Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.45510073_45510093delCA2654930807COL18A1,SLC19A1c.4045_4065del (p.Val1349_Leu1355del)
c.3505_3525del (p.Val1169_Leu1175del)
c.1549_1569del (p.Val517_Leu523del)
c.4750_4770del (p.Val1584_Leu1590del)
c.498-11477_498-11457del
c.459_479del
n.1831_1851del
c.1294-11477_1294-11457del (n.1294-11477_1294-11457del)
c.4036_4056del (p.Val1346_Leu1352del)
c.4741_4761del (p.Val1581_Leu1587del)
c.3496_3516del (p.Val1166_Leu1172del)
c.1585-7120_1585-7100del (n.1585-7120_1585-7100del)
 gnomAD v4
21g.45510091delCA2654930867COL18A1,SLC19A1c.4063del (p.Leu1355CysfsTer?)
c.3523del (p.Leu1175CysfsTer?)
c.1567del (p.Leu523CysfsTer?)
c.4768del (p.Leu1590CysfsTer?)
c.498-11475del
c.477del
n.1849del
c.1294-11475del (n.1294-11475del)
c.4054del (p.Leu1352CysfsTer?)
c.4759del (p.Leu1587CysfsTer?)
c.3514del (p.Leu1172CysfsTer?)
c.1585-7118del (n.1585-7118del)
 gnomAD v4
21g.45510090_45510091delCA915952625COL18A1,SLC19A1c.4062_4063del (p.Leu1355ValfsTer?)
c.3522_3523del (p.Leu1175ValfsTer?)
c.1566_1567del (p.Leu523ValfsTer?)
c.4767_4768del (p.Leu1590ValfsTer?)
c.498-11476_498-11475del
c.476_477del
n.1848_1849del
c.1294-11476_1294-11475del (n.1294-11476_1294-11475del)
c.4053_4054del (p.Leu1352ValfsTer?)
c.4758_4759del (p.Leu1587ValfsTer?)
c.3513_3514del (p.Leu1172ValfsTer?)
c.1585-7119_1585-7118del (n.1585-7119_1585-7118del)
 ClinVar dbSNP
21g.45510090_45510092delCA2580098933COL18A1,SLC19A1c.4062_4064del (p.Leu1355del)
c.3522_3524del (p.Leu1175del)
c.1566_1568del (p.Leu523del)
c.4767_4769del (p.Leu1590del)
c.498-11480_498-11478del
c.476_478del
n.1848_1850del
c.1294-11480_1294-11478del (n.1294-11480_1294-11478del)
c.4053_4055del (p.Leu1352del)
c.4758_4760del (p.Leu1587del)
c.3513_3515del (p.Leu1172del)
c.1585-7123_1585-7121del (n.1585-7123_1585-7121del)
 ClinVar gnomAD v4
21g.45510090_45510092delinsCCTCA2392194955COL18A1,SLC19A1c.4062_4064delinsCCT (p.Pro1354=)
c.3522_3524delinsCCT (p.Pro1174=)
c.1566_1568delinsCCT (p.Pro522=)
c.4767_4769delinsCCT (p.Pro1589=)
c.498-11480_498-11478delinsAGG
c.476_478delinsCCT
n.1848_1850delinsCCT
c.1294-11480_1294-11478delinsAGG (n.1294-11480_1294-11478delinsAGG)
c.4053_4055delinsCCT (p.Pro1351=)
c.4758_4760delinsCCT (p.Pro1586=)
c.3513_3515delinsCCT (p.Pro1171=)
c.1585-7123_1585-7121delinsAGG (n.1585-7123_1585-7121delinsAGG)
21g.45510091C>ACA410501500COL18A1,SLC19A1c.4063C>A (p.Leu1355Met)
c.3523C>A (p.Leu1175Met)
c.1567C>A (p.Leu523Met)
c.4768C>A (p.Leu1590Met)
c.498-11479G>T
c.477C>A
n.1849C>A
c.1294-11479G>T (n.1294-11479G>T)
c.4054C>A (p.Leu1352Met)
c.4759C>A (p.Leu1587Met)
c.3514C>A (p.Leu1172Met)
c.1585-7122G>T (n.1585-7122G>T)
 gnomAD v4
21g.45510091C=CA2392194957COL18A1,SLC19A1c.4063C= (p.Leu1355=)
c.3523C= (p.Leu1175=)
c.1567C= (p.Leu523=)
c.4768C= (p.Leu1590=)
c.498-11479G=
c.477C=
n.1849C=
c.1294-11479G= (n.1294-11479G=)
c.4054C= (p.Leu1352=)
c.4759C= (p.Leu1587=)
c.3514C= (p.Leu1172=)
c.1585-7122G= (n.1585-7122G=)
21g.45510091C>GCA410501501COL18A1,SLC19A1c.4063C>G (p.Leu1355Val)
c.3523C>G (p.Leu1175Val)
c.1567C>G (p.Leu523Val)
c.4768C>G (p.Leu1590Val)
c.498-11479G>C
c.477C>G
n.1849C>G
c.1294-11479G>C (n.1294-11479G>C)
c.4054C>G (p.Leu1352Val)
c.4759C>G (p.Leu1587Val)
c.3514C>G (p.Leu1172Val)
c.1585-7122G>C (n.1585-7122G>C)
21g.45510091C>TCA513168443COL18A1,SLC19A1c.4063C>T (p.Leu1355=)
c.3523C>T (p.Leu1175=)
c.1567C>T (p.Leu523=)
c.4768C>T (p.Leu1590=)
c.498-11479G>A
c.477C>T
n.1849C>T
c.1294-11479G>A (n.1294-11479G>A)
c.4054C>T (p.Leu1352=)
c.4759C>T (p.Leu1587=)
c.3514C>T (p.Leu1172=)
c.1585-7122G>A (n.1585-7122G>A)
 dbSNP gnomAD v2 gnomAD v4
21g.45510091_45510092delCA144775COL18A1,SLC19A1c.4063_4064del (p.Leu1355ValfsTer?)
c.3523_3524del (p.Leu1175ValfsTer?)
c.1567_1568del (p.Leu523ValfsTer?)
c.4768_4769del (p.Leu1590ValfsTer?)
c.498-11480_498-11479del
c.477_478del
n.1849_1850del
c.1294-11480_1294-11479del (n.1294-11480_1294-11479del)
c.4054_4055del (p.Leu1352ValfsTer?)
c.4759_4760del (p.Leu1587ValfsTer?)
c.3514_3515del (p.Leu1172ValfsTer?)
c.1585-7123_1585-7122del (n.1585-7123_1585-7122del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45510092T>ACA410501502COL18A1,SLC19A1c.4064T>A (p.Leu1355Gln)
c.3524T>A (p.Leu1175Gln)
c.1568T>A (p.Leu523Gln)
c.4769T>A (p.Leu1590Gln)
c.498-11480A>T
c.478T>A
n.1850T>A
c.1294-11480A>T (n.1294-11480A>T)
c.4055T>A (p.Leu1352Gln)
c.4760T>A (p.Leu1587Gln)
c.3515T>A (p.Leu1172Gln)
c.1585-7123A>T (n.1585-7123A>T)
 gnomAD v4
21g.45510092T>CCA410501503COL18A1,SLC19A1c.4064T>C (p.Leu1355Pro)
c.3524T>C (p.Leu1175Pro)
c.1568T>C (p.Leu523Pro)
c.4769T>C (p.Leu1590Pro)
c.498-11480A>G
c.478T>C
n.1850T>C
c.1294-11480A>G (n.1294-11480A>G)
c.4055T>C (p.Leu1352Pro)
c.4760T>C (p.Leu1587Pro)
c.3515T>C (p.Leu1172Pro)
c.1585-7123A>G (n.1585-7123A>G)
 ClinVar dbSNP gnomAD v4
21g.45510092T>GCA410501504COL18A1,SLC19A1c.4064T>G (p.Leu1355Arg)
c.3524T>G (p.Leu1175Arg)
c.1568T>G (p.Leu523Arg)
c.4769T>G (p.Leu1590Arg)
c.498-11480A>C
c.478T>G
n.1850T>G
c.1294-11480A>C (n.1294-11480A>C)
c.4055T>G (p.Leu1352Arg)
c.4760T>G (p.Leu1587Arg)
c.3515T>G (p.Leu1172Arg)
c.1585-7123A>C (n.1585-7123A>C)
21g.45510092T=CA2392194958COL18A1,SLC19A1c.4064T= (p.Leu1355=)
c.3524T= (p.Leu1175=)
c.1568T= (p.Leu523=)
c.4769T= (p.Leu1590=)
c.498-11480A=
c.478T=
n.1850T=
c.1294-11480A= (n.1294-11480A=)
c.4055T= (p.Leu1352=)
c.4760T= (p.Leu1587=)
c.3515T= (p.Leu1172=)
c.1585-7123A= (n.1585-7123A=)
21g.45510093G>ACA513168449COL18A1,SLC19A1c.4065G>A (p.Leu1355=)
c.3525G>A (p.Leu1175=)
c.1569G>A (p.Leu523=)
c.4770G>A (p.Leu1590=)
c.498-11481C>T
c.479G>A
n.1851G>A
c.1294-11481C>T (n.1294-11481C>T)
c.4056G>A (p.Leu1352=)
c.4761G>A (p.Leu1587=)
c.3516G>A (p.Leu1172=)
c.1585-7124C>T (n.1585-7124C>T)
21g.45510093G>CCA513168446COL18A1,SLC19A1c.4065G>C (p.Leu1355=)
c.3525G>C (p.Leu1175=)
c.1569G>C (p.Leu523=)
c.4770G>C (p.Leu1590=)
c.498-11481C>G
c.479G>C
n.1851G>C
c.1294-11481C>G (n.1294-11481C>G)
c.4056G>C (p.Leu1352=)
c.4761G>C (p.Leu1587=)
c.3516G>C (p.Leu1172=)
c.1585-7124C>G (n.1585-7124C>G)
21g.45510093G>TCA513168448COL18A1,SLC19A1c.4065G>T (p.Leu1355=)
c.3525G>T (p.Leu1175=)
c.1569G>T (p.Leu523=)
c.4770G>T (p.Leu1590=)
c.498-11481C>A
c.479G>T
n.1851G>T
c.1294-11481C>A (n.1294-11481C>A)
c.4056G>T (p.Leu1352=)
c.4761G>T (p.Leu1587=)
c.3516G>T (p.Leu1172=)
c.1585-7124C>A (n.1585-7124C>A)
 gnomAD v4
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)
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

Number of alleles fetched