Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.45510099C>ACA513168467COL18A1,SLC19A1c.4071C>A (p.Gly1357=)
c.3531C>A (p.Gly1177=)
c.1575C>A (p.Gly525=)
c.4776C>A (p.Gly1592=)
c.498-11487G>T
c.485C>A
n.1857C>A
c.1294-11487G>T (n.1294-11487G>T)
c.4062C>A (p.Gly1354=)
c.4767C>A (p.Gly1589=)
c.3522C>A (p.Gly1174=)
c.1585-7130G>T (n.1585-7130G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45510099C=CA2392194962COL18A1,SLC19A1c.4071C= (p.Gly1357=)
c.3531C= (p.Gly1177=)
c.1575C= (p.Gly525=)
c.4776C= (p.Gly1592=)
c.498-11487G=
c.485C=
n.1857C=
c.1294-11487G= (n.1294-11487G=)
c.4062C= (p.Gly1354=)
c.4767C= (p.Gly1589=)
c.3522C= (p.Gly1174=)
c.1585-7130G= (n.1585-7130G=)
21g.45510099C>GCA513168468COL18A1,SLC19A1c.4071C>G (p.Gly1357=)
c.3531C>G (p.Gly1177=)
c.1575C>G (p.Gly525=)
c.4776C>G (p.Gly1592=)
c.498-11487G>C
c.485C>G
n.1857C>G
c.1294-11487G>C (n.1294-11487G>C)
c.4062C>G (p.Gly1354=)
c.4767C>G (p.Gly1589=)
c.3522C>G (p.Gly1174=)
c.1585-7130G>C (n.1585-7130G>C)
21g.45510099C>TCA10067943COL18A1,SLC19A1c.4071C>T (p.Gly1357=)
c.3531C>T (p.Gly1177=)
c.1575C>T (p.Gly525=)
c.4776C>T (p.Gly1592=)
c.498-11487G>A
c.485C>T
n.1857C>T
c.1294-11487G>A (n.1294-11487G>A)
c.4062C>T (p.Gly1354=)
c.4767C>T (p.Gly1589=)
c.3522C>T (p.Gly1174=)
c.1585-7130G>A (n.1585-7130G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45510099_45510101delinsCGGCA2392194961COL18A1,SLC19A1c.4071_4073delinsCGG (p.Gly1357=)
c.3531_3533delinsCGG (p.Gly1177=)
c.1575_1577delinsCGG (p.Gly525=)
c.4776_4778delinsCGG (p.Gly1592=)
c.498-11489_498-11487delinsCCG
c.485_487delinsCGG
n.1857_1859delinsCGG
c.1294-11489_1294-11487delinsCCG (n.1294-11489_1294-11487delinsCCG)
c.4062_4064delinsCGG (p.Gly1354=)
c.4767_4769delinsCGG (p.Gly1589=)
c.3522_3524delinsCGG (p.Gly1174=)
c.1585-7132_1585-7130delinsCCG (n.1585-7132_1585-7130delinsCCG)
21g.45510100G>ACA10067945COL18A1,SLC19A1c.4072G>A (p.Gly1358Ser)
c.3532G>A (p.Gly1178Ser)
c.1576G>A (p.Gly526Ser)
c.4777G>A (p.Gly1593Ser)
c.498-11488C>T
c.486G>A
n.1858G>A
c.1294-11488C>T (n.1294-11488C>T)
c.4063G>A (p.Gly1355Ser)
c.4768G>A (p.Gly1590Ser)
c.3523G>A (p.Gly1175Ser)
c.1585-7131C>T (n.1585-7131C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45510100G>CCA410501517COL18A1,SLC19A1c.4072G>C (p.Gly1358Arg)
c.3532G>C (p.Gly1178Arg)
c.1576G>C (p.Gly526Arg)
c.4777G>C (p.Gly1593Arg)
c.498-11488C>G
c.486G>C
n.1858G>C
c.1294-11488C>G (n.1294-11488C>G)
c.4063G>C (p.Gly1355Arg)
c.4768G>C (p.Gly1590Arg)
c.3523G>C (p.Gly1175Arg)
c.1585-7131C>G (n.1585-7131C>G)
21g.45510100G=CA2392194963COL18A1,SLC19A1c.4072G= (p.Gly1358=)
c.3532G= (p.Gly1178=)
c.1576G= (p.Gly526=)
c.4777G= (p.Gly1593=)
c.498-11488C=
c.486G=
n.1858G=
c.1294-11488C= (n.1294-11488C=)
c.4063G= (p.Gly1355=)
c.4768G= (p.Gly1590=)
c.3523G= (p.Gly1175=)
c.1585-7131C= (n.1585-7131C=)
21g.45510100G>TCA10067944COL18A1,SLC19A1c.4072G>T (p.Gly1358Cys)
c.3532G>T (p.Gly1178Cys)
c.1576G>T (p.Gly526Cys)
c.4777G>T (p.Gly1593Cys)
c.498-11488C>A
c.486G>T
n.1858G>T
c.1294-11488C>A (n.1294-11488C>A)
c.4063G>T (p.Gly1355Cys)
c.4768G>T (p.Gly1590Cys)
c.3523G>T (p.Gly1175Cys)
c.1585-7131C>A (n.1585-7131C>A)
 dbSNP ExAC gnomAD v4
21g.45510100_45510101delCA1139666921COL18A1,SLC19A1c.4072_4073del (p.Gly1358HisfsTer?)
