UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45505160C>A | CA10067543 | COL18A1,SLC19A1 | c.3435C>A (p.Gly1145=) c.2895C>A (p.Gly965=) c.936C>A (p.Gly312=) c.4140C>A (p.Gly1380=) c.498-6548G>T c.1294-6548G>T (n.1294-6548G>T) c.3426C>A (p.Gly1142=) c.4131C>A (p.Gly1377=) c.2886C>A (p.Gly962=) c.1585-2191G>T (n.1585-2191G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45505160C= | CA2392191206 | COL18A1,SLC19A1 | c.3435C= (p.Gly1145=) c.2895C= (p.Gly965=) c.936C= (p.Gly312=) c.4140C= (p.Gly1380=) c.498-6548G= c.1294-6548G= (n.1294-6548G=) c.3426C= (p.Gly1142=) c.4131C= (p.Gly1377=) c.2886C= (p.Gly962=) c.1585-2191G= (n.1585-2191G=) | |
| 21 | g.45505160C>G | CA512687222 | COL18A1,SLC19A1 | c.3435C>G (p.Gly1145=) c.2895C>G (p.Gly965=) c.936C>G (p.Gly312=) c.4140C>G (p.Gly1380=) c.498-6548G>C c.1294-6548G>C (n.1294-6548G>C) c.3426C>G (p.Gly1142=) c.4131C>G (p.Gly1377=) c.2886C>G (p.Gly962=) c.1585-2191G>C (n.1585-2191G>C) | gnomAD v4 |
| 21 | g.45505160C>T | CA512687223 | COL18A1,SLC19A1 | c.3435C>T (p.Gly1145=) c.2895C>T (p.Gly965=) c.936C>T (p.Gly312=) c.4140C>T (p.Gly1380=) c.498-6548G>A c.1294-6548G>A (n.1294-6548G>A) c.3426C>T (p.Gly1142=) c.4131C>T (p.Gly1377=) c.2886C>T (p.Gly962=) c.1585-2191G>A (n.1585-2191G>A) | gnomAD v4 |
| 21 | g.45505161C>A | CA410499426 | COL18A1,SLC19A1 | c.3436C>A (p.Gln1146Lys) c.2896C>A (p.Gln966Lys) c.937C>A (p.Gln313Lys) c.4141C>A (p.Gln1381Lys) c.498-6549G>T c.1294-6549G>T (n.1294-6549G>T) c.3427C>A (p.Gln1143Lys) c.4132C>A (p.Gln1378Lys) c.2887C>A (p.Gln963Lys) c.1585-2192G>T (n.1585-2192G>T) | gnomAD v4 |
| 21 | g.45505161C= | CA2392191207 | COL18A1,SLC19A1 | c.3436C= (p.Gln1146=) c.2896C= (p.Gln966=) c.937C= (p.Gln313=) c.4141C= (p.Gln1381=) c.498-6549G= c.1294-6549G= (n.1294-6549G=) c.3427C= (p.Gln1143=) c.4132C= (p.Gln1378=) c.2887C= (p.Gln963=) c.1585-2192G= (n.1585-2192G=) | |
| 21 | g.45505161C>G | CA410499427 | COL18A1,SLC19A1 | c.3436C>G (p.Gln1146Glu) c.2896C>G (p.Gln966Glu) c.937C>G (p.Gln313Glu) c.4141C>G (p.Gln1381Glu) c.498-6549G>C c.1294-6549G>C (n.1294-6549G>C) c.3427C>G (p.Gln1143Glu) c.4132C>G (p.Gln1378Glu) c.2887C>G (p.Gln963Glu) c.1585-2192G>C (n.1585-2192G>C) | |
