Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.237359333_237360158delinsATTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATGCTTGGGTGGTCTTGGCTCCCTGGGCCGGCGGGGGTGGACCCCAAAACCCAGGGCAAGGAGCTGACTTTGTAACTTTGCAGCCCTTCCCTTCAGCACCTGCCTTCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGCCGTTCACACCAGGCGGACCACGCTCAC | CA1337617482 | COL6A3 | c.5594_5691+29delinsGTGAGCGTGGTCCGCCTGGTGTGAACGGCACTCAAGGTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGTGAGGCGTGGGTGATGGGGTTGCTAGCGTGGGGAGGGGTCAGGTGACTCGCAGTTTCTCCAGATGCTGCCAGGGAGGGAGGCGCTGGTCCAGGCTTCTTGACCTCAGCATTCAGCAGCCCGTGACCTCTCATTGGAAGGCAGTTCTGAGCAGGGTGGGTTCAGGAGCAGGGGCTGCAGCTGGTGGGGAGCCTGAGAATGGAGAAATAGTTTCCTGTGGAAACATGAAGAAGCCAGGAAACCCTCACAAGGAGAGAACATGGGCCAGGGCGGAGGGTAGGCTGGTGCCCACGGCCCCGGCCCTGGACCGTGGGAGCAGTCAGGGAAGGGAGTGGAGTGAGAGGACAGCAGGTGGGTTGAAGGCTGGTGAACTTGCTTCTCTGTTTGCTGAAGTTTGAAGGCAGGTGCTGAAGGGAAGGGCTGCAAAGTTACAAAGTCAGCTCCTTGCCCTGGGTTTTGGGGTCCACCCCCGCCGGCCCAGGGAGCCAAGACCACCCAAGCATTCAGTTCTAGTTTTAGTTTTAAAACATCGCACGTGGTGGTGAGAGAGGAATCCAAAGGGGTAGGACTCTAATATTACATTTTCAGACACTGCAACATTCAAATGGGGTGGAGTGGGGGAACAGCCCTTGGCCTCTTCTGCCCGAGGGACCAGCCCTGCAGGAAAAGCTAATGCTTCCCCTATCGCCTTGCCTTCTAGGGCTCTCGGGGATTCCCAGGAGAGAAGGTATGCAAGCTTGGTTTTGTTTTACAAAT c.6212_6309+29delinsGTGAGCGTGGTCCGCCTGGTGTGAACGGCACTCAAGGTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGTGAGGCGTGGGTGATGGGGTTGCTAGCGTGGGGAGGGGTCAGGTGACTCGCAGTTTCTCCAGATGCTGCCAGGGAGGGAGGCGCTGGTCCAGGCTTCTTGACCTCAGCATTCAGCAGCCCGTGACCTCTCATTGGAAGGCAGTTCTGAGCAGGGTGGGTTCAGGAGCAGGGGCTGCAGCTGGTGGGGAGCCTGAGAATGGAGAAATAGTTTCCTGTGGAAACATGAAGAAGCCAGGAAACCCTCACAAGGAGAGAACATGGGCCAGGGCGGAGGGTAGGCTGGTGCCCACGGCCCCGGCCCTGGACCGTGGGAGCAGTCAGGGAAGGGAGTGGAGTGAGAGGACAGCAGGTGGGTTGAAGGCTGGTGAACTTGCTTCTCTGTTTGCTGAAGTTTGAAGGCAGGTGCTGAAGGGAAGGGCTGCAAAGTTACAAAGTCAGCTCCTTGCCCTGGGTTTTGGGGTCCACCCCCGCCGGCCCAGGGAGCCAAGACCACCCAAGCATTCAGTTCTAGTTTTAGTTTTAAAACATCGCACGTGGTGGTGAGAGAGGAATCCAAAGGGGTAGGACTCTAATATTACATTTTCAGACACTGCAACATTCAAATGGGGTGGAGTGGGGGAACAGCCCTTGGCCTCTTCTGCCCGAGGGACCAGCCCTGCAGGAAAAGCTAATGCTTCCCCTATCGCCTTGCCTTCTAGGGCTCTCGGGGATTCCCAGGAGAGAAGGTATGCAAGCTTGGTTTTGTTTTACAAAT c.4391_4488+29delinsGTGAGCGTGGTCCGCCTGGTGTGAACGGCACTCAAGGTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGTGAGGCGTGGGTGATGGGGTTGCTAGCGTGGGGAGGGGTCAGGTGACTCGCAGTTTCTCCAGATGCTGCCAGGGAGGGAGGCGCTGGTCCAGGCTTCTTGACCTCAGCATTCAGCAGCCCGTGACCTCTCATTGGAAGGCAGTTCTGAGCAGGGTGGGTTCAGGAGCAGGGGCTGCAGCTGGTGGGGAGCCTGAGAATGGAGAAATAGTTTCCTGTGGAAACATGAAGAAGCCAGGAAACCCTCACAAGGAGAGAACATGGGCCAGGGCGGAGGGTAGGCTGGTGCCCACGGCCCCGGCCCTGGACCGTGGGAGCAGTCAGGGAAGGGAGTGGAGTGAGAGGACAGCAGGTGGGTTGAAGGCTGGTGAACTTGCTTCTCTGTTTGCTGAAGTTTGAAGGCAGGTGCTGAAGGGAAGGGCTGCAAAGTTACAAAGTCAGCTCCTTGCCCTGGGTTTTGGGGTCCACCCCCGCCGGCCCAGGGAGCCAAGACCACCCAAGCATTCAGTTCTAGTTTTAGTTTTAAAACATCGCACGTGGTGGTGAGAGAGGAATCCAAAGGGGTAGGACTCTAATATTACATTTTCAGACACTGCAACATTCAAATGGGGTGGAGTGGGGGAACAGCCCTTGGCCTCTTCTGCCCGAGGGACCAGCCCTGCAGGAAAAGCTAATGCTTCCCCTATCGCCTTGCCTTCTAGGGCTCTCGGGGATTCCCAGGAGAGAAGGTATGCAAGCTTGGTTTTGTTTTACAAAT c.5612_5709+29delinsGTGAGCGTGGTCCGCCTGGTGTGAACGGCACTCAAGGTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGTGAGGCGTGGGTGATGGGGTTGCTAGCGTGGGGAGGGGTCAGGTGACTCGCAGTTTCTCCAGATGCTGCCAGGGAGGGAGGCGCTGGTCCAGGCTTCTTGACCTCAGCATTCAGCAGCCCGTGACCTCTCATTGGAAGGCAGTTCTGAGCAGGGTGGGTTCAGGAGCAGGGGCTGCAGCTGGTGGGGAGCCTGAGAATGGAGAAATAGTTTCCTGTGGAAACATGAAGAAGCCAGGAAACCCTCACAAGGAGAGAACATGGGCCAGGGCGGAGGGTAGGCTGGTGCCCACGGCCCCGGCCCTGGACCGTGGGAGCAGTCAGGGAAGGGAGTGGAGTGAGAGGACAGCAGGTGGGTTGAAGGCTGGTGAACTTGCTTCTCTGTTTGCTGAAGTTTGAAGGCAGGTGCTGAAGGGAAGGGCTGCAAAGTTACAAAGTCAGCTCCTTGCCCTGGGTTTTGGGGTCCACCCCCGCCGGCCCAGGGAGCCAAGACCACCCAAGCATTCAGTTCTAGTTTTAGTTTTAAAACATCGCACGTGGTGGTGAGAGAGGAATCCAAAGGGGTAGGACTCTAATATTACATTTTCAGACACTGCAACATTCAAATGGGGTGGAGTGGGGGAACAGCCCTTGGCCTCTTCTGCCCGAGGGACCAGCCCTGCAGGAAAAGCTAATGCTTCCCCTATCGCCTTGCCTTCTAGGGCTCTCGGGGATTCCCAGGAGAGAAGGTATGCAAGCTTGGTTTTGTTTTACAAAT c.4991_5088+29delinsGTGAGCGTGGTCCGCCTGGTGTGAACGGCACTCAAGGTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGTGAGGCGTGGGTGATGGGGTTGCTAGCGTGGGGAGGGGTCAGGTGACTCGCAGTTTCTCCAGATGCTGCCAGGGAGGGAGGCGCTGGTCCAGGCTTCTTGACCTCAGCATTCAGCAGCCCGTGACCTCTCATTGGAAGGCAGTTCTGAGCAGGGTGGGTTCAGGAGCAGGGGCTGCAGCTGGTGGGGAGCCTGAGAATGGAGAAATAGTTTCCTGTGGAAACATGAAGAAGCCAGGAAACCCTCACAAGGAGAGAACATGGGCCAGGGCGGAGGGTAGGCTGGTGCCCACGGCCCCGGCCCTGGACCGTGGGAGCAGTCAGGGAAGGGAGTGGAGTGAGAGGACAGCAGGTGGGTTGAAGGCTGGTGAACTTGCTTCTCTGTTTGCTGAAGTTTGAAGGCAGGTGCTGAAGGGAAGGGCTGCAAAGTTACAAAGTCAGCTCCTTGCCCTGGGTTTTGGGGTCCACCCCCGCCGGCCCAGGGAGCCAAGACCACCCAAGCATTCAGTTCTAGTTTTAGTTTTAAAACATCGCACGTGGTGGTGAGAGAGGAATCCAAAGGGGTAGGACTCTAATATTACATTTTCAGACACTGCAACATTCAAATGGGGTGGAGTGGGGGAACAGCCCTTGGCCTCTTCTGCCCGAGGGACCAGCCCTGCAGGAAAAGCTAATGCTTCCCCTATCGCCTTGCCTTCTAGGGCTCTCGGGGATTCCCAGGAGAGAAGGTATGCAAGCTTGGTTTTGTTTTACAAAT c.5711_5808+29delinsGTGAGCGTGGTCCGCCTGGTGTGAACGGCACTCAAGGTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGTGAGGCGTGGGTGATGGGGTTGCTAGCGTGGGGAGGGGTCAGGTGACTCGCAGTTTCTCCAGATGCTGCCAGGGAGGGAGGCGCTGGTCCAGGCTTCTTGACCTCAGCATTCAGCAGCCCGTGACCTCTCATTGGAAGGCAGTTCTGAGCAGGGTGGGTTCAGGAGCAGGGGCTGCAGCTGGTGGGGAGCCTGAGAATGGAGAAATAGTTTCCTGTGGAAACATGAAGAAGCCAGGAAACCCTCACAAGGAGAGAACATGGGCCAGGGCGGAGGGTAGGCTGGTGCCCACGGCCCCGGCCCTGGACCGTGGGAGCAGTCAGGGAAGGGAGTGGAGTGAGAGGACAGCAGGTGGGTTGAAGGCTGGTGAACTTGCTTCTCTGTTTGCTGAAGTTTGAAGGCAGGTGCTGAAGGGAAGGGCTGCAAAGTTACAAAGTCAGCTCCTTGCCCTGGGTTTTGGGGTCCACCCCCGCCGGCCCAGGGAGCCAAGACCACCCAAGCATTCAGTTCTAGTTTTAGTTTTAAAACATCGCACGTGGTGGTGAGAGAGGAATCCAAAGGGGTAGGACTCTAATATTACATTTTCAGACACTGCAACATTCAAATGGGGTGGAGTGGGGGAACAGCCCTTGGCCTCTTCTGCCCGAGGGACCAGCCCTGCAGGAAAAGCTAATGCTTCCCCTATCGCCTTGCCTTCTAGGGCTCTCGGGGATTCCCAGGAGAGAAGGTATGCAAGCTTGGTTTTGTTTTACAAAT c.6209_6306+29delinsGTGAGCGTGGTCCGCCTGGTGTGAACGGCACTCAAGGTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGTGAGGCGTGGGTGATGGGGTTGCTAGCGTGGGGAGGGGTCAGGTGACTCGCAGTTTCTCCAGATGCTGCCAGGGAGGGAGGCGCTGGTCCAGGCTTCTTGACCTCAGCATTCAGCAGCCCGTGACCTCTCATTGGAAGGCAGTTCTGAGCAGGGTGGGTTCAGGAGCAGGGGCTGCAGCTGGTGGGGAGCCTGAGAATGGAGAAATAGTTTCCTGTGGAAACATGAAGAAGCCAGGAAACCCTCACAAGGAGAGAACATGGGCCAGGGCGGAGGGTAGGCTGGTGCCCACGGCCCCGGCCCTGGACCGTGGGAGCAGTCAGGGAAGGGAGTGGAGTGAGAGGACAGCAGGTGGGTTGAAGGCTGGTGAACTTGCTTCTCTGTTTGCTGAAGTTTGAAGGCAGGTGCTGAAGGGAAGGGCTGCAAAGTTACAAAGTCAGCTCCTTGCCCTGGGTTTTGGGGTCCACCCCCGCCGGCCCAGGGAGCCAAGACCACCCAAGCATTCAGTTCTAGTTTTAGTTTTAAAACATCGCACGTGGTGGTGAGAGAGGAATCCAAAGGGGTAGGACTCTAATATTACATTTTCAGACACTGCAACATTCAAATGGGGTGGAGTGGGGGAACAGCCCTTGGCCTCTTCTGCCCGAGGGACCAGCCCTGCAGGAAAAGCTAATGCTTCCCCTATCGCCTTGCCTTCTAGGGCTCTCGGGGATTCCCAGGAGAGAAGGTATGCAAGCTTGGTTTTGTTTTACAAAT c.3806_3903+29delinsGTGAGCGTGGTCCGCCTGGTGTGAACGGCACTCAAGGTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGTGAGGCGTGGGTGATGGGGTTGCTAGCGTGGGGAGGGGTCAGGTGACTCGCAGTTTCTCCAGATGCTGCCAGGGAGGGAGGCGCTGGTCCAGGCTTCTTGACCTCAGCATTCAGCAGCCCGTGACCTCTCATTGGAAGGCAGTTCTGAGCAGGGTGGGTTCAGGAGCAGGGGCTGCAGCTGGTGGGGAGCCTGAGAATGGAGAAATAGTTTCCTGTGGAAACATGAAGAAGCCAGGAAACCCTCACAAGGAGAGAACATGGGCCAGGGCGGAGGGTAGGCTGGTGCCCACGGCCCCGGCCCTGGACCGTGGGAGCAGTCAGGGAAGGGAGTGGAGTGAGAGGACAGCAGGTGGGTTGAAGGCTGGTGAACTTGCTTCTCTGTTTGCTGAAGTTTGAAGGCAGGTGCTGAAGGGAAGGGCTGCAAAGTTACAAAGTCAGCTCCTTGCCCTGGGTTTTGGGGTCCACCCCCGCCGGCCCAGGGAGCCAAGACCACCCAAGCATTCAGTTCTAGTTTTAGTTTTAAAACATCGCACGTGGTGGTGAGAGAGGAATCCAAAGGGGTAGGACTCTAATATTACATTTTCAGACACTGCAACATTCAAATGGGGTGGAGTGGGGGAACAGCCCTTGGCCTCTTCTGCCCGAGGGACCAGCCCTGCAGGAAAAGCTAATGCTTCCCCTATCGCCTTGCCTTCTAGGGCTCTCGGGGATTCCCAGGAGAGAAGGTATGCAAGCTTGGTTTTGTTTTACAAAT | |
2 | g.237359334_237360158del | CA658796209 | COL6A3 | c.5594_5691+28del c.6212_6309+28del c.4391_4488+28del c.5612_5709+28del c.4991_5088+28del c.5711_5808+28del c.6209_6306+28del c.3806_3903+28del | ClinVar dbSNP |
2 | g.237360131C>A | CA351216628 | COL6A3 | c.5621G>T (p.Gly1874Val) c.6239G>T (p.Gly2080Val) c.4418G>T (p.Gly1473Val) c.5639G>T (p.Gly1880Val) c.5018G>T (p.Gly1673Val) c.5738G>T (p.Gly1913Val) c.6236G>T (p.Gly2079Val) c.3833G>T (p.Gly1278Val) | ClinVar dbSNP |
2 | g.237360131C= | CA1337617822 | COL6A3 | c.5621G= (p.Gly1874=) c.6239G= (p.Gly2080=) c.4418G= (p.Gly1473=) c.5639G= (p.Gly1880=) c.5018G= (p.Gly1673=) c.5738G= (p.Gly1913=) c.6236G= (p.Gly2079=) c.3833G= (p.Gly1278=) | |
2 | g.237360131C>G | CA351216630 | COL6A3 | c.5621G>C (p.Gly1874Ala) c.6239G>C (p.Gly2080Ala) c.4418G>C (p.Gly1473Ala) c.5639G>C (p.Gly1880Ala) c.5018G>C (p.Gly1673Ala) c.5738G>C (p.Gly1913Ala) c.6236G>C (p.Gly2079Ala) c.3833G>C (p.Gly1278Ala) | |
2 | g.237360131C>T | CA275040 | COL6A3 | c.5621G>A (p.Gly1874Asp) c.6239G>A (p.Gly2080Asp) c.4418G>A (p.Gly1473Asp) c.5639G>A (p.Gly1880Asp) c.5018G>A (p.Gly1673Asp) c.5738G>A (p.Gly1913Asp) c.6236G>A (p.Gly2079Asp) c.3833G>A (p.Gly1278Asp) | ClinVar dbSNP |
2 | g.237360132C>A | CA351216633 | COL6A3 | c.5620G>T (p.Gly1874Cys) c.6238G>T (p.Gly2080Cys) c.4417G>T (p.Gly1473Cys) c.5638G>T (p.Gly1880Cys) c.5017G>T (p.Gly1673Cys) c.5737G>T (p.Gly1913Cys) c.6235G>T (p.Gly2079Cys) c.3832G>T (p.Gly1278Cys) | |
2 | g.237360132C= | CA1337617823 | COL6A3 | c.5620G= (p.Gly1874=) c.6238G= (p.Gly2080=) c.4417G= (p.Gly1473=) c.5638G= (p.Gly1880=) c.5017G= (p.Gly1673=) c.5737G= (p.Gly1913=) c.6235G= (p.Gly2079=) c.3832G= (p.Gly1278=) | |
2 | g.237360132C>G | CA351216634 | COL6A3 | c.5620G>C (p.Gly1874Arg) c.6238G>C (p.Gly2080Arg) c.4417G>C (p.Gly1473Arg) c.5638G>C (p.Gly1880Arg) c.5017G>C (p.Gly1673Arg) c.5737G>C (p.Gly1913Arg) c.6235G>C (p.Gly2079Arg) c.3832G>C (p.Gly1278Arg) | ClinVar dbSNP |
2 | g.237360132C>T | CA351216635 | COL6A3 | c.5620G>A (p.Gly1874Ser) c.6238G>A (p.Gly2080Ser) c.4417G>A (p.Gly1473Ser) c.5638G>A (p.Gly1880Ser) c.5017G>A (p.Gly1673Ser) c.5737G>A (p.Gly1913Ser) c.6235G>A (p.Gly2079Ser) c.3832G>A (p.Gly1278Ser) | ClinVar dbSNP COSMIC |
2 | g.237360133G>A | CA2188393 | COL6A3 | c.5619C>T (p.Asn1873=) c.6237C>T (p.Asn2079=) c.4416C>T (p.Asn1472=) c.5637C>T (p.Asn1879=) c.5016C>T (p.Asn1672=) c.5736C>T (p.Asn1912=) c.6234C>T (p.Asn2078=) c.3831C>T (p.Asn1277=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237360133G>C | CA351216637 | COL6A3 | c.5619C>G (p.Asn1873Lys) c.6237C>G (p.Asn2079Lys) c.4416C>G (p.Asn1472Lys) c.5637C>G (p.Asn1879Lys) c.5016C>G (p.Asn1672Lys) c.5736C>G (p.Asn1912Lys) c.6234C>G (p.Asn2078Lys) c.3831C>G (p.Asn1277Lys) | |