c.3532_3533del (p.Gly1178HisfsTer?)
c.1576_1577del (p.Gly526HisfsTer?)
c.4777_4778del (p.Gly1593HisfsTer?)
c.498-11489_498-11488del
c.486_487del
n.1858_1859del
c.1294-11489_1294-11488del (n.1294-11489_1294-11488del)
c.4063_4064del (p.Gly1355HisfsTer?)
c.4768_4769del (p.Gly1590HisfsTer?)
c.3523_3524del (p.Gly1175HisfsTer?)
c.1585-7132_1585-7131del (n.1585-7132_1585-7131del)
 ClinVar dbSNP
21g.45510101delCA2739267724COL18A1,SLC19A1c.4073del (p.Gly1358AlafsTer?)
c.3533del (p.Gly1178AlafsTer?)
c.1577del (p.Gly526AlafsTer?)
c.4778del (p.Gly1593AlafsTer?)
c.498-11488del
c.487del
n.1859del
c.1294-11488del (n.1294-11488del)
c.4064del (p.Gly1355AlafsTer?)
c.4769del (p.Gly1590AlafsTer?)
c.3524del (p.Gly1175AlafsTer?)
c.1585-7131del (n.1585-7131del)
 ClinVar
21g.45510101G>ACA410501518COL18A1,SLC19A1c.4073G>A (p.Gly1358Asp)
c.3533G>A (p.Gly1178Asp)
c.1577G>A (p.Gly526Asp)
c.4778G>A (p.Gly1593Asp)
c.498-11489C>T
c.487G>A
n.1859G>A
c.1294-11489C>T (n.1294-11489C>T)
c.4064G>A (p.Gly1355Asp)
c.4769G>A (p.Gly1590Asp)
c.3524G>A (p.Gly1175Asp)
c.1585-7132C>T (n.1585-7132C>T)
 dbSNP gnomAD v2 gnomAD v4
21g.45510101G>CCA410501519COL18A1,SLC19A1c.4073G>C (p.Gly1358Ala)
c.3533G>C (p.Gly1178Ala)
c.1577G>C (p.Gly526Ala)
c.4778G>C (p.Gly1593Ala)
c.498-11489C>G
c.487G>C
n.1859G>C
c.1294-11489C>G (n.1294-11489C>G)
c.4064G>C (p.Gly1355Ala)
c.4769G>C (p.Gly1590Ala)
c.3524G>C (p.Gly1175Ala)
c.1585-7132C>G (n.1585-7132C>G)
21g.45510101G=CA2392194964COL18A1,SLC19A1c.4073G= (p.Gly1358=)
c.3533G= (p.Gly1178=)
c.1577G= (p.Gly526=)
c.4778G= (p.Gly1593=)
c.498-11489C=
c.487G=
n.1859G=
c.1294-11489C= (n.1294-11489C=)
c.4064G= (p.Gly1355=)
c.4769G= (p.Gly1590=)
c.3524G= (p.Gly1175=)
c.1585-7132C= (n.1585-7132C=)
21g.45510101G>TCA410501520COL18A1,SLC19A1c.4073G>T (p.Gly1358Val)
c.3533G>T (p.Gly1178Val)
c.1577G>T (p.Gly526Val)
c.4778G>T (p.Gly1593Val)
c.498-11489C>A
c.487G>T
n.1859G>T
c.1294-11489C>A (n.1294-11489C>A)
c.4064G>T (p.Gly1355Val)
c.4769G>T (p.Gly1590Val)
c.3524G>T (p.Gly1175Val)
c.1585-7132C>A (n.1585-7132C>A)
 gnomAD v4
21g.45510102C>ACA513168474COL18A1,SLC19A1c.4074C>A (p.Gly1358=)
c.3534C>A (p.Gly1178=)
c.1578C>A (p.Gly526=)
c.4779C>A (p.Gly1593=)
c.498-11490G>T
c.488C>A
n.1860C>A
