Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.45504494_45504512delinsAGCCTGCCCGGCCCCCCCGCA2392190710COL18A1,SLC19A1c.3346_3364delinsAGCCTGCCCGGCCCCCCCG (p.Ser1116=)
c.2806_2824delinsAGCCTGCCCGGCCCCCCCG (p.Ser936=)
n.847_865delinsAGCCTGCCCGGCCCCCCCG (p.Ser283=)
n.4051_4069delinsAGCCTGCCCGGCCCCCCCG (p.Ser1351=)
n.498-5900_498-5882delinsCGGGGGGGCCGGGCAGGCT
c.1294-5900_1294-5882delinsCGGGGGGGCCGGGCAGGCT (n.1294-5900_1294-5882delinsCGGGGGGGCCGGGCAGGCT)
c.4051_4069delinsAGCCTGCCCGGCCCCCCCG (p.Ser1351=)
c.1585-1543_1585-1525delinsCGGGGGGGCCGGGCAGGCT (n.1585-1543_1585-1525delinsCGGGGGGGCCGGGCAGGCT)
21g.45504498_45504515delCA749787629COL18A1,SLC19A1c.3350_3367del (p.Leu1117_Gly1122del)
c.2810_2827del (p.Leu937_Gly942del)
n.851_868del (p.Leu284_Gly289del)
n.4055_4072del (p.Leu1352_Gly1357del)
n.498-5900_498-5883del
c.1294-5900_1294-5883del (n.1294-5900_1294-5883del)
c.4055_4072del (p.Leu1352_Gly1357del)
c.1585-1543_1585-1526del (n.1585-1543_1585-1526del)
dbSNP
21g.45504511_45504519delCA10067477COL18A1,SLC19A1c.3363_3371del (p.Gly1122_Pro1124del)
c.2823_2831del (p.Gly942_Pro944del)
n.864_872del (p.Gly289_Pro291del)
n.4068_4076del (p.Gly1357_Pro1359del)
n.498-5896_498-5888del
c.1294-5896_1294-5888del (n.1294-5896_1294-5888del)
c.4068_4076del (p.Gly1357_Pro1359del)
c.1585-1539_1585-1531del (n.1585-1539_1585-1531del)
ClinVar dbSNP ExAC gnomAD
21g.45504502_45504520delinsCGGCCCCCCCGGCCCCCCACA2392190720COL18A1,SLC19A1c.3354_3372delinsCGGCCCCCCCGGCCCCCCA (p.Pro1118=)
c.2814_2832delinsCGGCCCCCCCGGCCCCCCA (p.Pro938=)
n.855_873delinsCGGCCCCCCCGGCCCCCCA (p.Pro285=)
n.4059_4077delinsCGGCCCCCCCGGCCCCCCA (p.Pro1353=)
n.498-5908_498-5890delinsTGGGGGGCCGGGGGGGCCG
c.1294-5908_1294-5890delinsTGGGGGGCCGGGGGGGCCG (n.1294-5908_1294-5890delinsTGGGGGGCCGGGGGGGCCG)
c.4059_4077delinsCGGCCCCCCCGGCCCCCCA (p.Pro1353=)
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)
n.864_881del (p.Gly289_Pro294del)
n.4068_4085del (p.Gly1357_Pro1362del)
n.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 COSMIC COSMIC
21g.45504505_45504513delinsCCCCCCCGGCA2392190724COL18A1,SLC19A1c.3357_3365delinsCCCCCCCGG (p.Gly1119=)
c.2817_2825delinsCCCCCCCGG (p.Gly939=)
n.858_866delinsCCCCCCCGG (p.Gly286=)
n.4062_4070delinsCCCCCCCGG (p.Gly1354=)
n.498-5901_498-5893delinsCCGGGGGGG
c.1294-5901_1294-5893delinsCCGGGGGGG (n.1294-5901_1294-5893delinsCCGGGGGGG)
c.4062_4070delinsCCCCCCCGG (p.Gly1354=)
c.1585-1544_1585-1536delinsCCGGGGGGG (n.1585-1544_1585-1536delinsCCGGGGGGG)
