Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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.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.45504504_45504505delinsGCCA2392190722COL18A1,SLC19A1c.3356_3357delinsGC (p.Gly1119=)
c.2816_2817delinsGC (p.Gly939=)
c.857_858delinsGC (p.Gly286=)
c.4061_4062delinsGC (p.Gly1354=)
c.498-5893_498-5892delinsGC
c.1294-5893_1294-5892delinsGC (n.1294-5893_1294-5892delinsGC)
c.1585-1536_1585-1535delinsGC (n.1585-1536_1585-1535delinsGC)
21g.45504505_45504512delCA2654918203COL18A1,SLC19A1c.3357_3364del (p.Gly1122ArgfsTer?)
c.2817_2824del (p.Gly942ArgfsTer?)
c.858_865del (p.Gly289ArgfsTer?)
c.4062_4069del (p.Gly1357ArgfsTer?)
c.498-5899_498-5892del
c.1294-5899_1294-5892del (n.1294-5899_1294-5892del)
c.1585-1542_1585-1535del (n.1585-1542_1585-1535del)
 gnomAD v4
21g.45504505C>ACA512687161COL18A1,SLC19A1c.3357C>A (p.Gly1119=)
c.2817C>A (p.Gly939=)
c.858C>A (p.Gly286=)
c.4062C>A (p.Gly1354=)
c.498-5893G>T
c.1294-5893G>T (n.1294-5893G>T)
c.1585-1536G>T (n.1585-1536G>T)
 gnomAD v4
21g.45504505C=CA2392190725COL18A1,SLC19A1c.3357C= (p.Gly1119=)
c.2817C= (p.Gly939=)
c.858C= (p.Gly286=)
c.4062C= (p.Gly1354=)
c.498-5893G=
c.1294-5893G= (n.1294-5893G=)
c.1585-1536G= (n.1585-1536G=)
21g.45504505C>GCA512687162COL18A1,SLC19A1c.3357C>G (p.Gly1119=)
c.2817C>G (p.Gly939=)
c.858C>G (p.Gly286=)
c.4062C>G (p.Gly1354=)
c.498-5893G>C
c.1294-5893G>C (n.1294-5893G>C)
c.1585-1536G>C (n.1585-1536G>C)
21g.45504505C>TCA321921213COL18A1,SLC19A1c.3357C>T (p.Gly1119=)
c.2817C>T (p.Gly939=)
c.858C>T (p.Gly286=)
c.4062C>T (p.Gly1354=)
c.498-5893G>A
c.1294-5893G>A (n.1294-5893G>A)
c.1585-1536G>A (n.1585-1536G>A)
 ClinVar dbSNP gnomAD v4
21g.45504511dupCA10575533COL18A1,SLC19A1c.3363dup (p.Gly1122ArgfsTer?)
c.2823dup (p.Gly942ArgfsTer?)
c.864dup (p.Gly289ArgfsTer?)
c.4068dup (p.Gly1357ArgfsTer?)
c.498-5893dup
c.1294-5893dup (n.1294-5893dup)
c.1585-1536dup (n.1585-1536dup)
 ClinVar dbSNP
21g.45504511delCA10067483COL18A1,SLC19A1c.3363del (p.Gly1122AlafsTer?)
c.2823del (p.Gly942AlafsTer?)
c.864del (p.Gly289AlafsTer?)
c.4068del (p.Gly1357AlafsTer?)
c.498-5893del
c.1294-5893del (n.1294-5893del)
c.1585-1536del (n.1585-1536del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504505_45504513delinsCCCCCCCGGCA2392190724COL18A1,SLC19A1c.3357_3365delinsCCCCCCCGG (p.Gly1119=)
c.2817_2825delinsCCCCCCCGG (p.Gly939=)
c.858_866delinsCCCCCCCGG (p.Gly286=)
c.4062_4070delinsCCCCCCCGG (p.Gly1354=)
c.498-5901_498-5893delinsCCGGGGGGG
c.1294-5901_1294-5893delinsCCGGGGGGG (n.1294-5901_1294-5893delinsCCGGGGGGG)
c.1585-1544_1585-1536delinsCCGGGGGGG (n.1585-1544_1585-1536delinsCCGGGGGGG)
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.45504506C>ACA10067487COL18A1,SLC19A1c.3358C>A (p.Pro1120Thr)
c.2818C>A (p.Pro940Thr)
c.859C>A (p.Pro287Thr)
c.4063C>A (p.Pro1355Thr)
c.498-5894G>T
c.1294-5894G>T (n.1294-5894G>T)
c.1585-1537G>T (n.1585-1537G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504506C=CA2392190727COL18A1,SLC19A1c.3358C= (p.Pro1120=)
c.2818C= (p.Pro940=)
c.859C= (p.Pro287=)
c.4063C= (p.Pro1355=)
c.498-5894G=
c.1294-5894G= (n.1294-5894G=)
c.1585-1537G= (n.1585-1537G=)
21g.45504506C>GCA410499266COL18A1,SLC19A1c.3358C>G (p.Pro1120Ala)
c.2818C>G (p.Pro940Ala)
c.859C>G (p.Pro287Ala)
c.4063C>G (p.Pro1355Ala)
c.498-5894G>C
c.1294-5894G>C (n.1294-5894G>C)
c.1585-1537G>C (n.1585-1537G>C)
 dbSNP
21g.45504506C>TCA410499265COL18A1,SLC19A1c.3358C>T (p.Pro1120Ser)
c.2818C>T (p.Pro940Ser)
c.859C>T (p.Pro287Ser)
c.4063C>T (p.Pro1355Ser)
c.498-5894G>A
c.1294-5894G>A (n.1294-5894G>A)
c.1585-1537G>A (n.1585-1537G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45504506_45504512delCA2654918235COL18A1,SLC19A1c.3358_3364del (p.Pro1120AlafsTer?)
c.2818_2824del (p.Pro940AlafsTer?)
c.859_865del (p.Pro287AlafsTer?)
c.4063_4069del (p.Pro1355AlafsTer?)
c.498-5900_498-5894del
c.1294-5900_1294-5894del (n.1294-5900_1294-5894del)
c.1585-1543_1585-1537del (n.1585-1543_1585-1537del)
 gnomAD v4
21g.45504506_45504512delinsCCCCCCGCA2392190726COL18A1,SLC19A1c.3358_3364delinsCCCCCCG (p.Pro1120=)
c.2818_2824delinsCCCCCCG (p.Pro940=)
c.859_865delinsCCCCCCG (p.Pro287=)
c.4063_4069delinsCCCCCCG (p.Pro1355=)
c.498-5900_498-5894delinsCGGGGGG
c.1294-5900_1294-5894delinsCGGGGGG (n.1294-5900_1294-5894delinsCGGGGGG)
c.1585-1543_1585-1537delinsCGGGGGG (n.1585-1543_1585-1537delinsCGGGGGG)
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.45504507C>ACA410499267COL18A1,SLC19A1c.3359C>A (p.Pro1120His)
c.2819C>A (p.Pro940His)
c.860C>A (p.Pro287His)
c.4064C>A (p.Pro1355His)
c.498-5895G>T
c.1294-5895G>T (n.1294-5895G>T)
c.1585-1538G>T (n.1585-1538G>T)
 dbSNP gnomAD v2 gnomAD v4
21g.45504507C=CA2392190728COL18A1,SLC19A1c.3359C= (p.Pro1120=)
c.2819C= (p.Pro940=)
c.860C= (p.Pro287=)
c.4064C= (p.Pro1355=)
c.498-5895G=
c.1294-5895G= (n.1294-5895G=)
c.1585-1538G= (n.1585-1538G=)
21g.45504507C>GCA10067488COL18A1,SLC19A1c.3359C>G (p.Pro1120Arg)
c.2819C>G (p.Pro940Arg)
c.860C>G (p.Pro287Arg)
c.4064C>G (p.Pro1355Arg)
c.498-5895G>C
c.1294-5895G>C (n.1294-5895G>C)
c.1585-1538G>C (n.1585-1538G>C)
 ClinVar dbSNP ExAC gnomAD v2
21g.45504507C>TCA10067489COL18A1,SLC19A1c.3359C>T (p.Pro1120Leu)
c.2819C>T (p.Pro940Leu)
c.860C>T (p.Pro287Leu)
c.4064C>T (p.Pro1355Leu)
c.498-5895G>A
c.1294-5895G>A (n.1294-5895G>A)
c.1585-1538G>A (n.1585-1538G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504507_45504512delCA10067486COL18A1,SLC19A1c.3359_3364del (p.Pro1120_Gly1122delinsArg)
c.2819_2824del (p.Pro940_Gly942delinsArg)
c.860_865del (p.Pro287_Gly289delinsArg)
c.4064_4069del (p.Pro1355_Gly1357delinsArg)
c.498-5900_498-5895del
c.1294-5900_1294-5895del (n.1294-5900_1294-5895del)
c.1585-1543_1585-1538del (n.1585-1543_1585-1538del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45504508C>ACA512687163COL18A1,SLC19A1c.3360C>A (p.Pro1120=)
c.2820C>A (p.Pro940=)
c.861C>A (p.Pro287=)
c.4065C>A (p.Pro1355=)
c.498-5896G>T
c.1294-5896G>T (n.1294-5896G>T)
c.1585-1539G>T (n.1585-1539G>T)
 gnomAD v2 gnomAD v4
21g.45504508C=CA2392190730COL18A1,SLC19A1c.3360C= (p.Pro1120=)
c.2820C= (p.Pro940=)
c.861C= (p.Pro287=)
c.4065C= (p.Pro1355=)
c.498-5896G=
c.1294-5896G= (n.1294-5896G=)
c.1585-1539G= (n.1585-1539G=)
21g.45504508C>GCA512687164COL18A1,SLC19A1c.3360C>G (p.Pro1120=)
c.2820C>G (p.Pro940=)
c.861C>G (p.Pro287=)
c.4065C>G (p.Pro1355=)
c.498-5896G>C
c.1294-5896G>C (n.1294-5896G>C)
c.1585-1539G>C (n.1585-1539G>C)
21g.45504508C>TCA512687165COL18A1,SLC19A1c.3360C>T (p.Pro1120=)
c.2820C>T (p.Pro940=)
c.861C>T (p.Pro287=)
c.4065C>T (p.Pro1355=)
c.498-5896G>A
c.1294-5896G>A (n.1294-5896G>A)
c.1585-1539G>A (n.1585-1539G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.45504508_45504512delinsCCCCGCA2392190729COL18A1,SLC19A1c.3360_3364delinsCCCCG (p.Pro1120=)
c.2820_2824delinsCCCCG (p.Pro940=)
c.861_865delinsCCCCG (p.Pro287=)
c.4065_4069delinsCCCCG (p.Pro1355=)
c.498-5900_498-5896delinsCGGGG
c.1294-5900_1294-5896delinsCGGGG (n.1294-5900_1294-5896delinsCGGGG)
c.1585-1543_1585-1539delinsCGGGG (n.1585-1543_1585-1539delinsCGGGG)
21g.45504509C>ACA410499268COL18A1,SLC19A1c.3361C>A (p.Pro1121Thr)
c.2821C>A (p.Pro941Thr)
c.862C>A (p.Pro288Thr)
c.4066C>A (p.Pro1356Thr)
c.498-5897G>T
c.1294-5897G>T (n.1294-5897G>T)
c.1585-1540G>T (n.1585-1540G>T)
 dbSNP gnomAD v4
21g.45504509C=CA2392190732COL18A1,SLC19A1c.3361C= (p.Pro1121=)
c.2821C= (p.Pro941=)
c.862C= (p.Pro288=)
c.4066C= (p.Pro1356=)
c.498-5897G=
c.1294-5897G= (n.1294-5897G=)
c.1585-1540G= (n.1585-1540G=)
21g.45504509C>GCA321921214COL18A1,SLC19A1c.3361C>G (p.Pro1121Ala)
c.2821C>G (p.Pro941Ala)
c.862C>G (p.Pro288Ala)
c.4066C>G (p.Pro1356Ala)
c.498-5897G>C
c.1294-5897G>C (n.1294-5897G>C)
c.1585-1540G>C (n.1585-1540G>C)
 ClinVar dbSNP
21g.45504509C>TCA321921215COL18A1,SLC19A1c.3361C>T (p.Pro1121Ser)
c.2821C>T (p.Pro941Ser)
c.862C>T (p.Pro288Ser)
c.4066C>T (p.Pro1356Ser)
c.498-5897G>A
c.1294-5897G>A (n.1294-5897G>A)
c.1585-1540G>A (n.1585-1540G>A)
 dbSNP gnomAD v3 gnomAD v4
21g.45504509_45504512delCA10067490COL18A1,SLC19A1c.3361_3364del (p.Pro1121AlafsTer?)