2 | g.237360133G= | CA1337617824 | COL6A3 | c.5619C= (p.Asn1873=) c.6237C= (p.Asn2079=) c.4416C= (p.Asn1472=) c.5637C= (p.Asn1879=) c.5016C= (p.Asn1672=) c.5736C= (p.Asn1912=) c.6234C= (p.Asn2078=) c.3831C= (p.Asn1277=) | |
2 | g.237360133G>T | CA351216636 | COL6A3 | c.5619C>A (p.Asn1873Lys) c.6237C>A (p.Asn2079Lys) c.4416C>A (p.Asn1472Lys) c.5637C>A (p.Asn1879Lys) c.5016C>A (p.Asn1672Lys) c.5736C>A (p.Asn1912Lys) c.6234C>A (p.Asn2078Lys) c.3831C>A (p.Asn1277Lys) | |
2 | g.237360134T>A | CA351216639 | COL6A3 | c.5618A>T (p.Asn1873Ile) c.6236A>T (p.Asn2079Ile) c.4415A>T (p.Asn1472Ile) c.5636A>T (p.Asn1879Ile) c.5015A>T (p.Asn1672Ile) c.5735A>T (p.Asn1912Ile) c.6233A>T (p.Asn2078Ile) c.3830A>T (p.Asn1277Ile) | |
2 | g.237360134T>C | CA351216641 | COL6A3 | c.5618A>G (p.Asn1873Ser) c.6236A>G (p.Asn2079Ser) c.4415A>G (p.Asn1472Ser) c.5636A>G (p.Asn1879Ser) c.5015A>G (p.Asn1672Ser) c.5735A>G (p.Asn1912Ser) c.6233A>G (p.Asn2078Ser) c.3830A>G (p.Asn1277Ser) | ClinVar |
2 | g.237360134T>G | CA351216644 | COL6A3 | c.5618A>C (p.Asn1873Thr) c.6236A>C (p.Asn2079Thr) c.4415A>C (p.Asn1472Thr) c.5636A>C (p.Asn1879Thr) c.5015A>C (p.Asn1672Thr) c.5735A>C (p.Asn1912Thr) c.6233A>C (p.Asn2078Thr) c.3830A>C (p.Asn1277Thr) | |
2 | g.237360135T>A | CA351216647 | COL6A3 | c.5617A>T (p.Asn1873Tyr) c.6235A>T (p.Asn2079Tyr) c.4414A>T (p.Asn1472Tyr) c.5635A>T (p.Asn1879Tyr) c.5014A>T (p.Asn1672Tyr) c.5734A>T (p.Asn1912Tyr) c.6232A>T (p.Asn2078Tyr) c.3829A>T (p.Asn1277Tyr) | ClinVar dbSNP |
2 | g.237360135T>C | CA351216648 | COL6A3 | c.5617A>G (p.Asn1873Asp) c.6235A>G (p.Asn2079Asp) c.4414A>G (p.Asn1472Asp) c.5635A>G (p.Asn1879Asp) c.5014A>G (p.Asn1672Asp) c.5734A>G (p.Asn1912Asp) c.6232A>G (p.Asn2078Asp) c.3829A>G (p.Asn1277Asp) | |
2 | g.237360135T>G | CA351216650 | COL6A3 | c.5617A>C (p.Asn1873His) c.6235A>C (p.Asn2079His) c.4414A>C (p.Asn1472His) c.5635A>C (p.Asn1879His) c.5014A>C (p.Asn1672His) c.5734A>C (p.Asn1912His) c.6232A>C (p.Asn2078His) c.3829A>C (p.Asn1277His) | |
2 | g.237360136C>A | CA431678465 | COL6A3 | c.5616G>T (p.Val1872=) c.6234G>T (p.Val2078=) c.4413G>T (p.Val1471=) c.5634G>T (p.Val1878=) c.5013G>T (p.Val1671=) c.5733G>T (p.Val1911=) c.6231G>T (p.Val2077=) c.3828G>T (p.Val1276=) | gnomAD v4 |
2 | g.237360136C= | CA1337617825 | COL6A3 | c.5616G= (p.Val1872=) c.6234G= (p.Val2078=) c.4413G= (p.Val1471=) c.5634G= (p.Val1878=) c.5013G= (p.Val1671=) c.5733G= (p.Val1911=) c.6231G= (p.Val2077=) c.3828G= (p.Val1276=) | |
2 | g.237360136C>G | CA431678466 | COL6A3 | c.5616G>C (p.Val1872=) c.6234G>C (p.Val2078=) c.4413G>C (p.Val1471=) c.5634G>C (p.Val1878=) c.5013G>C (p.Val1671=) c.5733G>C (p.Val1911=) c.6231G>C (p.Val2077=) c.3828G>C (p.Val1276=) | COSMIC |
2 | g.237360136C>T | CA2188394 | COL6A3 | c.5616G>A (p.Val1872=) c.6234G>A (p.Val2078=) c.4413G>A (p.Val1471=) c.5634G>A (p.Val1878=) c.5013G>A (p.Val1671=) c.5733G>A (p.Val1911=) c.6231G>A (p.Val2077=) c.3828G>A (p.Val1276=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237360137A>C | CA351216654 | COL6A3 | c.5615T>G (p.Val1872Gly) c.6233T>G (p.Val2078Gly) c.4412T>G (p.Val1471Gly) c.5633T>G (p.Val1878Gly) c.5012T>G (p.Val1671Gly) c.5732T>G (p.Val1911Gly) c.6230T>G (p.Val2077Gly) c.3827T>G (p.Val1276Gly) | |
2 | g.237360137A>G | CA351216657 | COL6A3 | c.5615T>C (p.Val1872Ala) c.6233T>C (p.Val2078Ala) c.4412T>C (p.Val1471Ala) c.5633T>C (p.Val1878Ala) c.5012T>C (p.Val1671Ala) c.5732T>C (p.Val1911Ala) c.6230T>C (p.Val2077Ala) c.3827T>C (p.Val1276Ala) | |
2 | g.237360137A>T | CA351216658 | COL6A3 | c.5615T>A (p.Val1872Glu) c.6233T>A (p.Val2078Glu) c.4412T>A (p.Val1471Glu) c.5633T>A (p.Val1878Glu) c.5012T>A (p.Val1671Glu) c.5732T>A (p.Val1911Glu) c.6230T>A (p.Val2077Glu) c.3827T>A (p.Val1276Glu) | |
2 | g.237360138C>A | CA351216661 | COL6A3 | c.5614G>T (p.Val1872Leu) c.6232G>T (p.Val2078Leu) c.4411G>T (p.Val1471Leu) c.5632G>T (p.Val1878Leu) c.5011G>T (p.Val1671Leu) c.5731G>T (p.Val1911Leu) c.6229G>T (p.Val2077Leu) c.3826G>T (p.Val1276Leu) | |
2 | g.237360138C>G | CA351216663 | COL6A3 | c.5614G>C (p.Val1872Leu) c.6232G>C (p.Val2078Leu) c.4411G>C (p.Val1471Leu) c.5632G>C (p.Val1878Leu) c.5011G>C (p.Val1671Leu) c.5731G>C (p.Val1911Leu) c.6229G>C (p.Val2077Leu) c.3826G>C (p.Val1276Leu) | ClinVar dbSNP |
2 | g.237360138C>T | CA351216664 | COL6A3 | c.5614G>A (p.Val1872Met) c.6232G>A (p.Val2078Met) c.4411G>A (p.Val1471Met) c.5632G>A (p.Val1878Met) c.5011G>A (p.Val1671Met) c.5731G>A (p.Val1911Met) c.6229G>A (p.Val2077Met) c.3826G>A (p.Val1276Met) | ClinVar |
2 | g.237360139A>C | CA431678467 | COL6A3 | c.5613T>G (p.Gly1871=) c.6231T>G (p.Gly2077=) c.4410T>G (p.Gly1470=) c.5631T>G (p.Gly1877=) c.5010T>G (p.Gly1670=) c.5730T>G (p.Gly1910=) c.6228T>G (p.Gly2076=) c.3825T>G (p.Gly1275=) | |
