Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.237344331G>A | CA1337610825 | COL6A3 | c.313+19C>T c.7050+19C>T (n.7050+19C>T) c.7668+19C>T (n.7668+19C>T) c.5844+19C>T (n.5844+19C>T) c.5847+19C>T (n.5847+19C>T) n.1941C>T c.7068+19C>T (n.7068+19C>T) c.6447+19C>T (n.6447+19C>T) c.7167+19C>T (n.7167+19C>T) c.7665+19C>T (n.7665+19C>T) c.5262+19C>T (n.5262+19C>T) | dbSNP |
2 | g.237344331G>C | CA2577289607 | COL6A3 | c.313+19C>G c.7050+19C>G (n.7050+19C>G) c.7668+19C>G (n.7668+19C>G) c.5844+19C>G (n.5844+19C>G) c.5847+19C>G (n.5847+19C>G) n.1941C>G c.7068+19C>G (n.7068+19C>G) c.6447+19C>G (n.6447+19C>G) c.7167+19C>G (n.7167+19C>G) c.7665+19C>G (n.7665+19C>G) c.5262+19C>G (n.5262+19C>G) | |
2 | g.237344331G= | CA1337610824 | COL6A3 | c.313+19C= c.7050+19C= (n.7050+19C=) c.7668+19C= (n.7668+19C=) c.5844+19C= (n.5844+19C=) c.5847+19C= (n.5847+19C=) n.1941C= c.7068+19C= (n.7068+19C=) c.6447+19C= (n.6447+19C=) c.7167+19C= (n.7167+19C=) c.7665+19C= (n.7665+19C=) c.5262+19C= (n.5262+19C=) | |
2 | g.237344332C= | CA1337610826 | COL6A3 | c.313+18G= c.7050+18G= (n.7050+18G=) c.7668+18G= (n.7668+18G=) c.5844+18G= (n.5844+18G=) c.5847+18G= (n.5847+18G=) n.1940G= c.7068+18G= (n.7068+18G=) c.6447+18G= (n.6447+18G=) c.7167+18G= (n.7167+18G=) c.7665+18G= (n.7665+18G=) c.5262+18G= (n.5262+18G=) | |
2 | g.237344332C>T | CA540749795 | COL6A3 | c.313+18G>A c.7050+18G>A (n.7050+18G>A) c.7668+18G>A (n.7668+18G>A) c.5844+18G>A (n.5844+18G>A) c.5847+18G>A (n.5847+18G>A) n.1940G>A c.7068+18G>A (n.7068+18G>A) c.6447+18G>A (n.6447+18G>A) c.7167+18G>A (n.7167+18G>A) c.7665+18G>A (n.7665+18G>A) c.5262+18G>A (n.5262+18G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237344334C>A | CA1337610828 | COL6A3 | c.313+16G>T c.7050+16G>T (n.7050+16G>T) c.7668+16G>T (n.7668+16G>T) c.5844+16G>T (n.5844+16G>T) c.5847+16G>T (n.5847+16G>T) n.1938G>T c.7068+16G>T (n.7068+16G>T) c.6447+16G>T (n.6447+16G>T) c.7167+16G>T (n.7167+16G>T) c.7665+16G>T (n.7665+16G>T) c.5262+16G>T (n.5262+16G>T) | dbSNP gnomAD v4 |
2 | g.237344334C= | CA1337610827 | COL6A3 | c.313+16G= c.7050+16G= (n.7050+16G=) c.7668+16G= (n.7668+16G=) c.5844+16G= (n.5844+16G=) c.5847+16G= (n.5847+16G=) n.1938G= c.7068+16G= (n.7068+16G=) c.6447+16G= (n.6447+16G=) c.7167+16G= (n.7167+16G=) c.7665+16G= (n.7665+16G=) c.5262+16G= (n.5262+16G=) | |
2 | g.237344334C>T | CA2187750 | COL6A3 | c.313+16G>A c.7050+16G>A (n.7050+16G>A) c.7668+16G>A (n.7668+16G>A) c.5844+16G>A (n.5844+16G>A) c.5847+16G>A (n.5847+16G>A) n.1938G>A c.7068+16G>A (n.7068+16G>A) c.6447+16G>A (n.6447+16G>A) c.7167+16G>A (n.7167+16G>A) c.7665+16G>A (n.7665+16G>A) c.5262+16G>A (n.5262+16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237344335G>A | CA2187751 | COL6A3 | c.313+15C>T c.7050+15C>T (n.7050+15C>T) c.7668+15C>T (n.7668+15C>T) c.5844+15C>T (n.5844+15C>T) c.5847+15C>T (n.5847+15C>T) n.1937C>T c.7068+15C>T (n.7068+15C>T) c.6447+15C>T (n.6447+15C>T) c.7167+15C>T (n.7167+15C>T) c.7665+15C>T (n.7665+15C>T) c.5262+15C>T (n.5262+15C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237344335G>C | CA2663794491 | COL6A3 | c.313+15C>G c.7050+15C>G (n.7050+15C>G) c.7668+15C>G (n.7668+15C>G) c.5844+15C>G (n.5844+15C>G) c.5847+15C>G (n.5847+15C>G) n.1937C>G c.7068+15C>G (n.7068+15C>G) c.6447+15C>G (n.6447+15C>G) c.7167+15C>G (n.7167+15C>G) c.7665+15C>G (n.7665+15C>G) c.5262+15C>G (n.5262+15C>G) | gnomAD v4 |
2 | g.237344335G= | CA1337610829 | COL6A3 | c.313+15C= c.7050+15C= (n.7050+15C=) c.7668+15C= (n.7668+15C=) c.5844+15C= (n.5844+15C=) c.5847+15C= (n.5847+15C=) n.1937C= c.7068+15C= (n.7068+15C=) c.6447+15C= (n.6447+15C=) c.7167+15C= (n.7167+15C=) c.7665+15C= (n.7665+15C=) c.5262+15C= (n.5262+15C=) | |
2 | g.237344335G>T | CA540749796 | COL6A3 | c.313+15C>A c.7050+15C>A (n.7050+15C>A) c.7668+15C>A (n.7668+15C>A) c.5844+15C>A (n.5844+15C>A) c.5847+15C>A (n.5847+15C>A) n.1937C>A c.7068+15C>A (n.7068+15C>A) c.6447+15C>A (n.6447+15C>A) c.7167+15C>A (n.7167+15C>A) c.7665+15C>A (n.7665+15C>A) c.5262+15C>A (n.5262+15C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237344336C= | CA1337610830 | COL6A3 | c.313+14G= c.7050+14G= (n.7050+14G=) c.7668+14G= (n.7668+14G=) c.5844+14G= (n.5844+14G=) c.5847+14G= (n.5847+14G=) n.1936G= c.7068+14G= (n.7068+14G=) c.6447+14G= (n.6447+14G=) c.7167+14G= (n.7167+14G=) c.7665+14G= (n.7665+14G=) c.5262+14G= (n.5262+14G=) | |
2 | g.237344336C>T | CA67838895 | COL6A3 | c.313+14G>A c.7050+14G>A (n.7050+14G>A) c.7668+14G>A (n.7668+14G>A) c.5844+14G>A (n.5844+14G>A) c.5847+14G>A (n.5847+14G>A) n.1936G>A c.7068+14G>A (n.7068+14G>A) c.6447+14G>A (n.6447+14G>A) c.7167+14G>A (n.7167+14G>A) c.7665+14G>A (n.7665+14G>A) c.5262+14G>A (n.5262+14G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237344337A>G | CA2663794498 | COL6A3 | c.313+13T>C c.7050+13T>C (n.7050+13T>C) c.7668+13T>C (n.7668+13T>C) c.5844+13T>C (n.5844+13T>C) c.5847+13T>C (n.5847+13T>C) n.1935T>C c.7068+13T>C (n.7068+13T>C) c.6447+13T>C (n.6447+13T>C) c.7167+13T>C (n.7167+13T>C) c.7665+13T>C (n.7665+13T>C) c.5262+13T>C (n.5262+13T>C) | gnomAD v4 |
2 | g.237344340G>A | CA2754786816 | COL6A3 | c.313+10C>T c.7050+10C>T (n.7050+10C>T) c.7668+10C>T (n.7668+10C>T) c.5844+10C>T (n.5844+10C>T) c.5847+10C>T (n.5847+10C>T) n.1932C>T c.7068+10C>T (n.7068+10C>T) c.6447+10C>T (n.6447+10C>T) c.7167+10C>T (n.7167+10C>T) c.7665+10C>T (n.7665+10C>T) c.5262+10C>T (n.5262+10C>T) | |
2 | g.237344340G>C | CA766629359 | COL6A3 | c.313+10C>G c.7050+10C>G (n.7050+10C>G) c.7668+10C>G (n.7668+10C>G) c.5844+10C>G (n.5844+10C>G) c.5847+10C>G (n.5847+10C>G) n.1932C>G c.7068+10C>G (n.7068+10C>G) c.6447+10C>G (n.6447+10C>G) c.7167+10C>G (n.7167+10C>G) c.7665+10C>G (n.7665+10C>G) c.5262+10C>G (n.5262+10C>G) | dbSNP gnomAD v4 |
2 | g.237344340G= | CA1337610831 | COL6A3 | c.313+10C= c.7050+10C= (n.7050+10C=) c.7668+10C= (n.7668+10C=) c.5844+10C= (n.5844+10C=) c.5847+10C= (n.5847+10C=) n.1932C= c.7068+10C= (n.7068+10C=) c.6447+10C= (n.6447+10C=) c.7167+10C= (n.7167+10C=) c.7665+10C= (n.7665+10C=) c.5262+10C= (n.5262+10C=) | |
2 | g.237344342G>A | CA2663794500 | COL6A3 | c.313+8C>T c.7050+8C>T (n.7050+8C>T) c.7668+8C>T (n.7668+8C>T) c.5844+8C>T (n.5844+8C>T) c.5847+8C>T (n.5847+8C>T) n.1930C>T c.7068+8C>T (n.7068+8C>T) c.6447+8C>T (n.6447+8C>T) c.7167+8C>T (n.7167+8C>T) c.7665+8C>T (n.7665+8C>T) c.5262+8C>T (n.5262+8C>T) | gnomAD v4 |
2 | g.237344345C>G | CA2697550604 | COL6A3 | c.313+5G>C c.7050+5G>C (n.7050+5G>C) c.7668+5G>C (n.7668+5G>C) c.5844+5G>C (n.5844+5G>C) c.5847+5G>C (n.5847+5G>C) n.1927G>C c.7068+5G>C (n.7068+5G>C) c.6447+5G>C (n.6447+5G>C) c.7167+5G>C (n.7167+5G>C) c.7665+5G>C (n.7665+5G>C) c.5262+5G>C (n.5262+5G>C) | ClinVar |
2 | g.237344347G>A | CA2663794502 | COL6A3 | c.313+3C>T c.7050+3C>T (n.7050+3C>T) c.7668+3C>T (n.7668+3C>T) c.5844+3C>T (n.5844+3C>T) c.5847+3C>T (n.5847+3C>T) n.1925C>T c.7068+3C>T (n.7068+3C>T) c.6447+3C>T (n.6447+3C>T) c.7167+3C>T (n.7167+3C>T) c.7665+3C>T (n.7665+3C>T) c.5262+3C>T (n.5262+3C>T) | gnomAD v4 |
2 | g.237344347G= | CA1337610832 | COL6A3 | c.313+3C= c.7050+3C= (n.7050+3C=) c.7668+3C= (n.7668+3C=) c.5844+3C= (n.5844+3C=) c.5847+3C= (n.5847+3C=) n.1925C= c.7068+3C= (n.7068+3C=) c.6447+3C= (n.6447+3C=) c.7167+3C= (n.7167+3C=) c.7665+3C= (n.7665+3C=) c.5262+3C= (n.5262+3C=) | |
2 | g.237344347G>T | CA2187752 | COL6A3 | c.313+3C>A c.7050+3C>A (n.7050+3C>A) c.7668+3C>A (n.7668+3C>A) c.5844+3C>A (n.5844+3C>A) c.5847+3C>A (n.5847+3C>A) n.1925C>A c.7068+3C>A (n.7068+3C>A) c.6447+3C>A (n.6447+3C>A) c.7167+3C>A (n.7167+3C>A) c.7665+3C>A (n.7665+3C>A) c.5262+3C>A (n.5262+3C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237344348A>C | CA351201407 | COL6A3 | c.313+2T>G c.7050+2T>G (n.7050+2T>G) c.7668+2T>G (n.7668+2T>G) c.5844+2T>G (n.5844+2T>G) c.5847+2T>G (n.5847+2T>G) n.1924T>G c.7068+2T>G (n.7068+2T>G) c.6447+2T>G (n.6447+2T>G) c.7167+2T>G (n.7167+2T>G) c.7665+2T>G (n.7665+2T>G) c.5262+2T>G (n.5262+2T>G) | |
2 | g.237344348A>G | CA351201413 | COL6A3 | c.313+2T>C c.7050+2T>C (n.7050+2T>C) c.7668+2T>C (n.7668+2T>C) c.5844+2T>C (n.5844+2T>C) c.5847+2T>C (n.5847+2T>C) n.1924T>C c.7068+2T>C (n.7068+2T>C) c.6447+2T>C (n.6447+2T>C) c.7167+2T>C (n.7167+2T>C) c.7665+2T>C (n.7665+2T>C) c.5262+2T>C (n.5262+2T>C) | |
2 | g.237344348A>T | CA351201415 | COL6A3 | c.313+2T>A c.7050+2T>A (n.7050+2T>A) c.7668+2T>A (n.7668+2T>A) c.5844+2T>A (n.5844+2T>A) c.5847+2T>A (n.5847+2T>A) n.1924T>A c.7068+2T>A (n.7068+2T>A) c.6447+2T>A (n.6447+2T>A) c.7167+2T>A (n.7167+2T>A) c.7665+2T>A (n.7665+2T>A) c.5262+2T>A (n.5262+2T>A) | |
2 | g.237344349C>A | CA351201420 | COL6A3 | c.313+1G>T c.7050+1G>T (n.7050+1G>T) c.7668+1G>T (n.7668+1G>T) c.5844+1G>T (n.5844+1G>T) c.5847+1G>T (n.5847+1G>T) n.1923G>T c.7068+1G>T (n.7068+1G>T) c.6447+1G>T (n.6447+1G>T) c.7167+1G>T (n.7167+1G>T) c.7665+1G>T (n.7665+1G>T) c.5262+1G>T (n.5262+1G>T) | gnomAD v4 |
2 | g.237344349C>G | CA351201425 | COL6A3 | c.313+1G>C c.7050+1G>C (n.7050+1G>C) c.7668+1G>C (n.7668+1G>C) c.5844+1G>C (n.5844+1G>C) c.5847+1G>C (n.5847+1G>C) n.1923G>C c.7068+1G>C (n.7068+1G>C) c.6447+1G>C (n.6447+1G>C) c.7167+1G>C (n.7167+1G>C) c.7665+1G>C (n.7665+1G>C) c.5262+1G>C (n.5262+1G>C) | |
2 | g.237344349C>T | CA351201422 | COL6A3 | c.313+1G>A c.7050+1G>A (n.7050+1G>A) c.7668+1G>A (n.7668+1G>A) c.5844+1G>A (n.5844+1G>A) c.5847+1G>A (n.5847+1G>A) n.1923G>A c.7068+1G>A (n.7068+1G>A) c.6447+1G>A (n.6447+1G>A) c.7167+1G>A (n.7167+1G>A) c.7665+1G>A (n.7665+1G>A) c.5262+1G>A (n.5262+1G>A) | |
2 | g.237344350C>A | CA351201429 | COL6A3 | c.313G>T c.7050G>T (p.Gln2350His) c.7668G>T (p.Gln2556His) c.5844G>T (p.Gln1948His) c.5847G>T (p.Gln1949His) n.1922G>T c.7068G>T (p.Gln2356His) c.6447G>T (p.Gln2149His) c.7167G>T (p.Gln2389His) c.7665G>T (p.Gln2555His) c.5262G>T (p.Gln1754His) | ClinVar dbSNP |
2 | g.237344350C= | CA1337610833 | COL6A3 | c.313G= c.7050G= (p.Gln2350=) c.7668G= (p.Gln2556=) c.5844G= (p.Gln1948=) c.5847G= (p.Gln1949=) n.1922G= c.7068G= (p.Gln2356=) c.6447G= (p.Gln2149=) c.7167G= (p.Gln2389=) c.7665G= (p.Gln2555=) c.5262G= (p.Gln1754=) | |
2 | g.237344350C>G | CA351201431 | COL6A3 | c.313G>C c.7050G>C (p.Gln2350His) c.7668G>C (p.Gln2556His) c.5844G>C (p.Gln1948His) c.5847G>C (p.Gln1949His) n.1922G>C c.7068G>C (p.Gln2356His) c.6447G>C (p.Gln2149His) c.7167G>C (p.Gln2389His) c.7665G>C (p.Gln2555His) c.5262G>C (p.Gln1754His) | |
2 | g.237344350C>T | CA431710094 | COL6A3 | c.313G>A c.7050G>A (p.Gln2350=) c.7668G>A (p.Gln2556=) c.5844G>A (p.Gln1948=) c.5847G>A (p.Gln1949=) n.1922G>A c.7068G>A (p.Gln2356=) c.6447G>A (p.Gln2149=) c.7167G>A (p.Gln2389=) c.7665G>A (p.Gln2555=) c.5262G>A (p.Gln1754=) | |
2 | g.237344351T>A | CA351201432 | COL6A3 | c.312A>T c.7049A>T (p.Gln2350Leu) c.7667A>T (p.Gln2556Leu) c.5843A>T (p.Gln1948Leu) c.5846A>T (p.Gln1949Leu) n.1921A>T c.7067A>T (p.Gln2356Leu) c.6446A>T (p.Gln2149Leu) c.7166A>T (p.Gln2389Leu) c.7664A>T (p.Gln2555Leu) c.5261A>T (p.Gln1754Leu) | |
2 | g.237344351T>C | CA351201433 | COL6A3 | c.312A>G c.7049A>G (p.Gln2350Arg) c.7667A>G (p.Gln2556Arg) c.5843A>G (p.Gln1948Arg) c.5846A>G (p.Gln1949Arg) n.1921A>G c.7067A>G (p.Gln2356Arg) c.6446A>G (p.Gln2149Arg) c.7166A>G (p.Gln2389Arg) c.7664A>G (p.Gln2555Arg) c.5261A>G (p.Gln1754Arg) | |
2 | g.237344351T>G | CA351201434 | COL6A3 | c.312A>C c.7049A>C (p.Gln2350Pro) c.7667A>C (p.Gln2556Pro) c.5843A>C (p.Gln1948Pro) c.5846A>C (p.Gln1949Pro) n.1921A>C c.7067A>C (p.Gln2356Pro) c.6446A>C (p.Gln2149Pro) c.7166A>C (p.Gln2389Pro) c.7664A>C (p.Gln2555Pro) c.5261A>C (p.Gln1754Pro) | |
2 | g.237344352G>A | CA351201437 | COL6A3 | c.311C>T c.7048C>T (p.Gln2350Ter) c.7666C>T (p.Gln2556Ter) c.5842C>T (p.Gln1948Ter) c.5845C>T (p.Gln1949Ter) n.1920C>T c.7066C>T (p.Gln2356Ter) c.6445C>T (p.Gln2149Ter) c.7165C>T (p.Gln2389Ter) c.7663C>T (p.Gln2555Ter) c.5260C>T (p.Gln1754Ter) | ClinVar dbSNP |
2 | g.237344352G>C | CA351201440 | COL6A3 | c.311C>G c.7048C>G (p.Gln2350Glu) c.7666C>G (p.Gln2556Glu) c.5842C>G (p.Gln1948Glu) c.5845C>G (p.Gln1949Glu) n.1920C>G c.7066C>G (p.Gln2356Glu) c.6445C>G (p.Gln2149Glu) c.7165C>G (p.Gln2389Glu) c.7663C>G (p.Gln2555Glu) c.5260C>G (p.Gln1754Glu) | |
2 | g.237344352G= | CA1337610834 | COL6A3 | c.311C= c.7048C= (p.Gln2350=) c.7666C= (p.Gln2556=) c.5842C= (p.Gln1948=) c.5845C= (p.Gln1949=) n.1920C= c.7066C= (p.Gln2356=) c.6445C= (p.Gln2149=) c.7165C= (p.Gln2389=) c.7663C= (p.Gln2555=) c.5260C= (p.Gln1754=) | |
2 | g.237344352G>T | CA351201443 | COL6A3 | c.311C>A c.7048C>A (p.Gln2350Lys) c.7666C>A (p.Gln2556Lys) c.5842C>A (p.Gln1948Lys) c.5845C>A (p.Gln1949Lys) n.1920C>A c.7066C>A (p.Gln2356Lys) c.6445C>A (p.Gln2149Lys) c.7165C>A (p.Gln2389Lys) c.7663C>A (p.Gln2555Lys) c.5260C>A (p.Gln1754Lys) | |
2 | g.237344353C>A | CA351201446 | COL6A3 | c.310G>T c.7047G>T (p.Leu2349Phe) c.7665G>T (p.Leu2555Phe) c.5841G>T (p.Leu1947Phe) c.5844G>T (p.Leu1948Phe) n.1919G>T c.7065G>T (p.Leu2355Phe) c.6444G>T (p.Leu2148Phe) c.7164G>T (p.Leu2388Phe) c.7662G>T (p.Leu2554Phe) c.5259G>T (p.Leu1753Phe) | |
2 | g.237344353C>G | CA351201448 | COL6A3 | c.310G>C c.7047G>C (p.Leu2349Phe) c.7665G>C (p.Leu2555Phe) c.5841G>C (p.Leu1947Phe) c.5844G>C (p.Leu1948Phe) n.1919G>C c.7065G>C (p.Leu2355Phe) c.6444G>C (p.Leu2148Phe) c.7164G>C (p.Leu2388Phe) c.7662G>C (p.Leu2554Phe) c.5259G>C (p.Leu1753Phe) | |
2 | g.237344353C>T | CA431710095 | COL6A3 | c.310G>A c.7047G>A (p.Leu2349=) c.7665G>A (p.Leu2555=) c.5841G>A (p.Leu1947=) c.5844G>A (p.Leu1948=) n.1919G>A c.7065G>A (p.Leu2355=) c.6444G>A (p.Leu2148=) c.7164G>A (p.Leu2388=) c.7662G>A (p.Leu2554=) c.5259G>A (p.Leu1753=) | |
2 | g.237344354A>C | CA351201453 | COL6A3 | c.309T>G c.7046T>G (p.Leu2349Trp) c.7664T>G (p.Leu2555Trp) c.5840T>G (p.Leu1947Trp) c.5843T>G (p.Leu1948Trp) n.1918T>G c.7064T>G (p.Leu2355Trp) c.6443T>G (p.Leu2148Trp) c.7163T>G (p.Leu2388Trp) c.7661T>G (p.Leu2554Trp) c.5258T>G (p.Leu1753Trp) | |
2 | g.237344354A>G | CA351201455 | COL6A3 | c.309T>C c.7046T>C (p.Leu2349Ser) c.7664T>C (p.Leu2555Ser) c.5840T>C (p.Leu1947Ser) c.5843T>C (p.Leu1948Ser) n.1918T>C c.7064T>C (p.Leu2355Ser) c.6443T>C (p.Leu2148Ser) c.7163T>C (p.Leu2388Ser) c.7661T>C (p.Leu2554Ser) c.5258T>C (p.Leu1753Ser) | |
2 | g.237344354A>T | CA351201457 | COL6A3 | c.309T>A c.7046T>A (p.Leu2349Ter) c.7664T>A (p.Leu2555Ter) c.5840T>A (p.Leu1947Ter) c.5843T>A (p.Leu1948Ter) n.1918T>A c.7064T>A (p.Leu2355Ter) c.6443T>A (p.Leu2148Ter) c.7163T>A (p.Leu2388Ter) c.7661T>A (p.Leu2554Ter) c.5258T>A (p.Leu1753Ter) | |
2 | g.237344355A>C | CA351201463 | COL6A3 | c.308T>G c.7045T>G (p.Leu2349Val) c.7663T>G (p.Leu2555Val) c.5839T>G (p.Leu1947Val) c.5842T>G (p.Leu1948Val) n.1917T>G c.7063T>G (p.Leu2355Val) c.6442T>G (p.Leu2148Val) c.7162T>G (p.Leu2388Val) c.7660T>G (p.Leu2554Val) c.5257T>G (p.Leu1753Val) | |
2 | g.237344355A>G | CA431710096 | COL6A3 | c.308T>C c.7045T>C (p.Leu2349=) c.7663T>C (p.Leu2555=) c.5839T>C (p.Leu1947=) c.5842T>C (p.Leu1948=) n.1917T>C c.7063T>C (p.Leu2355=) c.6442T>C (p.Leu2148=) c.7162T>C (p.Leu2388=) c.7660T>C (p.Leu2554=) c.5257T>C (p.Leu1753=) | |
2 | g.237344355A>T | CA351201460 | COL6A3 | c.308T>A c.7045T>A (p.Leu2349Met) c.7663T>A (p.Leu2555Met) c.5839T>A (p.Leu1947Met) c.5842T>A (p.Leu1948Met) n.1917T>A c.7063T>A (p.Leu2355Met) c.6442T>A (p.Leu2148Met) c.7162T>A (p.Leu2388Met) c.7660T>A (p.Leu2554Met) c.5257T>A (p.Leu1753Met) | |
2 | g.237344356A>C | CA431710097 | COL6A3 | c.307T>G c.7044T>G (p.Ala2348=) c.7662T>G (p.Ala2554=) c.5838T>G (p.Ala1946=) c.5841T>G (p.Ala1947=) n.1916T>G c.7062T>G (p.Ala2354=) c.6441T>G (p.Ala2147=) c.7161T>G (p.Ala2387=) c.7659T>G (p.Ala2553=) c.5256T>G (p.Ala1752=) | |
2 | g.237344356A>G | CA431710098 | COL6A3 | c.307T>C c.7044T>C (p.Ala2348=) c.7662T>C (p.Ala2554=) c.5838T>C (p.Ala1946=) c.5841T>C (p.Ala1947=) n.1916T>C c.7062T>C (p.Ala2354=) c.6441T>C (p.Ala2147=) c.7161T>C (p.Ala2387=) c.7659T>C (p.Ala2553=) c.5256T>C (p.Ala1752=) | |
2 | g.237344356A>T | CA431710099 | COL6A3 | c.307T>A c.7044T>A (p.Ala2348=) c.7662T>A (p.Ala2554=) c.5838T>A (p.Ala1946=) c.5841T>A (p.Ala1947=) n.1916T>A c.7062T>A (p.Ala2354=) c.6441T>A (p.Ala2147=) c.7161T>A (p.Ala2387=) c.7659T>A (p.Ala2553=) c.5256T>A (p.Ala1752=) | |
2 | g.237344357G>A | CA351201477 | COL6A3 | c.306C>T c.7043C>T (p.Ala2348Val) c.7661C>T (p.Ala2554Val) c.5837C>T (p.Ala1946Val) c.5840C>T (p.Ala1947Val) n.1915C>T c.7061C>T (p.Ala2354Val) c.6440C>T (p.Ala2147Val) c.7160C>T (p.Ala2387Val) c.7658C>T (p.Ala2553Val) c.5255C>T (p.Ala1752Val) | |
2 | g.237344357G>C | CA351201479 | COL6A3 | c.306C>G c.7043C>G (p.Ala2348Gly) c.7661C>G (p.Ala2554Gly) c.5837C>G (p.Ala1946Gly) c.5840C>G (p.Ala1947Gly) n.1915C>G c.7061C>G (p.Ala2354Gly) c.6440C>G (p.Ala2147Gly) c.7160C>G (p.Ala2387Gly) c.7658C>G (p.Ala2553Gly) c.5255C>G (p.Ala1752Gly) | |
2 | g.237344357G>T | CA351201480 | COL6A3 | c.306C>A c.7043C>A (p.Ala2348Asp) c.7661C>A (p.Ala2554Asp) c.5837C>A (p.Ala1946Asp) c.5840C>A (p.Ala1947Asp) n.1915C>A c.7061C>A (p.Ala2354Asp) c.6440C>A (p.Ala2147Asp) c.7160C>A (p.Ala2387Asp) c.7658C>A (p.Ala2553Asp) c.5255C>A (p.Ala1752Asp) | gnomAD v4 |
2 | g.237344358C>A | CA351201483 | COL6A3 | c.305G>T c.7042G>T (p.Ala2348Ser) c.7660G>T (p.Ala2554Ser) c.5836G>T (p.Ala1946Ser) c.5839G>T (p.Ala1947Ser) n.1914G>T c.7060G>T (p.Ala2354Ser) c.6439G>T (p.Ala2147Ser) c.7159G>T (p.Ala2387Ser) c.7657G>T (p.Ala2553Ser) c.5254G>T (p.Ala1752Ser) | COSMIC |
2 | g.237344358C= | CA1337610835 | COL6A3 | c.305G= c.7042G= (p.Ala2348=) c.7660G= (p.Ala2554=) c.5836G= (p.Ala1946=) c.5839G= (p.Ala1947=) n.1914G= c.7060G= (p.Ala2354=) c.6439G= (p.Ala2147=) c.7159G= (p.Ala2387=) c.7657G= (p.Ala2553=) c.5254G= (p.Ala1752=) | |
2 | g.237344358C>G | CA351201486 | COL6A3 | c.305G>C c.7042G>C (p.Ala2348Pro) c.7660G>C (p.Ala2554Pro) c.5836G>C (p.Ala1946Pro) c.5839G>C (p.Ala1947Pro) n.1914G>C c.7060G>C (p.Ala2354Pro) c.6439G>C (p.Ala2147Pro) c.7159G>C (p.Ala2387Pro) c.7657G>C (p.Ala2553Pro) c.5254G>C (p.Ala1752Pro) | |
2 | g.237344358C>T | CA200139 | COL6A3 | c.305G>A c.7042G>A (p.Ala2348Thr) c.7660G>A (p.Ala2554Thr) c.5836G>A (p.Ala1946Thr) c.5839G>A (p.Ala1947Thr) n.1914G>A c.7060G>A (p.Ala2354Thr) c.6439G>A (p.Ala2147Thr) c.7159G>A (p.Ala2387Thr) c.7657G>A (p.Ala2553Thr) c.5254G>A (p.Ala1752Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237344359G>A | CA2187753 | COL6A3 | c.304C>T c.7041C>T (p.Asn2347=) c.7659C>T (p.Asn2553=) c.5835C>T (p.Asn1945=) c.5838C>T (p.Asn1946=) n.1913C>T c.7059C>T (p.Asn2353=) c.6438C>T (p.Asn2146=) c.7158C>T (p.Asn2386=) c.7656C>T (p.Asn2552=) c.5253C>T (p.Asn1751=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237344359G>C | CA351201494 | COL6A3 | c.304C>G c.7041C>G (p.Asn2347Lys) c.7659C>G (p.Asn2553Lys) c.5835C>G (p.Asn1945Lys) c.5838C>G (p.Asn1946Lys) n.1913C>G c.7059C>G (p.Asn2353Lys) c.6438C>G (p.Asn2146Lys) c.7158C>G (p.Asn2386Lys) c.7656C>G (p.Asn2552Lys) c.5253C>G (p.Asn1751Lys) | gnomAD v4 |
2 | g.237344359G= | CA1337610836 | COL6A3 | c.304C= c.7041C= (p.Asn2347=) c.7659C= (p.Asn2553=) c.5835C= (p.Asn1945=) c.5838C= (p.Asn1946=) n.1913C= c.7059C= (p.Asn2353=) c.6438C= (p.Asn2146=) c.7158C= (p.Asn2386=) c.7656C= (p.Asn2552=) c.5253C= (p.Asn1751=) | |
2 | g.237344359G>T | CA351201497 | COL6A3 | c.304C>A c.7041C>A (p.Asn2347Lys) c.7659C>A (p.Asn2553Lys) c.5835C>A (p.Asn1945Lys) c.5838C>A (p.Asn1946Lys) n.1913C>A c.7059C>A (p.Asn2353Lys) c.6438C>A (p.Asn2146Lys) c.7158C>A (p.Asn2386Lys) c.7656C>A (p.Asn2552Lys) c.5253C>A (p.Asn1751Lys) | |
2 | g.237344360T>A | CA351201499 | COL6A3 | c.303A>T c.7040A>T (p.Asn2347Ile) c.7658A>T (p.Asn2553Ile) c.5834A>T (p.Asn1945Ile) c.5837A>T (p.Asn1946Ile) n.1912A>T c.7058A>T (p.Asn2353Ile) c.6437A>T (p.Asn2146Ile) c.7157A>T (p.Asn2386Ile) c.7655A>T (p.Asn2552Ile) c.5252A>T (p.Asn1751Ile) | |
2 | g.237344360T>C | CA67838903 | COL6A3 | c.303A>G c.7040A>G (p.Asn2347Ser) c.7658A>G (p.Asn2553Ser) c.5834A>G (p.Asn1945Ser) c.5837A>G (p.Asn1946Ser) n.1912A>G c.7058A>G (p.Asn2353Ser) c.6437A>G (p.Asn2146Ser) c.7157A>G (p.Asn2386Ser) c.7655A>G (p.Asn2552Ser) c.5252A>G (p.Asn1751Ser) | dbSNP gnomAD v4 |
2 | g.237344360T>G | CA351201502 | COL6A3 | c.303A>C c.7040A>C (p.Asn2347Thr) c.7658A>C (p.Asn2553Thr) c.5834A>C (p.Asn1945Thr) c.5837A>C (p.Asn1946Thr) n.1912A>C c.7058A>C (p.Asn2353Thr) c.6437A>C (p.Asn2146Thr) c.7157A>C (p.Asn2386Thr) c.7655A>C (p.Asn2552Thr) c.5252A>C (p.Asn1751Thr) | |
2 | g.237344360T= | CA1337610837 | COL6A3 | c.303A= c.7040A= (p.Asn2347=) c.7658A= (p.Asn2553=) c.5834A= (p.Asn1945=) c.5837A= (p.Asn1946=) n.1912A= c.7058A= (p.Asn2353=) c.6437A= (p.Asn2146=) c.7157A= (p.Asn2386=) c.7655A= (p.Asn2552=) c.5252A= (p.Asn1751=) | |
2 | g.237344361T>A | CA351201507 | COL6A3 | c.302A>T c.7039A>T (p.Asn2347Tyr) c.7657A>T (p.Asn2553Tyr) c.5833A>T (p.Asn1945Tyr) c.5836A>T (p.Asn1946Tyr) n.1911A>T c.7057A>T (p.Asn2353Tyr) c.6436A>T (p.Asn2146Tyr) c.7156A>T (p.Asn2386Tyr) c.7654A>T (p.Asn2552Tyr) c.5251A>T (p.Asn1751Tyr) | |
2 | g.237344361T>C | CA351201510 | COL6A3 | c.302A>G c.7039A>G (p.Asn2347Asp) c.7657A>G (p.Asn2553Asp) c.5833A>G (p.Asn1945Asp) c.5836A>G (p.Asn1946Asp) n.1911A>G c.7057A>G (p.Asn2353Asp) c.6436A>G (p.Asn2146Asp) c.7156A>G (p.Asn2386Asp) c.7654A>G (p.Asn2552Asp) c.5251A>G (p.Asn1751Asp) | |
2 | g.237344361T>G | CA351201506 | COL6A3 | c.302A>C c.7039A>C (p.Asn2347His) c.7657A>C (p.Asn2553His) c.5833A>C (p.Asn1945His) c.5836A>C (p.Asn1946His) n.1911A>C c.7057A>C (p.Asn2353His) c.6436A>C (p.Asn2146His) c.7156A>C (p.Asn2386His) c.7654A>C (p.Asn2552His) c.5251A>C (p.Asn1751His) | |
2 | g.237344362G>A | CA431710101 | COL6A3 | c.301C>T c.7038C>T (p.Ile2346=) c.7656C>T (p.Ile2552=) c.5832C>T (p.Ile1944=) c.5835C>T (p.Ile1945=) n.1910C>T c.7056C>T (p.Ile2352=) c.6435C>T (p.Ile2145=) c.7155C>T (p.Ile2385=) c.7653C>T (p.Ile2551=) c.5250C>T (p.Ile1750=) | |
2 | g.237344362G>C | CA351201512 | COL6A3 | c.301C>G c.7038C>G (p.Ile2346Met) c.7656C>G (p.Ile2552Met) c.5832C>G (p.Ile1944Met) c.5835C>G (p.Ile1945Met) n.1910C>G c.7056C>G (p.Ile2352Met) c.6435C>G (p.Ile2145Met) c.7155C>G (p.Ile2385Met) c.7653C>G (p.Ile2551Met) c.5250C>G (p.Ile1750Met) | gnomAD v4 |
2 | g.237344362G>T | CA431710100 | COL6A3 | c.301C>A c.7038C>A (p.Ile2346=) c.7656C>A (p.Ile2552=) c.5832C>A (p.Ile1944=) c.5835C>A (p.Ile1945=) n.1910C>A c.7056C>A (p.Ile2352=) c.6435C>A (p.Ile2145=) c.7155C>A (p.Ile2385=) c.7653C>A (p.Ile2551=) c.5250C>A (p.Ile1750=) | |
2 | g.237344363A= | CA1337610838 | COL6A3 | c.300T= c.7037T= (p.Ile2346=) c.7655T= (p.Ile2552=) c.5831T= (p.Ile1944=) c.5834T= (p.Ile1945=) n.1909T= c.7055T= (p.Ile2352=) c.6434T= (p.Ile2145=) c.7154T= (p.Ile2385=) c.7652T= (p.Ile2551=) c.5249T= (p.Ile1750=) | |
2 | g.237344363A>C | CA351201518 | COL6A3 | c.300T>G c.7037T>G (p.Ile2346Ser) c.7655T>G (p.Ile2552Ser) c.5831T>G (p.Ile1944Ser) c.5834T>G (p.Ile1945Ser) n.1909T>G c.7055T>G (p.Ile2352Ser) c.6434T>G (p.Ile2145Ser) c.7154T>G (p.Ile2385Ser) c.7652T>G (p.Ile2551Ser) c.5249T>G (p.Ile1750Ser) | |
2 | g.237344363A>G | CA351201520 | COL6A3 | c.300T>C c.7037T>C (p.Ile2346Thr) c.7655T>C (p.Ile2552Thr) c.5831T>C (p.Ile1944Thr) c.5834T>C (p.Ile1945Thr) n.1909T>C c.7055T>C (p.Ile2352Thr) c.6434T>C (p.Ile2145Thr) c.7154T>C (p.Ile2385Thr) c.7652T>C (p.Ile2551Thr) c.5249T>C (p.Ile1750Thr) | |
2 | g.237344363A>T | CA2187754 | COL6A3 | c.300T>A c.7037T>A (p.Ile2346Asn) c.7655T>A (p.Ile2552Asn) c.5831T>A (p.Ile1944Asn) c.5834T>A (p.Ile1945Asn) n.1909T>A c.7055T>A (p.Ile2352Asn) c.6434T>A (p.Ile2145Asn) c.7154T>A (p.Ile2385Asn) c.7652T>A (p.Ile2551Asn) c.5249T>A (p.Ile1750Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237344364T>A | CA351201528 | COL6A3 | c.299A>T c.7036A>T (p.Ile2346Phe) c.7654A>T (p.Ile2552Phe) c.5830A>T (p.Ile1944Phe) c.5833A>T (p.Ile1945Phe) n.1908A>T c.7054A>T (p.Ile2352Phe) c.6433A>T (p.Ile2145Phe) c.7153A>T (p.Ile2385Phe) c.7651A>T (p.Ile2551Phe) c.5248A>T (p.Ile1750Phe) | |
2 | g.237344364T>C | CA351201529 | COL6A3 | c.299A>G c.7036A>G (p.Ile2346Val) c.7654A>G (p.Ile2552Val) c.5830A>G (p.Ile1944Val) c.5833A>G (p.Ile1945Val) n.1908A>G c.7054A>G (p.Ile2352Val) c.6433A>G (p.Ile2145Val) c.7153A>G (p.Ile2385Val) c.7651A>G (p.Ile2551Val) c.5248A>G (p.Ile1750Val) | dbSNP |
2 | g.237344364T>G | CA351201532 | COL6A3 | c.299A>C c.7036A>C (p.Ile2346Leu) c.7654A>C (p.Ile2552Leu) c.5830A>C (p.Ile1944Leu) c.5833A>C (p.Ile1945Leu) n.1908A>C c.7054A>C (p.Ile2352Leu) c.6433A>C (p.Ile2145Leu) c.7153A>C (p.Ile2385Leu) c.7651A>C (p.Ile2551Leu) c.5248A>C (p.Ile1750Leu) | |
2 | g.237344364T= | CA1337610839 | COL6A3 | c.299A= c.7036A= (p.Ile2346=) c.7654A= (p.Ile2552=) c.5830A= (p.Ile1944=) c.5833A= (p.Ile1945=) n.1908A= c.7054A= (p.Ile2352=) c.6433A= (p.Ile2145=) c.7153A= (p.Ile2385=) c.7651A= (p.Ile2551=) c.5248A= (p.Ile1750=) | |
2 | g.237344365G>A | CA431710102 | COL6A3 | c.298C>T c.7035C>T (p.Leu2345=) c.7653C>T (p.Leu2551=) c.5829C>T (p.Leu1943=) c.5832C>T (p.Leu1944=) n.1907C>T c.7053C>T (p.Leu2351=) c.6432C>T (p.Leu2144=) c.7152C>T (p.Leu2384=) c.7650C>T (p.Leu2550=) c.5247C>T (p.Leu1749=) | |
2 | g.237344365G>C | CA431710103 | COL6A3 | c.298C>G c.7035C>G (p.Leu2345=) c.7653C>G (p.Leu2551=) c.5829C>G (p.Leu1943=) c.5832C>G (p.Leu1944=) n.1907C>G c.7053C>G (p.Leu2351=) c.6432C>G (p.Leu2144=) c.7152C>G (p.Leu2384=) c.7650C>G (p.Leu2550=) c.5247C>G (p.Leu1749=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237344365G= | CA1337610840 | COL6A3 | c.298C= c.7035C= (p.Leu2345=) c.7653C= (p.Leu2551=) c.5829C= (p.Leu1943=) c.5832C= (p.Leu1944=) n.1907C= c.7053C= (p.Leu2351=) c.6432C= (p.Leu2144=) c.7152C= (p.Leu2384=) c.7650C= (p.Leu2550=) c.5247C= (p.Leu1749=) | |
2 | g.237344365G>T | CA431710104 | COL6A3 | c.298C>A c.7035C>A (p.Leu2345=) c.7653C>A (p.Leu2551=) c.5829C>A (p.Leu1943=) c.5832C>A (p.Leu1944=) n.1907C>A c.7053C>A (p.Leu2351=) c.6432C>A (p.Leu2144=) c.7152C>A (p.Leu2384=) c.7650C>A (p.Leu2550=) c.5247C>A (p.Leu1749=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237344366A>C | CA351201535 | COL6A3 | c.297T>G c.7034T>G (p.Leu2345Arg) c.7652T>G (p.Leu2551Arg) c.5828T>G (p.Leu1943Arg) c.5831T>G (p.Leu1944Arg) n.1906T>G c.7052T>G (p.Leu2351Arg) c.6431T>G (p.Leu2144Arg) c.7151T>G (p.Leu2384Arg) c.7649T>G (p.Leu2550Arg) c.5246T>G (p.Leu1749Arg) | |
2 | g.237344366A>G | CA351201537 | COL6A3 | c.297T>C c.7034T>C (p.Leu2345Pro) c.7652T>C (p.Leu2551Pro) c.5828T>C (p.Leu1943Pro) c.5831T>C (p.Leu1944Pro) n.1906T>C c.7052T>C (p.Leu2351Pro) c.6431T>C (p.Leu2144Pro) c.7151T>C (p.Leu2384Pro) c.7649T>C (p.Leu2550Pro) c.5246T>C (p.Leu1749Pro) | |
2 | g.237344366A>T | CA351201539 | COL6A3 | c.297T>A c.7034T>A (p.Leu2345His) c.7652T>A (p.Leu2551His) c.5828T>A (p.Leu1943His) c.5831T>A (p.Leu1944His) n.1906T>A c.7052T>A (p.Leu2351His) c.6431T>A (p.Leu2144His) c.7151T>A (p.Leu2384His) c.7649T>A (p.Leu2550His) c.5246T>A (p.Leu1749His) | |
2 | g.237344366_237344367delinsAG | CA1337610841 | COL6A3 | c.296_297delinsCT c.7033_7034delinsCT (p.Leu2345=) c.7651_7652delinsCT (p.Leu2551=) c.5827_5828delinsCT (p.Leu1943=) c.5830_5831delinsCT (p.Leu1944=) n.1905_1906delinsCT c.7051_7052delinsCT (p.Leu2351=) c.6430_6431delinsCT (p.Leu2144=) c.7150_7151delinsCT (p.Leu2384=) c.7648_7649delinsCT (p.Leu2550=) c.5245_5246delinsCT (p.Leu1749=) | |
2 | g.237344367del | CA2187755 | COL6A3 | c.296del c.7033del (p.Leu2345SerfsTer?) c.7651del (p.Leu2551SerfsTer?) c.5827del (p.Leu1943SerfsTer?) c.5830del (p.Leu1944SerfsTer?) n.1905del c.7051del (p.Leu2351SerfsTer?) c.6430del (p.Leu2144SerfsTer?) c.7150del (p.Leu2384SerfsTer?) c.7648del (p.Leu2550SerfsTer?) c.5245del (p.Leu1749SerfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237344367G>A | CA351201541 | COL6A3 | c.296C>T c.7033C>T (p.Leu2345Phe) c.7651C>T (p.Leu2551Phe) c.5827C>T (p.Leu1943Phe) c.5830C>T (p.Leu1944Phe) n.1905C>T c.7051C>T (p.Leu2351Phe) c.6430C>T (p.Leu2144Phe) c.7150C>T (p.Leu2384Phe) c.7648C>T (p.Leu2550Phe) c.5245C>T (p.Leu1749Phe) | |
2 | g.237344367G>C | CA351201542 | COL6A3 | c.296C>G c.7033C>G (p.Leu2345Val) c.7651C>G (p.Leu2551Val) c.5827C>G (p.Leu1943Val) c.5830C>G (p.Leu1944Val) n.1905C>G c.7051C>G (p.Leu2351Val) c.6430C>G (p.Leu2144Val) c.7150C>G (p.Leu2384Val) c.7648C>G (p.Leu2550Val) c.5245C>G (p.Leu1749Val) | dbSNP |
2 | g.237344367G= | CA1337610842 | COL6A3 | c.296C= c.7033C= (p.Leu2345=) c.7651C= (p.Leu2551=) c.5827C= (p.Leu1943=) c.5830C= (p.Leu1944=) n.1905C= c.7051C= (p.Leu2351=) c.6430C= (p.Leu2144=) c.7150C= (p.Leu2384=) c.7648C= (p.Leu2550=) c.5245C= (p.Leu1749=) | |
2 | g.237344367G>T | CA351201543 | COL6A3 | c.296C>A c.7033C>A (p.Leu2345Ile) c.7651C>A (p.Leu2551Ile) c.5827C>A (p.Leu1943Ile) c.5830C>A (p.Leu1944Ile) n.1905C>A c.7051C>A (p.Leu2351Ile) c.6430C>A (p.Leu2144Ile) c.7150C>A (p.Leu2384Ile) c.7648C>A (p.Leu2550Ile) c.5245C>A (p.Leu1749Ile) | |
2 | g.237344368C>A | CA351201545 | COL6A3 | c.295G>T c.7032G>T (p.Gln2344His) c.7650G>T (p.Gln2550His) c.5826G>T (p.Gln1942His) c.5829G>T (p.Gln1943His) n.1904G>T c.7050G>T (p.Gln2350His) c.6429G>T (p.Gln2143His) c.7149G>T (p.Gln2383His) c.7647G>T (p.Gln2549His) c.5244G>T (p.Gln1748His) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237344368C= | CA1337610843 | COL6A3 | c.295G= c.7032G= (p.Gln2344=) c.7650G= (p.Gln2550=) c.5826G= (p.Gln1942=) c.5829G= (p.Gln1943=) n.1904G= c.7050G= (p.Gln2350=) c.6429G= (p.Gln2143=) c.7149G= (p.Gln2383=) c.7647G= (p.Gln2549=) c.5244G= (p.Gln1748=) | |
2 | g.237344368C>G | CA351201547 | COL6A3 | c.295G>C c.7032G>C (p.Gln2344His) c.7650G>C (p.Gln2550His) c.5826G>C (p.Gln1942His) c.5829G>C (p.Gln1943His) n.1904G>C c.7050G>C (p.Gln2350His) c.6429G>C (p.Gln2143His) c.7149G>C (p.Gln2383His) c.7647G>C (p.Gln2549His) c.5244G>C (p.Gln1748His) | |
2 | g.237344368C>T | CA431710105 | COL6A3 | c.295G>A c.7032G>A (p.Gln2344=) c.7650G>A (p.Gln2550=) c.5826G>A (p.Gln1942=) c.5829G>A (p.Gln1943=) n.1904G>A c.7050G>A (p.Gln2350=) c.6429G>A (p.Gln2143=) c.7149G>A (p.Gln2383=) c.7647G>A (p.Gln2549=) c.5244G>A (p.Gln1748=) | ClinVar gnomAD v4 |
2 | g.237344373_237344384del | CA2663794512 | COL6A3 | c.284_295del c.7021_7032del (p.Glu2341_Gln2344del) c.7639_7650del (p.Glu2547_Gln2550del) c.5815_5826del (p.Glu1939_Gln1942del) c.5818_5829del (p.Glu1940_Gln1943del) n.1893_1904del c.7039_7050del (p.Glu2347_Gln2350del) c.6418_6429del (p.Glu2140_Gln2143del) c.7138_7149del (p.Glu2380_Gln2383del) c.7636_7647del (p.Glu2546_Gln2549del) c.5233_5244del (p.Glu1745_Gln1748del) | gnomAD v4 |
2 | g.237344369T>A | CA351201550 | COL6A3 | c.294A>T c.7031A>T (p.Gln2344Leu) c.7649A>T (p.Gln2550Leu) c.5825A>T (p.Gln1942Leu) c.5828A>T (p.Gln1943Leu) n.1903A>T c.7049A>T (p.Gln2350Leu) c.6428A>T (p.Gln2143Leu) c.7148A>T (p.Gln2383Leu) c.7646A>T (p.Gln2549Leu) c.5243A>T (p.Gln1748Leu) | |
2 | g.237344369T>C | CA351201553 | COL6A3 | c.294A>G c.7031A>G (p.Gln2344Arg) c.7649A>G (p.Gln2550Arg) c.5825A>G (p.Gln1942Arg) c.5828A>G (p.Gln1943Arg) n.1903A>G c.7049A>G (p.Gln2350Arg) c.6428A>G (p.Gln2143Arg) c.7148A>G (p.Gln2383Arg) c.7646A>G (p.Gln2549Arg) c.5243A>G (p.Gln1748Arg) | |
2 | g.237344369T>G | CA10613193 | COL6A3 | c.294A>C c.7031A>C (p.Gln2344Pro) c.7649A>C (p.Gln2550Pro) c.5825A>C (p.Gln1942Pro) c.5828A>C (p.Gln1943Pro) n.1903A>C c.7049A>C (p.Gln2350Pro) c.6428A>C (p.Gln2143Pro) c.7148A>C (p.Gln2383Pro) c.7646A>C (p.Gln2549Pro) c.5243A>C (p.Gln1748Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.237344369T= | CA1337610844 | COL6A3 | c.294A= c.7031A= (p.Gln2344=) c.7649A= (p.Gln2550=) c.5825A= (p.Gln1942=) c.5828A= (p.Gln1943=) n.1903A= c.7049A= (p.Gln2350=) c.6428A= (p.Gln2143=) c.7148A= (p.Gln2383=) c.7646A= (p.Gln2549=) c.5243A= (p.Gln1748=) | |
2 | g.237344370G>A | CA351201560 | COL6A3 | c.293C>T c.7030C>T (p.Gln2344Ter) c.7648C>T (p.Gln2550Ter) c.5824C>T (p.Gln1942Ter) c.5827C>T (p.Gln1943Ter) n.1902C>T c.7048C>T (p.Gln2350Ter) c.6427C>T (p.Gln2143Ter) c.7147C>T (p.Gln2383Ter) c.7645C>T (p.Gln2549Ter) c.5242C>T (p.Gln1748Ter) | ClinVar dbSNP COSMIC |
2 | g.237344370G>C | CA351201562 | COL6A3 | c.293C>G c.7030C>G (p.Gln2344Glu) c.7648C>G (p.Gln2550Glu) c.5824C>G (p.Gln1942Glu) c.5827C>G (p.Gln1943Glu) n.1902C>G c.7048C>G (p.Gln2350Glu) c.6427C>G (p.Gln2143Glu) c.7147C>G (p.Gln2383Glu) c.7645C>G (p.Gln2549Glu) c.5242C>G (p.Gln1748Glu) | gnomAD v4 |
2 | g.237344370G>T | CA351201569 | COL6A3 | c.293C>A c.7030C>A (p.Gln2344Lys) c.7648C>A (p.Gln2550Lys) c.5824C>A (p.Gln1942Lys) c.5827C>A (p.Gln1943Lys) n.1902C>A c.7048C>A (p.Gln2350Lys) c.6427C>A (p.Gln2143Lys) c.7147C>A (p.Gln2383Lys) c.7645C>A (p.Gln2549Lys) c.5242C>A (p.Gln1748Lys) | |
2 | g.237344371C>A | CA431710107 | COL6A3 | c.292G>T c.7029G>T (p.Arg2343=) c.7647G>T (p.Arg2549=) c.5823G>T (p.Arg1941=) c.5826G>T (p.Arg1942=) n.1901G>T c.7047G>T (p.Arg2349=) c.6426G>T (p.Arg2142=) c.7146G>T (p.Arg2382=) c.7644G>T (p.Arg2548=) c.5241G>T (p.Arg1747=) | |
2 | g.237344371C= | CA1337610845 | COL6A3 | c.292G= c.7029G= (p.Arg2343=) c.7647G= (p.Arg2549=) c.5823G= (p.Arg1941=) c.5826G= (p.Arg1942=) n.1901G= c.7047G= (p.Arg2349=) c.6426G= (p.Arg2142=) c.7146G= (p.Arg2382=) c.7644G= (p.Arg2548=) c.5241G= (p.Arg1747=) | |
2 | g.237344371C>G | CA431710106 | COL6A3 | c.292G>C c.7029G>C (p.Arg2343=) c.7647G>C (p.Arg2549=) c.5823G>C (p.Arg1941=) c.5826G>C (p.Arg1942=) n.1901G>C c.7047G>C (p.Arg2349=) c.6426G>C (p.Arg2142=) c.7146G>C (p.Arg2382=) c.7644G>C (p.Arg2548=) c.5241G>C (p.Arg1747=) | |
2 | g.237344371C>T | CA2187756 | COL6A3 | c.292G>A c.7029G>A (p.Arg2343=) c.7647G>A (p.Arg2549=) c.5823G>A (p.Arg1941=) c.5826G>A (p.Arg1942=) n.1901G>A c.7047G>A (p.Arg2349=) c.6426G>A (p.Arg2142=) c.7146G>A (p.Arg2382=) c.7644G>A (p.Arg2548=) c.5241G>A (p.Arg1747=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237344372C>A | CA351201573 | COL6A3 | c.291G>T c.7028G>T (p.Arg2343Leu) c.7646G>T (p.Arg2549Leu) c.5822G>T (p.Arg1941Leu) c.5825G>T (p.Arg1942Leu) n.1900G>T c.7046G>T (p.Arg2349Leu) c.6425G>T (p.Arg2142Leu) c.7145G>T (p.Arg2382Leu) c.7643G>T (p.Arg2548Leu) c.5240G>T (p.Arg1747Leu) | |
2 | g.237344372C= | CA1337610846 | COL6A3 | c.291G= c.7028G= (p.Arg2343=) c.7646G= (p.Arg2549=) c.5822G= (p.Arg1941=) c.5825G= (p.Arg1942=) n.1900G= c.7046G= (p.Arg2349=) c.6425G= (p.Arg2142=) c.7145G= (p.Arg2382=) c.7643G= (p.Arg2548=) c.5240G= (p.Arg1747=) | |
2 | g.237344372C>G | CA351201576 | COL6A3 | c.291G>C c.7028G>C (p.Arg2343Pro) c.7646G>C (p.Arg2549Pro) c.5822G>C (p.Arg1941Pro) c.5825G>C (p.Arg1942Pro) n.1900G>C c.7046G>C (p.Arg2349Pro) c.6425G>C (p.Arg2142Pro) c.7145G>C (p.Arg2382Pro) c.7643G>C (p.Arg2548Pro) c.5240G>C (p.Arg1747Pro) | |
2 | g.237344372C>T | CA2187757 | COL6A3 | c.291G>A c.7028G>A (p.Arg2343Gln) c.7646G>A (p.Arg2549Gln) c.5822G>A (p.Arg1941Gln) c.5825G>A (p.Arg1942Gln) n.1900G>A c.7046G>A (p.Arg2349Gln) c.6425G>A (p.Arg2142Gln) c.7145G>A (p.Arg2382Gln) c.7643G>A (p.Arg2548Gln) c.5240G>A (p.Arg1747Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237344373G>A | CA148039 | COL6A3 | c.290C>T c.7027C>T (p.Arg2343Trp) c.7645C>T (p.Arg2549Trp) c.5821C>T (p.Arg1941Trp) c.5824C>T (p.Arg1942Trp) n.1899C>T c.7045C>T (p.Arg2349Trp) c.6424C>T (p.Arg2142Trp) c.7144C>T (p.Arg2382Trp) c.7642C>T (p.Arg2548Trp) c.5239C>T (p.Arg1747Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237344373G>C | CA351201580 | COL6A3 | c.290C>G c.7027C>G (p.Arg2343Gly) c.7645C>G (p.Arg2549Gly) c.5821C>G (p.Arg1941Gly) c.5824C>G (p.Arg1942Gly) n.1899C>G c.7045C>G (p.Arg2349Gly) c.6424C>G (p.Arg2142Gly) c.7144C>G (p.Arg2382Gly) c.7642C>G (p.Arg2548Gly) c.5239C>G (p.Arg1747Gly) | |
2 | g.237344373G= | CA1337610847 | COL6A3 | c.290C= c.7027C= (p.Arg2343=) c.7645C= (p.Arg2549=) c.5821C= (p.Arg1941=) c.5824C= (p.Arg1942=) n.1899C= c.7045C= (p.Arg2349=) c.6424C= (p.Arg2142=) c.7144C= (p.Arg2382=) c.7642C= (p.Arg2548=) c.5239C= (p.Arg1747=) | |
2 | g.237344373G>T | CA2187758 | COL6A3 | c.290C>A c.7027C>A (p.Arg2343=) c.7645C>A (p.Arg2549=) c.5821C>A (p.Arg1941=) c.5824C>A (p.Arg1942=) n.1899C>A c.7045C>A (p.Arg2349=) c.6424C>A (p.Arg2142=) c.7144C>A (p.Arg2382=) c.7642C>A (p.Arg2548=) c.5239C>A (p.Arg1747=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237344374G>A | CA431710108 | COL6A3 | c.289C>T c.7026C>T (p.Asp2342=) c.7644C>T (p.Asp2548=) c.5820C>T (p.Asp1940=) c.5823C>T (p.Asp1941=) n.1898C>T c.7044C>T (p.Asp2348=) c.6423C>T (p.Asp2141=) c.7143C>T (p.Asp2381=) c.7641C>T (p.Asp2547=) c.5238C>T (p.Asp1746=) | |
2 | g.237344374G>C | CA351201589 | COL6A3 | c.289C>G c.7026C>G (p.Asp2342Glu) c.7644C>G (p.Asp2548Glu) c.5820C>G (p.Asp1940Glu) c.5823C>G (p.Asp1941Glu) n.1898C>G c.7044C>G (p.Asp2348Glu) c.6423C>G (p.Asp2141Glu) c.7143C>G (p.Asp2381Glu) c.7641C>G (p.Asp2547Glu) c.5238C>G (p.Asp1746Glu) | |
2 | g.237344374G>T | CA351201592 | COL6A3 | c.289C>A c.7026C>A (p.Asp2342Glu) c.7644C>A (p.Asp2548Glu) c.5820C>A (p.Asp1940Glu) c.5823C>A (p.Asp1941Glu) n.1898C>A c.7044C>A (p.Asp2348Glu) c.6423C>A (p.Asp2141Glu) c.7143C>A (p.Asp2381Glu) c.7641C>A (p.Asp2547Glu) c.5238C>A (p.Asp1746Glu) | |
2 | g.237344375T>A | CA351201596 | COL6A3 | c.288A>T c.7025A>T (p.Asp2342Val) c.7643A>T (p.Asp2548Val) c.5819A>T (p.Asp1940Val) c.5822A>T (p.Asp1941Val) n.1897A>T c.7043A>T (p.Asp2348Val) c.6422A>T (p.Asp2141Val) c.7142A>T (p.Asp2381Val) c.7640A>T (p.Asp2547Val) c.5237A>T (p.Asp1746Val) | |
2 | g.237344375T>C | CA351201605 | COL6A3 | c.288A>G c.7025A>G (p.Asp2342Gly) c.7643A>G (p.Asp2548Gly) c.5819A>G (p.Asp1940Gly) c.5822A>G (p.Asp1941Gly) n.1897A>G c.7043A>G (p.Asp2348Gly) c.6422A>G (p.Asp2141Gly) c.7142A>G (p.Asp2381Gly) c.7640A>G (p.Asp2547Gly) c.5237A>G (p.Asp1746Gly) | |
2 | g.237344375T>G | CA351201598 | COL6A3 | c.288A>C c.7025A>C (p.Asp2342Ala) c.7643A>C (p.Asp2548Ala) c.5819A>C (p.Asp1940Ala) c.5822A>C (p.Asp1941Ala) n.1897A>C c.7043A>C (p.Asp2348Ala) c.6422A>C (p.Asp2141Ala) c.7142A>C (p.Asp2381Ala) c.7640A>C (p.Asp2547Ala) c.5237A>C (p.Asp1746Ala) | |
2 | g.237344376C>A | CA351201608 | COL6A3 | c.287G>T c.7024G>T (p.Asp2342Tyr) c.7642G>T (p.Asp2548Tyr) c.5818G>T (p.Asp1940Tyr) c.5821G>T (p.Asp1941Tyr) n.1896G>T c.7042G>T (p.Asp2348Tyr) c.6421G>T (p.Asp2141Tyr) c.7141G>T (p.Asp2381Tyr) c.7639G>T (p.Asp2547Tyr) c.5236G>T (p.Asp1746Tyr) | |
2 | g.237344376C= | CA1337610848 | COL6A3 | c.287G= c.7024G= (p.Asp2342=) c.7642G= (p.Asp2548=) c.5818G= (p.Asp1940=) c.5821G= (p.Asp1941=) n.1896G= c.7042G= (p.Asp2348=) c.6421G= (p.Asp2141=) c.7141G= (p.Asp2381=) c.7639G= (p.Asp2547=) c.5236G= (p.Asp1746=) | |
2 | g.237344376C>G | CA351201611 | COL6A3 | c.287G>C c.7024G>C (p.Asp2342His) c.7642G>C (p.Asp2548His) c.5818G>C (p.Asp1940His) c.5821G>C (p.Asp1941His) n.1896G>C c.7042G>C (p.Asp2348His) c.6421G>C (p.Asp2141His) c.7141G>C (p.Asp2381His) c.7639G>C (p.Asp2547His) c.5236G>C (p.Asp1746His) | |
2 | g.237344376C>T | CA2187759 | COL6A3 | c.287G>A c.7024G>A (p.Asp2342Asn) c.7642G>A (p.Asp2548Asn) c.5818G>A (p.Asp1940Asn) c.5821G>A (p.Asp1941Asn) n.1896G>A c.7042G>A (p.Asp2348Asn) c.6421G>A (p.Asp2141Asn) c.7141G>A (p.Asp2381Asn) c.7639G>A (p.Asp2547Asn) c.5236G>A (p.Asp1746Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237344377T>A | CA351201626 | COL6A3 | c.286A>T c.7023A>T (p.Glu2341Asp) c.7641A>T (p.Glu2547Asp) c.5817A>T (p.Glu1939Asp) c.5820A>T (p.Glu1940Asp) n.1895A>T c.7041A>T (p.Glu2347Asp) c.6420A>T (p.Glu2140Asp) c.7140A>T (p.Glu2380Asp) c.7638A>T (p.Glu2546Asp) c.5235A>T (p.Glu1745Asp) | |
2 | g.237344377T>C | CA431710109 | COL6A3 | c.286A>G c.7023A>G (p.Glu2341=) c.7641A>G (p.Glu2547=) c.5817A>G (p.Glu1939=) c.5820A>G (p.Glu1940=) n.1895A>G c.7041A>G (p.Glu2347=) c.6420A>G (p.Glu2140=) c.7140A>G (p.Glu2380=) c.7638A>G (p.Glu2546=) c.5235A>G (p.Glu1745=) | |
2 | g.237344377T>G | CA351201629 | COL6A3 | c.286A>C c.7023A>C (p.Glu2341Asp) c.7641A>C (p.Glu2547Asp) c.5817A>C (p.Glu1939Asp) c.5820A>C (p.Glu1940Asp) n.1895A>C c.7041A>C (p.Glu2347Asp) c.6420A>C (p.Glu2140Asp) c.7140A>C (p.Glu2380Asp) c.7638A>C (p.Glu2546Asp) c.5235A>C (p.Glu1745Asp) | |
2 | g.237344377_237344388del | CA2663794514 | COL6A3 | c.275_286del c.7012_7023del (p.Thr2338_Glu2341del) c.7630_7641del (p.Thr2544_Glu2547del) c.5806_5817del (p.Thr1936_Glu1939del) c.5809_5820del (p.Thr1937_Glu1940del) n.1884_1895del c.7030_7041del (p.Thr2344_Glu2347del) c.6409_6420del (p.Thr2137_Glu2140del) c.7129_7140del (p.Thr2377_Glu2380del) c.7627_7638del (p.Thr2543_Glu2546del) c.5224_5235del (p.Thr1742_Glu1745del) | gnomAD v4 |
2 | g.237344378T>A | CA351201630 | COL6A3 | c.285A>T c.7022A>T (p.Glu2341Val) c.7640A>T (p.Glu2547Val) c.5816A>T (p.Glu1939Val) c.5819A>T (p.Glu1940Val) n.1894A>T c.7040A>T (p.Glu2347Val) c.6419A>T (p.Glu2140Val) c.7139A>T (p.Glu2380Val) c.7637A>T (p.Glu2546Val) c.5234A>T (p.Glu1745Val) | |
2 | g.237344378T>C | CA351201636 | COL6A3 | c.285A>G c.7022A>G (p.Glu2341Gly) c.7640A>G (p.Glu2547Gly) c.5816A>G (p.Glu1939Gly) c.5819A>G (p.Glu1940Gly) n.1894A>G c.7040A>G (p.Glu2347Gly) c.6419A>G (p.Glu2140Gly) c.7139A>G (p.Glu2380Gly) c.7637A>G (p.Glu2546Gly) c.5234A>G (p.Glu1745Gly) | |
2 | g.237344378T>G | CA351201639 | COL6A3 | c.285A>C c.7022A>C (p.Glu2341Ala) c.7640A>C (p.Glu2547Ala) c.5816A>C (p.Glu1939Ala) c.5819A>C (p.Glu1940Ala) n.1894A>C c.7040A>C (p.Glu2347Ala) c.6419A>C (p.Glu2140Ala) c.7139A>C (p.Glu2380Ala) c.7637A>C (p.Glu2546Ala) c.5234A>C (p.Glu1745Ala) | |
2 | g.237344379C>A | CA351201642 | COL6A3 | c.284G>T c.7021G>T (p.Glu2341Ter) c.7639G>T (p.Glu2547Ter) c.5815G>T (p.Glu1939Ter) c.5818G>T (p.Glu1940Ter) n.1893G>T c.7039G>T (p.Glu2347Ter) c.6418G>T (p.Glu2140Ter) c.7138G>T (p.Glu2380Ter) c.7636G>T (p.Glu2546Ter) c.5233G>T (p.Glu1745Ter) | |
2 | g.237344379C>G | CA351201643 | COL6A3 | c.284G>C c.7021G>C (p.Glu2341Gln) c.7639G>C (p.Glu2547Gln) c.5815G>C (p.Glu1939Gln) c.5818G>C (p.Glu1940Gln) n.1893G>C c.7039G>C (p.Glu2347Gln) c.6418G>C (p.Glu2140Gln) c.7138G>C (p.Glu2380Gln) c.7636G>C (p.Glu2546Gln) c.5233G>C (p.Glu1745Gln) | |
2 | g.237344379C>T | CA351201646 | COL6A3 | c.284G>A c.7021G>A (p.Glu2341Lys) c.7639G>A (p.Glu2547Lys) c.5815G>A (p.Glu1939Lys) c.5818G>A (p.Glu1940Lys) n.1893G>A c.7039G>A (p.Glu2347Lys) c.6418G>A (p.Glu2140Lys) c.7138G>A (p.Glu2380Lys) c.7636G>A (p.Glu2546Lys) c.5233G>A (p.Glu1745Lys) | |
2 | g.237344380C>A | CA351201648 | COL6A3 | c.283G>T c.7020G>T (p.Gln2340His) c.7638G>T (p.Gln2546His) c.5814G>T (p.Gln1938His) c.5817G>T (p.Gln1939His) n.1892G>T c.7038G>T (p.Gln2346His) c.6417G>T (p.Gln2139His) c.7137G>T (p.Gln2379His) c.7635G>T (p.Gln2545His) c.5232G>T (p.Gln1744His) | |
2 | g.237344380C= | CA1337610849 | COL6A3 | c.283G= c.7020G= (p.Gln2340=) c.7638G= (p.Gln2546=) c.5814G= (p.Gln1938=) c.5817G= (p.Gln1939=) n.1892G= c.7038G= (p.Gln2346=) c.6417G= (p.Gln2139=) c.7137G= (p.Gln2379=) c.7635G= (p.Gln2545=) c.5232G= (p.Gln1744=) | |
2 | g.237344380C>G | CA351201650 | COL6A3 | c.283G>C c.7020G>C (p.Gln2340His) c.7638G>C (p.Gln2546His) c.5814G>C (p.Gln1938His) c.5817G>C (p.Gln1939His) n.1892G>C c.7038G>C (p.Gln2346His) c.6417G>C (p.Gln2139His) c.7137G>C (p.Gln2379His) c.7635G>C (p.Gln2545His) c.5232G>C (p.Gln1744His) | gnomAD v4 |
2 | g.237344380C>T | CA431710110 | COL6A3 | c.283G>A c.7020G>A (p.Gln2340=) c.7638G>A (p.Gln2546=) c.5814G>A (p.Gln1938=) c.5817G>A (p.Gln1939=) n.1892G>A c.7038G>A (p.Gln2346=) c.6417G>A (p.Gln2139=) c.7137G>A (p.Gln2379=) c.7635G>A (p.Gln2545=) c.5232G>A (p.Gln1744=) | dbSNP |
2 | g.237344381T>A | CA351201657 | COL6A3 | c.282A>T c.7019A>T (p.Gln2340Leu) c.7637A>T (p.Gln2546Leu) c.5813A>T (p.Gln1938Leu) c.5816A>T (p.Gln1939Leu) n.1891A>T c.7037A>T (p.Gln2346Leu) c.6416A>T (p.Gln2139Leu) c.7136A>T (p.Gln2379Leu) c.7634A>T (p.Gln2545Leu) c.5231A>T (p.Gln1744Leu) | |
2 | g.237344381T>C | CA351201655 | COL6A3 | c.282A>G c.7019A>G (p.Gln2340Arg) c.7637A>G (p.Gln2546Arg) c.5813A>G (p.Gln1938Arg) c.5816A>G (p.Gln1939Arg) n.1891A>G c.7037A>G (p.Gln2346Arg) c.6416A>G (p.Gln2139Arg) c.7136A>G (p.Gln2379Arg) c.7634A>G (p.Gln2545Arg) c.5231A>G (p.Gln1744Arg) | |
2 | g.237344381T>G | CA351201653 | COL6A3 | c.282A>C c.7019A>C (p.Gln2340Pro) c.7637A>C (p.Gln2546Pro) c.5813A>C (p.Gln1938Pro) c.5816A>C (p.Gln1939Pro) n.1891A>C c.7037A>C (p.Gln2346Pro) c.6416A>C (p.Gln2139Pro) c.7136A>C (p.Gln2379Pro) c.7634A>C (p.Gln2545Pro) c.5231A>C (p.Gln1744Pro) | gnomAD v4 |
2 | g.237344382G>A | CA351201661 | COL6A3 | c.281C>T c.7018C>T (p.Gln2340Ter) c.7636C>T (p.Gln2546Ter) c.5812C>T (p.Gln1938Ter) c.5815C>T (p.Gln1939Ter) n.1890C>T c.7036C>T (p.Gln2346Ter) c.6415C>T (p.Gln2139Ter) c.7135C>T (p.Gln2379Ter) c.7633C>T (p.Gln2545Ter) c.5230C>T (p.Gln1744Ter) | |
2 | g.237344382G>C | CA351201662 | COL6A3 | c.281C>G c.7018C>G (p.Gln2340Glu) c.7636C>G (p.Gln2546Glu) c.5812C>G (p.Gln1938Glu) c.5815C>G (p.Gln1939Glu) n.1890C>G c.7036C>G (p.Gln2346Glu) c.6415C>G (p.Gln2139Glu) c.7135C>G (p.Gln2379Glu) c.7633C>G (p.Gln2545Glu) c.5230C>G (p.Gln1744Glu) | |
2 | g.237344382G>T | CA351201665 | COL6A3 | c.281C>A c.7018C>A (p.Gln2340Lys) c.7636C>A (p.Gln2546Lys) c.5812C>A (p.Gln1938Lys) c.5815C>A (p.Gln1939Lys) n.1890C>A c.7036C>A (p.Gln2346Lys) c.6415C>A (p.Gln2139Lys) c.7135C>A (p.Gln2379Lys) c.7633C>A (p.Gln2545Lys) c.5230C>A (p.Gln1744Lys) | |
2 | g.237344383C>A | CA351201668 | COL6A3 | c.280G>T c.7017G>T (p.Arg2339Ser) c.7635G>T (p.Arg2545Ser) c.5811G>T (p.Arg1937Ser) c.5814G>T (p.Arg1938Ser) n.1889G>T c.7035G>T (p.Arg2345Ser) c.6414G>T (p.Arg2138Ser) c.7134G>T (p.Arg2378Ser) c.7632G>T (p.Arg2544Ser) c.5229G>T (p.Arg1743Ser) | COSMIC |
2 | g.237344383C>G | CA351201669 | COL6A3 | c.280G>C c.7017G>C (p.Arg2339Ser) c.7635G>C (p.Arg2545Ser) c.5811G>C (p.Arg1937Ser) c.5814G>C (p.Arg1938Ser) n.1889G>C c.7035G>C (p.Arg2345Ser) c.6414G>C (p.Arg2138Ser) c.7134G>C (p.Arg2378Ser) c.7632G>C (p.Arg2544Ser) c.5229G>C (p.Arg1743Ser) | |
2 | g.237344383C>T | CA431710111 | COL6A3 | c.280G>A c.7017G>A (p.Arg2339=) c.7635G>A (p.Arg2545=) c.5811G>A (p.Arg1937=) c.5814G>A (p.Arg1938=) n.1889G>A c.7035G>A (p.Arg2345=) c.6414G>A (p.Arg2138=) c.7134G>A (p.Arg2378=) c.7632G>A (p.Arg2544=) c.5229G>A (p.Arg1743=) | gnomAD v4 |
2 | g.237344384C>A | CA351201672 | COL6A3 | c.279G>T c.7016G>T (p.Arg2339Met) c.7634G>T (p.Arg2545Met) c.5810G>T (p.Arg1937Met) c.5813G>T (p.Arg1938Met) n.1888G>T c.7034G>T (p.Arg2345Met) c.6413G>T (p.Arg2138Met) c.7133G>T (p.Arg2378Met) c.7631G>T (p.Arg2544Met) c.5228G>T (p.Arg1743Met) | |
2 | g.237344384C>G | CA351201674 | COL6A3 | c.279G>C c.7016G>C (p.Arg2339Thr) c.7634G>C (p.Arg2545Thr) c.5810G>C (p.Arg1937Thr) c.5813G>C (p.Arg1938Thr) n.1888G>C c.7034G>C (p.Arg2345Thr) c.6413G>C (p.Arg2138Thr) c.7133G>C (p.Arg2378Thr) c.7631G>C (p.Arg2544Thr) c.5228G>C (p.Arg1743Thr) | |
2 | g.237344384C>T | CA351201676 | COL6A3 | c.279G>A c.7016G>A (p.Arg2339Lys) c.7634G>A (p.Arg2545Lys) c.5810G>A (p.Arg1937Lys) c.5813G>A (p.Arg1938Lys) n.1888G>A c.7034G>A (p.Arg2345Lys) c.6413G>A (p.Arg2138Lys) c.7133G>A (p.Arg2378Lys) c.7631G>A (p.Arg2544Lys) c.5228G>A (p.Arg1743Lys) | |
2 | g.237344385T>A | CA351201678 | COL6A3 | c.278A>T c.7015A>T (p.Arg2339Trp) c.7633A>T (p.Arg2545Trp) c.5809A>T (p.Arg1937Trp) c.5812A>T (p.Arg1938Trp) n.1887A>T c.7033A>T (p.Arg2345Trp) c.6412A>T (p.Arg2138Trp) c.7132A>T (p.Arg2378Trp) c.7630A>T (p.Arg2544Trp) c.5227A>T (p.Arg1743Trp) | |
2 | g.237344385T>C | CA351201681 | COL6A3 | c.278A>G c.7015A>G (p.Arg2339Gly) c.7633A>G (p.Arg2545Gly) c.5809A>G (p.Arg1937Gly) c.5812A>G (p.Arg1938Gly) n.1887A>G c.7033A>G (p.Arg2345Gly) c.6412A>G (p.Arg2138Gly) c.7132A>G (p.Arg2378Gly) c.7630A>G (p.Arg2544Gly) c.5227A>G (p.Arg1743Gly) | gnomAD v4 |
2 | g.237344385T>G | CA431710112 | COL6A3 | c.278A>C c.7015A>C (p.Arg2339=) c.7633A>C (p.Arg2545=) c.5809A>C (p.Arg1937=) c.5812A>C (p.Arg1938=) n.1887A>C c.7033A>C (p.Arg2345=) c.6412A>C (p.Arg2138=) c.7132A>C (p.Arg2378=) c.7630A>C (p.Arg2544=) c.5227A>C (p.Arg1743=) | |
2 | g.237344386T>A | CA431710113 | COL6A3 | c.277A>T c.7014A>T (p.Thr2338=) c.7632A>T (p.Thr2544=) c.5808A>T (p.Thr1936=) c.5811A>T (p.Thr1937=) n.1886A>T c.7032A>T (p.Thr2344=) c.6411A>T (p.Thr2137=) c.7131A>T (p.Thr2377=) c.7629A>T (p.Thr2543=) c.5226A>T (p.Thr1742=) | |
2 | g.237344386T>C | CA431710114 | COL6A3 | c.277A>G c.7014A>G (p.Thr2338=) c.7632A>G (p.Thr2544=) c.5808A>G (p.Thr1936=) c.5811A>G (p.Thr1937=) n.1886A>G c.7032A>G (p.Thr2344=) c.6411A>G (p.Thr2137=) c.7131A>G (p.Thr2377=) c.7629A>G (p.Thr2543=) c.5226A>G (p.Thr1742=) | |
2 | g.237344386T>G | CA431710115 | COL6A3 | c.277A>C c.7014A>C (p.Thr2338=) c.7632A>C (p.Thr2544=) c.5808A>C (p.Thr1936=) c.5811A>C (p.Thr1937=) n.1886A>C c.7032A>C (p.Thr2344=) c.6411A>C (p.Thr2137=) c.7131A>C (p.Thr2377=) c.7629A>C (p.Thr2543=) c.5226A>C (p.Thr1742=) | |
2 | g.237344387G>A | CA351201684 | COL6A3 | c.276C>T c.7013C>T (p.Thr2338Ile) c.7631C>T (p.Thr2544Ile) c.5807C>T (p.Thr1936Ile) c.5810C>T (p.Thr1937Ile) n.1885C>T c.7031C>T (p.Thr2344Ile) c.6410C>T (p.Thr2137Ile) c.7130C>T (p.Thr2377Ile) c.7628C>T (p.Thr2543Ile) c.5225C>T (p.Thr1742Ile) | dbSNP gnomAD v4 |
2 | g.237344387G>C | CA351201686 | COL6A3 | c.276C>G c.7013C>G (p.Thr2338Arg) c.7631C>G (p.Thr2544Arg) c.5807C>G (p.Thr1936Arg) c.5810C>G (p.Thr1937Arg) n.1885C>G c.7031C>G (p.Thr2344Arg) c.6410C>G (p.Thr2137Arg) c.7130C>G (p.Thr2377Arg) c.7628C>G (p.Thr2543Arg) c.5225C>G (p.Thr1742Arg) | |
2 | g.237344387G= | CA1337610850 | COL6A3 | c.276C= c.7013C= (p.Thr2338=) c.7631C= (p.Thr2544=) c.5807C= (p.Thr1936=) c.5810C= (p.Thr1937=) n.1885C= c.7031C= (p.Thr2344=) c.6410C= (p.Thr2137=) c.7130C= (p.Thr2377=) c.7628C= (p.Thr2543=) c.5225C= (p.Thr1742=) | |
2 | g.237344387G>T | CA351201691 | COL6A3 | c.276C>A c.7013C>A (p.Thr2338Lys) c.7631C>A (p.Thr2544Lys) c.5807C>A (p.Thr1936Lys) c.5810C>A (p.Thr1937Lys) n.1885C>A c.7031C>A (p.Thr2344Lys) c.6410C>A (p.Thr2137Lys) c.7130C>A (p.Thr2377Lys) c.7628C>A (p.Thr2543Lys) c.5225C>A (p.Thr1742Lys) | gnomAD v4 |
2 | g.237344388T>A | CA351201695 | COL6A3 | c.275A>T c.7012A>T (p.Thr2338Ser) c.7630A>T (p.Thr2544Ser) c.5806A>T (p.Thr1936Ser) c.5809A>T (p.Thr1937Ser) n.1884A>T c.7030A>T (p.Thr2344Ser) c.6409A>T (p.Thr2137Ser) c.7129A>T (p.Thr2377Ser) c.7627A>T (p.Thr2543Ser) c.5224A>T (p.Thr1742Ser) | |
2 | g.237344388T>C | CA351201696 | COL6A3 | c.275A>G c.7012A>G (p.Thr2338Ala) c.7630A>G (p.Thr2544Ala) c.5806A>G (p.Thr1936Ala) c.5809A>G (p.Thr1937Ala) n.1884A>G c.7030A>G (p.Thr2344Ala) c.6409A>G (p.Thr2137Ala) c.7129A>G (p.Thr2377Ala) c.7627A>G (p.Thr2543Ala) c.5224A>G (p.Thr1742Ala) | |
2 | g.237344388T>G | CA351201693 | COL6A3 | c.275A>C c.7012A>C (p.Thr2338Pro) c.7630A>C (p.Thr2544Pro) c.5806A>C (p.Thr1936Pro) c.5809A>C (p.Thr1937Pro) n.1884A>C c.7030A>C (p.Thr2344Pro) c.6409A>C (p.Thr2137Pro) c.7129A>C (p.Thr2377Pro) c.7627A>C (p.Thr2543Pro) c.5224A>C (p.Thr1742Pro) | |
2 | g.237344389A>C | CA431710271 | COL6A3 | c.274T>G c.7011T>G (p.Leu2337=) c.7629T>G (p.Leu2543=) c.5805T>G (p.Leu1935=) c.5808T>G (p.Leu1936=) n.1883T>G c.7029T>G (p.Leu2343=) c.6408T>G (p.Leu2136=) c.7128T>G (p.Leu2376=) c.7626T>G (p.Leu2542=) c.5223T>G (p.Leu1741=) | |
2 | g.237344389A>G | CA431710272 | COL6A3 | c.274T>C c.7011T>C (p.Leu2337=) c.7629T>C (p.Leu2543=) c.5805T>C (p.Leu1935=) c.5808T>C (p.Leu1936=) n.1883T>C c.7029T>C (p.Leu2343=) c.6408T>C (p.Leu2136=) c.7128T>C (p.Leu2376=) c.7626T>C (p.Leu2542=) c.5223T>C (p.Leu1741=) | |
2 | g.237344389A>T | CA431710273 | COL6A3 | c.274T>A c.7011T>A (p.Leu2337=) c.7629T>A (p.Leu2543=) c.5805T>A (p.Leu1935=) c.5808T>A (p.Leu1936=) n.1883T>A c.7029T>A (p.Leu2343=) c.6408T>A (p.Leu2136=) c.7128T>A (p.Leu2376=) c.7626T>A (p.Leu2542=) c.5223T>A (p.Leu1741=) | |
2 | g.237344390A>C | CA351201697 | COL6A3 | c.273T>G c.7010T>G (p.Leu2337Arg) c.7628T>G (p.Leu2543Arg) c.5804T>G (p.Leu1935Arg) c.5807T>G (p.Leu1936Arg) n.1882T>G c.7028T>G (p.Leu2343Arg) c.6407T>G (p.Leu2136Arg) c.7127T>G (p.Leu2376Arg) c.7625T>G (p.Leu2542Arg) c.5222T>G (p.Leu1741Arg) | |
2 | g.237344390A>G | CA351201699 | COL6A3 | c.273T>C c.7010T>C (p.Leu2337Pro) c.7628T>C (p.Leu2543Pro) c.5804T>C (p.Leu1935Pro) c.5807T>C (p.Leu1936Pro) n.1882T>C c.7028T>C (p.Leu2343Pro) c.6407T>C (p.Leu2136Pro) c.7127T>C (p.Leu2376Pro) c.7625T>C (p.Leu2542Pro) c.5222T>C (p.Leu1741Pro) | |
2 | g.237344390A>T | CA351201703 | COL6A3 | c.273T>A c.7010T>A (p.Leu2337His) c.7628T>A (p.Leu2543His) c.5804T>A (p.Leu1935His) c.5807T>A (p.Leu1936His) n.1882T>A c.7028T>A (p.Leu2343His) c.6407T>A (p.Leu2136His) c.7127T>A (p.Leu2376His) c.7625T>A (p.Leu2542His) c.5222T>A (p.Leu1741His) | |
2 | g.237344391G>A | CA351201706 | COL6A3 | c.272C>T c.7009C>T (p.Leu2337Phe) c.7627C>T (p.Leu2543Phe) c.5803C>T (p.Leu1935Phe) c.5806C>T (p.Leu1936Phe) n.1881C>T c.7027C>T (p.Leu2343Phe) c.6406C>T (p.Leu2136Phe) c.7126C>T (p.Leu2376Phe) c.7624C>T (p.Leu2542Phe) c.5221C>T (p.Leu1741Phe) | |
2 | g.237344391G>C | CA351201708 | COL6A3 | c.272C>G c.7009C>G (p.Leu2337Val) c.7627C>G (p.Leu2543Val) c.5803C>G (p.Leu1935Val) c.5806C>G (p.Leu1936Val) n.1881C>G c.7027C>G (p.Leu2343Val) c.6406C>G (p.Leu2136Val) c.7126C>G (p.Leu2376Val) c.7624C>G (p.Leu2542Val) c.5221C>G (p.Leu1741Val) | |
2 | g.237344391G>T | CA351201710 | COL6A3 | c.272C>A c.7009C>A (p.Leu2337Ile) c.7627C>A (p.Leu2543Ile) c.5803C>A (p.Leu1935Ile) c.5806C>A (p.Leu1936Ile) n.1881C>A c.7027C>A (p.Leu2343Ile) c.6406C>A (p.Leu2136Ile) c.7126C>A (p.Leu2376Ile) c.7624C>A (p.Leu2542Ile) c.5221C>A (p.Leu1741Ile) | |
2 | g.237344392G>A | CA2187760 | COL6A3 | c.271C>T c.7008C>T (p.Phe2336=) c.7626C>T (p.Phe2542=) c.5802C>T (p.Phe1934=) c.5805C>T (p.Phe1935=) n.1880C>T c.7026C>T (p.Phe2342=) c.6405C>T (p.Phe2135=) c.7125C>T (p.Phe2375=) c.7623C>T (p.Phe2541=) c.5220C>T (p.Phe1740=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.237344392G>C | CA351201715 | COL6A3 | c.271C>G c.7008C>G (p.Phe2336Leu) c.7626C>G (p.Phe2542Leu) c.5802C>G (p.Phe1934Leu) c.5805C>G (p.Phe1935Leu) n.1880C>G c.7026C>G (p.Phe2342Leu) c.6405C>G (p.Phe2135Leu) c.7125C>G (p.Phe2375Leu) c.7623C>G (p.Phe2541Leu) c.5220C>G (p.Phe1740Leu) | |
2 | g.237344392G= | CA1337610851 | COL6A3 | c.271C= c.7008C= (p.Phe2336=) c.7626C= (p.Phe2542=) c.5802C= (p.Phe1934=) c.5805C= (p.Phe1935=) n.1880C= c.7026C= (p.Phe2342=) c.6405C= (p.Phe2135=) c.7125C= (p.Phe2375=) c.7623C= (p.Phe2541=) c.5220C= (p.Phe1740=) | |
2 | g.237344392G>T | CA351201719 | COL6A3 | c.271C>A c.7008C>A (p.Phe2336Leu) c.7626C>A (p.Phe2542Leu) c.5802C>A (p.Phe1934Leu) c.5805C>A (p.Phe1935Leu) n.1880C>A c.7026C>A (p.Phe2342Leu) c.6405C>A (p.Phe2135Leu) c.7125C>A (p.Phe2375Leu) c.7623C>A (p.Phe2541Leu) c.5220C>A (p.Phe1740Leu) | ClinVar dbSNP gnomAD v4 |
2 | g.237344393A>C | CA351201725 | COL6A3 | c.270T>G c.7007T>G (p.Phe2336Cys) c.7625T>G (p.Phe2542Cys) c.5801T>G (p.Phe1934Cys) c.5804T>G (p.Phe1935Cys) n.1879T>G c.7025T>G (p.Phe2342Cys) c.6404T>G (p.Phe2135Cys) c.7124T>G (p.Phe2375Cys) c.7622T>G (p.Phe2541Cys) c.5219T>G (p.Phe1740Cys) | |
2 | g.237344393A>G | CA351201727 | COL6A3 | c.270T>C c.7007T>C (p.Phe2336Ser) c.7625T>C (p.Phe2542Ser) c.5801T>C (p.Phe1934Ser) c.5804T>C (p.Phe1935Ser) n.1879T>C c.7025T>C (p.Phe2342Ser) c.6404T>C (p.Phe2135Ser) c.7124T>C (p.Phe2375Ser) c.7622T>C (p.Phe2541Ser) c.5219T>C (p.Phe1740Ser) | |
2 | g.237344393A>T | CA351201732 | COL6A3 | c.270T>A c.7007T>A (p.Phe2336Tyr) c.7625T>A (p.Phe2542Tyr) c.5801T>A (p.Phe1934Tyr) c.5804T>A (p.Phe1935Tyr) n.1879T>A c.7025T>A (p.Phe2342Tyr) c.6404T>A (p.Phe2135Tyr) c.7124T>A (p.Phe2375Tyr) c.7622T>A (p.Phe2541Tyr) c.5219T>A (p.Phe1740Tyr) | |
2 | g.237344394A>C | CA351201737 | COL6A3 | c.269T>G c.7006T>G (p.Phe2336Val) c.7624T>G (p.Phe2542Val) c.5800T>G (p.Phe1934Val) c.5803T>G (p.Phe1935Val) n.1878T>G c.7024T>G (p.Phe2342Val) c.6403T>G (p.Phe2135Val) c.7123T>G (p.Phe2375Val) c.7621T>G (p.Phe2541Val) c.5218T>G (p.Phe1740Val) | |
2 | g.237344394A>G | CA351201734 | COL6A3 | c.269T>C c.7006T>C (p.Phe2336Leu) c.7624T>C (p.Phe2542Leu) c.5800T>C (p.Phe1934Leu) c.5803T>C (p.Phe1935Leu) n.1878T>C c.7024T>C (p.Phe2342Leu) c.6403T>C (p.Phe2135Leu) c.7123T>C (p.Phe2375Leu) c.7621T>C (p.Phe2541Leu) c.5218T>C (p.Phe1740Leu) | |
2 | g.237344394A>T | CA351201736 | COL6A3 | c.269T>A c.7006T>A (p.Phe2336Ile) c.7624T>A (p.Phe2542Ile) c.5800T>A (p.Phe1934Ile) c.5803T>A (p.Phe1935Ile) n.1878T>A c.7024T>A (p.Phe2342Ile) c.6403T>A (p.Phe2135Ile) c.7123T>A (p.Phe2375Ile) c.7621T>A (p.Phe2541Ile) c.5218T>A (p.Phe1740Ile) | |
2 | g.237344395C>A | CA351201738 | COL6A3 | c.268G>T c.7005G>T (p.Leu2335Phe) c.7623G>T (p.Leu2541Phe) c.5799G>T (p.Leu1933Phe) c.5802G>T (p.Leu1934Phe) n.1877G>T c.7023G>T (p.Leu2341Phe) c.6402G>T (p.Leu2134Phe) c.7122G>T (p.Leu2374Phe) c.7620G>T (p.Leu2540Phe) c.5217G>T (p.Leu1739Phe) | gnomAD v4 |
2 | g.237344395C= | CA1337610852 | COL6A3 | c.268G= c.7005G= (p.Leu2335=) c.7623G= (p.Leu2541=) c.5799G= (p.Leu1933=) c.5802G= (p.Leu1934=) n.1877G= c.7023G= (p.Leu2341=) c.6402G= (p.Leu2134=) c.7122G= (p.Leu2374=) c.7620G= (p.Leu2540=) c.5217G= (p.Leu1739=) | |
2 | g.237344395C>G | CA2187761 | COL6A3 | c.268G>C c.7005G>C (p.Leu2335Phe) c.7623G>C (p.Leu2541Phe) c.5799G>C (p.Leu1933Phe) c.5802G>C (p.Leu1934Phe) n.1877G>C c.7023G>C (p.Leu2341Phe) c.6402G>C (p.Leu2134Phe) c.7122G>C (p.Leu2374Phe) c.7620G>C (p.Leu2540Phe) c.5217G>C (p.Leu1739Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237344395C>T | CA431710274 | COL6A3 | c.268G>A c.7005G>A (p.Leu2335=) c.7623G>A (p.Leu2541=) c.5799G>A (p.Leu1933=) c.5802G>A (p.Leu1934=) n.1877G>A c.7023G>A (p.Leu2341=) c.6402G>A (p.Leu2134=) c.7122G>A (p.Leu2374=) c.7620G>A (p.Leu2540=) c.5217G>A (p.Leu1739=) | gnomAD v4 |
2 | g.237344396A>C | CA351201743 | COL6A3 | c.267T>G c.7004T>G (p.Leu2335Trp) c.7622T>G (p.Leu2541Trp) c.5798T>G (p.Leu1933Trp) c.5801T>G (p.Leu1934Trp) n.1876T>G c.7022T>G (p.Leu2341Trp) c.6401T>G (p.Leu2134Trp) c.7121T>G (p.Leu2374Trp) c.7619T>G (p.Leu2540Trp) c.5216T>G (p.Leu1739Trp) | |
2 | g.237344396A>G | CA351201746 | COL6A3 | c.267T>C c.7004T>C (p.Leu2335Ser) c.7622T>C (p.Leu2541Ser) c.5798T>C (p.Leu1933Ser) c.5801T>C (p.Leu1934Ser) n.1876T>C c.7022T>C (p.Leu2341Ser) c.6401T>C (p.Leu2134Ser) c.7121T>C (p.Leu2374Ser) c.7619T>C (p.Leu2540Ser) c.5216T>C (p.Leu1739Ser) | gnomAD v4 |
2 | g.237344396A>T | CA351201747 | COL6A3 | c.267T>A c.7004T>A (p.Leu2335Ter) c.7622T>A (p.Leu2541Ter) c.5798T>A (p.Leu1933Ter) c.5801T>A (p.Leu1934Ter) n.1876T>A c.7022T>A (p.Leu2341Ter) c.6401T>A (p.Leu2134Ter) c.7121T>A (p.Leu2374Ter) c.7619T>A (p.Leu2540Ter) c.5216T>A (p.Leu1739Ter) | |
2 | g.237344397A>C | CA351201748 | COL6A3 | c.266T>G c.7003T>G (p.Leu2335Val) c.7621T>G (p.Leu2541Val) c.5797T>G (p.Leu1933Val) c.5800T>G (p.Leu1934Val) n.1875T>G c.7021T>G (p.Leu2341Val) c.6400T>G (p.Leu2134Val) c.7120T>G (p.Leu2374Val) c.7618T>G (p.Leu2540Val) c.5215T>G (p.Leu1739Val) | |
2 | g.237344397A>G | CA431710275 | COL6A3 | c.266T>C c.7003T>C (p.Leu2335=) c.7621T>C (p.Leu2541=) c.5797T>C (p.Leu1933=) c.5800T>C (p.Leu1934=) n.1875T>C c.7021T>C (p.Leu2341=) c.6400T>C (p.Leu2134=) c.7120T>C (p.Leu2374=) c.7618T>C (p.Leu2540=) c.5215T>C (p.Leu1739=) | gnomAD v4 |
2 | g.237344397A>T | CA351201750 | COL6A3 | c.266T>A c.7003T>A (p.Leu2335Met) c.7621T>A (p.Leu2541Met) c.5797T>A (p.Leu1933Met) c.5800T>A (p.Leu1934Met) n.1875T>A c.7021T>A (p.Leu2341Met) c.6400T>A (p.Leu2134Met) c.7120T>A (p.Leu2374Met) c.7618T>A (p.Leu2540Met) c.5215T>A (p.Leu1739Met) | |
2 | g.237344397_237344398delinsAG | CA1337610853 | COL6A3 | c.265_266delinsCT c.7002_7003delinsCT (p.Pro2334=) c.7620_7621delinsCT (p.Pro2540=) c.5796_5797delinsCT (p.Pro1932=) c.5799_5800delinsCT (p.Pro1933=) n.1874_1875delinsCT c.7020_7021delinsCT (p.Pro2340=) c.6399_6400delinsCT (p.Pro2133=) c.7119_7120delinsCT (p.Pro2373=) c.7617_7618delinsCT (p.Pro2539=) c.5214_5215delinsCT (p.Pro1738=) | |
2 | g.237344398G>A | CA431710276 | COL6A3 | c.265C>T c.7002C>T (p.Pro2334=) c.7620C>T (p.Pro2540=) c.5796C>T (p.Pro1932=) c.5799C>T (p.Pro1933=) n.1874C>T c.7020C>T (p.Pro2340=) c.6399C>T (p.Pro2133=) c.7119C>T (p.Pro2373=) c.7617C>T (p.Pro2539=) c.5214C>T (p.Pro1738=) | |
2 | g.237344398G>C | CA431710277 | COL6A3 | c.265C>G c.7002C>G (p.Pro2334=) c.7620C>G (p.Pro2540=) c.5796C>G (p.Pro1932=) c.5799C>G (p.Pro1933=) n.1874C>G c.7020C>G (p.Pro2340=) c.6399C>G (p.Pro2133=) c.7119C>G (p.Pro2373=) c.7617C>G (p.Pro2539=) c.5214C>G (p.Pro1738=) | |
2 | g.237344398G>T | CA431710278 | COL6A3 | c.265C>A c.7002C>A (p.Pro2334=) c.7620C>A (p.Pro2540=) c.5796C>A (p.Pro1932=) c.5799C>A (p.Pro1933=) n.1874C>A c.7020C>A (p.Pro2340=) c.6399C>A (p.Pro2133=) c.7119C>A (p.Pro2373=) c.7617C>A (p.Pro2539=) c.5214C>A (p.Pro1738=) | |
2 | g.237344402del | CA2187762 | COL6A3 | c.265del c.7002del (p.Leu2335CysfsTer?) c.7620del (p.Leu2541CysfsTer?) c.5796del (p.Leu1933CysfsTer?) c.5799del (p.Leu1934CysfsTer?) n.1874del c.7020del (p.Leu2341CysfsTer?) c.6399del (p.Leu2134CysfsTer?) c.7119del (p.Leu2374CysfsTer?) c.7617del (p.Leu2540CysfsTer?) c.5214del (p.Leu1739CysfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237344399G>A | CA2187763 | COL6A3 | c.264C>T c.7001C>T (p.Pro2334Leu) c.7619C>T (p.Pro2540Leu) c.5795C>T (p.Pro1932Leu) c.5798C>T (p.Pro1933Leu) n.1873C>T c.7019C>T (p.Pro2340Leu) c.6398C>T (p.Pro2133Leu) c.7118C>T (p.Pro2373Leu) c.7616C>T (p.Pro2539Leu) c.5213C>T (p.Pro1738Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237344399G>C | CA351201755 | COL6A3 | c.264C>G c.7001C>G (p.Pro2334Arg) c.7619C>G (p.Pro2540Arg) c.5795C>G (p.Pro1932Arg) c.5798C>G (p.Pro1933Arg) n.1873C>G c.7019C>G (p.Pro2340Arg) c.6398C>G (p.Pro2133Arg) c.7118C>G (p.Pro2373Arg) c.7616C>G (p.Pro2539Arg) c.5213C>G (p.Pro1738Arg) | |
2 | g.237344399G= | CA1337610854 | COL6A3 | c.264C= c.7001C= (p.Pro2334=) c.7619C= (p.Pro2540=) c.5795C= (p.Pro1932=) c.5798C= (p.Pro1933=) n.1873C= c.7019C= (p.Pro2340=) c.6398C= (p.Pro2133=) c.7118C= (p.Pro2373=) c.7616C= (p.Pro2539=) c.5213C= (p.Pro1738=) | |
2 | g.237344399G>T | CA351201756 | COL6A3 | c.264C>A c.7001C>A (p.Pro2334His) c.7619C>A (p.Pro2540His) c.5795C>A (p.Pro1932His) c.5798C>A (p.Pro1933His) n.1873C>A c.7019C>A (p.Pro2340His) c.6398C>A (p.Pro2133His) c.7118C>A (p.Pro2373His) c.7616C>A (p.Pro2539His) c.5213C>A (p.Pro1738His) | |
2 | g.237344400G>A | CA351201760 | COL6A3 | c.263C>T c.7000C>T (p.Pro2334Ser) c.7618C>T (p.Pro2540Ser) c.5794C>T (p.Pro1932Ser) c.5797C>T (p.Pro1933Ser) n.1872C>T c.7018C>T (p.Pro2340Ser) c.6397C>T (p.Pro2133Ser) c.7117C>T (p.Pro2373Ser) c.7615C>T (p.Pro2539Ser) c.5212C>T (p.Pro1738Ser) | dbSNP gnomAD v2 |
2 | g.237344400G>C | CA351201758 | COL6A3 | c.263C>G c.7000C>G (p.Pro2334Ala) c.7618C>G (p.Pro2540Ala) c.5794C>G (p.Pro1932Ala) c.5797C>G (p.Pro1933Ala) n.1872C>G c.7018C>G (p.Pro2340Ala) c.6397C>G (p.Pro2133Ala) c.7117C>G (p.Pro2373Ala) c.7615C>G (p.Pro2539Ala) c.5212C>G (p.Pro1738Ala) | |
2 | g.237344400G= | CA1337610855 | COL6A3 | c.263C= c.7000C= (p.Pro2334=) c.7618C= (p.Pro2540=) c.5794C= (p.Pro1932=) c.5797C= (p.Pro1933=) n.1872C= c.7018C= (p.Pro2340=) c.6397C= (p.Pro2133=) c.7117C= (p.Pro2373=) c.7615C= (p.Pro2539=) c.5212C= (p.Pro1738=) | |
2 | g.237344400G>T | CA351201757 | COL6A3 | c.263C>A c.7000C>A (p.Pro2334Thr) c.7618C>A (p.Pro2540Thr) c.5794C>A (p.Pro1932Thr) c.5797C>A (p.Pro1933Thr) n.1872C>A c.7018C>A (p.Pro2340Thr) c.6397C>A (p.Pro2133Thr) c.7117C>A (p.Pro2373Thr) c.7615C>A (p.Pro2539Thr) c.5212C>A (p.Pro1738Thr) | |
2 | g.237344401G>A | CA431710279 | COL6A3 | c.262C>T c.6999C>T (p.Thr2333=) c.7617C>T (p.Thr2539=) c.5793C>T (p.Thr1931=) c.5796C>T (p.Thr1932=) n.1871C>T c.7017C>T (p.Thr2339=) c.6396C>T (p.Thr2132=) c.7116C>T (p.Thr2372=) c.7614C>T (p.Thr2538=) c.5211C>T (p.Thr1737=) | |
2 | g.237344401G>C | CA431710280 | COL6A3 | c.262C>G c.6999C>G (p.Thr2333=) c.7617C>G (p.Thr2539=) c.5793C>G (p.Thr1931=) c.5796C>G (p.Thr1932=) n.1871C>G c.7017C>G (p.Thr2339=) c.6396C>G (p.Thr2132=) c.7116C>G (p.Thr2372=) c.7614C>G (p.Thr2538=) c.5211C>G (p.Thr1737=) | |
2 | g.237344401G>T | CA431710281 | COL6A3 | c.262C>A c.6999C>A (p.Thr2333=) c.7617C>A (p.Thr2539=) c.5793C>A (p.Thr1931=) c.5796C>A (p.Thr1932=) n.1871C>A c.7017C>A (p.Thr2339=) c.6396C>A (p.Thr2132=) c.7116C>A (p.Thr2372=) c.7614C>A (p.Thr2538=) c.5211C>A (p.Thr1737=) | |
2 | g.237344402G>A | CA351201763 | COL6A3 | c.261C>T c.6998C>T (p.Thr2333Ile) c.7616C>T (p.Thr2539Ile) c.5792C>T (p.Thr1931Ile) c.5795C>T (p.Thr1932Ile) n.1870C>T c.7016C>T (p.Thr2339Ile) c.6395C>T (p.Thr2132Ile) c.7115C>T (p.Thr2372Ile) c.7613C>T (p.Thr2538Ile) c.5210C>T (p.Thr1737Ile) | ClinVar dbSNP |
2 | g.237344402G>C | CA351201768 | COL6A3 | c.261C>G c.6998C>G (p.Thr2333Ser) c.7616C>G (p.Thr2539Ser) c.5792C>G (p.Thr1931Ser) c.5795C>G (p.Thr1932Ser) n.1870C>G c.7016C>G (p.Thr2339Ser) c.6395C>G (p.Thr2132Ser) c.7115C>G (p.Thr2372Ser) c.7613C>G (p.Thr2538Ser) c.5210C>G (p.Thr1737Ser) | |
2 | g.237344402G= | CA1337610856 | COL6A3 | c.261C= c.6998C= (p.Thr2333=) c.7616C= (p.Thr2539=) c.5792C= (p.Thr1931=) c.5795C= (p.Thr1932=) n.1870C= c.7016C= (p.Thr2339=) c.6395C= (p.Thr2132=) c.7115C= (p.Thr2372=) c.7613C= (p.Thr2538=) c.5210C= (p.Thr1737=) | |
2 | g.237344402G>T | CA351201766 | COL6A3 | c.261C>A c.6998C>A (p.Thr2333Asn) c.7616C>A (p.Thr2539Asn) c.5792C>A (p.Thr1931Asn) c.5795C>A (p.Thr1932Asn) n.1870C>A c.7016C>A (p.Thr2339Asn) c.6395C>A (p.Thr2132Asn) c.7115C>A (p.Thr2372Asn) c.7613C>A (p.Thr2538Asn) c.5210C>A (p.Thr1737Asn) | |
2 | g.237344403T>A | CA351201769 | COL6A3 | c.260A>T c.6997A>T (p.Thr2333Ser) c.7615A>T (p.Thr2539Ser) c.5791A>T (p.Thr1931Ser) c.5794A>T (p.Thr1932Ser) n.1869A>T c.7015A>T (p.Thr2339Ser) c.6394A>T (p.Thr2132Ser) c.7114A>T (p.Thr2372Ser) c.7612A>T (p.Thr2538Ser) c.5209A>T (p.Thr1737Ser) | |
2 | g.237344403T>C | CA351201770 | COL6A3 | c.260A>G c.6997A>G (p.Thr2333Ala) c.7615A>G (p.Thr2539Ala) c.5791A>G (p.Thr1931Ala) c.5794A>G (p.Thr1932Ala) n.1869A>G c.7015A>G (p.Thr2339Ala) c.6394A>G (p.Thr2132Ala) c.7114A>G (p.Thr2372Ala) c.7612A>G (p.Thr2538Ala) c.5209A>G (p.Thr1737Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237344403T>G | CA351201771 | COL6A3 | c.260A>C c.6997A>C (p.Thr2333Pro) c.7615A>C (p.Thr2539Pro) c.5791A>C (p.Thr1931Pro) c.5794A>C (p.Thr1932Pro) n.1869A>C c.7015A>C (p.Thr2339Pro) c.6394A>C (p.Thr2132Pro) c.7114A>C (p.Thr2372Pro) c.7612A>C (p.Thr2538Pro) c.5209A>C (p.Thr1737Pro) | |
2 | g.237344403T= | CA1337610857 | COL6A3 | c.260A= c.6997A= (p.Thr2333=) c.7615A= (p.Thr2539=) c.5791A= (p.Thr1931=) c.5794A= (p.Thr1932=) n.1869A= c.7015A= (p.Thr2339=) c.6394A= (p.Thr2132=) c.7114A= (p.Thr2372=) c.7612A= (p.Thr2538=) c.5209A= (p.Thr1737=) | |
2 | g.237344404G>A | CA431710283 | COL6A3 | c.259C>T c.6996C>T (p.Ile2332=) c.7614C>T (p.Ile2538=) c.5790C>T (p.Ile1930=) c.5793C>T (p.Ile1931=) n.1868C>T c.7014C>T (p.Ile2338=) c.6393C>T (p.Ile2131=) c.7113C>T (p.Ile2371=) c.7611C>T (p.Ile2537=) c.5208C>T (p.Ile1736=) | |
2 | g.237344404G>C | CA351201774 | COL6A3 | c.259C>G c.6996C>G (p.Ile2332Met) c.7614C>G (p.Ile2538Met) c.5790C>G (p.Ile1930Met) c.5793C>G (p.Ile1931Met) n.1868C>G c.7014C>G (p.Ile2338Met) c.6393C>G (p.Ile2131Met) c.7113C>G (p.Ile2371Met) c.7611C>G (p.Ile2537Met) c.5208C>G (p.Ile1736Met) | |
2 | g.237344404G>T | CA431710282 | COL6A3 | c.259C>A c.6996C>A (p.Ile2332=) c.7614C>A (p.Ile2538=) c.5790C>A (p.Ile1930=) c.5793C>A (p.Ile1931=) n.1868C>A c.7014C>A (p.Ile2338=) c.6393C>A (p.Ile2131=) c.7113C>A (p.Ile2371=) c.7611C>A (p.Ile2537=) c.5208C>A (p.Ile1736=) | |
2 | g.237344405A>C | CA351201777 | COL6A3 | c.258T>G c.6995T>G (p.Ile2332Ser) c.7613T>G (p.Ile2538Ser) c.5789T>G (p.Ile1930Ser) c.5792T>G (p.Ile1931Ser) n.1867T>G c.7013T>G (p.Ile2338Ser) c.6392T>G (p.Ile2131Ser) c.7112T>G (p.Ile2371Ser) c.7610T>G (p.Ile2537Ser) c.5207T>G (p.Ile1736Ser) | |
2 | g.237344405A>G | CA351201778 | COL6A3 | c.258T>C c.6995T>C (p.Ile2332Thr) c.7613T>C (p.Ile2538Thr) c.5789T>C (p.Ile1930Thr) c.5792T>C (p.Ile1931Thr) n.1867T>C c.7013T>C (p.Ile2338Thr) c.6392T>C (p.Ile2131Thr) c.7112T>C (p.Ile2371Thr) c.7610T>C (p.Ile2537Thr) c.5207T>C (p.Ile1736Thr) | |
2 | g.237344405A>T | CA351201779 | COL6A3 | c.258T>A c.6995T>A (p.Ile2332Asn) c.7613T>A (p.Ile2538Asn) c.5789T>A (p.Ile1930Asn) c.5792T>A (p.Ile1931Asn) n.1867T>A c.7013T>A (p.Ile2338Asn) c.6392T>A (p.Ile2131Asn) c.7112T>A (p.Ile2371Asn) c.7610T>A (p.Ile2537Asn) c.5207T>A (p.Ile1736Asn) | |
2 | g.237344406T>A | CA351201780 | COL6A3 | c.257A>T c.6994A>T (p.Ile2332Phe) c.7612A>T (p.Ile2538Phe) c.5788A>T (p.Ile1930Phe) c.5791A>T (p.Ile1931Phe) n.1866A>T c.7012A>T (p.Ile2338Phe) c.6391A>T (p.Ile2131Phe) c.7111A>T (p.Ile2371Phe) c.7609A>T (p.Ile2537Phe) c.5206A>T (p.Ile1736Phe) | |
2 | g.237344406T>C | CA2187764 | COL6A3 | c.257A>G c.6994A>G (p.Ile2332Val) c.7612A>G (p.Ile2538Val) c.5788A>G (p.Ile1930Val) c.5791A>G (p.Ile1931Val) n.1866A>G c.7012A>G (p.Ile2338Val) c.6391A>G (p.Ile2131Val) c.7111A>G (p.Ile2371Val) c.7609A>G (p.Ile2537Val) c.5206A>G (p.Ile1736Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237344406T>G | CA351201790 | COL6A3 | c.257A>C c.6994A>C (p.Ile2332Leu) c.7612A>C (p.Ile2538Leu) c.5788A>C (p.Ile1930Leu) c.5791A>C (p.Ile1931Leu) n.1866A>C c.7012A>C (p.Ile2338Leu) c.6391A>C (p.Ile2131Leu) c.7111A>C (p.Ile2371Leu) c.7609A>C (p.Ile2537Leu) c.5206A>C (p.Ile1736Leu) | |
2 | g.237344406T= | CA1337610858 | COL6A3 | c.257A= c.6994A= (p.Ile2332=) c.7612A= (p.Ile2538=) c.5788A= (p.Ile1930=) c.5791A= (p.Ile1931=) n.1866A= c.7012A= (p.Ile2338=) c.6391A= (p.Ile2131=) c.7111A= (p.Ile2371=) c.7609A= (p.Ile2537=) c.5206A= (p.Ile1736=) | |
2 | g.237344407C>A | CA2187765 | COL6A3 | c.256G>T c.6993G>T (p.Gly2331=) c.7611G>T (p.Gly2537=) c.5787G>T (p.Gly1929=) c.5790G>T (p.Gly1930=) n.1865G>T c.7011G>T (p.Gly2337=) c.6390G>T (p.Gly2130=) c.7110G>T (p.Gly2370=) c.7608G>T (p.Gly2536=) c.5205G>T (p.Gly1735=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237344407C= | CA1337610859 | COL6A3 | c.256G= c.6993G= (p.Gly2331=) c.7611G= (p.Gly2537=) c.5787G= (p.Gly1929=) c.5790G= (p.Gly1930=) n.1865G= c.7011G= (p.Gly2337=) c.6390G= (p.Gly2130=) c.7110G= (p.Gly2370=) c.7608G= (p.Gly2536=) c.5205G= (p.Gly1735=) | |
2 | g.237344407C>G | CA431710284 | COL6A3 | c.256G>C c.6993G>C (p.Gly2331=) c.7611G>C (p.Gly2537=) c.5787G>C (p.Gly1929=) c.5790G>C (p.Gly1930=) n.1865G>C c.7011G>C (p.Gly2337=) c.6390G>C (p.Gly2130=) c.7110G>C (p.Gly2370=) c.7608G>C (p.Gly2536=) c.5205G>C (p.Gly1735=) | |
2 | g.237344407C>T | CA431710285 | COL6A3 | c.256G>A c.6993G>A (p.Gly2331=) c.7611G>A (p.Gly2537=) c.5787G>A (p.Gly1929=) c.5790G>A (p.Gly1930=) n.1865G>A c.7011G>A (p.Gly2337=) c.6390G>A (p.Gly2130=) c.7110G>A (p.Gly2370=) c.7608G>A (p.Gly2536=) c.5205G>A (p.Gly1735=) | ClinVar dbSNP gnomAD v4 |
2 | g.237344408C>A | CA351201799 | COL6A3 | c.255G>T c.6992G>T (p.Gly2331Val) c.7610G>T (p.Gly2537Val) c.5786G>T (p.Gly1929Val) c.5789G>T (p.Gly1930Val) n.1864G>T c.7010G>T (p.Gly2337Val) c.6389G>T (p.Gly2130Val) c.7109G>T (p.Gly2370Val) c.7607G>T (p.Gly2536Val) c.5204G>T (p.Gly1735Val) | |
2 | g.237344408C>G | CA351201797 | COL6A3 | c.255G>C c.6992G>C (p.Gly2331Ala) c.7610G>C (p.Gly2537Ala) c.5786G>C (p.Gly1929Ala) c.5789G>C (p.Gly1930Ala) n.1864G>C c.7010G>C (p.Gly2337Ala) c.6389G>C (p.Gly2130Ala) c.7109G>C (p.Gly2370Ala) c.7607G>C (p.Gly2536Ala) c.5204G>C (p.Gly1735Ala) | |
2 | g.237344408C>T | CA351201796 | COL6A3 | c.255G>A c.6992G>A (p.Gly2331Glu) c.7610G>A (p.Gly2537Glu) c.5786G>A (p.Gly1929Glu) c.5789G>A (p.Gly1930Glu) n.1864G>A c.7010G>A (p.Gly2337Glu) c.6389G>A (p.Gly2130Glu) c.7109G>A (p.Gly2370Glu) c.7607G>A (p.Gly2536Glu) c.5204G>A (p.Gly1735Glu) | gnomAD v4 COSMIC |
2 | g.237344409C>A | CA351201801 | COL6A3 | c.254G>T c.6991G>T (p.Gly2331Trp) c.7609G>T (p.Gly2537Trp) c.5785G>T (p.Gly1929Trp) c.5788G>T (p.Gly1930Trp) n.1863G>T c.7009G>T (p.Gly2337Trp) c.6388G>T (p.Gly2130Trp) c.7108G>T (p.Gly2370Trp) c.7606G>T (p.Gly2536Trp) c.5203G>T (p.Gly1735Trp) | COSMIC |
2 | g.237344409C= | CA1337610860 | COL6A3 | c.254G= c.6991G= (p.Gly2331=) c.7609G= (p.Gly2537=) c.5785G= (p.Gly1929=) c.5788G= (p.Gly1930=) n.1863G= c.7009G= (p.Gly2337=) c.6388G= (p.Gly2130=) c.7108G= (p.Gly2370=) c.7606G= (p.Gly2536=) c.5203G= (p.Gly1735=) | |
2 | g.237344409C>G | CA351201804 | COL6A3 | c.254G>C c.6991G>C (p.Gly2331Arg) c.7609G>C (p.Gly2537Arg) c.5785G>C (p.Gly1929Arg) c.5788G>C (p.Gly1930Arg) n.1863G>C c.7009G>C (p.Gly2337Arg) c.6388G>C (p.Gly2130Arg) c.7108G>C (p.Gly2370Arg) c.7606G>C (p.Gly2536Arg) c.5203G>C (p.Gly1735Arg) | ClinVar |
2 | g.237344409C>T | CA351201809 | COL6A3 | c.254G>A c.6991G>A (p.Gly2331Arg) c.7609G>A (p.Gly2537Arg) c.5785G>A (p.Gly1929Arg) c.5788G>A (p.Gly1930Arg) n.1863G>A c.7009G>A (p.Gly2337Arg) c.6388G>A (p.Gly2130Arg) c.7108G>A (p.Gly2370Arg) c.7606G>A (p.Gly2536Arg) c.5203G>A (p.Gly1735Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237344410C>A | CA431710286 | COL6A3 | c.253G>T c.6990G>T (p.Ala2330=) c.7608G>T (p.Ala2536=) c.5784G>T (p.Ala1928=) c.5787G>T (p.Ala1929=) n.1862G>T c.7008G>T (p.Ala2336=) c.6387G>T (p.Ala2129=) c.7107G>T (p.Ala2369=) c.7605G>T (p.Ala2535=) c.5202G>T (p.Ala1734=) | ClinVar dbSNP gnomAD v4 |
2 | g.237344410C= | CA1337610861 | COL6A3 | c.253G= c.6990G= (p.Ala2330=) c.7608G= (p.Ala2536=) c.5784G= (p.Ala1928=) c.5787G= (p.Ala1929=) n.1862G= c.7008G= (p.Ala2336=) c.6387G= (p.Ala2129=) c.7107G= (p.Ala2369=) c.7605G= (p.Ala2535=) c.5202G= (p.Ala1734=) | |
2 | g.237344410C>G | CA431710287 | COL6A3 | c.253G>C c.6990G>C (p.Ala2330=) c.7608G>C (p.Ala2536=) c.5784G>C (p.Ala1928=) c.5787G>C (p.Ala1929=) n.1862G>C c.7008G>C (p.Ala2336=) c.6387G>C (p.Ala2129=) c.7107G>C (p.Ala2369=) c.7605G>C (p.Ala2535=) c.5202G>C (p.Ala1734=) | |
2 | g.237344410C>T | CA2187766 | COL6A3 | c.253G>A c.6990G>A (p.Ala2330=) c.7608G>A (p.Ala2536=) c.5784G>A (p.Ala1928=) c.5787G>A (p.Ala1929=) n.1862G>A c.7008G>A (p.Ala2336=) c.6387G>A (p.Ala2129=) c.7107G>A (p.Ala2369=) c.7605G>A (p.Ala2535=) c.5202G>A (p.Ala1734=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237344411G>A | CA2187767 | COL6A3 | c.252C>T c.6989C>T (p.Ala2330Val) c.7607C>T (p.Ala2536Val) c.5783C>T (p.Ala1928Val) c.5786C>T (p.Ala1929Val) n.1861C>T c.7007C>T (p.Ala2336Val) c.6386C>T (p.Ala2129Val) c.7106C>T (p.Ala2369Val) c.7604C>T (p.Ala2535Val) c.5201C>T (p.Ala1734Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237344411G>C | CA351201819 | COL6A3 | c.252C>G c.6989C>G (p.Ala2330Gly) c.7607C>G (p.Ala2536Gly) c.5783C>G (p.Ala1928Gly) c.5786C>G (p.Ala1929Gly) n.1861C>G c.7007C>G (p.Ala2336Gly) c.6386C>G (p.Ala2129Gly) c.7106C>G (p.Ala2369Gly) c.7604C>G (p.Ala2535Gly) c.5201C>G (p.Ala1734Gly) | gnomAD v4 |
2 | g.237344411G= | CA1337610862 | COL6A3 | c.252C= c.6989C= (p.Ala2330=) c.7607C= (p.Ala2536=) c.5783C= (p.Ala1928=) c.5786C= (p.Ala1929=) n.1861C= c.7007C= (p.Ala2336=) c.6386C= (p.Ala2129=) c.7106C= (p.Ala2369=) c.7604C= (p.Ala2535=) c.5201C= (p.Ala1734=) | |
2 | g.237344411G>T | CA351201825 | COL6A3 | c.252C>A c.6989C>A (p.Ala2330Glu) c.7607C>A (p.Ala2536Glu) c.5783C>A (p.Ala1928Glu) c.5786C>A (p.Ala1929Glu) n.1861C>A c.7007C>A (p.Ala2336Glu) c.6386C>A (p.Ala2129Glu) c.7106C>A (p.Ala2369Glu) c.7604C>A (p.Ala2535Glu) c.5201C>A (p.Ala1734Glu) | |
2 | g.237344412C>A | CA351201828 | COL6A3 | c.251G>T c.6988G>T (p.Ala2330Ser) c.7606G>T (p.Ala2536Ser) c.5782G>T (p.Ala1928Ser) c.5785G>T (p.Ala1929Ser) n.1860G>T c.7006G>T (p.Ala2336Ser) c.6385G>T (p.Ala2129Ser) c.7105G>T (p.Ala2369Ser) c.7603G>T (p.Ala2535Ser) c.5200G>T (p.Ala1734Ser) | |
2 | g.237344412C= | CA1337610863 | COL6A3 | c.251G= c.6988G= (p.Ala2330=) c.7606G= (p.Ala2536=) c.5782G= (p.Ala1928=) c.5785G= (p.Ala1929=) n.1860G= c.7006G= (p.Ala2336=) c.6385G= (p.Ala2129=) c.7105G= (p.Ala2369=) c.7603G= (p.Ala2535=) c.5200G= (p.Ala1734=) | |
2 | g.237344412C>G | CA351201831 | COL6A3 | c.251G>C c.6988G>C (p.Ala2330Pro) c.7606G>C (p.Ala2536Pro) c.5782G>C (p.Ala1928Pro) c.5785G>C (p.Ala1929Pro) n.1860G>C c.7006G>C (p.Ala2336Pro) c.6385G>C (p.Ala2129Pro) c.7105G>C (p.Ala2369Pro) c.7603G>C (p.Ala2535Pro) c.5200G>C (p.Ala1734Pro) | |
2 | g.237344412C>T | CA2187768 | COL6A3 | c.251G>A c.6988G>A (p.Ala2330Thr) c.7606G>A (p.Ala2536Thr) c.5782G>A (p.Ala1928Thr) c.5785G>A (p.Ala1929Thr) n.1860G>A c.7006G>A (p.Ala2336Thr) c.6385G>A (p.Ala2129Thr) c.7105G>A (p.Ala2369Thr) c.7603G>A (p.Ala2535Thr) c.5200G>A (p.Ala1734Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237344413A>C | CA351201834 | COL6A3 | c.250T>G c.6987T>G (p.Asp2329Glu) c.7605T>G (p.Asp2535Glu) c.5781T>G (p.Asp1927Glu) c.5784T>G (p.Asp1928Glu) n.1859T>G c.7005T>G (p.Asp2335Glu) c.6384T>G (p.Asp2128Glu) c.7104T>G (p.Asp2368Glu) c.7602T>G (p.Asp2534Glu) c.5199T>G (p.Asp1733Glu) | |
2 | g.237344413A>G | CA431710288 | COL6A3 | c.250T>C c.6987T>C (p.Asp2329=) c.7605T>C (p.Asp2535=) c.5781T>C (p.Asp1927=) c.5784T>C (p.Asp1928=) n.1859T>C c.7005T>C (p.Asp2335=) c.6384T>C (p.Asp2128=) c.7104T>C (p.Asp2368=) c.7602T>C (p.Asp2534=) c.5199T>C (p.Asp1733=) | gnomAD v4 |
2 | g.237344413A>T | CA351201838 | COL6A3 | c.250T>A c.6987T>A (p.Asp2329Glu) c.7605T>A (p.Asp2535Glu) c.5781T>A (p.Asp1927Glu) c.5784T>A (p.Asp1928Glu) n.1859T>A c.7005T>A (p.Asp2335Glu) c.6384T>A (p.Asp2128Glu) c.7104T>A (p.Asp2368Glu) c.7602T>A (p.Asp2534Glu) c.5199T>A (p.Asp1733Glu) | |
2 | g.237344414T>A | CA351201842 | COL6A3 | c.249A>T c.6986A>T (p.Asp2329Val) c.7604A>T (p.Asp2535Val) c.5780A>T (p.Asp1927Val) c.5783A>T (p.Asp1928Val) n.1858A>T c.7004A>T (p.Asp2335Val) c.6383A>T (p.Asp2128Val) c.7103A>T (p.Asp2368Val) c.7601A>T (p.Asp2534Val) c.5198A>T (p.Asp1733Val) | |
2 | g.237344414T>C | CA351201841 | COL6A3 | c.249A>G c.6986A>G (p.Asp2329Gly) c.7604A>G (p.Asp2535Gly) c.5780A>G (p.Asp1927Gly) c.5783A>G (p.Asp1928Gly) n.1858A>G c.7004A>G (p.Asp2335Gly) c.6383A>G (p.Asp2128Gly) c.7103A>G (p.Asp2368Gly) c.7601A>G (p.Asp2534Gly) c.5198A>G (p.Asp1733Gly) | dbSNP |
2 | g.237344414T>G | CA351201840 | COL6A3 | c.249A>C c.6986A>C (p.Asp2329Ala) c.7604A>C (p.Asp2535Ala) c.5780A>C (p.Asp1927Ala) c.5783A>C (p.Asp1928Ala) n.1858A>C c.7004A>C (p.Asp2335Ala) c.6383A>C (p.Asp2128Ala) c.7103A>C (p.Asp2368Ala) c.7601A>C (p.Asp2534Ala) c.5198A>C (p.Asp1733Ala) | |
2 | g.237344414T= | CA1337610864 | COL6A3 | c.249A= c.6986A= (p.Asp2329=) c.7604A= (p.Asp2535=) c.5780A= (p.Asp1927=) c.5783A= (p.Asp1928=) n.1858A= c.7004A= (p.Asp2335=) c.6383A= (p.Asp2128=) c.7103A= (p.Asp2368=) c.7601A= (p.Asp2534=) c.5198A= (p.Asp1733=) | |
2 | g.237344415C>A | CA351201845 | COL6A3 | c.248G>T c.6985G>T (p.Asp2329Tyr) c.7603G>T (p.Asp2535Tyr) c.5779G>T (p.Asp1927Tyr) c.5782G>T (p.Asp1928Tyr) n.1857G>T c.7003G>T (p.Asp2335Tyr) c.6382G>T (p.Asp2128Tyr) c.7102G>T (p.Asp2368Tyr) c.7600G>T (p.Asp2534Tyr) c.5197G>T (p.Asp1733Tyr) | ClinVar dbSNP |
2 | g.237344415C>G | CA351201846 | COL6A3 | c.248G>C c.6985G>C (p.Asp2329His) c.7603G>C (p.Asp2535His) c.5779G>C (p.Asp1927His) c.5782G>C (p.Asp1928His) n.1857G>C c.7003G>C (p.Asp2335His) c.6382G>C (p.Asp2128His) c.7102G>C (p.Asp2368His) c.7600G>C (p.Asp2534His) c.5197G>C (p.Asp1733His) | |
2 | g.237344415C>T | CA351201849 | COL6A3 | c.248G>A c.6985G>A (p.Asp2329Asn) c.7603G>A (p.Asp2535Asn) c.5779G>A (p.Asp1927Asn) c.5782G>A (p.Asp1928Asn) n.1857G>A c.7003G>A (p.Asp2335Asn) c.6382G>A (p.Asp2128Asn) c.7102G>A (p.Asp2368Asn) c.7600G>A (p.Asp2534Asn) c.5197G>A (p.Asp1733Asn) | |
2 | g.237344416T>A | CA431710291 | COL6A3 | c.247A>T c.6984A>T (p.Ser2328=) c.7602A>T (p.Ser2534=) c.5778A>T (p.Ser1926=) c.5781A>T (p.Ser1927=) n.1856A>T c.7002A>T (p.Ser2334=) c.6381A>T (p.Ser2127=) c.7101A>T (p.Ser2367=) c.7599A>T (p.Ser2533=) c.5196A>T (p.Ser1732=) | |
2 | g.237344416T>C | CA431710289 | COL6A3 | c.247A>G c.6984A>G (p.Ser2328=) c.7602A>G (p.Ser2534=) c.5778A>G (p.Ser1926=) c.5781A>G (p.Ser1927=) n.1856A>G c.7002A>G (p.Ser2334=) c.6381A>G (p.Ser2127=) c.7101A>G (p.Ser2367=) c.7599A>G (p.Ser2533=) c.5196A>G (p.Ser1732=) | |
2 | g.237344416T>G | CA431710290 | COL6A3 | c.247A>C c.6984A>C (p.Ser2328=) c.7602A>C (p.Ser2534=) c.5778A>C (p.Ser1926=) c.5781A>C (p.Ser1927=) n.1856A>C c.7002A>C (p.Ser2334=) c.6381A>C (p.Ser2127=) c.7101A>C (p.Ser2367=) c.7599A>C (p.Ser2533=) c.5196A>C (p.Ser1732=) | |
2 | g.237344417G>A | CA351201851 | COL6A3 | c.246C>T c.6983C>T (p.Ser2328Leu) c.7601C>T (p.Ser2534Leu) c.5777C>T (p.Ser1926Leu) c.5780C>T (p.Ser1927Leu) n.1855C>T c.7001C>T (p.Ser2334Leu) c.6380C>T (p.Ser2127Leu) c.7100C>T (p.Ser2367Leu) c.7598C>T (p.Ser2533Leu) c.5195C>T (p.Ser1732Leu) | |
2 | g.237344417G>C | CA351201852 | COL6A3 | c.246C>G c.6983C>G (p.Ser2328Ter) c.7601C>G (p.Ser2534Ter) c.5777C>G (p.Ser1926Ter) c.5780C>G (p.Ser1927Ter) n.1855C>G c.7001C>G (p.Ser2334Ter) c.6380C>G (p.Ser2127Ter) c.7100C>G (p.Ser2367Ter) c.7598C>G (p.Ser2533Ter) c.5195C>G (p.Ser1732Ter) | |
2 | g.237344417G>T | CA351201855 | COL6A3 | c.246C>A c.6983C>A (p.Ser2328Ter) c.7601C>A (p.Ser2534Ter) c.5777C>A (p.Ser1926Ter) c.5780C>A (p.Ser1927Ter) n.1855C>A c.7001C>A (p.Ser2334Ter) c.6380C>A (p.Ser2127Ter) c.7100C>A (p.Ser2367Ter) c.7598C>A (p.Ser2533Ter) c.5195C>A (p.Ser1732Ter) | |
2 | g.237344420_237344421del | CA2663794524 | COL6A3 | c.245_246del c.6982_6983del (p.Ser2328ArgfsTer25) c.7600_7601del (p.Ser2534ArgfsTer25) c.5776_5777del (p.Ser1926ArgfsTer25) c.5779_5780del (p.Ser1927ArgfsTer25) n.1854_1855del c.7000_7001del (p.Ser2334ArgfsTer25) c.6379_6380del (p.Ser2127ArgfsTer25) c.7099_7100del (p.Ser2367ArgfsTer25) c.7597_7598del (p.Ser2533ArgfsTer25) c.5194_5195del (p.Ser1732ArgfsTer25) | gnomAD v4 |
2 | g.237344418A>C | CA351201861 | COL6A3 | c.245T>G c.6982T>G (p.Ser2328Ala) c.7600T>G (p.Ser2534Ala) c.5776T>G (p.Ser1926Ala) c.5779T>G (p.Ser1927Ala) n.1854T>G c.7000T>G (p.Ser2334Ala) c.6379T>G (p.Ser2127Ala) c.7099T>G (p.Ser2367Ala) c.7597T>G (p.Ser2533Ala) c.5194T>G (p.Ser1732Ala) | |
2 | g.237344418A>G | CA351201864 | COL6A3 | c.245T>C c.6982T>C (p.Ser2328Pro) c.7600T>C (p.Ser2534Pro) c.5776T>C (p.Ser1926Pro) c.5779T>C (p.Ser1927Pro) n.1854T>C c.7000T>C (p.Ser2334Pro) c.6379T>C (p.Ser2127Pro) c.7099T>C (p.Ser2367Pro) c.7597T>C (p.Ser2533Pro) c.5194T>C (p.Ser1732Pro) | |
2 | g.237344418A>T | CA351201865 | COL6A3 | c.245T>A c.6982T>A (p.Ser2328Thr) c.7600T>A (p.Ser2534Thr) c.5776T>A (p.Ser1926Thr) c.5779T>A (p.Ser1927Thr) n.1854T>A c.7000T>A (p.Ser2334Thr) c.6379T>A (p.Ser2127Thr) c.7099T>A (p.Ser2367Thr) c.7597T>A (p.Ser2533Thr) c.5194T>A (p.Ser1732Thr) | |
2 | g.237344419G>A | CA431710292 | COL6A3 | c.244C>T c.6981C>T (p.Leu2327=) c.7599C>T (p.Leu2533=) c.5775C>T (p.Leu1925=) c.5778C>T (p.Leu1926=) n.1853C>T c.6999C>T (p.Leu2333=) c.6378C>T (p.Leu2126=) c.7098C>T (p.Leu2366=) c.7596C>T (p.Leu2532=) c.5193C>T (p.Leu1731=) | gnomAD v4 |
2 | g.237344419G>C | CA431710293 | COL6A3 | c.244C>G c.6981C>G (p.Leu2327=) c.7599C>G (p.Leu2533=) c.5775C>G (p.Leu1925=) c.5778C>G (p.Leu1926=) n.1853C>G c.6999C>G (p.Leu2333=) c.6378C>G (p.Leu2126=) c.7098C>G (p.Leu2366=) c.7596C>G (p.Leu2532=) c.5193C>G (p.Leu1731=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237344419G= | CA1337610865 | COL6A3 | c.244C= c.6981C= (p.Leu2327=) c.7599C= (p.Leu2533=) c.5775C= (p.Leu1925=) c.5778C= (p.Leu1926=) n.1853C= c.6999C= (p.Leu2333=) c.6378C= (p.Leu2126=) c.7098C= (p.Leu2366=) c.7596C= (p.Leu2532=) c.5193C= (p.Leu1731=) | |
2 | g.237344419G>T | CA431710294 | COL6A3 | c.244C>A c.6981C>A (p.Leu2327=) c.7599C>A (p.Leu2533=) c.5775C>A (p.Leu1925=) c.5778C>A (p.Leu1926=) n.1853C>A c.6999C>A (p.Leu2333=) c.6378C>A (p.Leu2126=) c.7098C>A (p.Leu2366=) c.7596C>A (p.Leu2532=) c.5193C>A (p.Leu1731=) | |
2 | g.237344420A>C | CA351201871 | COL6A3 | c.243T>G c.6980T>G (p.Leu2327Arg) c.7598T>G (p.Leu2533Arg) c.5774T>G (p.Leu1925Arg) c.5777T>G (p.Leu1926Arg) n.1852T>G c.6998T>G (p.Leu2333Arg) c.6377T>G (p.Leu2126Arg) c.7097T>G (p.Leu2366Arg) c.7595T>G (p.Leu2532Arg) c.5192T>G (p.Leu1731Arg) | |
2 | g.237344420A>G | CA351201874 | COL6A3 | c.243T>C c.6980T>C (p.Leu2327Pro) c.7598T>C (p.Leu2533Pro) c.5774T>C (p.Leu1925Pro) c.5777T>C (p.Leu1926Pro) n.1852T>C c.6998T>C (p.Leu2333Pro) c.6377T>C (p.Leu2126Pro) c.7097T>C (p.Leu2366Pro) c.7595T>C (p.Leu2532Pro) c.5192T>C (p.Leu1731Pro) | |
2 | g.237344420A>T | CA351201875 | COL6A3 | c.243T>A c.6980T>A (p.Leu2327His) c.7598T>A (p.Leu2533His) c.5774T>A (p.Leu1925His) c.5777T>A (p.Leu1926His) n.1852T>A c.6998T>A (p.Leu2333His) c.6377T>A (p.Leu2126His) c.7097T>A (p.Leu2366His) c.7595T>A (p.Leu2532His) c.5192T>A (p.Leu1731His) | |
2 | g.237344421G>A | CA351201883 | COL6A3 | c.242C>T c.6979C>T (p.Leu2327Phe) c.7597C>T (p.Leu2533Phe) c.5773C>T (p.Leu1925Phe) c.5776C>T (p.Leu1926Phe) n.1851C>T c.6997C>T (p.Leu2333Phe) c.6376C>T (p.Leu2126Phe) c.7096C>T (p.Leu2366Phe) c.7594C>T (p.Leu2532Phe) c.5191C>T (p.Leu1731Phe) | |
2 | g.237344421G>C | CA351201878 | COL6A3 | c.242C>G c.6979C>G (p.Leu2327Val) c.7597C>G (p.Leu2533Val) c.5773C>G (p.Leu1925Val) c.5776C>G (p.Leu1926Val) n.1851C>G c.6997C>G (p.Leu2333Val) c.6376C>G (p.Leu2126Val) c.7096C>G (p.Leu2366Val) c.7594C>G (p.Leu2532Val) c.5191C>G (p.Leu1731Val) | |
2 | g.237344421G= | CA1337610866 | COL6A3 | c.242C= c.6979C= (p.Leu2327=) c.7597C= (p.Leu2533=) c.5773C= (p.Leu1925=) c.5776C= (p.Leu1926=) n.1851C= c.6997C= (p.Leu2333=) c.6376C= (p.Leu2126=) c.7096C= (p.Leu2366=) c.7594C= (p.Leu2532=) c.5191C= (p.Leu1731=) | |
2 | g.237344421G>T | CA351201876 | COL6A3 | c.242C>A c.6979C>A (p.Leu2327Ile) c.7597C>A (p.Leu2533Ile) c.5773C>A (p.Leu1925Ile) c.5776C>A (p.Leu1926Ile) n.1851C>A c.6997C>A (p.Leu2333Ile) c.6376C>A (p.Leu2126Ile) c.7096C>A (p.Leu2366Ile) c.7594C>A (p.Leu2532Ile) c.5191C>A (p.Leu1731Ile) | ClinVar dbSNP |
2 | g.237344422C>A | CA351201885 | COL6A3 | c.241G>T c.6978G>T (p.Lys2326Asn) c.7596G>T (p.Lys2532Asn) c.5772G>T (p.Lys1924Asn) c.5775G>T (p.Lys1925Asn) n.1850G>T c.6996G>T (p.Lys2332Asn) c.6375G>T (p.Lys2125Asn) c.7095G>T (p.Lys2365Asn) c.7593G>T (p.Lys2531Asn) c.5190G>T (p.Lys1730Asn) | |
2 | g.237344422C= | CA1337610867 | COL6A3 | c.241G= c.6978G= (p.Lys2326=) c.7596G= (p.Lys2532=) c.5772G= (p.Lys1924=) c.5775G= (p.Lys1925=) n.1850G= c.6996G= (p.Lys2332=) c.6375G= (p.Lys2125=) c.7095G= (p.Lys2365=) c.7593G= (p.Lys2531=) c.5190G= (p.Lys1730=) | |
2 | g.237344422C>G | CA351201887 | COL6A3 | c.241G>C c.6978G>C (p.Lys2326Asn) c.7596G>C (p.Lys2532Asn) c.5772G>C (p.Lys1924Asn) c.5775G>C (p.Lys1925Asn) n.1850G>C c.6996G>C (p.Lys2332Asn) c.6375G>C (p.Lys2125Asn) c.7095G>C (p.Lys2365Asn) c.7593G>C (p.Lys2531Asn) c.5190G>C (p.Lys1730Asn) | |
2 | g.237344422C>T | CA148036 | COL6A3 | c.241G>A c.6978G>A (p.Lys2326=) c.7596G>A (p.Lys2532=) c.5772G>A (p.Lys1924=) c.5775G>A (p.Lys1925=) n.1850G>A c.6996G>A (p.Lys2332=) c.6375G>A (p.Lys2125=) c.7095G>A (p.Lys2365=) c.7593G>A (p.Lys2531=) c.5190G>A (p.Lys1730=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237344422_237344436del | CA2663794527 | COL6A3 | c.227_241del c.6964_6978del (p.Glu2322_Lys2326del) c.7582_7596del (p.Glu2528_Lys2532del) c.5758_5772del (p.Glu1920_Lys1924del) c.5761_5775del (p.Glu1921_Lys1925del) n.1836_1850del c.6982_6996del (p.Glu2328_Lys2332del) c.6361_6375del (p.Glu2121_Lys2125del) c.7081_7095del (p.Glu2361_Lys2365del) c.7579_7593del (p.Glu2527_Lys2531del) c.5176_5190del (p.Glu1726_Lys1730del) | gnomAD v4 |
2 | g.237344423T>A | CA351201892 | COL6A3 | c.240A>T c.6977A>T (p.Lys2326Met) c.7595A>T (p.Lys2532Met) c.5771A>T (p.Lys1924Met) c.5774A>T (p.Lys1925Met) n.1849A>T c.6995A>T (p.Lys2332Met) c.6374A>T (p.Lys2125Met) c.7094A>T (p.Lys2365Met) c.7592A>T (p.Lys2531Met) c.5189A>T (p.Lys1730Met) | |
2 | g.237344423T>C | CA351201896 | COL6A3 | c.240A>G c.6977A>G (p.Lys2326Arg) c.7595A>G (p.Lys2532Arg) c.5771A>G (p.Lys1924Arg) c.5774A>G (p.Lys1925Arg) n.1849A>G c.6995A>G (p.Lys2332Arg) c.6374A>G (p.Lys2125Arg) c.7094A>G (p.Lys2365Arg) c.7592A>G (p.Lys2531Arg) c.5189A>G (p.Lys1730Arg) | ClinVar |
2 | g.237344423T>G | CA351201898 | COL6A3 | c.240A>C c.6977A>C (p.Lys2326Thr) c.7595A>C (p.Lys2532Thr) c.5771A>C (p.Lys1924Thr) c.5774A>C (p.Lys1925Thr) n.1849A>C c.6995A>C (p.Lys2332Thr) c.6374A>C (p.Lys2125Thr) c.7094A>C (p.Lys2365Thr) c.7592A>C (p.Lys2531Thr) c.5189A>C (p.Lys1730Thr) | |
2 | g.237344424T>A | CA351201902 | COL6A3 | c.239A>T c.6976A>T (p.Lys2326Ter) c.7594A>T (p.Lys2532Ter) c.5770A>T (p.Lys1924Ter) c.5773A>T (p.Lys1925Ter) n.1848A>T c.6994A>T (p.Lys2332Ter) c.6373A>T (p.Lys2125Ter) c.7093A>T (p.Lys2365Ter) c.7591A>T (p.Lys2531Ter) c.5188A>T (p.Lys1730Ter) | |
2 | g.237344424T>C | CA351201918 | COL6A3 | c.239A>G c.6976A>G (p.Lys2326Glu) c.7594A>G (p.Lys2532Glu) c.5770A>G (p.Lys1924Glu) c.5773A>G (p.Lys1925Glu) n.1848A>G c.6994A>G (p.Lys2332Glu) c.6373A>G (p.Lys2125Glu) c.7093A>G (p.Lys2365Glu) c.7591A>G (p.Lys2531Glu) c.5188A>G (p.Lys1730Glu) | |
2 | g.237344424T>G | CA2187769 | COL6A3 | c.239A>C c.6976A>C (p.Lys2326Gln) c.7594A>C (p.Lys2532Gln) c.5770A>C (p.Lys1924Gln) c.5773A>C (p.Lys1925Gln) n.1848A>C c.6994A>C (p.Lys2332Gln) c.6373A>C (p.Lys2125Gln) c.7093A>C (p.Lys2365Gln) c.7591A>C (p.Lys2531Gln) c.5188A>C (p.Lys1730Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237344424T= | CA1337610868 | COL6A3 | c.239A= c.6976A= (p.Lys2326=) c.7594A= (p.Lys2532=) c.5770A= (p.Lys1924=) c.5773A= (p.Lys1925=) n.1848A= c.6994A= (p.Lys2332=) c.6373A= (p.Lys2125=) c.7093A= (p.Lys2365=) c.7591A= (p.Lys2531=) c.5188A= (p.Lys1730=) | |
2 | g.237344425G>A | CA2187770 | COL6A3 | c.238C>T c.6975C>T (p.Leu2325=) c.7593C>T (p.Leu2531=) c.5769C>T (p.Leu1923=) c.5772C>T (p.Leu1924=) n.1847C>T c.6993C>T (p.Leu2331=) c.6372C>T (p.Leu2124=) c.7092C>T (p.Leu2364=) c.7590C>T (p.Leu2530=) c.5187C>T (p.Leu1729=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237344425G>C | CA431710296 | COL6A3 | c.238C>G c.6975C>G (p.Leu2325=) c.7593C>G (p.Leu2531=) c.5769C>G (p.Leu1923=) c.5772C>G (p.Leu1924=) n.1847C>G c.6993C>G (p.Leu2331=) c.6372C>G (p.Leu2124=) c.7092C>G (p.Leu2364=) c.7590C>G (p.Leu2530=) c.5187C>G (p.Leu1729=) | |
2 | g.237344425G= | CA1337610869 | COL6A3 | c.238C= c.6975C= (p.Leu2325=) c.7593C= (p.Leu2531=) c.5769C= (p.Leu1923=) c.5772C= (p.Leu1924=) n.1847C= c.6993C= (p.Leu2331=) c.6372C= (p.Leu2124=) c.7092C= (p.Leu2364=) c.7590C= (p.Leu2530=) c.5187C= (p.Leu1729=) | |
2 | g.237344425G>T | CA431710295 | COL6A3 | c.238C>A c.6975C>A (p.Leu2325=) c.7593C>A (p.Leu2531=) c.5769C>A (p.Leu1923=) c.5772C>A (p.Leu1924=) n.1847C>A c.6993C>A (p.Leu2331=) c.6372C>A (p.Leu2124=) c.7092C>A (p.Leu2364=) c.7590C>A (p.Leu2530=) c.5187C>A (p.Leu1729=) | |
2 | g.237344426A>C | CA351201925 | COL6A3 | c.237T>G c.6974T>G (p.Leu2325Arg) c.7592T>G (p.Leu2531Arg) c.5768T>G (p.Leu1923Arg) c.5771T>G (p.Leu1924Arg) n.1846T>G c.6992T>G (p.Leu2331Arg) c.6371T>G (p.Leu2124Arg) c.7091T>G (p.Leu2364Arg) c.7589T>G (p.Leu2530Arg) c.5186T>G (p.Leu1729Arg) | |
2 | g.237344426A>G | CA351201928 | COL6A3 | c.237T>C c.6974T>C (p.Leu2325Pro) c.7592T>C (p.Leu2531Pro) c.5768T>C (p.Leu1923Pro) c.5771T>C (p.Leu1924Pro) n.1846T>C c.6992T>C (p.Leu2331Pro) c.6371T>C (p.Leu2124Pro) c.7091T>C (p.Leu2364Pro) c.7589T>C (p.Leu2530Pro) c.5186T>C (p.Leu1729Pro) | |
2 | g.237344426A>T | CA351201930 | COL6A3 | c.237T>A c.6974T>A (p.Leu2325His) c.7592T>A (p.Leu2531His) c.5768T>A (p.Leu1923His) c.5771T>A (p.Leu1924His) n.1846T>A c.6992T>A (p.Leu2331His) c.6371T>A (p.Leu2124His) c.7091T>A (p.Leu2364His) c.7589T>A (p.Leu2530His) c.5186T>A (p.Leu1729His) | |
2 | g.237344427G>A | CA351201934 | COL6A3 | c.236C>T c.6973C>T (p.Leu2325Phe) c.7591C>T (p.Leu2531Phe) c.5767C>T (p.Leu1923Phe) c.5770C>T (p.Leu1924Phe) n.1845C>T c.6991C>T (p.Leu2331Phe) c.6370C>T (p.Leu2124Phe) c.7090C>T (p.Leu2364Phe) c.7588C>T (p.Leu2530Phe) c.5185C>T (p.Leu1729Phe) | |
2 | g.237344427G>C | CA67839061 | COL6A3 | c.236C>G c.6973C>G (p.Leu2325Val) c.7591C>G (p.Leu2531Val) c.5767C>G (p.Leu1923Val) c.5770C>G (p.Leu1924Val) n.1845C>G c.6991C>G (p.Leu2331Val) c.6370C>G (p.Leu2124Val) c.7090C>G (p.Leu2364Val) c.7588C>G (p.Leu2530Val) c.5185C>G (p.Leu1729Val) | dbSNP |
2 | g.237344427G= | CA1337610870 | COL6A3 | c.236C= c.6973C= (p.Leu2325=) c.7591C= (p.Leu2531=) c.5767C= (p.Leu1923=) c.5770C= (p.Leu1924=) n.1845C= c.6991C= (p.Leu2331=) c.6370C= (p.Leu2124=) c.7090C= (p.Leu2364=) c.7588C= (p.Leu2530=) c.5185C= (p.Leu1729=) | |
2 | g.237344427G>T | CA351201933 | COL6A3 | c.236C>A c.6973C>A (p.Leu2325Ile) c.7591C>A (p.Leu2531Ile) c.5767C>A (p.Leu1923Ile) c.5770C>A (p.Leu1924Ile) n.1845C>A c.6991C>A (p.Leu2331Ile) c.6370C>A (p.Leu2124Ile) c.7090C>A (p.Leu2364Ile) c.7588C>A (p.Leu2530Ile) c.5185C>A (p.Leu1729Ile) | |
2 | g.237344428C>A | CA431710297 | COL6A3 | c.235G>T c.6972G>T (p.Val2324=) c.7590G>T (p.Val2530=) c.5766G>T (p.Val1922=) c.5769G>T (p.Val1923=) n.1844G>T c.6990G>T (p.Val2330=) c.6369G>T (p.Val2123=) c.7089G>T (p.Val2363=) c.7587G>T (p.Val2529=) c.5184G>T (p.Val1728=) | |
2 | g.237344428C= | CA1337610871 | COL6A3 | c.235G= c.6972G= (p.Val2324=) c.7590G= (p.Val2530=) c.5766G= (p.Val1922=) c.5769G= (p.Val1923=) n.1844G= c.6990G= (p.Val2330=) c.6369G= (p.Val2123=) c.7089G= (p.Val2363=) c.7587G= (p.Val2529=) c.5184G= (p.Val1728=) | |
2 | g.237344428C>G | CA431710298 | COL6A3 | c.235G>C c.6972G>C (p.Val2324=) c.7590G>C (p.Val2530=) c.5766G>C (p.Val1922=) c.5769G>C (p.Val1923=) n.1844G>C c.6990G>C (p.Val2330=) c.6369G>C (p.Val2123=) c.7089G>C (p.Val2363=) c.7587G>C (p.Val2529=) c.5184G>C (p.Val1728=) | |
2 | g.237344428C>T | CA2187771 | COL6A3 | c.235G>A c.6972G>A (p.Val2324=) c.7590G>A (p.Val2530=) c.5766G>A (p.Val1922=) c.5769G>A (p.Val1923=) n.1844G>A c.6990G>A (p.Val2330=) c.6369G>A (p.Val2123=) c.7089G>A (p.Val2363=) c.7587G>A (p.Val2529=) c.5184G>A (p.Val1728=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237344429A= | CA1337610872 | COL6A3 | c.234T= c.6971T= (p.Val2324=) c.7589T= (p.Val2530=) c.5765T= (p.Val1922=) c.5768T= (p.Val1923=) n.1843T= c.6989T= (p.Val2330=) c.6368T= (p.Val2123=) c.7088T= (p.Val2363=) c.7586T= (p.Val2529=) c.5183T= (p.Val1728=) | |
2 | g.237344429A>C | CA351201946 | COL6A3 | c.234T>G c.6971T>G (p.Val2324Gly) c.7589T>G (p.Val2530Gly) c.5765T>G (p.Val1922Gly) c.5768T>G (p.Val1923Gly) n.1843T>G c.6989T>G (p.Val2330Gly) c.6368T>G (p.Val2123Gly) c.7088T>G (p.Val2363Gly) c.7586T>G (p.Val2529Gly) c.5183T>G (p.Val1728Gly) | dbSNP |
2 | g.237344429A>G | CA2187772 | COL6A3 | c.234T>C c.6971T>C (p.Val2324Ala) c.7589T>C (p.Val2530Ala) c.5765T>C (p.Val1922Ala) c.5768T>C (p.Val1923Ala) n.1843T>C c.6989T>C (p.Val2330Ala) c.6368T>C (p.Val2123Ala) c.7088T>C (p.Val2363Ala) c.7586T>C (p.Val2529Ala) c.5183T>C (p.Val1728Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237344429A>T | CA351201948 | COL6A3 | c.234T>A c.6971T>A (p.Val2324Glu) c.7589T>A (p.Val2530Glu) c.5765T>A (p.Val1922Glu) c.5768T>A (p.Val1923Glu) n.1843T>A c.6989T>A (p.Val2330Glu) c.6368T>A (p.Val2123Glu) c.7088T>A (p.Val2363Glu) c.7586T>A (p.Val2529Glu) c.5183T>A (p.Val1728Glu) | |
2 | g.237344430C>A | CA351201953 | COL6A3 | c.233G>T c.6970G>T (p.Val2324Leu) c.7588G>T (p.Val2530Leu) c.5764G>T (p.Val1922Leu) c.5767G>T (p.Val1923Leu) n.1842G>T c.6988G>T (p.Val2330Leu) c.6367G>T (p.Val2123Leu) c.7087G>T (p.Val2363Leu) c.7585G>T (p.Val2529Leu) c.5182G>T (p.Val1728Leu) | |
2 | g.237344430C>G | CA351201960 | COL6A3 | c.233G>C c.6970G>C (p.Val2324Leu) c.7588G>C (p.Val2530Leu) c.5764G>C (p.Val1922Leu) c.5767G>C (p.Val1923Leu) n.1842G>C c.6988G>C (p.Val2330Leu) c.6367G>C (p.Val2123Leu) c.7087G>C (p.Val2363Leu) c.7585G>C (p.Val2529Leu) c.5182G>C (p.Val1728Leu) | gnomAD v4 |
2 | g.237344430C>T | CA351201955 | COL6A3 | c.233G>A c.6970G>A (p.Val2324Met) c.7588G>A (p.Val2530Met) c.5764G>A (p.Val1922Met) c.5767G>A (p.Val1923Met) n.1842G>A c.6988G>A (p.Val2330Met) c.6367G>A (p.Val2123Met) c.7087G>A (p.Val2363Met) c.7585G>A (p.Val2529Met) c.5182G>A (p.Val1728Met) | |
2 | g.237344431A= | CA1337610873 | COL6A3 | c.232T= c.6969T= (p.Ala2323=) c.7587T= (p.Ala2529=) c.5763T= (p.Ala1921=) c.5766T= (p.Ala1922=) n.1841T= c.6987T= (p.Ala2329=) c.6366T= (p.Ala2122=) c.7086T= (p.Ala2362=) c.7584T= (p.Ala2528=) c.5181T= (p.Ala1727=) | |
2 | g.237344431A>C | CA431710299 | COL6A3 | c.232T>G c.6969T>G (p.Ala2323=) c.7587T>G (p.Ala2529=) c.5763T>G (p.Ala1921=) c.5766T>G (p.Ala1922=) n.1841T>G c.6987T>G (p.Ala2329=) c.6366T>G (p.Ala2122=) c.7086T>G (p.Ala2362=) c.7584T>G (p.Ala2528=) c.5181T>G (p.Ala1727=) | |
2 | g.237344431A>G | CA431710300 | COL6A3 | c.232T>C c.6969T>C (p.Ala2323=) c.7587T>C (p.Ala2529=) c.5763T>C (p.Ala1921=) c.5766T>C (p.Ala1922=) n.1841T>C c.6987T>C (p.Ala2329=) c.6366T>C (p.Ala2122=) c.7086T>C (p.Ala2362=) c.7584T>C (p.Ala2528=) c.5181T>C (p.Ala1727=) | ClinVar dbSNP |
2 | g.237344431A>T | CA431710301 | COL6A3 | c.232T>A c.6969T>A (p.Ala2323=) c.7587T>A (p.Ala2529=) c.5763T>A (p.Ala1921=) c.5766T>A (p.Ala1922=) n.1841T>A c.6987T>A (p.Ala2329=) c.6366T>A (p.Ala2122=) c.7086T>A (p.Ala2362=) c.7584T>A (p.Ala2528=) c.5181T>A (p.Ala1727=) |