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.45511205A>C | CA410502041 | COL18A1,SLC19A1 | c.4328A>C (p.Asp1443Ala) c.3788A>C (p.Asp1263Ala) c.1832A>C (p.Asp611Ala) c.5033A>C (p.Asp1678Ala) c.498-12593T>G c.742A>C n.2114A>C c.1294-12593T>G (n.1294-12593T>G) c.4319A>C (p.Asp1440Ala) c.5024A>C (p.Asp1675Ala) c.3779A>C (p.Asp1260Ala) c.1585-8236T>G (n.1585-8236T>G) | |
| 21 | g.45511205A>G | CA410502040 | COL18A1,SLC19A1 | c.4328A>G (p.Asp1443Gly) c.3788A>G (p.Asp1263Gly) c.1832A>G (p.Asp611Gly) c.5033A>G (p.Asp1678Gly) c.498-12593T>C c.742A>G n.2114A>G c.1294-12593T>C (n.1294-12593T>C) c.4319A>G (p.Asp1440Gly) c.5024A>G (p.Asp1675Gly) c.3779A>G (p.Asp1260Gly) c.1585-8236T>C (n.1585-8236T>C) | gnomAD v4 |
| 21 | g.45511205A>T | CA410502039 | COL18A1,SLC19A1 | c.4328A>T (p.Asp1443Val) c.3788A>T (p.Asp1263Val) c.1832A>T (p.Asp611Val) c.5033A>T (p.Asp1678Val) c.498-12593T>A c.742A>T n.2114A>T c.1294-12593T>A (n.1294-12593T>A) c.4319A>T (p.Asp1440Val) c.5024A>T (p.Asp1675Val) c.3779A>T (p.Asp1260Val) c.1585-8236T>A (n.1585-8236T>A) | |
| 21 | g.45511206C>A | CA410502042 | COL18A1,SLC19A1 | c.4329C>A (p.Asp1443Glu) c.3789C>A (p.Asp1263Glu) c.1833C>A (p.Asp611Glu) c.5034C>A (p.Asp1678Glu) c.498-12594G>T c.743C>A n.2115C>A c.1294-12594G>T (n.1294-12594G>T) c.4320C>A (p.Asp1440Glu) c.5025C>A (p.Asp1675Glu) c.3780C>A (p.Asp1260Glu) c.1585-8237G>T (n.1585-8237G>T) | gnomAD v4 |
| 21 | g.45511206C= | CA2392195911 | COL18A1,SLC19A1 | c.4329C= (p.Asp1443=) c.3789C= (p.Asp1263=) c.1833C= (p.Asp611=) c.5034C= (p.Asp1678=) c.498-12594G= c.743C= n.2115C= c.1294-12594G= (n.1294-12594G=) c.4320C= (p.Asp1440=) c.5025C= (p.Asp1675=) c.3780C= (p.Asp1260=) c.1585-8237G= (n.1585-8237G=) | |
| 21 | g.45511206C>G | CA410502043 | COL18A1,SLC19A1 | c.4329C>G (p.Asp1443Glu) c.3789C>G (p.Asp1263Glu) c.1833C>G (p.Asp611Glu) c.5034C>G (p.Asp1678Glu) c.498-12594G>C c.743C>G n.2115C>G c.1294-12594G>C (n.1294-12594G>C) c.4320C>G (p.Asp1440Glu) c.5025C>G (p.Asp1675Glu) c.3780C>G (p.Asp1260Glu) c.1585-8237G>C (n.1585-8237G>C) | |
| 21 | g.45511206C>T | CA10068072 | COL18A1,SLC19A1 | c.4329C>T (p.Asp1443=) c.3789C>T (p.Asp1263=) c.1833C>T (p.Asp611=) c.5034C>T (p.Asp1678=) c.498-12594G>A c.743C>T n.2115C>T c.1294-12594G>A (n.1294-12594G>A) c.4320C>T (p.Asp1440=) c.5025C>T (p.Asp1675=) c.3780C>T (p.Asp1260=) c.1585-8237G>A (n.1585-8237G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 21 | g.45511207G>A | CA10068073 | COL18A1,SLC19A1 | c.4330G>A (p.Val1444Ile) c.3790G>A (p.Val1264Ile) c.1834G>A (p.Val612Ile) c.5035G>A (p.Val1679Ile) c.498-12595C>T c.744G>A n.2116G>A c.1294-12595C>T (n.1294-12595C>T) c.4321G>A (p.Val1441Ile) c.5026G>A (p.Val1676Ile) c.3781G>A (p.Val1261Ile) c.1585-8238C>T (n.1585-8238C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45511207G>C | CA410502044 | COL18A1,SLC19A1 | c.4330G>C (p.Val1444Leu) c.3790G>C (p.Val1264Leu) c.1834G>C (p.Val612Leu) c.5035G>C (p.Val1679Leu) c.498-12595C>G c.744G>C n.2116G>C c.1294-12595C>G (n.1294-12595C>G) c.4321G>C (p.Val1441Leu) c.5026G>C (p.Val1676Leu) c.3781G>C (p.Val1261Leu) c.1585-8238C>G (n.1585-8238C>G) | |
| 21 | g.45511207G= | CA2392195912 | COL18A1,SLC19A1 | c.4330G= (p.Val1444=) c.3790G= (p.Val1264=) c.1834G= (p.Val612=) c.5035G= (p.Val1679=) c.498-12595C= c.744G= n.2116G= c.1294-12595C= (n.1294-12595C=) c.4321G= (p.Val1441=) c.5026G= (p.Val1676=) c.3781G= (p.Val1261=) c.1585-8238C= (n.1585-8238C=) | |
| 21 | g.45511207G>T | CA410502045 | COL18A1,SLC19A1 | c.4330G>T (p.Val1444Phe) c.3790G>T (p.Val1264Phe) c.1834G>T (p.Val612Phe) c.5035G>T (p.Val1679Phe) c.498-12595C>A c.744G>T n.2116G>T c.1294-12595C>A (n.1294-12595C>A) c.4321G>T (p.Val1441Phe) c.5026G>T (p.Val1676Phe) c.3781G>T (p.Val1261Phe) c.1585-8238C>A (n.1585-8238C>A) | gnomAD v4 |
| 21 | g.45511208T>A | CA410502046 | COL18A1,SLC19A1 | c.4331T>A (p.Val1444Asp) c.3791T>A (p.Val1264Asp) c.1835T>A (p.Val612Asp) c.5036T>A (p.Val1679Asp) c.498-12596A>T c.745T>A n.2117T>A c.1294-12596A>T (n.1294-12596A>T) c.4322T>A (p.Val1441Asp) c.5027T>A (p.Val1676Asp) c.3782T>A (p.Val1261Asp) c.1585-8239A>T (n.1585-8239A>T) | |
| 21 | g.45511208T>C | CA410502047 | COL18A1,SLC19A1 | c.4331T>C (p.Val1444Ala) c.3791T>C (p.Val1264Ala) c.1835T>C (p.Val612Ala) c.5036T>C (p.Val1679Ala) c.498-12596A>G c.745T>C n.2117T>C c.1294-12596A>G (n.1294-12596A>G) c.4322T>C (p.Val1441Ala) c.5027T>C (p.Val1676Ala) c.3782T>C (p.Val1261Ala) c.1585-8239A>G (n.1585-8239A>G) | |
| 21 | g.45511208T>G | CA410502048 | COL18A1,SLC19A1 | c.4331T>G (p.Val1444Gly) c.3791T>G (p.Val1264Gly) c.1835T>G (p.Val612Gly) c.5036T>G (p.Val1679Gly) c.498-12596A>C c.745T>G n.2117T>G c.1294-12596A>C (n.1294-12596A>C) c.4322T>G (p.Val1441Gly) c.5027T>G (p.Val1676Gly) c.3782T>G (p.Val1261Gly) c.1585-8239A>C (n.1585-8239A>C) | |
| 21 | g.45511209C>A | CA512687720 | COL18A1,SLC19A1 | c.4332C>A (p.Val1444=) c.3792C>A (p.Val1264=) c.1836C>A (p.Val612=) c.5037C>A (p.Val1679=) c.498-12597G>T c.746C>A n.2118C>A c.1294-12597G>T (n.1294-12597G>T) c.4323C>A (p.Val1441=) c.5028C>A (p.Val1676=) c.3783C>A (p.Val1261=) c.1585-8240G>T (n.1585-8240G>T) | gnomAD v4 |
| 21 | g.45511209C>G | CA512687719 | COL18A1,SLC19A1 | c.4332C>G (p.Val1444=) c.3792C>G (p.Val1264=) c.1836C>G (p.Val612=) c.5037C>G (p.Val1679=) c.498-12597G>C c.746C>G n.2118C>G c.1294-12597G>C (n.1294-12597G>C) c.4323C>G (p.Val1441=) c.5028C>G (p.Val1676=) c.3783C>G (p.Val1261=) c.1585-8240G>C (n.1585-8240G>C) | |
| 21 | g.45511209C>T | CA512687718 | COL18A1,SLC19A1 | c.4332C>T (p.Val1444=) c.3792C>T (p.Val1264=) c.1836C>T (p.Val612=) c.5037C>T (p.Val1679=) c.498-12597G>A c.746C>T n.2118C>T c.1294-12597G>A (n.1294-12597G>A) c.4323C>T (p.Val1441=) c.5028C>T (p.Val1676=) c.3783C>T (p.Val1261=) c.1585-8240G>A (n.1585-8240G>A) | ClinVar gnomAD v4 |
| 21 | g.45511210C>A | CA410502049 | COL18A1,SLC19A1 | c.4333C>A (p.Leu1445Met) c.3793C>A (p.Leu1265Met) c.1837C>A (p.Leu613Met) c.5038C>A (p.Leu1680Met) c.498-12598G>T c.747C>A n.2119C>A c.1294-12598G>T (n.1294-12598G>T) c.4324C>A (p.Leu1442Met) c.5029C>A (p.Leu1677Met) c.3784C>A (p.Leu1262Met) c.1585-8241G>T (n.1585-8241G>T) | gnomAD v4 |
| 21 | g.45511210C= | CA2392195913 | COL18A1,SLC19A1 | c.4333C= (p.Leu1445=) c.3793C= (p.Leu1265=) c.1837C= (p.Leu613=) c.5038C= (p.Leu1680=) c.498-12598G= c.747C= n.2119C= c.1294-12598G= (n.1294-12598G=) c.4324C= (p.Leu1442=) c.5029C= (p.Leu1677=) c.3784C= (p.Leu1262=) c.1585-8241G= (n.1585-8241G=) | |
| 21 | g.45511210C>G | CA410502050 | COL18A1,SLC19A1 | c.4333C>G (p.Leu1445Val) c.3793C>G (p.Leu1265Val) c.1837C>G (p.Leu613Val) c.5038C>G (p.Leu1680Val) c.498-12598G>C c.747C>G n.2119C>G c.1294-12598G>C (n.1294-12598G>C) c.4324C>G (p.Leu1442Val) c.5029C>G (p.Leu1677Val) c.3784C>G (p.Leu1262Val) c.1585-8241G>C (n.1585-8241G>C) | |
| 21 | g.45511210C>T | CA512687721 | COL18A1,SLC19A1 | c.4333C>T (p.Leu1445=) c.3793C>T (p.Leu1265=) c.1837C>T (p.Leu613=) c.5038C>T (p.Leu1680=) c.498-12598G>A c.747C>T n.2119C>T c.1294-12598G>A (n.1294-12598G>A) c.4324C>T (p.Leu1442=) c.5029C>T (p.Leu1677=) c.3784C>T (p.Leu1262=) c.1585-8241G>A (n.1585-8241G>A) | dbSNP gnomAD v4 |
| 21 | g.45511211T>A | CA410502051 | COL18A1,SLC19A1 | c.4334T>A (p.Leu1445Gln) c.3794T>A (p.Leu1265Gln) c.1838T>A (p.Leu613Gln) c.5039T>A (p.Leu1680Gln) c.498-12599A>T c.748T>A n.2120T>A c.1294-12599A>T (n.1294-12599A>T) c.4325T>A (p.Leu1442Gln) c.5030T>A (p.Leu1677Gln) c.3785T>A (p.Leu1262Gln) c.1585-8242A>T (n.1585-8242A>T) | |
