| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45504419dup | CA10067439 | COL18A1,SLC19A1 | c.3271dup c.2731dup c.772dup c.3976dup c.498-5803dup c.1294-5803dup (n.1294-5803dup) c.1585-1446dup (n.1585-1446dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45504419del | CA645607891 | COL18A1,SLC19A1 | c.3271del c.2731del c.772del c.3976del c.498-5803del c.1294-5803del (n.1294-5803del) c.1585-1446del (n.1585-1446del) | gnomAD v4 COSMIC COSMIC COSMIC |
| 21 | g.45504419_45504421del | CA2654917809 | COL18A1,SLC19A1 | c.3271_3273del (p.Glu1091del) c.2731_2733del (p.Glu911del) c.772_774del (p.Glu258del) c.3976_3978del (p.Glu1326del) c.498-5808_498-5806del c.1294-5808_1294-5806del (n.1294-5808_1294-5806del) c.1585-1451_1585-1449del (n.1585-1451_1585-1449del) | gnomAD v4 |
| 21 | g.45504419G>A | CA321921208 | COL18A1,SLC19A1 | c.3271G>A (p.Glu1091Lys) c.2731G>A (p.Glu911Lys) c.772G>A (p.Glu258Lys) c.3976G>A (p.Glu1326Lys) c.498-5807C>T c.1294-5807C>T (n.1294-5807C>T) c.1585-1450C>T (n.1585-1450C>T) | dbSNP |
| 21 | g.45504419G>C | CA410499096 | COL18A1,SLC19A1 | c.3271G>C (p.Glu1091Gln) c.2731G>C (p.Glu911Gln) c.772G>C (p.Glu258Gln) c.3976G>C (p.Glu1326Gln) c.498-5807C>G c.1294-5807C>G (n.1294-5807C>G) c.1585-1450C>G (n.1585-1450C>G) | gnomAD v4 |
| 21 | g.45504419G= | CA2392190661 | COL18A1,SLC19A1 | c.3271G= (p.Glu1091=) c.2731G= (p.Glu911=) c.772G= (p.Glu258=) c.3976G= (p.Glu1326=) c.498-5807C= c.1294-5807C= (n.1294-5807C=) c.1585-1450C= (n.1585-1450C=) | |
| 21 | g.45504419G>T | CA410499097 | COL18A1,SLC19A1 | c.3271G>T (p.Glu1091Ter) c.2731G>T (p.Glu911Ter) c.772G>T (p.Glu258Ter) c.3976G>T (p.Glu1326Ter) c.498-5807C>A c.1294-5807C>A (n.1294-5807C>A) c.1585-1450C>A (n.1585-1450C>A) | |
| 21 | g.45504420A>C | CA410499098 | COL18A1,SLC19A1 | c.3272A>C (p.Glu1091Ala) c.2732A>C (p.Glu911Ala) c.773A>C (p.Glu258Ala) c.3977A>C (p.Glu1326Ala) c.498-5808T>G c.1294-5808T>G (n.1294-5808T>G) c.1585-1451T>G (n.1585-1451T>G) | |
| 21 | g.45504420A>G | CA410499099 | COL18A1,SLC19A1 | c.3272A>G (p.Glu1091Gly) c.2732A>G (p.Glu911Gly) c.773A>G (p.Glu258Gly) c.3977A>G (p.Glu1326Gly) c.498-5808T>C c.1294-5808T>C (n.1294-5808T>C) c.1585-1451T>C (n.1585-1451T>C) | |
| 21 | g.45504420A>T | CA410499100 | COL18A1,SLC19A1 | c.3272A>T (p.Glu1091Val) c.2732A>T (p.Glu911Val) c.773A>T (p.Glu258Val) c.3977A>T (p.Glu1326Val) c.498-5808T>A c.1294-5808T>A (n.1294-5808T>A) c.1585-1451T>A (n.1585-1451T>A) | |
| 21 | g.45504421G>A | CA512687113 | COL18A1,SLC19A1 | c.3273G>A (p.Glu1091=) c.2733G>A (p.Glu911=) c.774G>A (p.Glu258=) c.3978G>A (p.Glu1326=) c.498-5809C>T c.1294-5809C>T (n.1294-5809C>T) c.1585-1452C>T (n.1585-1452C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45504421G>C | CA410499101 | COL18A1,SLC19A1 | c.3273G>C (p.Glu1091Asp) c.2733G>C (p.Glu911Asp) c.774G>C (p.Glu258Asp) c.3978G>C (p.Glu1326Asp) c.498-5809C>G c.1294-5809C>G (n.1294-5809C>G) c.1585-1452C>G (n.1585-1452C>G) | |
| 21 | g.45504421G= | CA2392190662 | COL18A1,SLC19A1 | c.3273G= (p.Glu1091=) c.2733G= (p.Glu911=) c.774G= (p.Glu258=) c.3978G= (p.Glu1326=) c.498-5809C= c.1294-5809C= (n.1294-5809C=) c.1585-1452C= (n.1585-1452C=) | |
| 21 | g.45504421G>T | CA410499102 | COL18A1,SLC19A1 | c.3273G>T (p.Glu1091Asp) c.2733G>T (p.Glu911Asp) c.774G>T (p.Glu258Asp) c.3978G>T (p.Glu1326Asp) c.498-5809C>A c.1294-5809C>A (n.1294-5809C>A) c.1585-1452C>A (n.1585-1452C>A) | gnomAD v4 |
| 21 | g.45504422A>C | CA410499103 | COL18A1,SLC19A1 | c.3274A>C (p.Lys1092Gln) c.2734A>C (p.Lys912Gln) c.775A>C (p.Lys259Gln) c.3979A>C (p.Lys1327Gln) c.498-5810T>G c.1294-5810T>G (n.1294-5810T>G) c.1585-1453T>G (n.1585-1453T>G) | |
| 21 | g.45504422A>G | CA410499105 | COL18A1,SLC19A1 | c.3274A>G (p.Lys1092Glu) c.2734A>G (p.Lys912Glu) c.775A>G (p.Lys259Glu) c.3979A>G (p.Lys1327Glu) c.498-5810T>C c.1294-5810T>C (n.1294-5810T>C) c.1585-1453T>C (n.1585-1453T>C) | |
| 21 | g.45504422A>T | CA410499104 | COL18A1,SLC19A1 | c.3274A>T (p.Lys1092Ter) c.2734A>T (p.Lys912Ter) c.775A>T (p.Lys259Ter) c.3979A>T (p.Lys1327Ter) c.498-5810T>A c.1294-5810T>A (n.1294-5810T>A) c.1585-1453T>A (n.1585-1453T>A) | |
| 21 | g.45504423A= | CA2392190663 | COL18A1,SLC19A1 | c.3275A= (p.Lys1092=) c.2735A= (p.Lys912=) c.776A= (p.Lys259=) c.3980A= (p.Lys1327=) c.498-5811T= c.1294-5811T= (n.1294-5811T=) c.1585-1454T= (n.1585-1454T=) | |
| 21 | g.45504423A>C | CA410499106 | COL18A1,SLC19A1 | c.3275A>C (p.Lys1092Thr) c.2735A>C (p.Lys912Thr) c.776A>C (p.Lys259Thr) c.3980A>C (p.Lys1327Thr) c.498-5811T>G c.1294-5811T>G (n.1294-5811T>G) c.1585-1454T>G (n.1585-1454T>G) | |
| 21 | g.45504423A>G | CA321921209 | COL18A1,SLC19A1 | c.3275A>G (p.Lys1092Arg) c.2735A>G (p.Lys912Arg) c.776A>G (p.Lys259Arg) c.3980A>G (p.Lys1327Arg) c.498-5811T>C c.1294-5811T>C (n.1294-5811T>C) c.1585-1454T>C (n.1585-1454T>C) | dbSNP gnomAD v4 |
| 21 | g.45504423A>T | CA410499107 | COL18A1,SLC19A1 | c.3275A>T (p.Lys1092Met) c.2735A>T (p.Lys912Met) c.776A>T (p.Lys259Met) c.3980A>T (p.Lys1327Met) c.498-5811T>A c.1294-5811T>A (n.1294-5811T>A) c.1585-1454T>A (n.1585-1454T>A) | |
| 21 | g.45504424G>A | CA512687114 | COL18A1,SLC19A1 | c.3276G>A (p.Lys1092=) c.2736G>A (p.Lys912=) c.777G>A (p.Lys259=) c.3981G>A (p.Lys1327=) c.498-5812C>T c.1294-5812C>T (n.1294-5812C>T) c.1585-1455C>T (n.1585-1455C>T) | |
| 21 | g.45504424G>C | CA10067443 | COL18A1,SLC19A1 | c.3276G>C (p.Lys1092Asn) c.2736G>C (p.Lys912Asn) c.777G>C (p.Lys259Asn) c.3981G>C (p.Lys1327Asn) c.498-5812C>G c.1294-5812C>G (n.1294-5812C>G) c.1585-1455C>G (n.1585-1455C>G) | dbSNP ExAC |
| 21 | g.45504424G= | CA2392190664 | COL18A1,SLC19A1 | c.3276G= (p.Lys1092=) c.2736G= (p.Lys912=) c.777G= (p.Lys259=) c.3981G= (p.Lys1327=) c.498-5812C= c.1294-5812C= (n.1294-5812C=) c.1585-1455C= (n.1585-1455C=) | |
| 21 | g.45504424G>T | CA410499108 | COL18A1,SLC19A1 | c.3276G>T (p.Lys1092Asn) c.2736G>T (p.Lys912Asn) c.777G>T (p.Lys259Asn) c.3981G>T (p.Lys1327Asn) c.498-5812C>A c.1294-5812C>A (n.1294-5812C>A) c.1585-1455C>A (n.1585-1455C>A) | |
| 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 |