| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45504425G>A | CA410499109 | COL18A1,SLC19A1 | c.3277G>A (p.Gly1093Arg) c.2737G>A (p.Gly913Arg) c.778G>A (p.Gly260Arg) c.3982G>A (p.Gly1328Arg) c.498-5813C>T c.1294-5813C>T (n.1294-5813C>T) c.1585-1456C>T (n.1585-1456C>T) | |
| 21 | g.45504425G>C | CA410499110 | COL18A1,SLC19A1 | c.3277G>C (p.Gly1093Arg) c.2737G>C (p.Gly913Arg) c.778G>C (p.Gly260Arg) c.3982G>C (p.Gly1328Arg) c.498-5813C>G c.1294-5813C>G (n.1294-5813C>G) c.1585-1456C>G (n.1585-1456C>G) | |
| 21 | g.45504425G>T | CA410499111 | COL18A1,SLC19A1 | c.3277G>T (p.Gly1093Ter) c.2737G>T (p.Gly913Ter) c.778G>T (p.Gly260Ter) c.3982G>T (p.Gly1328Ter) c.498-5813C>A c.1294-5813C>A (n.1294-5813C>A) c.1585-1456C>A (n.1585-1456C>A) | |
| 21 | g.45504426G>A | CA410499112 | COL18A1,SLC19A1 | c.3278G>A (p.Gly1093Glu) c.2738G>A (p.Gly913Glu) c.779G>A (p.Gly260Glu) c.3983G>A (p.Gly1328Glu) c.498-5814C>T c.1294-5814C>T (n.1294-5814C>T) c.1585-1457C>T (n.1585-1457C>T) | gnomAD v4 |
| 21 | g.45504426G>C | CA410499113 | COL18A1,SLC19A1 | c.3278G>C (p.Gly1093Ala) c.2738G>C (p.Gly913Ala) c.779G>C (p.Gly260Ala) c.3983G>C (p.Gly1328Ala) c.498-5814C>G c.1294-5814C>G (n.1294-5814C>G) c.1585-1457C>G (n.1585-1457C>G) | |
| 21 | g.45504426G>T | CA410499114 | COL18A1,SLC19A1 | c.3278G>T (p.Gly1093Val) c.2738G>T (p.Gly913Val) c.779G>T (p.Gly260Val) c.3983G>T (p.Gly1328Val) c.498-5814C>A c.1294-5814C>A (n.1294-5814C>A) c.1585-1457C>A (n.1585-1457C>A) | |
| 21 | g.45504427A>C | CA512687117 | COL18A1,SLC19A1 | c.3279A>C (p.Gly1093=) c.2739A>C (p.Gly913=) c.780A>C (p.Gly260=) c.3984A>C (p.Gly1328=) c.498-5815T>G c.1294-5815T>G (n.1294-5815T>G) c.1585-1458T>G (n.1585-1458T>G) | |
| 21 | g.45504427A>G | CA512687115 | COL18A1,SLC19A1 | c.3279A>G (p.Gly1093=) c.2739A>G (p.Gly913=) c.780A>G (p.Gly260=) c.3984A>G (p.Gly1328=) c.498-5815T>C c.1294-5815T>C (n.1294-5815T>C) c.1585-1458T>C (n.1585-1458T>C) | |
| 21 | g.45504427A>T | CA512687116 | COL18A1,SLC19A1 | c.3279A>T (p.Gly1093=) c.2739A>T (p.Gly913=) c.780A>T (p.Gly260=) c.3984A>T (p.Gly1328=) c.498-5815T>A c.1294-5815T>A (n.1294-5815T>A) c.1585-1458T>A (n.1585-1458T>A) | |
| 21 | g.45504428G>A | CA321921210 | COL18A1,SLC19A1 | c.3280G>A (p.Asp1094Asn) c.2740G>A (p.Asp914Asn) c.781G>A (p.Asp261Asn) c.3985G>A (p.Asp1329Asn) c.498-5816C>T c.1294-5816C>T (n.1294-5816C>T) c.1585-1459C>T (n.1585-1459C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45504428G>C | CA410499116 | COL18A1,SLC19A1 | c.3280G>C (p.Asp1094His) c.2740G>C (p.Asp914His) c.781G>C (p.Asp261His) c.3985G>C (p.Asp1329His) c.498-5816C>G c.1294-5816C>G (n.1294-5816C>G) c.1585-1459C>G (n.1585-1459C>G) | |
| 21 | g.45504428G= | CA2392190665 | COL18A1,SLC19A1 | c.3280G= (p.Asp1094=) c.2740G= (p.Asp914=) c.781G= (p.Asp261=) c.3985G= (p.Asp1329=) c.498-5816C= c.1294-5816C= (n.1294-5816C=) c.1585-1459C= (n.1585-1459C=) | |
| 21 | g.45504428G>T | CA410499115 | COL18A1,SLC19A1 | c.3280G>T (p.Asp1094Tyr) c.2740G>T (p.Asp914Tyr) c.781G>T (p.Asp261Tyr) c.3985G>T (p.Asp1329Tyr) c.498-5816C>A c.1294-5816C>A (n.1294-5816C>A) c.1585-1459C>A (n.1585-1459C>A) | COSMIC COSMIC |
| 21 | g.45504429A>C | CA410499117 | COL18A1,SLC19A1 | c.3281A>C (p.Asp1094Ala) c.2741A>C (p.Asp914Ala) c.782A>C (p.Asp261Ala) c.3986A>C (p.Asp1329Ala) c.498-5817T>G c.1294-5817T>G (n.1294-5817T>G) c.1585-1460T>G (n.1585-1460T>G) | dbSNP |
| 21 | g.45504429A>G | CA410499119 | COL18A1,SLC19A1 | c.3281A>G (p.Asp1094Gly) c.2741A>G (p.Asp914Gly) c.782A>G (p.Asp261Gly) c.3986A>G (p.Asp1329Gly) c.498-5817T>C c.1294-5817T>C (n.1294-5817T>C) c.1585-1460T>C (n.1585-1460T>C) | gnomAD v4 |
| 21 | g.45504429A>T | CA410499118 | COL18A1,SLC19A1 | c.3281A>T (p.Asp1094Val) c.2741A>T (p.Asp914Val) c.782A>T (p.Asp261Val) c.3986A>T (p.Asp1329Val) c.498-5817T>A c.1294-5817T>A (n.1294-5817T>A) c.1585-1460T>A (n.1585-1460T>A) | |
| 21 | g.45504430C>A | CA410499120 | COL18A1,SLC19A1 | c.3282C>A (p.Asp1094Glu) c.2742C>A (p.Asp914Glu) c.783C>A (p.Asp261Glu) c.3987C>A (p.Asp1329Glu) c.498-5818G>T c.1294-5818G>T (n.1294-5818G>T) c.1585-1461G>T (n.1585-1461G>T) | gnomAD v4 |
| 21 | g.45504430C>G | CA410499121 | COL18A1,SLC19A1 | c.3282C>G (p.Asp1094Glu) c.2742C>G (p.Asp914Glu) c.783C>G (p.Asp261Glu) c.3987C>G (p.Asp1329Glu) c.498-5818G>C c.1294-5818G>C (n.1294-5818G>C) c.1585-1461G>C (n.1585-1461G>C) | |
| 21 | g.45504430C>T | CA512687118 | COL18A1,SLC19A1 | c.3282C>T (p.Asp1094=) c.2742C>T (p.Asp914=) c.783C>T (p.Asp261=) c.3987C>T (p.Asp1329=) c.498-5818G>A c.1294-5818G>A (n.1294-5818G>A) c.1585-1461G>A (n.1585-1461G>A) | |
| 21 | g.45504431C>A | CA512687119 | COL18A1,SLC19A1 | c.3283C>A (p.Arg1095=) c.2743C>A (p.Arg915=) c.784C>A (p.Arg262=) c.3988C>A (p.Arg1330=) c.498-5819G>T c.1294-5819G>T (n.1294-5819G>T) c.1585-1462G>T (n.1585-1462G>T) | |
