WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45512302_45512323del | CA2577627318 | COL18A1,SLC19A1 | c.4464_4485del (p.Leu1489ArgfsTer20) c.3924_3945del (p.Leu1309ArgfsTer20) c.1968_1989del (p.Leu657ArgfsTer20) c.5169_5190del (p.Leu1724ArgfsTer20) c.497+13494_497+13515del n.2250_2271del c.1293+13494_1293+13515del (n.1293+13494_1293+13515del) c.4455_4476del (p.Leu1486ArgfsTer20) c.5160_5181del (p.Leu1721ArgfsTer20) c.3915_3936del (p.Leu1306ArgfsTer20) c.1585-9354_1585-9333del (n.1585-9354_1585-9333del) | |
| 21 | g.45512314G>A | CA513168690 | COL18A1,SLC19A1 | c.4476G>A (p.Arg1492=) c.3936G>A (p.Arg1312=) c.1980G>A (p.Arg660=) c.5181G>A (p.Arg1727=) c.497+13503C>T n.2262G>A c.1293+13503C>T (n.1293+13503C>T) c.4467G>A (p.Arg1489=) c.5172G>A (p.Arg1724=) c.3927G>A (p.Arg1309=) c.1585-9345C>T (n.1585-9345C>T) | |
| 21 | g.45512314G>C | CA410502347 | COL18A1,SLC19A1 | c.4476G>C (p.Arg1492Ser) c.3936G>C (p.Arg1312Ser) c.1980G>C (p.Arg660Ser) c.5181G>C (p.Arg1727Ser) c.497+13503C>G n.2262G>C c.1293+13503C>G (n.1293+13503C>G) c.4467G>C (p.Arg1489Ser) c.5172G>C (p.Arg1724Ser) c.3927G>C (p.Arg1309Ser) c.1585-9345C>G (n.1585-9345C>G) | |
| 21 | g.45512314G>T | CA410502348 | COL18A1,SLC19A1 | c.4476G>T (p.Arg1492Ser) c.3936G>T (p.Arg1312Ser) c.1980G>T (p.Arg660Ser) c.5181G>T (p.Arg1727Ser) c.497+13503C>A n.2262G>T c.1293+13503C>A (n.1293+13503C>A) c.4467G>T (p.Arg1489Ser) c.5172G>T (p.Arg1724Ser) c.3927G>T (p.Arg1309Ser) c.1585-9345C>A (n.1585-9345C>A) | |
| 21 | g.45512315C>A | CA10068140 | COL18A1,SLC19A1 | c.4477C>A (p.Leu1493Ile) c.3937C>A (p.Leu1313Ile) c.1981C>A (p.Leu661Ile) c.5182C>A (p.Leu1728Ile) c.497+13502G>T n.2263C>A c.1293+13502G>T (n.1293+13502G>T) c.4468C>A (p.Leu1490Ile) c.5173C>A (p.Leu1725Ile) c.3928C>A (p.Leu1310Ile) c.1585-9346G>T (n.1585-9346G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45512315C= | CA2392196619 | COL18A1,SLC19A1 | c.4477C= (p.Leu1493=) c.3937C= (p.Leu1313=) c.1981C= (p.Leu661=) c.5182C= (p.Leu1728=) c.497+13502G= n.2263C= c.1293+13502G= (n.1293+13502G=) c.4468C= (p.Leu1490=) c.5173C= (p.Leu1725=) c.3928C= (p.Leu1310=) c.1585-9346G= (n.1585-9346G=) | |
| 21 | g.45512315C>G | CA410502349 | COL18A1,SLC19A1 | c.4477C>G (p.Leu1493Val) c.3937C>G (p.Leu1313Val) c.1981C>G (p.Leu661Val) c.5182C>G (p.Leu1728Val) c.497+13502G>C n.2263C>G c.1293+13502G>C (n.1293+13502G>C) c.4468C>G (p.Leu1490Val) c.5173C>G (p.Leu1725Val) c.3928C>G (p.Leu1310Val) c.1585-9346G>C (n.1585-9346G>C) | |
| 21 | g.45512315C>T | CA410502350 | COL18A1,SLC19A1 | c.4477C>T (p.Leu1493Phe) c.3937C>T (p.Leu1313Phe) c.1981C>T (p.Leu661Phe) c.5182C>T (p.Leu1728Phe) c.497+13502G>A n.2263C>T c.1293+13502G>A (n.1293+13502G>A) c.4468C>T (p.Leu1490Phe) c.5173C>T (p.Leu1725Phe) c.3928C>T (p.Leu1310Phe) c.1585-9346G>A (n.1585-9346G>A) | |
| 21 | g.45512316T>A | CA410502351 | COL18A1,SLC19A1 | c.4478T>A (p.Leu1493His) c.3938T>A (p.Leu1313His) c.1982T>A (p.Leu661His) c.5183T>A (p.Leu1728His) c.497+13501A>T n.2264T>A c.1293+13501A>T (n.1293+13501A>T) c.4469T>A (p.Leu1490His) c.5174T>A (p.Leu1725His) c.3929T>A (p.Leu1310His) c.1585-9347A>T (n.1585-9347A>T) | |
| 21 | g.45512316T>C | CA410502352 | COL18A1,SLC19A1 | c.4478T>C (p.Leu1493Pro) c.3938T>C (p.Leu1313Pro) c.1982T>C (p.Leu661Pro) c.5183T>C (p.Leu1728Pro) c.497+13501A>G n.2264T>C c.1293+13501A>G (n.1293+13501A>G) c.4469T>C (p.Leu1490Pro) c.5174T>C (p.Leu1725Pro) c.3929T>C (p.Leu1310Pro) c.1585-9347A>G (n.1585-9347A>G) | |
| 21 | g.45512316T>G | CA410502353 | COL18A1,SLC19A1 | c.4478T>G (p.Leu1493Arg) c.3938T>G (p.Leu1313Arg) c.1982T>G (p.Leu661Arg) c.5183T>G (p.Leu1728Arg) c.497+13501A>C n.2264T>G c.1293+13501A>C (n.1293+13501A>C) c.4469T>G (p.Leu1490Arg) c.5174T>G (p.Leu1725Arg) c.3929T>G (p.Leu1310Arg) c.1585-9347A>C (n.1585-9347A>C) | |
| 21 | g.45512317C>A | CA513168691 | COL18A1,SLC19A1 | c.4479C>A (p.Leu1493=) c.3939C>A (p.Leu1313=) c.1983C>A (p.Leu661=) c.5184C>A (p.Leu1728=) c.497+13500G>T n.2265C>A c.1293+13500G>T (n.1293+13500G>T) c.4470C>A (p.Leu1490=) c.5175C>A (p.Leu1725=) c.3930C>A (p.Leu1310=) c.1585-9348G>T (n.1585-9348G>T) | dbSNP |
| 21 | g.45512317C>G | CA513168692 | COL18A1,SLC19A1 | c.4479C>G (p.Leu1493=) c.3939C>G (p.Leu1313=) c.1983C>G (p.Leu661=) c.5184C>G (p.Leu1728=) c.497+13500G>C n.2265C>G c.1293+13500G>C (n.1293+13500G>C) c.4470C>G (p.Leu1490=) c.5175C>G (p.Leu1725=) c.3930C>G (p.Leu1310=) c.1585-9348G>C (n.1585-9348G>C) | |
| 21 | g.45512317C>T | CA513168693 | COL18A1,SLC19A1 | c.4479C>T (p.Leu1493=) c.3939C>T (p.Leu1313=) c.1983C>T (p.Leu661=) c.5184C>T (p.Leu1728=) c.497+13500G>A n.2265C>T c.1293+13500G>A (n.1293+13500G>A) c.4470C>T (p.Leu1490=) c.5175C>T (p.Leu1725=) c.3930C>T (p.Leu1310=) c.1585-9348G>A (n.1585-9348G>A) | gnomAD v4 |
| 21 | g.45512318C>A | CA410502354 | COL18A1,SLC19A1 | c.4480C>A (p.Leu1494Met) c.3940C>A (p.Leu1314Met) c.1984C>A (p.Leu662Met) c.5185C>A (p.Leu1729Met) c.497+13499G>T n.2266C>A c.1293+13499G>T (n.1293+13499G>T) c.4471C>A (p.Leu1491Met) c.5176C>A (p.Leu1726Met) c.3931C>A (p.Leu1311Met) c.1585-9349G>T (n.1585-9349G>T) | |
| 21 | g.45512318C= | CA2392196620 | COL18A1,SLC19A1 | c.4480C= (p.Leu1494=) c.3940C= (p.Leu1314=) c.1984C= (p.Leu662=) c.5185C= (p.Leu1729=) c.497+13499G= n.2266C= c.1293+13499G= (n.1293+13499G=) c.4471C= (p.Leu1491=) c.5176C= (p.Leu1726=) c.3931C= (p.Leu1311=) c.1585-9349G= (n.1585-9349G=) | |
| 21 | g.45512318C>G | CA410502355 | COL18A1,SLC19A1 | c.4480C>G (p.Leu1494Val) c.3940C>G (p.Leu1314Val) c.1984C>G (p.Leu662Val) c.5185C>G (p.Leu1729Val) c.497+13499G>C n.2266C>G c.1293+13499G>C (n.1293+13499G>C) c.4471C>G (p.Leu1491Val) c.5176C>G (p.Leu1726Val) c.3931C>G (p.Leu1311Val) c.1585-9349G>C (n.1585-9349G>C) | |
| 21 | g.45512318C>T | CA10068141 | COL18A1,SLC19A1 | c.4480C>T (p.Leu1494=) c.3940C>T (p.Leu1314=) c.1984C>T (p.Leu662=) c.5185C>T (p.Leu1729=) c.497+13499G>A n.2266C>T c.1293+13499G>A (n.1293+13499G>A) c.4471C>T (p.Leu1491=) c.5176C>T (p.Leu1726=) c.3931C>T (p.Leu1311=) c.1585-9349G>A (n.1585-9349G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45512319T>A | CA410502356 | COL18A1,SLC19A1 | c.4481T>A (p.Leu1494Gln) c.3941T>A (p.Leu1314Gln) c.1985T>A (p.Leu662Gln) c.5186T>A (p.Leu1729Gln) c.497+13498A>T n.2267T>A c.1293+13498A>T (n.1293+13498A>T) c.4472T>A (p.Leu1491Gln) c.5177T>A (p.Leu1726Gln) c.3932T>A (p.Leu1311Gln) c.1585-9350A>T (n.1585-9350A>T) | |
| 21 | g.45512319T>C | CA410502357 | COL18A1,SLC19A1 | c.4481T>C (p.Leu1494Pro) c.3941T>C (p.Leu1314Pro) c.1985T>C (p.Leu662Pro) c.5186T>C (p.Leu1729Pro) c.497+13498A>G n.2267T>C c.1293+13498A>G (n.1293+13498A>G) c.4472T>C (p.Leu1491Pro) c.5177T>C (p.Leu1726Pro) c.3932T>C (p.Leu1311Pro) c.1585-9350A>G (n.1585-9350A>G) | gnomAD v4 |
| 21 | g.45512319T>G | CA410502358 | COL18A1,SLC19A1 | c.4481T>G (p.Leu1494Arg) c.3941T>G (p.Leu1314Arg) c.1985T>G (p.Leu662Arg) c.5186T>G (p.Leu1729Arg) c.497+13498A>C n.2267T>G c.1293+13498A>C (n.1293+13498A>C) c.4472T>G (p.Leu1491Arg) c.5177T>G (p.Leu1726Arg) c.3932T>G (p.Leu1311Arg) c.1585-9350A>C (n.1585-9350A>C) | |
| 21 | g.45512319dup | CA2573054948 | COL18A1,SLC19A1 | c.4481dup (p.Gln1496AlafsTer16) c.3941dup (p.Gln1316AlafsTer16) c.1985dup (p.Gln664AlafsTer16) c.5186dup (p.Gln1731AlafsTer16) c.497+13498dup n.2267dup c.1293+13498dup (n.1293+13498dup) c.4472dup (p.Gln1493AlafsTer16) c.5177dup (p.Gln1728AlafsTer16) c.3932dup (p.Gln1313AlafsTer16) c.1585-9350dup (n.1585-9350dup) | dbSNP |
| 21 | g.45512320G>A | CA10068142 | COL18A1,SLC19A1 | c.4482G>A (p.Leu1494=) c.3942G>A (p.Leu1314=) c.1986G>A (p.Leu662=) c.5187G>A (p.Leu1729=) c.497+13497C>T n.2268G>A c.1293+13497C>T (n.1293+13497C>T) c.4473G>A (p.Leu1491=) c.5178G>A (p.Leu1726=) c.3933G>A (p.Leu1311=) c.1585-9351C>T (n.1585-9351C>T) | ClinVar dbSNP ExAC gnomAD v2 |
| 21 | g.45512320G>C | CA513168694 | COL18A1,SLC19A1 | c.4482G>C (p.Leu1494=) c.3942G>C (p.Leu1314=) c.1986G>C (p.Leu662=) c.5187G>C (p.Leu1729=) c.497+13497C>G n.2268G>C c.1293+13497C>G (n.1293+13497C>G) c.4473G>C (p.Leu1491=) c.5178G>C (p.Leu1726=) c.3933G>C (p.Leu1311=) c.1585-9351C>G (n.1585-9351C>G) | |
| 21 | g.45512320G= | CA2392196621 | COL18A1,SLC19A1 | c.4482G= (p.Leu1494=) c.3942G= (p.Leu1314=) c.1986G= (p.Leu662=) c.5187G= (p.Leu1729=) c.497+13497C= n.2268G= c.1293+13497C= (n.1293+13497C=) c.4473G= (p.Leu1491=) c.5178G= (p.Leu1726=) c.3933G= (p.Leu1311=) c.1585-9351C= (n.1585-9351C=) | |
| 21 | g.45512320G>T | CA513168695 | COL18A1,SLC19A1 | c.4482G>T (p.Leu1494=) c.3942G>T (p.Leu1314=) c.1986G>T (p.Leu662=) c.5187G>T (p.Leu1729=) c.497+13497C>A n.2268G>T c.1293+13497C>A (n.1293+13497C>A) c.4473G>T (p.Leu1491=) c.5178G>T (p.Leu1726=) c.3933G>T (p.Leu1311=) c.1585-9351C>A (n.1585-9351C>A) | gnomAD v4 |
| 21 | g.45512321G>A | CA410502359 | COL18A1,SLC19A1 | c.4483G>A (p.Gly1495Arg) c.3943G>A (p.Gly1315Arg) c.1987G>A (p.Gly663Arg) c.5188G>A (p.Gly1730Arg) c.497+13496C>T n.2269G>A c.1293+13496C>T (n.1293+13496C>T) c.4474G>A (p.Gly1492Arg) c.5179G>A (p.Gly1727Arg) c.3934G>A (p.Gly1312Arg) c.1585-9352C>T (n.1585-9352C>T) | |
| 21 | g.45512321G>C | CA410502360 | COL18A1,SLC19A1 | c.4483G>C (p.Gly1495Arg) c.3943G>C (p.Gly1315Arg) c.1987G>C (p.Gly663Arg) c.5188G>C (p.Gly1730Arg) c.497+13496C>G n.2269G>C c.1293+13496C>G (n.1293+13496C>G) c.4474G>C (p.Gly1492Arg) c.5179G>C (p.Gly1727Arg) c.3934G>C (p.Gly1312Arg) c.1585-9352C>G (n.1585-9352C>G) | |
| 21 | g.45512321G>T | CA410502361 | COL18A1,SLC19A1 | c.4483G>T (p.Gly1495Trp) c.3943G>T (p.Gly1315Trp) c.1987G>T (p.Gly663Trp) c.5188G>T (p.Gly1730Trp) c.497+13496C>A n.2269G>T c.1293+13496C>A (n.1293+13496C>A) c.4474G>T (p.Gly1492Trp) c.5179G>T (p.Gly1727Trp) c.3934G>T (p.Gly1312Trp) c.1585-9352C>A (n.1585-9352C>A) | |
| 21 | g.45512322G>A | CA410502362 | COL18A1,SLC19A1 | c.4484G>A (p.Gly1495Glu) c.3944G>A (p.Gly1315Glu) c.1988G>A (p.Gly663Glu) c.5189G>A (p.Gly1730Glu) c.497+13495C>T n.2270G>A c.1293+13495C>T (n.1293+13495C>T) c.4475G>A (p.Gly1492Glu) c.5180G>A (p.Gly1727Glu) c.3935G>A (p.Gly1312Glu) c.1585-9353C>T (n.1585-9353C>T) | gnomAD v4 |
| 21 | g.45512322G>C | CA410502363 | COL18A1,SLC19A1 | c.4484G>C (p.Gly1495Ala) c.3944G>C (p.Gly1315Ala) c.1988G>C (p.Gly663Ala) c.5189G>C (p.Gly1730Ala) c.497+13495C>G n.2270G>C c.1293+13495C>G (n.1293+13495C>G) c.4475G>C (p.Gly1492Ala) c.5180G>C (p.Gly1727Ala) c.3935G>C (p.Gly1312Ala) c.1585-9353C>G (n.1585-9353C>G) | |
| 21 | g.45512322G= | CA2392196622 | COL18A1,SLC19A1 | c.4484G= (p.Gly1495=) c.3944G= (p.Gly1315=) c.1988G= (p.Gly663=) c.5189G= (p.Gly1730=) c.497+13495C= n.2270G= c.1293+13495C= (n.1293+13495C=) c.4475G= (p.Gly1492=) c.5180G= (p.Gly1727=) c.3935G= (p.Gly1312=) c.1585-9353C= (n.1585-9353C=) | |
| 21 | g.45512322G>T | CA410502364 | COL18A1,SLC19A1 | c.4484G>T (p.Gly1495Val) c.3944G>T (p.Gly1315Val) c.1988G>T (p.Gly663Val) c.5189G>T (p.Gly1730Val) c.497+13495C>A n.2270G>T c.1293+13495C>A (n.1293+13495C>A) c.4475G>T (p.Gly1492Val) c.5180G>T (p.Gly1727Val) c.3935G>T (p.Gly1312Val) c.1585-9353C>A (n.1585-9353C>A) | dbSNP |
| 21 | g.45512323G>A | CA513168696 | COL18A1,SLC19A1 | c.4485G>A (p.Gly1495=) c.3945G>A (p.Gly1315=) c.1989G>A (p.Gly663=) c.5190G>A (p.Gly1730=) c.497+13494C>T n.2271G>A c.1293+13494C>T (n.1293+13494C>T) c.4476G>A (p.Gly1492=) c.5181G>A (p.Gly1727=) c.3936G>A (p.Gly1312=) c.1585-9354C>T (n.1585-9354C>T) | |
| 21 | g.45512323G>C | CA513168698 | COL18A1,SLC19A1 | c.4485G>C (p.Gly1495=) c.3945G>C (p.Gly1315=) c.1989G>C (p.Gly663=) c.5190G>C (p.Gly1730=) c.497+13494C>G n.2271G>C c.1293+13494C>G (n.1293+13494C>G) c.4476G>C (p.Gly1492=) c.5181G>C (p.Gly1727=) c.3936G>C (p.Gly1312=) c.1585-9354C>G (n.1585-9354C>G) | |
| 21 | g.45512323G>T | CA513168697 | COL18A1,SLC19A1 | c.4485G>T (p.Gly1495=) c.3945G>T (p.Gly1315=) c.1989G>T (p.Gly663=) c.5190G>T (p.Gly1730=) c.497+13494C>A n.2271G>T c.1293+13494C>A (n.1293+13494C>A) c.4476G>T (p.Gly1492=) c.5181G>T (p.Gly1727=) c.3936G>T (p.Gly1312=) c.1585-9354C>A (n.1585-9354C>A) | |