21g.45504505_45504522delinsCCCCCCCGGCCCCCCAGGCA2392190723COL18A1,SLC19A1c.3357_3374delinsCCCCCCCGGCCCCCCAGG (p.Gly1119=)
c.2817_2834delinsCCCCCCCGGCCCCCCAGG (p.Gly939=)
n.858_875delinsCCCCCCCGGCCCCCCAGG (p.Gly286=)
n.4062_4079delinsCCCCCCCGGCCCCCCAGG (p.Gly1354=)
n.498-5910_498-5893delinsCCTGGGGGGCCGGGGGGG
c.1294-5910_1294-5893delinsCCTGGGGGGCCGGGGGGG (n.1294-5910_1294-5893delinsCCTGGGGGGCCGGGGGGG)
c.4062_4079delinsCCCCCCCGGCCCCCCAGG (p.Gly1354=)
c.1585-1553_1585-1536delinsCCTGGGGGGCCGGGGGGG (n.1585-1553_1585-1536delinsCCTGGGGGGCCGGGGGGG)
21g.45504506_45504512delinsCCCCCCGCA2392190726COL18A1,SLC19A1c.3358_3364delinsCCCCCCG (p.Pro1120=)
c.2818_2824delinsCCCCCCG (p.Pro940=)
n.859_865delinsCCCCCCG (p.Pro287=)
n.4063_4069delinsCCCCCCG (p.Pro1355=)
n.498-5900_498-5894delinsCGGGGGG
c.1294-5900_1294-5894delinsCGGGGGG (n.1294-5900_1294-5894delinsCGGGGGG)
c.4063_4069delinsCCCCCCG (p.Pro1355=)
c.1585-1543_1585-1537delinsCGGGGGG (n.1585-1543_1585-1537delinsCGGGGGG)
21g.45504512_45504519delCA10067484COL18A1,SLC19A1c.3364_3371del (p.Gly1122ArgfsTer?)
c.2824_2831del (p.Gly942ArgfsTer?)
n.865_872del (p.Gly289ArgfsTer?)
n.4069_4076del (p.Gly1357ArgfsTer?)
n.498-5901_498-5894del
c.1294-5901_1294-5894del (n.1294-5901_1294-5894del)
c.4069_4076del (p.Gly1357ArgfsTer?)
c.1585-1544_1585-1537del (n.1585-1544_1585-1537del)
ClinVar dbSNP ExAC gnomAD
21g.45504512_45504528delCA10067485COL18A1,SLC19A1c.3364_3380del (p.Gly1122ArgfsTer?)
c.2824_2840del (p.Gly942ArgfsTer?)
n.865_881del (p.Gly289ArgfsTer?)
n.4069_4085del (p.Gly1357ArgfsTer?)
n.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
21g.45504507_45504512delCA10067486COL18A1,SLC19A1c.3359_3364del (p.Pro1120_Gly1122delinsArg)
c.2819_2824del (p.Pro940_Gly942delinsArg)
n.860_865del (p.Pro287_Gly289delinsArg)
n.4064_4069del (p.Pro1355_Gly1357delinsArg)
n.498-5900_498-5895del
c.1294-5900_1294-5895del (n.1294-5900_1294-5895del)
c.4064_4069del (p.Pro1355_Gly1357delinsArg)
c.1585-1543_1585-1538del (n.1585-1543_1585-1538del)
dbSNP ExAC gnomAD
21g.45504508_45504512delinsCCCCGCA2392190729COL18A1,SLC19A1c.3360_3364delinsCCCCG (p.Pro1120=)
c.2820_2824delinsCCCCG (p.Pro940=)
n.861_865delinsCCCCG (p.Pro287=)
n.4065_4069delinsCCCCG (p.Pro1355=)
n.498-5900_498-5896delinsCGGGG
c.1294-5900_1294-5896delinsCGGGG (n.1294-5900_1294-5896delinsCGGGG)
c.4065_4069delinsCCCCG (p.Pro1355=)
c.1585-1543_1585-1539delinsCGGGG (n.1585-1543_1585-1539delinsCGGGG)
21g.45504509_45504512delCA10067490COL18A1,SLC19A1c.3361_3364del (p.Pro1121AlafsTer?)
c.2821_2824del (p.Pro941AlafsTer?)
n.862_865del (p.Pro288AlafsTer?)
n.4066_4069del (p.Pro1356AlafsTer?)
n.498-5900_498-5897del
c.1294-5900_1294-5897del (n.1294-5900_1294-5897del)
c.4066_4069del (p.Pro1356AlafsTer?)
c.1585-1543_1585-1540del (n.1585-1543_1585-1540del)
dbSNP ExAC gnomAD
21g.45504509_45504520delinsCCCGGCCCCCCACA2392190731COL18A1,SLC19A1c.3361_3372delinsCCCGGCCCCCCA (p.Pro1121=)
c.2821_2832delinsCCCGGCCCCCCA (p.Pro941=)
n.862_873delinsCCCGGCCCCCCA (p.Pro288=)
n.4066_4077delinsCCCGGCCCCCCA (p.Pro1356=)
n.498-5908_498-5897delinsTGGGGGGCCGGG
c.1294-5908_1294-5897delinsTGGGGGGCCGGG (n.1294-5908_1294-5897delinsTGGGGGGCCGGG)
c.4066_4077delinsCCCGGCCCCCCA (p.Pro1356=)
c.1585-1551_1585-1540delinsTGGGGGGCCGGG (n.1585-1551_1585-1540delinsTGGGGGGCCGGG)
21g.45504510_45504520delCA638497337COL18A1,SLC19A1c.3362_3372del (p.Pro1121ArgfsTer?)
c.2822_2832del (p.Pro941ArgfsTer?)
n.863_873del (p.Pro288ArgfsTer?)
n.4067_4077del (p.Pro1356ArgfsTer?)
n.498-5908_498-5898del
c.1294-5908_1294-5898del (n.1294-5908_1294-5898del)
c.4067_4077del (p.Pro1356ArgfsTer?)
c.1585-1551_1585-1541del (n.1585-1551_1585-1541del)
dbSNP gnomAD
21g.45504510_45504520delinsCCGGCCCCCCACA2392190734COL18A1,SLC19A1c.3362_3372delinsCCGGCCCCCCA (p.Pro1121=)
c.2822_2832delinsCCGGCCCCCCA (p.Pro941=)
n.863_873delinsCCGGCCCCCCA (p.Pro288=)
n.4067_4077delinsCCGGCCCCCCA (p.Pro1356=)
n.498-5908_498-5898delinsTGGGGGGCCGG
c.1294-5908_1294-5898delinsTGGGGGGCCGG (n.1294-5908_1294-5898delinsTGGGGGGCCGG)
c.4067_4077delinsCCGGCCCCCCA (p.Pro1356=)
c.1585-1551_1585-1541delinsTGGGGGGCCGG (n.1585-1551_1585-1541delinsTGGGGGGCCGG)
21g.45504511_45504513delinsCGGCA2392190736COL18A1,SLC19A1c.3363_3365delinsCGG (p.Pro1121=)
c.2823_2825delinsCGG (p.Pro941=)
n.864_866delinsCGG (p.Pro288=)
n.4068_4070delinsCGG (p.Pro1356=)
n.498-5901_498-5899delinsCCG
c.1294-5901_1294-5899delinsCCG (n.1294-5901_1294-5899delinsCCG)
c.4068_4070delinsCGG (p.Pro1356=)
c.1585-1544_1585-1542delinsCCG (n.1585-1544_1585-1542delinsCCG)
21g.45504511_45504520delCA512687168COL18A1,SLC19A1c.3363_3372del (p.Gly1122AlafsTer?)
c.2823_2832del (p.Gly942AlafsTer?)
n.864_873del (p.Gly289AlafsTer?)
n.4068_4077del (p.Gly1357AlafsTer?)
