| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 21 | g.45504444G>T | CA410499148 | COL18A1,SLC19A1 | c.3296G>T (p.Gly1099Val) c.2756G>T (p.Gly919Val) c.797G>T (p.Gly266Val) c.4001G>T (p.Gly1334Val) c.498-5832C>A c.1294-5832C>A (n.1294-5832C>A) c.1585-1475C>A (n.1585-1475C>A) | |
| 21 | g.45504445A= | CA2392190675 | COL18A1,SLC19A1 | c.3297A= (p.Gly1099=) c.2757A= (p.Gly919=) c.798A= (p.Gly266=) c.4002A= (p.Gly1334=) c.498-5833T= c.1294-5833T= (n.1294-5833T=) c.1585-1476T= (n.1585-1476T=) | |
| 21 | g.45504445A>C | CA512687129 | COL18A1,SLC19A1 | c.3297A>C (p.Gly1099=) c.2757A>C (p.Gly919=) c.798A>C (p.Gly266=) c.4002A>C (p.Gly1334=) c.498-5833T>G c.1294-5833T>G (n.1294-5833T>G) c.1585-1476T>G (n.1585-1476T>G) | ClinVar dbSNP |
| 21 | g.45504445A>G | CA512687130 | COL18A1,SLC19A1 | c.3297A>G (p.Gly1099=) c.2757A>G (p.Gly919=) c.798A>G (p.Gly266=) c.4002A>G (p.Gly1334=) c.498-5833T>C c.1294-5833T>C (n.1294-5833T>C) c.1585-1476T>C (n.1585-1476T>C) | ClinVar |
| 21 | g.45504445A>T | CA512687131 | COL18A1,SLC19A1 | c.3297A>T (p.Gly1099=) c.2757A>T (p.Gly919=) c.798A>T (p.Gly266=) c.4002A>T (p.Gly1334=) c.498-5833T>A c.1294-5833T>A (n.1294-5833T>A) c.1585-1476T>A (n.1585-1476T>A) | |
| 21 | g.45504446C>A | CA410499151 | COL18A1,SLC19A1 | c.3298C>A (p.Gln1100Lys) c.2758C>A (p.Gln920Lys) c.799C>A (p.Gln267Lys) c.4003C>A (p.Gln1335Lys) c.498-5834G>T c.1294-5834G>T (n.1294-5834G>T) c.1585-1477G>T (n.1585-1477G>T) | gnomAD v4 |
| 21 | g.45504446C= | CA2392190676 | COL18A1,SLC19A1 | c.3298C= (p.Gln1100=) c.2758C= (p.Gln920=) c.799C= (p.Gln267=) c.4003C= (p.Gln1335=) c.498-5834G= c.1294-5834G= (n.1294-5834G=) c.1585-1477G= (n.1585-1477G=) | |
| 21 | g.45504446C>G | CA410499149 | COL18A1,SLC19A1 | c.3298C>G (p.Gln1100Glu) c.2758C>G (p.Gln920Glu) c.799C>G (p.Gln267Glu) c.4003C>G (p.Gln1335Glu) c.498-5834G>C c.1294-5834G>C (n.1294-5834G>C) c.1585-1477G>C (n.1585-1477G>C) | |
| 21 | g.45504446C>T | CA410499150 | COL18A1,SLC19A1 | c.3298C>T (p.Gln1100Ter) c.2758C>T (p.Gln920Ter) c.799C>T (p.Gln267Ter) c.4003C>T (p.Gln1335Ter) c.498-5834G>A c.1294-5834G>A (n.1294-5834G>A) c.1585-1477G>A (n.1585-1477G>A) | dbSNP gnomAD v4 |
| 21 | g.45504447A>C | CA410499152 | COL18A1,SLC19A1 | c.3299A>C (p.Gln1100Pro) c.2759A>C (p.Gln920Pro) c.800A>C (p.Gln267Pro) c.4004A>C (p.Gln1335Pro) c.498-5835T>G c.1294-5835T>G (n.1294-5835T>G) c.1585-1478T>G (n.1585-1478T>G) | |
| 21 | g.45504447A>G | CA410499153 | COL18A1,SLC19A1 | c.3299A>G (p.Gln1100Arg) c.2759A>G (p.Gln920Arg) c.800A>G (p.Gln267Arg) c.4004A>G (p.Gln1335Arg) c.498-5835T>C c.1294-5835T>C (n.1294-5835T>C) c.1585-1478T>C (n.1585-1478T>C) | |
| 21 | g.45504447A>T | CA410499154 | COL18A1,SLC19A1 | c.3299A>T (p.Gln1100Leu) c.2759A>T (p.Gln920Leu) c.800A>T (p.Gln267Leu) c.4004A>T (p.Gln1335Leu) c.498-5835T>A c.1294-5835T>A (n.1294-5835T>A) c.1585-1478T>A (n.1585-1478T>A) | |
| 21 | g.45504448_45504449del | CA2654917900 | COL18A1,SLC19A1 | c.3300_3301del (p.Lys1101ArgfsTer?) c.2760_2761del (p.Lys921ArgfsTer?) c.801_802del (p.Lys268ArgfsTer?) c.4005_4006del (p.Lys1336ArgfsTer?) c.498-5836_498-5835del c.1294-5836_1294-5835del (n.1294-5836_1294-5835del) c.1585-1479_1585-1478del (n.1585-1479_1585-1478del) | gnomAD v4 |
| 21 | g.45504448G>A | CA512687132 | COL18A1,SLC19A1 | c.3300G>A (p.Gln1100=) c.2760G>A (p.Gln920=) c.801G>A (p.Gln267=) c.4005G>A (p.Gln1335=) c.498-5836C>T c.1294-5836C>T (n.1294-5836C>T) c.1585-1479C>T (n.1585-1479C>T) |