| 21 | g.45512324C>A | CA410502367 | COL18A1,SLC19A1 | c.4486C>A (p.Gln1496Lys) c.3946C>A (p.Gln1316Lys) c.1990C>A (p.Gln664Lys) c.5191C>A (p.Gln1731Lys) c.497+13493G>T n.2272C>A c.1293+13493G>T (n.1293+13493G>T) c.4477C>A (p.Gln1493Lys) c.5182C>A (p.Gln1728Lys) c.3937C>A (p.Gln1313Lys) c.1585-9355G>T (n.1585-9355G>T) | |
| 21 | g.45512324C>G | CA410502366 | COL18A1,SLC19A1 | c.4486C>G (p.Gln1496Glu) c.3946C>G (p.Gln1316Glu) c.1990C>G (p.Gln664Glu) c.5191C>G (p.Gln1731Glu) c.497+13493G>C n.2272C>G c.1293+13493G>C (n.1293+13493G>C) c.4477C>G (p.Gln1493Glu) c.5182C>G (p.Gln1728Glu) c.3937C>G (p.Gln1313Glu) c.1585-9355G>C (n.1585-9355G>C) | |
| 21 | g.45512324C>T | CA410502365 | COL18A1,SLC19A1 | c.4486C>T (p.Gln1496Ter) c.3946C>T (p.Gln1316Ter) c.1990C>T (p.Gln664Ter) c.5191C>T (p.Gln1731Ter) c.497+13493G>A n.2272C>T c.1293+13493G>A (n.1293+13493G>A) c.4477C>T (p.Gln1493Ter) c.5182C>T (p.Gln1728Ter) c.3937C>T (p.Gln1313Ter) c.1585-9355G>A (n.1585-9355G>A) | |
| 21 | g.45512325A= | CA2392196623 | COL18A1,SLC19A1 | c.4487A= (p.Gln1496=) c.3947A= (p.Gln1316=) c.1991A= (p.Gln664=) c.5192A= (p.Gln1731=) c.497+13492T= n.2273A= c.1293+13492T= (n.1293+13492T=) c.4478A= (p.Gln1493=) c.5183A= (p.Gln1728=) c.3938A= (p.Gln1313=) c.1585-9356T= (n.1585-9356T=) | |
| 21 | g.45512325A>C | CA410502370 | COL18A1,SLC19A1 | c.4487A>C (p.Gln1496Pro) c.3947A>C (p.Gln1316Pro) c.1991A>C (p.Gln664Pro) c.5192A>C (p.Gln1731Pro) c.497+13492T>G n.2273A>C c.1293+13492T>G (n.1293+13492T>G) c.4478A>C (p.Gln1493Pro) c.5183A>C (p.Gln1728Pro) c.3938A>C (p.Gln1313Pro) c.1585-9356T>G (n.1585-9356T>G) | |
| 21 | g.45512325A>G | CA410502368 | COL18A1,SLC19A1 | c.4487A>G (p.Gln1496Arg) c.3947A>G (p.Gln1316Arg) c.1991A>G (p.Gln664Arg) c.5192A>G (p.Gln1731Arg) c.497+13492T>C n.2273A>G c.1293+13492T>C (n.1293+13492T>C) c.4478A>G (p.Gln1493Arg) c.5183A>G (p.Gln1728Arg) c.3938A>G (p.Gln1313Arg) c.1585-9356T>C (n.1585-9356T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45512325A>T | CA410502369 | COL18A1,SLC19A1 | c.4487A>T (p.Gln1496Leu) c.3947A>T (p.Gln1316Leu) c.1991A>T (p.Gln664Leu) c.5192A>T (p.Gln1731Leu) c.497+13492T>A n.2273A>T c.1293+13492T>A (n.1293+13492T>A) c.4478A>T (p.Gln1493Leu) c.5183A>T (p.Gln1728Leu) c.3938A>T (p.Gln1313Leu) c.1585-9356T>A (n.1585-9356T>A) | |
| 21 | g.45512326G>A | CA513168699 | COL18A1,SLC19A1 | c.4488G>A (p.Gln1496=) c.3948G>A (p.Gln1316=) c.1992G>A (p.Gln664=) c.5193G>A (p.Gln1731=) c.497+13491C>T n.2274G>A c.1293+13491C>T (n.1293+13491C>T) c.4479G>A (p.Gln1493=) c.5184G>A (p.Gln1728=) c.3939G>A (p.Gln1313=) c.1585-9357C>T (n.1585-9357C>T) | |
| 21 | g.45512326G>C | CA410502371 | COL18A1,SLC19A1 | c.4488G>C (p.Gln1496His) c.3948G>C (p.Gln1316His) c.1992G>C (p.Gln664His) c.5193G>C (p.Gln1731His) c.497+13491C>G n.2274G>C c.1293+13491C>G (n.1293+13491C>G) c.4479G>C (p.Gln1493His) c.5184G>C (p.Gln1728His) c.3939G>C (p.Gln1313His) c.1585-9357C>G (n.1585-9357C>G) | gnomAD v4 COSMIC |
| 21 | g.45512326G>T | CA410502372 | COL18A1,SLC19A1 | c.4488G>T (p.Gln1496His) c.3948G>T (p.Gln1316His) c.1992G>T (p.Gln664His) c.5193G>T (p.Gln1731His) c.497+13491C>A n.2274G>T c.1293+13491C>A (n.1293+13491C>A) c.4479G>T (p.Gln1493His) c.5184G>T (p.Gln1728His) c.3939G>T (p.Gln1313His) c.1585-9357C>A (n.1585-9357C>A) | |
| 21 | g.45512328_45512416del | CA2573157736 | COL18A1,SLC19A1 | c.4490_*18del (n.[c.4490_*18del;Ser1497MetfsTer?]) c.3950_*18del (n.[c.3950_*18del;Ser1317MetfsTer?]) c.1994_2082del (n.[c.1994_2082del;Ser665MetfsTer?]) c.5195_5283del (n.[c.5195_5283del;Ser1732MetfsTer?]) c.497+13403_497+13491del n.2276_2364del c.1293+13403_1293+13491del (n.1293+13403_1293+13491del) c.4481_*18del (n.[c.4481_*18del;Ser1494MetfsTer?]) c.5186_*18del (n.[c.5186_*18del;Ser1729MetfsTer?]) c.3941_*18del (n.[c.3941_*18del;Ser1314MetfsTer?]) c.1585-9445_1585-9357del (n.1585-9445_1585-9357del) | ClinVar dbSNP |
| 21 | g.45512327A= | CA2392196624 | COL18A1,SLC19A1 | c.4489A= (p.Ser1497=) c.3949A= (p.Ser1317=) c.1993A= (p.Ser665=) c.5194A= (p.Ser1732=) c.497+13490T= n.2275A= c.1293+13490T= (n.1293+13490T=) c.4480A= (p.Ser1494=) c.5185A= (p.Ser1729=) c.3940A= (p.Ser1314=) c.1585-9358T= (n.1585-9358T=) | |
| 21 | g.45512327A>C | CA410502373 | COL18A1,SLC19A1 | c.4489A>C (p.Ser1497Arg) c.3949A>C (p.Ser1317Arg) c.1993A>C (p.Ser665Arg) c.5194A>C (p.Ser1732Arg) c.497+13490T>G n.2275A>C c.1293+13490T>G (n.1293+13490T>G) c.4480A>C (p.Ser1494Arg) c.5185A>C (p.Ser1729Arg) c.3940A>C (p.Ser1314Arg) c.1585-9358T>G (n.1585-9358T>G) | dbSNP gnomAD v4 |
| 21 | g.45512327A>G | CA410502374 | COL18A1,SLC19A1 | c.4489A>G (p.Ser1497Gly) c.3949A>G (p.Ser1317Gly) c.1993A>G (p.Ser665Gly) c.5194A>G (p.Ser1732Gly) c.497+13490T>C n.2275A>G c.1293+13490T>C (n.1293+13490T>C) c.4480A>G (p.Ser1494Gly) c.5185A>G (p.Ser1729Gly) c.3940A>G (p.Ser1314Gly) c.1585-9358T>C (n.1585-9358T>C) | dbSNP gnomAD v2 gnomAD v4 |