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.45505138C>A | CA410499380 | COL18A1,SLC19A1 | c.3413C>A (p.Pro1138His) c.2873C>A (p.Pro958His) c.914C>A (p.Pro305His) c.4118C>A (p.Pro1373His) c.498-6526G>T c.1294-6526G>T (n.1294-6526G>T) c.3404C>A (p.Pro1135His) c.4109C>A (p.Pro1370His) c.2864C>A (p.Pro955His) c.1585-2169G>T (n.1585-2169G>T) | |
| 21 | g.45505138C= | CA2392191192 | COL18A1,SLC19A1 | c.3413C= (p.Pro1138=) c.2873C= (p.Pro958=) c.914C= (p.Pro305=) c.4118C= (p.Pro1373=) c.498-6526G= c.1294-6526G= (n.1294-6526G=) c.3404C= (p.Pro1135=) c.4109C= (p.Pro1370=) c.2864C= (p.Pro955=) c.1585-2169G= (n.1585-2169G=) | |
| 21 | g.45505138C>G | CA410499381 | COL18A1,SLC19A1 | c.3413C>G (p.Pro1138Arg) c.2873C>G (p.Pro958Arg) c.914C>G (p.Pro305Arg) c.4118C>G (p.Pro1373Arg) c.498-6526G>C c.1294-6526G>C (n.1294-6526G>C) c.3404C>G (p.Pro1135Arg) c.4109C>G (p.Pro1370Arg) c.2864C>G (p.Pro955Arg) c.1585-2169G>C (n.1585-2169G>C) | |
| 21 | g.45505138C>T | CA410499382 | COL18A1,SLC19A1 | c.3413C>T (p.Pro1138Leu) c.2873C>T (p.Pro958Leu) c.914C>T (p.Pro305Leu) c.4118C>T (p.Pro1373Leu) c.498-6526G>A c.1294-6526G>A (n.1294-6526G>A) c.3404C>T (p.Pro1135Leu) c.4109C>T (p.Pro1370Leu) c.2864C>T (p.Pro955Leu) c.1585-2169G>A (n.1585-2169G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45505139C>A | CA512687208 | COL18A1,SLC19A1 | c.3414C>A (p.Pro1138=) c.2874C>A (p.Pro958=) c.915C>A (p.Pro305=) c.4119C>A (p.Pro1373=) c.498-6527G>T c.1294-6527G>T (n.1294-6527G>T) c.3405C>A (p.Pro1135=) c.4110C>A (p.Pro1370=) c.2865C>A (p.Pro955=) c.1585-2170G>T (n.1585-2170G>T) | gnomAD v4 |
| 21 | g.45505139C>G | CA512687209 | COL18A1,SLC19A1 | c.3414C>G (p.Pro1138=) c.2874C>G (p.Pro958=) c.915C>G (p.Pro305=) c.4119C>G (p.Pro1373=) c.498-6527G>C c.1294-6527G>C (n.1294-6527G>C) c.3405C>G (p.Pro1135=) c.4110C>G (p.Pro1370=) c.2865C>G (p.Pro955=) c.1585-2170G>C (n.1585-2170G>C) | |
| 21 | g.45505139C>T | CA512687210 | COL18A1,SLC19A1 | c.3414C>T (p.Pro1138=) c.2874C>T (p.Pro958=) c.915C>T (p.Pro305=) c.4119C>T (p.Pro1373=) c.498-6527G>A c.1294-6527G>A (n.1294-6527G>A) c.3405C>T (p.Pro1135=) c.4110C>T (p.Pro1370=) c.2865C>T (p.Pro955=) c.1585-2170G>A (n.1585-2170G>A) | gnomAD v4 |
| 21 | g.45505140A= | CA2392191193 | COL18A1,SLC19A1 | c.3415A= (p.Lys1139=) c.2875A= (p.Lys959=) c.916A= (p.Lys306=) c.4120A= (p.Lys1374=) c.498-6528T= c.1294-6528T= (n.1294-6528T=) c.3406A= (p.Lys1136=) c.4111A= (p.Lys1371=) c.2866A= (p.Lys956=) c.1585-2171T= (n.1585-2171T=) | |
| 21 | g.45505140A>C | CA410499383 | COL18A1,SLC19A1 | c.3415A>C (p.Lys1139Gln) c.2875A>C (p.Lys959Gln) c.916A>C (p.Lys306Gln) c.4120A>C (p.Lys1374Gln) c.498-6528T>G c.1294-6528T>G (n.1294-6528T>G) c.3406A>C (p.Lys1136Gln) c.4111A>C (p.Lys1371Gln) c.2866A>C (p.Lys956Gln) c.1585-2171T>G (n.1585-2171T>G) | |
| 21 | g.45505140A>G | CA321921417 | COL18A1,SLC19A1 | c.3415A>G (p.Lys1139Glu) c.2875A>G (p.Lys959Glu) c.916A>G (p.Lys306Glu) c.4120A>G (p.Lys1374Glu) c.498-6528T>C c.1294-6528T>C (n.1294-6528T>C) c.3406A>G (p.Lys1136Glu) c.4111A>G (p.Lys1371Glu) c.2866A>G (p.Lys956Glu) c.1585-2171T>C (n.1585-2171T>C) | dbSNP |
| 21 | g.45505140A>T | CA410499384 | COL18A1,SLC19A1 | c.3415A>T (p.Lys1139Ter) c.2875A>T (p.Lys959Ter) c.916A>T (p.Lys306Ter) c.4120A>T (p.Lys1374Ter) c.498-6528T>A c.1294-6528T>A (n.1294-6528T>A) c.3406A>T (p.Lys1136Ter) c.4111A>T (p.Lys1371Ter) c.2866A>T (p.Lys956Ter) c.1585-2171T>A (n.1585-2171T>A) | |
| 21 | g.45505141dup | CA2654919176 | COL18A1,SLC19A1 | c.3416dup (p.Glu1141ArgfsTer?) c.2876dup (p.Glu961ArgfsTer?) c.917dup (p.Glu308ArgfsTer?) c.4121dup (p.Glu1376ArgfsTer?) c.498-6528dup c.1294-6528dup (n.1294-6528dup) c.3407dup (p.Glu1138ArgfsTer?) c.4112dup (p.Glu1373ArgfsTer?) c.2867dup (p.Glu958ArgfsTer?) c.1585-2171dup (n.1585-2171dup) | gnomAD v4 |
| 21 | g.45505141A= | CA2392191194 | COL18A1,SLC19A1 | c.3416A= (p.Lys1139=) c.2876A= (p.Lys959=) c.917A= (p.Lys306=) c.4121A= (p.Lys1374=) c.498-6529T= c.1294-6529T= (n.1294-6529T=) c.3407A= (p.Lys1136=) c.4112A= (p.Lys1371=) c.2867A= (p.Lys956=) c.1585-2172T= (n.1585-2172T=) | |
| 21 | g.45505141A>C | CA410499387 | COL18A1,SLC19A1 | c.3416A>C (p.Lys1139Thr) c.2876A>C (p.Lys959Thr) c.917A>C (p.Lys306Thr) c.4121A>C (p.Lys1374Thr) c.498-6529T>G c.1294-6529T>G (n.1294-6529T>G) c.3407A>C (p.Lys1136Thr) c.4112A>C (p.Lys1371Thr) c.2867A>C (p.Lys956Thr) c.1585-2172T>G (n.1585-2172T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45505141A>G | CA410499385 | COL18A1,SLC19A1 | c.3416A>G (p.Lys1139Arg) c.2876A>G (p.Lys959Arg) c.917A>G (p.Lys306Arg) c.4121A>G (p.Lys1374Arg) c.498-6529T>C c.1294-6529T>C (n.1294-6529T>C) c.3407A>G (p.Lys1136Arg) c.4112A>G (p.Lys1371Arg) c.2867A>G (p.Lys956Arg) c.1585-2172T>C (n.1585-2172T>C) | |
| 21 | g.45505141A>T | CA410499386 | COL18A1,SLC19A1 | c.3416A>T (p.Lys1139Met) c.2876A>T (p.Lys959Met) c.917A>T (p.Lys306Met) c.4121A>T (p.Lys1374Met) c.498-6529T>A c.1294-6529T>A (n.1294-6529T>A) c.3407A>T (p.Lys1136Met) c.4112A>T (p.Lys1371Met) c.2867A>T (p.Lys956Met) c.1585-2172T>A (n.1585-2172T>A) | |
| 21 | g.45505142G>A | CA512687211 | COL18A1,SLC19A1 | c.3417G>A (p.Lys1139=) c.2877G>A (p.Lys959=) c.918G>A (p.Lys306=) c.4122G>A (p.Lys1374=) c.498-6530C>T c.1294-6530C>T (n.1294-6530C>T) c.3408G>A (p.Lys1136=) c.4113G>A (p.Lys1371=) c.2868G>A (p.Lys956=) c.1585-2173C>T (n.1585-2173C>T) | gnomAD v4 |
| 21 | g.45505142G>C | CA410499388 | COL18A1,SLC19A1 | c.3417G>C (p.Lys1139Asn) c.2877G>C (p.Lys959Asn) c.918G>C (p.Lys306Asn) c.4122G>C (p.Lys1374Asn) c.498-6530C>G c.1294-6530C>G (n.1294-6530C>G) c.3408G>C (p.Lys1136Asn) c.4113G>C (p.Lys1371Asn) c.2868G>C (p.Lys956Asn) c.1585-2173C>G (n.1585-2173C>G) | |
| 21 | g.45505142G>T | CA410499389 | COL18A1,SLC19A1 | c.3417G>T (p.Lys1139Asn) c.2877G>T (p.Lys959Asn) c.918G>T (p.Lys306Asn) c.4122G>T (p.Lys1374Asn) c.498-6530C>A c.1294-6530C>A (n.1294-6530C>A) c.3408G>T (p.Lys1136Asn) c.4113G>T (p.Lys1371Asn) c.2868G>T (p.Lys956Asn) c.1585-2173C>A (n.1585-2173C>A) | gnomAD v4 |
| 21 | g.45505144dup | CA2654919178 | COL18A1,SLC19A1 | c.3419dup (p.Glu1141ArgfsTer?) c.2879dup (p.Glu961ArgfsTer?) c.920dup (p.Glu308ArgfsTer?) c.4124dup (p.Glu1376ArgfsTer?) c.498-6530dup c.1294-6530dup (n.1294-6530dup) c.3410dup (p.Glu1138ArgfsTer?) c.4115dup (p.Glu1373ArgfsTer?) c.2870dup (p.Glu958ArgfsTer?) c.1585-2173dup (n.1585-2173dup) | gnomAD v4 |
| 21 | g.45505143G>A | CA410499390 | COL18A1,SLC19A1 | c.3418G>A (p.Gly1140Arg) c.2878G>A (p.Gly960Arg) c.919G>A (p.Gly307Arg) c.4123G>A (p.Gly1375Arg) c.498-6531C>T c.1294-6531C>T (n.1294-6531C>T) c.3409G>A (p.Gly1137Arg) c.4114G>A (p.Gly1372Arg) c.2869G>A (p.Gly957Arg) c.1585-2174C>T (n.1585-2174C>T) | |
| 21 | g.45505143G>C | CA410499391 | COL18A1,SLC19A1 | c.3418G>C (p.Gly1140Arg) c.2878G>C (p.Gly960Arg) c.919G>C (p.Gly307Arg) c.4123G>C (p.Gly1375Arg) c.498-6531C>G c.1294-6531C>G (n.1294-6531C>G) c.3409G>C (p.Gly1137Arg) c.4114G>C (p.Gly1372Arg) c.2869G>C (p.Gly957Arg) c.1585-2174C>G (n.1585-2174C>G) | |
| 21 | g.45505143G>T | CA410499392 | COL18A1,SLC19A1 | c.3418G>T (p.Gly1140Ter) c.2878G>T (p.Gly960Ter) c.919G>T (p.Gly307Ter) c.4123G>T (p.Gly1375Ter) c.498-6531C>A c.1294-6531C>A (n.1294-6531C>A) c.3409G>T (p.Gly1137Ter) c.4114G>T (p.Gly1372Ter) c.2869G>T (p.Gly957Ter) c.1585-2174C>A (n.1585-2174C>A) | |
| 21 | g.45505143_45505145delinsGGA | CA2392191195 | COL18A1,SLC19A1 | c.3418_3420delinsGGA (p.Gly1140=) c.2878_2880delinsGGA (p.Gly960=) c.919_921delinsGGA (p.Gly307=) c.4123_4125delinsGGA (p.Gly1375=) c.498-6533_498-6531delinsTCC c.1294-6533_1294-6531delinsTCC (n.1294-6533_1294-6531delinsTCC) c.3409_3411delinsGGA (p.Gly1137=) c.4114_4116delinsGGA (p.Gly1372=) c.2869_2871delinsGGA (p.Gly957=) c.1585-2176_1585-2174delinsTCC (n.1585-2176_1585-2174delinsTCC) | |
| 21 | g.45505144G>A | CA410499393 | COL18A1,SLC19A1 | c.3419G>A (p.Gly1140Glu) c.2879G>A (p.Gly960Glu) c.920G>A (p.Gly307Glu) c.4124G>A (p.Gly1375Glu) c.498-6532C>T c.1294-6532C>T (n.1294-6532C>T) c.3410G>A (p.Gly1137Glu) c.4115G>A (p.Gly1372Glu) c.2870G>A (p.Gly957Glu) c.1585-2175C>T (n.1585-2175C>T) | |
| 21 | g.45505144G>C | CA410499395 | COL18A1,SLC19A1 | c.3419G>C (p.Gly1140Ala) c.2879G>C (p.Gly960Ala) c.920G>C (p.Gly307Ala) c.4124G>C (p.Gly1375Ala) c.498-6532C>G c.1294-6532C>G (n.1294-6532C>G) c.3410G>C (p.Gly1137Ala) c.4115G>C (p.Gly1372Ala) c.2870G>C (p.Gly957Ala) c.1585-2175C>G (n.1585-2175C>G) | |
| 21 | g.45505144G>T | CA410499394 | COL18A1,SLC19A1 | c.3419G>T (p.Gly1140Val) c.2879G>T (p.Gly960Val) c.920G>T (p.Gly307Val) c.4124G>T (p.Gly1375Val) c.498-6532C>A c.1294-6532C>A (n.1294-6532C>A) c.3410G>T (p.Gly1137Val) c.4115G>T (p.Gly1372Val) c.2870G>T (p.Gly957Val) c.1585-2175C>A (n.1585-2175C>A) | |
| 21 | g.45505149_45505150del | CA638497267 | COL18A1,SLC19A1 | c.3424_3425del (p.Ser1142HisfsTer?) c.2884_2885del (p.Ser962HisfsTer?) c.925_926del (p.Ser309HisfsTer?) c.4129_4130del (p.Ser1377HisfsTer?) c.498-6533_498-6532del c.1294-6533_1294-6532del (n.1294-6533_1294-6532del) c.3415_3416del (p.Ser1139HisfsTer?) c.4120_4121del (p.Ser1374HisfsTer?) c.2875_2876del (p.Ser959HisfsTer?) c.1585-2176_1585-2175del (n.1585-2176_1585-2175del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45505145A>C | CA512687212 | COL18A1,SLC19A1 | c.3420A>C (p.Gly1140=) c.2880A>C (p.Gly960=) c.921A>C (p.Gly307=) c.4125A>C (p.Gly1375=) c.498-6533T>G c.1294-6533T>G (n.1294-6533T>G) c.3411A>C (p.Gly1137=) c.4116A>C (p.Gly1372=) c.2871A>C (p.Gly957=) c.1585-2176T>G (n.1585-2176T>G) | gnomAD v4 |
| 21 | g.45505145A>G | CA512687213 | COL18A1,SLC19A1 | c.3420A>G (p.Gly1140=) c.2880A>G (p.Gly960=) c.921A>G (p.Gly307=) c.4125A>G (p.Gly1375=) c.498-6533T>C c.1294-6533T>C (n.1294-6533T>C) c.3411A>G (p.Gly1137=) c.4116A>G (p.Gly1372=) c.2871A>G (p.Gly957=) c.1585-2176T>C (n.1585-2176T>C) | ClinVar dbSNP gnomAD v4 |
| 21 | g.45505145A>T | CA512687214 | COL18A1,SLC19A1 | c.3420A>T (p.Gly1140=) c.2880A>T (p.Gly960=) c.921A>T (p.Gly307=) c.4125A>T (p.Gly1375=) c.498-6533T>A c.1294-6533T>A (n.1294-6533T>A) c.3411A>T (p.Gly1137=) c.4116A>T (p.Gly1372=) c.2871A>T (p.Gly957=) c.1585-2176T>A (n.1585-2176T>A) | |
| 21 | g.45505146G>A | CA410499396 | COL18A1,SLC19A1 | c.3421G>A (p.Glu1141Lys) c.2881G>A (p.Glu961Lys) c.922G>A (p.Glu308Lys) c.4126G>A (p.Glu1376Lys) c.498-6534C>T c.1294-6534C>T (n.1294-6534C>T) c.3412G>A (p.Glu1138Lys) c.4117G>A (p.Glu1373Lys) c.2872G>A (p.Glu958Lys) c.1585-2177C>T (n.1585-2177C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45505146G>C | CA410499397 | COL18A1,SLC19A1 | c.3421G>C (p.Glu1141Gln) c.2881G>C (p.Glu961Gln) c.922G>C (p.Glu308Gln) c.4126G>C (p.Glu1376Gln) c.498-6534C>G c.1294-6534C>G (n.1294-6534C>G) c.3412G>C (p.Glu1138Gln) c.4117G>C (p.Glu1373Gln) c.2872G>C (p.Glu958Gln) c.1585-2177C>G (n.1585-2177C>G) | |
| 21 | g.45505146G= | CA2392191196 | COL18A1,SLC19A1 | c.3421G= (p.Glu1141=) c.2881G= (p.Glu961=) c.922G= (p.Glu308=) c.4126G= (p.Glu1376=) c.498-6534C= c.1294-6534C= (n.1294-6534C=) c.3412G= (p.Glu1138=) c.4117G= (p.Glu1373=) c.2872G= (p.Glu958=) c.1585-2177C= (n.1585-2177C=) | |
| 21 | g.45505146G>T | CA410499398 | COL18A1,SLC19A1 | c.3421G>T (p.Glu1141Ter) c.2881G>T (p.Glu961Ter) c.922G>T (p.Glu308Ter) c.4126G>T (p.Glu1376Ter) c.498-6534C>A c.1294-6534C>A (n.1294-6534C>A) c.3412G>T (p.Glu1138Ter) c.4117G>T (p.Glu1373Ter) c.2872G>T (p.Glu958Ter) c.1585-2177C>A (n.1585-2177C>A) | |
| 21 | g.45505147A= | CA2392191197 | COL18A1,SLC19A1 | c.3422A= (p.Glu1141=) c.2882A= (p.Glu961=) c.923A= (p.Glu308=) c.4127A= (p.Glu1376=) c.498-6535T= c.1294-6535T= (n.1294-6535T=) c.3413A= (p.Glu1138=) c.4118A= (p.Glu1373=) c.2873A= (p.Glu958=) c.1585-2178T= (n.1585-2178T=) | |
| 21 | g.45505147A>C | CA410499399 | COL18A1,SLC19A1 | c.3422A>C (p.Glu1141Ala) c.2882A>C (p.Glu961Ala) c.923A>C (p.Glu308Ala) c.4127A>C (p.Glu1376Ala) c.498-6535T>G c.1294-6535T>G (n.1294-6535T>G) c.3413A>C (p.Glu1138Ala) c.4118A>C (p.Glu1373Ala) c.2873A>C (p.Glu958Ala) c.1585-2178T>G (n.1585-2178T>G) | gnomAD v4 |
| 21 | g.45505147A>G | CA410499400 | COL18A1,SLC19A1 | c.3422A>G (p.Glu1141Gly) c.2882A>G (p.Glu961Gly) c.923A>G (p.Glu308Gly) c.4127A>G (p.Glu1376Gly) c.498-6535T>C c.1294-6535T>C (n.1294-6535T>C) c.3413A>G (p.Glu1138Gly) c.4118A>G (p.Glu1373Gly) c.2873A>G (p.Glu958Gly) c.1585-2178T>C (n.1585-2178T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45505147A>T | CA410499401 | COL18A1,SLC19A1 | c.3422A>T (p.Glu1141Val) c.2882A>T (p.Glu961Val) c.923A>T (p.Glu308Val) c.4127A>T (p.Glu1376Val) c.498-6535T>A c.1294-6535T>A (n.1294-6535T>A) c.3413A>T (p.Glu1138Val) c.4118A>T (p.Glu1373Val) c.2873A>T (p.Glu958Val) c.1585-2178T>A (n.1585-2178T>A) | |
| 21 | g.45505148G>A | CA512687215 | COL18A1,SLC19A1 | c.3423G>A (p.Glu1141=) c.2883G>A (p.Glu961=) c.924G>A (p.Glu308=) c.4128G>A (p.Glu1376=) c.498-6536C>T c.1294-6536C>T (n.1294-6536C>T) c.3414G>A (p.Glu1138=) c.4119G>A (p.Glu1373=) c.2874G>A (p.Glu958=) c.1585-2179C>T (n.1585-2179C>T) | ClinVar dbSNP |
| 21 | g.45505148G>C | CA410499402 | COL18A1,SLC19A1 | c.3423G>C (p.Glu1141Asp) c.2883G>C (p.Glu961Asp) c.924G>C (p.Glu308Asp) c.4128G>C (p.Glu1376Asp) c.498-6536C>G c.1294-6536C>G (n.1294-6536C>G) c.3414G>C (p.Glu1138Asp) c.4119G>C (p.Glu1373Asp) c.2874G>C (p.Glu958Asp) c.1585-2179C>G (n.1585-2179C>G) | ClinVar |
| 21 | g.45505148G= | CA2392191198 | COL18A1,SLC19A1 | c.3423G= (p.Glu1141=) c.2883G= (p.Glu961=) c.924G= (p.Glu308=) c.4128G= (p.Glu1376=) c.498-6536C= c.1294-6536C= (n.1294-6536C=) c.3414G= (p.Glu1138=) c.4119G= (p.Glu1373=) c.2874G= (p.Glu958=) c.1585-2179C= (n.1585-2179C=) | |
| 21 | g.45505148G>T | CA410499403 | COL18A1,SLC19A1 | c.3423G>T (p.Glu1141Asp) c.2883G>T (p.Glu961Asp) c.924G>T (p.Glu308Asp) c.4128G>T (p.Glu1376Asp) c.498-6536C>A c.1294-6536C>A (n.1294-6536C>A) c.3414G>T (p.Glu1138Asp) c.4119G>T (p.Glu1373Asp) c.2874G>T (p.Glu958Asp) c.1585-2179C>A (n.1585-2179C>A) | gnomAD v4 |
| 21 | g.45505149A>C | CA410499404 | COL18A1,SLC19A1 | c.3424A>C (p.Ser1142Arg) c.2884A>C (p.Ser962Arg) c.925A>C (p.Ser309Arg) c.4129A>C (p.Ser1377Arg) c.498-6537T>G c.1294-6537T>G (n.1294-6537T>G) c.3415A>C (p.Ser1139Arg) c.4120A>C (p.Ser1374Arg) c.2875A>C (p.Ser959Arg) c.1585-2180T>G (n.1585-2180T>G) | |
| 21 | g.45505149A>G | CA410499405 | COL18A1,SLC19A1 | c.3424A>G (p.Ser1142Gly) c.2884A>G (p.Ser962Gly) c.925A>G (p.Ser309Gly) c.4129A>G (p.Ser1377Gly) c.498-6537T>C c.1294-6537T>C (n.1294-6537T>C) c.3415A>G (p.Ser1139Gly) c.4120A>G (p.Ser1374Gly) c.2875A>G (p.Ser959Gly) c.1585-2180T>C (n.1585-2180T>C) | gnomAD v4 |
| 21 | g.45505149A>T | CA410499406 | COL18A1,SLC19A1 | c.3424A>T (p.Ser1142Cys) c.2884A>T (p.Ser962Cys) c.925A>T (p.Ser309Cys) c.4129A>T (p.Ser1377Cys) c.498-6537T>A c.1294-6537T>A (n.1294-6537T>A) c.3415A>T (p.Ser1139Cys) c.4120A>T (p.Ser1374Cys) c.2875A>T (p.Ser959Cys) c.1585-2180T>A (n.1585-2180T>A) | |
| 21 | g.45505150G>A | CA410499407 | COL18A1,SLC19A1 | c.3425G>A (p.Ser1142Asn) c.2885G>A (p.Ser962Asn) c.926G>A (p.Ser309Asn) c.4130G>A (p.Ser1377Asn) c.498-6538C>T c.1294-6538C>T (n.1294-6538C>T) c.3416G>A (p.Ser1139Asn) c.4121G>A (p.Ser1374Asn) c.2876G>A (p.Ser959Asn) c.1585-2181C>T (n.1585-2181C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.45505150G>C | CA410499409 | COL18A1,SLC19A1 | c.3425G>C (p.Ser1142Thr) c.2885G>C (p.Ser962Thr) c.926G>C (p.Ser309Thr) c.4130G>C (p.Ser1377Thr) c.498-6538C>G c.1294-6538C>G (n.1294-6538C>G) c.3416G>C (p.Ser1139Thr) c.4121G>C (p.Ser1374Thr) c.2876G>C (p.Ser959Thr) c.1585-2181C>G (n.1585-2181C>G) | |
| 21 | g.45505150G= | CA2392191199 | COL18A1,SLC19A1 | c.3425G= (p.Ser1142=) c.2885G= (p.Ser962=) c.926G= (p.Ser309=) c.4130G= (p.Ser1377=) c.498-6538C= c.1294-6538C= (n.1294-6538C=) c.3416G= (p.Ser1139=) c.4121G= (p.Ser1374=) c.2876G= (p.Ser959=) c.1585-2181C= (n.1585-2181C=) | |
| 21 | g.45505150G>T | CA410499408 | COL18A1,SLC19A1 | c.3425G>T (p.Ser1142Ile) c.2885G>T (p.Ser962Ile) c.926G>T (p.Ser309Ile) c.4130G>T (p.Ser1377Ile) c.498-6538C>A c.1294-6538C>A (n.1294-6538C>A) c.3416G>T (p.Ser1139Ile) c.4121G>T (p.Ser1374Ile) c.2876G>T (p.Ser959Ile) c.1585-2181C>A (n.1585-2181C>A) |