Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.45510094T>ACA410501505COL18A1,SLC19A1c.4066T>A (p.Ser1356Thr)
c.3526T>A (p.Ser1176Thr)
c.1570T>A (p.Ser524Thr)
c.4771T>A (p.Ser1591Thr)
c.498-11482A>T
c.480T>A
n.1852T>A
c.1294-11482A>T (n.1294-11482A>T)
c.4057T>A (p.Ser1353Thr)
c.4762T>A (p.Ser1588Thr)
c.3517T>A (p.Ser1173Thr)
c.1585-7125A>T (n.1585-7125A>T)
 gnomAD v4
21g.45510094T>CCA410501506COL18A1,SLC19A1c.4066T>C (p.Ser1356Pro)
c.3526T>C (p.Ser1176Pro)
c.1570T>C (p.Ser524Pro)
c.4771T>C (p.Ser1591Pro)
c.498-11482A>G
c.480T>C
n.1852T>C
c.1294-11482A>G (n.1294-11482A>G)
c.4057T>C (p.Ser1353Pro)
c.4762T>C (p.Ser1588Pro)
c.3517T>C (p.Ser1173Pro)
c.1585-7125A>G (n.1585-7125A>G)
21g.45510094T>GCA410501507COL18A1,SLC19A1c.4066T>G (p.Ser1356Ala)
c.3526T>G (p.Ser1176Ala)
c.1570T>G (p.Ser524Ala)
c.4771T>G (p.Ser1591Ala)
c.498-11482A>C
c.480T>G
n.1852T>G
c.1294-11482A>C (n.1294-11482A>C)
c.4057T>G (p.Ser1353Ala)
c.4762T>G (p.Ser1588Ala)
c.3517T>G (p.Ser1173Ala)
c.1585-7125A>C (n.1585-7125A>C)
 gnomAD v4
21g.45510095C>ACA410501508COL18A1,SLC19A1c.4067C>A (p.Ser1356Ter)
c.3527C>A (p.Ser1176Ter)
c.1571C>A (p.Ser524Ter)
c.4772C>A (p.Ser1591Ter)
c.498-11483G>T
c.481C>A
n.1853C>A
c.1294-11483G>T (n.1294-11483G>T)
c.4058C>A (p.Ser1353Ter)
c.4763C>A (p.Ser1588Ter)
c.3518C>A (p.Ser1173Ter)
c.1585-7126G>T (n.1585-7126G>T)
 gnomAD v4
21g.45510095C>GCA410501509COL18A1,SLC19A1c.4067C>G (p.Ser1356Ter)
c.3527C>G (p.Ser1176Ter)
c.1571C>G (p.Ser524Ter)
c.4772C>G (p.Ser1591Ter)
c.498-11483G>C
c.481C>G
n.1853C>G
c.1294-11483G>C (n.1294-11483G>C)
c.4058C>G (p.Ser1353Ter)
c.4763C>G (p.Ser1588Ter)
c.3518C>G (p.Ser1173Ter)
c.1585-7126G>C (n.1585-7126G>C)
21g.45510095C>TCA410501510COL18A1,SLC19A1c.4067C>T (p.Ser1356Leu)
c.3527C>T (p.Ser1176Leu)
c.1571C>T (p.Ser524Leu)
c.4772C>T (p.Ser1591Leu)
c.498-11483G>A
c.481C>T
n.1853C>T
c.1294-11483G>A (n.1294-11483G>A)
c.4058C>T (p.Ser1353Leu)
c.4763C>T (p.Ser1588Leu)
c.3518C>T (p.Ser1173Leu)
c.1585-7126G>A (n.1585-7126G>A)
 gnomAD v4 COSMIC COSMIC COSMIC
21g.45510095_45510096delinsCACA2392194959COL18A1,SLC19A1c.4067_4068delinsCA (p.Ser1356=)
c.3527_3528delinsCA (p.Ser1176=)
c.1571_1572delinsCA (p.Ser524=)
c.4772_4773delinsCA (p.Ser1591=)
c.498-11484_498-11483delinsTG
c.481_482delinsCA
n.1853_1854delinsCA
c.1294-11484_1294-11483delinsTG (n.1294-11484_1294-11483delinsTG)
c.4058_4059delinsCA (p.Ser1353=)
c.4763_4764delinsCA (p.Ser1588=)
c.3518_3519delinsCA (p.Ser1173=)
c.1585-7127_1585-7126delinsTG (n.1585-7127_1585-7126delinsTG)
21g.45510096delCA10067941COL18A1,SLC19A1c.4068del (p.Gly1357AlafsTer?)
c.3528del (p.Gly1177AlafsTer?)
c.1572del (p.Gly525AlafsTer?)
c.4773del (p.Gly1592AlafsTer?)
c.498-11484del
c.482del
n.1854del
c.1294-11484del (n.1294-11484del)
c.4059del (p.Gly1354AlafsTer?)
c.4764del (p.Gly1589AlafsTer?)
c.3519del (p.Gly1174AlafsTer?)