n.498-5908_498-5899del
c.1294-5908_1294-5899del (n.1294-5908_1294-5899del)
c.4068_4077del (p.Gly1357AlafsTer?)
c.1585-1551_1585-1542del (n.1585-1551_1585-1542del)
dbSNP gnomAD
21g.45504511_45504520delinsCGGCCCCCCACA2497029955COL18A1,SLC19A1c.3363_3372delinsCGGCCCCCCA (p.Pro1121=)
c.2823_2832delinsCGGCCCCCCA (p.Pro941=)
n.864_873delinsCGGCCCCCCA (p.Pro288=)
n.4068_4077delinsCGGCCCCCCA (p.Pro1356=)
n.498-5908_498-5899delinsTGGGGGGCCG
c.1294-5908_1294-5899delinsTGGGGGGCCG (n.1294-5908_1294-5899delinsTGGGGGGCCG)
c.4068_4077delinsCGGCCCCCCA (p.Pro1356=)
c.1585-1551_1585-1542delinsTGGGGGGCCG (n.1585-1551_1585-1542delinsTGGGGGGCCG)
21g.45504511_45504529delCA638497338COL18A1,SLC19A1c.3363_3381del (p.Gly1122AlafsTer?)
c.2823_2841del (p.Gly942AlafsTer?)
n.864_882del (p.Gly289AlafsTer?)
n.4068_4086del (p.Gly1357AlafsTer?)
n.498-5917_498-5899del
c.1294-5917_1294-5899del (n.1294-5917_1294-5899del)
c.1585-1560_1585-1542del (n.1585-1560_1585-1542del)
gnomAD
21g.45504511_45504529delinsCGGCCCCCCAGGCCCCCCACA2392190735COL18A1,SLC19A1c.3363_3381delinsCGGCCCCCCAGGCCCCCCA (p.Pro1121=)
c.2823_2841delinsCGGCCCCCCAGGCCCCCCA (p.Pro941=)
n.864_882delinsCGGCCCCCCAGGCCCCCCA (p.Pro288=)
n.4068_4086delinsCGGCCCCCCAGGCCCCCCA (p.Pro1356=)
n.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.45504512G>ACA410499271COL18A1,SLC19A1c.3364G>A (p.Gly1122Ser)
c.2824G>A (p.Gly942Ser)
n.865G>A (p.Gly289Ser)
n.4069G>A (p.Gly1357Ser)
n.498-5900C>T
c.1294-5900C>T (n.1294-5900C>T)
c.4069G>A (p.Gly1357Ser)
c.1585-1543C>T (n.1585-1543C>T)
21g.45504512G>CCA410499272COL18A1,SLC19A1c.3364G>C (p.Gly1122Arg)
c.2824G>C (p.Gly942Arg)
n.865G>C (p.Gly289Arg)
n.4069G>C (p.Gly1357Arg)
n.498-5900C>G
c.1294-5900C>G (n.1294-5900C>G)
c.4069G>C (p.Gly1357Arg)
c.1585-1543C>G (n.1585-1543C>G)
21g.45504512G=CA2392190740COL18A1,SLC19A1c.3364G= (p.Gly1122=)
c.2824G= (p.Gly942=)
n.865G= (p.Gly289=)
n.4069G= (p.Gly1357=)
n.498-5900C=
c.1294-5900C= (n.1294-5900C=)
c.4069G= (p.Gly1357=)
c.1585-1543C= (n.1585-1543C=)
21g.45504512G>TCA410499273COL18A1,SLC19A1c.3364G>T (p.Gly1122Cys)
c.2824G>T (p.Gly942Cys)
n.865G>T (p.Gly289Cys)
n.4069G>T (p.Gly1357Cys)
n.498-5900C>A
c.1294-5900C>A (n.1294-5900C>A)
c.4069G>T (p.Gly1357Cys)
c.1585-1543C>A (n.1585-1543C>A)
21g.45504512_45504513delCA10067493COL18A1,SLC19A1c.3364_3365del (p.Gly1122ProfsTer?)
c.2824_2825del (p.Gly942ProfsTer?)
n.865_866del (p.Gly289ProfsTer?)