2 | g.237360139A>G | CA431678469 | COL6A3 | c.5613T>C (p.Gly1871=) c.6231T>C (p.Gly2077=) c.4410T>C (p.Gly1470=) c.5631T>C (p.Gly1877=) c.5010T>C (p.Gly1670=) c.5730T>C (p.Gly1910=) c.6228T>C (p.Gly2076=) c.3825T>C (p.Gly1275=) | gnomAD v4 |
2 | g.237360139A>T | CA431678468 | COL6A3 | c.5613T>A (p.Gly1871=) c.6231T>A (p.Gly2077=) c.4410T>A (p.Gly1470=) c.5631T>A (p.Gly1877=) c.5010T>A (p.Gly1670=) c.5730T>A (p.Gly1910=) c.6228T>A (p.Gly2076=) c.3825T>A (p.Gly1275=) | COSMIC |
2 | g.237360140C>A | CA351216678 | COL6A3 | c.5612G>T (p.Gly1871Val) c.6230G>T (p.Gly2077Val) c.4409G>T (p.Gly1470Val) c.5630G>T (p.Gly1877Val) c.5009G>T (p.Gly1670Val) c.5729G>T (p.Gly1910Val) c.6227G>T (p.Gly2076Val) c.3824G>T (p.Gly1275Val) | ClinVar dbSNP |
2 | g.237360140C= | CA1337617826 | COL6A3 | c.5612G= (p.Gly1871=) c.6230G= (p.Gly2077=) c.4409G= (p.Gly1470=) c.5630G= (p.Gly1877=) c.5009G= (p.Gly1670=) c.5729G= (p.Gly1910=) c.6227G= (p.Gly2076=) c.3824G= (p.Gly1275=) | |
2 | g.237360140C>G | CA351216673 | COL6A3 | c.5612G>C (p.Gly1871Ala) c.6230G>C (p.Gly2077Ala) c.4409G>C (p.Gly1470Ala) c.5630G>C (p.Gly1877Ala) c.5009G>C (p.Gly1670Ala) c.5729G>C (p.Gly1910Ala) c.6227G>C (p.Gly2076Ala) c.3824G>C (p.Gly1275Ala) | dbSNP |
2 | g.237360140C>T | CA351216671 | COL6A3 | c.5612G>A (p.Gly1871Asp) c.6230G>A (p.Gly2077Asp) c.4409G>A (p.Gly1470Asp) c.5630G>A (p.Gly1877Asp) c.5009G>A (p.Gly1670Asp) c.5729G>A (p.Gly1910Asp) c.6227G>A (p.Gly2076Asp) c.3824G>A (p.Gly1275Asp) | ClinVar dbSNP |
2 | g.237360141C>A | CA351216679 | COL6A3 | c.5611G>T (p.Gly1871Cys) c.6229G>T (p.Gly2077Cys) c.4408G>T (p.Gly1470Cys) c.5629G>T (p.Gly1877Cys) c.5008G>T (p.Gly1670Cys) c.5728G>T (p.Gly1910Cys) c.6226G>T (p.Gly2076Cys) c.3823G>T (p.Gly1275Cys) | |
2 | g.237360141C>G | CA351216681 | COL6A3 | c.5611G>C (p.Gly1871Arg) c.6229G>C (p.Gly2077Arg) c.4408G>C (p.Gly1470Arg) c.5629G>C (p.Gly1877Arg) c.5008G>C (p.Gly1670Arg) c.5728G>C (p.Gly1910Arg) c.6226G>C (p.Gly2076Arg) c.3823G>C (p.Gly1275Arg) | |
2 | g.237360141C>T | CA351216682 | COL6A3 | c.5611G>A (p.Gly1871Ser) c.6229G>A (p.Gly2077Ser) c.4408G>A (p.Gly1470Ser) c.5629G>A (p.Gly1877Ser) c.5008G>A (p.Gly1670Ser) c.5728G>A (p.Gly1910Ser) c.6226G>A (p.Gly2076Ser) c.3823G>A (p.Gly1275Ser) | |
2 | g.237360142A>C | CA431678472 | COL6A3 | c.5610T>G (p.Pro1870=) c.6228T>G (p.Pro2076=) c.4407T>G (p.Pro1469=) c.5628T>G (p.Pro1876=) c.5007T>G (p.Pro1669=) c.5727T>G (p.Pro1909=) c.6225T>G (p.Pro2075=) c.3822T>G (p.Pro1274=) | |
2 | g.237360142A>G | CA431678470 | COL6A3 | c.5610T>C (p.Pro1870=) c.6228T>C (p.Pro2076=) c.4407T>C (p.Pro1469=) c.5628T>C (p.Pro1876=) c.5007T>C (p.Pro1669=) c.5727T>C (p.Pro1909=) c.6225T>C (p.Pro2075=) c.3822T>C (p.Pro1274=) | |
2 | g.237360142A>T | CA431678471 | COL6A3 | c.5610T>A (p.Pro1870=) c.6228T>A (p.Pro2076=) c.4407T>A (p.Pro1469=) c.5628T>A (p.Pro1876=) c.5007T>A (p.Pro1669=) c.5727T>A (p.Pro1909=) c.6225T>A (p.Pro2075=) c.3822T>A (p.Pro1274=) | |
2 | g.237360143G>A | CA351216685 | COL6A3 | c.5609C>T (p.Pro1870Leu) c.6227C>T (p.Pro2076Leu) c.4406C>T (p.Pro1469Leu) c.5627C>T (p.Pro1876Leu) c.5006C>T (p.Pro1669Leu) c.5726C>T (p.Pro1909Leu) c.6224C>T (p.Pro2075Leu) c.3821C>T (p.Pro1274Leu) | |
2 | g.237360143G>C | CA351216688 | COL6A3 | c.5609C>G (p.Pro1870Arg) c.6227C>G (p.Pro2076Arg) c.4406C>G (p.Pro1469Arg) c.5627C>G (p.Pro1876Arg) c.5006C>G (p.Pro1669Arg) c.5726C>G (p.Pro1909Arg) c.6224C>G (p.Pro2075Arg) c.3821C>G (p.Pro1274Arg) | gnomAD v4 |
2 | g.237360143G>T | CA351216690 | COL6A3 | c.5609C>A (p.Pro1870His) c.6227C>A (p.Pro2076His) c.4406C>A (p.Pro1469His) c.5627C>A (p.Pro1876His) c.5006C>A (p.Pro1669His) c.5726C>A (p.Pro1909His) c.6224C>A (p.Pro2075His) c.3821C>A (p.Pro1274His) | |
2 | g.237360144G>A | CA351216692 | COL6A3 | c.5608C>T (p.Pro1870Ser) c.6226C>T (p.Pro2076Ser) c.4405C>T (p.Pro1469Ser) c.5626C>T (p.Pro1876Ser) c.5005C>T (p.Pro1669Ser) c.5725C>T (p.Pro1909Ser) c.6223C>T (p.Pro2075Ser) c.3820C>T (p.Pro1274Ser) | |
2 | g.237360144G>C | CA351216697 | COL6A3 | c.5608C>G (p.Pro1870Ala) c.6226C>G (p.Pro2076Ala) c.4405C>G (p.Pro1469Ala) c.5626C>G (p.Pro1876Ala) c.5005C>G (p.Pro1669Ala) c.5725C>G (p.Pro1909Ala) c.6223C>G (p.Pro2075Ala) c.3820C>G (p.Pro1274Ala) | |
2 | g.237360144G>T | CA351216698 | COL6A3 | c.5608C>A (p.Pro1870Thr) c.6226C>A (p.Pro2076Thr) c.4405C>A (p.Pro1469Thr) c.5626C>A (p.Pro1876Thr) c.5005C>A (p.Pro1669Thr) c.5725C>A (p.Pro1909Thr) c.6223C>A (p.Pro2075Thr) c.3820C>A (p.Pro1274Thr) | |
2 | g.237360144_237360155delinsGCGGACCACGCT | CA1337617827 | COL6A3 | c.5597_5608delinsAGCGTGGTCCGC (p.Glu1866=) c.6215_6226delinsAGCGTGGTCCGC (p.Glu2072=) c.4394_4405delinsAGCGTGGTCCGC (p.Glu1465=) c.5615_5626delinsAGCGTGGTCCGC (p.Glu1872=) c.4994_5005delinsAGCGTGGTCCGC (p.Glu1665=) c.5714_5725delinsAGCGTGGTCCGC (p.Glu1905=) c.6212_6223delinsAGCGTGGTCCGC (p.Glu2071=) c.3809_3820delinsAGCGTGGTCCGC (p.Glu1270=) |