| 21 | g.45505161C>T | CA321921427 | COL18A1,SLC19A1 | c.3436C>T (p.Gln1146Ter) c.2896C>T (p.Gln966Ter) c.937C>T (p.Gln313Ter) c.4141C>T (p.Gln1381Ter) c.498-6549G>A c.1294-6549G>A (n.1294-6549G>A) c.3427C>T (p.Gln1143Ter) c.4132C>T (p.Gln1378Ter) c.2887C>T (p.Gln963Ter) c.1585-2192G>A (n.1585-2192G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45505162A>C | CA410499428 | COL18A1,SLC19A1 | c.3437A>C (p.Gln1146Pro) c.2897A>C (p.Gln966Pro) c.938A>C (p.Gln313Pro) c.4142A>C (p.Gln1381Pro) c.498-6550T>G c.1294-6550T>G (n.1294-6550T>G) c.3428A>C (p.Gln1143Pro) c.4133A>C (p.Gln1378Pro) c.2888A>C (p.Gln963Pro) c.1585-2193T>G (n.1585-2193T>G) | |
| 21 | g.45505162A>G | CA410499429 | COL18A1,SLC19A1 | c.3437A>G (p.Gln1146Arg) c.2897A>G (p.Gln966Arg) c.938A>G (p.Gln313Arg) c.4142A>G (p.Gln1381Arg) c.498-6550T>C c.1294-6550T>C (n.1294-6550T>C) c.3428A>G (p.Gln1143Arg) c.4133A>G (p.Gln1378Arg) c.2888A>G (p.Gln963Arg) c.1585-2193T>C (n.1585-2193T>C) | |
| 21 | g.45505162A>T | CA410499430 | COL18A1,SLC19A1 | c.3437A>T (p.Gln1146Leu) c.2897A>T (p.Gln966Leu) c.938A>T (p.Gln313Leu) c.4142A>T (p.Gln1381Leu) c.498-6550T>A c.1294-6550T>A (n.1294-6550T>A) c.3428A>T (p.Gln1143Leu) c.4133A>T (p.Gln1378Leu) c.2888A>T (p.Gln963Leu) c.1585-2193T>A (n.1585-2193T>A) | |
| 21 | g.45505163G>A | CA512687224 | COL18A1,SLC19A1 | c.3438G>A (p.Gln1146=) c.2898G>A (p.Gln966=) c.939G>A (p.Gln313=) c.4143G>A (p.Gln1381=) c.498-6551C>T c.1294-6551C>T (n.1294-6551C>T) c.3429G>A (p.Gln1143=) c.4134G>A (p.Gln1378=) c.2889G>A (p.Gln963=) c.1585-2194C>T (n.1585-2194C>T) | gnomAD v4 |
| 21 | g.45505163G>C | CA410499431 | COL18A1,SLC19A1 | c.3438G>C (p.Gln1146His) c.2898G>C (p.Gln966His) c.939G>C (p.Gln313His) c.4143G>C (p.Gln1381His) c.498-6551C>G c.1294-6551C>G (n.1294-6551C>G) c.3429G>C (p.Gln1143His) c.4134G>C (p.Gln1378His) c.2889G>C (p.Gln963His) c.1585-2194C>G (n.1585-2194C>G) | |
| 21 | g.45505163G>T | CA410499432 | COL18A1,SLC19A1 | c.3438G>T (p.Gln1146His) c.2898G>T (p.Gln966His) c.939G>T (p.Gln313His) c.4143G>T (p.Gln1381His) c.498-6551C>A c.1294-6551C>A (n.1294-6551C>A) c.3429G>T (p.Gln1143His) c.4134G>T (p.Gln1378His) c.2889G>T (p.Gln963His) c.1585-2194C>A (n.1585-2194C>A) | gnomAD v4 |
| 21 | g.45505163_45505223delinsGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT | CA2392191208 | COL18A1,SLC19A1 | c.3438_3498delinsGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT (p.Gln1146=) c.2898_2958delinsGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT (p.Gln966=) c.939_999delinsGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT (p.Gln313=) c.4143_4203delinsGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT (p.Gln1381=) c.498-6611_498-6551delinsAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGGGGTCCCTGAGGTCCAGGTGGGCCGGGC c.1294-6611_1294-6551delinsAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGGGGTCCCTGAGGTCCAGGTGGGCCGGGC (n.1294-6611_1294-6551delinsAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGGGGTCCCTGAGGTCCAGGTGGGCCGGGC) c.3429_3489delinsGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT (p.Gln1143=) c.4134_4194delinsGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT (p.Gln1378=) c.2889_2949delinsGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT (p.Gln963=) c.1585-2254_1585-2194delinsAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGGGGTCCCTGAGGTCCAGGTGGGCCGGGC (n.1585-2254_1585-2194delinsAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGGGGTCCCTGAGGTCCAGGTGGGCCGGGC) | |
| 21 | g.45505164C>A | CA410499433 | COL18A1,SLC19A1 | c.3439C>A (p.Pro1147Thr) c.2899C>A (p.Pro967Thr) c.940C>A (p.Pro314Thr) c.4144C>A (p.Pro1382Thr) c.498-6552G>T c.1294-6552G>T (n.1294-6552G>T) c.3430C>A (p.Pro1144Thr) c.4135C>A (p.Pro1379Thr) c.2890C>A (p.Pro964Thr) c.1585-2195G>T (n.1585-2195G>T) | |
| 21 | g.45505164C= | CA2392191209 | COL18A1,SLC19A1 | c.3439C= (p.Pro1147=) c.2899C= (p.Pro967=) c.940C= (p.Pro314=) c.4144C= (p.Pro1382=) c.498-6552G= c.1294-6552G= (n.1294-6552G=) c.3430C= (p.Pro1144=) c.4135C= (p.Pro1379=) c.2890C= (p.Pro964=) c.1585-2195G= (n.1585-2195G=) | |
| 21 | g.45505164C>G | CA410499434 | COL18A1,SLC19A1 | c.3439C>G (p.Pro1147Ala) c.2899C>G (p.Pro967Ala) c.940C>G (p.Pro314Ala) c.4144C>G (p.Pro1382Ala) c.498-6552G>C c.1294-6552G>C (n.1294-6552G>C) c.3430C>G (p.Pro1144Ala) c.4135C>G (p.Pro1379Ala) c.2890C>G (p.Pro964Ala) c.1585-2195G>C (n.1585-2195G>C) | |
| 21 | g.45505164C>T | CA10067545 | COL18A1,SLC19A1 | c.3439C>T (p.Pro1147Ser) c.2899C>T (p.Pro967Ser) c.940C>T (p.Pro314Ser) c.4144C>T (p.Pro1382Ser) c.498-6552G>A c.1294-6552G>A (n.1294-6552G>A) c.3430C>T (p.Pro1144Ser) c.4135C>T (p.Pro1379Ser) c.2890C>T (p.Pro964Ser) c.1585-2195G>A (n.1585-2195G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45505172_45505231del | CA10067544 | COL18A1,SLC19A1 | c.3447_3506del (p.Pro1150_Pro1169del) c.2907_2966del (p.Pro970_Pro989del) c.948_1007del (p.Pro317_Pro336del) c.4152_4211del (p.Pro1385_Pro1404del) c.498-6611_498-6552del