| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45504494_45504512delinsAGCCTGCCCGGCCCCCCCG | CA2392190710 | COL18A1,SLC19A1 | c.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) | |
| 21 | g.45504498_45504515del | CA749787629 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45504511_45504519del | CA10067477 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45504502_45504520delinsCGGCCCCCCCGGCCCCCCA | CA2392190720 | COL18A1,SLC19A1 | c.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) | |
| 21 | g.45504511_45504528del | CA10067480 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45504505_45504512del | CA2654918203 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45504505_45504513delinsCCCCCCCGG | CA2392190724 | COL18A1,SLC19A1 | c.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) | |
| 21 | g.45504505_45504522delinsCCCCCCCGGCCCCCCAGG | CA2392190723 | COL18A1,SLC19A1 | c.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) | |
| 21 | g.45504506_45504512del | CA2654918235 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45504506_45504512delinsCCCCCCG | CA2392190726 | COL18A1,SLC19A1 | c.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) | |
| 21 | g.45504512_45504519del | CA10067484 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45504512_45504528del | CA10067485 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45504507_45504512del | CA10067486 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45504508_45504512delinsCCCCG | CA2392190729 | COL18A1,SLC19A1 | c.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) | |
| 21 | g.45504509_45504512del | CA10067490 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45504509_45504520delinsCCCGGCCCCCCA | CA2392190731 | COL18A1,SLC19A1 | c.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) | |
| 21 | g.45504510_45504520del | CA638497337 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45504510_45504520delinsCCGGCCCCCCA | CA2392190734 | COL18A1,SLC19A1 | c.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) | |
| 21 | g.45504511_45504513delinsCGG | CA2392190736 | COL18A1,SLC19A1 | c.3363_3365delinsCGG (p.Pro1121=) c.2823_2825delinsCGG (p.Pro941=) c.864_866delinsCGG (p.Pro288=) c.4068_4070delinsCGG (p.Pro1356=) c.498-5901_498-5899delinsCCG c.1294-5901_1294-5899delinsCCG (n.1294-5901_1294-5899delinsCCG) c.1585-1544_1585-1542delinsCCG (n.1585-1544_1585-1542delinsCCG) | |
| 21 | g.45504511_45504520del | CA512687168 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45504511_45504520delinsT | CA2987778627 | COL18A1,SLC19A1 | c.3363_3372delinsT (p.Gly1122_Pro1124del) c.2823_2832delinsT (p.Gly942_Pro944del) c.864_873delinsT (p.Gly289_Pro291del) c.4068_4077delinsT (p.Gly1357_Pro1359del) c.498-5908_498-5899delinsA c.1294-5908_1294-5899delinsA (n.1294-5908_1294-5899delinsA) c.1585-1551_1585-1542delinsA (n.1585-1551_1585-1542delinsA) | |
| 21 | g.45504511_45504520delinsCGGCCCCCCA | CA2497029955 | COL18A1,SLC19A1 | c.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) | |
| 21 | g.45504511_45504529del | CA638497338 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45504511_45504529delinsCGGCCCCCCAGGCCCCCCA | CA2392190735 | COL18A1,SLC19A1 | c.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) | |
| 21 | g.45504512G>A | CA410499271 | COL18A1,SLC19A1 | c.3364G>A (p.Gly1122Ser) c.2824G>A (p.Gly942Ser) c.865G>A (p.Gly289Ser) c.4069G>A (p.Gly1357Ser) c.498-5900C>T c.1294-5900C>T (n.1294-5900C>T) c.1585-1543C>T (n.1585-1543C>T) | dbSNP |
| 21 | g.45504512G>C | CA410499272 | COL18A1,SLC19A1 | c.3364G>C (p.Gly1122Arg) c.2824G>C (p.Gly942Arg) c.865G>C (p.Gly289Arg) c.4069G>C (p.Gly1357Arg) c.498-5900C>G c.1294-5900C>G (n.1294-5900C>G) c.1585-1543C>G (n.1585-1543C>G) | gnomAD v4 |
| 21 | g.45504512G= | CA2392190740 | COL18A1,SLC19A1 | c.3364G= (p.Gly1122=) c.2824G= (p.Gly942=) c.865G= (p.Gly289=) c.4069G= (p.Gly1357=) c.498-5900C= c.1294-5900C= (n.1294-5900C=) c.1585-1543C= (n.1585-1543C=) | |
| 21 | g.45504512G>T | CA410499273 | COL18A1,SLC19A1 | c.3364G>T (p.Gly1122Cys) c.2824G>T (p.Gly942Cys) c.865G>T (p.Gly289Cys) c.4069G>T (p.Gly1357Cys) c.498-5900C>A c.1294-5900C>A (n.1294-5900C>A) c.1585-1543C>A (n.1585-1543C>A) | |
| 21 | g.45504512_45504513del | CA10067493 | COL18A1,SLC19A1 | c.3364_3365del (p.Gly1122ProfsTer?) c.2824_2825del (p.Gly942ProfsTer?) c.865_866del (p.Gly289ProfsTer?) c.4069_4070del (p.Gly1357ProfsTer?) c.498-5901_498-5900del c.1294-5901_1294-5900del (n.1294-5901_1294-5900del) c.1585-1544_1585-1543del (n.1585-1544_1585-1543del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45504512_45504519delinsGGCCCCCC | CA2392190738 | COL18A1,SLC19A1 | c.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) | |
| 21 | g.45504512_45504520delinsGGCCCCCCA | CA2392190741 | COL18A1,SLC19A1 | c.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) | |
| 21 | g.45504513_45504522del | CA2577627023 | COL18A1,SLC19A1 | c.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) | |
| 21 | g.45504512_45504529delinsGGCCCCCCAGGCCCCCCA | CA2392190739 | COL18A1,SLC19A1 | c.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) | |
| 21 | g.45504526_45504534dup | CA2987778631 | COL18A1,SLC19A1 | c.3378_3386dup (p.Pro1129_Arg1130insProGlyPro) c.2838_2846dup (p.Pro949_Arg950insProGlyPro) c.879_887dup (p.Pro296_Arg297insProGlyPro) c.4083_4091dup (p.Pro1364_Arg1365insProGlyPro) c.498-5908_498-5900dup c.1294-5908_1294-5900dup (n.1294-5908_1294-5900dup) c.1585-1551_1585-1543dup (n.1585-1551_1585-1543dup) | |
| 21 | g.45504526_45504534del | CA10067491 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45504517_45504534del | CA10067492 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45504513G>A | CA410499276 | COL18A1,SLC19A1 | c.3365G>A (p.Gly1122Asp) c.2825G>A (p.Gly942Asp) c.866G>A (p.Gly289Asp) c.4070G>A (p.Gly1357Asp) c.498-5901C>T c.1294-5901C>T (n.1294-5901C>T) c.1585-1544C>T (n.1585-1544C>T) | |
| 21 | g.45504513G>C | CA410499275 | COL18A1,SLC19A1 | c.3365G>C (p.Gly1122Ala) c.2825G>C (p.Gly942Ala) c.866G>C (p.Gly289Ala) c.4070G>C (p.Gly1357Ala) c.498-5901C>G c.1294-5901C>G (n.1294-5901C>G) c.1585-1544C>G (n.1585-1544C>G) | |
| 21 | g.45504513G= | CA2392190743 | COL18A1,SLC19A1 | c.3365G= (p.Gly1122=) c.2825G= (p.Gly942=) c.866G= (p.Gly289=) c.4070G= (p.Gly1357=) c.498-5901C= c.1294-5901C= (n.1294-5901C=) c.1585-1544C= (n.1585-1544C=) | |
| 21 | g.45504513G>T | CA410499274 | COL18A1,SLC19A1 | c.3365G>T (p.Gly1122Val) c.2825G>T (p.Gly942Val) c.866G>T (p.Gly289Val) c.4070G>T (p.Gly1357Val) c.498-5901C>A c.1294-5901C>A (n.1294-5901C>A) c.1585-1544C>A (n.1585-1544C>A) | dbSNP |
| 21 | g.45504513_45504514delinsGC | CA2392190742 | COL18A1,SLC19A1 | c.3365_3366delinsGC (p.Gly1122=) c.2825_2826delinsGC (p.Gly942=) c.866_867delinsGC (p.Gly289=) c.4070_4071delinsGC (p.Gly1357=) c.498-5902_498-5901delinsGC c.1294-5902_1294-5901delinsGC (n.1294-5902_1294-5901delinsGC) c.1585-1545_1585-1544delinsGC (n.1585-1545_1585-1544delinsGC) | |
| 21 | g.45504513_45504519del | CA1022823867 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45504514_45504521del | CA10067494 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45504514_45504530del | CA1022823871 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45504513_45504514insGCT | CA2654918347 | COL18A1,SLC19A1 | c.3365_3366insGCT (p.Gly1122_Pro1123insLeu) c.2825_2826insGCT (p.Gly942_Pro943insLeu) c.866_867insGCT (p.Gly289_Pro290insLeu) c.4070_4071insGCT (p.Gly1357_Pro1358insLeu) c.498-5902_498-5901insAGC c.1294-5902_1294-5901insAGC (n.1294-5902_1294-5901insAGC) c.1585-1545_1585-1544insAGC (n.1585-1545_1585-1544insAGC) | gnomAD v4 |
| 21 | g.45504514C>A | CA512687169 | COL18A1,SLC19A1 | c.3366C>A (p.Gly1122=) c.2826C>A (p.Gly942=) c.867C>A (p.Gly289=) c.4071C>A (p.Gly1357=) c.498-5902G>T c.1294-5902G>T (n.1294-5902G>T) c.1585-1545G>T (n.1585-1545G>T) | gnomAD v4 |
| 21 | g.45504514C>G | CA512687171 | COL18A1,SLC19A1 | c.3366C>G (p.Gly1122=) c.2826C>G (p.Gly942=) c.867C>G (p.Gly289=) c.4071C>G (p.Gly1357=) c.498-5902G>C c.1294-5902G>C (n.1294-5902G>C) c.1585-1545G>C (n.1585-1545G>C) | |
| 21 | g.45504514C>T | CA512687170 | COL18A1,SLC19A1 | c.3366C>T (p.Gly1122=) c.2826C>T (p.Gly942=) c.867C>T (p.Gly289=) c.4071C>T (p.Gly1357=) c.498-5902G>A c.1294-5902G>A (n.1294-5902G>A) c.1585-1545G>A (n.1585-1545G>A) | |
| 21 | g.45504514_45504519del | CA2654918341 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45504519del | CA2392190744 | COL18A1,SLC19A1 | c.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 |