n.4069_4070del (p.Gly1357ProfsTer?)
n.498-5901_498-5900del
c.1294-5901_1294-5900del (n.1294-5901_1294-5900del)
c.4069_4070del (p.Gly1357ProfsTer?)
c.1585-1544_1585-1543del (n.1585-1544_1585-1543del)
dbSNP ExAC gnomAD
21g.45504512_45504519delinsGGCCCCCCCA2392190738COL18A1,SLC19A1c.3364_3371delinsGGCCCCCC (p.Gly1122=)
c.2824_2831delinsGGCCCCCC (p.Gly942=)
n.865_872delinsGGCCCCCC (p.Gly289=)
n.4069_4076delinsGGCCCCCC (p.Gly1357=)
n.498-5907_498-5900delinsGGGGGGCC
c.1294-5907_1294-5900delinsGGGGGGCC (n.1294-5907_1294-5900delinsGGGGGGCC)
c.4069_4076delinsGGCCCCCC (p.Gly1357=)
c.1585-1550_1585-1543delinsGGGGGGCC (n.1585-1550_1585-1543delinsGGGGGGCC)
21g.45504512_45504520delinsGGCCCCCCACA2392190741COL18A1,SLC19A1c.3364_3372delinsGGCCCCCCA (p.Gly1122=)
c.2824_2832delinsGGCCCCCCA (p.Gly942=)
n.865_873delinsGGCCCCCCA (p.Gly289=)
n.4069_4077delinsGGCCCCCCA (p.Gly1357=)
n.498-5908_498-5900delinsTGGGGGGCC
c.1294-5908_1294-5900delinsTGGGGGGCC (n.1294-5908_1294-5900delinsTGGGGGGCC)
c.4069_4077delinsGGCCCCCCA (p.Gly1357=)
c.1585-1551_1585-1543delinsTGGGGGGCC (n.1585-1551_1585-1543delinsTGGGGGGCC)
21g.45504512_45504529delinsGGCCCCCCAGGCCCCCCACA2392190739COL18A1,SLC19A1c.3364_3381delinsGGCCCCCCAGGCCCCCCA (p.Gly1122=)
c.2824_2841delinsGGCCCCCCAGGCCCCCCA (p.Gly942=)
n.865_882delinsGGCCCCCCAGGCCCCCCA (p.Gly289=)
n.4069_4086delinsGGCCCCCCAGGCCCCCCA (p.Gly1357=)
n.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)
n.879_887del (p.Pro294_Pro296del)
n.4083_4091del (p.Pro1362_Pro1364del)
n.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 dbSNP ExAC gnomAD COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
21g.45504517_45504534delCA10067492COL18A1,SLC19A1c.3369_3386del (p.Pro1124_Pro1129del)
c.2829_2846del (p.Pro944_Pro949del)
n.870_887del (p.Pro291_Pro296del)
n.4074_4091del (p.Pro1359_Pro1364del)
n.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 dbSNP ExAC gnomAD
21g.45504513G>ACA410499276COL18A1,SLC19A1c.3365G>A (p.Gly1122Asp)
c.2825G>A (p.Gly942Asp)
n.866G>A (p.Gly289Asp)
n.4070G>A (p.Gly1357Asp)
n.498-5901C>T
c.1294-5901C>T (n.1294-5901C>T)
c.4070G>A (p.Gly1357Asp)
c.1585-1544C>T (n.1585-1544C>T)
21g.45504513G>CCA410499275COL18A1,SLC19A1c.3365G>C (p.Gly1122Ala)
c.2825G>C (p.Gly942Ala)
n.866G>C (p.Gly289Ala)
n.4070G>C (p.Gly1357Ala)
n.498-5901C>G
c.1294-5901C>G (n.1294-5901C>G)
c.4070G>C (p.Gly1357Ala)
c.1585-1544C>G (n.1585-1544C>G)
21g.45504513G=CA2392190743COL18A1,SLC19A1c.3365G= (p.Gly1122=)
c.2825G= (p.Gly942=)
n.866G= (p.Gly289=)
n.4070G= (p.Gly1357=)
n.498-5901C=
c.1294-5901C= (n.1294-5901C=)
c.4070G= (p.Gly1357=)
c.1585-1544C= (n.1585-1544C=)
21g.45504513G>TCA410499274COL18A1,SLC19A1c.3365G>T (p.Gly1122Val)
c.2825G>T (p.Gly942Val)
n.866G>T (p.Gly289Val)
n.4070G>T (p.Gly1357Val)
n.498-5901C>A
c.1294-5901C>A (n.1294-5901C>A)
c.4070G>T (p.Gly1357Val)
c.1585-1544C>A (n.1585-1544C>A)
21g.45504513_45504514delinsGCCA2392190742COL18A1,SLC19A1c.3365_3366delinsGC (p.Gly1122=)
c.2825_2826delinsGC (p.Gly942=)
n.866_867delinsGC (p.Gly289=)
n.4070_4071delinsGC (p.Gly1357=)
n.498-5902_498-5901delinsGC
c.1294-5902_1294-5901delinsGC (n.1294-5902_1294-5901delinsGC)
c.4070_4071delinsGC (p.Gly1357=)
c.1585-1545_1585-1544delinsGC (n.1585-1545_1585-1544delinsGC)
21g.45504513_45504519delCA1022823867COL18A1,SLC19A1c.3365_3371del (p.Gly1122GlufsTer?)
c.2825_2831del (p.Gly942GlufsTer?)
n.866_872del (p.Gly289GlufsTer?)
n.4070_4076del (p.Gly1357GlufsTer?)
n.498-5907_498-5901del
c.1294-5907_1294-5901del (n.1294-5907_1294-5901del)
c.4070_4076del (p.Gly1357GlufsTer?)
c.1585-1550_1585-1544del (n.1585-1550_1585-1544del)
dbSNP
21g.45504514_45504521delCA10067494COL18A1,SLC19A1c.3366_3373del (p.Gly1125ArgfsTer?)
c.2826_2833del (p.Gly945ArgfsTer?)
n.867_874del (p.Gly292ArgfsTer?)
n.4071_4078del (p.Gly1360ArgfsTer?)
n.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
21g.45504514_45504530delCA1022823871COL18A1,SLC19A1c.3366_3382del (p.Pro1124ThrfsTer?)
c.2826_2842del (p.Pro944ThrfsTer?)
n.867_883del (p.Pro291ThrfsTer?)
n.4071_4087del (p.Pro1359ThrfsTer?)
n.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
21g.45504514C>ACA512687169COL18A1,SLC19A1c.3366C>A (p.Gly1122=)
c.2826C>A (p.Gly942=)
n.867C>A (p.Gly289=)
n.4071C>A (p.Gly1357=)
n.498-5902G>T
c.1294-5902G>T (n.1294-5902G>T)
c.4071C>A (p.Gly1357=)
c.1585-1545G>T (n.1585-1545G>T)
21g.45504514C>GCA512687171COL18A1,SLC19A1c.3366C>G (p.Gly1122=)
c.2826C>G (p.Gly942=)
n.867C>G (p.Gly289=)
n.4071C>G (p.Gly1357=)
n.498-5902G>C
c.1294-5902G>C (n.1294-5902G>C)
c.4071C>G (p.Gly1357=)
c.1585-1545G>C (n.1585-1545G>C)
21g.45504514C>TCA512687170COL18A1,SLC19A1c.3366C>T (p.Gly1122=)
c.2826C>T (p.Gly942=)
n.867C>T (p.Gly289=)
n.4071C>T (p.Gly1357=)
n.498-5902G>A
c.1294-5902G>A (n.1294-5902G>A)
c.4071C>T (p.Gly1357=)
c.1585-1545G>A (n.1585-1545G>A)
21g.45504519delCA2392190744COL18A1,SLC19A1c.3371del (p.Pro1124GlnfsTer?)
c.2831del (p.Pro944GlnfsTer?)
n.872del (p.Pro291GlnfsTer?)
