| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 21 | g.45504439T>G | CA410499138 | COL18A1,SLC19A1 | c.3291T>G (p.Asp1097Glu) c.2751T>G (p.Asp917Glu) c.792T>G (p.Asp264Glu) c.3996T>G (p.Asp1332Glu) c.498-5827A>C c.1294-5827A>C (n.1294-5827A>C) c.1585-1470A>C (n.1585-1470A>C) | |
| 21 | g.45504440G>A | CA10067446 | COL18A1,SLC19A1 | c.3292G>A (p.Ala1098Thr) c.2752G>A (p.Ala918Thr) c.793G>A (p.Ala265Thr) c.3997G>A (p.Ala1333Thr) c.498-5828C>T c.1294-5828C>T (n.1294-5828C>T) c.1585-1471C>T (n.1585-1471C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45504440G>C | CA410499139 | COL18A1,SLC19A1 | c.3292G>C (p.Ala1098Pro) c.2752G>C (p.Ala918Pro) c.793G>C (p.Ala265Pro) c.3997G>C (p.Ala1333Pro) c.498-5828C>G c.1294-5828C>G (n.1294-5828C>G) c.1585-1471C>G (n.1585-1471C>G) | |
| 21 | g.45504440G= | CA2392190671 | COL18A1,SLC19A1 | c.3292G= (p.Ala1098=) c.2752G= (p.Ala918=) c.793G= (p.Ala265=) c.3997G= (p.Ala1333=) c.498-5828C= c.1294-5828C= (n.1294-5828C=) c.1585-1471C= (n.1585-1471C=) | |
| 21 | g.45504440G>T | CA10067447 | COL18A1,SLC19A1 | c.3292G>T (p.Ala1098Ser) c.2752G>T (p.Ala918Ser) c.793G>T (p.Ala265Ser) c.3997G>T (p.Ala1333Ser) c.498-5828C>A c.1294-5828C>A (n.1294-5828C>A) c.1585-1471C>A (n.1585-1471C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45504441C>A | CA410499142 | COL18A1,SLC19A1 | c.3293C>A (p.Ala1098Glu) c.2753C>A (p.Ala918Glu) c.794C>A (p.Ala265Glu) c.3998C>A (p.Ala1333Glu) c.498-5829G>T c.1294-5829G>T (n.1294-5829G>T) c.1585-1472G>T (n.1585-1472G>T) | |
| 21 | g.45504441C= | CA2392190672 | COL18A1,SLC19A1 | c.3293C= (p.Ala1098=) c.2753C= (p.Ala918=) c.794C= (p.Ala265=) c.3998C= (p.Ala1333=) c.498-5829G= c.1294-5829G= (n.1294-5829G=) c.1585-1472G= (n.1585-1472G=) | |
| 21 | g.45504441C>G | CA410499141 | COL18A1,SLC19A1 | c.3293C>G (p.Ala1098Gly) c.2753C>G (p.Ala918Gly) c.794C>G (p.Ala265Gly) c.3998C>G (p.Ala1333Gly) c.498-5829G>C c.1294-5829G>C (n.1294-5829G>C) c.1585-1472G>C (n.1585-1472G>C) | |
| 21 | g.45504441C>T | CA410499140 | COL18A1,SLC19A1 | c.3293C>T (p.Ala1098Val) c.2753C>T (p.Ala918Val) c.794C>T (p.Ala265Val) c.3998C>T (p.Ala1333Val) c.498-5829G>A c.1294-5829G>A (n.1294-5829G>A) c.1585-1472G>A (n.1585-1472G>A) | ClinVar dbSNP gnomAD v4 |
| 21 | g.45504442A>C | CA512687128 | COL18A1,SLC19A1 | c.3294A>C (p.Ala1098=) c.2754A>C (p.Ala918=) c.795A>C (p.Ala265=) c.3999A>C (p.Ala1333=) c.498-5830T>G c.1294-5830T>G (n.1294-5830T>G) c.1585-1473T>G (n.1585-1473T>G) | ClinVar dbSNP |
| 21 | g.45504442A>G | CA512687127 | COL18A1,SLC19A1 | c.3294A>G (p.Ala1098=) c.2754A>G (p.Ala918=) c.795A>G (p.Ala265=) c.3999A>G (p.Ala1333=) c.498-5830T>C c.1294-5830T>C (n.1294-5830T>C) c.1585-1473T>C (n.1585-1473T>C) | gnomAD v4 |
| 21 | g.45504442A>T | CA512687126 | COL18A1,SLC19A1 | c.3294A>T (p.Ala1098=) c.2754A>T (p.Ala918=) c.795A>T (p.Ala265=) c.3999A>T (p.Ala1333=) c.498-5830T>A c.1294-5830T>A (n.1294-5830T>A) c.1585-1473T>A (n.1585-1473T>A) | |
| 21 | g.45504443G>A | CA410499143 | COL18A1,SLC19A1 | c.3295G>A (p.Gly1099Arg) c.2755G>A (p.Gly919Arg) c.796G>A (p.Gly266Arg) c.4000G>A (p.Gly1334Arg) c.498-5831C>T c.1294-5831C>T (n.1294-5831C>T) c.1585-1474C>T (n.1585-1474C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45504443G>C | CA410499144 | COL18A1,SLC19A1 | c.3295G>C (p.Gly1099Arg) c.2755G>C (p.Gly919Arg) c.796G>C (p.Gly266Arg) c.4000G>C (p.Gly1334Arg) c.498-5831C>G c.1294-5831C>G (n.1294-5831C>G) c.1585-1474C>G (n.1585-1474C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45504443G= | CA2392190673 | COL18A1,SLC19A1 | c.3295G= (p.Gly1099=) c.2755G= (p.Gly919=) c.796G= (p.Gly266=) c.4000G= (p.Gly1334=) c.498-5831C= c.1294-5831C= (n.1294-5831C=) c.1585-1474C= (n.1585-1474C=) | |
| 21 | g.45504443G>T | CA410499145 | COL18A1,SLC19A1 | c.3295G>T (p.Gly1099Ter) c.2755G>T (p.Gly919Ter) c.796G>T (p.Gly266Ter) c.4000G>T (p.Gly1334Ter) c.498-5831C>A c.1294-5831C>A (n.1294-5831C>A) c.1585-1474C>A (n.1585-1474C>A) | dbSNP |
| 21 | g.45504444G>A | CA410499146 | COL18A1,SLC19A1 | c.3296G>A (p.Gly1099Glu) c.2756G>A (p.Gly919Glu) c.797G>A (p.Gly266Glu) c.4001G>A (p.Gly1334Glu) c.498-5832C>T c.1294-5832C>T (n.1294-5832C>T) c.1585-1475C>T (n.1585-1475C>T) | |
| 21 | g.45504444G>C | CA410499147 | COL18A1,SLC19A1 | c.3296G>C (p.Gly1099Ala) c.2756G>C (p.Gly919Ala) c.797G>C (p.Gly266Ala) c.4001G>C (p.Gly1334Ala) c.498-5832C>G c.1294-5832C>G (n.1294-5832C>G) c.1585-1475C>G (n.1585-1475C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45504444G= | CA2392190674 | COL18A1,SLC19A1 | c.3296G= (p.Gly1099=) c.2756G= (p.Gly919=) c.797G= (p.Gly266=) c.4001G= (p.Gly1334=) c.498-5832C= c.1294-5832C= (n.1294-5832C=) c.1585-1475C= (n.1585-1475C=) |