| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45511195G>A | CA127084 | COL18A1,SLC19A1 | c.4318G>A (p.Asp1440Asn) c.3778G>A (p.Asp1260Asn) c.1822G>A (p.Asp608Asn) c.5023G>A (p.Asp1675Asn) c.498-12583C>T c.732G>A n.2104G>A c.1294-12583C>T (n.1294-12583C>T) c.4309G>A (p.Asp1437Asn) c.5014G>A (p.Asp1672Asn) c.3769G>A (p.Asp1257Asn) c.1585-8226C>T (n.1585-8226C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45511195G>C | CA410502017 | COL18A1,SLC19A1 | c.4318G>C (p.Asp1440His) c.3778G>C (p.Asp1260His) c.1822G>C (p.Asp608His) c.5023G>C (p.Asp1675His) c.498-12583C>G c.732G>C n.2104G>C c.1294-12583C>G (n.1294-12583C>G) c.4309G>C (p.Asp1437His) c.5014G>C (p.Asp1672His) c.3769G>C (p.Asp1257His) c.1585-8226C>G (n.1585-8226C>G) | |
| 21 | g.45511195G= | CA2392195906 | COL18A1,SLC19A1 | c.4318G= (p.Asp1440=) c.3778G= (p.Asp1260=) c.1822G= (p.Asp608=) c.5023G= (p.Asp1675=) c.498-12583C= c.732G= n.2104G= c.1294-12583C= (n.1294-12583C=) c.4309G= (p.Asp1437=) c.5014G= (p.Asp1672=) c.3769G= (p.Asp1257=) c.1585-8226C= (n.1585-8226C=) | |
| 21 | g.45511195G>T | CA410502018 | COL18A1,SLC19A1 | c.4318G>T (p.Asp1440Tyr) c.3778G>T (p.Asp1260Tyr) c.1822G>T (p.Asp608Tyr) c.5023G>T (p.Asp1675Tyr) c.498-12583C>A c.732G>T n.2104G>T c.1294-12583C>A (n.1294-12583C>A) c.4309G>T (p.Asp1437Tyr) c.5014G>T (p.Asp1672Tyr) c.3769G>T (p.Asp1257Tyr) c.1585-8226C>A (n.1585-8226C>A) | gnomAD v4 |
| 21 | g.45511196A>C | CA410502019 | COL18A1,SLC19A1 | c.4319A>C (p.Asp1440Ala) c.3779A>C (p.Asp1260Ala) c.1823A>C (p.Asp608Ala) c.5024A>C (p.Asp1675Ala) c.498-12584T>G c.733A>C n.2105A>C c.1294-12584T>G (n.1294-12584T>G) c.4310A>C (p.Asp1437Ala) c.5015A>C (p.Asp1672Ala) c.3770A>C (p.Asp1257Ala) c.1585-8227T>G (n.1585-8227T>G) | |
| 21 | g.45511196A>G | CA410502020 | COL18A1,SLC19A1 | c.4319A>G (p.Asp1440Gly) c.3779A>G (p.Asp1260Gly) c.1823A>G (p.Asp608Gly) c.5024A>G (p.Asp1675Gly) c.498-12584T>C c.733A>G n.2105A>G c.1294-12584T>C (n.1294-12584T>C) c.4310A>G (p.Asp1437Gly) c.5015A>G (p.Asp1672Gly) c.3770A>G (p.Asp1257Gly) c.1585-8227T>C (n.1585-8227T>C) | |
| 21 | g.45511196A>T | CA410502021 | COL18A1,SLC19A1 | c.4319A>T (p.Asp1440Val) c.3779A>T (p.Asp1260Val) c.1823A>T (p.Asp608Val) c.5024A>T (p.Asp1675Val) c.498-12584T>A c.733A>T n.2105A>T c.1294-12584T>A (n.1294-12584T>A) c.4310A>T (p.Asp1437Val) c.5015A>T (p.Asp1672Val) c.3770A>T (p.Asp1257Val) c.1585-8227T>A (n.1585-8227T>A) | gnomAD v4 |
| 21 | g.45511197C>A | CA410502022 | COL18A1,SLC19A1 | c.4320C>A (p.Asp1440Glu) c.3780C>A (p.Asp1260Glu) c.1824C>A (p.Asp608Glu) c.5025C>A (p.Asp1675Glu) c.498-12585G>T c.734C>A n.2106C>A c.1294-12585G>T (n.1294-12585G>T) c.4311C>A (p.Asp1437Glu) c.5016C>A (p.Asp1672Glu) c.3771C>A (p.Asp1257Glu) c.1585-8228G>T (n.1585-8228G>T) | gnomAD v4 |
| 21 | g.45511197C= | CA2392195907 | COL18A1,SLC19A1 | c.4320C= (p.Asp1440=) c.3780C= (p.Asp1260=) c.1824C= (p.Asp608=) c.5025C= (p.Asp1675=) c.498-12585G= c.734C= n.2106C= c.1294-12585G= (n.1294-12585G=) c.4311C= (p.Asp1437=) c.5016C= (p.Asp1672=) c.3771C= (p.Asp1257=) c.1585-8228G= (n.1585-8228G=) | |
| 21 | g.45511197C>G | CA410502023 | COL18A1,SLC19A1 | c.4320C>G (p.Asp1440Glu) c.3780C>G (p.Asp1260Glu) c.1824C>G (p.Asp608Glu) c.5025C>G (p.Asp1675Glu) c.498-12585G>C c.734C>G n.2106C>G c.1294-12585G>C (n.1294-12585G>C) c.4311C>G (p.Asp1437Glu) c.5016C>G (p.Asp1672Glu) c.3771C>G (p.Asp1257Glu) c.1585-8228G>C (n.1585-8228G>C) | |
| 21 | g.45511197C>T | CA10068070 | COL18A1,SLC19A1 | c.4320C>T (p.Asp1440=) c.3780C>T (p.Asp1260=) c.1824C>T (p.Asp608=) c.5025C>T (p.Asp1675=) c.498-12585G>A c.734C>T n.2106C>T c.1294-12585G>A (n.1294-12585G>A) c.4311C>T (p.Asp1437=) c.5016C>T (p.Asp1672=) c.3771C>T (p.Asp1257=) c.1585-8228G>A (n.1585-8228G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45511198G>A | CA10068071 | COL18A1,SLC19A1 | c.4321G>A (p.Gly1441Ser) c.3781G>A (p.Gly1261Ser) c.1825G>A (p.Gly609Ser) c.5026G>A (p.Gly1676Ser) c.498-12586C>T c.735G>A n.2107G>A c.1294-12586C>T (n.1294-12586C>T) c.4312G>A (p.Gly1438Ser) c.5017G>A (p.Gly1673Ser) c.3772G>A (p.Gly1258Ser) c.1585-8229C>T (n.1585-8229C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45511198G>C | CA410502024 | COL18A1,SLC19A1 | c.4321G>C (p.Gly1441Arg) c.3781G>C (p.Gly1261Arg) c.1825G>C (p.Gly609Arg) c.5026G>C (p.Gly1676Arg) c.498-12586C>G c.735G>C n.2107G>C c.1294-12586C>G (n.1294-12586C>G) c.4312G>C (p.Gly1438Arg) c.5017G>C (p.Gly1673Arg) c.3772G>C (p.Gly1258Arg) c.1585-8229C>G (n.1585-8229C>G) | |
| 21 | g.45511198G= | CA2392195908 | COL18A1,SLC19A1 | c.4321G= (p.Gly1441=) c.3781G= (p.Gly1261=) c.1825G= (p.Gly609=) c.5026G= (p.Gly1676=) c.498-12586C= c.735G= n.2107G= c.1294-12586C= (n.1294-12586C=) c.4312G= (p.Gly1438=) c.5017G= (p.Gly1673=) c.3772G= (p.Gly1258=) c.1585-8229C= (n.1585-8229C=) | |
| 21 | g.45511198G>T | CA410502025 | COL18A1,SLC19A1 | c.4321G>T (p.Gly1441Cys) c.3781G>T (p.Gly1261Cys) c.1825G>T (p.Gly609Cys) c.5026G>T (p.Gly1676Cys) c.498-12586C>A c.735G>T n.2107G>T c.1294-12586C>A (n.1294-12586C>A) c.4312G>T (p.Gly1438Cys) c.5017G>T (p.Gly1673Cys) c.3772G>T (p.Gly1258Cys) c.1585-8229C>A (n.1585-8229C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45511199G>A | CA410502028 | COL18A1,SLC19A1 | c.4322G>A (p.Gly1441Asp) c.3782G>A (p.Gly1261Asp) c.1826G>A (p.Gly609Asp) c.5027G>A (p.Gly1676Asp) c.498-12587C>T c.736G>A n.2108G>A c.1294-12587C>T (n.1294-12587C>T) c.4313G>A (p.Gly1438Asp) c.5018G>A (p.Gly1673Asp) c.3773G>A (p.Gly1258Asp) c.1585-8230C>T (n.1585-8230C>T) | dbSNP gnomAD v4 |
| 21 | g.45511199G>C | CA410502026 | COL18A1,SLC19A1 | c.4322G>C (p.Gly1441Ala) c.3782G>C (p.Gly1261Ala) c.1826G>C (p.Gly609Ala) c.5027G>C (p.Gly1676Ala) c.498-12587C>G c.736G>C n.2108G>C c.1294-12587C>G (n.1294-12587C>G) c.4313G>C (p.Gly1438Ala) c.5018G>C (p.Gly1673Ala) c.3773G>C (p.Gly1258Ala) c.1585-8230C>G (n.1585-8230C>G) | |
| 21 | g.45511199G= | CA2392195909 | COL18A1,SLC19A1 | c.4322G= (p.Gly1441=) c.3782G= (p.Gly1261=) c.1826G= (p.Gly609=) c.5027G= (p.Gly1676=) c.498-12587C= c.736G= n.2108G= c.1294-12587C= (n.1294-12587C=) c.4313G= (p.Gly1438=) c.5018G= (p.Gly1673=) c.3773G= (p.Gly1258=) c.1585-8230C= (n.1585-8230C=) | |
| 21 | g.45511199G>T | CA410502027 | COL18A1,SLC19A1 | c.4322G>T (p.Gly1441Val) c.3782G>T (p.Gly1261Val) c.1826G>T (p.Gly609Val) c.5027G>T (p.Gly1676Val) c.498-12587C>A c.736G>T n.2108G>T c.1294-12587C>A (n.1294-12587C>A) c.4313G>T (p.Gly1438Val) c.5018G>T (p.Gly1673Val) c.3773G>T (p.Gly1258Val) c.1585-8230C>A (n.1585-8230C>A) | |
| 21 | g.45511200C>A | CA512687716 | COL18A1,SLC19A1 | c.4323C>A (p.Gly1441=) c.3783C>A (p.Gly1261=) c.1827C>A (p.Gly609=) c.5028C>A (p.Gly1676=) c.498-12588G>T c.737C>A n.2109C>A c.1294-12588G>T (n.1294-12588G>T) c.4314C>A (p.Gly1438=) c.5019C>A (p.Gly1673=) c.3774C>A (p.Gly1258=) c.1585-8231G>T (n.1585-8231G>T) | gnomAD v4 |
| 21 | g.45511200C>G | CA512687715 | COL18A1,SLC19A1 | c.4323C>G (p.Gly1441=) c.3783C>G (p.Gly1261=) c.1827C>G (p.Gly609=) c.5028C>G (p.Gly1676=) c.498-12588G>C c.737C>G n.2109C>G c.1294-12588G>C (n.1294-12588G>C) c.4314C>G (p.Gly1438=) c.5019C>G (p.Gly1673=) c.3774C>G (p.Gly1258=) c.1585-8231G>C (n.1585-8231G>C) | |
| 21 | g.45511200C>T | CA512687714 | COL18A1,SLC19A1 | c.4323C>T (p.Gly1441=) c.3783C>T (p.Gly1261=) c.1827C>T (p.Gly609=) c.5028C>T (p.Gly1676=) c.498-12588G>A c.737C>T n.2109C>T c.1294-12588G>A (n.1294-12588G>A) c.4314C>T (p.Gly1438=) c.5019C>T (p.Gly1673=) c.3774C>T (p.Gly1258=) c.1585-8231G>A (n.1585-8231G>A) | gnomAD v4 |
| 21 | g.45511201A>C | CA410502029 | COL18A1,SLC19A1 | c.4324A>C (p.Lys1442Gln) c.3784A>C (p.Lys1262Gln) c.1828A>C (p.Lys610Gln) c.5029A>C (p.Lys1677Gln) c.498-12589T>G c.738A>C n.2110A>C c.1294-12589T>G (n.1294-12589T>G) c.4315A>C (p.Lys1439Gln) c.5020A>C (p.Lys1674Gln) c.3775A>C (p.Lys1259Gln) c.1585-8232T>G (n.1585-8232T>G) | |
| 21 | g.45511201A>G | CA410502030 | COL18A1,SLC19A1 | c.4324A>G (p.Lys1442Glu) c.3784A>G (p.Lys1262Glu) c.1828A>G (p.Lys610Glu) c.5029A>G (p.Lys1677Glu) c.498-12589T>C c.738A>G n.2110A>G c.1294-12589T>C (n.1294-12589T>C) c.4315A>G (p.Lys1439Glu) c.5020A>G (p.Lys1674Glu) c.3775A>G (p.Lys1259Glu) c.1585-8232T>C (n.1585-8232T>C) | gnomAD v4 |
| 21 | g.45511201A>T | CA410502031 | COL18A1,SLC19A1 | c.4324A>T (p.Lys1442Ter) c.3784A>T (p.Lys1262Ter) c.1828A>T (p.Lys610Ter) c.5029A>T (p.Lys1677Ter) c.498-12589T>A c.738A>T n.2110A>T c.1294-12589T>A (n.1294-12589T>A) c.4315A>T (p.Lys1439Ter) c.5020A>T (p.Lys1674Ter) c.3775A>T (p.Lys1259Ter) c.1585-8232T>A (n.1585-8232T>A) | |
| 21 | g.45511202A>C | CA410502032 | COL18A1,SLC19A1 | c.4325A>C (p.Lys1442Thr) c.3785A>C (p.Lys1262Thr) c.1829A>C (p.Lys610Thr) c.5030A>C (p.Lys1677Thr) c.498-12590T>G c.739A>C n.2111A>C c.1294-12590T>G (n.1294-12590T>G) c.4316A>C (p.Lys1439Thr) c.5021A>C (p.Lys1674Thr) c.3776A>C (p.Lys1259Thr) c.1585-8233T>G (n.1585-8233T>G) | |
| 21 | g.45511202A>G | CA410502033 | COL18A1,SLC19A1 | c.4325A>G (p.Lys1442Arg) c.3785A>G (p.Lys1262Arg) c.1829A>G (p.Lys610Arg) c.5030A>G (p.Lys1677Arg) c.498-12590T>C c.739A>G n.2111A>G c.1294-12590T>C (n.1294-12590T>C) c.4316A>G (p.Lys1439Arg) c.5021A>G (p.Lys1674Arg) c.3776A>G (p.Lys1259Arg) c.1585-8233T>C (n.1585-8233T>C) | |
| 21 | g.45511202A>T | CA410502034 | COL18A1,SLC19A1 | c.4325A>T (p.Lys1442Met) c.3785A>T (p.Lys1262Met) c.1829A>T (p.Lys610Met) c.5030A>T (p.Lys1677Met) c.498-12590T>A c.739A>T n.2111A>T c.1294-12590T>A (n.1294-12590T>A) c.4316A>T (p.Lys1439Met) c.5021A>T (p.Lys1674Met) c.3776A>T (p.Lys1259Met) c.1585-8233T>A (n.1585-8233T>A) | |
| 21 | g.45511203G>A | CA512687717 | COL18A1,SLC19A1 | c.4326G>A (p.Lys1442=) c.3786G>A (p.Lys1262=) c.1830G>A (p.Lys610=) c.5031G>A (p.Lys1677=) c.498-12591C>T c.740G>A n.2112G>A c.1294-12591C>T (n.1294-12591C>T) c.4317G>A (p.Lys1439=) c.5022G>A (p.Lys1674=) c.3777G>A (p.Lys1259=) c.1585-8234C>T (n.1585-8234C>T) | gnomAD v4 |
| 21 | g.45511203G>C | CA410502035 | COL18A1,SLC19A1 | c.4326G>C (p.Lys1442Asn) c.3786G>C (p.Lys1262Asn) c.1830G>C (p.Lys610Asn) c.5031G>C (p.Lys1677Asn) c.498-12591C>G c.740G>C n.2112G>C c.1294-12591C>G (n.1294-12591C>G) c.4317G>C (p.Lys1439Asn) c.5022G>C (p.Lys1674Asn) c.3777G>C (p.Lys1259Asn) c.1585-8234C>G (n.1585-8234C>G) | |
| 21 | g.45511203G>T | CA410502036 | COL18A1,SLC19A1 | c.4326G>T (p.Lys1442Asn) c.3786G>T (p.Lys1262Asn) c.1830G>T (p.Lys610Asn) c.5031G>T (p.Lys1677Asn) c.498-12591C>A c.740G>T n.2112G>T c.1294-12591C>A (n.1294-12591C>A) c.4317G>T (p.Lys1439Asn) c.5022G>T (p.Lys1674Asn) c.3777G>T (p.Lys1259Asn) c.1585-8234C>A (n.1585-8234C>A) | gnomAD v4 |
| 21 | g.45511204G>A | CA10653683 | COL18A1,SLC19A1 | c.4327G>A (p.Asp1443Asn) c.3787G>A (p.Asp1263Asn) c.1831G>A (p.Asp611Asn) c.5032G>A (p.Asp1678Asn) c.498-12592C>T c.741G>A n.2113G>A c.1294-12592C>T (n.1294-12592C>T) c.4318G>A (p.Asp1440Asn) c.5023G>A (p.Asp1675Asn) c.3778G>A (p.Asp1260Asn) c.1585-8235C>T (n.1585-8235C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45511204G>C | CA410502037 | COL18A1,SLC19A1 | c.4327G>C (p.Asp1443His) c.3787G>C (p.Asp1263His) c.1831G>C (p.Asp611His) c.5032G>C (p.Asp1678His) c.498-12592C>G c.741G>C n.2113G>C c.1294-12592C>G (n.1294-12592C>G) c.4318G>C (p.Asp1440His) c.5023G>C (p.Asp1675His) c.3778G>C (p.Asp1260His) c.1585-8235C>G (n.1585-8235C>G) | |
| 21 | g.45511204G= | CA2392195910 | COL18A1,SLC19A1 | c.4327G= (p.Asp1443=) c.3787G= (p.Asp1263=) c.1831G= (p.Asp611=) c.5032G= (p.Asp1678=) c.498-12592C= c.741G= n.2113G= c.1294-12592C= (n.1294-12592C=) c.4318G= (p.Asp1440=) c.5023G= (p.Asp1675=) c.3778G= (p.Asp1260=) c.1585-8235C= (n.1585-8235C=) | |
| 21 | g.45511204G>T | CA410502038 | COL18A1,SLC19A1 | c.4327G>T (p.Asp1443Tyr) c.3787G>T (p.Asp1263Tyr) c.1831G>T (p.Asp611Tyr) c.5032G>T (p.Asp1678Tyr) c.498-12592C>A c.741G>T n.2113G>T c.1294-12592C>A (n.1294-12592C>A) c.4318G>T (p.Asp1440Tyr) c.5023G>T (p.Asp1675Tyr) c.3778G>T (p.Asp1260Tyr) c.1585-8235C>A (n.1585-8235C>A) | gnomAD v4 |
| 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 |