| 21 | g.45504431C= | CA2392190666 | COL18A1,SLC19A1 | c.3283C= (p.Arg1095=) c.2743C= (p.Arg915=) c.784C= (p.Arg262=) c.3988C= (p.Arg1330=) c.498-5819G= c.1294-5819G= (n.1294-5819G=) c.1585-1462G= (n.1585-1462G=) | |
| 21 | g.45504431C>G | CA410499122 | COL18A1,SLC19A1 | c.3283C>G (p.Arg1095Gly) c.2743C>G (p.Arg915Gly) c.784C>G (p.Arg262Gly) c.3988C>G (p.Arg1330Gly) c.498-5819G>C c.1294-5819G>C (n.1294-5819G>C) c.1585-1462G>C (n.1585-1462G>C) | |
| 21 | g.45504431C>T | CA236429 | COL18A1,SLC19A1 | c.3283C>T (p.Arg1095Ter) c.2743C>T (p.Arg915Ter) c.784C>T (p.Arg262Ter) c.3988C>T (p.Arg1330Ter) c.498-5819G>A c.1294-5819G>A (n.1294-5819G>A) c.1585-1462G>A (n.1585-1462G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45504432G>A | CA10067444 | COL18A1,SLC19A1 | c.3284G>A (p.Arg1095Gln) c.2744G>A (p.Arg915Gln) c.785G>A (p.Arg262Gln) c.3989G>A (p.Arg1330Gln) c.498-5820C>T c.1294-5820C>T (n.1294-5820C>T) c.1585-1463C>T (n.1585-1463C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45504432G>C | CA410499123 | COL18A1,SLC19A1 | c.3284G>C (p.Arg1095Pro) c.2744G>C (p.Arg915Pro) c.785G>C (p.Arg262Pro) c.3989G>C (p.Arg1330Pro) c.498-5820C>G c.1294-5820C>G (n.1294-5820C>G) c.1585-1463C>G (n.1585-1463C>G) | gnomAD v4 |
| 21 | g.45504432G= | CA2392190667 | COL18A1,SLC19A1 | c.3284G= (p.Arg1095=) c.2744G= (p.Arg915=) c.785G= (p.Arg262=) c.3989G= (p.Arg1330=) c.498-5820C= c.1294-5820C= (n.1294-5820C=) c.1585-1463C= (n.1585-1463C=) | |
| 21 | g.45504432G>T | CA410499124 | COL18A1,SLC19A1 | c.3284G>T (p.Arg1095Leu) c.2744G>T (p.Arg915Leu) c.785G>T (p.Arg262Leu) c.3989G>T (p.Arg1330Leu) c.498-5820C>A c.1294-5820C>A (n.1294-5820C>A) c.1585-1463C>A (n.1585-1463C>A) | |
| 21 | g.45504433A>C | CA512687120 | COL18A1,SLC19A1 | c.3285A>C (p.Arg1095=) c.2745A>C (p.Arg915=) c.786A>C (p.Arg262=) c.3990A>C (p.Arg1330=) c.498-5821T>G c.1294-5821T>G (n.1294-5821T>G) c.1585-1464T>G (n.1585-1464T>G) | |
| 21 | g.45504433A>G | CA512687121 | COL18A1,SLC19A1 | c.3285A>G (p.Arg1095=) c.2745A>G (p.Arg915=) c.786A>G (p.Arg262=) c.3990A>G (p.Arg1330=) c.498-5821T>C c.1294-5821T>C (n.1294-5821T>C) c.1585-1464T>C (n.1585-1464T>C) | |
| 21 | g.45504433A>T | CA512687122 | COL18A1,SLC19A1 | c.3285A>T (p.Arg1095=) c.2745A>T (p.Arg915=) c.786A>T (p.Arg262=) c.3990A>T (p.Arg1330=) c.498-5821T>A c.1294-5821T>A (n.1294-5821T>A) c.1585-1464T>A (n.1585-1464T>A) | |
| 21 | g.45504434G>A | CA410499125 | COL18A1,SLC19A1 | c.3286G>A (p.Gly1096Ser) c.2746G>A (p.Gly916Ser) c.787G>A (p.Gly263Ser) c.3991G>A (p.Gly1331Ser) c.498-5822C>T c.1294-5822C>T (n.1294-5822C>T) c.1585-1465C>T (n.1585-1465C>T) | |
| 21 | g.45504434G>C | CA410499126 | COL18A1,SLC19A1 | c.3286G>C (p.Gly1096Arg) c.2746G>C (p.Gly916Arg) c.787G>C (p.Gly263Arg) c.3991G>C (p.Gly1331Arg) c.498-5822C>G c.1294-5822C>G (n.1294-5822C>G) c.1585-1465C>G (n.1585-1465C>G) | |
| 21 | g.45504434G>T | CA410499127 | COL18A1,SLC19A1 | c.3286G>T (p.Gly1096Cys) c.2746G>T (p.Gly916Cys) c.787G>T (p.Gly263Cys) c.3991G>T (p.Gly1331Cys) c.498-5822C>A c.1294-5822C>A (n.1294-5822C>A) c.1585-1465C>A (n.1585-1465C>A) | |
| 21 | g.45504435G>A | CA410499128 | COL18A1,SLC19A1 | c.3287G>A (p.Gly1096Asp) c.2747G>A (p.Gly916Asp) c.788G>A (p.Gly263Asp) c.3992G>A (p.Gly1331Asp) c.498-5823C>T c.1294-5823C>T (n.1294-5823C>T) c.1585-1466C>T (n.1585-1466C>T) | ClinVar dbSNP |
| 21 | g.45504435G>C | CA410499129 | COL18A1,SLC19A1 | c.3287G>C (p.Gly1096Ala) c.2747G>C (p.Gly916Ala) c.788G>C (p.Gly263Ala) c.3992G>C (p.Gly1331Ala) c.498-5823C>G c.1294-5823C>G (n.1294-5823C>G) c.1585-1466C>G (n.1585-1466C>G) | |
| 21 | g.45504435G= | CA2392190668 | COL18A1,SLC19A1 | c.3287G= (p.Gly1096=) c.2747G= (p.Gly916=) c.788G= (p.Gly263=) c.3992G= (p.Gly1331=) c.498-5823C= c.1294-5823C= (n.1294-5823C=) c.1585-1466C= (n.1585-1466C=) | |
| 21 | g.45504435G>T | CA410499130 | COL18A1,SLC19A1 | c.3287G>T (p.Gly1096Val) c.2747G>T (p.Gly916Val) c.788G>T (p.Gly263Val) c.3992G>T (p.Gly1331Val) c.498-5823C>A c.1294-5823C>A (n.1294-5823C>A) c.1585-1466C>A (n.1585-1466C>A) | |
| 21 | g.45504436T>A | CA512687124 | COL18A1,SLC19A1 | c.3288T>A (p.Gly1096=) c.2748T>A (p.Gly916=) c.789T>A (p.Gly263=) c.3993T>A (p.Gly1331=) c.498-5824A>T c.1294-5824A>T (n.1294-5824A>T) c.1585-1467A>T (n.1585-1467A>T) | |
| 21 | g.45504436T>C | CA10067445 | COL18A1,SLC19A1 | c.3288T>C (p.Gly1096=) c.2748T>C (p.Gly916=) c.789T>C (p.Gly263=) c.3993T>C (p.Gly1331=) c.498-5824A>G c.1294-5824A>G (n.1294-5824A>G) c.1585-1467A>G (n.1585-1467A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45504436T>G | CA512687123 | COL18A1,SLC19A1 | c.3288T>G (p.Gly1096=) c.2748T>G (p.Gly916=) c.789T>G (p.Gly263=) c.3993T>G (p.Gly1331=) c.498-5824A>C c.1294-5824A>C (n.1294-5824A>C) c.1585-1467A>C (n.1585-1467A>C) | |
| 21 | g.45504436T= | CA2392190669 | COL18A1,SLC19A1 | c.3288T= (p.Gly1096=) c.2748T= (p.Gly916=) c.789T= (p.Gly263=) c.3993T= (p.Gly1331=) c.498-5824A= c.1294-5824A= (n.1294-5824A=) c.1585-1467A= (n.1585-1467A=) | |
| 21 | g.45504437G>A | CA410499131 | COL18A1,SLC19A1 | c.3289G>A (p.Asp1097Asn) c.2749G>A (p.Asp917Asn) c.790G>A (p.Asp264Asn) c.3994G>A (p.Asp1332Asn) c.498-5825C>T c.1294-5825C>T (n.1294-5825C>T) c.1585-1468C>T (n.1585-1468C>T) | ClinVar gnomAD v4 |
| 21 | g.45504437G>C | CA410499132 | COL18A1,SLC19A1 | c.3289G>C (p.Asp1097His) c.2749G>C (p.Asp917His) c.790G>C (p.Asp264His) c.3994G>C (p.Asp1332His) c.498-5825C>G c.1294-5825C>G (n.1294-5825C>G) c.1585-1468C>G (n.1585-1468C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45504437G= | CA2392190670 | COL18A1,SLC19A1 | c.3289G= (p.Asp1097=) c.2749G= (p.Asp917=) c.790G= (p.Asp264=) c.3994G= (p.Asp1332=) c.498-5825C= c.1294-5825C= (n.1294-5825C=) c.1585-1468C= (n.1585-1468C=) | |
| 21 | g.45504437G>T | CA410499133 | COL18A1,SLC19A1 | c.3289G>T (p.Asp1097Tyr) c.2749G>T (p.Asp917Tyr) c.790G>T (p.Asp264Tyr) c.3994G>T (p.Asp1332Tyr) c.498-5825C>A c.1294-5825C>A (n.1294-5825C>A) c.1585-1468C>A (n.1585-1468C>A) | |
| 21 | g.45504438A>C | CA410499134 | COL18A1,SLC19A1 | c.3290A>C (p.Asp1097Ala) c.2750A>C (p.Asp917Ala) c.791A>C (p.Asp264Ala) c.3995A>C (p.Asp1332Ala) c.498-5826T>G c.1294-5826T>G (n.1294-5826T>G) c.1585-1469T>G (n.1585-1469T>G) | |
| 21 | g.45504438A>G | CA410499135 | COL18A1,SLC19A1 | c.3290A>G (p.Asp1097Gly) c.2750A>G (p.Asp917Gly) c.791A>G (p.Asp264Gly) c.3995A>G (p.Asp1332Gly) c.498-5826T>C c.1294-5826T>C (n.1294-5826T>C) c.1585-1469T>C (n.1585-1469T>C) | |
| 21 | g.45504438A>T | CA410499136 | COL18A1,SLC19A1 | c.3290A>T (p.Asp1097Val) c.2750A>T (p.Asp917Val) c.791A>T (p.Asp264Val) c.3995A>T (p.Asp1332Val) c.498-5826T>A c.1294-5826T>A (n.1294-5826T>A) c.1585-1469T>A (n.1585-1469T>A) | |
| 21 | g.45504439T>A | CA410499137 | COL18A1,SLC19A1 | c.3291T>A (p.Asp1097Glu) c.2751T>A (p.Asp917Glu) c.792T>A (p.Asp264Glu) c.3996T>A (p.Asp1332Glu) c.498-5827A>T c.1294-5827A>T (n.1294-5827A>T) c.1585-1470A>T (n.1585-1470A>T) | |
| 21 | g.45504439T>C | CA512687125 | COL18A1,SLC19A1 | c.3291T>C (p.Asp1097=) c.2751T>C (p.Asp917=) c.792T>C (p.Asp264=) c.3996T>C (p.Asp1332=) c.498-5827A>G c.1294-5827A>G (n.1294-5827A>G) c.1585-1470A>G (n.1585-1470A>G) |