| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237381026C>A | CA147922 | COL6A3 | c.1168G>T (p.Ala390Ser) c.1786G>T (p.Ala596Ser) c.565G>T (p.Ala189Ser) c.92-3682G>T (n.92-3682G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237381026C= | CA1337627231 | COL6A3 | c.1168G= (p.Ala390=) c.1786G= (p.Ala596=) c.565G= (p.Ala189=) c.92-3682G= (n.92-3682G=) | |
| 2 | g.237381026C>G | CA351216834 | COL6A3 | c.1168G>C (p.Ala390Pro) c.1786G>C (p.Ala596Pro) c.565G>C (p.Ala189Pro) c.92-3682G>C (n.92-3682G>C) | |
| 2 | g.237381026C>T | CA2189557 | COL6A3 | c.1168G>A (p.Ala390Thr) c.1786G>A (p.Ala596Thr) c.565G>A (p.Ala189Thr) c.92-3682G>A (n.92-3682G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 2 | g.237381027G>A | CA2189559 | COL6A3 | c.1167C>T (p.Ile389=) c.1785C>T (p.Ile595=) c.564C>T (p.Ile188=) c.92-3683C>T (n.92-3683C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237381027G>C | CA2189558 | COL6A3 | c.1167C>G (p.Ile389Met) c.1785C>G (p.Ile595Met) c.564C>G (p.Ile188Met) c.92-3683C>G (n.92-3683C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.237381027G= | CA1337627232 | COL6A3 | c.1167C= (p.Ile389=) c.1785C= (p.Ile595=) c.564C= (p.Ile188=) c.92-3683C= (n.92-3683C=) | |
| 2 | g.237381027G>T | CA431712503 | COL6A3 | c.1167C>A (p.Ile389=) c.1785C>A (p.Ile595=) c.564C>A (p.Ile188=) c.92-3683C>A (n.92-3683C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.237381028A>C | CA351216841 | COL6A3 | c.1166T>G (p.Ile389Ser) c.1784T>G (p.Ile595Ser) c.563T>G (p.Ile188Ser) c.92-3684T>G (n.92-3684T>G) | |
| 2 | g.237381028A>G | CA351216843 | COL6A3 | c.1166T>C (p.Ile389Thr) c.1784T>C (p.Ile595Thr) c.563T>C (p.Ile188Thr) c.92-3684T>C (n.92-3684T>C) | |
| 2 | g.237381028A>T | CA351216845 | COL6A3 | c.1166T>A (p.Ile389Asn) c.1784T>A (p.Ile595Asn) c.563T>A (p.Ile188Asn) c.92-3684T>A (n.92-3684T>A) | |
| 2 | g.237381029T>A | CA351216847 | COL6A3 | c.1165A>T (p.Ile389Phe) c.1783A>T (p.Ile595Phe) c.562A>T (p.Ile188Phe) c.92-3685A>T (n.92-3685A>T) | |
| 2 | g.237381029T>C | CA351216848 | COL6A3 | c.1165A>G (p.Ile389Val) c.1783A>G (p.Ile595Val) c.562A>G (p.Ile188Val) c.92-3685A>G (n.92-3685A>G) | gnomAD v4 |
| 2 | g.237381029T>G | CA351216850 | COL6A3 | c.1165A>C (p.Ile389Leu) c.1783A>C (p.Ile595Leu) c.562A>C (p.Ile188Leu) c.92-3685A>C (n.92-3685A>C) | |
| 2 | g.237381030C>A | CA351216853 | COL6A3 | c.1164G>T (p.Glu388Asp) c.1782G>T (p.Glu594Asp) c.561G>T (p.Glu187Asp) c.92-3686G>T (n.92-3686G>T) | |
| 2 | g.237381030C= | CA1337627233 | COL6A3 | c.1164G= (p.Glu388=) c.1782G= (p.Glu594=) c.561G= (p.Glu187=) c.92-3686G= (n.92-3686G=) | |
| 2 | g.237381030C>G | CA351216856 | COL6A3 | c.1164G>C (p.Glu388Asp) c.1782G>C (p.Glu594Asp) c.561G>C (p.Glu187Asp) c.92-3686G>C (n.92-3686G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237381030C>T | CA431712506 | COL6A3 | c.1164G>A (p.Glu388=) c.1782G>A (p.Glu594=) c.561G>A (p.Glu187=) c.92-3686G>A (n.92-3686G>A) | gnomAD v4 |
| 2 | g.237381031T>A | CA351216859 | COL6A3 | c.1163A>T (p.Glu388Val) c.1781A>T (p.Glu594Val) c.560A>T (p.Glu187Val) c.92-3687A>T (n.92-3687A>T) | |
| 2 | g.237381031T>C | CA351216860 | COL6A3 | c.1163A>G (p.Glu388Gly) c.1781A>G (p.Glu594Gly) c.560A>G (p.Glu187Gly) c.92-3687A>G (n.92-3687A>G) | |
| 2 | g.237381031T>G | CA351216861 | COL6A3 | c.1163A>C (p.Glu388Ala) c.1781A>C (p.Glu594Ala) c.560A>C (p.Glu187Ala) c.92-3687A>C (n.92-3687A>C) | |
| 2 | g.237381032C>A | CA351216863 | COL6A3 | c.1162G>T (p.Glu388Ter) c.1780G>T (p.Glu594Ter) c.559G>T (p.Glu187Ter) c.92-3688G>T (n.92-3688G>T) | |
| 2 | g.237381032C= | CA1337627234 | COL6A3 | c.1162G= (p.Glu388=) c.1780G= (p.Glu594=) c.559G= (p.Glu187=) c.92-3688G= (n.92-3688G=) | |
| 2 | g.237381032C>G | CA351216865 | COL6A3 | c.1162G>C (p.Glu388Gln) c.1780G>C (p.Glu594Gln) c.559G>C (p.Glu187Gln) c.92-3688G>C (n.92-3688G>C) | |
| 2 | g.237381032C>T | CA2189560 | COL6A3 | c.1162G>A (p.Glu388Lys) c.1780G>A (p.Glu594Lys) c.559G>A (p.Glu187Lys) c.92-3688G>A (n.92-3688G>A) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.237381033T>A | CA351216866 | COL6A3 | c.1161A>T (p.Glu387Asp) c.1779A>T (p.Glu593Asp) c.558A>T (p.Glu186Asp) c.92-3689A>T (n.92-3689A>T) | |
| 2 | g.237381033T>C | CA431712508 | COL6A3 | c.1161A>G (p.Glu387=) c.1779A>G (p.Glu593=) c.558A>G (p.Glu186=) c.92-3689A>G (n.92-3689A>G) | |
| 2 | g.237381033T>G | CA351216867 | COL6A3 | c.1161A>C (p.Glu387Asp) c.1779A>C (p.Glu593Asp) c.558A>C (p.Glu186Asp) c.92-3689A>C (n.92-3689A>C) | gnomAD v4 |
| 2 | g.237381034T>A | CA351216869 | COL6A3 | c.1160A>T (p.Glu387Val) c.1778A>T (p.Glu593Val) c.557A>T (p.Glu186Val) c.92-3690A>T (n.92-3690A>T) | |
| 2 | g.237381034T>C | CA351216880 | COL6A3 | c.1160A>G (p.Glu387Gly) c.1778A>G (p.Glu593Gly) c.557A>G (p.Glu186Gly) c.92-3690A>G (n.92-3690A>G) | |
| 2 | g.237381034T>G | CA351216879 | COL6A3 | c.1160A>C (p.Glu387Ala) c.1778A>C (p.Glu593Ala) c.557A>C (p.Glu186Ala) c.92-3690A>C (n.92-3690A>C) | |
| 2 | g.237381035C>A | CA351216883 | COL6A3 | c.1159G>T (p.Glu387Ter) c.1777G>T (p.Glu593Ter) c.556G>T (p.Glu186Ter) c.92-3691G>T (n.92-3691G>T) | |
| 2 | g.237381035C>G | CA351216886 | COL6A3 | c.1159G>C (p.Glu387Gln) c.1777G>C (p.Glu593Gln) c.556G>C (p.Glu186Gln) c.92-3691G>C (n.92-3691G>C) | gnomAD v4 |
| 2 | g.237381035C>T | CA351216889 | COL6A3 | c.1159G>A (p.Glu387Lys) c.1777G>A (p.Glu593Lys) c.556G>A (p.Glu186Lys) c.92-3691G>A (n.92-3691G>A) | ClinVar COSMIC COSMIC |
| 2 | g.237381036C>A | CA431712511 | COL6A3 | c.1158G>T (p.Leu386=) c.1776G>T (p.Leu592=) c.555G>T (p.Leu185=) c.92-3692G>T (n.92-3692G>T) | |
| 2 | g.237381036C= | CA1337627235 | COL6A3 | c.1158G= (p.Leu386=) c.1776G= (p.Leu592=) c.555G= (p.Leu185=) c.92-3692G= (n.92-3692G=) | |
| 2 | g.237381036C>G | CA431712512 | COL6A3 | c.1158G>C (p.Leu386=) c.1776G>C (p.Leu592=) c.555G>C (p.Leu185=) c.92-3692G>C (n.92-3692G>C) | |
| 2 | g.237381036C>T | CA2189561 | COL6A3 | c.1158G>A (p.Leu386=) c.1776G>A (p.Leu592=) c.555G>A (p.Leu185=) c.92-3692G>A (n.92-3692G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.237381037A>C | CA351216892 | COL6A3 | c.1157T>G (p.Leu386Arg) c.1775T>G (p.Leu592Arg) c.554T>G (p.Leu185Arg) c.92-3693T>G (n.92-3693T>G) | |
| 2 | g.237381037A>G | CA351216893 | COL6A3 | c.1157T>C (p.Leu386Pro) c.1775T>C (p.Leu592Pro) c.554T>C (p.Leu185Pro) c.92-3693T>C (n.92-3693T>C) | |
| 2 | g.237381037A>T | CA351216894 | COL6A3 | c.1157T>A (p.Leu386Gln) c.1775T>A (p.Leu592Gln) c.554T>A (p.Leu185Gln) c.92-3693T>A (n.92-3693T>A) | |
| 2 | g.237381038G>A | CA431712514 | COL6A3 | c.1156C>T (p.Leu386=) c.1774C>T (p.Leu592=) c.553C>T (p.Leu185=) c.92-3694C>T (n.92-3694C>T) | dbSNP gnomAD v4 |
| 2 | g.237381038G>C | CA351216895 | COL6A3 | c.1156C>G (p.Leu386Val) c.1774C>G (p.Leu592Val) c.553C>G (p.Leu185Val) c.92-3694C>G (n.92-3694C>G) | |
| 2 | g.237381038G= | CA1337627236 | COL6A3 | c.1156C= (p.Leu386=) c.1774C= (p.Leu592=) c.553C= (p.Leu185=) c.92-3694C= (n.92-3694C=) | |
| 2 | g.237381038G>T | CA351216897 | COL6A3 | c.1156C>A (p.Leu386Met) c.1774C>A (p.Leu592Met) c.553C>A (p.Leu185Met) c.92-3694C>A (n.92-3694C>A) | |
| 2 | g.237381039C>A | CA351216898 | COL6A3 | c.1155G>T (p.Glu385Asp) c.1773G>T (p.Glu591Asp) c.552G>T (p.Glu184Asp) c.92-3695G>T (n.92-3695G>T) | gnomAD v4 |
| 2 | g.237381039C>G | CA351216905 | COL6A3 | c.1155G>C (p.Glu385Asp) c.1773G>C (p.Glu591Asp) c.552G>C (p.Glu184Asp) c.92-3695G>C (n.92-3695G>C) | |
| 2 | g.237381039C>T | CA431712516 | COL6A3 | c.1155G>A (p.Glu385=) c.1773G>A (p.Glu591=) c.552G>A (p.Glu184=) c.92-3695G>A (n.92-3695G>A) | |
| 2 | g.237381040T>A | CA351216916 | COL6A3 | c.1154A>T (p.Glu385Val) c.1772A>T (p.Glu591Val) c.551A>T (p.Glu184Val) c.92-3696A>T (n.92-3696A>T) | |
| 2 | g.237381040T>C | CA351216912 | COL6A3 | c.1154A>G (p.Glu385Gly) c.1772A>G (p.Glu591Gly) c.551A>G (p.Glu184Gly) c.92-3696A>G (n.92-3696A>G) |