c.1585-7127del (n.1585-7127del)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45510096A=CA2392194960COL18A1,SLC19A1c.4068A= (p.Ser1356=)
c.3528A= (p.Ser1176=)
c.1572A= (p.Ser524=)
c.4773A= (p.Ser1591=)
c.498-11484T=
c.482A=
n.1854A=
c.1294-11484T= (n.1294-11484T=)
c.4059A= (p.Ser1353=)
c.4764A= (p.Ser1588=)
c.3519A= (p.Ser1173=)
c.1585-7127T= (n.1585-7127T=)
21g.45510096A>CCA513168456COL18A1,SLC19A1c.4068A>C (p.Ser1356=)
c.3528A>C (p.Ser1176=)
c.1572A>C (p.Ser524=)
c.4773A>C (p.Ser1591=)
c.498-11484T>G
c.482A>C
n.1854A>C
c.1294-11484T>G (n.1294-11484T>G)
c.4059A>C (p.Ser1353=)
c.4764A>C (p.Ser1588=)
c.3519A>C (p.Ser1173=)
c.1585-7127T>G (n.1585-7127T>G)
21g.45510096A>GCA10067942COL18A1,SLC19A1c.4068A>G (p.Ser1356=)
c.3528A>G (p.Ser1176=)
c.1572A>G (p.Ser524=)
c.4773A>G (p.Ser1591=)
c.498-11484T>C
c.482A>G
n.1854A>G
c.1294-11484T>C (n.1294-11484T>C)
c.4059A>G (p.Ser1353=)
c.4764A>G (p.Ser1588=)
c.3519A>G (p.Ser1173=)
c.1585-7127T>C (n.1585-7127T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45510096A>TCA513168460COL18A1,SLC19A1c.4068A>T (p.Ser1356=)
c.3528A>T (p.Ser1176=)
c.1572A>T (p.Ser524=)
c.4773A>T (p.Ser1591=)
c.498-11484T>A
c.482A>T
n.1854A>T
c.1294-11484T>A (n.1294-11484T>A)
c.4059A>T (p.Ser1353=)
c.4764A>T (p.Ser1588=)
c.3519A>T (p.Ser1173=)
c.1585-7127T>A (n.1585-7127T>A)
21g.45510097G>ACA410501511COL18A1,SLC19A1c.4069G>A (p.Gly1357Ser)
c.3529G>A (p.Gly1177Ser)
c.1573G>A (p.Gly525Ser)
c.4774G>A (p.Gly1592Ser)
c.498-11485C>T
c.483G>A
n.1855G>A
c.1294-11485C>T (n.1294-11485C>T)
c.4060G>A (p.Gly1354Ser)
c.4765G>A (p.Gly1589Ser)
c.3520G>A (p.Gly1174Ser)
c.1585-7128C>T (n.1585-7128C>T)
 gnomAD v4
21g.45510097G>CCA410501512COL18A1,SLC19A1c.4069G>C (p.Gly1357Arg)
c.3529G>C (p.Gly1177Arg)
c.1573G>C (p.Gly525Arg)
c.4774G>C (p.Gly1592Arg)
c.498-11485C>G
c.483G>C
n.1855G>C
c.1294-11485C>G (n.1294-11485C>G)
c.4060G>C (p.Gly1354Arg)
c.4765G>C (p.Gly1589Arg)
c.3520G>C (p.Gly1174Arg)
c.1585-7128C>G (n.1585-7128C>G)
21g.45510097G>TCA410501513COL18A1,SLC19A1c.4069G>T (p.Gly1357Cys)
c.3529G>T (p.Gly1177Cys)
c.1573G>T (p.Gly525Cys)
c.4774G>T (p.Gly1592Cys)
c.498-11485C>A
c.483G>T
n.1855G>T
c.1294-11485C>A (n.1294-11485C>A)
c.4060G>T (p.Gly1354Cys)
c.4765G>T (p.Gly1589Cys)
c.3520G>T (p.Gly1174Cys)
c.1585-7128C>A (n.1585-7128C>A)
 gnomAD v4
21g.45510098G>ACA410501514COL18A1,SLC19A1c.4070G>A (p.Gly1357Asp)
c.3530G>A (p.Gly1177Asp)
c.1574G>A (p.Gly525Asp)
c.4775G>A (p.Gly1592Asp)
c.498-11486C>T
c.484G>A
n.1856G>A
c.1294-11486C>T (n.1294-11486C>T)
c.4061G>A (p.Gly1354Asp)
c.4766G>A (p.Gly1589Asp)
c.3521G>A (p.Gly1174Asp)
c.1585-7129C>T (n.1585-7129C>T)
21g.45510098G>CCA410501515COL18A1,SLC19A1c.4070G>C (p.Gly1357Ala)
c.3530G>C (p.Gly1177Ala)
c.1574G>C (p.Gly525Ala)
c.4775G>C (p.Gly1592Ala)
c.498-11486C>G
c.484G>C
n.1856G>C
c.1294-11486C>G (n.1294-11486C>G)
c.4061G>C (p.Gly1354Ala)
c.4766G>C (p.Gly1589Ala)
c.3521G>C (p.Gly1174Ala)
c.1585-7129C>G (n.1585-7129C>G)
21g.45510098G>TCA410501516COL18A1,SLC19A1c.4070G>T (p.Gly1357Val)
c.3530G>T (p.Gly1177Val)
c.1574G>T (p.Gly525Val)
c.4775G>T (p.Gly1592Val)
c.498-11486C>A
c.484G>T
n.1856G>T
c.1294-11486C>A (n.1294-11486C>A)
c.4061G>T (p.Gly1354Val)
c.4766G>T (p.Gly1589Val)
c.3521G>T (p.Gly1174Val)
c.1585-7129C>A (n.1585-7129C>A)
 gnomAD v4
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

Number of alleles fetched