n.4076del (p.Pro1359GlnfsTer?)
n.498-5902del
c.1294-5902del (n.1294-5902del)
c.4076del (p.Pro1359GlnfsTer?)
c.1585-1545del (n.1585-1545del)
dbSNP
21g.45504514_45504520delinsCCCCCCACA2392190747COL18A1,SLC19A1c.3366_3372delinsCCCCCCA (p.Gly1122=)
c.2826_2832delinsCCCCCCA (p.Gly942=)
n.867_873delinsCCCCCCA (p.Gly289=)
n.4071_4077delinsCCCCCCA (p.Gly1357=)
n.498-5908_498-5902delinsTGGGGGG
c.1294-5908_1294-5902delinsTGGGGGG (n.1294-5908_1294-5902delinsTGGGGGG)
c.4071_4077delinsCCCCCCA (p.Gly1357=)
c.1585-1551_1585-1545delinsTGGGGGG (n.1585-1551_1585-1545delinsTGGGGGG)
21g.45504514_45504522delinsCCCCCCAGGCA2392190746COL18A1,SLC19A1c.3366_3374delinsCCCCCCAGG (p.Gly1122=)
c.2826_2834delinsCCCCCCAGG (p.Gly942=)
n.867_875delinsCCCCCCAGG (p.Gly289=)
n.4071_4079delinsCCCCCCAGG (p.Gly1357=)
n.498-5910_498-5902delinsCCTGGGGGG
c.1294-5910_1294-5902delinsCCTGGGGGG (n.1294-5910_1294-5902delinsCCTGGGGGG)
c.4071_4079delinsCCCCCCAGG (p.Gly1357=)
c.1585-1553_1585-1545delinsCCTGGGGGG (n.1585-1553_1585-1545delinsCCTGGGGGG)
21g.45504514_45504529delinsCCCCCCAGGCCCCCCACA2392190745COL18A1,SLC19A1c.3366_3381delinsCCCCCCAGGCCCCCCA (p.Gly1122=)
c.2826_2841delinsCCCCCCAGGCCCCCCA (p.Gly942=)
n.867_882delinsCCCCCCAGGCCCCCCA (p.Gly289=)
n.4071_4086delinsCCCCCCAGGCCCCCCA (p.Gly1357=)
n.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.45504515C>ACA410499277COL18A1,SLC19A1c.3367C>A (p.Pro1123Thr)
c.2827C>A (p.Pro943Thr)
n.868C>A (p.Pro290Thr)
n.4072C>A (p.Pro1358Thr)
n.498-5903G>T
c.1294-5903G>T (n.1294-5903G>T)
c.4072C>A (p.Pro1358Thr)
c.1585-1546G>T (n.1585-1546G>T)
21g.45504515C=CA2392190749COL18A1,SLC19A1c.3367C= (p.Pro1123=)
c.2827C= (p.Pro943=)
n.868C= (p.Pro290=)
n.4072C= (p.Pro1358=)
n.498-5903G=
c.1294-5903G= (n.1294-5903G=)
c.4072C= (p.Pro1358=)
c.1585-1546G= (n.1585-1546G=)
21g.45504515C>GCA410499278COL18A1,SLC19A1c.3367C>G (p.Pro1123Ala)
c.2827C>G (p.Pro943Ala)
n.868C>G (p.Pro290Ala)
n.4072C>G (p.Pro1358Ala)
n.498-5903G>C
c.1294-5903G>C (n.1294-5903G>C)
c.4072C>G (p.Pro1358Ala)
c.1585-1546G>C (n.1585-1546G>C)
21g.45504515C>TCA410499279COL18A1,SLC19A1c.3367C>T (p.Pro1123Ser)
c.2827C>T (p.Pro943Ser)
n.868C>T (p.Pro290Ser)
n.4072C>T (p.Pro1358Ser)
n.498-5903G>A
c.1294-5903G>A (n.1294-5903G>A)
c.4072C>T (p.Pro1358Ser)
c.1585-1546G>A (n.1585-1546G>A)

Number of alleles fetched