c.1294-6611_1294-6552del (n.1294-6611_1294-6552del) c.3438_3497del (p.Pro1147_Pro1166del) c.4143_4202del (p.Pro1382_Pro1401del) c.2898_2957del (p.Pro967_Pro986del) c.1585-2254_1585-2195del (n.1585-2254_1585-2195del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45505165C>A | CA410499435 | COL18A1,SLC19A1 | c.3440C>A (p.Pro1147His) c.2900C>A (p.Pro967His) c.941C>A (p.Pro314His) c.4145C>A (p.Pro1382His) c.498-6553G>T c.1294-6553G>T (n.1294-6553G>T) c.3431C>A (p.Pro1144His) c.4136C>A (p.Pro1379His) c.2891C>A (p.Pro964His) c.1585-2196G>T (n.1585-2196G>T) | gnomAD v4 |
| 21 | g.45505165C>G | CA410499436 | COL18A1,SLC19A1 | c.3440C>G (p.Pro1147Arg) c.2900C>G (p.Pro967Arg) c.941C>G (p.Pro314Arg) c.4145C>G (p.Pro1382Arg) c.498-6553G>C c.1294-6553G>C (n.1294-6553G>C) c.3431C>G (p.Pro1144Arg) c.4136C>G (p.Pro1379Arg) c.2891C>G (p.Pro964Arg) c.1585-2196G>C (n.1585-2196G>C) | |
| 21 | g.45505165C>T | CA410499437 | COL18A1,SLC19A1 | c.3440C>T (p.Pro1147Leu) c.2900C>T (p.Pro967Leu) c.941C>T (p.Pro314Leu) c.4145C>T (p.Pro1382Leu) c.498-6553G>A c.1294-6553G>A (n.1294-6553G>A) c.3431C>T (p.Pro1144Leu) c.4136C>T (p.Pro1379Leu) c.2891C>T (p.Pro964Leu) c.1585-2196G>A (n.1585-2196G>A) | |
| 21 | g.45505166C>A | CA512687225 | COL18A1,SLC19A1 | c.3441C>A (p.Pro1147=) c.2901C>A (p.Pro967=) c.942C>A (p.Pro314=) c.4146C>A (p.Pro1382=) c.498-6554G>T c.1294-6554G>T (n.1294-6554G>T) c.3432C>A (p.Pro1144=) c.4137C>A (p.Pro1379=) c.2892C>A (p.Pro964=) c.1585-2197G>T (n.1585-2197G>T) | gnomAD v4 |
| 21 | g.45505166C= | CA2392191210 | COL18A1,SLC19A1 | c.3441C= (p.Pro1147=) c.2901C= (p.Pro967=) c.942C= (p.Pro314=) c.4146C= (p.Pro1382=) c.498-6554G= c.1294-6554G= (n.1294-6554G=) c.3432C= (p.Pro1144=) c.4137C= (p.Pro1379=) c.2892C= (p.Pro964=) c.1585-2197G= (n.1585-2197G=) | |
| 21 | g.45505166C>G | CA10067546 | COL18A1,SLC19A1 | c.3441C>G (p.Pro1147=) c.2901C>G (p.Pro967=) c.942C>G (p.Pro314=) c.4146C>G (p.Pro1382=) c.498-6554G>C c.1294-6554G>C (n.1294-6554G>C) c.3432C>G (p.Pro1144=) c.4137C>G (p.Pro1379=) c.2892C>G (p.Pro964=) c.1585-2197G>C (n.1585-2197G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45505166C>T | CA512687226 | COL18A1,SLC19A1 | c.3441C>T (p.Pro1147=) c.2901C>T (p.Pro967=) c.942C>T (p.Pro314=) c.4146C>T (p.Pro1382=) c.498-6554G>A c.1294-6554G>A (n.1294-6554G>A) c.3432C>T (p.Pro1144=) c.4137C>T (p.Pro1379=) c.2892C>T (p.Pro964=) c.1585-2197G>A (n.1585-2197G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45505167G>A | CA10067547 | COL18A1,SLC19A1 | c.3442G>A (p.Gly1148Ser) c.2902G>A (p.Gly968Ser) c.943G>A (p.Gly315Ser) c.4147G>A (p.Gly1383Ser) c.498-6555C>T c.1294-6555C>T (n.1294-6555C>T) c.3433G>A (p.Gly1145Ser) c.4138G>A (p.Gly1380Ser) c.2893G>A (p.Gly965Ser) c.1585-2198C>T (n.1585-2198C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 21 | g.45505167G>C | CA410499438 | COL18A1,SLC19A1 | c.3442G>C (p.Gly1148Arg) c.2902G>C (p.Gly968Arg) c.943G>C (p.Gly315Arg) c.4147G>C (p.Gly1383Arg) c.498-6555C>G c.1294-6555C>G (n.1294-6555C>G) c.3433G>C (p.Gly1145Arg) c.4138G>C (p.Gly1380Arg) c.2893G>C (p.Gly965Arg) c.1585-2198C>G (n.1585-2198C>G) | |
| 21 | g.45505167G= | CA2392191211 | COL18A1,SLC19A1 | c.3442G= (p.Gly1148=) c.2902G= (p.Gly968=) c.943G= (p.Gly315=) c.4147G= (p.Gly1383=) c.498-6555C= c.1294-6555C= (n.1294-6555C=) c.3433G= (p.Gly1145=) c.4138G= (p.Gly1380=) c.2893G= (p.Gly965=) c.1585-2198C= (n.1585-2198C=) | |
| 21 | g.45505167G>T | CA410499439 | COL18A1,SLC19A1 | c.3442G>T (p.Gly1148Cys) c.2902G>T (p.Gly968Cys) c.943G>T (p.Gly315Cys) c.4147G>T (p.Gly1383Cys) c.498-6555C>A c.1294-6555C>A (n.1294-6555C>A) c.3433G>T (p.Gly1145Cys) c.4138G>T (p.Gly1380Cys) c.2893G>T (p.Gly965Cys) c.1585-2198C>A (n.1585-2198C>A) | |
| 21 | g.45505168G>A | CA410499440 | COL18A1,SLC19A1 | c.3443G>A (p.Gly1148Asp) c.2903G>A (p.Gly968Asp) c.944G>A (p.Gly315Asp) c.4148G>A (p.Gly1383Asp) c.498-6556C>T c.1294-6556C>T (n.1294-6556C>T) c.3434G>A (p.Gly1145Asp) c.4139G>A (p.Gly1380Asp) c.2894G>A (p.Gly965Asp) c.1585-2199C>T (n.1585-2199C>T) | gnomAD v4 |
| 21 | g.45505168G>C | CA410499441 | COL18A1,SLC19A1 | c.3443G>C (p.Gly1148Ala) c.2903G>C (p.Gly968Ala) c.944G>C (p.Gly315Ala) c.4148G>C (p.Gly1383Ala) c.498-6556C>G c.1294-6556C>G (n.1294-6556C>G) c.3434G>C (p.Gly1145Ala) c.4139G>C (p.Gly1380Ala) c.2894G>C (p.Gly965Ala) c.1585-2199C>G (n.1585-2199C>G) | gnomAD v4 |
| 21 | g.45505168G>T | CA410499442 | COL18A1,SLC19A1 | c.3443G>T (p.Gly1148Val) c.2903G>T (p.Gly968Val) c.944G>T (p.Gly315Val) c.4148G>T (p.Gly1383Val) c.498-6556C>A c.1294-6556C>A (n.1294-6556C>A) c.3434G>T (p.Gly1145Val) c.4139G>T (p.Gly1380Val) c.2894G>T (p.Gly965Val) c.1585-2199C>A (n.1585-2199C>A) | |
| 21 | g.45505169C>A | CA512687228 | COL18A1,SLC19A1 | c.3444C>A (p.Gly1148=) c.2904C>A (p.Gly968=) c.945C>A (p.Gly315=) c.4149C>A (p.Gly1383=) c.498-6557G>T c.1294-6557G>T (n.1294-6557G>T) c.3435C>A (p.Gly1145=) c.4140C>A (p.Gly1380=) c.2895C>A (p.Gly965=) c.1585-2200G>T (n.1585-2200G>T) | dbSNP |
| 21 | g.45505169C= | CA2392191212 | COL18A1,SLC19A1 | c.3444C= (p.Gly1148=) c.2904C= (p.Gly968=) c.945C= (p.Gly315=) c.4149C= (p.Gly1383=) c.498-6557G= c.1294-6557G= (n.1294-6557G=) c.3435C= (p.Gly1145=) c.4140C= (p.Gly1380=) c.2895C= (p.Gly965=) c.1585-2200G= (n.1585-2200G=) | |
| 21 | g.45505169C>G | CA512687229 | COL18A1,SLC19A1 | c.3444C>G (p.Gly1148=) c.2904C>G (p.Gly968=) c.945C>G (p.Gly315=) c.4149C>G (p.Gly1383=) c.498-6557G>C c.1294-6557G>C (n.1294-6557G>C) c.3435C>G (p.Gly1145=) c.4140C>G (p.Gly1380=) c.2895C>G (p.Gly965=) c.1585-2200G>C (n.1585-2200G>C) | ClinVar dbSNP |
| 21 | g.45505169C>T | CA512687227 | COL18A1,SLC19A1 | c.3444C>T (p.Gly1148=) c.2904C>T (p.Gly968=) c.945C>T (p.Gly315=) c.4149C>T (p.Gly1383=) c.498-6557G>A c.1294-6557G>A (n.1294-6557G>A) c.3435C>T (p.Gly1145=) c.4140C>T (p.Gly1380=) c.2895C>T (p.Gly965=) c.1585-2200G>A (n.1585-2200G>A) | gnomAD v4 |
| 21 | g.45505170C>A | CA410499443 | COL18A1,SLC19A1 | c.3445C>A (p.Pro1149Thr) c.2905C>A (p.Pro969Thr) c.946C>A (p.Pro316Thr) c.4150C>A (p.Pro1384Thr) c.498-6558G>T c.1294-6558G>T (n.1294-6558G>T) c.3436C>A (p.Pro1146Thr) c.4141C>A (p.Pro1381Thr) c.2896C>A (p.Pro966Thr) c.1585-2201G>T (n.1585-2201G>T) | gnomAD v4 |
| 21 | g.45505170C= | CA2392191213 | COL18A1,SLC19A1 | c.3445C= (p.Pro1149=) c.2905C= (p.Pro969=) c.946C= (p.Pro316=) c.4150C= (p.Pro1384=) c.498-6558G= c.1294-6558G= (n.1294-6558G=) c.3436C= (p.Pro1146=) c.4141C= (p.Pro1381=) c.2896C= (p.Pro966=) c.1585-2201G= (n.1585-2201G=) | |
| 21 | g.45505170C>G | CA410499444 | COL18A1,SLC19A1 | c.3445C>G (p.Pro1149Ala) c.2905C>G (p.Pro969Ala) c.946C>G (p.Pro316Ala) c.4150C>G (p.Pro1384Ala) c.498-6558G>C c.1294-6558G>C (n.1294-6558G>C) c.3436C>G (p.Pro1146Ala) c.4141C>G (p.Pro1381Ala) c.2896C>G (p.Pro966Ala) c.1585-2201G>C (n.1585-2201G>C) | |
| 21 | g.45505170C>T | CA321921432 | COL18A1,SLC19A1 | c.3445C>T (p.Pro1149Ser) c.2905C>T (p.Pro969Ser) c.946C>T (p.Pro316Ser) c.4150C>T (p.Pro1384Ser) c.498-6558G>A c.1294-6558G>A (n.1294-6558G>A) c.3436C>T (p.Pro1146Ser) c.4141C>T (p.Pro1381Ser) c.2896C>T (p.Pro966Ser) c.1585-2201G>A (n.1585-2201G>A) | dbSNP gnomAD v4 |
| 21 | g.45505171C>A | CA410499447 | COL18A1,SLC19A1 | c.3446C>A (p.Pro1149Gln) c.2906C>A (p.Pro969Gln) c.947C>A (p.Pro316Gln) c.4151C>A (p.Pro1384Gln) c.498-6559G>T c.1294-6559G>T (n.1294-6559G>T) c.3437C>A (p.Pro1146Gln) c.4142C>A (p.Pro1381Gln) c.2897C>A (p.Pro966Gln) c.1585-2202G>T (n.1585-2202G>T) | |
| 21 | g.45505171C>G | CA410499446 | COL18A1,SLC19A1 | c.3446C>G (p.Pro1149Arg) c.2906C>G (p.Pro969Arg) c.947C>G (p.Pro316Arg) c.4151C>G (p.Pro1384Arg) c.498-6559G>C c.1294-6559G>C (n.1294-6559G>C) c.3437C>G (p.Pro1146Arg) c.4142C>G (p.Pro1381Arg) c.2897C>G (p.Pro966Arg) c.1585-2202G>C (n.1585-2202G>C) | |
| 21 | g.45505171C>T | CA410499445 | COL18A1,SLC19A1 | c.3446C>T (p.Pro1149Leu) c.2906C>T (p.Pro969Leu) c.947C>T (p.Pro316Leu) c.4151C>T (p.Pro1384Leu) c.498-6559G>A c.1294-6559G>A (n.1294-6559G>A) c.3437C>T (p.Pro1146Leu) c.4142C>T (p.Pro1381Leu) c.2897C>T (p.Pro966Leu) c.1585-2202G>A (n.1585-2202G>A) | |
| 21 | g.45505172A= | CA2392191214 | COL18A1,SLC19A1 | c.3447A= (p.Pro1149=) c.2907A= (p.Pro969=) c.948A= (p.Pro316=) c.4152A= (p.Pro1384=) c.498-6560T= c.1294-6560T= (n.1294-6560T=) c.3438A= (p.Pro1146=) c.4143A= (p.Pro1381=) c.2898A= (p.Pro966=) c.1585-2203T= (n.1585-2203T=) | |
| 21 | g.45505172A>C | CA512687232 | COL18A1,SLC19A1 | c.3447A>C (p.Pro1149=) c.2907A>C (p.Pro969=) c.948A>C (p.Pro316=) c.4152A>C (p.Pro1384=) c.498-6560T>G c.1294-6560T>G (n.1294-6560T>G) c.3438A>C (p.Pro1146=) c.4143A>C (p.Pro1381=) c.2898A>C (p.Pro966=) c.1585-2203T>G (n.1585-2203T>G) | dbSNP |
| 21 | g.45505172A>G | CA512687230 | COL18A1,SLC19A1 | c.3447A>G (p.Pro1149=) c.2907A>G (p.Pro969=) c.948A>G (p.Pro316=) c.4152A>G (p.Pro1384=) c.498-6560T>C c.1294-6560T>C (n.1294-6560T>C) c.3438A>G (p.Pro1146=) c.4143A>G (p.Pro1381=) c.2898A>G (p.Pro966=) c.1585-2203T>C (n.1585-2203T>C) | |
| 21 | g.45505172A>T | CA512687231 | COL18A1,SLC19A1 | c.3447A>T (p.Pro1149=) c.2907A>T (p.Pro969=) c.948A>T (p.Pro316=) c.4152A>T (p.Pro1384=) c.498-6560T>A c.1294-6560T>A (n.1294-6560T>A) c.3438A>T (p.Pro1146=) c.4143A>T (p.Pro1381=) c.2898A>T (p.Pro966=) c.1585-2203T>A (n.1585-2203T>A) | |
| 21 | g.45505173C>A | CA10067548 | COL18A1,SLC19A1 | c.3448C>A (p.Pro1150Thr) c.2908C>A (p.Pro970Thr) c.949C>A (p.Pro317Thr) c.4153C>A (p.Pro1385Thr) c.498-6561G>T c.1294-6561G>T (n.1294-6561G>T) c.3439C>A (p.Pro1147Thr) c.4144C>A (p.Pro1382Thr) c.2899C>A (p.Pro967Thr) c.1585-2204G>T (n.1585-2204G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |