| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.185994860T>A | CA343870850 | HMCN1 | c.3551T>A (p.Val1184Asp) c.1574T>A (p.Val525Asp) | |
| 1 | g.185994860T>C | CA1291764 | HMCN1 | c.3551T>C (p.Val1184Ala) c.1574T>C (p.Val525Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.185994860T>G | CA343870853 | HMCN1 | c.3551T>G (p.Val1184Gly) c.1574T>G (p.Val525Gly) | |
| 1 | g.185994860T= | CA1143510790 | HMCN1 | c.3551T= (p.Val1184=) c.1574T= (p.Val525=) | |
| 1 | g.185994861T>A | CA422513369 | HMCN1 | c.3552T>A (p.Val1184=) c.1575T>A (p.Val525=) | |
| 1 | g.185994861T>C | CA422513370 | HMCN1 | c.3552T>C (p.Val1184=) c.1575T>C (p.Val525=) | |
| 1 | g.185994861T>G | CA422513371 | HMCN1 | c.3552T>G (p.Val1184=) c.1575T>G (p.Val525=) | |
| 1 | g.185994862G>A | CA343870856 | HMCN1 | c.3553G>A (p.Gly1185Ser) c.1576G>A (p.Gly526Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.185994862G>C | CA343870862 | HMCN1 | c.3553G>C (p.Gly1185Arg) c.1576G>C (p.Gly526Arg) | |
| 1 | g.185994862G= | CA1212952127 | HMCN1 | c.3553G= (p.Gly1185=) c.1576G= (p.Gly526=) | |
| 1 | g.185994862G>T | CA343870867 | HMCN1 | c.3553G>T (p.Gly1185Cys) c.1576G>T (p.Gly526Cys) | |
| 1 | g.185994863G>A | CA343870869 | HMCN1 | c.3554G>A (p.Gly1185Asp) c.1577G>A (p.Gly526Asp) | |
| 1 | g.185994863G>C | CA343870872 | HMCN1 | c.3554G>C (p.Gly1185Ala) c.1577G>C (p.Gly526Ala) | |
| 1 | g.185994863G>T | CA343870871 | HMCN1 | c.3554G>T (p.Gly1185Val) c.1577G>T (p.Gly526Val) | |
| 1 | g.185994864T>A | CA422513372 | HMCN1 | c.3555T>A (p.Gly1185=) c.1578T>A (p.Gly526=) | |
| 1 | g.185994864T>C | CA422513373 | HMCN1 | c.3555T>C (p.Gly1185=) c.1578T>C (p.Gly526=) | dbSNP gnomAD v2 |
| 1 | g.185994864T>G | CA422513374 | HMCN1 | c.3555T>G (p.Gly1185=) c.1578T>G (p.Gly526=) | gnomAD v4 |
| 1 | g.185994864T= | CA1212952128 | HMCN1 | c.3555T= (p.Gly1185=) c.1578T= (p.Gly526=) | |
| 1 | g.185994865C>A | CA343870873 | HMCN1 | c.3556C>A (p.Gln1186Lys) c.1579C>A (p.Gln527Lys) | |
| 1 | g.185994865C>G | CA343870874 | HMCN1 | c.3556C>G (p.Gln1186Glu) c.1579C>G (p.Gln527Glu) | |
| 1 | g.185994865C>T | CA343870875 | HMCN1 | c.3556C>T (p.Gln1186Ter) c.1579C>T (p.Gln527Ter) | |
| 1 | g.185994866A>C | CA343870876 | HMCN1 | c.3557A>C (p.Gln1186Pro) c.1580A>C (p.Gln527Pro) | |
| 1 | g.185994866A>G | CA343870877 | HMCN1 | c.3557A>G (p.Gln1186Arg) c.1580A>G (p.Gln527Arg) | |
| 1 | g.185994866A>T | CA343870878 | HMCN1 | c.3557A>T (p.Gln1186Leu) c.1580A>T (p.Gln527Leu) | gnomAD v4 |
| 1 | g.185994867_185994868del | CA2649550600 | HMCN1 | c.3558_3559del (p.Arg1187SerfsTer6) c.1581_1582del (p.Arg528SerfsTer6) | gnomAD v4 |
| 1 | g.185994867A>C | CA343870880 | HMCN1 | c.3558A>C (p.Gln1186His) c.1581A>C (p.Gln527His) | |
| 1 | g.185994867A>G | CA422513375 | HMCN1 | c.3558A>G (p.Gln1186=) c.1581A>G (p.Gln527=) | |
| 1 | g.185994867A>T | CA343870881 | HMCN1 | c.3558A>T (p.Gln1186His) c.1581A>T (p.Gln527His) | |
| 1 | g.185994868A>C | CA422513376 | HMCN1 | c.3559A>C (p.Arg1187=) c.1582A>C (p.Arg528=) | |
| 1 | g.185994868A>G | CA343870884 | HMCN1 | c.3559A>G (p.Arg1187Gly) c.1582A>G (p.Arg528Gly) | |
| 1 | g.185994868A>T | CA343870885 | HMCN1 | c.3559A>T (p.Arg1187Ter) c.1582A>T (p.Arg528Ter) | |
| 1 | g.185994869G>A | CA1291765 | HMCN1 | c.3560G>A (p.Arg1187Lys) c.1583G>A (p.Arg528Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.185994869G>C | CA343870892 | HMCN1 | c.3560G>C (p.Arg1187Thr) c.1583G>C (p.Arg528Thr) | |
| 1 | g.185994869G= | CA1212952129 | HMCN1 | c.3560G= (p.Arg1187=) c.1583G= (p.Arg528=) | |
| 1 | g.185994869G>T | CA343870887 | HMCN1 | c.3560G>T (p.Arg1187Ile) c.1583G>T (p.Arg528Ile) | ClinVar gnomAD v4 |
| 1 | g.185994870A>C | CA343870898 | HMCN1 | c.3561A>C (p.Arg1187Ser) c.1584A>C (p.Arg528Ser) | |
| 1 | g.185994870A>G | CA422513379 | HMCN1 | c.3561A>G (p.Arg1187=) c.1584A>G (p.Arg528=) | |
| 1 | g.185994870A>T | CA343870902 | HMCN1 | c.3561A>T (p.Arg1187Ser) c.1584A>T (p.Arg528Ser) | COSMIC |
| 1 | g.185994871G>A | CA1291766 | HMCN1 | c.3562G>A (p.Val1188Met) c.1585G>A (p.Val529Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.185994871G>C | CA343870905 | HMCN1 | c.3562G>C (p.Val1188Leu) c.1585G>C (p.Val529Leu) | |
| 1 | g.185994871G= | CA1149064912 | HMCN1 | c.3562G= (p.Val1188=) c.1585G= (p.Val529=) | |
| 1 | g.185994871G>T | CA343870907 | HMCN1 | c.3562G>T (p.Val1188Leu) c.1585G>T (p.Val529Leu) | COSMIC |
| 1 | g.185994872T>A | CA1291767 | HMCN1 | c.3563T>A (p.Val1188Glu) c.1586T>A (p.Val529Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.185994872T>C | CA343870912 | HMCN1 | c.3563T>C (p.Val1188Ala) c.1586T>C (p.Val529Ala) | |
| 1 | g.185994872T>G | CA343870913 | HMCN1 | c.3563T>G (p.Val1188Gly) c.1586T>G (p.Val529Gly) | |
| 1 | g.185994872T= | CA1212952132 | HMCN1 | c.3563T= (p.Val1188=) c.1586T= (p.Val529=) | |
| 1 | g.185994873G>A | CA422513381 | HMCN1 | c.3564G>A (p.Val1188=) c.1587G>A (p.Val529=) | dbSNP COSMIC |
| 1 | g.185994873G>C | CA422513382 | HMCN1 | c.3564G>C (p.Val1188=) c.1587G>C (p.Val529=) | |
| 1 | g.185994873G= | CA1212952135 | HMCN1 | c.3564G= (p.Val1188=) c.1587G= (p.Val529=) | |
| 1 | g.185994873G>T | CA422513383 | HMCN1 | c.3564G>T (p.Val1188=) c.1587G>T (p.Val529=) | gnomAD v4 |