Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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.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.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.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.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.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.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.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
21g.45504514_45504519delCA2654918341COL18A1,SLC19A1c.3366_3371del (p.Pro1123_Pro1124del)
c.2826_2831del (p.Pro943_Pro944del)
c.867_872del (p.Pro290_Pro291del)
c.4071_4076del (p.Pro1358_Pro1359del)
c.498-5907_498-5902del
c.1294-5907_1294-5902del (n.1294-5907_1294-5902del)
c.1585-1550_1585-1545del (n.1585-1550_1585-1545del)
 gnomAD v4
21g.45504519delCA2392190744COL18A1,SLC19A1c.3371del (p.Pro1124GlnfsTer?)
c.2831del (p.Pro944GlnfsTer?)
c.872del (p.Pro291GlnfsTer?)
c.4076del (p.Pro1359GlnfsTer?)
c.498-5902del
c.1294-5902del (n.1294-5902del)
c.1585-1545del (n.1585-1545del)
 dbSNP gnomAD v3 gnomAD v4
21g.45504518_45504519delCA2654918346COL18A1,SLC19A1c.3370_3371del (p.Pro1124ArgfsTer?)
c.2830_2831del (p.Pro944ArgfsTer?)
c.871_872del (p.Pro291ArgfsTer?)
c.4075_4076del (p.Pro1359ArgfsTer?)
c.498-5903_498-5902del
c.1294-5903_1294-5902del (n.1294-5903_1294-5902del)
c.1585-1546_1585-1545del (n.1585-1546_1585-1545del)
 gnomAD v4
21g.45504516_45504519delCA2654918330COL18A1,SLC19A1c.3368_3371del (p.Pro1123GlnfsTer?)
c.2828_2831del (p.Pro943GlnfsTer?)
c.869_872del (p.Pro290GlnfsTer?)
c.4073_4076del (p.Pro1358GlnfsTer?)
c.498-5905_498-5902del
c.1294-5905_1294-5902del (n.1294-5905_1294-5902del)
c.1585-1548_1585-1545del (n.1585-1548_1585-1545del)
 gnomAD v4
21g.45504515_45504519delCA2654918343COL18A1,SLC19A1c.3367_3371del (p.Pro1123ArgfsTer?)
c.2827_2831del (p.Pro943ArgfsTer?)
c.868_872del (p.Pro290ArgfsTer?)
c.4072_4076del (p.Pro1358ArgfsTer?)
c.498-5906_498-5902del
c.1294-5906_1294-5902del (n.1294-5906_1294-5902del)
c.1585-1549_1585-1545del (n.1585-1549_1585-1545del)
 gnomAD v4
21g.45504514_45504520delCA2654918339COL18A1,SLC19A1c.3366_3372del (p.Pro1123AlafsTer?)
c.2826_2832del (p.Pro943AlafsTer?)
c.867_873del (p.Pro290AlafsTer?)
c.4071_4077del (p.Pro1358AlafsTer?)
c.498-5908_498-5902del
c.1294-5908_1294-5902del (n.1294-5908_1294-5902del)
c.1585-1551_1585-1545del (n.1585-1551_1585-1545del)
 gnomAD v4
21g.45504514_45504520delinsCCCCCCACA2392190747COL18A1,SLC19A1c.3366_3372delinsCCCCCCA (p.Gly1122=)
c.2826_2832delinsCCCCCCA (p.Gly942=)
c.867_873delinsCCCCCCA (p.Gly289=)
c.4071_4077delinsCCCCCCA (p.Gly1357=)
c.498-5908_498-5902delinsTGGGGGG
c.1294-5908_1294-5902delinsTGGGGGG (n.1294-5908_1294-5902delinsTGGGGGG)
c.1585-1551_1585-1545delinsTGGGGGG (n.1585-1551_1585-1545delinsTGGGGGG)
21g.45504514_45504522delinsCCCCCCAGGCA2392190746COL18A1,SLC19A1c.3366_3374delinsCCCCCCAGG (p.Gly1122=)
c.2826_2834delinsCCCCCCAGG (p.Gly942=)
c.867_875delinsCCCCCCAGG (p.Gly289=)
c.4071_4079delinsCCCCCCAGG (p.Gly1357=)
c.498-5910_498-5902delinsCCTGGGGGG
c.1294-5910_1294-5902delinsCCTGGGGGG (n.1294-5910_1294-5902delinsCCTGGGGGG)
c.1585-1553_1585-1545delinsCCTGGGGGG (n.1585-1553_1585-1545delinsCCTGGGGGG)
21g.45504519_45504528delCA2577627024COL18A1,SLC19A1c.3371_3380del (p.Pro1124GlnfsTer?)
c.2831_2840del (p.Pro944GlnfsTer?)
c.872_881del (p.Pro291GlnfsTer?)
c.4076_4085del (p.Pro1359GlnfsTer?)
