Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.45504413C>ACA321921207COL18A1,SLC19A1c.3268-3C>A (n.3268-3C>A)
c.2728-3C>A (n.2728-3C>A)
c.769-3C>A (n.769-3C>A)
c.3973-3C>A (n.3973-3C>A)
c.498-5801G>T
c.1294-5801G>T (n.1294-5801G>T)
c.1585-1444G>T (n.1585-1444G>T)
 dbSNP
21g.45504413C=CA2392190657COL18A1,SLC19A1c.3268-3C= (n.3268-3C=)
c.2728-3C= (n.2728-3C=)
c.769-3C= (n.769-3C=)
c.3973-3C= (n.3973-3C=)
c.498-5801G=
c.1294-5801G= (n.1294-5801G=)
c.1585-1444G= (n.1585-1444G=)
21g.45504413C>TCA2654917785COL18A1,SLC19A1c.3268-3C>T (n.3268-3C>T)
c.2728-3C>T (n.2728-3C>T)
c.769-3C>T (n.769-3C>T)
c.3973-3C>T (n.3973-3C>T)
c.498-5801G>A
c.1294-5801G>A (n.1294-5801G>A)
c.1585-1444G>A (n.1585-1444G>A)
 gnomAD v4
21g.45504414delCA2573157794COL18A1,SLC19A1c.3268-2del (n.3268-2del)
c.2728-2del (n.2728-2del)
c.769-2del (n.769-2del)
c.3973-2del (n.3973-2del)
c.498-5802del
c.1294-5802del (n.1294-5802del)
c.1585-1445del (n.1585-1445del)
 ClinVar dbSNP
21g.45504414A=CA2392190658COL18A1,SLC19A1c.3268-2A= (n.3268-2A=)
c.2728-2A= (n.2728-2A=)
c.769-2A= (n.769-2A=)
c.3973-2A= (n.3973-2A=)
c.498-5802T=
c.1294-5802T= (n.1294-5802T=)
c.1585-1445T= (n.1585-1445T=)
21g.45504414A>CCA410499087COL18A1,SLC19A1c.3268-2A>C (n.3268-2A>C)
c.2728-2A>C (n.2728-2A>C)
c.769-2A>C (n.769-2A>C)
c.3973-2A>C (n.3973-2A>C)
c.498-5802T>G
c.1294-5802T>G (n.1294-5802T>G)
c.1585-1445T>G (n.1585-1445T>G)
21g.45504414A>GCA410499088COL18A1,SLC19A1c.3268-2A>G (n.3268-2A>G)
c.2728-2A>G (n.2728-2A>G)
c.769-2A>G (n.769-2A>G)
c.3973-2A>G (n.3973-2A>G)
c.498-5802T>C
c.1294-5802T>C (n.1294-5802T>C)
c.1585-1445T>C (n.1585-1445T>C)
21g.45504414A>TCA410499089COL18A1,SLC19A1c.3268-2A>T (n.3268-2A>T)
c.2728-2A>T (n.2728-2A>T)
c.769-2A>T (n.769-2A>T)
c.3973-2A>T (n.3973-2A>T)
c.498-5802T>A
c.1294-5802T>A (n.1294-5802T>A)
c.1585-1445T>A (n.1585-1445T>A)
21g.45504414_45504415delCA2580098858COL18A1,SLC19A1c.3268-2_3268-1del (n.3268-2_3268-1del)
c.2728-2_2728-1del (n.2728-2_2728-1del)
c.769-2_769-1del (n.769-2_769-1del)
c.3973-2_3973-1del (n.3973-2_3973-1del)
c.498-5803_498-5802del
c.1294-5803_1294-5802del (n.1294-5803_1294-5802del)
c.1585-1446_1585-1445del (n.1585-1446_1585-1445del)
 ClinVar
21g.45504415G>ACA410499090COL18A1,SLC19A1c.3268-1G>A (n.3268-1G>A)
c.2728-1G>A (n.2728-1G>A)
c.769-1G>A (n.769-1G>A)
c.3973-1G>A (n.3973-1G>A)
c.498-5803C>T
c.1294-5803C>T (n.1294-5803C>T)
c.1585-1446C>T (n.1585-1446C>T)
 gnomAD v4
21g.45504415G>CCA410499092COL18A1,SLC19A1c.3268-1G>C (n.3268-1G>C)
c.2728-1G>C (n.2728-1G>C)
c.769-1G>C (n.769-1G>C)
c.3973-1G>C (n.3973-1G>C)
c.498-5803C>G
c.1294-5803C>G (n.1294-5803C>G)
c.1585-1446C>G (n.1585-1446C>G)
21g.45504415G>TCA410499091COL18A1,SLC19A1c.3268-1G>T (n.3268-1G>T)
c.2728-1G>T (n.2728-1G>T)
c.769-1G>T (n.769-1G>T)
c.3973-1G>T (n.3973-1G>T)
c.498-5803C>A
c.1294-5803C>A (n.1294-5803C>A)
c.1585-1446C>A (n.1585-1446C>A)
21g.45504419dupCA10067439COL18A1,SLC19A1c.3271dup
c.2731dup
c.772dup
c.3976dup
c.498-5803dup
c.1294-5803dup (n.1294-5803dup)
c.1585-1446dup (n.1585-1446dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504419delCA645607891COL18A1,SLC19A1c.3271del
c.2731del
c.772del
c.3976del
c.498-5803del
c.1294-5803del (n.1294-5803del)
c.1585-1446del (n.1585-1446del)
 gnomAD v4 COSMIC COSMIC COSMIC
21g.45504416G>ACA10067440COL18A1,SLC19A1c.3268G>A (p.Gly1090Arg)
c.2728G>A (p.Gly910Arg)
c.769G>A (p.Gly257Arg)
c.3973G>A (p.Gly1325Arg)
c.498-5804C>T
c.1294-5804C>T (n.1294-5804C>T)
c.1585-1447C>T (n.1585-1447C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504416G>CCA10067441COL18A1,SLC19A1c.3268G>C (p.Gly1090Arg)
c.2728G>C (p.Gly910Arg)
c.769G>C (p.Gly257Arg)
c.3973G>C (p.Gly1325Arg)
c.498-5804C>G
c.1294-5804C>G (n.1294-5804C>G)
c.1585-1447C>G (n.1585-1447C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504416G=CA2392190659COL18A1,SLC19A1c.3268G= (p.Gly1090=)
c.2728G= (p.Gly910=)
c.769G= (p.Gly257=)
c.3973G= (p.Gly1325=)
c.498-5804C=
c.1294-5804C= (n.1294-5804C=)
c.1585-1447C= (n.1585-1447C=)
21g.45504416G>TCA410499093COL18A1,SLC19A1c.3268G>T (p.Gly1090Trp)
c.2728G>T (p.Gly910Trp)
c.769G>T (p.Gly257Trp)
c.3973G>T (p.Gly1325Trp)
c.498-5804C>A
c.1294-5804C>A (n.1294-5804C>A)
c.1585-1447C>A (n.1585-1447C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.45504417G>ACA10067442COL18A1,SLC19A1c.3269G>A (p.Gly1090Glu)
c.2729G>A (p.Gly910Glu)
c.770G>A (p.Gly257Glu)
c.3974G>A (p.Gly1325Glu)
c.498-5805C>T
c.1294-5805C>T (n.1294-5805C>T)
c.1585-1448C>T (n.1585-1448C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.45504417G>CCA410499094COL18A1,SLC19A1c.3269G>C (p.Gly1090Ala)
c.2729G>C (p.Gly910Ala)
c.770G>C (p.Gly257Ala)
c.3974G>C (p.Gly1325Ala)
c.498-5805C>G
c.1294-5805C>G (n.1294-5805C>G)
c.1585-1448C>G (n.1585-1448C>G)
21g.45504417G=CA2392190660COL18A1,SLC19A1c.3269G= (p.Gly1090=)
c.2729G= (p.Gly910=)
c.770G= (p.Gly257=)
c.3974G= (p.Gly1325=)
c.498-5805C=
c.1294-5805C= (n.1294-5805C=)
c.1585-1448C= (n.1585-1448C=)
21g.45504417G>TCA410499095COL18A1,SLC19A1c.3269G>T (p.Gly1090Val)
c.2729G>T (p.Gly910Val)
c.770G>T (p.Gly257Val)
c.3974G>T (p.Gly1325Val)
c.498-5805C>A
c.1294-5805C>A (n.1294-5805C>A)
c.1585-1448C>A (n.1585-1448C>A)
21g.45504418G>ACA512687110COL18A1,SLC19A1c.3270G>A (p.Gly1090=)
c.2730G>A (p.Gly910=)
c.771G>A (p.Gly257=)
c.3975G>A (p.Gly1325=)
c.498-5806C>T
c.1294-5806C>T (n.1294-5806C>T)
c.1585-1449C>T (n.1585-1449C>T)
 gnomAD v4
21g.45504418G>CCA512687111COL18A1,SLC19A1c.3270G>C (p.Gly1090=)
c.2730G>C (p.Gly910=)
c.771G>C (p.Gly257=)
c.3975G>C (p.Gly1325=)
c.498-5806C>G
c.1294-5806C>G (n.1294-5806C>G)
c.1585-1449C>G (n.1585-1449C>G)
21g.45504418G>TCA512687112COL18A1,SLC19A1c.3270G>T (p.Gly1090=)
c.2730G>T (p.Gly910=)
c.771G>T (p.Gly257=)
c.3975G>T (p.Gly1325=)
c.498-5806C>A
c.1294-5806C>A (n.1294-5806C>A)
c.1585-1449C>A (n.1585-1449C>A)
21g.45504419_45504421delCA2654917809COL18A1,SLC19A1c.3271_3273del (p.Glu1091del)
c.2731_2733del (p.Glu911del)
c.772_774del (p.Glu258del)
c.3976_3978del (p.Glu1326del)
c.498-5808_498-5806del
c.1294-5808_1294-5806del (n.1294-5808_1294-5806del)
c.1585-1451_1585-1449del (n.1585-1451_1585-1449del)
 gnomAD v4
21g.45504419G>ACA321921208COL18A1,SLC19A1c.3271G>A (p.Glu1091Lys)
c.2731G>A (p.Glu911Lys)
c.772G>A (p.Glu258Lys)
c.3976G>A (p.Glu1326Lys)
c.498-5807C>T
c.1294-5807C>T (n.1294-5807C>T)
c.1585-1450C>T (n.1585-1450C>T)
 dbSNP
21g.45504419G>CCA410499096COL18A1,SLC19A1c.3271G>C (p.Glu1091Gln)
c.2731G>C (p.Glu911Gln)
c.772G>C (p.Glu258Gln)
c.3976G>C (p.Glu1326Gln)
c.498-5807C>G
c.1294-5807C>G (n.1294-5807C>G)
c.1585-1450C>G (n.1585-1450C>G)
 gnomAD v4
21g.45504419G=CA2392190661COL18A1,SLC19A1c.3271G= (p.Glu1091=)
c.2731G= (p.Glu911=)
c.772G= (p.Glu258=)
c.3976G= (p.Glu1326=)
c.498-5807C=
c.1294-5807C= (n.1294-5807C=)
c.1585-1450C= (n.1585-1450C=)
21g.45504419G>TCA410499097COL18A1,SLC19A1c.3271G>T (p.Glu1091Ter)
c.2731G>T (p.Glu911Ter)
c.772G>T (p.Glu258Ter)
c.3976G>T (p.Glu1326Ter)
c.498-5807C>A
c.1294-5807C>A (n.1294-5807C>A)
c.1585-1450C>A (n.1585-1450C>A)
21g.45504420A>CCA410499098COL18A1,SLC19A1c.3272A>C (p.Glu1091Ala)
c.2732A>C (p.Glu911Ala)
c.773A>C (p.Glu258Ala)
c.3977A>C (p.Glu1326Ala)
c.498-5808T>G
c.1294-5808T>G (n.1294-5808T>G)
c.1585-1451T>G (n.1585-1451T>G)
21g.45504420A>GCA410499099COL18A1,SLC19A1c.3272A>G (p.Glu1091Gly)
c.2732A>G (p.Glu911Gly)
c.773A>G (p.Glu258Gly)
c.3977A>G (p.Glu1326Gly)
c.498-5808T>C
c.1294-5808T>C (n.1294-5808T>C)
c.1585-1451T>C (n.1585-1451T>C)
21g.45504420A>TCA410499100COL18A1,SLC19A1c.3272A>T (p.Glu1091Val)
c.2732A>T (p.Glu911Val)
c.773A>T (p.Glu258Val)
c.3977A>T (p.Glu1326Val)
c.498-5808T>A
c.1294-5808T>A (n.1294-5808T>A)
c.1585-1451T>A (n.1585-1451T>A)
21g.45504421delCA2818083963COL18A1,SLC19A1c.3273del (p.Lys1092ArgfsTer?)
c.2733del (p.Lys912ArgfsTer?)
c.774del (p.Lys259ArgfsTer?)
c.3978del (p.Lys1327ArgfsTer?)
c.498-5809del
c.1294-5809del (n.1294-5809del)
c.1585-1452del (n.1585-1452del)
21g.45504421G>ACA512687113COL18A1,SLC19A1c.3273G>A (p.Glu1091=)
c.2733G>A (p.Glu911=)
c.774G>A (p.Glu258=)
c.3978G>A (p.Glu1326=)
c.498-5809C>T
c.1294-5809C>T (n.1294-5809C>T)
c.1585-1452C>T (n.1585-1452C>T)
 dbSNP gnomAD v3 gnomAD v4
21g.45504421G>CCA410499101COL18A1,SLC19A1c.3273G>C (p.Glu1091Asp)
c.2733G>C (p.Glu911Asp)
c.774G>C (p.Glu258Asp)
c.3978G>C (p.Glu1326Asp)
c.498-5809C>G
c.1294-5809C>G (n.1294-5809C>G)
c.1585-1452C>G (n.1585-1452C>G)
21g.45504421G=CA2392190662COL18A1,SLC19A1c.3273G= (p.Glu1091=)
c.2733G= (p.Glu911=)
c.774G= (p.Glu258=)
c.3978G= (p.Glu1326=)
c.498-5809C=
c.1294-5809C= (n.1294-5809C=)
c.1585-1452C= (n.1585-1452C=)
21g.45504421G>TCA410499102COL18A1,SLC19A1c.3273G>T (p.Glu1091Asp)
c.2733G>T (p.Glu911Asp)
c.774G>T (p.Glu258Asp)
c.3978G>T (p.Glu1326Asp)
c.498-5809C>A
c.1294-5809C>A (n.1294-5809C>A)
c.1585-1452C>A (n.1585-1452C>A)
 gnomAD v4
21g.45504422A>CCA410499103COL18A1,SLC19A1c.3274A>C (p.Lys1092Gln)
c.2734A>C (p.Lys912Gln)
c.775A>C (p.Lys259Gln)
c.3979A>C (p.Lys1327Gln)
c.498-5810T>G
c.1294-5810T>G (n.1294-5810T>G)
c.1585-1453T>G (n.1585-1453T>G)
21g.45504422A>GCA410499105COL18A1,SLC19A1c.3274A>G (p.Lys1092Glu)
c.2734A>G (p.Lys912Glu)
c.775A>G (p.Lys259Glu)
c.3979A>G (p.Lys1327Glu)
c.498-5810T>C
c.1294-5810T>C (n.1294-5810T>C)
c.1585-1453T>C (n.1585-1453T>C)
21g.45504422A>TCA410499104COL18A1,SLC19A1c.3274A>T (p.Lys1092Ter)
c.2734A>T (p.Lys912Ter)
c.775A>T (p.Lys259Ter)
c.3979A>T (p.Lys1327Ter)
c.498-5810T>A
c.1294-5810T>A (n.1294-5810T>A)
c.1585-1453T>A (n.1585-1453T>A)
21g.45504423A=CA2392190663COL18A1,SLC19A1c.3275A= (p.Lys1092=)
c.2735A= (p.Lys912=)
c.776A= (p.Lys259=)
c.3980A= (p.Lys1327=)
c.498-5811T=
c.1294-5811T= (n.1294-5811T=)
c.1585-1454T= (n.1585-1454T=)
21g.45504423A>CCA410499106COL18A1,SLC19A1c.3275A>C (p.Lys1092Thr)
c.2735A>C (p.Lys912Thr)
c.776A>C (p.Lys259Thr)
c.3980A>C (p.Lys1327Thr)
c.498-5811T>G
c.1294-5811T>G (n.1294-5811T>G)
c.1585-1454T>G (n.1585-1454T>G)
21g.45504423A>GCA321921209COL18A1,SLC19A1c.3275A>G (p.Lys1092Arg)
c.2735A>G (p.Lys912Arg)
c.776A>G (p.Lys259Arg)
c.3980A>G (p.Lys1327Arg)
c.498-5811T>C
c.1294-5811T>C (n.1294-5811T>C)
c.1585-1454T>C (n.1585-1454T>C)
 dbSNP gnomAD v4
21g.45504423A>TCA410499107COL18A1,SLC19A1c.3275A>T (p.Lys1092Met)
c.2735A>T (p.Lys912Met)
c.776A>T (p.Lys259Met)
c.3980A>T (p.Lys1327Met)
c.498-5811T>A
c.1294-5811T>A (n.1294-5811T>A)
c.1585-1454T>A (n.1585-1454T>A)
21g.45504424G>ACA512687114COL18A1,SLC19A1c.3276G>A (p.Lys1092=)
c.2736G>A (p.Lys912=)
c.777G>A (p.Lys259=)
c.3981G>A (p.Lys1327=)
c.498-5812C>T
c.1294-5812C>T (n.1294-5812C>T)
c.1585-1455C>T (n.1585-1455C>T)
21g.45504424G>CCA10067443COL18A1,SLC19A1c.3276G>C (p.Lys1092Asn)
c.2736G>C (p.Lys912Asn)
c.777G>C (p.Lys259Asn)
c.3981G>C (p.Lys1327Asn)
c.498-5812C>G
c.1294-5812C>G (n.1294-5812C>G)
c.1585-1455C>G (n.1585-1455C>G)
 dbSNP ExAC
21g.45504424G=CA2392190664COL18A1,SLC19A1c.3276G= (p.Lys1092=)
c.2736G= (p.Lys912=)
c.777G= (p.Lys259=)
c.3981G= (p.Lys1327=)
c.498-5812C=
c.1294-5812C= (n.1294-5812C=)
c.1585-1455C= (n.1585-1455C=)
21g.45504424G>TCA410499108COL18A1,SLC19A1c.3276G>T (p.Lys1092Asn)
c.2736G>T (p.Lys912Asn)
c.777G>T (p.Lys259Asn)
c.3981G>T (p.Lys1327Asn)
c.498-5812C>A
c.1294-5812C>A (n.1294-5812C>A)
c.1585-1455C>A (n.1585-1455C>A)
21g.45504425G>ACA410499109COL18A1,SLC19A1c.3277G>A (p.Gly1093Arg)
c.2737G>A (p.Gly913Arg)
c.778G>A (p.Gly260Arg)
c.3982G>A (p.Gly1328Arg)
c.498-5813C>T
c.1294-5813C>T (n.1294-5813C>T)
c.1585-1456C>T (n.1585-1456C>T)
21g.45504425G>CCA410499110COL18A1,SLC19A1c.3277G>C (p.Gly1093Arg)
c.2737G>C (p.Gly913Arg)
c.778G>C (p.Gly260Arg)
c.3982G>C (p.Gly1328Arg)
c.498-5813C>G
c.1294-5813C>G (n.1294-5813C>G)
c.1585-1456C>G (n.1585-1456C>G)
21g.45504425G>TCA410499111COL18A1,SLC19A1c.3277G>T (p.Gly1093Ter)
c.2737G>T (p.Gly913Ter)
c.778G>T (p.Gly260Ter)
c.3982G>T (p.Gly1328Ter)
c.498-5813C>A
c.1294-5813C>A (n.1294-5813C>A)
c.1585-1456C>A (n.1585-1456C>A)
21g.45504426G>ACA410499112COL18A1,SLC19A1c.3278G>A (p.Gly1093Glu)
c.2738G>A (p.Gly913Glu)
c.779G>A (p.Gly260Glu)
c.3983G>A (p.Gly1328Glu)
c.498-5814C>T
c.1294-5814C>T (n.1294-5814C>T)
c.1585-1457C>T (n.1585-1457C>T)
 gnomAD v4
21g.45504426G>CCA410499113COL18A1,SLC19A1c.3278G>C (p.Gly1093Ala)
c.2738G>C (p.Gly913Ala)
c.779G>C (p.Gly260Ala)
c.3983G>C (p.Gly1328Ala)
c.498-5814C>G
c.1294-5814C>G (n.1294-5814C>G)
c.1585-1457C>G (n.1585-1457C>G)
21g.45504426G>TCA410499114COL18A1,SLC19A1c.3278G>T (p.Gly1093Val)
c.2738G>T (p.Gly913Val)
c.779G>T (p.Gly260Val)
c.3983G>T (p.Gly1328Val)
c.498-5814C>A
c.1294-5814C>A (n.1294-5814C>A)
c.1585-1457C>A (n.1585-1457C>A)
21g.45504427A>CCA512687117COL18A1,SLC19A1c.3279A>C (p.Gly1093=)
c.2739A>C (p.Gly913=)
c.780A>C (p.Gly260=)
c.3984A>C (p.Gly1328=)
c.498-5815T>G
c.1294-5815T>G (n.1294-5815T>G)
c.1585-1458T>G (n.1585-1458T>G)
21g.45504427A>GCA512687115COL18A1,SLC19A1c.3279A>G (p.Gly1093=)
c.2739A>G (p.Gly913=)
c.780A>G (p.Gly260=)
c.3984A>G (p.Gly1328=)
c.498-5815T>C
c.1294-5815T>C (n.1294-5815T>C)
c.1585-1458T>C (n.1585-1458T>C)
21g.45504427A>TCA512687116COL18A1,SLC19A1c.3279A>T (p.Gly1093=)
c.2739A>T (p.Gly913=)
c.780A>T (p.Gly260=)
c.3984A>T (p.Gly1328=)
c.498-5815T>A
c.1294-5815T>A (n.1294-5815T>A)
c.1585-1458T>A (n.1585-1458T>A)
21g.45504428G>ACA321921210COL18A1,SLC19A1c.3280G>A (p.Asp1094Asn)
c.2740G>A (p.Asp914Asn)
c.781G>A (p.Asp261Asn)
c.3985G>A (p.Asp1329Asn)
c.498-5816C>T
c.1294-5816C>T (n.1294-5816C>T)
c.1585-1459C>T (n.1585-1459C>T)
 dbSNP gnomAD v2 gnomAD v4
21g.45504428G>CCA410499116COL18A1,SLC19A1c.3280G>C (p.Asp1094His)
c.2740G>C (p.Asp914His)
c.781G>C (p.Asp261His)
c.3985G>C (p.Asp1329His)
c.498-5816C>G
c.1294-5816C>G (n.1294-5816C>G)
c.1585-1459C>G (n.1585-1459C>G)
21g.45504428G=CA2392190665COL18A1,SLC19A1c.3280G= (p.Asp1094=)
c.2740G= (p.Asp914=)
c.781G= (p.Asp261=)
c.3985G= (p.Asp1329=)
c.498-5816C=
c.1294-5816C= (n.1294-5816C=)
c.1585-1459C= (n.1585-1459C=)
21g.45504428G>TCA410499115COL18A1,SLC19A1c.3280G>T (p.Asp1094Tyr)
c.2740G>T (p.Asp914Tyr)
c.781G>T (p.Asp261Tyr)
c.3985G>T (p.Asp1329Tyr)
c.498-5816C>A
c.1294-5816C>A (n.1294-5816C>A)
c.1585-1459C>A (n.1585-1459C>A)
 COSMIC COSMIC
21g.45504429A>CCA410499117COL18A1,SLC19A1c.3281A>C (p.Asp1094Ala)
c.2741A>C (p.Asp914Ala)
c.782A>C (p.Asp261Ala)
c.3986A>C (p.Asp1329Ala)
c.498-5817T>G
c.1294-5817T>G (n.1294-5817T>G)
c.1585-1460T>G (n.1585-1460T>G)
 dbSNP
21g.45504429A>GCA410499119COL18A1,SLC19A1c.3281A>G (p.Asp1094Gly)
c.2741A>G (p.Asp914Gly)
c.782A>G (p.Asp261Gly)
c.3986A>G (p.Asp1329Gly)
c.498-5817T>C
c.1294-5817T>C (n.1294-5817T>C)
c.1585-1460T>C (n.1585-1460T>C)
 gnomAD v4
21g.45504429A>TCA410499118COL18A1,SLC19A1c.3281A>T (p.Asp1094Val)
c.2741A>T (p.Asp914Val)
c.782A>T (p.Asp261Val)
c.3986A>T (p.Asp1329Val)
c.498-5817T>A
c.1294-5817T>A (n.1294-5817T>A)
c.1585-1460T>A (n.1585-1460T>A)
21g.45504430C>ACA410499120COL18A1,SLC19A1c.3282C>A (p.Asp1094Glu)
c.2742C>A (p.Asp914Glu)
c.783C>A (p.Asp261Glu)
c.3987C>A (p.Asp1329Glu)
c.498-5818G>T
c.1294-5818G>T (n.1294-5818G>T)
c.1585-1461G>T (n.1585-1461G>T)
 gnomAD v4
21g.45504430C>GCA410499121COL18A1,SLC19A1c.3282C>G (p.Asp1094Glu)
c.2742C>G (p.Asp914Glu)
c.783C>G (p.Asp261Glu)
c.3987C>G (p.Asp1329Glu)
c.498-5818G>C
c.1294-5818G>C (n.1294-5818G>C)
c.1585-1461G>C (n.1585-1461G>C)
21g.45504430C>TCA512687118COL18A1,SLC19A1c.3282C>T (p.Asp1094=)
c.2742C>T (p.Asp914=)
c.783C>T (p.Asp261=)
c.3987C>T (p.Asp1329=)
c.498-5818G>A
c.1294-5818G>A (n.1294-5818G>A)
c.1585-1461G>A (n.1585-1461G>A)
21g.45504431C>ACA512687119COL18A1,SLC19A1c.3283C>A (p.Arg1095=)
c.2743C>A (p.Arg915=)
c.784C>A (p.Arg262=)
c.3988C>A (p.Arg1330=)
c.498-5819G>T
c.1294-5819G>T (n.1294-5819G>T)
c.1585-1462G>T (n.1585-1462G>T)
21g.45504431C=CA2392190666COL18A1,SLC19A1c.3283C= (p.Arg1095=)
c.2743C= (p.Arg915=)
c.784C= (p.Arg262=)
c.3988C= (p.Arg1330=)
c.498-5819G=
c.1294-5819G= (n.1294-5819G=)
c.1585-1462G= (n.1585-1462G=)
21g.45504431C>GCA410499122COL18A1,SLC19A1c.3283C>G (p.Arg1095Gly)
c.2743C>G (p.Arg915Gly)
c.784C>G (p.Arg262Gly)
c.3988C>G (p.Arg1330Gly)
c.498-5819G>C
c.1294-5819G>C (n.1294-5819G>C)
c.1585-1462G>C (n.1585-1462G>C)
21g.45504431C>TCA236429COL18A1,SLC19A1c.3283C>T (p.Arg1095Ter)
c.2743C>T (p.Arg915Ter)
c.784C>T (p.Arg262Ter)
c.3988C>T (p.Arg1330Ter)
c.498-5819G>A
c.1294-5819G>A (n.1294-5819G>A)
c.1585-1462G>A (n.1585-1462G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504432G>ACA10067444COL18A1,SLC19A1c.3284G>A (p.Arg1095Gln)
c.2744G>A (p.Arg915Gln)
c.785G>A (p.Arg262Gln)
c.3989G>A (p.Arg1330Gln)
c.498-5820C>T
c.1294-5820C>T (n.1294-5820C>T)
c.1585-1463C>T (n.1585-1463C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504432G>CCA410499123COL18A1,SLC19A1c.3284G>C (p.Arg1095Pro)
c.2744G>C (p.Arg915Pro)
c.785G>C (p.Arg262Pro)
c.3989G>C (p.Arg1330Pro)
c.498-5820C>G
c.1294-5820C>G (n.1294-5820C>G)
c.1585-1463C>G (n.1585-1463C>G)
 gnomAD v4
21g.45504432G=CA2392190667COL18A1,SLC19A1c.3284G= (p.Arg1095=)
c.2744G= (p.Arg915=)
c.785G= (p.Arg262=)
c.3989G= (p.Arg1330=)
c.498-5820C=
c.1294-5820C= (n.1294-5820C=)
c.1585-1463C= (n.1585-1463C=)
21g.45504432G>TCA410499124COL18A1,SLC19A1c.3284G>T (p.Arg1095Leu)
c.2744G>T (p.Arg915Leu)
c.785G>T (p.Arg262Leu)
c.3989G>T (p.Arg1330Leu)
c.498-5820C>A
c.1294-5820C>A (n.1294-5820C>A)
c.1585-1463C>A (n.1585-1463C>A)
21g.45504433A>CCA512687120COL18A1,SLC19A1c.3285A>C (p.Arg1095=)
c.2745A>C (p.Arg915=)
c.786A>C (p.Arg262=)
c.3990A>C (p.Arg1330=)
c.498-5821T>G
c.1294-5821T>G (n.1294-5821T>G)
c.1585-1464T>G (n.1585-1464T>G)
21g.45504433A>GCA512687121COL18A1,SLC19A1c.3285A>G (p.Arg1095=)
c.2745A>G (p.Arg915=)
c.786A>G (p.Arg262=)
c.3990A>G (p.Arg1330=)
c.498-5821T>C
c.1294-5821T>C (n.1294-5821T>C)
c.1585-1464T>C (n.1585-1464T>C)
21g.45504433A>TCA512687122COL18A1,SLC19A1c.3285A>T (p.Arg1095=)
c.2745A>T (p.Arg915=)
c.786A>T (p.Arg262=)
c.3990A>T (p.Arg1330=)
c.498-5821T>A
c.1294-5821T>A (n.1294-5821T>A)
c.1585-1464T>A (n.1585-1464T>A)
21g.45504434G>ACA410499125COL18A1,SLC19A1c.3286G>A (p.Gly1096Ser)
c.2746G>A (p.Gly916Ser)
c.787G>A (p.Gly263Ser)
c.3991G>A (p.Gly1331Ser)
c.498-5822C>T
c.1294-5822C>T (n.1294-5822C>T)
c.1585-1465C>T (n.1585-1465C>T)
21g.45504434G>CCA410499126COL18A1,SLC19A1c.3286G>C (p.Gly1096Arg)
c.2746G>C (p.Gly916Arg)
c.787G>C (p.Gly263Arg)
c.3991G>C (p.Gly1331Arg)
c.498-5822C>G
c.1294-5822C>G (n.1294-5822C>G)
c.1585-1465C>G (n.1585-1465C>G)
21g.45504434G>TCA410499127COL18A1,SLC19A1c.3286G>T (p.Gly1096Cys)
c.2746G>T (p.Gly916Cys)
c.787G>T (p.Gly263Cys)
c.3991G>T (p.Gly1331Cys)
c.498-5822C>A
c.1294-5822C>A (n.1294-5822C>A)
c.1585-1465C>A (n.1585-1465C>A)
21g.45504435G>ACA410499128COL18A1,SLC19A1c.3287G>A (p.Gly1096Asp)
c.2747G>A (p.Gly916Asp)
c.788G>A (p.Gly263Asp)
c.3992G>A (p.Gly1331Asp)
c.498-5823C>T
c.1294-5823C>T (n.1294-5823C>T)
c.1585-1466C>T (n.1585-1466C>T)
 ClinVar dbSNP
21g.45504435G>CCA410499129COL18A1,SLC19A1c.3287G>C (p.Gly1096Ala)
c.2747G>C (p.Gly916Ala)
c.788G>C (p.Gly263Ala)
c.3992G>C (p.Gly1331Ala)
c.498-5823C>G
c.1294-5823C>G (n.1294-5823C>G)
c.1585-1466C>G (n.1585-1466C>G)
21g.45504435G=CA2392190668COL18A1,SLC19A1c.3287G= (p.Gly1096=)
c.2747G= (p.Gly916=)
c.788G= (p.Gly263=)
c.3992G= (p.Gly1331=)
c.498-5823C=
c.1294-5823C= (n.1294-5823C=)
c.1585-1466C= (n.1585-1466C=)
21g.45504435G>TCA410499130COL18A1,SLC19A1c.3287G>T (p.Gly1096Val)
c.2747G>T (p.Gly916Val)
c.788G>T (p.Gly263Val)
c.3992G>T (p.Gly1331Val)
c.498-5823C>A
c.1294-5823C>A (n.1294-5823C>A)
c.1585-1466C>A (n.1585-1466C>A)
21g.45504436T>ACA512687124COL18A1,SLC19A1c.3288T>A (p.Gly1096=)
c.2748T>A (p.Gly916=)
c.789T>A (p.Gly263=)
c.3993T>A (p.Gly1331=)
c.498-5824A>T
c.1294-5824A>T (n.1294-5824A>T)
c.1585-1467A>T (n.1585-1467A>T)
21g.45504436T>CCA10067445COL18A1,SLC19A1c.3288T>C (p.Gly1096=)
c.2748T>C (p.Gly916=)
c.789T>C (p.Gly263=)
c.3993T>C (p.Gly1331=)
c.498-5824A>G
c.1294-5824A>G (n.1294-5824A>G)
c.1585-1467A>G (n.1585-1467A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45504436T>GCA512687123COL18A1,SLC19A1c.3288T>G (p.Gly1096=)
c.2748T>G (p.Gly916=)
c.789T>G (p.Gly263=)
c.3993T>G (p.Gly1331=)
c.498-5824A>C
c.1294-5824A>C (n.1294-5824A>C)
c.1585-1467A>C (n.1585-1467A>C)
21g.45504436T=CA2392190669COL18A1,SLC19A1c.3288T= (p.Gly1096=)
c.2748T= (p.Gly916=)
c.789T= (p.Gly263=)
c.3993T= (p.Gly1331=)
c.498-5824A=
c.1294-5824A= (n.1294-5824A=)
c.1585-1467A= (n.1585-1467A=)
21g.45504437G>ACA410499131COL18A1,SLC19A1c.3289G>A (p.Asp1097Asn)
c.2749G>A (p.Asp917Asn)
c.790G>A (p.Asp264Asn)
c.3994G>A (p.Asp1332Asn)
c.498-5825C>T
c.1294-5825C>T (n.1294-5825C>T)
c.1585-1468C>T (n.1585-1468C>T)
 ClinVar gnomAD v4
21g.45504437G>CCA410499132COL18A1,SLC19A1c.3289G>C (p.Asp1097His)
c.2749G>C (p.Asp917His)
c.790G>C (p.Asp264His)
c.3994G>C (p.Asp1332His)
c.498-5825C>G
c.1294-5825C>G (n.1294-5825C>G)
c.1585-1468C>G (n.1585-1468C>G)
 dbSNP gnomAD v2 gnomAD v4
21g.45504437G=CA2392190670COL18A1,SLC19A1c.3289G= (p.Asp1097=)
c.2749G= (p.Asp917=)
c.790G= (p.Asp264=)
c.3994G= (p.Asp1332=)
c.498-5825C=
c.1294-5825C= (n.1294-5825C=)
c.1585-1468C= (n.1585-1468C=)
21g.45504437G>TCA410499133COL18A1,SLC19A1c.3289G>T (p.Asp1097Tyr)
c.2749G>T (p.Asp917Tyr)
c.790G>T (p.Asp264Tyr)
c.3994G>T (p.Asp1332Tyr)
c.498-5825C>A
c.1294-5825C>A (n.1294-5825C>A)
c.1585-1468C>A (n.1585-1468C>A)
21g.45504438A>CCA410499134COL18A1,SLC19A1c.3290A>C (p.Asp1097Ala)
c.2750A>C (p.Asp917Ala)
c.791A>C (p.Asp264Ala)
c.3995A>C (p.Asp1332Ala)
c.498-5826T>G
c.1294-5826T>G (n.1294-5826T>G)
c.1585-1469T>G (n.1585-1469T>G)
21g.45504438A>GCA410499135COL18A1,SLC19A1c.3290A>G (p.Asp1097Gly)
c.2750A>G (p.Asp917Gly)
c.791A>G (p.Asp264Gly)
c.3995A>G (p.Asp1332Gly)
c.498-5826T>C
c.1294-5826T>C (n.1294-5826T>C)
c.1585-1469T>C (n.1585-1469T>C)
21g.45504438A>TCA410499136COL18A1,SLC19A1c.3290A>T (p.Asp1097Val)
c.2750A>T (p.Asp917Val)
c.791A>T (p.Asp264Val)
c.3995A>T (p.Asp1332Val)
c.498-5826T>A
c.1294-5826T>A (n.1294-5826T>A)
c.1585-1469T>A (n.1585-1469T>A)
21g.45504439T>ACA410499137COL18A1,SLC19A1c.3291T>A (p.Asp1097Glu)
c.2751T>A (p.Asp917Glu)
c.792T>A (p.Asp264Glu)
c.3996T>A (p.Asp1332Glu)
c.498-5827A>T
c.1294-5827A>T (n.1294-5827A>T)
c.1585-1470A>T (n.1585-1470A>T)
21g.45504439T>CCA512687125COL18A1,SLC19A1c.3291T>C (p.Asp1097=)
c.2751T>C (p.Asp917=)
c.792T>C (p.Asp264=)
c.3996T>C (p.Asp1332=)
c.498-5827A>G
c.1294-5827A>G (n.1294-5827A>G)
c.1585-1470A>G (n.1585-1470A>G)
21g.45504439T>GCA410499138COL18A1,SLC19A1c.3291T>G (p.Asp1097Glu)
c.2751T>G (p.Asp917Glu)
c.792T>G (p.Asp264Glu)
c.3996T>G (p.Asp1332Glu)
c.498-5827A>C
c.1294-5827A>C (n.1294-5827A>C)
c.1585-1470A>C (n.1585-1470A>C)
21g.45504440G>ACA10067446COL18A1,SLC19A1c.3292G>A (p.Ala1098Thr)
c.2752G>A (p.Ala918Thr)
c.793G>A (p.Ala265Thr)
c.3997G>A (p.Ala1333Thr)
c.498-5828C>T
c.1294-5828C>T (n.1294-5828C>T)
c.1585-1471C>T (n.1585-1471C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.45504440G>CCA410499139COL18A1,SLC19A1c.3292G>C (p.Ala1098Pro)
c.2752G>C (p.Ala918Pro)
c.793G>C (p.Ala265Pro)
c.3997G>C (p.Ala1333Pro)
c.498-5828C>G
c.1294-5828C>G (n.1294-5828C>G)
c.1585-1471C>G (n.1585-1471C>G)
21g.45504440G=CA2392190671COL18A1,SLC19A1c.3292G= (p.Ala1098=)
c.2752G= (p.Ala918=)
c.793G= (p.Ala265=)
c.3997G= (p.Ala1333=)
c.498-5828C=
c.1294-5828C= (n.1294-5828C=)
c.1585-1471C= (n.1585-1471C=)
21g.45504440G>TCA10067447COL18A1,SLC19A1c.3292G>T (p.Ala1098Ser)
c.2752G>T (p.Ala918Ser)
c.793G>T (p.Ala265Ser)
c.3997G>T (p.Ala1333Ser)
c.498-5828C>A
c.1294-5828C>A (n.1294-5828C>A)
c.1585-1471C>A (n.1585-1471C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45504441C>ACA410499142COL18A1,SLC19A1c.3293C>A (p.Ala1098Glu)
c.2753C>A (p.Ala918Glu)
c.794C>A (p.Ala265Glu)
c.3998C>A (p.Ala1333Glu)
c.498-5829G>T
c.1294-5829G>T (n.1294-5829G>T)
c.1585-1472G>T (n.1585-1472G>T)
21g.45504441C=CA2392190672COL18A1,SLC19A1c.3293C= (p.Ala1098=)
c.2753C= (p.Ala918=)
c.794C= (p.Ala265=)
c.3998C= (p.Ala1333=)
c.498-5829G=
c.1294-5829G= (n.1294-5829G=)
c.1585-1472G= (n.1585-1472G=)
21g.45504441C>GCA410499141COL18A1,SLC19A1c.3293C>G (p.Ala1098Gly)
c.2753C>G (p.Ala918Gly)
c.794C>G (p.Ala265Gly)
c.3998C>G (p.Ala1333Gly)
c.498-5829G>C
c.1294-5829G>C (n.1294-5829G>C)
c.1585-1472G>C (n.1585-1472G>C)
21g.45504441C>TCA410499140COL18A1,SLC19A1c.3293C>T (p.Ala1098Val)
c.2753C>T (p.Ala918Val)
c.794C>T (p.Ala265Val)
c.3998C>T (p.Ala1333Val)
c.498-5829G>A
c.1294-5829G>A (n.1294-5829G>A)
c.1585-1472G>A (n.1585-1472G>A)
 ClinVar dbSNP gnomAD v4
21g.45504442A>CCA512687128COL18A1,SLC19A1c.3294A>C (p.Ala1098=)
c.2754A>C (p.Ala918=)
c.795A>C (p.Ala265=)
c.3999A>C (p.Ala1333=)
c.498-5830T>G
c.1294-5830T>G (n.1294-5830T>G)
c.1585-1473T>G (n.1585-1473T>G)
 ClinVar dbSNP
21g.45504442A>GCA512687127COL18A1,SLC19A1c.3294A>G (p.Ala1098=)
c.2754A>G (p.Ala918=)
c.795A>G (p.Ala265=)
c.3999A>G (p.Ala1333=)
c.498-5830T>C
c.1294-5830T>C (n.1294-5830T>C)
c.1585-1473T>C (n.1585-1473T>C)
 gnomAD v4
21g.45504442A>TCA512687126COL18A1,SLC19A1c.3294A>T (p.Ala1098=)
c.2754A>T (p.Ala918=)
c.795A>T (p.Ala265=)
c.3999A>T (p.Ala1333=)
c.498-5830T>A
c.1294-5830T>A (n.1294-5830T>A)
c.1585-1473T>A (n.1585-1473T>A)
21g.45504443G>ACA410499143COL18A1,SLC19A1c.3295G>A (p.Gly1099Arg)
c.2755G>A (p.Gly919Arg)
c.796G>A (p.Gly266Arg)
c.4000G>A (p.Gly1334Arg)
c.498-5831C>T
c.1294-5831C>T (n.1294-5831C>T)
c.1585-1474C>T (n.1585-1474C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45504443G>CCA410499144COL18A1,SLC19A1c.3295G>C (p.Gly1099Arg)
c.2755G>C (p.Gly919Arg)
c.796G>C (p.Gly266Arg)
c.4000G>C (p.Gly1334Arg)
c.498-5831C>G
c.1294-5831C>G (n.1294-5831C>G)
c.1585-1474C>G (n.1585-1474C>G)
 dbSNP gnomAD v2 gnomAD v4
21g.45504443G=CA2392190673COL18A1,SLC19A1c.3295G= (p.Gly1099=)
c.2755G= (p.Gly919=)
c.796G= (p.Gly266=)
c.4000G= (p.Gly1334=)
c.498-5831C=
c.1294-5831C= (n.1294-5831C=)
c.1585-1474C= (n.1585-1474C=)
21g.45504443G>TCA410499145COL18A1,SLC19A1c.3295G>T (p.Gly1099Ter)
c.2755G>T (p.Gly919Ter)
c.796G>T (p.Gly266Ter)
c.4000G>T (p.Gly1334Ter)
c.498-5831C>A
c.1294-5831C>A (n.1294-5831C>A)
c.1585-1474C>A (n.1585-1474C>A)
 dbSNP
21g.45504444G>ACA410499146COL18A1,SLC19A1c.3296G>A (p.Gly1099Glu)
c.2756G>A (p.Gly919Glu)
c.797G>A (p.Gly266Glu)
c.4001G>A (p.Gly1334Glu)
c.498-5832C>T
c.1294-5832C>T (n.1294-5832C>T)
c.1585-1475C>T (n.1585-1475C>T)
21g.45504444G>CCA410499147COL18A1,SLC19A1c.3296G>C (p.Gly1099Ala)
c.2756G>C (p.Gly919Ala)
c.797G>C (p.Gly266Ala)
c.4001G>C (p.Gly1334Ala)
c.498-5832C>G
c.1294-5832C>G (n.1294-5832C>G)
c.1585-1475C>G (n.1585-1475C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45504444G=CA2392190674COL18A1,SLC19A1c.3296G= (p.Gly1099=)
c.2756G= (p.Gly919=)
c.797G= (p.Gly266=)
c.4001G= (p.Gly1334=)
c.498-5832C=
c.1294-5832C= (n.1294-5832C=)
c.1585-1475C= (n.1585-1475C=)
21g.45504444G>TCA410499148COL18A1,SLC19A1c.3296G>T (p.Gly1099Val)
c.2756G>T (p.Gly919Val)
c.797G>T (p.Gly266Val)
c.4001G>T (p.Gly1334Val)
c.498-5832C>A
c.1294-5832C>A (n.1294-5832C>A)
c.1585-1475C>A (n.1585-1475C>A)
21g.45504445A=CA2392190675COL18A1,SLC19A1c.3297A= (p.Gly1099=)
c.2757A= (p.Gly919=)
c.798A= (p.Gly266=)
c.4002A= (p.Gly1334=)
c.498-5833T=
c.1294-5833T= (n.1294-5833T=)
c.1585-1476T= (n.1585-1476T=)
21g.45504445A>CCA512687129COL18A1,SLC19A1c.3297A>C (p.Gly1099=)
c.2757A>C (p.Gly919=)
c.798A>C (p.Gly266=)
c.4002A>C (p.Gly1334=)
c.498-5833T>G
c.1294-5833T>G (n.1294-5833T>G)
c.1585-1476T>G (n.1585-1476T>G)
 ClinVar dbSNP
21g.45504445A>GCA512687130COL18A1,SLC19A1c.3297A>G (p.Gly1099=)
c.2757A>G (p.Gly919=)
c.798A>G (p.Gly266=)
c.4002A>G (p.Gly1334=)
c.498-5833T>C
c.1294-5833T>C (n.1294-5833T>C)
c.1585-1476T>C (n.1585-1476T>C)
 ClinVar
21g.45504445A>TCA512687131COL18A1,SLC19A1c.3297A>T (p.Gly1099=)
c.2757A>T (p.Gly919=)
c.798A>T (p.Gly266=)
c.4002A>T (p.Gly1334=)
c.498-5833T>A
c.1294-5833T>A (n.1294-5833T>A)
c.1585-1476T>A (n.1585-1476T>A)
21g.45504446C>ACA410499151COL18A1,SLC19A1c.3298C>A (p.Gln1100Lys)
c.2758C>A (p.Gln920Lys)
c.799C>A (p.Gln267Lys)
c.4003C>A (p.Gln1335Lys)
c.498-5834G>T
c.1294-5834G>T (n.1294-5834G>T)
c.1585-1477G>T (n.1585-1477G>T)
 gnomAD v4
21g.45504446C=CA2392190676COL18A1,SLC19A1c.3298C= (p.Gln1100=)
c.2758C= (p.Gln920=)
c.799C= (p.Gln267=)
c.4003C= (p.Gln1335=)
c.498-5834G=
c.1294-5834G= (n.1294-5834G=)
c.1585-1477G= (n.1585-1477G=)
21g.45504446C>GCA410499149COL18A1,SLC19A1c.3298C>G (p.Gln1100Glu)
c.2758C>G (p.Gln920Glu)
c.799C>G (p.Gln267Glu)
c.4003C>G (p.Gln1335Glu)
c.498-5834G>C
c.1294-5834G>C (n.1294-5834G>C)
c.1585-1477G>C (n.1585-1477G>C)
21g.45504446C>TCA410499150COL18A1,SLC19A1c.3298C>T (p.Gln1100Ter)
c.2758C>T (p.Gln920Ter)
c.799C>T (p.Gln267Ter)
c.4003C>T (p.Gln1335Ter)
c.498-5834G>A
c.1294-5834G>A (n.1294-5834G>A)
c.1585-1477G>A (n.1585-1477G>A)
 dbSNP gnomAD v4
21g.45504447A>CCA410499152COL18A1,SLC19A1c.3299A>C (p.Gln1100Pro)
c.2759A>C (p.Gln920Pro)
c.800A>C (p.Gln267Pro)
c.4004A>C (p.Gln1335Pro)
c.498-5835T>G
c.1294-5835T>G (n.1294-5835T>G)
c.1585-1478T>G (n.1585-1478T>G)
21g.45504447A>GCA410499153COL18A1,SLC19A1c.3299A>G (p.Gln1100Arg)
c.2759A>G (p.Gln920Arg)
c.800A>G (p.Gln267Arg)
c.4004A>G (p.Gln1335Arg)
c.498-5835T>C
c.1294-5835T>C (n.1294-5835T>C)
c.1585-1478T>C (n.1585-1478T>C)
21g.45504447A>TCA410499154COL18A1,SLC19A1c.3299A>T (p.Gln1100Leu)
c.2759A>T (p.Gln920Leu)
c.800A>T (p.Gln267Leu)
c.4004A>T (p.Gln1335Leu)
c.498-5835T>A
c.1294-5835T>A (n.1294-5835T>A)
c.1585-1478T>A (n.1585-1478T>A)
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

Number of alleles fetched