A1c.3372A= (p.Pro1124=)
c.2832A= (p.Pro944=)
c.873A= (p.Pro291=)
c.4077A= (p.Pro1359=)
c.498-5908T=
c.1294-5908T= (n.1294-5908T=)
c.1585-1551T= (n.1585-1551T=)
21g.45504520A>CCA10067502COL18A1,SLC19A1c.3372A>C (p.Pro1124=)
c.2832A>C (p.Pro944=)
c.873A>C (p.Pro291=)
c.4077A>C (p.Pro1359=)
c.498-5908T>G
c.1294-5908T>G (n.1294-5908T>G)
c.1585-1551T>G (n.1585-1551T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
21g.45504520A>GCA512687175COL18A1,SLC19A1c.3372A>G (p.Pro1124=)
c.2832A>G (p.Pro944=)
c.873A>G (p.Pro291=)
c.4077A>G (p.Pro1359=)
c.498-5908T>C
c.1294-5908T>C (n.1294-5908T>C)
c.1585-1551T>C (n.1585-1551T>C)
 ClinVar dbSNP gnomAD v4
21g.45504520A>TCA10067501COL18A1,SLC19A1c.3372A>T (p.Pro1124=)
c.2832A>T (p.Pro944=)
c.873A>T (p.Pro291=)
c.4077A>T (p.Pro1359=)
c.498-5908T>A
c.1294-5908T>A (n.1294-5908T>A)
c.1585-1551T>A (n.1585-1551T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504520_45504521delinsAGCA2392190760COL18A1,SLC19A1c.3372_3373delinsAG (p.Pro1124=)
c.2832_2833delinsAG (p.Pro944=)
c.873_874delinsAG (p.Pro291=)
c.4077_4078delinsAG (p.Pro1359=)
c.498-5909_498-5908delinsCT
c.1294-5909_1294-5908delinsCT (n.1294-5909_1294-5908delinsCT)
c.1585-1552_1585-1551delinsCT (n.1585-1552_1585-1551delinsCT)
21g.45504520_45504522delCA10067500COL18A1,SLC19A1c.3372_3374del (p.Gly1125del)
c.2832_2834del (p.Gly945del)
c.873_875del (p.Gly292del)
c.4077_4079del (p.Gly1360del)
c.498-5910_498-5908del
c.1294-5910_1294-5908del (n.1294-5910_1294-5908del)
c.1585-1553_1585-1551del (n.1585-1553_1585-1551del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504520_45504523delinsAGGCCA2392190758COL18A1,SLC19A1c.3372_3375delinsAGGC (p.Pro1124=)
c.2832_2835delinsAGGC (p.Pro944=)
c.873_876delinsAGGC (p.Pro291=)
c.4077_4080delinsAGGC (p.Pro1359=)
c.498-5911_498-5908delinsGCCT
c.1294-5911_1294-5908delinsGCCT (n.1294-5911_1294-5908delinsGCCT)
c.1585-1554_1585-1551delinsGCCT (n.1585-1554_1585-1551delinsGCCT)
21g.45504520_45504528delinsAGGCCCCCCCA2392190759COL18A1,SLC19A1c.3372_3380delinsAGGCCCCCC (p.Pro1124=)
c.2832_2840delinsAGGCCCCCC (p.Pro944=)
c.873_881delinsAGGCCCCCC (p.Pro291=)
c.4077_4085delinsAGGCCCCCC (p.Pro1359=)
c.498-5916_498-5908delinsGGGGGGCCT
c.1294-5916_1294-5908delinsGGGGGGCCT (n.1294-5916_1294-5908delinsGGGGGGCCT)
c.1585-1559_1585-1551delinsGGGGGGCCT (n.1585-1559_1585-1551delinsGGGGGGCCT)
21g.45504520_45504529delCA2577627028COL18A1,SLC19A1c.3372_3381del (p.Gly1125AlafsTer?)
c.2832_2841del (p.Gly945AlafsTer?)
c.873_882del (p.Gly292AlafsTer?)
c.4077_4086del (p.Gly1360AlafsTer?)
c.498-5917_498-5908del
c.1294-5917_1294-5908del (n.1294-5917_1294-5908del)
c.1585-1560_1585-1551del (n.1585-1560_1585-1551del)
 gnomAD v4
21g.45504521G>ACA321921217COL18A1,SLC19A1c.3373G>A (p.Gly1125Ser)
c.2833G>A (p.Gly945Ser)
c.874G>A (p.Gly292Ser)
c.4078G>A (p.Gly1360Ser)
c.498-5909C>T
c.1294-5909C>T (n.1294-5909C>T)
c.1585-1552C>T (n.1585-1552C>T)
 ClinVar dbSNP
21g.45504521G>CCA410499289COL18A1,SLC19A1c.3373G>C (p.Gly1125Arg)
c.2833G>C (p.Gly945Arg)
c.874G>C (p.Gly292Arg)
c.4078G>C (p.Gly1360Arg)
c.498-5909C>G
c.1294-5909C>G (n.1294-5909C>G)
c.1585-1552C>G (n.1585-1552C>G)
 gnomAD v4
21g.45504521G=CA2392190762COL18A1,SLC19A1c.3373G= (p.Gly1125=)
c.2833G= (p.Gly945=)
c.874G= (p.Gly292=)
c.4078G= (p.Gly1360=)
c.498-5909C=
c.1294-5909C= (n.1294-5909C=)
c.1585-1552C= (n.1585-1552C=)
21g.45504521G>TCA410499290COL18A1,SLC19A1c.3373G>T (p.Gly1125Cys)
c.2833G>T (p.Gly945Cys)
c.874G>T (p.Gly292Cys)
c.4078G>T (p.Gly1360Cys)
c.498-5909C>A
c.1294-5909C>A (n.1294-5909C>A)
c.1585-1552C>A (n.1585-1552C>A)
 dbSNP gnomAD v2 gnomAD v4
21g.45504521_45504522delCA1139771371COL18A1,SLC19A1c.3373_3374del (p.Gly1125ProfsTer?)
c.2833_2834del (p.Gly945ProfsTer?)
c.874_875del (p.Gly292ProfsTer?)
c.4078_4079del (p.Gly1360ProfsTer?)
c.498-5910_498-5909del
c.1294-5910_1294-5909del (n.1294-5910_1294-5909del)
c.1585-1553_1585-1552del (n.1585-1553_1585-1552del)
 gnomAD v4
21g.45504522dupCA1022823883COL18A1,SLC19A1c.3374dup (p.Gly1128ArgfsTer?)
c.2834dup (p.Gly948ArgfsTer?)
c.875dup (p.Gly295ArgfsTer?)
c.4079dup (p.Gly1363ArgfsTer?)
c.498-5909dup
c.1294-5909dup (n.1294-5909dup)
c.3374dup (p.Arg1127ThrfsTer?)
c.4079dup (p.Arg1362ThrfsTer?)
c.2834dup (p.Arg947ThrfsTer?)
c.1585-1552dup (n.1585-1552dup)
 gnomAD v3 gnomAD v4
21g.45504522delCA10067503COL18A1,SLC19A1c.3374del (p.Gly1125AlafsTer?)
c.2834del (p.Gly945AlafsTer?)
c.875del (p.Gly292AlafsTer?)
c.4079del (p.Gly1360AlafsTer?)
c.498-5909del
c.1294-5909del (n.1294-5909del)
c.1585-1552del (n.1585-1552del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504521_45504523delCA1022823886COL18A1,SLC19A1c.3373_3375del (p.Gly1125del)
c.2833_2835del (p.Gly945del)
c.874_876del (p.Gly292del)
c.4078_4080del (p.Gly1360del)
c.498-5911_498-5909del
c.1294-5911_1294-5909del (n.1294-5911_1294-5909del)
c.1585-1554_1585-1552del (n.1585-1554_1585-1552del)
 dbSNP gnomAD v3 gnomAD v4
21g.45504521_45504524delCA2654918411COL18A1,SLC19A1c.3373_3376del (p.Gly1125ProfsTer?)
c.2833_2836del (p.Gly945ProfsTer?)
c.874_877del (p.Gly292ProfsTer?)
c.4078_4081del (p.Gly1360ProfsTer?)
c.498-5912_498-5909del
c.1294-5912_1294-5909del (n.1294-5912_1294-5909del)
c.3373_3376del (p.Gly1125HisfsTer?)
c.4078_4081del (p.Gly1360HisfsTer?)
c.2833_2836del (p.Gly945HisfsTer?)
c.1585-1555_1585-1552del (n.1585-1555_1585-1552del)
 gnomAD v4
21g.45504521_45504525delCA2654918416COL18A1,SLC19A1c.3373_3377del (p.Gly1125ProfsTer?)
c.2833_2837del (p.Gly945ProfsTer?)
c.874_878del (p.Gly292ProfsTer?)
c.4078_4082del (p.Gly1360ProfsTer?)
c.498-5913_498-5909del
c.1294-5913_1294-5909del (n.1294-5913_1294-5909del)
c.3373_3377del (p.Gly1125ThrfsTer?)
c.4078_4082del (p.Gly1360ThrfsTer?)
c.2833_2837del (p.Gly945ThrfsTer?)
c.1585-1556_1585-1552del (n.1585-1556_1585-1552del)
 gnomAD v4
21g.45504521_45504526delCA2818084005COL18A1,SLC19A1c.3373_3378del (p.Gly1125_Pro1126del)
c.2833_2838del (p.Gly945_Pro946del)
c.874_879del (p.Gly292_Pro293del)
c.4078_4083del (p.Gly1360_Pro1361del)
c.498-5914_498-5909del
c.1294-5914_1294-5909del (n.1294-5914_1294-5909del)
c.1585-1557_1585-1552del (n.1585-1557_1585-1552del)
21g.45504521_45504527delCA2654918405COL18A1,SLC19A1c.3373_3379del (p.Gly1125GlnfsTer?)
c.2833_2839del (p.Gly945GlnfsTer?)
c.874_880del (p.Gly292GlnfsTer?)
c.4078_4084del (p.Gly1360GlnfsTer?)
c.498-5915_498-5909del
c.1294-5915_1294-5909del (n.1294-5915_1294-5909del)
c.1585-1558_1585-1552del (n.1585-1558_1585-1552del)
 gnomAD v4
21g.45504521_45504528delCA645509361COL18A1,SLC19A1c.3373_3380del (p.Gly1125ArgfsTer?)
c.2833_2840del (p.Gly945ArgfsTer?)
c.874_881del (p.Gly292ArgfsTer?)
c.4078_4085del (p.Gly1360ArgfsTer?)
c.498-5916_498-5909del
c.1294-5916_1294-5909del (n.1294-5916_1294-5909del)
c.1585-1559_1585-1552del (n.1585-1559_1585-1552del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.45504521_45504528delinsGGCCCCCCCA2392190763COL18A1,SLC19A1c.3373_3380delinsGGCCCCCC (p.Gly1125=)
c.2833_2840delinsGGCCCCCC (p.Gly945=)
c.874_881delinsGGCCCCCC (p.Gly292=)
c.4078_4085delinsGGCCCCCC (p.Gly1360=)
c.498-5916_498-5909delinsGGGGGGCC
c.1294-5916_1294-5909delinsGGGGGGCC (n.1294-5916_1294-5909delinsGGGGGGCC)
c.1585-1559_1585-1552delinsGGGGGGCC (n.1585-1559_1585-1552delinsGGGGGGCC)
21g.45504521_45504534delinsGGCCCCCCAGGCCCCA2580615220COL18A1,SLC19A1c.3373_3386delinsGGCCCCCCAGGCCC (p.Gly1125=)
c.2833_2846delinsGGCCCCCCAGGCCC (p.Gly945=)
c.874_887delinsGGCCCCCCAGGCCC (p.Gly292=)
c.4078_4091delinsGGCCCCCCAGGCCC (p.Gly1360=)
c.498-5922_498-5909delinsGGGCCTGGGGGGCC
c.1294-5922_1294-5909delinsGGGCCTGGGGGGCC (n.1294-5922_1294-5909delinsGGGCCTGGGGGGCC)
c.1585-1565_1585-1552delinsGGGCCTGGGGGGCC (n.1585-1565_1585-1552delinsGGGCCTGGGGGGCC)
21g.45504524_45504541delCA2573054949COL18A1,SLC19A1c.3376_3393del (p.Pro1126_Gly1131del)
c.2836_2853del (p.Pro946_Gly951del)
c.877_894del (p.Pro293_Gly298del)
c.4081_4098del (p.Pro1361_Gly1366del)
c.498-5926_498-5909del
c.1294-5926_1294-5909del (n.1294-5926_1294-5909del)
c.1585-1569_1585-1552del (n.1585-1569_1585-1552del)
 ClinVar dbSNP gnomAD v4
21g.45504522G>ACA410499291COL18A1,SLC19A1c.3374G>A (p.Gly1125Asp)
c.2834G>A (p.Gly945Asp)
c.875G>A (p.Gly292Asp)
c.4079G>A (p.Gly1360Asp)
c.498-5910C>T
c.1294-5910C>T (n.1294-5910C>T)
c.1585-1553C>T (n.1585-1553C>T)
21g.45504522G>CCA410499292COL18A1,SLC19A1c.3374G>C (p.Gly1125Ala)
c.2834G>C (p.Gly945Ala)
c.875G>C (p.Gly292Ala)
c.4079G>C (p.Gly1360Ala)
c.498-5910C>G
c.1294-5910C>G (n.1294-5910C>G)
c.1585-1553C>G (n.1585-1553C>G)
21g.45504522G>TCA410499293COL18A1,SLC19A1c.3374G>T (p.Gly1125Val)
c.2834G>T (p.Gly945Val)
c.875G>T (p.Gly292Val)
c.4079G>T (p.Gly1360Val)
c.498-5910C>A
c.1294-5910C>A (n.1294-5910C>A)
c.1585-1553C>A (n.1585-1553C>A)
21g.45504522_45504523delCA2654918428COL18A1,SLC19A1c.3374_3375del (p.Gly1125AlafsTer?)
c.2834_2835del (p.Gly945AlafsTer?)
c.875_876del (p.Gly292AlafsTer?)
c.4079_4080del (p.Gly1360AlafsTer?)
c.498-5911_498-5910del
c.1294-5911_1294-5910del (n.1294-5911_1294-5910del)
c.1585-1554_1585-1553del (n.1585-1554_1585-1553del)
 gnomAD v4
21g.45504522_45504528delCA638497341COL18A1,SLC19A1c.3374_3380del (p.Gly1125GlufsTer?)
c.2834_2840del (p.Gly945GlufsTer?)
c.875_881del (p.Gly292GlufsTer?)
c.4079_4085del (p.Gly1360GlufsTer?)
c.498-5916_498-5910del
c.1294-5916_1294-5910del (n.1294-5916_1294-5910del)
c.1585-1559_1585-1553del (n.1585-1559_1585-1553del)
 dbSNP gnomAD v2 gnomAD v4
21g.45504523_45504530delCA2737718769COL18A1,SLC19A1c.3375_3382del (p.Pro1127ThrfsTer?)
c.2835_2842del (p.Pro947ThrfsTer?)
c.876_883del (p.Pro294ThrfsTer?)
c.4080_4087del (p.Pro1362ThrfsTer?)
c.498-5917_498-5910del
c.1294-5917_1294-5910del (n.1294-5917_1294-5910del)
c.1585-1560_1585-1553del (n.1585-1560_1585-1553del)
 dbSNP
21g.45504522_45504532delinsACA2580098870COL18A1,SLC19A1c.3374_3384delinsA (p.Gly1125AspfsTer?)
c.2834_2844delinsA (p.Gly945AspfsTer?)
c.875_885delinsA (p.Gly292AspfsTer?)
c.4079_4089delinsA (p.Gly1360AspfsTer?)
c.498-5920_498-5910delinsT
c.1294-5920_1294-5910delinsT (n.1294-5920_1294-5910delinsT)
c.1585-1563_1585-1553delinsT (n.1585-1563_1585-1553delinsT)
 ClinVar
21g.45504523C>ACA512687176COL18A1,SLC19A1c.3375C>A (p.Gly1125=)
c.2835C>A (p.Gly945=)
c.876C>A (p.Gly292=)
c.4080C>A (p.Gly1360=)
c.498-5911G>T
c.1294-5911G>T (n.1294-5911G>T)
c.1585-1554G>T (n.1585-1554G>T)
21g.45504523C=CA2392190766COL18A1,SLC19A1c.3375C= (p.Gly1125=)
c.2835C= (p.Gly945=)
c.876C= (p.Gly292=)
c.4080C= (p.Gly1360=)
c.498-5911G=
c.1294-5911G= (n.1294-5911G=)
c.1585-1554G= (n.1585-1554G=)
21g.45504523C>GCA512687178COL18A1,SLC19A1c.3375C>G (p.Gly1125=)
c.2835C>G (p.Gly945=)
c.876C>G (p.Gly292=)
c.4080C>G (p.Gly1360=)
c.498-5911G>C
c.1294-5911G>C (n.1294-5911G>C)
c.1585-1554G>C (n.1585-1554G>C)
 gnomAD v4
21g.45504523C>TCA512687177COL18A1,SLC19A1c.3375C>T (p.Gly1125=)
c.2835C>T (p.Gly945=)
c.876C>T (p.Gly292=)
c.4080C>T (p.Gly1360=)
c.498-5911G>A
c.1294-5911G>A (n.1294-5911G>A)
c.1585-1554G>A (n.1585-1554G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.45504523_45504528delCA2654918440COL18A1,SLC19A1c.3375_3380del (p.Pro1126_Pro1127del)
c.2835_2840del (p.Pro946_Pro947del)
c.876_881del (p.Pro293_Pro294del)
c.4080_4085del (p.Pro1361_Pro1362del)
c.498-5916_498-5911del
c.1294-5916_1294-5911del (n.1294-5916_1294-5911del)
c.1585-1559_1585-1554del (n.1585-1559_1585-1554del)
 gnomAD v4
21g.45504524_45504528delCA2654918438COL18A1,SLC19A1c.3376_3380del (p.Pro1126ArgfsTer?)
c.2836_2840del (p.Pro946ArgfsTer?)
c.877_881del (p.Pro293ArgfsTer?)
c.4081_4085del (p.Pro1361ArgfsTer?)
c.498-5915_498-5911del
c.1294-5915_1294-5911del (n.1294-5915_1294-5911del)
c.1585-1558_1585-1554del (n.1585-1558_1585-1554del)
 gnomAD v4
21g.45504523_45504529delCA2654918442COL18A1,SLC19A1c.3375_3381del (p.Pro1126AlafsTer?)
c.2835_2841del (p.Pro946AlafsTer?)
c.876_882del (p.Pro293AlafsTer?)
c.4080_4086del (p.Pro1361AlafsTer?)
c.498-5917_498-5911del
c.1294-5917_1294-5911del (n.1294-5917_1294-5911del)
c.1585-1560_1585-1554del (n.1585-1560_1585-1554del)
 gnomAD v4
21g.45504523_45504529delinsCCCCCCACA2392190764COL18A1,SLC19A1c.3375_3381delinsCCCCCCA (p.Gly1125=)
c.2835_2841delinsCCCCCCA (p.Gly945=)
c.876_882delinsCCCCCCA (p.Gly292=)
c.4080_4086delinsCCCCCCA (p.Gly1360=)
c.498-5917_498-5911delinsTGGGGGG
c.1294-5917_1294-5911delinsTGGGGGG (n.1294-5917_1294-5911delinsTGGGGGG)
c.1585-1560_1585-1554delinsTGGGGGG (n.1585-1560_1585-1554delinsTGGGGGG)
21g.45504523_45504531delinsCCCCCCAGGCA2392190765COL18A1,SLC19A1c.3375_3383delinsCCCCCCAGG (p.Gly1125=)
c.2835_2843delinsCCCCCCAGG (p.Gly945=)
c.876_884delinsCCCCCCAGG (p.Gly292=)
c.4080_4088delinsCCCCCCAGG (p.Gly1360=)
c.498-5919_498-5911delinsCCTGGGGGG
c.1294-5919_1294-5911delinsCCTGGGGGG (n.1294-5919_1294-5911delinsCCTGGGGGG)
c.1585-1562_1585-1554delinsCCTGGGGGG (n.1585-1562_1585-1554delinsCCTGGGGGG)
21g.45504525_45504534delCA2737718785COL18A1,SLC19A1c.3377_3386del (p.Pro1126HisfsTer?)
c.2837_2846del (p.Pro946HisfsTer?)
c.878_887del (p.Pro293HisfsTer?)
c.4082_4091del (p.Pro1361HisfsTer?)
c.498-5920_498-5911del
c.1294-5920_1294-5911del (n.1294-5920_1294-5911del)
c.1585-1563_1585-1554del (n.1585-1563_1585-1554del)
 dbSNP
21g.45504524C>ACA410499295COL18A1,SLC19A1c.3376C>A (p.Pro1126Thr)
c.2836C>A (p.Pro946Thr)
c.877C>A (p.Pro293Thr)
c.4081C>A (p.Pro1361Thr)
c.498-5912G>T
c.1294-5912G>T (n.1294-5912G>T)
c.1585-1555G>T (n.1585-1555G>T)
21g.45504524C=CA2392190767COL18A1,SLC19A1c.3376C= (p.Pro1126=)
c.2836C= (p.Pro946=)
c.877C= (p.Pro293=)
c.4081C= (p.Pro1361=)
c.498-5912G=
c.1294-5912G= (n.1294-5912G=)
c.1585-1555G= (n.1585-1555G=)
21g.45504524C>GCA410499296COL18A1,SLC19A1c.3376C>G (p.Pro1126Ala)
c.2836C>G (p.Pro946Ala)
c.877C>G (p.Pro293Ala)
c.4081C>G (p.Pro1361Ala)
c.498-5912G>C
c.1294-5912G>C (n.1294-5912G>C)
c.1585-1555G>C (n.1585-1555G>C)
21g.45504524C>TCA410499294COL18A1,SLC19A1c.3376C>T (p.Pro1126Ser)
c.2836C>T (p.Pro946Ser)
c.877C>T (p.Pro293Ser)
c.4081C>T (p.Pro1361Ser)
c.498-5912G>A
c.1294-5912G>A (n.1294-5912G>A)
c.1585-1555G>A (n.1585-1555G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45504524_45504529delCA10067504COL18A1,SLC19A1c.3376_3381del (p.Pro1126_Pro1127del)
c.2836_2841del (p.Pro946_Pro947del)
c.877_882del (p.Pro293_Pro294del)
c.4081_4086del (p.Pro1361_Pro1362del)
c.498-5917_498-5912del
c.1294-5917_1294-5912del (n.1294-5917_1294-5912del)
c.1585-1560_1585-1555del (n.1585-1560_1585-1555del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504527_45504534delCA1022823893COL18A1,SLC19A1c.3379_3386del (p.Pro1127ThrfsTer?)
c.2839_2846del (p.Pro947ThrfsTer?)
c.880_887del (p.Pro294ThrfsTer?)
c.4084_4091del (p.Pro1362ThrfsTer?)
c.498-5919_498-5912del
c.1294-5919_1294-5912del (n.1294-5919_1294-5912del)
c.1585-1562_1585-1555del (n.1585-1562_1585-1555del)
 dbSNP gnomAD v3 gnomAD v4
21g.45504525C>ACA410499298COL18A1,SLC19A1c.3377C>A (p.Pro1126His)
c.2837C>A (p.Pro946His)
c.878C>A (p.Pro293His)
c.4082C>A (p.Pro1361His)
c.498-5913G>T
c.1294-5913G>T (n.1294-5913G>T)
c.3377C>A (p.Pro1126Gln)
c.4082C>A (p.Pro1361Gln)
c.2837C>A (p.Pro946Gln)
c.1585-1556G>T (n.1585-1556G>T)
21g.45504525C=CA2392190768COL18A1,SLC19A1c.3377C= (p.Pro1126=)
c.2837C= (p.Pro946=)
c.878C= (p.Pro293=)
c.4082C= (p.Pro1361=)
c.498-5913G=
c.1294-5913G= (n.1294-5913G=)
c.1585-1556G= (n.1585-1556G=)
21g.45504525C>GCA410499297COL18A1,SLC19A1c.3377C>G (p.Pro1126Arg)
c.2837C>G (p.Pro946Arg)
c.878C>G (p.Pro293Arg)
c.4082C>G (p.Pro1361Arg)
c.498-5913G>C
c.1294-5913G>C (n.1294-5913G>C)
c.1585-1556G>C (n.1585-1556G>C)
21g.45504525C>TCA10067505COL18A1,SLC19A1c.3377C>T (p.Pro1126Leu)
c.2837C>T (p.Pro946Leu)
c.878C>T (p.Pro293Leu)
c.4082C>T (p.Pro1361Leu)
c.498-5913G>A
c.1294-5913G>A (n.1294-5913G>A)
c.1585-1556G>A (n.1585-1556G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45504525_45504530delCA1139769947COL18A1,SLC19A1c.3377_3382del (p.Pro1126_Gly1128delinsArg)
c.2837_2842del (p.Pro946_Gly948delinsArg)
c.878_883del (p.Pro293_Gly295delinsArg)
c.4082_4087del (p.Pro1361_Gly1363delinsArg)
c.498-5918_498-5913del
c.1294-5918_1294-5913del (n.1294-5918_1294-5913del)
c.1585-1561_1585-1556del (n.1585-1561_1585-1556del)
21g.45504526C>ACA512687179COL18A1,SLC19A1c.3378C>A (p.Pro1126=)
c.2838C>A (p.Pro946=)
c.879C>A (p.Pro293=)
c.4083C>A (p.Pro1361=)
c.498-5914G>T
c.1294-5914G>T (n.1294-5914G>T)
c.1585-1557G>T (n.1585-1557G>T)
 dbSNP gnomAD v3 gnomAD v4
21g.45504526C=CA2392190770COL18A1,SLC19A1c.3378C= (p.Pro1126=)
c.2838C= (p.Pro946=)
c.879C= (p.Pro293=)
c.4083C= (p.Pro1361=)
c.498-5914G=
c.1294-5914G= (n.1294-5914G=)
c.1585-1557G= (n.1585-1557G=)
21g.45504526C>GCA512687180COL18A1,SLC19A1c.3378C>G (p.Pro1126=)
c.2838C>G (p.Pro946=)
c.879C>G (p.Pro293=)
c.4083C>G (p.Pro1361=)
c.498-5914G>C
c.1294-5914G>C (n.1294-5914G>C)
c.1585-1557G>C (n.1585-1557G>C)
21g.45504526C>TCA10067506COL18A1,SLC19A1c.3378C>T (p.Pro1126=)
c.2838C>T (p.Pro946=)
c.879C>T (p.Pro293=)
c.4083C>T (p.Pro1361=)
c.498-5914G>A
c.1294-5914G>A (n.1294-5914G>A)
c.1585-1557G>A (n.1585-1557G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504526_45504535delinsCCCAGGCCCACA2392190769COL18A1,SLC19A1c.3378_3387delinsCCCAGGCCCA (p.Pro1126=)
c.2838_2847delinsCCCAGGCCCA (p.Pro946=)
c.879_888delinsCCCAGGCCCA (p.Pro293=)
c.4083_4092delinsCCCAGGCCCA (p.Pro1361=)
c.498-5923_498-5914delinsTGGGCCTGGG
c.1294-5923_1294-5914delinsTGGGCCTGGG (n.1294-5923_1294-5914delinsTGGGCCTGGG)
c.1585-1566_1585-1557delinsTGGGCCTGGG (n.1585-1566_1585-1557delinsTGGGCCTGGG)
21g.45504530_45504535delCA1139771582COL18A1,SLC19A1c.3382_3387del (p.Gly1128_Pro1129del)
c.2842_2847del (p.Gly948_Pro949del)
c.883_888del (p.Gly295_Pro296del)
c.4087_4092del (p.Gly1363_Pro1364del)
c.498-5919_498-5914del
c.1294-5919_1294-5914del (n.1294-5919_1294-5914del)
c.1585-1562_1585-1557del (n.1585-1562_1585-1557del)
21g.45504527C>ACA410499299COL18A1,SLC19A1c.3379C>A (p.Pro1127Thr)
c.2839C>A (p.Pro947Thr)
c.880C>A (p.Pro294Thr)
c.4084C>A (p.Pro1362Thr)
c.498-5915G>T
c.1294-5915G>T (n.1294-5915G>T)
c.1585-1558G>T (n.1585-1558G>T)
21g.45504527C=CA2392190771COL18A1,SLC19A1c.3379C= (p.Pro1127=)
c.2839C= (p.Pro947=)
c.880C= (p.Pro294=)
c.4084C= (p.Pro1362=)
c.498-5915G=
c.1294-5915G= (n.1294-5915G=)
c.1585-1558G= (n.1585-1558G=)
21g.45504527C>GCA410499300COL18A1,SLC19A1c.3379C>G (p.Pro1127Ala)
c.2839C>G (p.Pro947Ala)
c.880C>G (p.Pro294Ala)
c.4084C>G (p.Pro1362Ala)
c.498-5915G>C
c.1294-5915G>C (n.1294-5915G>C)
c.1585-1558G>C (n.1585-1558G>C)
21g.45504527C>TCA410499301COL18A1,SLC19A1c.3379C>T (p.Pro1127Ser)
c.2839C>T (p.Pro947Ser)
c.880C>T (p.Pro294Ser)
c.4084C>T (p.Pro1362Ser)
c.498-5915G>A
c.1294-5915G>A (n.1294-5915G>A)
c.1585-1558G>A (n.1585-1558G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.45504528_45504536delCA410499302COL18A1,SLC19A1c.3380_3388del (p.Pro1127_Pro1129del)
c.2840_2848del (p.Pro947_Pro949del)
c.881_889del (p.Pro294_Pro296del)
c.4085_4093del (p.Pro1362_Pro1364del)
c.498-5923_498-5915del
c.1294-5923_1294-5915del (n.1294-5923_1294-5915del)
c.1585-1566_1585-1558del (n.1585-1566_1585-1558del)
 ClinVar dbSNP
21g.45504528C>ACA410499303COL18A1,SLC19A1c.3380C>A (p.Pro1127Gln)
c.2840C>A (p.Pro947Gln)
c.881C>A (p.Pro294Gln)
c.4085C>A (p.Pro1362Gln)
c.498-5916G>T
c.1294-5916G>T (n.1294-5916G>T)
c.1585-1559G>T (n.1585-1559G>T)
21g.45504528C>GCA410499304COL18A1,SLC19A1c.3380C>G (p.Pro1127Arg)
c.2840C>G (p.Pro947Arg)
c.881C>G (p.Pro294Arg)
c.4085C>G (p.Pro1362Arg)
c.498-5916G>C
c.1294-5916G>C (n.1294-5916G>C)
c.1585-1559G>C (n.1585-1559G>C)
 gnomAD v3 gnomAD v4
21g.45504528C>TCA410499305COL18A1,SLC19A1c.3380C>T (p.Pro1127Leu)
c.2840C>T (p.Pro947Leu)
c.881C>T (p.Pro294Leu)
c.4085C>T (p.Pro1362Leu)
c.498-5916G>A
c.1294-5916G>A (n.1294-5916G>A)
c.1585-1559G>A (n.1585-1559G>A)
 gnomAD v4
21g.45504529A=CA2392190772COL18A1,SLC19A1c.3381A= (p.Pro1127=)
c.2841A= (p.Pro947=)
c.882A= (p.Pro294=)
c.4086A= (p.Pro1362=)
c.498-5917T=
c.1294-5917T= (n.1294-5917T=)
c.1585-1560T= (n.1585-1560T=)
21g.45504529A>CCA10650647COL18A1,SLC19A1c.3381A>C (p.Pro1127=)
c.2841A>C (p.Pro947=)
c.882A>C (p.Pro294=)
c.4086A>C (p.Pro1362=)
c.498-5917T>G
c.1294-5917T>G (n.1294-5917T>G)
c.1585-1560T>G (n.1585-1560T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.45504529A>GCA512687181COL18A1,SLC19A1c.3381A>G (p.Pro1127=)
c.2841A>G (p.Pro947=)
c.882A>G (p.Pro294=)
c.4086A>G (p.Pro1362=)
c.498-5917T>C
c.1294-5917T>C (n.1294-5917T>C)
c.1585-1560T>C (n.1585-1560T>C)
21g.45504529A>TCA10067507COL18A1,SLC19A1c.3381A>T (p.Pro1127=)
c.2841A>T (p.Pro947=)
c.882A>T (p.Pro294=)
c.4086A>T (p.Pro1362=)
c.498-5917T>A
c.1294-5917T>A (n.1294-5917T>A)
c.1585-1560T>A (n.1585-1560T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504529_45504531delCA2740094752COL18A1,SLC19A1c.3381_3383del (p.Gly1128del)
c.2841_2843del (p.Gly948del)
c.882_884del (p.Gly295del)
c.4086_4088del (p.Gly1363del)
c.498-5919_498-5917del
c.1294-5919_1294-5917del (n.1294-5919_1294-5917del)
c.1585-1562_1585-1560del (n.1585-1562_1585-1560del)
 ClinVar
21g.45504530G>ACA410499308COL18A1,SLC19A1c.3382G>A (p.Gly1128Ser)
c.2842G>A (p.Gly948Ser)
c.883G>A (p.Gly295Ser)
c.4087G>A (p.Gly1363Ser)
c.498-5918C>T
c.1294-5918C>T (n.1294-5918C>T)
c.1585-1561C>T (n.1585-1561C>T)
 dbSNP
21g.45504530G>CCA410499306COL18A1,SLC19A1c.3382G>C (p.Gly1128Arg)
c.2842G>C (p.Gly948Arg)
c.883G>C (p.Gly295Arg)
c.4087G>C (p.Gly1363Arg)
c.498-5918C>G
c.1294-5918C>G (n.1294-5918C>G)
c.1585-1561C>G (n.1585-1561C>G)
 gnomAD v4
21g.45504530G=CA2392190774COL18A1,SLC19A1c.3382G= (p.Gly1128=)
c.2842G= (p.Gly948=)
c.883G= (p.Gly295=)
c.4087G= (p.Gly1363=)
c.498-5918C=
c.1294-5918C= (n.1294-5918C=)
c.1585-1561C= (n.1585-1561C=)
21g.45504530G>TCA410499307COL18A1,SLC19A1c.3382G>T (p.Gly1128Cys)
c.2842G>T (p.Gly948Cys)
c.883G>T (p.Gly295Cys)
c.4087G>T (p.Gly1363Cys)
c.498-5918C>A
c.1294-5918C>A (n.1294-5918C>A)
c.1585-1561C>A (n.1585-1561C>A)
21g.45504530_45504531delCA2654918474COL18A1,SLC19A1c.3382_3383del (p.Gly1128ProfsTer?)
c.2842_2843del (p.Gly948ProfsTer?)
c.883_884del (p.Gly295ProfsTer?)
c.4087_4088del (p.Gly1363ProfsTer?)
c.498-5919_498-5918del
c.1294-5919_1294-5918del (n.1294-5919_1294-5918del)
c.1585-1562_1585-1561del (n.1585-1562_1585-1561del)
 gnomAD v4
21g.45504530_45504532delCA2654918475COL18A1,SLC19A1c.3382_3384del (p.Gly1128del)
c.2842_2844del (p.Gly948del)
c.883_885del (p.Gly295del)
c.4087_4089del (p.Gly1363del)
c.498-5920_498-5918del
c.1294-5920_1294-5918del (n.1294-5920_1294-5918del)
c.1585-1563_1585-1561del (n.1585-1563_1585-1561del)
 gnomAD v4
21g.45504530_45504533delCA2654918476COL18A1,SLC19A1c.3382_3385del (p.Gly1128HisfsTer?)
