| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 1 | g.185994874G>A | CA1291768 | HMCN1 | c.3565G>A (p.Asp1189Asn) c.1588G>A (p.Asp530Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.185994874G>C | CA343870914 | HMCN1 | c.3565G>C (p.Asp1189His) c.1588G>C (p.Asp530His) | |
| 1 | g.185994874G= | CA1142017908 | HMCN1 | c.3565G= (p.Asp1189=) c.1588G= (p.Asp530=) | |
| 1 | g.185994874G>T | CA343870915 | HMCN1 | c.3565G>T (p.Asp1189Tyr) c.1588G>T (p.Asp530Tyr) | |
| 1 | g.185994875A= | CA1212952137 | HMCN1 | c.3566A= (p.Asp1189=) c.1589A= (p.Asp530=) | |
| 1 | g.185994875A>C | CA343870917 | HMCN1 | c.3566A>C (p.Asp1189Ala) c.1589A>C (p.Asp530Ala) | |
| 1 | g.185994875A>G | CA343870922 | HMCN1 | c.3566A>G (p.Asp1189Gly) c.1589A>G (p.Asp530Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.185994875A>T | CA343870924 | HMCN1 | c.3566A>T (p.Asp1189Val) c.1589A>T (p.Asp530Val) | |
| 1 | g.185994876T>A | CA343870928 | HMCN1 | c.3567T>A (p.Asp1189Glu) c.1590T>A (p.Asp530Glu) | |
| 1 | g.185994876T>C | CA1291769 | HMCN1 | c.3567T>C (p.Asp1189=) c.1590T>C (p.Asp530=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.185994876T>G | CA343870930 | HMCN1 | c.3567T>G (p.Asp1189Glu) c.1590T>G (p.Asp530Glu) | |
| 1 | g.185994876T= | CA1212952139 | HMCN1 | c.3567T= (p.Asp1189=) c.1590T= (p.Asp530=) | |
| 1 | g.185994877A= | CA1212952146 | HMCN1 | c.3568A= (p.Ile1190=) c.1591A= (p.Ile531=) | |
| 1 | g.185994877A>C | CA343870935 | HMCN1 | c.3568A>C (p.Ile1190Leu) c.1591A>C (p.Ile531Leu) | |
| 1 | g.185994877A>G | CA343870938 | HMCN1 | c.3568A>G (p.Ile1190Val) c.1591A>G (p.Ile531Val) | gnomAD v4 |
| 1 | g.185994877A>T | CA33440259 | HMCN1 | c.3568A>T (p.Ile1190Phe) c.1591A>T (p.Ile531Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.185994878T>A | CA343870940 | HMCN1 | c.3569T>A (p.Ile1190Asn) c.1592T>A (p.Ile531Asn) | |
| 1 | g.185994878T>C | CA343870941 | HMCN1 | c.3569T>C (p.Ile1190Thr) c.1592T>C (p.Ile531Thr) | gnomAD v4 COSMIC |
| 1 | g.185994878T>G | CA343870942 | HMCN1 | c.3569T>G (p.Ile1190Ser) c.1592T>G (p.Ile531Ser) | |
| 1 | g.185994879T>A | CA422513385 | HMCN1 | c.3570T>A (p.Ile1190=) c.1593T>A (p.Ile531=) | |
| 1 | g.185994879T>C | CA422513386 | HMCN1 | c.3570T>C (p.Ile1190=) c.1593T>C (p.Ile531=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.185994879T>G | CA343870944 | HMCN1 | c.3570T>G (p.Ile1190Met) c.1593T>G (p.Ile531Met) | |
| 1 | g.185994879T= | CA1212952149 | HMCN1 | c.3570T= (p.Ile1190=) c.1593T= (p.Ile531=) | |
| 1 | g.185994880C>A | CA343870947 | HMCN1 | c.3571C>A (p.Pro1191Thr) c.1594C>A (p.Pro532Thr) |