c.498-5911_498-5902del
c.1294-5911_1294-5902del (n.1294-5911_1294-5902del)
c.1585-1554_1585-1545del (n.1585-1554_1585-1545del)
 gnomAD v4
21g.45504518_45504528delCA2654918334COL18A1,SLC19A1c.3370_3380del (p.Pro1124ArgfsTer?)
c.2830_2840del (p.Pro944ArgfsTer?)
c.871_881del (p.Pro291ArgfsTer?)
c.4075_4085del (p.Pro1359ArgfsTer?)
c.498-5912_498-5902del
c.1294-5912_1294-5902del (n.1294-5912_1294-5902del)
c.1585-1555_1585-1545del (n.1585-1555_1585-1545del)
 gnomAD v4
21g.45504514_45504529delinsCCCCCCAGGCCCCCCACA2392190745COL18A1,SLC19A1c.3366_3381delinsCCCCCCAGGCCCCCCA (p.Gly1122=)
c.2826_2841delinsCCCCCCAGGCCCCCCA (p.Gly942=)
c.867_882delinsCCCCCCAGGCCCCCCA (p.Gly289=)
c.4071_4086delinsCCCCCCAGGCCCCCCA (p.Gly1357=)
c.498-5917_498-5902delinsTGGGGGGCCTGGGGGG
c.1294-5917_1294-5902delinsTGGGGGGCCTGGGGGG (n.1294-5917_1294-5902delinsTGGGGGGCCTGGGGGG)
c.1585-1560_1585-1545delinsTGGGGGGCCTGGGGGG (n.1585-1560_1585-1545delinsTGGGGGGCCTGGGGGG)
21g.45504515_45504520delCA638497339COL18A1,SLC19A1c.3367_3372del (p.Pro1123_Pro1124del)
c.2827_2832del (p.Pro943_Pro944del)
c.868_873del (p.Pro290_Pro291del)
c.4072_4077del (p.Pro1358_Pro1359del)
c.498-5908_498-5903del
c.1294-5908_1294-5903del (n.1294-5908_1294-5903del)
c.1585-1551_1585-1546del (n.1585-1551_1585-1546del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45504515_45504520delinsCCCCCACA2392190748COL18A1,SLC19A1c.3367_3372delinsCCCCCA (p.Pro1123=)
c.2827_2832delinsCCCCCA (p.Pro943=)
c.868_873delinsCCCCCA (p.Pro290=)
c.4072_4077delinsCCCCCA (p.Pro1358=)
c.498-5908_498-5903delinsTGGGGG
c.1294-5908_1294-5903delinsTGGGGG (n.1294-5908_1294-5903delinsTGGGGG)
c.1585-1551_1585-1546delinsTGGGGG (n.1585-1551_1585-1546delinsTGGGGG)
21g.45504515_45504521delCA1139532547COL18A1,SLC19A1c.3367_3373del (p.Pro1123AlafsTer?)
c.2827_2833del (p.Pro943AlafsTer?)
c.868_874del (p.Pro290AlafsTer?)
c.4072_4078del (p.Pro1358AlafsTer?)
c.498-5909_498-5903del
c.1294-5909_1294-5903del (n.1294-5909_1294-5903del)
c.1585-1552_1585-1546del (n.1585-1552_1585-1546del)
 gnomAD v4
21g.45504520_45504527delCA638497340COL18A1,SLC19A1c.3372_3379del (p.Gly1125ArgfsTer?)
c.2832_2839del (p.Gly945ArgfsTer?)
c.873_880del (p.Gly292ArgfsTer?)
c.4077_4084del (p.Gly1360ArgfsTer?)
c.498-5910_498-5903del
c.1294-5910_1294-5903del (n.1294-5910_1294-5903del)
c.1585-1553_1585-1546del (n.1585-1553_1585-1546del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45504515_45504529delCA10067495COL18A1,SLC19A1c.3367_3381del (p.Pro1123_Pro1127del)
c.2827_2841del (p.Pro943_Pro947del)
c.868_882del (p.Pro290_Pro294del)
c.4072_4086del (p.Pro1358_Pro1362del)
c.498-5917_498-5903del
c.1294-5917_1294-5903del (n.1294-5917_1294-5903del)
c.1585-1560_1585-1546del (n.1585-1560_1585-1546del)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45504516_45504520delCA10067496COL18A1,SLC19A1c.3368_3372del (p.Pro1123ArgfsTer?)
c.2828_2832del (p.Pro943ArgfsTer?)
c.869_873del (p.Pro290ArgfsTer?)
c.4073_4077del (p.Pro1358ArgfsTer?)
c.498-5908_498-5904del
c.1294-5908_1294-5904del (n.1294-5908_1294-5904del)
c.1585-1551_1585-1547del (n.1585-1551_1585-1547del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504520_45504526delCA2739267721COL18A1,SLC19A1c.3372_3378del (p.Gly1125GlnfsTer?)
c.2832_2838del (p.Gly945GlnfsTer?)
c.873_879del (p.Gly292GlnfsTer?)
c.4077_4083del (p.Gly1360GlnfsTer?)
c.498-5910_498-5904del
c.1294-5910_1294-5904del (n.1294-5910_1294-5904del)
c.1585-1553_1585-1547del (n.1585-1553_1585-1547del)
 ClinVar
21g.45504517C>ACA512687172COL18A1,SLC19A1c.3369C>A (p.Pro1123=)
c.2829C>A (p.Pro943=)
c.870C>A (p.Pro290=)
c.4074C>A (p.Pro1358=)
c.498-5905G>T
c.1294-5905G>T (n.1294-5905G>T)
c.1585-1548G>T (n.1585-1548G>T)
 dbSNP
21g.45504517C=CA2392190752COL18A1,SLC19A1c.3369C= (p.Pro1123=)
c.2829C= (p.Pro943=)
c.870C= (p.Pro290=)
c.4074C= (p.Pro1358=)
c.498-5905G=
c.1294-5905G= (n.1294-5905G=)
c.1585-1548G= (n.1585-1548G=)
21g.45504517C>GCA512687173COL18A1,SLC19A1c.3369C>G (p.Pro1123=)
c.2829C>G (p.Pro943=)
c.870C>G (p.Pro290=)
c.4074C>G (p.Pro1358=)
c.498-5905G>C
c.1294-5905G>C (n.1294-5905G>C)
c.1585-1548G>C (n.1585-1548G>C)
21g.45504517C>TCA512687174COL18A1,SLC19A1c.3369C>T (p.Pro1123=)
c.2829C>T (p.Pro943=)
c.870C>T (p.Pro290=)
c.4074C>T (p.Pro1358=)
c.498-5905G>A
c.1294-5905G>A (n.1294-5905G>A)
c.1585-1548G>A (n.1585-1548G>A)
 dbSNP
21g.45504517_45504520delinsCCCACA2392190751COL18A1,SLC19A1c.3369_3372delinsCCCA (p.Pro1123=)
c.2829_2832delinsCCCA (p.Pro943=)
c.870_873delinsCCCA (p.Pro290=)
c.4074_4077delinsCCCA (p.Pro1358=)
c.498-5908_498-5905delinsTGGG
c.1294-5908_1294-5905delinsTGGG (n.1294-5908_1294-5905delinsTGGG)
c.1585-1551_1585-1548delinsTGGG (n.1585-1551_1585-1548delinsTGGG)
21g.45504517_45504535delinsCCCAGGCCCCCCAGGCCCACA2392190753COL18A1,SLC19A1c.3369_3387delinsCCCAGGCCCCCCAGGCCCA (p.Pro1123=)
c.2829_2847delinsCCCAGGCCCCCCAGGCCCA (p.Pro943=)
c.870_888delinsCCCAGGCCCCCCAGGCCCA (p.Pro290=)
c.4074_4092delinsCCCAGGCCCCCCAGGCCCA (p.Pro1358=)
c.498-5923_498-5905delinsTGGGCCTGGGGGGCCTGGG
c.1294-5923_1294-5905delinsTGGGCCTGGGGGGCCTGGG (n.1294-5923_1294-5905delinsTGGGCCTGGGGGGCCTGGG)
c.1585-1566_1585-1548delinsTGGGCCTGGGGGGCCTGGG (n.1585-1566_1585-1548delinsTGGGCCTGGGGGGCCTGGG)
21g.45504518C>ACA410499283COL18A1,SLC19A1c.3370C>A (p.Pro1124Thr)
c.2830C>A (p.Pro944Thr)
c.871C>A (p.Pro291Thr)
c.4075C>A (p.Pro1359Thr)
c.498-5906G>T
c.1294-5906G>T (n.1294-5906G>T)
c.1585-1549G>T (n.1585-1549G>T)
21g.45504518C>GCA410499284COL18A1,SLC19A1c.3370C>G (p.Pro1124Ala)
c.2830C>G (p.Pro944Ala)
c.871C>G (p.Pro291Ala)
c.4075C>G (p.Pro1359Ala)
c.498-5906G>C
c.1294-5906G>C (n.1294-5906G>C)
c.1585-1549G>C (n.1585-1549G>C)
21g.45504518C>TCA410499285COL18A1,SLC19A1c.3370C>T (p.Pro1124Ser)
c.2830C>T (p.Pro944Ser)
c.871C>T (p.Pro291Ser)
c.4075C>T (p.Pro1359Ser)
c.498-5906G>A
c.1294-5906G>A (n.1294-5906G>A)
c.1585-1549G>A (n.1585-1549G>A)
21g.45504518_45504520delCA10067497COL18A1,SLC19A1c.3370_3372del (p.Pro1124del)
c.2830_2832del (p.Pro944del)
c.871_873del (p.Pro291del)
c.4075_4077del (p.Pro1359del)
c.498-5908_498-5906del
c.1294-5908_1294-5906del (n.1294-5908_1294-5906del)
c.1585-1551_1585-1549del (n.1585-1551_1585-1549del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched