| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 21 | g.45504448G>C | CA410499155 | COL18A1,SLC19A1 | c.3300G>C (p.Gln1100His) c.2760G>C (p.Gln920His) c.801G>C (p.Gln267His) c.4005G>C (p.Gln1335His) c.498-5836C>G c.1294-5836C>G (n.1294-5836C>G) c.1585-1479C>G (n.1585-1479C>G) | |
| 21 | g.45504448G>T | CA410499156 | COL18A1,SLC19A1 | c.3300G>T (p.Gln1100His) c.2760G>T (p.Gln920His) c.801G>T (p.Gln267His) c.4005G>T (p.Gln1335His) c.498-5836C>A c.1294-5836C>A (n.1294-5836C>A) c.1585-1479C>A (n.1585-1479C>A) | |
| 21 | g.45504449A>C | CA410499157 | COL18A1,SLC19A1 | c.3301A>C (p.Lys1101Gln) c.2761A>C (p.Lys921Gln) c.802A>C (p.Lys268Gln) c.4006A>C (p.Lys1336Gln) c.498-5837T>G c.1294-5837T>G (n.1294-5837T>G) c.1585-1480T>G (n.1585-1480T>G) | |
| 21 | g.45504449A>G | CA410499159 | COL18A1,SLC19A1 | c.3301A>G (p.Lys1101Glu) c.2761A>G (p.Lys921Glu) c.802A>G (p.Lys268Glu) c.4006A>G (p.Lys1336Glu) c.498-5837T>C c.1294-5837T>C (n.1294-5837T>C) c.1585-1480T>C (n.1585-1480T>C) | |
| 21 | g.45504449A>T | CA410499158 | COL18A1,SLC19A1 | c.3301A>T (p.Lys1101Ter) c.2761A>T (p.Lys921Ter) c.802A>T (p.Lys268Ter) c.4006A>T (p.Lys1336Ter) c.498-5837T>A c.1294-5837T>A (n.1294-5837T>A) c.1585-1480T>A (n.1585-1480T>A) | gnomAD v4 |
| 21 | g.45504450A>C | CA410499160 | COL18A1,SLC19A1 | c.3302A>C (p.Lys1101Thr) c.2762A>C (p.Lys921Thr) c.803A>C (p.Lys268Thr) c.4007A>C (p.Lys1336Thr) c.498-5838T>G c.1294-5838T>G (n.1294-5838T>G) c.1585-1481T>G (n.1585-1481T>G) | |
| 21 | g.45504450A>G | CA410499161 | COL18A1,SLC19A1 | c.3302A>G (p.Lys1101Arg) c.2762A>G (p.Lys921Arg) c.803A>G (p.Lys268Arg) c.4007A>G (p.Lys1336Arg) c.498-5838T>C c.1294-5838T>C (n.1294-5838T>C) c.1585-1481T>C (n.1585-1481T>C) | gnomAD v4 |
| 21 | g.45504450A>T | CA410499162 | COL18A1,SLC19A1 | c.3302A>T (p.Lys1101Ile) c.2762A>T (p.Lys921Ile) c.803A>T (p.Lys268Ile) c.4007A>T (p.Lys1336Ile) c.498-5838T>A c.1294-5838T>A (n.1294-5838T>A) c.1585-1481T>A (n.1585-1481T>A) | |
| 21 | g.45504450_45504451insT | CA2654917905 | COL18A1,SLC19A1 | c.3302_3303insT (p.Lys1101AsnfsTer?) c.2762_2763insT (p.Lys921AsnfsTer?) c.803_804insT (p.Lys268AsnfsTer?) c.4007_4008insT (p.Lys1336AsnfsTer?) c.498-5839_498-5838insA c.1294-5839_1294-5838insA (n.1294-5839_1294-5838insA) c.1585-1482_1585-1481insA (n.1585-1482_1585-1481insA) | gnomAD v4 |
| 21 | g.45504451A>C | CA410499163 | COL18A1,SLC19A1 | c.3303A>C (p.Lys1101Asn) c.2763A>C (p.Lys921Asn) c.804A>C (p.Lys268Asn) c.4008A>C (p.Lys1336Asn) c.498-5839T>G c.1294-5839T>G (n.1294-5839T>G) c.1585-1482T>G (n.1585-1482T>G) | gnomAD v4 |
| 21 | g.45504451A>G | CA512687133 | COL18A1,SLC19A1 | c.3303A>G (p.Lys1101=) c.2763A>G (p.Lys921=) c.804A>G (p.Lys268=) c.4008A>G (p.Lys1336=) c.498-5839T>C c.1294-5839T>C (n.1294-5839T>C) c.1585-1482T>C (n.1585-1482T>C) | |
| 21 | g.45504451A>T | CA410499164 | COL18A1,SLC19A1 | c.3303A>T (p.Lys1101Asn) c.2763A>T (p.Lys921Asn) c.804A>T (p.Lys268Asn) c.4008A>T (p.Lys1336Asn) c.498-5839T>A c.1294-5839T>A (n.1294-5839T>A) c.1585-1482T>A (n.1585-1482T>A) | |
| 21 | g.45504452G>A | CA410499165 | COL18A1,SLC19A1 | c.3304G>A (p.Gly1102Ser) c.2764G>A (p.Gly922Ser) c.805G>A (p.Gly269Ser) c.4009G>A (p.Gly1337Ser) c.498-5840C>T c.1294-5840C>T (n.1294-5840C>T) c.1585-1483C>T (n.1585-1483C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45504452G>C | CA410499166 | COL18A1,SLC19A1 | c.3304G>C (p.Gly1102Arg) c.2764G>C (p.Gly922Arg) c.805G>C (p.Gly269Arg) c.4009G>C (p.Gly1337Arg) c.498-5840C>G c.1294-5840C>G (n.1294-5840C>G) c.1585-1483C>G (n.1585-1483C>G) | |
| 21 | g.45504452G= | CA2392190677 | COL18A1,SLC19A1 | c.3304G= (p.Gly1102=) c.2764G= (p.Gly922=) c.805G= (p.Gly269=) c.4009G= (p.Gly1337=) c.498-5840C= c.1294-5840C= (n.1294-5840C=) c.1585-1483C= (n.1585-1483C=) | |
| 21 | g.45504452G>T | CA410499167 | COL18A1,SLC19A1 | c.3304G>T (p.Gly1102Cys) c.2764G>T (p.Gly922Cys) c.805G>T (p.Gly269Cys) c.4009G>T (p.Gly1337Cys) c.498-5840C>A c.1294-5840C>A (n.1294-5840C>A) c.1585-1483C>A (n.1585-1483C>A) | |
| 21 | g.45504453del | CA2654917907 | COL18A1,SLC19A1 | c.3305del (p.Gly1102AlafsTer?) c.2765del (p.Gly922AlafsTer?) c.806del (p.Gly269AlafsTer?) c.4010del (p.Gly1337AlafsTer?) c.498-5840del c.1294-5840del (n.1294-5840del) c.1585-1483del (n.1585-1483del) | gnomAD v4 |
| 21 | g.45504453G>A | CA410499168 | COL18A1,SLC19A1 | c.3305G>A (p.Gly1102Asp) c.2765G>A (p.Gly922Asp) c.806G>A (p.Gly269Asp) c.4010G>A (p.Gly1337Asp) c.498-5841C>T c.1294-5841C>T (n.1294-5841C>T) c.1585-1484C>T (n.1585-1484C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45504453G>C | CA410499169 | COL18A1,SLC19A1 | c.3305G>C (p.Gly1102Ala) c.2765G>C (p.Gly922Ala) c.806G>C (p.Gly269Ala) c.4010G>C (p.Gly1337Ala) c.498-5841C>G c.1294-5841C>G (n.1294-5841C>G) c.1585-1484C>G (n.1585-1484C>G) | |
| 21 | g.45504453G= | CA2392190678 | COL18A1,SLC19A1 | c.3305G= (p.Gly1102=) c.2765G= (p.Gly922=) c.806G= (p.Gly269=) c.4010G= (p.Gly1337=) c.498-5841C= c.1294-5841C= (n.1294-5841C=) c.1585-1484C= (n.1585-1484C=) | |
| 21 | g.45504453G>T | CA410499170 | COL18A1,SLC19A1 | c.3305G>T (p.Gly1102Val) c.2765G>T (p.Gly922Val) c.806G>T (p.Gly269Val) c.4010G>T (p.Gly1337Val) c.498-5841C>A c.1294-5841C>A (n.1294-5841C>A) c.1585-1484C>A (n.1585-1484C>A) | |
| 21 | g.45504454C>A | CA512687134 | COL18A1,SLC19A1 | c.3306C>A (p.Gly1102=) c.2766C>A (p.Gly922=) c.807C>A (p.Gly269=) c.4011C>A (p.Gly1337=) c.498-5842G>T c.1294-5842G>T (n.1294-5842G>T) c.1585-1485G>T (n.1585-1485G>T) | gnomAD v4 |
