Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched