| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) | 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) | |
| 21 | g.45505151C>A | CA410499410 | COL18A1,SLC19A1 | c.3426C>A (p.Ser1142Arg) c.2886C>A (p.Ser962Arg) c.927C>A (p.Ser309Arg) c.4131C>A (p.Ser1377Arg) c.498-6539G>T c.1294-6539G>T (n.1294-6539G>T) c.3417C>A (p.Ser1139Arg) c.4122C>A (p.Ser1374Arg) c.2877C>A (p.Ser959Arg) c.1585-2182G>T (n.1585-2182G>T) | gnomAD v4 |
| 21 | g.45505151C= | CA2392191200 | COL18A1,SLC19A1 | c.3426C= (p.Ser1142=) c.2886C= (p.Ser962=) c.927C= (p.Ser309=) c.4131C= (p.Ser1377=) c.498-6539G= c.1294-6539G= (n.1294-6539G=) c.3417C= (p.Ser1139=) c.4122C= (p.Ser1374=) c.2877C= (p.Ser959=) c.1585-2182G= (n.1585-2182G=) | |
| 21 | g.45505151C>G | CA410499411 | COL18A1,SLC19A1 | c.3426C>G (p.Ser1142Arg) c.2886C>G (p.Ser962Arg) c.927C>G (p.Ser309Arg) c.4131C>G (p.Ser1377Arg) c.498-6539G>C c.1294-6539G>C (n.1294-6539G>C) c.3417C>G (p.Ser1139Arg) c.4122C>G (p.Ser1374Arg) c.2877C>G (p.Ser959Arg) c.1585-2182G>C (n.1585-2182G>C) | |
| 21 | g.45505151C>T | CA321921419 | COL18A1,SLC19A1 | c.3426C>T (p.Ser1142=) c.2886C>T (p.Ser962=) c.927C>T (p.Ser309=) c.4131C>T (p.Ser1377=) c.498-6539G>A c.1294-6539G>A (n.1294-6539G>A) c.3417C>T (p.Ser1139=) c.4122C>T (p.Ser1374=) c.2877C>T (p.Ser959=) c.1585-2182G>A (n.1585-2182G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45505152A>C | CA410499412 | COL18A1,SLC19A1 | c.3427A>C (p.Ile1143Leu) c.2887A>C (p.Ile963Leu) c.928A>C (p.Ile310Leu) c.4132A>C (p.Ile1378Leu) c.498-6540T>G c.1294-6540T>G (n.1294-6540T>G) c.3418A>C (p.Ile1140Leu) c.4123A>C (p.Ile1375Leu) c.2878A>C (p.Ile960Leu) c.1585-2183T>G (n.1585-2183T>G) | |
| 21 | g.45505152A>G | CA410499414 | COL18A1,SLC19A1 | c.3427A>G (p.Ile1143Val) c.2887A>G (p.Ile963Val) c.928A>G (p.Ile310Val) c.4132A>G (p.Ile1378Val) c.498-6540T>C c.1294-6540T>C (n.1294-6540T>C) c.3418A>G (p.Ile1140Val) c.4123A>G (p.Ile1375Val) c.2878A>G (p.Ile960Val) c.1585-2183T>C (n.1585-2183T>C) | |
| 21 | g.45505152A>T | CA410499413 | COL18A1,SLC19A1 | c.3427A>T (p.Ile1143Phe) c.2887A>T (p.Ile963Phe) c.928A>T (p.Ile310Phe) c.4132A>T (p.Ile1378Phe) c.498-6540T>A c.1294-6540T>A (n.1294-6540T>A) c.3418A>T (p.Ile1140Phe) c.4123A>T (p.Ile1375Phe) c.2878A>T (p.Ile960Phe) c.1585-2183T>A (n.1585-2183T>A) | ClinVar dbSNP |
| 21 | g.45505153T>A | CA410499415 | COL18A1,SLC19A1 | c.3428T>A (p.Ile1143Asn) c.2888T>A (p.Ile963Asn) c.929T>A (p.Ile310Asn) c.4133T>A (p.Ile1378Asn) c.498-6541A>T c.1294-6541A>T (n.1294-6541A>T) c.3419T>A (p.Ile1140Asn) c.4124T>A (p.Ile1375Asn) c.2879T>A (p.Ile960Asn) c.1585-2184A>T (n.1585-2184A>T) | |
| 21 | g.45505153T>C | CA410499416 | COL18A1,SLC19A1 | c.3428T>C (p.Ile1143Thr) c.2888T>C (p.Ile963Thr) c.929T>C (p.Ile310Thr) c.4133T>C (p.Ile1378Thr) c.498-6541A>G c.1294-6541A>G (n.1294-6541A>G) c.3419T>C (p.Ile1140Thr) c.4124T>C (p.Ile1375Thr) c.2879T>C (p.Ile960Thr) c.1585-2184A>G (n.1585-2184A>G) | |
| 21 | g.45505153T>G | CA410499417 | COL18A1,SLC19A1 | c.3428T>G (p.Ile1143Ser) c.2888T>G (p.Ile963Ser) c.929T>G (p.Ile310Ser) c.4133T>G (p.Ile1378Ser) c.498-6541A>C c.1294-6541A>C (n.1294-6541A>C) c.3419T>G (p.Ile1140Ser) c.4124T>G (p.Ile1375Ser) c.2879T>G (p.Ile960Ser) c.1585-2184A>C (n.1585-2184A>C) | |
| 21 | g.45505154C>A | CA512687216 | COL18A1,SLC19A1 | c.3429C>A (p.Ile1143=) c.2889C>A (p.Ile963=) c.930C>A (p.Ile310=) c.4134C>A (p.Ile1378=) c.498-6542G>T c.1294-6542G>T (n.1294-6542G>T) c.3420C>A (p.Ile1140=) c.4125C>A (p.Ile1375=) c.2880C>A (p.Ile960=) c.1585-2185G>T (n.1585-2185G>T) | gnomAD v4 |
| 21 | g.45505154C>G | CA410499418 | COL18A1,SLC19A1 | c.3429C>G (p.Ile1143Met) c.2889C>G (p.Ile963Met) c.930C>G (p.Ile310Met) c.4134C>G (p.Ile1378Met) c.498-6542G>C c.1294-6542G>C (n.1294-6542G>C) c.3420C>G (p.Ile1140Met) c.4125C>G (p.Ile1375Met) c.2880C>G (p.Ile960Met) c.1585-2185G>C (n.1585-2185G>C) | |
| 21 | g.45505154C>T | CA512687217 | COL18A1,SLC19A1 | c.3429C>T (p.Ile1143=) c.2889C>T (p.Ile963=) c.930C>T (p.Ile310=) c.4134C>T (p.Ile1378=) c.498-6542G>A c.1294-6542G>A (n.1294-6542G>A) c.3420C>T (p.Ile1140=) c.4125C>T (p.Ile1375=) c.2880C>T (p.Ile960=) c.1585-2185G>A (n.1585-2185G>A) | gnomAD v4 |
| 21 | g.45505155C>A | CA512687218 | COL18A1,SLC19A1 | c.3430C>A (p.Arg1144=) c.2890C>A (p.Arg964=) c.931C>A (p.Arg311=) c.4135C>A (p.Arg1379=) c.498-6543G>T c.1294-6543G>T (n.1294-6543G>T) c.3421C>A (p.Arg1141=) c.4126C>A (p.Arg1376=) c.2881C>A (p.Arg961=) c.1585-2186G>T (n.1585-2186G>T) | |
| 21 | g.45505155C= | CA2392191201 | COL18A1,SLC19A1 | c.3430C= (p.Arg1144=) c.2890C= (p.Arg964=) c.931C= (p.Arg311=) c.4135C= (p.Arg1379=) c.498-6543G= c.1294-6543G= (n.1294-6543G=) c.3421C= (p.Arg1141=) c.4126C= (p.Arg1376=) c.2881C= (p.Arg961=) c.1585-2186G= (n.1585-2186G=) | |
| 21 | g.45505155C>G | CA410499419 | COL18A1,SLC19A1 | c.3430C>G (p.Arg1144Gly) c.2890C>G (p.Arg964Gly) c.931C>G (p.Arg311Gly) c.4135C>G (p.Arg1379Gly) c.498-6543G>C c.1294-6543G>C (n.1294-6543G>C) c.3421C>G (p.Arg1141Gly) c.4126C>G (p.Arg1376Gly) c.2881C>G (p.Arg961Gly) c.1585-2186G>C (n.1585-2186G>C) | gnomAD v4 |
| 21 | g.45505155C>T | CA10067540 | COL18A1,SLC19A1 | c.3430C>T (p.Arg1144Trp) c.2890C>T (p.Arg964Trp) c.931C>T (p.Arg311Trp) c.4135C>T (p.Arg1379Trp) c.498-6543G>A c.1294-6543G>A (n.1294-6543G>A) c.3421C>T (p.Arg1141Trp) c.4126C>T (p.Arg1376Trp) c.2881C>T (p.Arg961Trp) c.1585-2186G>A (n.1585-2186G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45505156G>A | CA10067541 | COL18A1,SLC19A1 | c.3431G>A (p.Arg1144Gln) c.2891G>A (p.Arg964Gln) c.932G>A (p.Arg311Gln) c.4136G>A (p.Arg1379Gln) c.498-6544C>T c.1294-6544C>T (n.1294-6544C>T) c.3422G>A (p.Arg1141Gln) c.4127G>A (p.Arg1376Gln) c.2882G>A (p.Arg961Gln) c.1585-2187C>T (n.1585-2187C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45505156G>C | CA321921423 | COL18A1,SLC19A1 | c.3431G>C (p.Arg1144Pro) c.2891G>C (p.Arg964Pro) c.932G>C (p.Arg311Pro) c.4136G>C (p.Arg1379Pro) c.498-6544C>G c.1294-6544C>G (n.1294-6544C>G) c.3422G>C (p.Arg1141Pro) c.4127G>C (p.Arg1376Pro) c.2882G>C (p.Arg961Pro) c.1585-2187C>G (n.1585-2187C>G) | dbSNP |
| 21 | g.45505156G= | CA2392191202 | COL18A1,SLC19A1 | c.3431G= (p.Arg1144=) c.2891G= (p.Arg964=) c.932G= (p.Arg311=) c.4136G= (p.Arg1379=) c.498-6544C= c.1294-6544C= (n.1294-6544C=) c.3422G= (p.Arg1141=) c.4127G= (p.Arg1376=) c.2882G= (p.Arg961=) c.1585-2187C= (n.1585-2187C=) | |
| 21 | g.45505156G>T | CA410499420 | COL18A1,SLC19A1 | c.3431G>T (p.Arg1144Leu) c.2891G>T (p.Arg964Leu) c.932G>T (p.Arg311Leu) c.4136G>T (p.Arg1379Leu) c.498-6544C>A c.1294-6544C>A (n.1294-6544C>A) c.3422G>T (p.Arg1141Leu) c.4127G>T (p.Arg1376Leu) c.2882G>T (p.Arg961Leu) c.1585-2187C>A (n.1585-2187C>A) | gnomAD v4 |
| 21 | g.45505159dup | CA2654919194 | COL18A1,SLC19A1 | c.3434dup (p.Gln1146ProfsTer?) c.2894dup (p.Gln966ProfsTer?) c.935dup (p.Gln313ProfsTer?) c.4139dup (p.Gln1381ProfsTer?) c.498-6544dup c.1294-6544dup (n.1294-6544dup) c.3425dup (p.Gln1143ProfsTer?) c.4130dup (p.Gln1378ProfsTer?) c.2885dup (p.Gln963ProfsTer?) c.1585-2187dup (n.1585-2187dup) | gnomAD v4 |