Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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_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.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.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.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.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.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.45504518_45504535delinsCCAGGCCCCCCAGGCCCACA2392190755COL18A1,SLC19A1c.3370_3387delinsCCAGGCCCCCCAGGCCCA (p.Pro1124=)
c.2830_2847delinsCCAGGCCCCCCAGGCCCA (p.Pro944=)
c.871_888delinsCCAGGCCCCCCAGGCCCA (p.Pro291=)
c.4075_4092delinsCCAGGCCCCCCAGGCCCA (p.Pro1359=)
c.498-5923_498-5906delinsTGGGCCTGGGGGGCCTGG
c.1294-5923_1294-5906delinsTGGGCCTGGGGGGCCTGG (n.1294-5923_1294-5906delinsTGGGCCTGGGGGGCCTGG)
c.1585-1566_1585-1549delinsTGGGCCTGGGGGGCCTGG (n.1585-1566_1585-1549delinsTGGGCCTGGGGGGCCTGG)
21g.45504519_45504536delCA10067498COL18A1,SLC19A1c.3371_3388del (p.Pro1124_Pro1129del)
c.2831_2848del (p.Pro944_Pro949del)
c.872_889del (p.Pro291_Pro296del)
c.4076_4093del (p.Pro1359_Pro1364del)
c.498-5923_498-5906del
c.1294-5923_1294-5906del (n.1294-5923_1294-5906del)
c.1585-1566_1585-1549del (n.1585-1566_1585-1549del)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45504520_45504536delCA749787712COL18A1,SLC19A1c.3372_3388del (p.Gly1125TrpfsTer?)
c.2832_2848del (p.Gly945TrpfsTer?)
c.873_889del (p.Gly292TrpfsTer?)
c.4077_4093del (p.Gly1360TrpfsTer?)
c.498-5923_498-5907del
c.1294-5923_1294-5907del (n.1294-5923_1294-5907del)
c.1585-1566_1585-1550del (n.1585-1566_1585-1550del)
 dbSNP gnomAD v3 gnomAD v4
21g.45504519_45504537delCA2695230313COL18A1,SLC19A1c.3371_3389del (p.Pro1124LeufsTer?)
c.2831_2849del (p.Pro944LeufsTer?)
c.872_890del (p.Pro291LeufsTer?)
c.4076_4094del (p.Pro1359LeufsTer?)
c.498-5925_498-5907del
c.1294-5925_1294-5907del (n.1294-5925_1294-5907del)
c.1585-1568_1585-1550del (n.1585-1568_1585-1550del)
21g.45504520_45504528delinsAGGCCCCCCCA2392190759COL18A1,SLC19A1c.3372_3380delinsAGGCCCCCC (p.Pro1124=)
c.2832_2840delinsAGGCCCCCC (p.Pro944=)
c.873_881delinsAGGCCCCCC (p.Pro291=)
c.4077_4085delinsAGGCCCCCC (p.Pro1359=)
c.498-5916_498-5908delinsGGGGGGCCT
c.1294-5916_1294-5908delinsGGGGGGCCT (n.1294-5916_1294-5908delinsGGGGGGCCT)
c.1585-1559_1585-1551delinsGGGGGGCCT (n.1585-1559_1585-1551delinsGGGGGGCCT)
21g.45504520_45504529delCA2577627028COL18A1,SLC19A1c.3372_3381del (p.Gly1125AlafsTer?)
c.2832_2841del (p.Gly945AlafsTer?)
c.873_882del (p.Gly292AlafsTer?)
c.4077_4086del (p.Gly1360AlafsTer?)
c.498-5917_498-5908del
c.1294-5917_1294-5908del (n.1294-5917_1294-5908del)
c.1585-1560_1585-1551del (n.1585-1560_1585-1551del)
 gnomAD v4
21g.45504521_45504527delCA2654918405COL18A1,SLC19A1c.3373_3379del (p.Gly1125GlnfsTer?)
c.2833_2839del (p.Gly945GlnfsTer?)
c.874_880del (p.Gly292GlnfsTer?)
c.4078_4084del (p.Gly1360GlnfsTer?)
c.498-5915_498-5909del
c.1294-5915_1294-5909del (n.1294-5915_1294-5909del)
c.1585-1558_1585-1552del (n.1585-1558_1585-1552del)
 gnomAD v4
21g.45504521_45504528delCA645509361COL18A1,SLC19A1c.3373_3380del (p.Gly1125ArgfsTer?)
c.2833_2840del (p.Gly945ArgfsTer?)
c.874_881del (p.Gly292ArgfsTer?)
c.4078_4085del (p.Gly1360ArgfsTer?)
c.498-5916_498-5909del
c.1294-5916_1294-5909del (n.1294-5916_1294-5909del)
c.1585-1559_1585-1552del (n.1585-1559_1585-1552del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.45504521_45504528delinsGGCCCCCCCA2392190763COL18A1,SLC19A1c.3373_3380delinsGGCCCCCC (p.Gly1125=)
c.2833_2840delinsGGCCCCCC (p.Gly945=)
c.874_881delinsGGCCCCCC (p.Gly292=)
c.4078_4085delinsGGCCCCCC (p.Gly1360=)
c.498-5916_498-5909delinsGGGGGGCC
c.1294-5916_1294-5909delinsGGGGGGCC (n.1294-5916_1294-5909delinsGGGGGGCC)
c.1585-1559_1585-1552delinsGGGGGGCC (n.1585-1559_1585-1552delinsGGGGGGCC)
21g.45504521_45504534delinsGGCCCCCCAGGCCCCA2580615220COL18A1,SLC19A1c.3373_3386delinsGGCCCCCCAGGCCC (p.Gly1125=)
c.2833_2846delinsGGCCCCCCAGGCCC (p.Gly945=)
c.874_887delinsGGCCCCCCAGGCCC (p.Gly292=)
c.4078_4091delinsGGCCCCCCAGGCCC (p.Gly1360=)
c.498-5922_498-5909delinsGGGCCTGGGGGGCC
c.1294-5922_1294-5909delinsGGGCCTGGGGGGCC (n.1294-5922_1294-5909delinsGGGCCTGGGGGGCC)
c.1585-1565_1585-1552delinsGGGCCTGGGGGGCC (n.1585-1565_1585-1552delinsGGGCCTGGGGGGCC)
21g.45504524_45504541delCA2573054949COL18A1,SLC19A1c.3376_3393del (p.Pro1126_Gly1131del)
c.2836_2853del (p.Pro946_Gly951del)
c.877_894del (p.Pro293_Gly298del)
c.4081_4098del (p.Pro1361_Gly1366del)
c.498-5926_498-5909del
c.1294-5926_1294-5909del (n.1294-5926_1294-5909del)
c.1585-1569_1585-1552del (n.1585-1569_1585-1552del)
 ClinVar dbSNP gnomAD v4
21g.45504522_45504528delCA638497341COL18A1,SLC19A1c.3374_3380del (p.Gly1125GlufsTer?)
c.2834_2840del (p.Gly945GlufsTer?)
c.875_881del (p.Gly292GlufsTer?)
c.4079_4085del (p.Gly1360GlufsTer?)
c.498-5916_498-5910del
c.1294-5916_1294-5910del (n.1294-5916_1294-5910del)
c.1585-1559_1585-1553del (n.1585-1559_1585-1553del)
 dbSNP gnomAD v2 gnomAD v4
21g.45504523_45504530delCA2737718769COL18A1,SLC19A1c.3375_3382del (p.Pro1127ThrfsTer?)
c.2835_2842del (p.Pro947ThrfsTer?)
c.876_883del (p.Pro294ThrfsTer?)
c.4080_4087del (p.Pro1362ThrfsTer?)
c.498-5917_498-5910del
c.1294-5917_1294-5910del (n.1294-5917_1294-5910del)
c.1585-1560_1585-1553del (n.1585-1560_1585-1553del)
 dbSNP
21g.45504522_45504532delinsACA2580098870COL18A1,SLC19A1c.3374_3384delinsA (p.Gly1125AspfsTer?)
c.2834_2844delinsA (p.Gly945AspfsTer?)
c.875_885delinsA (p.Gly292AspfsTer?)
c.4079_4089delinsA (p.Gly1360AspfsTer?)
c.498-5920_498-5910delinsT
c.1294-5920_1294-5910delinsT (n.1294-5920_1294-5910delinsT)
c.1585-1563_1585-1553delinsT (n.1585-1563_1585-1553delinsT)
 ClinVar
21g.45504523_45504528delCA2654918440COL18A1,SLC19A1c.3375_3380del (p.Pro1126_Pro1127del)
c.2835_2840del (p.Pro946_Pro947del)
c.876_881del (p.Pro293_Pro294del)
c.4080_4085del (p.Pro1361_Pro1362del)
c.498-5916_498-5911del
c.1294-5916_1294-5911del (n.1294-5916_1294-5911del)
c.1585-1559_1585-1554del (n.1585-1559_1585-1554del)
 gnomAD v4
21g.45504524_45504528delCA2654918438COL18A1,SLC19A1c.3376_3380del (p.Pro1126ArgfsTer?)
c.2836_2840del (p.Pro946ArgfsTer?)
c.877_881del (p.Pro293ArgfsTer?)
c.4081_4085del (p.Pro1361ArgfsTer?)
c.498-5915_498-5911del
c.1294-5915_1294-5911del (n.1294-5915_1294-5911del)
c.1585-1558_1585-1554del (n.1585-1558_1585-1554del)
 gnomAD v4
21g.45504523_45504529delCA2654918442COL18A1,SLC19A1c.3375_3381del (p.Pro1126AlafsTer?)
c.2835_2841del (p.Pro946AlafsTer?)
c.876_882del (p.Pro293AlafsTer?)
c.4080_4086del (p.Pro1361AlafsTer?)
c.498-5917_498-5911del
c.1294-5917_1294-5911del (n.1294-5917_1294-5911del)
c.1585-1560_1585-1554del (n.1585-1560_1585-1554del)
 gnomAD v4
21g.45504523_45504529delinsCCCCCCACA2392190764COL18A1,SLC19A1c.3375_3381delinsCCCCCCA (p.Gly1125=)
c.2835_2841delinsCCCCCCA (p.Gly945=)
c.876_882delinsCCCCCCA (p.Gly292=)
c.4080_4086delinsCCCCCCA (p.Gly1360=)
c.498-5917_498-5911delinsTGGGGGG
c.1294-5917_1294-5911delinsTGGGGGG (n.1294-5917_1294-5911delinsTGGGGGG)
c.1585-1560_1585-1554delinsTGGGGGG (n.1585-1560_1585-1554delinsTGGGGGG)
21g.45504523_45504531delinsCCCCCCAGGCA2392190765COL18A1,SLC19A1c.3375_3383delinsCCCCCCAGG (p.Gly1125=)
c.2835_2843delinsCCCCCCAGG (p.Gly945=)
c.876_884delinsCCCCCCAGG (p.Gly292=)
c.4080_4088delinsCCCCCCAGG (p.Gly1360=)
c.498-5919_498-5911delinsCCTGGGGGG
c.1294-5919_1294-5911delinsCCTGGGGGG (n.1294-5919_1294-5911delinsCCTGGGGGG)
c.1585-1562_1585-1554delinsCCTGGGGGG (n.1585-1562_1585-1554delinsCCTGGGGGG)
21g.45504525_45504534delCA2737718785COL18A1,SLC19A1c.3377_3386del (p.Pro1126HisfsTer?)
c.2837_2846del (p.Pro946HisfsTer?)
c.878_887del (p.Pro293HisfsTer?)
c.4082_4091del (p.Pro1361HisfsTer?)
c.498-5920_498-5911del
c.1294-5920_1294-5911del (n.1294-5920_1294-5911del)
c.1585-1563_1585-1554del (n.1585-1563_1585-1554del)
 dbSNP
21g.45504524_45504529delCA10067504COL18A1,SLC19A1c.3376_3381del (p.Pro1126_Pro1127del)
c.2836_2841del (p.Pro946_Pro947del)
c.877_882del (p.Pro293_Pro294del)
c.4081_4086del (p.Pro1361_Pro1362del)
c.498-5917_498-5912del
c.1294-5917_1294-5912del (n.1294-5917_1294-5912del)
c.1585-1560_1585-1555del (n.1585-1560_1585-1555del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504527_45504534delCA1022823893COL18A1,SLC19A1c.3379_3386del (p.Pro1127ThrfsTer?)
c.2839_2846del (p.Pro947ThrfsTer?)
c.880_887del (p.Pro294ThrfsTer?)
c.4084_4091del (p.Pro1362ThrfsTer?)