c.1294-11490G>T (n.1294-11490G>T)
c.4065C>A (p.Gly1355=)
c.4770C>A (p.Gly1590=)
c.3525C>A (p.Gly1175=)
c.1585-7133G>T (n.1585-7133G>T)
 gnomAD v4
21g.45510102C>GCA513168475COL18A1,SLC19A1c.4074C>G (p.Gly1358=)
c.3534C>G (p.Gly1178=)
c.1578C>G (p.Gly526=)
c.4779C>G (p.Gly1593=)
c.498-11490G>C
c.488C>G
n.1860C>G
c.1294-11490G>C (n.1294-11490G>C)
c.4065C>G (p.Gly1355=)
c.4770C>G (p.Gly1590=)
c.3525C>G (p.Gly1175=)
c.1585-7133G>C (n.1585-7133G>C)
21g.45510102C>TCA513168476COL18A1,SLC19A1c.4074C>T (p.Gly1358=)
c.3534C>T (p.Gly1178=)
c.1578C>T (p.Gly526=)
c.4779C>T (p.Gly1593=)
c.498-11490G>A
c.488C>T
n.1860C>T
c.1294-11490G>A (n.1294-11490G>A)
c.4065C>T (p.Gly1355=)
c.4770C>T (p.Gly1590=)
c.3525C>T (p.Gly1175=)
c.1585-7133G>A (n.1585-7133G>A)
 gnomAD v4
21g.45510103A=CA2392194965COL18A1,SLC19A1c.4075A= (p.Met1359=)
c.3535A= (p.Met1179=)
c.1579A= (p.Met527=)
c.4780A= (p.Met1594=)
c.498-11491T=
c.489A=
n.1861A=
c.1294-11491T= (n.1294-11491T=)
c.4066A= (p.Met1356=)
c.4771A= (p.Met1591=)
c.3526A= (p.Met1176=)
c.1585-7134T= (n.1585-7134T=)
21g.45510103A>CCA410501521COL18A1,SLC19A1c.4075A>C (p.Met1359Leu)
c.3535A>C (p.Met1179Leu)
c.1579A>C (p.Met527Leu)
c.4780A>C (p.Met1594Leu)
c.498-11491T>G
c.489A>C
n.1861A>C
c.1294-11491T>G (n.1294-11491T>G)
c.4066A>C (p.Met1356Leu)
c.4771A>C (p.Met1591Leu)
c.3526A>C (p.Met1176Leu)
c.1585-7134T>G (n.1585-7134T>G)
21g.45510103A>GCA10067946COL18A1,SLC19A1c.4075A>G (p.Met1359Val)
c.3535A>G (p.Met1179Val)
c.1579A>G (p.Met527Val)
c.4780A>G (p.Met1594Val)
c.498-11491T>C
c.489A>G
n.1861A>G
c.1294-11491T>C (n.1294-11491T>C)
c.4066A>G (p.Met1356Val)
c.4771A>G (p.Met1591Val)
c.3526A>G (p.Met1176Val)
c.1585-7134T>C (n.1585-7134T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45510103A>TCA410501522COL18A1,SLC19A1c.4075A>T (p.Met1359Leu)
c.3535A>T (p.Met1179Leu)
c.1579A>T (p.Met527Leu)
c.4780A>T (p.Met1594Leu)
c.498-11491T>A
c.489A>T
n.1861A>T
c.1294-11491T>A (n.1294-11491T>A)
c.4066A>T (p.Met1356Leu)
c.4771A>T (p.Met1591Leu)
c.3526A>T (p.Met1176Leu)
c.1585-7134T>A (n.1585-7134T>A)
21g.45510104T>ACA410501523COL18A1,SLC19A1c.4076T>A (p.Met1359Lys)
c.3536T>A (p.Met1179Lys)
c.1580T>A (p.Met527Lys)
c.4781T>A (p.Met1594Lys)
c.498-11492A>T
c.490T>A
n.1862T>A
c.1294-11492A>T (n.1294-11492A>T)
c.4067T>A (p.Met1356Lys)
c.4772T>A (p.Met1591Lys)
c.3527T>A (p.Met1176Lys)
c.1585-7135A>T (n.1585-7135A>T)
21g.45510104T>CCA321923849COL18A1,SLC19A1c.4076T>C (p.Met1359Thr)
c.3536T>C (p.Met1179Thr)
c.1580T>C (p.Met527Thr)
c.4781T>C (p.Met1594Thr)
c.498-11492A>G
c.490T>C
n.1862T>C
c.1294-11492A>G (n.1294-11492A>G)
c.4067T>C (p.Met1356Thr)
c.4772T>C (p.Met1591Thr)
c.3527T>C (p.Met1176Thr)
c.1585-7135A>G (n.1585-7135A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45510104T>GCA410501524COL18A1,SLC19A1c.4076T>G (p.Met1359Arg)
c.3536T>G (p.Met1179Arg)
c.1580T>G (p.Met527Arg)
c.4781T>G (p.Met1594Arg)
c.498-11492A>C
c.490T>G
n.1862T>G
c.1294-11492A>C (n.1294-11492A>C)
c.4067T>G (p.Met1356Arg)
c.4772T>G (p.Met1591Arg)
c.3527T>G (p.Met1176Arg)
c.1585-7135A>C (n.1585-7135A>C)
 ClinVar dbSNP
21g.45510104T=CA2392194966COL18A1,SLC19A1c.4076T= (p.Met1359=)
c.3536T= (p.Met1179=)
c.1580T= (p.Met527=)
c.4781T= (p.Met1594=)
c.498-11492A=
c.490T=
n.1862T=
c.1294-11492A= (n.1294-11492A=)
c.4067T= (p.Met1356=)
c.4772T= (p.Met1591=)
c.3527T= (p.Met1176=)
c.1585-7135A= (n.1585-7135A=)
21g.45510104_45510115delinsTGCGGGGCATCCCA2392194967COL18A1,SLC19A1c.4076_4087delinsTGCGGGGCATCC (p.Met1359=)
c.3536_3547delinsTGCGGGGCATCC (p.Met1179=)
c.1580_1591delinsTGCGGGGCATCC (p.Met527=)
c.4781_4792delinsTGCGGGGCATCC (p.Met1594=)
c.498-11503_498-11492delinsGGATGCCCCGCA
c.490_501delinsTGCGGGGCATCC
n.1862_1873delinsTGCGGGGCATCC
c.1294-11503_1294-11492delinsGGATGCCCCGCA (n.1294-11503_1294-11492delinsGGATGCCCCGCA)
c.4067_4078delinsTGCGGGGCATCC (p.Met1356=)
c.4772_4783delinsTGCGGGGCATCC (p.Met1591=)
c.3527_3538delinsTGCGGGGCATCC (p.Met1176=)
c.1585-7146_1585-7135delinsGGATGCCCCGCA (n.1585-7146_1585-7135delinsGGATGCCCCGCA)
21g.45510105G>ACA410501525COL18A1,SLC19A1c.4077G>A (p.Met1359Ile)
c.3537G>A (p.Met1179Ile)
c.1581G>A (p.Met527Ile)
c.4782G>A (p.Met1594Ile)
c.498-11493C>T
c.491G>A
n.1863G>A
c.1294-11493C>T (n.1294-11493C>T)
c.4068G>A (p.Met1356Ile)
c.4773G>A (p.Met1591Ile)
c.3528G>A (p.Met1176Ile)
c.1585-7136C>T (n.1585-7136C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.45510105G>CCA410501526COL18A1,SLC19A1c.4077G>C (p.Met1359Ile)
c.3537G>C (p.Met1179Ile)
c.1581G>C (p.Met527Ile)
c.4782G>C (p.Met1594Ile)
c.498-11493C>G
c.491G>C
n.1863G>C
c.1294-11493C>G (n.1294-11493C>G)
c.4068G>C (p.Met1356Ile)
c.4773G>C (p.Met1591Ile)
c.3528G>C (p.Met1176Ile)
c.1585-7136C>G (n.1585-7136C>G)
21g.45510105G=CA2392194968COL18A1,SLC19A1c.4077G= (p.Met1359=)
c.3537G= (p.Met1179=)
c.1581G= (p.Met527=)
c.4782G= (p.Met1594=)
c.498-11493C=
c.491G=
n.1863G=
c.1294-11493C= (n.1294-11493C=)
c.4068G= (p.Met1356=)
c.4773G= (p.Met1591=)
c.3528G= (p.Met1176=)
c.1585-7136C= (n.1585-7136C=)
21g.45510105G>TCA10067947COL18A1,SLC19A1c.4077G>T (p.Met1359Ile)
c.3537G>T (p.Met1179Ile)
c.1581G>T (p.Met527Ile)
c.4782G>T (p.Met1594Ile)
c.498-11493C>A
c.491G>T
n.1863G>T
c.1294-11493C>A (n.1294-11493C>A)
c.4068G>T (p.Met1356Ile)
c.4773G>T (p.Met1591Ile)
c.3528G>T (p.Met1176Ile)
c.1585-7136C>A (n.1585-7136C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45510112_45510122dupCA638497187COL18A1,SLC19A1c.4084_4094dup (p.Asp1366SerfsTer?)
c.3544_3554dup (p.Asp1186SerfsTer?)
c.1588_1598dup (p.Asp534SerfsTer?)
c.4789_4799dup (p.Asp1601SerfsTer?)
c.498-11503_498-11493dup
c.498_508dup
n.1870_1880dup
c.1294-11503_1294-11493dup (n.1294-11503_1294-11493dup)
c.4075_4085dup (p.Asp1363SerfsTer?)
c.4780_4790dup (p.Asp1598SerfsTer?)
c.3535_3545dup (p.Asp1183SerfsTer?)
c.1585-7146_1585-7136dup (n.1585-7146_1585-7136dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45510112_45510122delCA513168481COL18A1,SLC19A1c.4084_4094del (p.Ile1362ArgfsTer?)
c.3544_3554del (p.Ile1182ArgfsTer?)
c.1588_1598del (p.Ile530ArgfsTer?)
c.4789_4799del (p.Ile1597ArgfsTer?)
c.498-11503_498-11493del
c.498_508del
n.1870_1880del
c.1294-11503_1294-11493del (n.1294-11503_1294-11493del)
c.4075_4085del (p.Ile1359ArgfsTer?)
c.4780_4790del (p.Ile1594ArgfsTer?)
c.3535_3545del (p.Ile1179ArgfsTer?)
c.1585-7146_1585-7136del (n.1585-7146_1585-7136del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.45510106delCA2818078872COL18A1,SLC19A1c.4078del (p.Arg1360GlyfsTer?)
c.3538del (p.Arg1180GlyfsTer?)
c.1582del (p.Arg528GlyfsTer?)
c.4783del (p.Arg1595GlyfsTer?)
c.498-11494del
c.492del
n.1864del
c.1294-11494del (n.1294-11494del)
c.4069del (p.Arg1357GlyfsTer?)
c.4774del (p.Arg1592GlyfsTer?)
c.3529del (p.Arg1177GlyfsTer?)
c.1585-7137del (n.1585-7137del)
21g.45510106C>ACA513168483COL18A1,SLC19A1c.4078C>A (p.Arg1360=)
c.3538C>A (p.Arg1180=)
c.1582C>A (p.Arg528=)
c.4783C>A (p.Arg1595=)
c.498-11494G>T
c.492C>A
n.1864C>A
c.1294-11494G>T (n.1294-11494G>T)
c.4069C>A (p.Arg1357=)
c.4774C>A (p.Arg1592=)
c.3529C>A (p.Arg1177=)
c.1585-7137G>T (n.1585-7137G>T)
 gnomAD v4
21g.45510106C=CA2392194969COL18A1,SLC19A1c.4078C= (p.Arg1360=)
c.3538C= (p.Arg1180=)
c.1582C= (p.Arg528=)
c.4783C= (p.Arg1595=)
c.498-11494G=
c.492C=
n.1864C=
c.1294-11494G= (n.1294-11494G=)
c.4069C= (p.Arg1357=)
c.4774C= (p.Arg1592=)
c.3529C= (p.Arg1177=)
c.1585-7137G= (n.1585-7137G=)
21g.45510106C>GCA410501527COL18A1,SLC19A1c.4078C>G (p.Arg1360Gly)
c.3538C>G (p.Arg1180Gly)
c.1582C>G (p.Arg528Gly)
c.4783C>G (p.Arg1595Gly)
c.498-11494G>C
c.492C>G
n.1864C>G
c.1294-11494G>C (n.1294-11494G>C)
c.4069C>G (p.Arg1357Gly)
c.4774C>G (p.Arg1592Gly)
c.3529C>G (p.Arg1177Gly)
c.1585-7137G>C (n.1585-7137G>C)
 dbSNP gnomAD v2 gnomAD v4
21g.45510106C>TCA10067948COL18A1,SLC19A1c.4078C>T (p.Arg1360Trp)
c.3538C>T (p.Arg1180Trp)
c.1582C>T (p.Arg528Trp)
c.4783C>T (p.Arg1595Trp)
c.498-11494G>A
c.492C>T
n.1864C>T
c.1294-11494G>A (n.1294-11494G>A)
c.4069C>T (p.Arg1357Trp)
c.4774C>T (p.Arg1592Trp)
c.3529C>T (p.Arg1177Trp)
c.1585-7137G>A (n.1585-7137G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
21g.45510107G>ACA10067949COL18A1,SLC19A1c.4079G>A (p.Arg1360Gln)
c.3539G>A (p.Arg1180Gln)
c.1583G>A (p.Arg528Gln)
c.4784G>A (p.Arg1595Gln)
c.498-11495C>T
c.493G>A
n.1865G>A
c.1294-11495C>T (n.1294-11495C>T)
c.4070G>A (p.Arg1357Gln)
c.4775G>A (p.Arg1592Gln)
c.3530G>A (p.Arg1177Gln)
c.1585-7138C>T (n.1585-7138C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45510107G>CCA410501528COL18A1,SLC19A1c.4079G>C (p.Arg1360Pro)
c.3539G>C (p.Arg1180Pro)
c.1583G>C (p.Arg528Pro)
c.4784G>C (p.Arg1595Pro)
c.498-11495C>G
c.493G>C
n.1865G>C
c.1294-11495C>G (n.1294-11495C>G)
c.4070G>C (p.Arg1357Pro)
c.4775G>C (p.Arg1592Pro)
c.3530G>C (p.Arg1177Pro)
c.1585-7138C>G (n.1585-7138C>G)
21g.45510107G=CA2392194970COL18A1,SLC19A1c.4079G= (p.Arg1360=)
c.3539G= (p.Arg1180=)
c.1583G= (p.Arg528=)
c.4784G= (p.Arg1595=)
c.498-11495C=
c.493G=
n.1865G=
c.1294-11495C= (n.1294-11495C=)
c.4070G= (p.Arg1357=)
c.4775G= (p.Arg1592=)
c.3530G= (p.Arg1177=)
c.1585-7138C= (n.1585-7138C=)
21g.45510107G>TCA410501529COL18A1,SLC19A1c.4079G>T (p.Arg1360Leu)
c.3539G>T (p.Arg1180Leu)
c.1583G>T (p.Arg528Leu)
c.4784G>T (p.Arg1595Leu)
c.498-11495C>A
c.493G>T
n.1865G>T
c.1294-11495C>A (n.1294-11495C>A)
c.4070G>T (p.Arg1357Leu)
c.4775G>T (p.Arg1592Leu)
c.3530G>T (p.Arg1177Leu)
c.1585-7138C>A (n.1585-7138C>A)
 gnomAD v4
21g.45510110delCA2654930941COL18A1,SLC19A1c.4082del (p.Gly1361AlafsTer?)
c.3542del (p.Gly1181AlafsTer?)
c.1586del (p.Gly529AlafsTer?)
c.4787del (p.Gly1596AlafsTer?)
c.498-11495del
c.496del
n.1868del
c.1294-11495del (n.1294-11495del)
c.4073del (p.Gly1358AlafsTer?)
c.4778del (p.Gly1593AlafsTer?)
c.3533del (p.Gly1178AlafsTer?)
c.1585-7138del (n.1585-7138del)
 gnomAD v4
21g.45510108G>ACA513168491COL18A1,SLC19A1c.4080G>A (p.Arg1360=)
c.3540G>A (p.Arg1180=)
c.1584G>A (p.Arg528=)
c.4785G>A (p.Arg1595=)
c.498-11496C>T
c.494G>A
n.1866G>A
c.1294-11496C>T (n.1294-11496C>T)
c.4071G>A (p.Arg1357=)
c.4776G>A (p.Arg1592=)
c.3531G>A (p.Arg1177=)
c.1585-7139C>T (n.1585-7139C>T)
 gnomAD v4
21g.45510108G>CCA513168489COL18A1,SLC19A1c.4080G>C (p.Arg1360=)
c.3540G>C (p.Arg1180=)
c.1584G>C (p.Arg528=)
c.4785G>C (p.Arg1595=)
c.498-11496C>G
c.494G>C
n.1866G>C
c.1294-11496C>G (n.1294-11496C>G)
c.4071G>C (p.Arg1357=)
c.4776G>C (p.Arg1592=)
c.3531G>C (p.Arg1177=)
c.1585-7139C>G (n.1585-7139C>G)
21g.45510108G>TCA513168487COL18A1,SLC19A1c.4080G>T (p.Arg1360=)
c.3540G>T (p.Arg1180=)
c.1584G>T (p.Arg528=)
c.4785G>T (p.Arg1595=)
c.498-11496C>A
c.494G>T
n.1866G>T
c.1294-11496C>A (n.1294-11496C>A)
c.4071G>T (p.Arg1357=)
c.4776G>T (p.Arg1592=)
c.3531G>T (p.Arg1177=)
c.1585-7139C>A (n.1585-7139C>A)
 gnomAD v4
21g.45510109G>ACA10067950COL18A1,SLC19A1c.4081G>A (p.Gly1361Ser)
c.3541G>A (p.Gly1181Ser)
c.1585G>A (p.Gly529Ser)
c.4786G>A (p.Gly1596Ser)
c.498-11497C>T
c.495G>A
n.1867G>A
c.1294-11497C>T (n.1294-11497C>T)
c.4072G>A (p.Gly1358Ser)
c.4777G>A (p.Gly1593Ser)
c.3532G>A (p.Gly1178Ser)
c.1585-7140C>T (n.1585-7140C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45510109G>CCA410501530COL18A1,SLC19A1c.4081G>C (p.Gly1361Arg)
c.3541G>C (p.Gly1181Arg)
c.1585G>C (p.Gly529Arg)
c.4786G>C (p.Gly1596Arg)
c.498-11497C>G
c.495G>C
n.1867G>C
c.1294-11497C>G (n.1294-11497C>G)
c.4072G>C (p.Gly1358Arg)
c.4777G>C (p.Gly1593Arg)
c.3532G>C (p.Gly1178Arg)
c.1585-7140C>G (n.1585-7140C>G)
21g.45510109G=CA2392194971COL18A1,SLC19A1c.4081G= (p.Gly1361=)
c.3541G= (p.Gly1181=)
c.1585G= (p.Gly529=)
c.4786G= (p.Gly1596=)
c.498-11497C=
c.495G=
n.1867G=
c.1294-11497C= (n.1294-11497C=)
c.4072G= (p.Gly1358=)
c.4777G= (p.Gly1593=)
c.3532G= (p.Gly1178=)
c.1585-7140C= (n.1585-7140C=)
21g.45510109G>TCA410501531COL18A1,SLC19A1c.4081G>T (p.Gly1361Cys)
c.3541G>T (p.Gly1181Cys)
c.1585G>T (p.Gly529Cys)
c.4786G>T (p.Gly1596Cys)
c.498-11497C>A
c.495G>T
n.1867G>T
c.1294-11497C>A (n.1294-11497C>A)
c.4072G>T (p.Gly1358Cys)
c.4777G>T (p.Gly1593Cys)
c.3532G>T (p.Gly1178Cys)
c.1585-7140C>A (n.1585-7140C>A)
 gnomAD v4

Number of alleles fetched