| 21 | g.45511211T>C | CA410502052 | COL18A1,SLC19A1 | c.4334T>C (p.Leu1445Pro) c.3794T>C (p.Leu1265Pro) c.1838T>C (p.Leu613Pro) c.5039T>C (p.Leu1680Pro) c.498-12599A>G c.748T>C n.2120T>C c.1294-12599A>G (n.1294-12599A>G) c.4325T>C (p.Leu1442Pro) c.5030T>C (p.Leu1677Pro) c.3785T>C (p.Leu1262Pro) c.1585-8242A>G (n.1585-8242A>G) | gnomAD v4 |
| 21 | g.45511211T>G | CA410502053 | COL18A1,SLC19A1 | c.4334T>G (p.Leu1445Arg) c.3794T>G (p.Leu1265Arg) c.1838T>G (p.Leu613Arg) c.5039T>G (p.Leu1680Arg) c.498-12599A>C c.748T>G n.2120T>G c.1294-12599A>C (n.1294-12599A>C) c.4325T>G (p.Leu1442Arg) c.5030T>G (p.Leu1677Arg) c.3785T>G (p.Leu1262Arg) c.1585-8242A>C (n.1585-8242A>C) | gnomAD v4 |
| 21 | g.45511212G>A | CA512687722 | COL18A1,SLC19A1 | c.4335G>A (p.Leu1445=) c.3795G>A (p.Leu1265=) c.1839G>A (p.Leu613=) c.5040G>A (p.Leu1680=) c.498-12600C>T c.749G>A n.2121G>A c.1294-12600C>T (n.1294-12600C>T) c.4326G>A (p.Leu1442=) c.5031G>A (p.Leu1677=) c.3786G>A (p.Leu1262=) c.1585-8243C>T (n.1585-8243C>T) | |
| 21 | g.45511212G>C | CA512687723 | COL18A1,SLC19A1 | c.4335G>C (p.Leu1445=) c.3795G>C (p.Leu1265=) c.1839G>C (p.Leu613=) c.5040G>C (p.Leu1680=) c.498-12600C>G c.749G>C n.2121G>C c.1294-12600C>G (n.1294-12600C>G) c.4326G>C (p.Leu1442=) c.5031G>C (p.Leu1677=) c.3786G>C (p.Leu1262=) c.1585-8243C>G (n.1585-8243C>G) | |
| 21 | g.45511212G>T | CA512687724 | COL18A1,SLC19A1 | c.4335G>T (p.Leu1445=) c.3795G>T (p.Leu1265=) c.1839G>T (p.Leu613=) c.5040G>T (p.Leu1680=) c.498-12600C>A c.749G>T n.2121G>T c.1294-12600C>A (n.1294-12600C>A) c.4326G>T (p.Leu1442=) c.5031G>T (p.Leu1677=) c.3786G>T (p.Leu1262=) c.1585-8243C>A (n.1585-8243C>A) | gnomAD v4 |
| 21 | g.45511213del | CA2654921917 | COL18A1,SLC19A1 | c.4336del (p.Arg1446GlyfsTer21) c.3796del (p.Arg1266GlyfsTer21) c.1840del (p.Arg614GlyfsTer21) c.5041del (p.Arg1681GlyfsTer21) c.498-12601del c.750del n.2122del c.1294-12601del (n.1294-12601del) c.4327del (p.Arg1443GlyfsTer21) c.5032del (p.Arg1678GlyfsTer21) c.3787del (p.Arg1263GlyfsTer21) c.1585-8244del (n.1585-8244del) | gnomAD v4 |
| 21 | g.45511213A>C | CA512687725 | COL18A1,SLC19A1 | c.4336A>C (p.Arg1446=) c.3796A>C (p.Arg1266=) c.1840A>C (p.Arg614=) c.5041A>C (p.Arg1681=) c.498-12601T>G c.750A>C n.2122A>C c.1294-12601T>G (n.1294-12601T>G) c.4327A>C (p.Arg1443=) c.5032A>C (p.Arg1678=) c.3787A>C (p.Arg1263=) c.1585-8244T>G (n.1585-8244T>G) | |
| 21 | g.45511213A>G | CA410502054 | COL18A1,SLC19A1 | c.4336A>G (p.Arg1446Gly) c.3796A>G (p.Arg1266Gly) c.1840A>G (p.Arg614Gly) c.5041A>G (p.Arg1681Gly) c.498-12601T>C c.750A>G n.2122A>G c.1294-12601T>C (n.1294-12601T>C) c.4327A>G (p.Arg1443Gly) c.5032A>G (p.Arg1678Gly) c.3787A>G (p.Arg1263Gly) c.1585-8244T>C (n.1585-8244T>C) | ClinVar dbSNP gnomAD v4 |
| 21 | g.45511213A>T | CA410502055 | COL18A1,SLC19A1 | c.4336A>T (p.Arg1446Trp) c.3796A>T (p.Arg1266Trp) c.1840A>T (p.Arg614Trp) c.5041A>T (p.Arg1681Trp) c.498-12601T>A c.750A>T n.2122A>T c.1294-12601T>A (n.1294-12601T>A) c.4327A>T (p.Arg1443Trp) c.5032A>T (p.Arg1678Trp) c.3787A>T (p.Arg1263Trp) c.1585-8244T>A (n.1585-8244T>A) | |
| 21 | g.45511214G>A | CA410502056 | COL18A1,SLC19A1 | c.4337G>A (p.Arg1446Lys) c.3797G>A (p.Arg1266Lys) c.1841G>A (p.Arg614Lys) c.5042G>A (p.Arg1681Lys) c.498-12602C>T c.751G>A n.2123G>A c.1294-12602C>T (n.1294-12602C>T) c.4328G>A (p.Arg1443Lys) c.5033G>A (p.Arg1678Lys) c.3788G>A (p.Arg1263Lys) c.1585-8245C>T (n.1585-8245C>T) | |
| 21 | g.45511214G>C | CA410502058 | COL18A1,SLC19A1 | c.4337G>C (p.Arg1446Thr) c.3797G>C (p.Arg1266Thr) c.1841G>C (p.Arg614Thr) c.5042G>C (p.Arg1681Thr) c.498-12602C>G c.751G>C n.2123G>C c.1294-12602C>G (n.1294-12602C>G) c.4328G>C (p.Arg1443Thr) c.5033G>C (p.Arg1678Thr) c.3788G>C (p.Arg1263Thr) c.1585-8245C>G (n.1585-8245C>G) | |
| 21 | g.45511214G>T | CA410502057 | COL18A1,SLC19A1 | c.4337G>T (p.Arg1446Met) c.3797G>T (p.Arg1266Met) c.1841G>T (p.Arg614Met) c.5042G>T (p.Arg1681Met) c.498-12602C>A c.751G>T n.2123G>T c.1294-12602C>A (n.1294-12602C>A) c.4328G>T (p.Arg1443Met) c.5033G>T (p.Arg1678Met) c.3788G>T (p.Arg1263Met) c.1585-8245C>A (n.1585-8245C>A) | gnomAD v4 |
| 21 | g.45511215G>A | CA512687726 | COL18A1,SLC19A1 | c.4338G>A (p.Arg1446=) c.3798G>A (p.Arg1266=) c.1842G>A (p.Arg614=) c.5043G>A (p.Arg1681=) c.498-12603C>T c.752G>A n.2124G>A c.1294-12603C>T (n.1294-12603C>T) c.4329G>A (p.Arg1443=) c.5034G>A (p.Arg1678=) c.3789G>A (p.Arg1263=) c.1585-8246C>T (n.1585-8246C>T) | gnomAD v4 |
| 21 | g.45511215G>C | CA410502059 | COL18A1,SLC19A1 | c.4338G>C (p.Arg1446Ser) c.3798G>C (p.Arg1266Ser) c.1842G>C (p.Arg614Ser) c.5043G>C (p.Arg1681Ser) c.498-12603C>G c.752G>C n.2124G>C c.1294-12603C>G (n.1294-12603C>G) c.4329G>C (p.Arg1443Ser) c.5034G>C (p.Arg1678Ser) c.3789G>C (p.Arg1263Ser) c.1585-8246C>G (n.1585-8246C>G) | |
| 21 | g.45511215G>T | CA410502060 | COL18A1,SLC19A1 | c.4338G>T (p.Arg1446Ser) c.3798G>T (p.Arg1266Ser) c.1842G>T (p.Arg614Ser) c.5043G>T (p.Arg1681Ser) c.498-12603C>A c.752G>T n.2124G>T c.1294-12603C>A (n.1294-12603C>A) c.4329G>T (p.Arg1443Ser) c.5034G>T (p.Arg1678Ser) c.3789G>T (p.Arg1263Ser) c.1585-8246C>A (n.1585-8246C>A) | gnomAD v4 |
| 21 | g.45511216C>A | CA410502061 | COL18A1,SLC19A1 | c.4339C>A (p.His1447Asn) c.3799C>A (p.His1267Asn) c.1843C>A (p.His615Asn) c.5044C>A (p.His1682Asn) c.498-12604G>T c.753C>A n.2125C>A c.1294-12604G>T (n.1294-12604G>T) c.4330C>A (p.His1444Asn) c.5035C>A (p.His1679Asn) c.3790C>A (p.His1264Asn) c.1585-8247G>T (n.1585-8247G>T) | gnomAD v4 |
| 21 | g.45511216C>G | CA410502062 | COL18A1,SLC19A1 | c.4339C>G (p.His1447Asp) c.3799C>G (p.His1267Asp) c.1843C>G (p.His615Asp) c.5044C>G (p.His1682Asp) c.498-12604G>C c.753C>G n.2125C>G c.1294-12604G>C (n.1294-12604G>C) c.4330C>G (p.His1444Asp) c.5035C>G (p.His1679Asp) c.3790C>G (p.His1264Asp) c.1585-8247G>C (n.1585-8247G>C) | |
| 21 | g.45511216C>T | CA410502063 | COL18A1,SLC19A1 | c.4339C>T (p.His1447Tyr) c.3799C>T (p.His1267Tyr) c.1843C>T (p.His615Tyr) c.5044C>T (p.His1682Tyr) c.498-12604G>A c.753C>T n.2125C>T c.1294-12604G>A (n.1294-12604G>A) c.4330C>T (p.His1444Tyr) c.5035C>T (p.His1679Tyr) c.3790C>T (p.His1264Tyr) c.1585-8247G>A (n.1585-8247G>A) | gnomAD v4 |
| 21 | g.45511217A>C | CA410502064 | COL18A1,SLC19A1 | c.4340A>C (p.His1447Pro) c.3800A>C (p.His1267Pro) c.1844A>C (p.His615Pro) c.5045A>C (p.His1682Pro) c.498-12605T>G c.754A>C n.2126A>C c.1294-12605T>G (n.1294-12605T>G) c.4331A>C (p.His1444Pro) c.5036A>C (p.His1679Pro) c.3791A>C (p.His1264Pro) c.1585-8248T>G (n.1585-8248T>G) | |
| 21 | g.45511217A>G | CA410502065 | COL18A1,SLC19A1 | c.4340A>G (p.His1447Arg) c.3800A>G (p.His1267Arg) c.1844A>G (p.His615Arg) c.5045A>G (p.His1682Arg) c.498-12605T>C c.754A>G n.2126A>G c.1294-12605T>C (n.1294-12605T>C) c.4331A>G (p.His1444Arg) c.5036A>G (p.His1679Arg) c.3791A>G (p.His1264Arg) c.1585-8248T>C (n.1585-8248T>C) | gnomAD v4 |
| 21 | g.45511217A>T | CA410502066 | COL18A1,SLC19A1 | c.4340A>T (p.His1447Leu) c.3800A>T (p.His1267Leu) c.1844A>T (p.His615Leu) c.5045A>T (p.His1682Leu) c.498-12605T>A c.754A>T n.2126A>T c.1294-12605T>A (n.1294-12605T>A) c.4331A>T (p.His1444Leu) c.5036A>T (p.His1679Leu) c.3791A>T (p.His1264Leu) c.1585-8248T>A (n.1585-8248T>A) | |
| 21 | g.45511218C>A | CA410502067 | COL18A1,SLC19A1 | c.4341C>A (p.His1447Gln) c.3801C>A (p.His1267Gln) c.1845C>A (p.His615Gln) c.5046C>A (p.His1682Gln) c.498-12606G>T c.755C>A n.2127C>A c.1294-12606G>T (n.1294-12606G>T) c.4332C>A (p.His1444Gln) c.5037C>A (p.His1679Gln) c.3792C>A (p.His1264Gln) c.1585-8249G>T (n.1585-8249G>T) | dbSNP gnomAD v4 |
| 21 | g.45511218C= | CA2392195914 | COL18A1,SLC19A1 | c.4341C= (p.His1447=) c.3801C= (p.His1267=) c.1845C= (p.His615=) c.5046C= (p.His1682=) c.498-12606G= c.755C= n.2127C= c.1294-12606G= (n.1294-12606G=) c.4332C= (p.His1444=) c.5037C= (p.His1679=) c.3792C= (p.His1264=) c.1585-8249G= (n.1585-8249G=) | |
| 21 | g.45511218C>G | CA410502068 | COL18A1,SLC19A1 | c.4341C>G (p.His1447Gln) c.3801C>G (p.His1267Gln) c.1845C>G (p.His615Gln) c.5046C>G (p.His1682Gln) c.498-12606G>C c.755C>G n.2127C>G c.1294-12606G>C (n.1294-12606G>C) c.4332C>G (p.His1444Gln) c.5037C>G (p.His1679Gln) c.3792C>G (p.His1264Gln) c.1585-8249G>C (n.1585-8249G>C) | |
| 21 | g.45511218C>T | CA512687727 | COL18A1,SLC19A1 | c.4341C>T (p.His1447=) c.3801C>T (p.His1267=) c.1845C>T (p.His615=) c.5046C>T (p.His1682=) c.498-12606G>A c.755C>T n.2127C>T c.1294-12606G>A (n.1294-12606G>A) c.4332C>T (p.His1444=) c.5037C>T (p.His1679=) c.3792C>T (p.His1264=) c.1585-8249G>A (n.1585-8249G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45511221dup | CA2654921926 | COL18A1,SLC19A1 | c.4344dup (p.Thr1449HisfsTer24) c.3804dup (p.Thr1269HisfsTer24) c.1848dup (p.Thr617HisfsTer24) c.5049dup (p.Thr1684HisfsTer24) c.498-12606dup c.758dup n.2130dup c.1294-12606dup (n.1294-12606dup) c.4335dup (p.Thr1446HisfsTer24) c.5040dup (p.Thr1681HisfsTer24) c.3795dup (p.Thr1266HisfsTer24) c.1585-8249dup (n.1585-8249dup) | gnomAD v4 |
| 21 | g.45511221del | CA2654921929 | COL18A1,SLC19A1 | c.4344del (p.Thr1449ProfsTer18) c.3804del (p.Thr1269ProfsTer18) c.1848del (p.Thr617ProfsTer18) c.5049del (p.Thr1684ProfsTer18) c.498-12606del c.758del n.2130del c.1294-12606del (n.1294-12606del) c.4335del (p.Thr1446ProfsTer18) c.5040del (p.Thr1681ProfsTer18) c.3795del (p.Thr1266ProfsTer18) c.1585-8249del (n.1585-8249del) | gnomAD v4 |
| 21 | g.45511219_45511221del | CA2577627270 | COL18A1,SLC19A1 | c.4342_4344del (p.Pro1448del) c.3802_3804del (p.Pro1268del) c.1846_1848del (p.Pro616del) c.5047_5049del (p.Pro1683del) c.498-12608_498-12606del c.756_758del n.2128_2130del c.1294-12608_1294-12606del (n.1294-12608_1294-12606del) c.4333_4335del (p.Pro1445del) c.5038_5040del (p.Pro1680del) c.3793_3795del (p.Pro1265del) c.1585-8251_1585-8249del (n.1585-8251_1585-8249del) |