c.498-5919_498-5912del
c.1294-5919_1294-5912del (n.1294-5919_1294-5912del)
c.1585-1562_1585-1555del (n.1585-1562_1585-1555del)
 dbSNP gnomAD v3 gnomAD v4
21g.45504525_45504530delCA1139769947COL18A1,SLC19A1c.3377_3382del (p.Pro1126_Gly1128delinsArg)
c.2837_2842del (p.Pro946_Gly948delinsArg)
c.878_883del (p.Pro293_Gly295delinsArg)
c.4082_4087del (p.Pro1361_Gly1363delinsArg)
c.498-5918_498-5913del
c.1294-5918_1294-5913del (n.1294-5918_1294-5913del)
c.1585-1561_1585-1556del (n.1585-1561_1585-1556del)
21g.45504526C>ACA512687179COL18A1,SLC19A1c.3378C>A (p.Pro1126=)
c.2838C>A (p.Pro946=)
c.879C>A (p.Pro293=)
c.4083C>A (p.Pro1361=)
c.498-5914G>T
c.1294-5914G>T (n.1294-5914G>T)
c.1585-1557G>T (n.1585-1557G>T)
 dbSNP gnomAD v3 gnomAD v4
21g.45504526C=CA2392190770COL18A1,SLC19A1c.3378C= (p.Pro1126=)
c.2838C= (p.Pro946=)
c.879C= (p.Pro293=)
c.4083C= (p.Pro1361=)
c.498-5914G=
c.1294-5914G= (n.1294-5914G=)
c.1585-1557G= (n.1585-1557G=)
21g.45504526C>GCA512687180COL18A1,SLC19A1c.3378C>G (p.Pro1126=)
c.2838C>G (p.Pro946=)
c.879C>G (p.Pro293=)
c.4083C>G (p.Pro1361=)
c.498-5914G>C
c.1294-5914G>C (n.1294-5914G>C)
c.1585-1557G>C (n.1585-1557G>C)
21g.45504526C>TCA10067506COL18A1,SLC19A1c.3378C>T (p.Pro1126=)
c.2838C>T (p.Pro946=)
c.879C>T (p.Pro293=)
c.4083C>T (p.Pro1361=)
c.498-5914G>A
c.1294-5914G>A (n.1294-5914G>A)
c.1585-1557G>A (n.1585-1557G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504526_45504535delinsCCCAGGCCCACA2392190769COL18A1,SLC19A1c.3378_3387delinsCCCAGGCCCA (p.Pro1126=)
c.2838_2847delinsCCCAGGCCCA (p.Pro946=)
c.879_888delinsCCCAGGCCCA (p.Pro293=)
c.4083_4092delinsCCCAGGCCCA (p.Pro1361=)
c.498-5923_498-5914delinsTGGGCCTGGG
c.1294-5923_1294-5914delinsTGGGCCTGGG (n.1294-5923_1294-5914delinsTGGGCCTGGG)
c.1585-1566_1585-1557delinsTGGGCCTGGG (n.1585-1566_1585-1557delinsTGGGCCTGGG)
21g.45504530_45504535delCA1139771582COL18A1,SLC19A1c.3382_3387del (p.Gly1128_Pro1129del)
c.2842_2847del (p.Gly948_Pro949del)
c.883_888del (p.Gly295_Pro296del)
c.4087_4092del (p.Gly1363_Pro1364del)
c.498-5919_498-5914del
c.1294-5919_1294-5914del (n.1294-5919_1294-5914del)
c.1585-1562_1585-1557del (n.1585-1562_1585-1557del)
21g.45504527C>ACA410499299COL18A1,SLC19A1c.3379C>A (p.Pro1127Thr)
c.2839C>A (p.Pro947Thr)
c.880C>A (p.Pro294Thr)
c.4084C>A (p.Pro1362Thr)
c.498-5915G>T
c.1294-5915G>T (n.1294-5915G>T)
c.1585-1558G>T (n.1585-1558G>T)
21g.45504527C=CA2392190771COL18A1,SLC19A1c.3379C= (p.Pro1127=)
c.2839C= (p.Pro947=)
c.880C= (p.Pro294=)
c.4084C= (p.Pro1362=)
c.498-5915G=
c.1294-5915G= (n.1294-5915G=)
c.1585-1558G= (n.1585-1558G=)
21g.45504527C>GCA410499300COL18A1,SLC19A1c.3379C>G (p.Pro1127Ala)
c.2839C>G (p.Pro947Ala)
c.880C>G (p.Pro294Ala)
c.4084C>G (p.Pro1362Ala)
c.498-5915G>C
c.1294-5915G>C (n.1294-5915G>C)
c.1585-1558G>C (n.1585-1558G>C)
21g.45504527C>TCA410499301COL18A1,SLC19A1c.3379C>T (p.Pro1127Ser)
c.2839C>T (p.Pro947Ser)
c.880C>T (p.Pro294Ser)
c.4084C>T (p.Pro1362Ser)
c.498-5915G>A
c.1294-5915G>A (n.1294-5915G>A)
c.1585-1558G>A (n.1585-1558G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.45504528_45504536delCA410499302COL18A1,SLC19A1c.3380_3388del (p.Pro1127_Pro1129del)
c.2840_2848del (p.Pro947_Pro949del)
c.881_889del (p.Pro294_Pro296del)
c.4085_4093del (p.Pro1362_Pro1364del)
c.498-5923_498-5915del
c.1294-5923_1294-5915del (n.1294-5923_1294-5915del)
c.1585-1566_1585-1558del (n.1585-1566_1585-1558del)
 ClinVar dbSNP
21g.45504528C>ACA410499303COL18A1,SLC19A1c.3380C>A (p.Pro1127Gln)
c.2840C>A (p.Pro947Gln)
c.881C>A (p.Pro294Gln)
c.4085C>A (p.Pro1362Gln)
c.498-5916G>T
c.1294-5916G>T (n.1294-5916G>T)
c.1585-1559G>T (n.1585-1559G>T)

Number of alleles fetched