c.2842_2845del (p.Gly948HisfsTer?)
c.883_886del (p.Gly295HisfsTer?)
c.4087_4090del (p.Gly1363HisfsTer?)
c.498-5921_498-5918del
c.1294-5921_1294-5918del (n.1294-5921_1294-5918del)
c.1585-1564_1585-1561del (n.1585-1564_1585-1561del)
 gnomAD v4
21g.45504530_45504533delinsGGCCCA2392190773COL18A1,SLC19A1c.3382_3385delinsGGCC (p.Gly1128=)
c.2842_2845delinsGGCC (p.Gly948=)
c.883_886delinsGGCC (p.Gly295=)
c.4087_4090delinsGGCC (p.Gly1363=)
c.498-5921_498-5918delinsGGCC
c.1294-5921_1294-5918delinsGGCC (n.1294-5921_1294-5918delinsGGCC)
c.1585-1564_1585-1561delinsGGCC (n.1585-1564_1585-1561delinsGGCC)
21g.45504531G>ACA410499309COL18A1,SLC19A1c.3383G>A (p.Gly1128Asp)
c.2843G>A (p.Gly948Asp)
c.884G>A (p.Gly295Asp)
c.4088G>A (p.Gly1363Asp)
c.498-5919C>T
c.1294-5919C>T (n.1294-5919C>T)
c.1585-1562C>T (n.1585-1562C>T)
21g.45504531G>CCA410499310COL18A1,SLC19A1c.3383G>C (p.Gly1128Ala)
c.2843G>C (p.Gly948Ala)
c.884G>C (p.Gly295Ala)
c.4088G>C (p.Gly1363Ala)
c.498-5919C>G
c.1294-5919C>G (n.1294-5919C>G)
c.1585-1562C>G (n.1585-1562C>G)
 dbSNP
21g.45504531G=CA2392190775COL18A1,SLC19A1c.3383G= (p.Gly1128=)
c.2843G= (p.Gly948=)
c.884G= (p.Gly295=)
c.4088G= (p.Gly1363=)
c.498-5919C=
c.1294-5919C= (n.1294-5919C=)
c.1585-1562C= (n.1585-1562C=)
21g.45504531G>TCA410499311COL18A1,SLC19A1c.3383G>T (p.Gly1128Val)
c.2843G>T (p.Gly948Val)
c.884G>T (p.Gly295Val)
c.4088G>T (p.Gly1363Val)
c.498-5919C>A
c.1294-5919C>A (n.1294-5919C>A)
c.1585-1562C>A (n.1585-1562C>A)
21g.45504531_45504532delCA2654918477COL18A1,SLC19A1c.3383_3384del (p.Gly1128AlafsTer?)
c.2843_2844del (p.Gly948AlafsTer?)
c.884_885del (p.Gly295AlafsTer?)
c.4088_4089del (p.Gly1363AlafsTer?)
c.498-5920_498-5919del
c.1294-5920_1294-5919del (n.1294-5920_1294-5919del)
c.1585-1563_1585-1562del (n.1585-1563_1585-1562del)
 gnomAD v4
21g.45504531_45504533delCA638497342COL18A1,SLC19A1c.3383_3385del (p.Gly1128_Pro1129delinsAla)
c.2843_2845del (p.Gly948_Pro949delinsAla)
c.884_886del (p.Gly295_Pro296delinsAla)
c.4088_4090del (p.Gly1363_Pro1364delinsAla)
c.498-5921_498-5919del
c.1294-5921_1294-5919del (n.1294-5921_1294-5919del)
c.1585-1564_1585-1562del (n.1585-1564_1585-1562del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45504532C>ACA512687184COL18A1,SLC19A1c.3384C>A (p.Gly1128=)
c.2844C>A (p.Gly948=)
c.885C>A (p.Gly295=)
c.4089C>A (p.Gly1363=)
c.498-5920G>T
c.1294-5920G>T (n.1294-5920G>T)
c.1585-1563G>T (n.1585-1563G>T)
 ClinVar
21g.45504532C=CA2392190776COL18A1,SLC19A1c.3384C= (p.Gly1128=)
c.2844C= (p.Gly948=)
c.885C= (p.Gly295=)
c.4089C= (p.Gly1363=)
c.498-5920G=
c.1294-5920G= (n.1294-5920G=)
c.1585-1563G= (n.1585-1563G=)
21g.45504532C>GCA512687183COL18A1,SLC19A1c.3384C>G (p.Gly1128=)
c.2844C>G (p.Gly948=)
c.885C>G (p.Gly295=)
c.4089C>G (p.Gly1363=)
c.498-5920G>C
c.1294-5920G>C (n.1294-5920G>C)
c.1585-1563G>C (n.1585-1563G>C)
21g.45504532C>TCA512687182COL18A1,SLC19A1c.3384C>T (p.Gly1128=)
c.2844C>T (p.Gly948=)
c.885C>T (p.Gly295=)
c.4089C>T (p.Gly1363=)
c.498-5920G>A
c.1294-5920G>A (n.1294-5920G>A)
c.1585-1563G>A (n.1585-1563G>A)
 dbSNP gnomAD v3 gnomAD v4
21g.45504533C>ACA410499312COL18A1,SLC19A1c.3385C>A (p.Pro1129Thr)
c.2845C>A (p.Pro949Thr)
c.886C>A (p.Pro296Thr)
c.4090C>A (p.Pro1364Thr)
c.498-5921G>T
c.1294-5921G>T (n.1294-5921G>T)
c.1585-1564G>T (n.1585-1564G>T)
21g.45504533C=CA2392190777COL18A1,SLC19A1c.3385C= (p.Pro1129=)
c.2845C= (p.Pro949=)
c.886C= (p.Pro296=)
c.4090C= (p.Pro1364=)
c.498-5921G=
c.1294-5921G= (n.1294-5921G=)
c.1585-1564G= (n.1585-1564G=)
21g.45504533C>GCA410499313COL18A1,SLC19A1c.3385C>G (p.Pro1129Ala)
c.2845C>G (p.Pro949Ala)
c.886C>G (p.Pro296Ala)
c.4090C>G (p.Pro1364Ala)
c.498-5921G>C
c.1294-5921G>C (n.1294-5921G>C)
c.1585-1564G>C (n.1585-1564G>C)
 ClinVar dbSNP
21g.45504533C>TCA410499314COL18A1,SLC19A1c.3385C>T (p.Pro1129Ser)
c.2845C>T (p.Pro949Ser)
c.886C>T (p.Pro296Ser)
c.4090C>T (p.Pro1364Ser)
c.498-5921G>A
c.1294-5921G>A (n.1294-5921G>A)
c.1585-1564G>A (n.1585-1564G>A)
21g.45504533_45504538delCA2740094753COL18A1,SLC19A1c.3385_3390del (p.Pro1129_Arg1130del)
c.2845_2850del (p.Pro949_Arg950del)
c.886_891del (p.Pro296_Arg297del)
c.4090_4095del (p.Pro1364_Arg1365del)
c.498-5926_498-5921del
c.1294-5926_1294-5921del (n.1294-5926_1294-5921del)
c.1585-1569_1585-1564del (n.1585-1569_1585-1564del)
 ClinVar
21g.45504534C>ACA410499315COL18A1,SLC19A1c.3386C>A (p.Pro1129Gln)
c.2846C>A (p.Pro949Gln)
c.887C>A (p.Pro296Gln)
c.4091C>A (p.Pro1364Gln)
c.498-5922G>T
c.1294-5922G>T (n.1294-5922G>T)
c.1585-1565G>T (n.1585-1565G>T)
21g.45504534C=CA2392190778COL18A1,SLC19A1c.3386C= (p.Pro1129=)
c.2846C= (p.Pro949=)
c.887C= (p.Pro296=)
c.4091C= (p.Pro1364=)
c.498-5922G=
c.1294-5922G= (n.1294-5922G=)
c.1585-1565G= (n.1585-1565G=)
21g.45504534C>GCA410499316COL18A1,SLC19A1c.3386C>G (p.Pro1129Arg)
c.2846C>G (p.Pro949Arg)
c.887C>G (p.Pro296Arg)
c.4091C>G (p.Pro1364Arg)
c.498-5922G>C
c.1294-5922G>C (n.1294-5922G>C)
c.1585-1565G>C (n.1585-1565G>C)
21g.45504534C>TCA410499317COL18A1,SLC19A1c.3386C>T (p.Pro1129Leu)
c.2846C>T (p.Pro949Leu)
c.887C>T (p.Pro296Leu)
c.4091C>T (p.Pro1364Leu)
c.498-5922G>A
c.1294-5922G>A (n.1294-5922G>A)
c.1585-1565G>A (n.1585-1565G>A)
 ClinVar dbSNP
21g.45504535A>CCA512687185COL18A1,SLC19A1c.3387A>C (p.Pro1129=)
c.2847A>C (p.Pro949=)
c.888A>C (p.Pro296=)
c.4092A>C (p.Pro1364=)
c.498-5923T>G
c.1294-5923T>G (n.1294-5923T>G)