| 21 | g.45504454C= | CA2392190679 | COL18A1,SLC19A1 | c.3306C= (p.Gly1102=) c.2766C= (p.Gly922=) c.807C= (p.Gly269=) c.4011C= (p.Gly1337=) c.498-5842G= c.1294-5842G= (n.1294-5842G=) c.1585-1485G= (n.1585-1485G=) | |
| 21 | g.45504454C>G | CA512687135 | COL18A1,SLC19A1 | c.3306C>G (p.Gly1102=) c.2766C>G (p.Gly922=) c.807C>G (p.Gly269=) c.4011C>G (p.Gly1337=) c.498-5842G>C c.1294-5842G>C (n.1294-5842G>C) c.1585-1485G>C (n.1585-1485G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45504454C>T | CA10067448 | COL18A1,SLC19A1 | c.3306C>T (p.Gly1102=) c.2766C>T (p.Gly922=) c.807C>T (p.Gly269=) c.4011C>T (p.Gly1337=) c.498-5842G>A c.1294-5842G>A (n.1294-5842G>A) c.1585-1485G>A (n.1585-1485G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45504455G>A | CA10067449 | COL18A1,SLC19A1 | c.3307G>A (p.Glu1103Lys) c.2767G>A (p.Glu923Lys) c.808G>A (p.Glu270Lys) c.4012G>A (p.Glu1338Lys) c.498-5843C>T c.1294-5843C>T (n.1294-5843C>T) c.1585-1486C>T (n.1585-1486C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45504455G>C | CA410499171 | COL18A1,SLC19A1 | c.3307G>C (p.Glu1103Gln) c.2767G>C (p.Glu923Gln) c.808G>C (p.Glu270Gln) c.4012G>C (p.Glu1338Gln) c.498-5843C>G c.1294-5843C>G (n.1294-5843C>G) c.1585-1486C>G (n.1585-1486C>G) | |
| 21 | g.45504455G= | CA2392190680 | COL18A1,SLC19A1 | c.3307G= (p.Glu1103=) c.2767G= (p.Glu923=) c.808G= (p.Glu270=) c.4012G= (p.Glu1338=) c.498-5843C= c.1294-5843C= (n.1294-5843C=) c.1585-1486C= (n.1585-1486C=) | |
| 21 | g.45504455G>T | CA410499172 | COL18A1,SLC19A1 | c.3307G>T (p.Glu1103Ter) c.2767G>T (p.Glu923Ter) c.808G>T (p.Glu270Ter) c.4012G>T (p.Glu1338Ter) c.498-5843C>A c.1294-5843C>A (n.1294-5843C>A) c.1585-1486C>A (n.1585-1486C>A) | gnomAD v4 |
| 21 | g.45504456A= | CA2392190681 | COL18A1,SLC19A1 | c.3308A= (p.Glu1103=) c.2768A= (p.Glu923=) c.809A= (p.Glu270=) c.4013A= (p.Glu1338=) c.498-5844T= c.1294-5844T= (n.1294-5844T=) c.1585-1487T= (n.1585-1487T=) | |
| 21 | g.45504456A>C | CA410499173 | COL18A1,SLC19A1 | c.3308A>C (p.Glu1103Ala) c.2768A>C (p.Glu923Ala) c.809A>C (p.Glu270Ala) c.4013A>C (p.Glu1338Ala) c.498-5844T>G c.1294-5844T>G (n.1294-5844T>G) c.1585-1487T>G (n.1585-1487T>G) | |
| 21 | g.45504456A>G | CA321921211 | COL18A1,SLC19A1 | c.3308A>G (p.Glu1103Gly) c.2768A>G (p.Glu923Gly) c.809A>G (p.Glu270Gly) c.4013A>G (p.Glu1338Gly) c.498-5844T>C c.1294-5844T>C (n.1294-5844T>C) c.1585-1487T>C (n.1585-1487T>C) | ClinVar dbSNP gnomAD v4 |
| 21 | g.45504456A>T | CA410499174 | COL18A1,SLC19A1 | c.3308A>T (p.Glu1103Val) c.2768A>T (p.Glu923Val) c.809A>T (p.Glu270Val) c.4013A>T (p.Glu1338Val) c.498-5844T>A c.1294-5844T>A (n.1294-5844T>A) c.1585-1487T>A (n.1585-1487T>A) |