c.2821_2824del (p.Pro941AlafsTer?)
c.862_865del (p.Pro288AlafsTer?)
c.4066_4069del (p.Pro1356AlafsTer?)
c.498-5900_498-5897del
c.1294-5900_1294-5897del (n.1294-5900_1294-5897del)
c.1585-1543_1585-1540del (n.1585-1543_1585-1540del)
 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.45504510C>ACA410499269COL18A1,SLC19A1c.3362C>A (p.Pro1121His)
c.2822C>A (p.Pro941His)
c.863C>A (p.Pro288His)
c.4067C>A (p.Pro1356His)
c.498-5898G>T
c.1294-5898G>T (n.1294-5898G>T)
c.1585-1541G>T (n.1585-1541G>T)
 dbSNP gnomAD v2 gnomAD v4
21g.45504510C=CA2392190733COL18A1,SLC19A1c.3362C= (p.Pro1121=)
c.2822C= (p.Pro941=)
c.863C= (p.Pro288=)
c.4067C= (p.Pro1356=)
c.498-5898G=
c.1294-5898G= (n.1294-5898G=)
c.1585-1541G= (n.1585-1541G=)
21g.45504510C>GCA410499270COL18A1,SLC19A1c.3362C>G (p.Pro1121Arg)
c.2822C>G (p.Pro941Arg)
c.863C>G (p.Pro288Arg)
c.4067C>G (p.Pro1356Arg)
c.498-5898G>C
c.1294-5898G>C (n.1294-5898G>C)
c.1585-1541G>C (n.1585-1541G>C)
 ClinVar dbSNP
21g.45504510C>TCA321921216COL18A1,SLC19A1c.3362C>T (p.Pro1121Leu)
c.2822C>T (p.Pro941Leu)
c.863C>T (p.Pro288Leu)
c.4067C>T (p.Pro1356Leu)
c.498-5898G>A
c.1294-5898G>A (n.1294-5898G>A)
c.1585-1541G>A (n.1585-1541G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
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.45504511C>ACA10644821COL18A1,SLC19A1c.3363C>A (p.Pro1121=)
c.2823C>A (p.Pro941=)
c.864C>A (p.Pro288=)
c.4068C>A (p.Pro1356=)
c.498-5899G>T
c.1294-5899G>T (n.1294-5899G>T)
c.1585-1542G>T (n.1585-1542G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.45504511C=CA2392190737COL18A1,SLC19A1c.3363C= (p.Pro1121=)
c.2823C= (p.Pro941=)
c.864C= (p.Pro288=)
c.4068C= (p.Pro1356=)
c.498-5899G=
c.1294-5899G= (n.1294-5899G=)
c.1585-1542G= (n.1585-1542G=)
21g.45504511C>GCA512687166COL18A1,SLC19A1c.3363C>G (p.Pro1121=)
c.2823C>G (p.Pro941=)
c.864C>G (p.Pro288=)
c.4068C>G (p.Pro1356=)
c.498-5899G>C
c.1294-5899G>C (n.1294-5899G>C)
c.1585-1542G>C (n.1585-1542G>C)

Number of alleles fetched