c.3378A>C (p.Pro1126=)
c.4083A>C (p.Pro1361=)
c.2838A>C (p.Pro946=)
c.1585-1566T>G (n.1585-1566T>G)
21g.45504535A>GCA512687186COL18A1,SLC19A1c.3387A>G (p.Pro1129=)
c.2847A>G (p.Pro949=)
c.888A>G (p.Pro296=)
c.4092A>G (p.Pro1364=)
c.498-5923T>C
c.1294-5923T>C (n.1294-5923T>C)
c.3378A>G (p.Pro1126=)
c.4083A>G (p.Pro1361=)
c.2838A>G (p.Pro946=)
c.1585-1566T>C (n.1585-1566T>C)
21g.45504535A>TCA512687187COL18A1,SLC19A1c.3387A>T (p.Pro1129=)
c.2847A>T (p.Pro949=)
c.888A>T (p.Pro296=)
c.4092A>T (p.Pro1364=)
c.498-5923T>A
c.1294-5923T>A (n.1294-5923T>A)
c.3378A>T (p.Pro1126=)
c.4083A>T (p.Pro1361=)
c.2838A>T (p.Pro946=)
c.1585-1566T>A (n.1585-1566T>A)
21g.45504535_45504543delCA2740094754COL18A1,SLC19A1c.3387_3395del (p.Arg1130_Tyr1132del)
c.2847_2855del (p.Arg950_Tyr952del)
c.888_896del (p.Arg297_Tyr299del)
c.4092_4100del (p.Arg1365_Tyr1367del)
c.498-5931_498-5923del
c.1294-5931_1294-5923del (n.1294-5931_1294-5923del)
c.3378_3386del (p.Arg1127_Tyr1129del)
c.4083_4091del (p.Arg1362_Tyr1364del)
c.2838_2846del (p.Arg947_Tyr949del)
c.1585-1574_1585-1566del (n.1585-1574_1585-1566del)
 ClinVar
21g.45504536C>ACA410499318COL18A1,SLC19A1c.3388C>A (p.Arg1130Ser)
c.2848C>A (p.Arg950Ser)
c.889C>A (p.Arg297Ser)
c.4093C>A (p.Arg1365Ser)
c.498-5924G>T
c.1294-5924G>T (n.1294-5924G>T)
c.3379C>A (p.Arg1127Ser)
c.4084C>A (p.Arg1362Ser)
c.2839C>A (p.Arg947Ser)
c.1585-1567G>T (n.1585-1567G>T)
 gnomAD v4
21g.45504536C=CA2392190779COL18A1,SLC19A1c.3388C= (p.Arg1130=)
c.2848C= (p.Arg950=)
c.889C= (p.Arg297=)
c.4093C= (p.Arg1365=)
c.498-5924G=
c.1294-5924G= (n.1294-5924G=)
c.3379C= (p.Arg1127=)
c.4084C= (p.Arg1362=)
c.2839C= (p.Arg947=)
c.1585-1567G= (n.1585-1567G=)
21g.45504536C>GCA410499319COL18A1,SLC19A1c.3388C>G (p.Arg1130Gly)
c.2848C>G (p.Arg950Gly)
c.889C>G (p.Arg297Gly)
c.4093C>G (p.Arg1365Gly)
c.498-5924G>C
c.1294-5924G>C (n.1294-5924G>C)
c.3379C>G (p.Arg1127Gly)
c.4084C>G (p.Arg1362Gly)
c.2839C>G (p.Arg947Gly)
c.1585-1567G>C (n.1585-1567G>C)
21g.45504536C>TCA10067508COL18A1,SLC19A1c.3388C>T (p.Arg1130Cys)
c.2848C>T (p.Arg950Cys)
c.889C>T (p.Arg297Cys)
c.4093C>T (p.Arg1365Cys)
c.498-5924G>A
c.1294-5924G>A (n.1294-5924G>A)
c.3379C>T (p.Arg1127Cys)
c.4084C>T (p.Arg1362Cys)
c.2839C>T (p.Arg947Cys)
c.1585-1567G>A (n.1585-1567G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504537G>ACA10067509COL18A1,SLC19A1c.3389G>A (p.Arg1130His)
c.2849G>A (p.Arg950His)
c.890G>A (p.Arg297His)
c.4094G>A (p.Arg1365His)
c.498-5925C>T
c.1294-5925C>T (n.1294-5925C>T)
c.3380G>A (p.Arg1127His)
c.4085G>A (p.Arg1362His)
c.2840G>A (p.Arg947His)
c.1585-1568C>T (n.1585-1568C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504537G>CCA410499321COL18A1,SLC19A1c.3389G>C (p.Arg1130Pro)
c.2849G>C (p.Arg950Pro)
c.890G>C (p.Arg297Pro)
c.4094G>C (p.Arg1365Pro)
c.498-5925C>G
c.1294-5925C>G (n.1294-5925C>G)
c.3380G>C (p.Arg1127Pro)
c.4085G>C (p.Arg1362Pro)
c.2840G>C (p.Arg947Pro)
c.1585-1568C>G (n.1585-1568C>G)
 dbSNP gnomAD v3 gnomAD v4
21g.45504537G=CA2392190780COL18A1,SLC19A1c.3389G= (p.Arg1130=)
c.2849G= (p.Arg950=)
c.890G= (p.Arg297=)
c.4094G= (p.Arg1365=)
c.498-5925C=
c.1294-5925C= (n.1294-5925C=)
c.3380G= (p.Arg1127=)
c.4085G= (p.Arg1362=)
c.2840G= (p.Arg947=)
c.1585-1568C= (n.1585-1568C=)
21g.45504537G>TCA410499320COL18A1,SLC19A1c.3389G>T (p.Arg1130Leu)
c.2849G>T (p.Arg950Leu)
c.890G>T (p.Arg297Leu)
c.4094G>T (p.Arg1365Leu)
c.498-5925C>A
c.1294-5925C>A (n.1294-5925C>A)
c.3380G>T (p.Arg1127Leu)
c.4085G>T (p.Arg1362Leu)
c.2840G>T (p.Arg947Leu)
c.1585-1568C>A (n.1585-1568C>A)
21g.45504538T>ACA512687190COL18A1,SLC19A1c.3390T>A (p.Arg1130=)
c.2850T>A (p.Arg950=)
c.891T>A (p.Arg297=)
c.4095T>A (p.Arg1365=)
c.498-5926A>T
c.1294-5926A>T (n.1294-5926A>T)
c.3381T>A (p.Arg1127=)
c.4086T>A (p.Arg1362=)
c.2841T>A (p.Arg947=)
c.1585-1569A>T (n.1585-1569A>T)
 gnomAD v4
21g.45504538T>CCA512687189COL18A1,SLC19A1c.3390T>C (p.Arg1130=)
c.2850T>C (p.Arg950=)
c.891T>C (p.Arg297=)
c.4095T>C (p.Arg1365=)
c.498-5926A>G
c.1294-5926A>G (n.1294-5926A>G)
c.3381T>C (p.Arg1127=)
c.4086T>C (p.Arg1362=)
c.2841T>C (p.Arg947=)
c.1585-1569A>G (n.1585-1569A>G)
21g.45504538T>GCA512687188COL18A1,SLC19A1c.3390T>G (p.Arg1130=)
c.2850T>G (p.Arg950=)
c.891T>G (p.Arg297=)
c.4095T>G (p.Arg1365=)
c.498-5926A>C
c.1294-5926A>C (n.1294-5926A>C)
c.3381T>G (p.Arg1127=)
c.4086T>G (p.Arg1362=)
c.2841T>G (p.Arg947=)
c.1585-1569A>C (n.1585-1569A>C)
 gnomAD v4
21g.45504539G>ACA410499322COL18A1,SLC19A1c.3391G>A (p.Gly1131Ser)
c.2851G>A (p.Gly951Ser)
c.892G>A (p.Gly298Ser)
c.4096G>A (p.Gly1366Ser)
c.498-5927C>T
c.1294-5927C>T (n.1294-5927C>T)
c.3382G>A (p.Gly1128Ser)
c.4087G>A (p.Gly1363Ser)
c.2842G>A (p.Gly948Ser)
c.1585-1570C>T (n.1585-1570C>T)
21g.45504539G>CCA410499323COL18A1,SLC19A1c.3391G>C (p.Gly1131Arg)
c.2851G>C (p.Gly951Arg)
c.892G>C (p.Gly298Arg)
c.4096G>C (p.Gly1366Arg)
c.498-5927C>G
c.1294-5927C>G (n.1294-5927C>G)
c.3382G>C (p.Gly1128Arg)
c.4087G>C (p.Gly1363Arg)
c.2842G>C (p.Gly948Arg)
c.1585-1570C>G (n.1585-1570C>G)
21g.45504539G>TCA410499324COL18A1,SLC19A1c.3391G>T (p.Gly1131Cys)
c.2851G>T (p.Gly951Cys)
c.892G>T (p.Gly298Cys)
c.4096G>T (p.Gly1366Cys)
c.498-5927C>A
c.1294-5927C>A (n.1294-5927C>A)
c.3382G>T (p.Gly1128Cys)
c.4087G>T (p.Gly1363Cys)
c.2842G>T (p.Gly948Cys)
c.1585-1570C>A (n.1585-1570C>A)
21g.45504540delCA2654918485COL18A1,SLC19A1c.3392del (p.Gly1131AlafsTer?)
c.2852del (p.Gly951AlafsTer?)
c.893del (p.Gly298AlafsTer?)
c.4097del (p.Gly1366AlafsTer?)
c.498-5927del
c.1294-5927del (n.1294-5927del)
c.3383del (p.Gly1128AlafsTer?)
c.4088del (p.Gly1363AlafsTer?)
c.2843del (p.Gly948AlafsTer?)
c.1585-1570del (n.1585-1570del)
 gnomAD v4
21g.45504540G>ACA410499325COL18A1,SLC19A1c.3392G>A (p.Gly1131Asp)
c.2852G>A (p.Gly951Asp)
c.893G>A (p.Gly298Asp)
c.4097G>A (p.Gly1366Asp)
c.498-5928C>T
c.1294-5928C>T (n.1294-5928C>T)
c.3383G>A (p.Gly1128Asp)
c.4088G>A (p.Gly1363Asp)
c.2843G>A (p.Gly948Asp)
c.1585-1571C>T (n.1585-1571C>T)
21g.45504540G>CCA410499326COL18A1,SLC19A1c.3392G>C (p.Gly1131Ala)
c.2852G>C (p.Gly951Ala)
c.893G>C (p.Gly298Ala)
c.4097G>C (p.Gly1366Ala)
c.498-5928C>G
c.1294-5928C>G (n.1294-5928C>G)
c.3383G>C (p.Gly1128Ala)
c.4088G>C (p.Gly1363Ala)
c.2843G>C (p.Gly948Ala)
c.1585-1571C>G (n.1585-1571C>G)
21g.45504540G>TCA410499327COL18A1,SLC19A1c.3392G>T (p.Gly1131Val)
c.2852G>T (p.Gly951Val)
c.893G>T (p.Gly298Val)
c.4097G>T (p.Gly1366Val)
c.498-5928C>A
c.1294-5928C>A (n.1294-5928C>A)
c.3383G>T (p.Gly1128Val)
c.4088G>T (p.Gly1363Val)
c.2843G>T (p.Gly948Val)
c.1585-1571C>A (n.1585-1571C>A)
 gnomAD v4
21g.45504541C>ACA512687191COL18A1,SLC19A1c.3393C>A (p.Gly1131=)
c.2853C>A (p.Gly951=)
c.894C>A (p.Gly298=)
c.4098C>A (p.Gly1366=)
c.498-5929G>T
c.1294-5929G>T (n.1294-5929G>T)
c.3384C>A (p.Gly1128=)
c.4089C>A (p.Gly1363=)
c.2844C>A (p.Gly948=)
c.1585-1572G>T (n.1585-1572G>T)
 gnomAD v4
21g.45504541C>GCA512687192COL18A1,SLC19A1c.3393C>G (p.Gly1131=)
c.2853C>G (p.Gly951=)
c.894C>G (p.Gly298=)
c.4098C>G (p.Gly1366=)
c.498-5929G>C
c.1294-5929G>C (n.1294-5929G>C)
c.3384C>G (p.Gly1128=)
c.4089C>G (p.Gly1363=)
c.2844C>G (p.Gly948=)
c.1585-1572G>C (n.1585-1572G>C)
 gnomAD v4
21g.45504541C>TCA512687193COL18A1,SLC19A1c.3393C>T (p.Gly1131=)
c.2853C>T (p.Gly951=)
c.894C>T (p.Gly298=)
c.4098C>T (p.Gly1366=)
c.498-5929G>A
c.1294-5929G>A (n.1294-5929G>A)
c.3384C>T (p.Gly1128=)
c.4089C>T (p.Gly1363=)
c.2844C>T (p.Gly948=)
c.1585-1572G>A (n.1585-1572G>A)
 ClinVar dbSNP gnomAD v4
21g.45504542T>ACA410499330COL18A1,SLC19A1c.3394T>A (p.Tyr1132Asn)
c.2854T>A (p.Tyr952Asn)
c.895T>A (p.Tyr299Asn)
c.4099T>A (p.Tyr1367Asn)
c.498-5930A>T
c.1294-5930A>T (n.1294-5930A>T)
c.3385T>A (p.Tyr1129Asn)
c.4090T>A (p.Tyr1364Asn)
c.2845T>A (p.Tyr949Asn)
c.1585-1573A>T (n.1585-1573A>T)
 gnomAD v4
21g.45504542T>CCA410499328COL18A1,SLC19A1c.3394T>C (p.Tyr1132His)
c.2854T>C (p.Tyr952His)
c.895T>C (p.Tyr299His)
c.4099T>C (p.Tyr1367His)
c.498-5930A>G
c.1294-5930A>G (n.1294-5930A>G)
c.3385T>C (p.Tyr1129His)
c.4090T>C (p.Tyr1364His)
c.2845T>C (p.Tyr949His)
c.1585-1573A>G (n.1585-1573A>G)
21g.45504542T>GCA410499329COL18A1,SLC19A1c.3394T>G (p.Tyr1132Asp)
c.2854T>G (p.Tyr952Asp)
c.895T>G (p.Tyr299Asp)
c.4099T>G (p.Tyr1367Asp)
c.498-5930A>C
c.1294-5930A>C (n.1294-5930A>C)
c.3385T>G (p.Tyr1129Asp)
c.4090T>G (p.Tyr1364Asp)
c.2845T>G (p.Tyr949Asp)
c.1585-1573A>C (n.1585-1573A>C)
21g.45504543A>CCA410499331COL18A1,SLC19A1c.3395A>C (p.Tyr1132Ser)
c.2855A>C (p.Tyr952Ser)
c.896A>C (p.Tyr299Ser)
c.4100A>C (p.Tyr1367Ser)
c.498-5931T>G
c.1294-5931T>G (n.1294-5931T>G)
c.3386A>C (p.Tyr1129Ser)
c.4091A>C (p.Tyr1364Ser)
c.2846A>C (p.Tyr949Ser)
c.1585-1574T>G (n.1585-1574T>G)
21g.45504543A>GCA410499332COL18A1,SLC19A1c.3395A>G (p.Tyr1132Cys)
c.2855A>G (p.Tyr952Cys)
c.896A>G (p.Tyr299Cys)
c.4100A>G (p.Tyr1367Cys)
c.498-5931T>C
c.1294-5931T>C (n.1294-5931T>C)
c.3386A>G (p.Tyr1129Cys)
c.4091A>G (p.Tyr1364Cys)
c.2846A>G (p.Tyr949Cys)
c.1585-1574T>C (n.1585-1574T>C)
21g.45504543A>TCA410499333COL18A1,SLC19A1c.3395A>T (p.Tyr1132Phe)
c.2855A>T (p.Tyr952Phe)
c.896A>T (p.Tyr299Phe)
c.4100A>T (p.Tyr1367Phe)
c.498-5931T>A
c.1294-5931T>A (n.1294-5931T>A)
c.3386A>T (p.Tyr1129Phe)
c.4091A>T (p.Tyr1364Phe)
c.2846A>T (p.Tyr949Phe)
c.1585-1574T>A (n.1585-1574T>A)
21g.45504544C>ACA410499334COL18A1,SLC19A1c.3396C>A (p.Tyr1132Ter)
c.2856C>A (p.Tyr952Ter)
c.897C>A (p.Tyr299Ter)
c.4101C>A (p.Tyr1367Ter)
c.498-5932G>T
c.1294-5932G>T (n.1294-5932G>T)
c.3387C>A (p.Tyr1129Ter)
c.4092C>A (p.Tyr1364Ter)
c.2847C>A (p.Tyr949Ter)
c.1585-1575G>T (n.1585-1575G>T)
21g.45504544C=CA2392190781COL18A1,SLC19A1c.3396C= (p.Tyr1132=)
c.2856C= (p.Tyr952=)
c.897C= (p.Tyr299=)
c.4101C= (p.Tyr1367=)
c.498-5932G=
c.1294-5932G= (n.1294-5932G=)
c.3387C= (p.Tyr1129=)
c.4092C= (p.Tyr1364=)
c.2847C= (p.Tyr949=)
c.1585-1575G= (n.1585-1575G=)
21g.45504544C>GCA410499335COL18A1,SLC19A1c.3396C>G (p.Tyr1132Ter)
c.2856C>G (p.Tyr952Ter)
c.897C>G (p.Tyr299Ter)
c.4101C>G (p.Tyr1367Ter)
c.498-5932G>C
c.1294-5932G>C (n.1294-5932G>C)
c.3387C>G (p.Tyr1129Ter)
c.4092C>G (p.Tyr1364Ter)
c.2847C>G (p.Tyr949Ter)
c.1585-1575G>C (n.1585-1575G>C)
21g.45504544C>TCA512687194COL18A1,SLC19A1c.3396C>T (p.Tyr1132=)
c.2856C>T (p.Tyr952=)
c.897C>T (p.Tyr299=)
c.4101C>T (p.Tyr1367=)
c.498-5932G>A
c.1294-5932G>A (n.1294-5932G>A)
c.3387C>T (p.Tyr1129=)
c.4092C>T (p.Tyr1364=)
c.2847C>T (p.Tyr949=)
c.1585-1575G>A (n.1585-1575G>A)
 dbSNP gnomAD v4
21g.45504545C>ACA410499336COL18A1,SLC19A1c.3397C>A (p.Pro1133Thr)
c.2857C>A (p.Pro953Thr)
c.898C>A (p.Pro300Thr)
c.4102C>A (p.Pro1368Thr)
c.498-5933G>T
c.1294-5933G>T (n.1294-5933G>T)
c.3388C>A (p.Pro1130Thr)
c.4093C>A (p.Pro1365Thr)
c.2848C>A (p.Pro950Thr)
c.1585-1576G>T (n.1585-1576G>T)
 dbSNP gnomAD v2 gnomAD v4
21g.45504545C=CA2392190782COL18A1,SLC19A1c.3397C= (p.Pro1133=)
c.2857C= (p.Pro953=)
c.898C= (p.Pro300=)
c.4102C= (p.Pro1368=)
c.498-5933G=
c.1294-5933G= (n.1294-5933G=)
c.3388C= (p.Pro1130=)
c.4093C= (p.Pro1365=)
c.2848C= (p.Pro950=)
c.1585-1576G= (n.1585-1576G=)
21g.45504545C>GCA410499337COL18A1,SLC19A1c.3397C>G (p.Pro1133Ala)
c.2857C>G (p.Pro953Ala)
c.898C>G (p.Pro300Ala)
c.4102C>G (p.Pro1368Ala)
c.498-5933G>C
c.1294-5933G>C (n.1294-5933G>C)
c.3388C>G (p.Pro1130Ala)
c.4093C>G (p.Pro1365Ala)
c.2848C>G (p.Pro950Ala)
c.1585-1576G>C (n.1585-1576G>C)
21g.45504545C>TCA10067510COL18A1,SLC19A1c.3397C>T (p.Pro1133Ser)
c.2857C>T (p.Pro953Ser)
c.898C>T (p.Pro300Ser)
c.4102C>T (p.Pro1368Ser)
c.498-5933G>A
c.1294-5933G>A (n.1294-5933G>A)
c.3388C>T (p.Pro1130Ser)
c.4093C>T (p.Pro1365Ser)
c.2848C>T (p.Pro950Ser)
c.1585-1576G>A (n.1585-1576G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504546C>ACA410499338COL18A1,SLC19A1c.3398C>A (p.Pro1133His)
c.2858C>A (p.Pro953His)
c.899C>A (p.Pro300His)
c.4103C>A (p.Pro1368His)
c.498-5934G>T
c.1294-5934G>T (n.1294-5934G>T)
c.3389C>A (p.Pro1130His)
c.4094C>A (p.Pro1365His)
c.2849C>A (p.Pro950His)
c.1585-1577G>T (n.1585-1577G>T)
 dbSNP gnomAD v2 gnomAD v4
21g.45504546C=CA2392190783COL18A1,SLC19A1c.3398C= (p.Pro1133=)
c.2858C= (p.Pro953=)
c.899C= (p.Pro300=)
c.4103C= (p.Pro1368=)
c.498-5934G=
c.1294-5934G= (n.1294-5934G=)
c.3389C= (p.Pro1130=)
c.4094C= (p.Pro1365=)
c.2849C= (p.Pro950=)
c.1585-1577G= (n.1585-1577G=)
21g.45504546C>GCA410499339COL18A1,SLC19A1c.3398C>G (p.Pro1133Arg)
c.2858C>G (p.Pro953Arg)
c.899C>G (p.Pro300Arg)
c.4103C>G (p.Pro1368Arg)
c.498-5934G>C
c.1294-5934G>C (n.1294-5934G>C)
c.3389C>G (p.Pro1130Arg)
c.4094C>G (p.Pro1365Arg)
c.2849C>G (p.Pro950Arg)
c.1585-1577G>C (n.1585-1577G>C)
21g.45504546C>TCA410499340COL18A1,SLC19A1c.3398C>T (p.Pro1133Leu)
c.2858C>T (p.Pro953Leu)
c.899C>T (p.Pro300Leu)
c.4103C>T (p.Pro1368Leu)
c.498-5934G>A
c.1294-5934G>A (n.1294-5934G>A)
c.3389C>T (p.Pro1130Leu)
c.4094C>T (p.Pro1365Leu)
c.2849C>T (p.Pro950Leu)
c.1585-1577G>A (n.1585-1577G>A)
21g.45504547T>ACA512687195COL18A1,SLC19A1c.3399T>A (p.Pro1133=)
c.2859T>A (p.Pro953=)
c.900T>A (p.Pro300=)
c.4104T>A (p.Pro1368=)
c.498-5935A>T
c.1294-5935A>T (n.1294-5935A>T)
c.3390T>A (p.Pro1130=)
c.4095T>A (p.Pro1365=)
c.2850T>A (p.Pro950=)
c.1585-1578A>T (n.1585-1578A>T)
 gnomAD v4
21g.45504547T>CCA10067511COL18A1,SLC19A1c.3399T>C (p.Pro1133=)
c.2859T>C (p.Pro953=)
c.900T>C (p.Pro300=)
c.4104T>C (p.Pro1368=)
c.498-5935A>G
c.1294-5935A>G (n.1294-5935A>G)
c.3390T>C (p.Pro1130=)
c.4095T>C (p.Pro1365=)
c.2850T>C (p.Pro950=)
c.1585-1578A>G (n.1585-1578A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504547T>GCA512687196COL18A1,SLC19A1c.3399T>G (p.Pro1133=)
c.2859T>G (p.Pro953=)
c.900T>G (p.Pro300=)
c.4104T>G (p.Pro1368=)
c.498-5935A>C
c.1294-5935A>C (n.1294-5935A>C)
c.3390T>G (p.Pro1130=)
c.4095T>G (p.Pro1365=)
c.2850T>G (p.Pro950=)
c.1585-1578A>C (n.1585-1578A>C)
 dbSNP gnomAD v2 gnomAD v4
21g.45504547T=CA2392190784COL18A1,SLC19A1c.3399T= (p.Pro1133=)
c.2859T= (p.Pro953=)
c.900T= (p.Pro300=)
c.4104T= (p.Pro1368=)
c.498-5935A=
c.1294-5935A= (n.1294-5935A=)
c.3390T= (p.Pro1130=)
c.4095T= (p.Pro1365=)
c.2850T= (p.Pro950=)
c.1585-1578A= (n.1585-1578A=)
21g.45504548G>ACA410499341COL18A1,SLC19A1c.3400G>A (p.Gly1134Arg)
c.2860G>A (p.Gly954Arg)
c.901G>A (p.Gly301Arg)
c.4105G>A (p.Gly1369Arg)
c.498-5936C>T
c.1294-5936C>T (n.1294-5936C>T)
c.3391G>A (p.Gly1131Arg)
c.4096G>A (p.Gly1366Arg)
c.2851G>A (p.Gly951Arg)
c.1585-1579C>T (n.1585-1579C>T)
21g.45504548G>CCA410499342COL18A1,SLC19A1c.3400G>C (p.Gly1134Arg)
c.2860G>C (p.Gly954Arg)
c.901G>C (p.Gly301Arg)
c.4105G>C (p.Gly1369Arg)
c.498-5936C>G
c.1294-5936C>G (n.1294-5936C>G)
c.3391G>C (p.Gly1131Arg)
c.4096G>C (p.Gly1366Arg)
c.2851G>C (p.Gly951Arg)
c.1585-1579C>G (n.1585-1579C>G)
21g.45504548G>TCA410499343COL18A1,SLC19A1c.3400G>T (p.Gly1134Trp)
c.2860G>T (p.Gly954Trp)
c.901G>T (p.Gly301Trp)
c.4105G>T (p.Gly1369Trp)
c.498-5936C>A
c.1294-5936C>A (n.1294-5936C>A)
c.3391G>T (p.Gly1131Trp)
c.4096G>T (p.Gly1366Trp)
c.2851G>T (p.Gly951Trp)
c.1585-1579C>A (n.1585-1579C>A)
21g.45504550dupCA2654918504COL18A1,SLC19A1c.3402dup (p.Ile1135AspfsTer?)
c.2862dup (p.Ile955AspfsTer?)
c.903dup (p.Ile302AspfsTer?)
c.4107dup (p.Ile1370AspfsTer?)
c.498-5936dup
c.1294-5936dup (n.1294-5936dup)
c.3393dup (p.Ile1132AspfsTer?)
c.4098dup (p.Ile1367AspfsTer?)
c.2853dup (p.Ile952AspfsTer?)
c.1585-1579dup (n.1585-1579dup)
 gnomAD v4

Number of alleles fetched