Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
21 | g.45505157G>A | CA512687219 | COL18A1,SLC19A1 | c.3432G>A (p.Arg1144=) c.2892G>A (p.Arg964=) c.933G>A (p.Arg311=) c.4137G>A (p.Arg1379=) c.498-6545C>T c.1294-6545C>T (n.1294-6545C>T) c.3423G>A (p.Arg1141=) c.4128G>A (p.Arg1376=) c.2883G>A (p.Arg961=) c.1585-2188C>T (n.1585-2188C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.45505157G>C | CA512687220 | COL18A1,SLC19A1 | c.3432G>C (p.Arg1144=) c.2892G>C (p.Arg964=) c.933G>C (p.Arg311=) c.4137G>C (p.Arg1379=) c.498-6545C>G c.1294-6545C>G (n.1294-6545C>G) c.3423G>C (p.Arg1141=) c.4128G>C (p.Arg1376=) c.2883G>C (p.Arg961=) c.1585-2188C>G (n.1585-2188C>G) | |
21 | g.45505157G= | CA2392191203 | COL18A1,SLC19A1 | c.3432G= (p.Arg1144=) c.2892G= (p.Arg964=) c.933G= (p.Arg311=) c.4137G= (p.Arg1379=) c.498-6545C= c.1294-6545C= (n.1294-6545C=) c.3423G= (p.Arg1141=) c.4128G= (p.Arg1376=) c.2883G= (p.Arg961=) c.1585-2188C= (n.1585-2188C=) | |
21 | g.45505157G>T | CA512687221 | COL18A1,SLC19A1 | c.3432G>T (p.Arg1144=) c.2892G>T (p.Arg964=) c.933G>T (p.Arg311=) c.4137G>T (p.Arg1379=) c.498-6545C>A c.1294-6545C>A (n.1294-6545C>A) c.3423G>T (p.Arg1141=) c.4128G>T (p.Arg1376=) c.2883G>T (p.Arg961=) c.1585-2188C>A (n.1585-2188C>A) | gnomAD v4 |
21 | g.45505158G>A | CA10067542 | COL18A1,SLC19A1 | c.3433G>A (p.Gly1145Ser) c.2893G>A (p.Gly965Ser) c.934G>A (p.Gly312Ser) c.4138G>A (p.Gly1380Ser) c.498-6546C>T c.1294-6546C>T (n.1294-6546C>T) c.3424G>A (p.Gly1142Ser) c.4129G>A (p.Gly1377Ser) c.2884G>A (p.Gly962Ser) c.1585-2189C>T (n.1585-2189C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45505158G>C | CA410499421 | COL18A1,SLC19A1 | c.3433G>C (p.Gly1145Arg) c.2893G>C (p.Gly965Arg) c.934G>C (p.Gly312Arg) c.4138G>C (p.Gly1380Arg) c.498-6546C>G c.1294-6546C>G (n.1294-6546C>G) c.3424G>C (p.Gly1142Arg) c.4129G>C (p.Gly1377Arg) c.2884G>C (p.Gly962Arg) c.1585-2189C>G (n.1585-2189C>G) | |
21 | g.45505158G= | CA2392191204 | COL18A1,SLC19A1 | c.3433G= (p.Gly1145=) c.2893G= (p.Gly965=) c.934G= (p.Gly312=) c.4138G= (p.Gly1380=) c.498-6546C= c.1294-6546C= (n.1294-6546C=) c.3424G= (p.Gly1142=) c.4129G= (p.Gly1377=) c.2884G= (p.Gly962=) c.1585-2189C= (n.1585-2189C=) | |
21 | g.45505158G>T | CA410499422 | COL18A1,SLC19A1 | c.3433G>T (p.Gly1145Cys) c.2893G>T (p.Gly965Cys) c.934G>T (p.Gly312Cys) c.4138G>T (p.Gly1380Cys) c.498-6546C>A c.1294-6546C>A (n.1294-6546C>A) c.3424G>T (p.Gly1142Cys) c.4129G>T (p.Gly1377Cys) c.2884G>T (p.Gly962Cys) c.1585-2189C>A (n.1585-2189C>A) | |
21 | g.45505159G>A | CA410499423 | COL18A1,SLC19A1 | c.3434G>A (p.Gly1145Asp) c.2894G>A (p.Gly965Asp) c.935G>A (p.Gly312Asp) c.4139G>A (p.Gly1380Asp) c.498-6547C>T c.1294-6547C>T (n.1294-6547C>T) c.3425G>A (p.Gly1142Asp) c.4130G>A (p.Gly1377Asp) c.2885G>A (p.Gly962Asp) c.1585-2190C>T (n.1585-2190C>T) | dbSNP |
21 | g.45505159G>C | CA410499425 | COL18A1,SLC19A1 | c.3434G>C (p.Gly1145Ala) c.2894G>C (p.Gly965Ala) c.935G>C (p.Gly312Ala) c.4139G>C (p.Gly1380Ala) c.498-6547C>G c.1294-6547C>G (n.1294-6547C>G) c.3425G>C (p.Gly1142Ala) c.4130G>C (p.Gly1377Ala) c.2885G>C (p.Gly962Ala) c.1585-2190C>G (n.1585-2190C>G) | |
21 | g.45505159G= | CA2392191205 | COL18A1,SLC19A1 | c.3434G= (p.Gly1145=) c.2894G= (p.Gly965=) c.935G= (p.Gly312=) c.4139G= (p.Gly1380=) c.498-6547C= c.1294-6547C= (n.1294-6547C=) c.3425G= (p.Gly1142=) c.4130G= (p.Gly1377=) c.2885G= (p.Gly962=) c.1585-2190C= (n.1585-2190C=) | |
21 | g.45505159G>T | CA410499424 | COL18A1,SLC19A1 | c.3434G>T (p.Gly1145Val) c.2894G>T (p.Gly965Val) c.935G>T (p.Gly312Val) c.4139G>T (p.Gly1380Val) c.498-6547C>A c.1294-6547C>A (n.1294-6547C>A) c.3425G>T (p.Gly1142Val) c.4130G>T (p.Gly1377Val) c.2885G>T (p.Gly962Val) c.1585-2190C>A (n.1585-2190C>A) |