UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.237360038G>A | CA147991 | COL6A3 | c.5664+50C>T (n.5664+50C>T) c.6282+50C>T (n.6282+50C>T) c.4461+50C>T (n.4461+50C>T) c.5682+50C>T (n.5682+50C>T) c.5061+50C>T (n.5061+50C>T) c.5781+50C>T (n.5781+50C>T) c.6279+50C>T (n.6279+50C>T) c.3876+50C>T (n.3876+50C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360038G>C | CA2581842824 | COL6A3 | c.5664+50C>G (n.5664+50C>G) c.6282+50C>G (n.6282+50C>G) c.4461+50C>G (n.4461+50C>G) c.5682+50C>G (n.5682+50C>G) c.5061+50C>G (n.5061+50C>G) c.5781+50C>G (n.5781+50C>G) c.6279+50C>G (n.6279+50C>G) c.3876+50C>G (n.3876+50C>G) | |
| 2 | g.237360038G= | CA1337617785 | COL6A3 | c.5664+50C= (n.5664+50C=) c.6282+50C= (n.6282+50C=) c.4461+50C= (n.4461+50C=) c.5682+50C= (n.5682+50C=) c.5061+50C= (n.5061+50C=) c.5781+50C= (n.5781+50C=) c.6279+50C= (n.6279+50C=) c.3876+50C= (n.3876+50C=) | |
| 2 | g.237360038G>T | CA2581842825 | COL6A3 | c.5664+50C>A (n.5664+50C>A) c.6282+50C>A (n.6282+50C>A) c.4461+50C>A (n.4461+50C>A) c.5682+50C>A (n.5682+50C>A) c.5061+50C>A (n.5061+50C>A) c.5781+50C>A (n.5781+50C>A) c.6279+50C>A (n.6279+50C>A) c.3876+50C>A (n.3876+50C>A) | |
| 2 | g.237360039A>G | CA2663795018 | COL6A3 | c.5664+49T>C (n.5664+49T>C) c.6282+49T>C (n.6282+49T>C) c.4461+49T>C (n.4461+49T>C) c.5682+49T>C (n.5682+49T>C) c.5061+49T>C (n.5061+49T>C) c.5781+49T>C (n.5781+49T>C) c.6279+49T>C (n.6279+49T>C) c.3876+49T>C (n.3876+49T>C) | gnomAD v4 |
| 2 | g.237360040G>A | CA2188375 | COL6A3 | c.5664+48C>T (n.5664+48C>T) c.6282+48C>T (n.6282+48C>T) c.4461+48C>T (n.4461+48C>T) c.5682+48C>T (n.5682+48C>T) c.5061+48C>T (n.5061+48C>T) c.5781+48C>T (n.5781+48C>T) c.6279+48C>T (n.6279+48C>T) c.3876+48C>T (n.3876+48C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.237360040G= | CA1337617786 | COL6A3 | c.5664+48C= (n.5664+48C=) c.6282+48C= (n.6282+48C=) c.4461+48C= (n.4461+48C=) c.5682+48C= (n.5682+48C=) c.5061+48C= (n.5061+48C=) c.5781+48C= (n.5781+48C=) c.6279+48C= (n.6279+48C=) c.3876+48C= (n.3876+48C=) | |
| 2 | g.237360040G>T | CA2663795019 | COL6A3 | c.5664+48C>A (n.5664+48C>A) c.6282+48C>A (n.6282+48C>A) c.4461+48C>A (n.4461+48C>A) c.5682+48C>A (n.5682+48C>A) c.5061+48C>A (n.5061+48C>A) c.5781+48C>A (n.5781+48C>A) c.6279+48C>A (n.6279+48C>A) c.3876+48C>A (n.3876+48C>A) | gnomAD v4 |
| 2 | g.237360042C>A | CA2527232175 | COL6A3 | c.5664+46G>T (n.5664+46G>T) c.6282+46G>T (n.6282+46G>T) c.4461+46G>T (n.4461+46G>T) c.5682+46G>T (n.5682+46G>T) c.5061+46G>T (n.5061+46G>T) c.5781+46G>T (n.5781+46G>T) c.6279+46G>T (n.6279+46G>T) c.3876+46G>T (n.3876+46G>T) | |
| 2 | g.237360043A= | CA1337617787 | COL6A3 | c.5664+45T= (n.5664+45T=) c.6282+45T= (n.6282+45T=) c.4461+45T= (n.4461+45T=) c.5682+45T= (n.5682+45T=) c.5061+45T= (n.5061+45T=) c.5781+45T= (n.5781+45T=) c.6279+45T= (n.6279+45T=) c.3876+45T= (n.3876+45T=) | |
| 2 | g.237360043A>T | CA766577422 | COL6A3 | c.5664+45T>A (n.5664+45T>A) c.6282+45T>A (n.6282+45T>A) c.4461+45T>A (n.4461+45T>A) c.5682+45T>A (n.5682+45T>A) c.5061+45T>A (n.5061+45T>A) c.5781+45T>A (n.5781+45T>A) c.6279+45T>A (n.6279+45T>A) c.3876+45T>A (n.3876+45T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.237360045C>A | CA2663795021 | COL6A3 | c.5664+43G>T (n.5664+43G>T) c.6282+43G>T (n.6282+43G>T) c.4461+43G>T (n.4461+43G>T) c.5682+43G>T (n.5682+43G>T) c.5061+43G>T (n.5061+43G>T) c.5781+43G>T (n.5781+43G>T) c.6279+43G>T (n.6279+43G>T) c.3876+43G>T (n.3876+43G>T) | gnomAD v4 |
| 2 | g.237360047G>T | CA2577289833 | COL6A3 | c.5664+41C>A (n.5664+41C>A) c.6282+41C>A (n.6282+41C>A) c.4461+41C>A (n.4461+41C>A) c.5682+41C>A (n.5682+41C>A) c.5061+41C>A (n.5061+41C>A) c.5781+41C>A (n.5781+41C>A) c.6279+41C>A (n.6279+41C>A) c.3876+41C>A (n.3876+41C>A) | gnomAD v4 |
| 2 | g.237360048A>C | CA1043803500 | COL6A3 | c.5664+40T>G (n.5664+40T>G) c.6282+40T>G (n.6282+40T>G) c.4461+40T>G (n.4461+40T>G) c.5682+40T>G (n.5682+40T>G) c.5061+40T>G (n.5061+40T>G) c.5781+40T>G (n.5781+40T>G) c.6279+40T>G (n.6279+40T>G) c.3876+40T>G (n.3876+40T>G) | gnomAD v3 gnomAD v4 |
| 2 | g.237360049C>A | CA540463997 | COL6A3 | c.5664+39G>T (n.5664+39G>T) c.6282+39G>T (n.6282+39G>T) c.4461+39G>T (n.4461+39G>T) c.5682+39G>T (n.5682+39G>T) c.5061+39G>T (n.5061+39G>T) c.5781+39G>T (n.5781+39G>T) c.6279+39G>T (n.6279+39G>T) c.3876+39G>T (n.3876+39G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360049C= | CA1337617788 | COL6A3 | c.5664+39G= (n.5664+39G=) c.6282+39G= (n.6282+39G=) c.4461+39G= (n.4461+39G=) c.5682+39G= (n.5682+39G=) c.5061+39G= (n.5061+39G=) c.5781+39G= (n.5781+39G=) c.6279+39G= (n.6279+39G=) c.3876+39G= (n.3876+39G=) | |
| 2 | g.237360049C>T | CA540464000 | COL6A3 | c.5664+39G>A (n.5664+39G>A) c.6282+39G>A (n.6282+39G>A) c.4461+39G>A (n.4461+39G>A) c.5682+39G>A (n.5682+39G>A) c.5061+39G>A (n.5061+39G>A) c.5781+39G>A (n.5781+39G>A) c.6279+39G>A (n.6279+39G>A) c.3876+39G>A (n.3876+39G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.237360050C>A | CA540464002 | COL6A3 | c.5664+38G>T (n.5664+38G>T) c.6282+38G>T (n.6282+38G>T) c.4461+38G>T (n.4461+38G>T) c.5682+38G>T (n.5682+38G>T) c.5061+38G>T (n.5061+38G>T) c.5781+38G>T (n.5781+38G>T) c.6279+38G>T (n.6279+38G>T) c.3876+38G>T (n.3876+38G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.237360050C= | CA1337617789 | COL6A3 | c.5664+38G= (n.5664+38G=) c.6282+38G= (n.6282+38G=) c.4461+38G= (n.4461+38G=) c.5682+38G= (n.5682+38G=) c.5061+38G= (n.5061+38G=) c.5781+38G= (n.5781+38G=) c.6279+38G= (n.6279+38G=) c.3876+38G= (n.3876+38G=) | |
| 2 | g.237360051C= | CA1337617790 | COL6A3 | c.5664+37G= (n.5664+37G=) c.6282+37G= (n.6282+37G=) c.4461+37G= (n.4461+37G=) c.5682+37G= (n.5682+37G=) c.5061+37G= (n.5061+37G=) c.5781+37G= (n.5781+37G=) c.6279+37G= (n.6279+37G=) c.3876+37G= (n.3876+37G=) | |
| 2 | g.237360051C>T | CA1337617791 | COL6A3 | c.5664+37G>A (n.5664+37G>A) c.6282+37G>A (n.6282+37G>A) c.4461+37G>A (n.4461+37G>A) c.5682+37G>A (n.5682+37G>A) c.5061+37G>A (n.5061+37G>A) c.5781+37G>A (n.5781+37G>A) c.6279+37G>A (n.6279+37G>A) c.3876+37G>A (n.3876+37G>A) | dbSNP |
| 2 | g.237360052C>T | CA2663795023 | COL6A3 | c.5664+36G>A (n.5664+36G>A) c.6282+36G>A (n.6282+36G>A) c.4461+36G>A (n.4461+36G>A) c.5682+36G>A (n.5682+36G>A) c.5061+36G>A (n.5061+36G>A) c.5781+36G>A (n.5781+36G>A) c.6279+36G>A (n.6279+36G>A) c.3876+36G>A (n.3876+36G>A) | gnomAD v4 |
| 2 | g.237360055C= | CA1337617792 | COL6A3 | c.5664+33G= (n.5664+33G=) c.6282+33G= (n.6282+33G=) c.4461+33G= (n.4461+33G=) c.5682+33G= (n.5682+33G=) c.5061+33G= (n.5061+33G=) c.5781+33G= (n.5781+33G=) c.6279+33G= (n.6279+33G=) c.3876+33G= (n.3876+33G=) | |
| 2 | g.237360055C>T | CA2188376 | COL6A3 | c.5664+33G>A (n.5664+33G>A) c.6282+33G>A (n.6282+33G>A) c.4461+33G>A (n.4461+33G>A) c.5682+33G>A (n.5682+33G>A) c.5061+33G>A (n.5061+33G>A) c.5781+33G>A (n.5781+33G>A) c.6279+33G>A (n.6279+33G>A) c.3876+33G>A (n.3876+33G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.237360056C>T | CA2663795026 | COL6A3 | c.5664+32G>A (n.5664+32G>A) c.6282+32G>A (n.6282+32G>A) c.4461+32G>A (n.4461+32G>A) c.5682+32G>A (n.5682+32G>A) c.5061+32G>A (n.5061+32G>A) c.5781+32G>A (n.5781+32G>A) c.6279+32G>A (n.6279+32G>A) c.3876+32G>A (n.3876+32G>A) | gnomAD v4 |
| 2 | g.237360057C>A | CA2188377 | COL6A3 | c.5664+31G>T (n.5664+31G>T) c.6282+31G>T (n.6282+31G>T) c.4461+31G>T (n.4461+31G>T) c.5682+31G>T (n.5682+31G>T) c.5061+31G>T (n.5061+31G>T) c.5781+31G>T (n.5781+31G>T) c.6279+31G>T (n.6279+31G>T) c.3876+31G>T (n.3876+31G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360057C= | CA1337617793 | COL6A3 | c.5664+31G= (n.5664+31G=) c.6282+31G= (n.6282+31G=) c.4461+31G= (n.4461+31G=) c.5682+31G= (n.5682+31G=) c.5061+31G= (n.5061+31G=) c.5781+31G= (n.5781+31G=) c.6279+31G= (n.6279+31G=) c.3876+31G= (n.3876+31G=) | |
| 2 | g.237360057C>T | CA1043803501 | COL6A3 | c.5664+31G>A (n.5664+31G>A) c.6282+31G>A (n.6282+31G>A) c.4461+31G>A (n.4461+31G>A) c.5682+31G>A (n.5682+31G>A) c.5061+31G>A (n.5061+31G>A) c.5781+31G>A (n.5781+31G>A) c.6279+31G>A (n.6279+31G>A) c.3876+31G>A (n.3876+31G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.237360059C>A | CA540464005 | COL6A3 | c.5664+29G>T (n.5664+29G>T) c.6282+29G>T (n.6282+29G>T) c.4461+29G>T (n.4461+29G>T) c.5682+29G>T (n.5682+29G>T) c.5061+29G>T (n.5061+29G>T) c.5781+29G>T (n.5781+29G>T) c.6279+29G>T (n.6279+29G>T) c.3876+29G>T (n.3876+29G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360059C= | CA1337617794 | COL6A3 | c.5664+29G= (n.5664+29G=) c.6282+29G= (n.6282+29G=) c.4461+29G= (n.4461+29G=) c.5682+29G= (n.5682+29G=) c.5061+29G= (n.5061+29G=) c.5781+29G= (n.5781+29G=) c.6279+29G= (n.6279+29G=) c.3876+29G= (n.3876+29G=) | |
| 2 | g.237360059C>G | CA2663795028 | COL6A3 | c.5664+29G>C (n.5664+29G>C) c.6282+29G>C (n.6282+29G>C) c.4461+29G>C (n.4461+29G>C) c.5682+29G>C (n.5682+29G>C) c.5061+29G>C (n.5061+29G>C) c.5781+29G>C (n.5781+29G>C) c.6279+29G>C (n.6279+29G>C) c.3876+29G>C (n.3876+29G>C) | gnomAD v4 |
| 2 | g.237360059C>T | CA2188378 | COL6A3 | c.5664+29G>A (n.5664+29G>A) c.6282+29G>A (n.6282+29G>A) c.4461+29G>A (n.4461+29G>A) c.5682+29G>A (n.5682+29G>A) c.5061+29G>A (n.5061+29G>A) c.5781+29G>A (n.5781+29G>A) c.6279+29G>A (n.6279+29G>A) c.3876+29G>A (n.3876+29G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.237360060G>A | CA2188379 | COL6A3 | c.5664+28C>T (n.5664+28C>T) c.6282+28C>T (n.6282+28C>T) c.4461+28C>T (n.4461+28C>T) c.5682+28C>T (n.5682+28C>T) c.5061+28C>T (n.5061+28C>T) c.5781+28C>T (n.5781+28C>T) c.6279+28C>T (n.6279+28C>T) c.3876+28C>T (n.3876+28C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360060G>C | CA67854105 | COL6A3 | c.5664+28C>G (n.5664+28C>G) c.6282+28C>G (n.6282+28C>G) c.4461+28C>G (n.4461+28C>G) c.5682+28C>G (n.5682+28C>G) c.5061+28C>G (n.5061+28C>G) c.5781+28C>G (n.5781+28C>G) c.6279+28C>G (n.6279+28C>G) c.3876+28C>G (n.3876+28C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360060G= | CA1337617795 | COL6A3 | c.5664+28C= (n.5664+28C=) c.6282+28C= (n.6282+28C=) c.4461+28C= (n.4461+28C=) c.5682+28C= (n.5682+28C=) c.5061+28C= (n.5061+28C=) c.5781+28C= (n.5781+28C=) c.6279+28C= (n.6279+28C=) c.3876+28C= (n.3876+28C=) | |
| 2 | g.237360060G>T | CA2188380 | COL6A3 | c.5664+28C>A (n.5664+28C>A) c.6282+28C>A (n.6282+28C>A) c.4461+28C>A (n.4461+28C>A) c.5682+28C>A (n.5682+28C>A) c.5061+28C>A (n.5061+28C>A) c.5781+28C>A (n.5781+28C>A) c.6279+28C>A (n.6279+28C>A) c.3876+28C>A (n.3876+28C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360062T>C | CA2577289834 | COL6A3 | c.5664+26A>G (n.5664+26A>G) c.6282+26A>G (n.6282+26A>G) c.4461+26A>G (n.4461+26A>G) c.5682+26A>G (n.5682+26A>G) c.5061+26A>G (n.5061+26A>G) c.5781+26A>G (n.5781+26A>G) c.6279+26A>G (n.6279+26A>G) c.3876+26A>G (n.3876+26A>G) | |
| 2 | g.237360063A= | CA1337617796 | COL6A3 | c.5664+25T= (n.5664+25T=) c.6282+25T= (n.6282+25T=) c.4461+25T= (n.4461+25T=) c.5682+25T= (n.5682+25T=) c.5061+25T= (n.5061+25T=) c.5781+25T= (n.5781+25T=) c.6279+25T= (n.6279+25T=) c.3876+25T= (n.3876+25T=) | |
| 2 | g.237360063A>G | CA540464009 | COL6A3 | c.5664+25T>C (n.5664+25T>C) c.6282+25T>C (n.6282+25T>C) c.4461+25T>C (n.4461+25T>C) c.5682+25T>C (n.5682+25T>C) c.5061+25T>C (n.5061+25T>C) c.5781+25T>C (n.5781+25T>C) c.6279+25T>C (n.6279+25T>C) c.3876+25T>C (n.3876+25T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.237360067A= | CA1337617797 | COL6A3 | c.5664+21T= (n.5664+21T=) c.6282+21T= (n.6282+21T=) c.4461+21T= (n.4461+21T=) c.5682+21T= (n.5682+21T=) c.5061+21T= (n.5061+21T=) c.5781+21T= (n.5781+21T=) c.6279+21T= (n.6279+21T=) c.3876+21T= (n.3876+21T=) | |
| 2 | g.237360067A>T | CA2188381 | COL6A3 | c.5664+21T>A (n.5664+21T>A) c.6282+21T>A (n.6282+21T>A) c.4461+21T>A (n.4461+21T>A) c.5682+21T>A (n.5682+21T>A) c.5061+21T>A (n.5061+21T>A) c.5781+21T>A (n.5781+21T>A) c.6279+21T>A (n.6279+21T>A) c.3876+21T>A (n.3876+21T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.237360067_237360068delinsAC | CA1337617798 | COL6A3 | c.5664+20_5664+21delinsGT (n.5664+20_5664+21delinsGT) c.6282+20_6282+21delinsGT (n.6282+20_6282+21delinsGT) c.4461+20_4461+21delinsGT (n.4461+20_4461+21delinsGT) c.5682+20_5682+21delinsGT (n.5682+20_5682+21delinsGT) c.5061+20_5061+21delinsGT (n.5061+20_5061+21delinsGT) c.5781+20_5781+21delinsGT (n.5781+20_5781+21delinsGT) c.6279+20_6279+21delinsGT (n.6279+20_6279+21delinsGT) c.3876+20_3876+21delinsGT (n.3876+20_3876+21delinsGT) | |
| 2 | g.237360068C>A | CA2663795046 | COL6A3 | c.5664+20G>T (n.5664+20G>T) c.6282+20G>T (n.6282+20G>T) c.4461+20G>T (n.4461+20G>T) c.5682+20G>T (n.5682+20G>T) c.5061+20G>T (n.5061+20G>T) c.5781+20G>T (n.5781+20G>T) c.6279+20G>T (n.6279+20G>T) c.3876+20G>T (n.3876+20G>T) | gnomAD v4 |
| 2 | g.237360068C= | CA1337617799 | COL6A3 | c.5664+20G= (n.5664+20G=) c.6282+20G= (n.6282+20G=) c.4461+20G= (n.4461+20G=) c.5682+20G= (n.5682+20G=) c.5061+20G= (n.5061+20G=) c.5781+20G= (n.5781+20G=) c.6279+20G= (n.6279+20G=) c.3876+20G= (n.3876+20G=) | |
| 2 | g.237360068C>T | CA2188382 | COL6A3 | c.5664+20G>A (n.5664+20G>A) c.6282+20G>A (n.6282+20G>A) c.4461+20G>A (n.4461+20G>A) c.5682+20G>A (n.5682+20G>A) c.5061+20G>A (n.5061+20G>A) c.5781+20G>A (n.5781+20G>A) c.6279+20G>A (n.6279+20G>A) c.3876+20G>A (n.3876+20G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360071del | CA540464014 | COL6A3 | c.5664+20del (n.5664+20del) c.6282+20del (n.6282+20del) c.4461+20del (n.4461+20del) c.5682+20del (n.5682+20del) c.5061+20del (n.5061+20del) c.5781+20del (n.5781+20del) c.6279+20del (n.6279+20del) c.3876+20del (n.3876+20del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360070C>T | CA2577289835 | COL6A3 | c.5664+18G>A (n.5664+18G>A) c.6282+18G>A (n.6282+18G>A) c.4461+18G>A (n.4461+18G>A) c.5682+18G>A (n.5682+18G>A) c.5061+18G>A (n.5061+18G>A) c.5781+18G>A (n.5781+18G>A) c.6279+18G>A (n.6279+18G>A) c.3876+18G>A (n.3876+18G>A) | gnomAD v4 |
| 2 | g.237360074C>G | CA2663795050 | COL6A3 | c.5664+14G>C (n.5664+14G>C) c.6282+14G>C (n.6282+14G>C) c.4461+14G>C (n.4461+14G>C) c.5682+14G>C (n.5682+14G>C) c.5061+14G>C (n.5061+14G>C) c.5781+14G>C (n.5781+14G>C) c.6279+14G>C (n.6279+14G>C) c.3876+14G>C (n.3876+14G>C) | gnomAD v4 |
| 2 | g.237360074C>T | CA2663795051 | COL6A3 | c.5664+14G>A (n.5664+14G>A) c.6282+14G>A (n.6282+14G>A) c.4461+14G>A (n.4461+14G>A) c.5682+14G>A (n.5682+14G>A) c.5061+14G>A (n.5061+14G>A) c.5781+14G>A (n.5781+14G>A) c.6279+14G>A (n.6279+14G>A) c.3876+14G>A (n.3876+14G>A) | gnomAD v4 |
| 2 | g.237360076C= | CA1337617800 | COL6A3 | c.5664+12G= (n.5664+12G=) c.6282+12G= (n.6282+12G=) c.4461+12G= (n.4461+12G=) c.5682+12G= (n.5682+12G=) c.5061+12G= (n.5061+12G=) c.5781+12G= (n.5781+12G=) c.6279+12G= (n.6279+12G=) c.3876+12G= (n.3876+12G=) | |
| 2 | g.237360076C>T | CA2188383 | COL6A3 | c.5664+12G>A (n.5664+12G>A) c.6282+12G>A (n.6282+12G>A) c.4461+12G>A (n.4461+12G>A) c.5682+12G>A (n.5682+12G>A) c.5061+12G>A (n.5061+12G>A) c.5781+12G>A (n.5781+12G>A) c.6279+12G>A (n.6279+12G>A) c.3876+12G>A (n.3876+12G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360078del | CA2577289836 | COL6A3 | c.5664+12del (n.5664+12del) c.6282+12del (n.6282+12del) c.4461+12del (n.4461+12del) c.5682+12del (n.5682+12del) c.5061+12del (n.5061+12del) c.5781+12del (n.5781+12del) c.6279+12del (n.6279+12del) c.3876+12del (n.3876+12del) | |
| 2 | g.237360079_237360080dup | CA2663795053 | COL6A3 | c.5664+9_5664+10dup (n.5664+9_5664+10dup) c.6282+9_6282+10dup (n.6282+9_6282+10dup) c.4461+9_4461+10dup (n.4461+9_4461+10dup) c.5682+9_5682+10dup (n.5682+9_5682+10dup) c.5061+9_5061+10dup (n.5061+9_5061+10dup) c.5781+9_5781+10dup (n.5781+9_5781+10dup) c.6279+9_6279+10dup (n.6279+9_6279+10dup) c.3876+9_3876+10dup (n.3876+9_3876+10dup) | gnomAD v4 |
| 2 | g.237360079A= | CA1337617801 | COL6A3 | c.5664+9T= (n.5664+9T=) c.6282+9T= (n.6282+9T=) c.4461+9T= (n.4461+9T=) c.5682+9T= (n.5682+9T=) c.5061+9T= (n.5061+9T=) c.5781+9T= (n.5781+9T=) c.6279+9T= (n.6279+9T=) c.3876+9T= (n.3876+9T=) | |
| 2 | g.237360079A>G | CA67854157 | COL6A3 | c.5664+9T>C (n.5664+9T>C) c.6282+9T>C (n.6282+9T>C) c.4461+9T>C (n.4461+9T>C) c.5682+9T>C (n.5682+9T>C) c.5061+9T>C (n.5061+9T>C) c.5781+9T>C (n.5781+9T>C) c.6279+9T>C (n.6279+9T>C) c.3876+9T>C (n.3876+9T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.237360079A>T | CA2577289837 | COL6A3 | c.5664+9T>A (n.5664+9T>A) c.6282+9T>A (n.6282+9T>A) c.4461+9T>A (n.4461+9T>A) c.5682+9T>A (n.5682+9T>A) c.5061+9T>A (n.5061+9T>A) c.5781+9T>A (n.5781+9T>A) c.6279+9T>A (n.6279+9T>A) c.3876+9T>A (n.3876+9T>A) | |
| 2 | g.237360080C= | CA1337617802 | COL6A3 | c.5664+8G= (n.5664+8G=) c.6282+8G= (n.6282+8G=) c.4461+8G= (n.4461+8G=) c.5682+8G= (n.5682+8G=) c.5061+8G= (n.5061+8G=) c.5781+8G= (n.5781+8G=) c.6279+8G= (n.6279+8G=) c.3876+8G= (n.3876+8G=) | |
| 2 | g.237360080C>T | CA2188384 | COL6A3 | c.5664+8G>A (n.5664+8G>A) c.6282+8G>A (n.6282+8G>A) c.4461+8G>A (n.4461+8G>A) c.5682+8G>A (n.5682+8G>A) c.5061+8G>A (n.5061+8G>A) c.5781+8G>A (n.5781+8G>A) c.6279+8G>A (n.6279+8G>A) c.3876+8G>A (n.3876+8G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360081G>A | CA2188385 | COL6A3 | c.5664+7C>T (n.5664+7C>T) c.6282+7C>T (n.6282+7C>T) c.4461+7C>T (n.4461+7C>T) c.5682+7C>T (n.5682+7C>T) c.5061+7C>T (n.5061+7C>T) c.5781+7C>T (n.5781+7C>T) c.6279+7C>T (n.6279+7C>T) c.3876+7C>T (n.3876+7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360081G= | CA1337617803 | COL6A3 | c.5664+7C= (n.5664+7C=) c.6282+7C= (n.6282+7C=) c.4461+7C= (n.4461+7C=) c.5682+7C= (n.5682+7C=) c.5061+7C= (n.5061+7C=) c.5781+7C= (n.5781+7C=) c.6279+7C= (n.6279+7C=) c.3876+7C= (n.3876+7C=) | |
| 2 | g.237360082C>A | CA540464024 | COL6A3 | c.5664+6G>T (n.5664+6G>T) c.6282+6G>T (n.6282+6G>T) c.4461+6G>T (n.4461+6G>T) c.5682+6G>T (n.5682+6G>T) c.5061+6G>T (n.5061+6G>T) c.5781+6G>T (n.5781+6G>T) c.6279+6G>T (n.6279+6G>T) c.3876+6G>T (n.3876+6G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.237360082C= | CA1337617804 | COL6A3 | c.5664+6G= (n.5664+6G=) c.6282+6G= (n.6282+6G=) c.4461+6G= (n.4461+6G=) c.5682+6G= (n.5682+6G=) c.5061+6G= (n.5061+6G=) c.5781+6G= (n.5781+6G=) c.6279+6G= (n.6279+6G=) c.3876+6G= (n.3876+6G=) | |
| 2 | g.237360082C>T | CA2188386 | COL6A3 | c.5664+6G>A (n.5664+6G>A) c.6282+6G>A (n.6282+6G>A) c.4461+6G>A (n.4461+6G>A) c.5682+6G>A (n.5682+6G>A) c.5061+6G>A (n.5061+6G>A) c.5781+6G>A (n.5781+6G>A) c.6279+6G>A (n.6279+6G>A) c.3876+6G>A (n.3876+6G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360085C= | CA1337617805 | COL6A3 | c.5664+3G= (n.5664+3G=) c.6282+3G= (n.6282+3G=) c.4461+3G= (n.4461+3G=) c.5682+3G= (n.5682+3G=) c.5061+3G= (n.5061+3G=) c.5781+3G= (n.5781+3G=) c.6279+3G= (n.6279+3G=) c.3876+3G= (n.3876+3G=) | |
| 2 | g.237360085C>T | CA2188387 | COL6A3 | c.5664+3G>A (n.5664+3G>A) c.6282+3G>A (n.6282+3G>A) c.4461+3G>A (n.4461+3G>A) c.5682+3G>A (n.5682+3G>A) c.5061+3G>A (n.5061+3G>A) c.5781+3G>A (n.5781+3G>A) c.6279+3G>A (n.6279+3G>A) c.3876+3G>A (n.3876+3G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.237360086A>C | CA351216447 | COL6A3 | c.5664+2T>G (n.5664+2T>G) c.6282+2T>G (n.6282+2T>G) c.4461+2T>G (n.4461+2T>G) c.5682+2T>G (n.5682+2T>G) c.5061+2T>G (n.5061+2T>G) c.5781+2T>G (n.5781+2T>G) c.6279+2T>G (n.6279+2T>G) c.3876+2T>G (n.3876+2T>G) | |
| 2 | g.237360086A>G | CA351216449 | COL6A3 | c.5664+2T>C (n.5664+2T>C) c.6282+2T>C (n.6282+2T>C) c.4461+2T>C (n.4461+2T>C) c.5682+2T>C (n.5682+2T>C) c.5061+2T>C (n.5061+2T>C) c.5781+2T>C (n.5781+2T>C) c.6279+2T>C (n.6279+2T>C) c.3876+2T>C (n.3876+2T>C) | |
| 2 | g.237360086A>T | CA351216451 | COL6A3 | c.5664+2T>A (n.5664+2T>A) c.6282+2T>A (n.6282+2T>A) c.4461+2T>A (n.4461+2T>A) c.5682+2T>A (n.5682+2T>A) c.5061+2T>A (n.5061+2T>A) c.5781+2T>A (n.5781+2T>A) c.6279+2T>A (n.6279+2T>A) c.3876+2T>A (n.3876+2T>A) | |
| 2 | g.237360087C>A | CA351216457 | COL6A3 | c.5664+1G>T (n.5664+1G>T) c.6282+1G>T (n.6282+1G>T) c.4461+1G>T (n.4461+1G>T) c.5682+1G>T (n.5682+1G>T) c.5061+1G>T (n.5061+1G>T) c.5781+1G>T (n.5781+1G>T) c.6279+1G>T (n.6279+1G>T) c.3876+1G>T (n.3876+1G>T) | |
| 2 | g.237360087C= | CA1337617806 | COL6A3 | c.5664+1G= (n.5664+1G=) c.6282+1G= (n.6282+1G=) c.4461+1G= (n.4461+1G=) c.5682+1G= (n.5682+1G=) c.5061+1G= (n.5061+1G=) c.5781+1G= (n.5781+1G=) c.6279+1G= (n.6279+1G=) c.3876+1G= (n.3876+1G=) | |
| 2 | g.237360087C>G | CA351216453 | COL6A3 | c.5664+1G>C (n.5664+1G>C) c.6282+1G>C (n.6282+1G>C) c.4461+1G>C (n.4461+1G>C) c.5682+1G>C (n.5682+1G>C) c.5061+1G>C (n.5061+1G>C) c.5781+1G>C (n.5781+1G>C) c.6279+1G>C (n.6279+1G>C) c.3876+1G>C (n.3876+1G>C) | ClinVar |
| 2 | g.237360087C>T | CA222638 | COL6A3 | c.5664+1G>A (n.5664+1G>A) c.6282+1G>A (n.6282+1G>A) c.4461+1G>A (n.4461+1G>A) c.5682+1G>A (n.5682+1G>A) c.5061+1G>A (n.5061+1G>A) c.5781+1G>A (n.5781+1G>A) c.6279+1G>A (n.6279+1G>A) c.3876+1G>A (n.3876+1G>A) | ClinVar dbSNP |
| 2 | g.237360088C>A | CA351216460 | COL6A3 | c.5664G>T (p.Lys1888Asn) c.6282G>T (p.Lys2094Asn) c.4461G>T (p.Lys1487Asn) c.5682G>T (p.Lys1894Asn) c.5061G>T (p.Lys1687Asn) c.5781G>T (p.Lys1927Asn) c.6279G>T (p.Lys2093Asn) c.3876G>T (p.Lys1292Asn) | |
| 2 | g.237360088C= | CA1337617807 | COL6A3 | c.5664G= (p.Lys1888=) c.6282G= (p.Lys2094=) c.4461G= (p.Lys1487=) c.5682G= (p.Lys1894=) c.5061G= (p.Lys1687=) c.5781G= (p.Lys1927=) c.6279G= (p.Lys2093=) c.3876G= (p.Lys1292=) | |
| 2 | g.237360088C>G | CA351216462 | COL6A3 | c.5664G>C (p.Lys1888Asn) c.6282G>C (p.Lys2094Asn) c.4461G>C (p.Lys1487Asn) c.5682G>C (p.Lys1894Asn) c.5061G>C (p.Lys1687Asn) c.5781G>C (p.Lys1927Asn) c.6279G>C (p.Lys2093Asn) c.3876G>C (p.Lys1292Asn) | |
| 2 | g.237360088C>T | CA431678435 | COL6A3 | c.5664G>A (p.Lys1888=) c.6282G>A (p.Lys2094=) c.4461G>A (p.Lys1487=) c.5682G>A (p.Lys1894=) c.5061G>A (p.Lys1687=) c.5781G>A (p.Lys1927=) c.6279G>A (p.Lys2093=) c.3876G>A (p.Lys1292=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.237360089T>A | CA351216464 | COL6A3 | c.5663A>T (p.Lys1888Met) c.6281A>T (p.Lys2094Met) c.4460A>T (p.Lys1487Met) c.5681A>T (p.Lys1894Met) c.5060A>T (p.Lys1687Met) c.5780A>T (p.Lys1927Met) c.6278A>T (p.Lys2093Met) c.3875A>T (p.Lys1292Met) | |
| 2 | g.237360089T>C | CA351216466 | COL6A3 | c.5663A>G (p.Lys1888Arg) c.6281A>G (p.Lys2094Arg) c.4460A>G (p.Lys1487Arg) c.5681A>G (p.Lys1894Arg) c.5060A>G (p.Lys1687Arg) c.5780A>G (p.Lys1927Arg) c.6278A>G (p.Lys2093Arg) c.3875A>G (p.Lys1292Arg) | |
| 2 | g.237360089T>G | CA351216468 | COL6A3 | c.5663A>C (p.Lys1888Thr) c.6281A>C (p.Lys2094Thr) c.4460A>C (p.Lys1487Thr) c.5681A>C (p.Lys1894Thr) c.5060A>C (p.Lys1687Thr) c.5780A>C (p.Lys1927Thr) c.6278A>C (p.Lys2093Thr) c.3875A>C (p.Lys1292Thr) | |
| 2 | g.237360090T>A | CA351216470 | COL6A3 | c.5662A>T (p.Lys1888Ter) c.6280A>T (p.Lys2094Ter) c.4459A>T (p.Lys1487Ter) c.5680A>T (p.Lys1894Ter) c.5059A>T (p.Lys1687Ter) c.5779A>T (p.Lys1927Ter) c.6277A>T (p.Lys2093Ter) c.3874A>T (p.Lys1292Ter) | |
| 2 | g.237360090T>C | CA351216472 | COL6A3 | c.5662A>G (p.Lys1888Glu) c.6280A>G (p.Lys2094Glu) c.4459A>G (p.Lys1487Glu) c.5680A>G (p.Lys1894Glu) c.5059A>G (p.Lys1687Glu) c.5779A>G (p.Lys1927Glu) c.6277A>G (p.Lys2093Glu) c.3874A>G (p.Lys1292Glu) | gnomAD v4 |
| 2 | g.237360090T>G | CA351216474 | COL6A3 | c.5662A>C (p.Lys1888Gln) c.6280A>C (p.Lys2094Gln) c.4459A>C (p.Lys1487Gln) c.5680A>C (p.Lys1894Gln) c.5059A>C (p.Lys1687Gln) c.5779A>C (p.Lys1927Gln) c.6277A>C (p.Lys2093Gln) c.3874A>C (p.Lys1292Gln) | ClinVar dbSNP |
| 2 | g.237360091T>A | CA431678436 | COL6A3 | c.5661A>T (p.Val1887=) c.6279A>T (p.Val2093=) c.4458A>T (p.Val1486=) c.5679A>T (p.Val1893=) c.5058A>T (p.Val1686=) c.5778A>T (p.Val1926=) c.6276A>T (p.Val2092=) c.3873A>T (p.Val1291=) | |
| 2 | g.237360091T>C | CA431678437 | COL6A3 | c.5661A>G (p.Val1887=) c.6279A>G (p.Val2093=) c.4458A>G (p.Val1486=) c.5679A>G (p.Val1893=) c.5058A>G (p.Val1686=) c.5778A>G (p.Val1926=) c.6276A>G (p.Val2092=) c.3873A>G (p.Val1291=) | |
| 2 | g.237360091T>G | CA431678438 | COL6A3 | c.5661A>C (p.Val1887=) c.6279A>C (p.Val2093=) c.4458A>C (p.Val1486=) c.5679A>C (p.Val1893=) c.5058A>C (p.Val1686=) c.5778A>C (p.Val1926=) c.6276A>C (p.Val2092=) c.3873A>C (p.Val1291=) | |
| 2 | g.237360092A>C | CA351216476 | COL6A3 | c.5660T>G (p.Val1887Gly) c.6278T>G (p.Val2093Gly) c.4457T>G (p.Val1486Gly) c.5678T>G (p.Val1893Gly) c.5057T>G (p.Val1686Gly) c.5777T>G (p.Val1926Gly) c.6275T>G (p.Val2092Gly) c.3872T>G (p.Val1291Gly) | |
| 2 | g.237360092A>G | CA351216478 | COL6A3 | c.5660T>C (p.Val1887Ala) c.6278T>C (p.Val2093Ala) c.4457T>C (p.Val1486Ala) c.5678T>C (p.Val1893Ala) c.5057T>C (p.Val1686Ala) c.5777T>C (p.Val1926Ala) c.6275T>C (p.Val2092Ala) c.3872T>C (p.Val1291Ala) | |
| 2 | g.237360092A>T | CA351216480 | COL6A3 | c.5660T>A (p.Val1887Glu) c.6278T>A (p.Val2093Glu) c.4457T>A (p.Val1486Glu) c.5678T>A (p.Val1893Glu) c.5057T>A (p.Val1686Glu) c.5777T>A (p.Val1926Glu) c.6275T>A (p.Val2092Glu) c.3872T>A (p.Val1291Glu) | |
| 2 | g.237360093C>A | CA351216483 | COL6A3 | c.5659G>T (p.Val1887Leu) c.6277G>T (p.Val2093Leu) c.4456G>T (p.Val1486Leu) c.5677G>T (p.Val1893Leu) c.5056G>T (p.Val1686Leu) c.5776G>T (p.Val1926Leu) c.6274G>T (p.Val2092Leu) c.3871G>T (p.Val1291Leu) | |
| 2 | g.237360093C>G | CA351216485 | COL6A3 | c.5659G>C (p.Val1887Leu) c.6277G>C (p.Val2093Leu) c.4456G>C (p.Val1486Leu) c.5677G>C (p.Val1893Leu) c.5056G>C (p.Val1686Leu) c.5776G>C (p.Val1926Leu) c.6274G>C (p.Val2092Leu) c.3871G>C (p.Val1291Leu) | |
| 2 | g.237360093C>T | CA351216482 | COL6A3 | c.5659G>A (p.Val1887Ile) c.6277G>A (p.Val2093Ile) c.4456G>A (p.Val1486Ile) c.5677G>A (p.Val1893Ile) c.5056G>A (p.Val1686Ile) c.5776G>A (p.Val1926Ile) c.6274G>A (p.Val2092Ile) c.3871G>A (p.Val1291Ile) | |
| 2 | g.237360094T>A | CA431678441 | COL6A3 | c.5658A>T (p.Gly1886=) c.6276A>T (p.Gly2092=) c.4455A>T (p.Gly1485=) c.5676A>T (p.Gly1892=) c.5055A>T (p.Gly1685=) c.5775A>T (p.Gly1925=) c.6273A>T (p.Gly2091=) c.3870A>T (p.Gly1290=) | |
| 2 | g.237360094T>C | CA431678439 | COL6A3 | c.5658A>G (p.Gly1886=) c.6276A>G (p.Gly2092=) c.4455A>G (p.Gly1485=) c.5676A>G (p.Gly1892=) c.5055A>G (p.Gly1685=) c.5775A>G (p.Gly1925=) c.6273A>G (p.Gly2091=) c.3870A>G (p.Gly1290=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.237360094T>G | CA431678440 | COL6A3 | c.5658A>C (p.Gly1886=) c.6276A>C (p.Gly2092=) c.4455A>C (p.Gly1485=) c.5676A>C (p.Gly1892=) c.5055A>C (p.Gly1685=) c.5775A>C (p.Gly1925=) c.6273A>C (p.Gly2091=) c.3870A>C (p.Gly1290=) | |
| 2 | g.237360094T= | CA1337617808 | COL6A3 | c.5658A= (p.Gly1886=) c.6276A= (p.Gly2092=) c.4455A= (p.Gly1485=) c.5676A= (p.Gly1892=) c.5055A= (p.Gly1685=) c.5775A= (p.Gly1925=) c.6273A= (p.Gly2091=) c.3870A= (p.Gly1290=) | |
| 2 | g.237360095C>A | CA351216487 | COL6A3 | c.5657G>T (p.Gly1886Val) c.6275G>T (p.Gly2092Val) c.4454G>T (p.Gly1485Val) c.5675G>T (p.Gly1892Val) c.5054G>T (p.Gly1685Val) c.5774G>T (p.Gly1925Val) c.6272G>T (p.Gly2091Val) c.3869G>T (p.Gly1290Val) | |
| 2 | g.237360095C>G | CA351216488 | COL6A3 | c.5657G>C (p.Gly1886Ala) c.6275G>C (p.Gly2092Ala) c.4454G>C (p.Gly1485Ala) c.5675G>C (p.Gly1892Ala) c.5054G>C (p.Gly1685Ala) c.5774G>C (p.Gly1925Ala) c.6272G>C (p.Gly2091Ala) c.3869G>C (p.Gly1290Ala) | |
| 2 | g.237360095C>T | CA351216490 | COL6A3 | c.5657G>A (p.Gly1886Glu) c.6275G>A (p.Gly2092Glu) c.4454G>A (p.Gly1485Glu) c.5675G>A (p.Gly1892Glu) c.5054G>A (p.Gly1685Glu) c.5774G>A (p.Gly1925Glu) c.6272G>A (p.Gly2091Glu) c.3869G>A (p.Gly1290Glu) | |
| 2 | g.237360096C>A | CA351216493 | COL6A3 | c.5656G>T (p.Gly1886Ter) c.6274G>T (p.Gly2092Ter) c.4453G>T (p.Gly1485Ter) c.5674G>T (p.Gly1892Ter) c.5053G>T (p.Gly1685Ter) c.5773G>T (p.Gly1925Ter) c.6271G>T (p.Gly2091Ter) c.3868G>T (p.Gly1290Ter) | |
| 2 | g.237360096C>G | CA351216494 | COL6A3 | c.5656G>C (p.Gly1886Arg) c.6274G>C (p.Gly2092Arg) c.4453G>C (p.Gly1485Arg) c.5674G>C (p.Gly1892Arg) c.5053G>C (p.Gly1685Arg) c.5773G>C (p.Gly1925Arg) c.6271G>C (p.Gly2091Arg) c.3868G>C (p.Gly1290Arg) | |
| 2 | g.237360096C>T | CA351216495 | COL6A3 | c.5656G>A (p.Gly1886Arg) c.6274G>A (p.Gly2092Arg) c.4453G>A (p.Gly1485Arg) c.5674G>A (p.Gly1892Arg) c.5053G>A (p.Gly1685Arg) c.5773G>A (p.Gly1925Arg) c.6271G>A (p.Gly2091Arg) c.3868G>A (p.Gly1290Arg) | dbSNP gnomAD v4 |
| 2 | g.237360097T>A | CA351216496 | COL6A3 | c.5655A>T (p.Arg1885Ser) c.6273A>T (p.Arg2091Ser) c.4452A>T (p.Arg1484Ser) c.5673A>T (p.Arg1891Ser) c.5052A>T (p.Arg1684Ser) c.5772A>T (p.Arg1924Ser) c.6270A>T (p.Arg2090Ser) c.3867A>T (p.Arg1289Ser) | |
| 2 | g.237360097T>C | CA431678442 | COL6A3 | c.5655A>G (p.Arg1885=) c.6273A>G (p.Arg2091=) c.4452A>G (p.Arg1484=) c.5673A>G (p.Arg1891=) c.5052A>G (p.Arg1684=) c.5772A>G (p.Arg1924=) c.6270A>G (p.Arg2090=) c.3867A>G (p.Arg1289=) | gnomAD v4 |
| 2 | g.237360097T>G | CA351216498 | COL6A3 | c.5655A>C (p.Arg1885Ser) c.6273A>C (p.Arg2091Ser) c.4452A>C (p.Arg1484Ser) c.5673A>C (p.Arg1891Ser) c.5052A>C (p.Arg1684Ser) c.5772A>C (p.Arg1924Ser) c.6270A>C (p.Arg2090Ser) c.3867A>C (p.Arg1289Ser) | |
| 2 | g.237360098C>A | CA351216499 | COL6A3 | c.5654G>T (p.Arg1885Ile) c.6272G>T (p.Arg2091Ile) c.4451G>T (p.Arg1484Ile) c.5672G>T (p.Arg1891Ile) c.5051G>T (p.Arg1684Ile) c.5771G>T (p.Arg1924Ile) c.6269G>T (p.Arg2090Ile) c.3866G>T (p.Arg1289Ile) | |
| 2 | g.237360098C>G | CA351216501 | COL6A3 | c.5654G>C (p.Arg1885Thr) c.6272G>C (p.Arg2091Thr) c.4451G>C (p.Arg1484Thr) c.5672G>C (p.Arg1891Thr) c.5051G>C (p.Arg1684Thr) c.5771G>C (p.Arg1924Thr) c.6269G>C (p.Arg2090Thr) c.3866G>C (p.Arg1289Thr) | |
| 2 | g.237360098C>T | CA351216503 | COL6A3 | c.5654G>A (p.Arg1885Lys) c.6272G>A (p.Arg2091Lys) c.4451G>A (p.Arg1484Lys) c.5672G>A (p.Arg1891Lys) c.5051G>A (p.Arg1684Lys) c.5771G>A (p.Arg1924Lys) c.6269G>A (p.Arg2090Lys) c.3866G>A (p.Arg1289Lys) | |
| 2 | g.237360099T>A | CA351216505 | COL6A3 | c.5653A>T (p.Arg1885Ter) c.6271A>T (p.Arg2091Ter) c.4450A>T (p.Arg1484Ter) c.5671A>T (p.Arg1891Ter) c.5050A>T (p.Arg1684Ter) c.5770A>T (p.Arg1924Ter) c.6268A>T (p.Arg2090Ter) c.3865A>T (p.Arg1289Ter) | |
| 2 | g.237360099T>C | CA351216506 | COL6A3 | c.5653A>G (p.Arg1885Gly) c.6271A>G (p.Arg2091Gly) c.4450A>G (p.Arg1484Gly) c.5671A>G (p.Arg1891Gly) c.5050A>G (p.Arg1684Gly) c.5770A>G (p.Arg1924Gly) c.6268A>G (p.Arg2090Gly) c.3865A>G (p.Arg1289Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.237360099T>G | CA431678443 | COL6A3 | c.5653A>C (p.Arg1885=) c.6271A>C (p.Arg2091=) c.4450A>C (p.Arg1484=) c.5671A>C (p.Arg1891=) c.5050A>C (p.Arg1684=) c.5770A>C (p.Arg1924=) c.6268A>C (p.Arg2090=) c.3865A>C (p.Arg1289=) | |
| 2 | g.237360099T= | CA1337617809 | COL6A3 | c.5653A= (p.Arg1885=) c.6271A= (p.Arg2091=) c.4450A= (p.Arg1484=) c.5671A= (p.Arg1891=) c.5050A= (p.Arg1684=) c.5770A= (p.Arg1924=) c.6268A= (p.Arg2090=) c.3865A= (p.Arg1289=) | |
| 2 | g.237360100C>A | CA2188388 | COL6A3 | c.5652G>T (p.Gln1884His) c.6270G>T (p.Gln2090His) c.4449G>T (p.Gln1483His) c.5670G>T (p.Gln1890His) c.5049G>T (p.Gln1683His) c.5769G>T (p.Gln1923His) c.6267G>T (p.Gln2089His) c.3864G>T (p.Gln1288His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360100C= | CA1337617810 | COL6A3 | c.5652G= (p.Gln1884=) c.6270G= (p.Gln2090=) c.4449G= (p.Gln1483=) c.5670G= (p.Gln1890=) c.5049G= (p.Gln1683=) c.5769G= (p.Gln1923=) c.6267G= (p.Gln2089=) c.3864G= (p.Gln1288=) | |
| 2 | g.237360100C>G | CA351216508 | COL6A3 | c.5652G>C (p.Gln1884His) c.6270G>C (p.Gln2090His) c.4449G>C (p.Gln1483His) c.5670G>C (p.Gln1890His) c.5049G>C (p.Gln1683His) c.5769G>C (p.Gln1923His) c.6267G>C (p.Gln2089His) c.3864G>C (p.Gln1288His) | |
| 2 | g.237360100C>T | CA431678444 | COL6A3 | c.5652G>A (p.Gln1884=) c.6270G>A (p.Gln2090=) c.4449G>A (p.Gln1483=) c.5670G>A (p.Gln1890=) c.5049G>A (p.Gln1683=) c.5769G>A (p.Gln1923=) c.6267G>A (p.Gln2089=) c.3864G>A (p.Gln1288=) | |
| 2 | g.237360101T>A | CA351216509 | COL6A3 | c.5651A>T (p.Gln1884Leu) c.6269A>T (p.Gln2090Leu) c.4448A>T (p.Gln1483Leu) c.5669A>T (p.Gln1890Leu) c.5048A>T (p.Gln1683Leu) c.5768A>T (p.Gln1923Leu) c.6266A>T (p.Gln2089Leu) c.3863A>T (p.Gln1288Leu) | |
| 2 | g.237360101T>C | CA351216511 | COL6A3 | c.5651A>G (p.Gln1884Arg) c.6269A>G (p.Gln2090Arg) c.4448A>G (p.Gln1483Arg) c.5669A>G (p.Gln1890Arg) c.5048A>G (p.Gln1683Arg) c.5768A>G (p.Gln1923Arg) c.6266A>G (p.Gln2089Arg) c.3863A>G (p.Gln1288Arg) | dbSNP |
| 2 | g.237360101T>G | CA351216513 | COL6A3 | c.5651A>C (p.Gln1884Pro) c.6269A>C (p.Gln2090Pro) c.4448A>C (p.Gln1483Pro) c.5669A>C (p.Gln1890Pro) c.5048A>C (p.Gln1683Pro) c.5768A>C (p.Gln1923Pro) c.6266A>C (p.Gln2089Pro) c.3863A>C (p.Gln1288Pro) | |
| 2 | g.237360101T= | CA1337617811 | COL6A3 | c.5651A= (p.Gln1884=) c.6269A= (p.Gln2090=) c.4448A= (p.Gln1483=) c.5669A= (p.Gln1890=) c.5048A= (p.Gln1683=) c.5768A= (p.Gln1923=) c.6266A= (p.Gln2089=) c.3863A= (p.Gln1288=) | |
| 2 | g.237360102G>A | CA351216516 | COL6A3 | c.5650C>T (p.Gln1884Ter) c.6268C>T (p.Gln2090Ter) c.4447C>T (p.Gln1483Ter) c.5668C>T (p.Gln1890Ter) c.5047C>T (p.Gln1683Ter) c.5767C>T (p.Gln1923Ter) c.6265C>T (p.Gln2089Ter) c.3862C>T (p.Gln1288Ter) | |
| 2 | g.237360102G>C | CA351216517 | COL6A3 | c.5650C>G (p.Gln1884Glu) c.6268C>G (p.Gln2090Glu) c.4447C>G (p.Gln1483Glu) c.5668C>G (p.Gln1890Glu) c.5047C>G (p.Gln1683Glu) c.5767C>G (p.Gln1923Glu) c.6265C>G (p.Gln2089Glu) c.3862C>G (p.Gln1288Glu) | |
| 2 | g.237360102G>T | CA351216519 | COL6A3 | c.5650C>A (p.Gln1884Lys) c.6268C>A (p.Gln2090Lys) c.4447C>A (p.Gln1483Lys) c.5668C>A (p.Gln1890Lys) c.5047C>A (p.Gln1683Lys) c.5767C>A (p.Gln1923Lys) c.6265C>A (p.Gln2089Lys) c.3862C>A (p.Gln1288Lys) | |
| 2 | g.237360103G>A | CA2188389 | COL6A3 | c.5649C>T (p.Gly1883=) c.6267C>T (p.Gly2089=) c.4446C>T (p.Gly1482=) c.5667C>T (p.Gly1889=) c.5046C>T (p.Gly1682=) c.5766C>T (p.Gly1922=) c.6264C>T (p.Gly2088=) c.3861C>T (p.Gly1287=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 2 | g.237360103G>C | CA431678445 | COL6A3 | c.5649C>G (p.Gly1883=) c.6267C>G (p.Gly2089=) c.4446C>G (p.Gly1482=) c.5667C>G (p.Gly1889=) c.5046C>G (p.Gly1682=) c.5766C>G (p.Gly1922=) c.6264C>G (p.Gly2088=) c.3861C>G (p.Gly1287=) | |
| 2 | g.237360103G= | CA1337617812 | COL6A3 | c.5649C= (p.Gly1883=) c.6267C= (p.Gly2089=) c.4446C= (p.Gly1482=) c.5667C= (p.Gly1889=) c.5046C= (p.Gly1682=) c.5766C= (p.Gly1922=) c.6264C= (p.Gly2088=) c.3861C= (p.Gly1287=) | |
| 2 | g.237360103G>T | CA67854215 | COL6A3 | c.5649C>A (p.Gly1883=) c.6267C>A (p.Gly2089=) c.4446C>A (p.Gly1482=) c.5667C>A (p.Gly1889=) c.5046C>A (p.Gly1682=) c.5766C>A (p.Gly1922=) c.6264C>A (p.Gly2088=) c.3861C>A (p.Gly1287=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.237360104C>A | CA351216523 | COL6A3 | c.5648G>T (p.Gly1883Val) c.6266G>T (p.Gly2089Val) c.4445G>T (p.Gly1482Val) c.5666G>T (p.Gly1889Val) c.5045G>T (p.Gly1682Val) c.5765G>T (p.Gly1922Val) c.6263G>T (p.Gly2088Val) c.3860G>T (p.Gly1287Val) | |
| 2 | g.237360104C>G | CA351216525 | COL6A3 | c.5648G>C (p.Gly1883Ala) c.6266G>C (p.Gly2089Ala) c.4445G>C (p.Gly1482Ala) c.5666G>C (p.Gly1889Ala) c.5045G>C (p.Gly1682Ala) c.5765G>C (p.Gly1922Ala) c.6263G>C (p.Gly2088Ala) c.3860G>C (p.Gly1287Ala) | |
| 2 | g.237360104C>T | CA351216527 | COL6A3 | c.5648G>A (p.Gly1883Asp) c.6266G>A (p.Gly2089Asp) c.4445G>A (p.Gly1482Asp) c.5666G>A (p.Gly1889Asp) c.5045G>A (p.Gly1682Asp) c.5765G>A (p.Gly1922Asp) c.6263G>A (p.Gly2088Asp) c.3860G>A (p.Gly1287Asp) | |
| 2 | g.237360105C>A | CA351216529 | COL6A3 | c.5647G>T (p.Gly1883Cys) c.6265G>T (p.Gly2089Cys) c.4444G>T (p.Gly1482Cys) c.5665G>T (p.Gly1889Cys) c.5044G>T (p.Gly1682Cys) c.5764G>T (p.Gly1922Cys) c.6262G>T (p.Gly2088Cys) c.3859G>T (p.Gly1287Cys) | |
| 2 | g.237360105C>G | CA351216531 | COL6A3 | c.5647G>C (p.Gly1883Arg) c.6265G>C (p.Gly2089Arg) c.4444G>C (p.Gly1482Arg) c.5665G>C (p.Gly1889Arg) c.5044G>C (p.Gly1682Arg) c.5764G>C (p.Gly1922Arg) c.6262G>C (p.Gly2088Arg) c.3859G>C (p.Gly1287Arg) | |
| 2 | g.237360105C>T | CA351216533 | COL6A3 | c.5647G>A (p.Gly1883Ser) c.6265G>A (p.Gly2089Ser) c.4444G>A (p.Gly1482Ser) c.5665G>A (p.Gly1889Ser) c.5044G>A (p.Gly1682Ser) c.5764G>A (p.Gly1922Ser) c.6262G>A (p.Gly2088Ser) c.3859G>A (p.Gly1287Ser) | |
| 2 | g.237360106C>A | CA431678448 | COL6A3 | c.5646G>T (p.Pro1882=) c.6264G>T (p.Pro2088=) c.4443G>T (p.Pro1481=) c.5664G>T (p.Pro1888=) c.5043G>T (p.Pro1681=) c.5763G>T (p.Pro1921=) c.6261G>T (p.Pro2087=) c.3858G>T (p.Pro1286=) | |
| 2 | g.237360106C= | CA1337617813 | COL6A3 | c.5646G= (p.Pro1882=) c.6264G= (p.Pro2088=) c.4443G= (p.Pro1481=) c.5664G= (p.Pro1888=) c.5043G= (p.Pro1681=) c.5763G= (p.Pro1921=) c.6261G= (p.Pro2087=) c.3858G= (p.Pro1286=) | |
| 2 | g.237360106C>G | CA431678446 | COL6A3 | c.5646G>C (p.Pro1882=) c.6264G>C (p.Pro2088=) c.4443G>C (p.Pro1481=) c.5664G>C (p.Pro1888=) c.5043G>C (p.Pro1681=) c.5763G>C (p.Pro1921=) c.6261G>C (p.Pro2087=) c.3858G>C (p.Pro1286=) | dbSNP gnomAD v4 |
| 2 | g.237360106C>T | CA431678447 | COL6A3 | c.5646G>A (p.Pro1882=) c.6264G>A (p.Pro2088=) c.4443G>A (p.Pro1481=) c.5664G>A (p.Pro1888=) c.5043G>A (p.Pro1681=) c.5763G>A (p.Pro1921=) c.6261G>A (p.Pro2087=) c.3858G>A (p.Pro1286=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.237360106_237360107delinsAA | CA645514318 | COL6A3 | c.5645_5646delinsTT (p.Pro1882Leu) c.6263_6264delinsTT (p.Pro2088Leu) c.4442_4443delinsTT (p.Pro1481Leu) c.5663_5664delinsTT (p.Pro1888Leu) c.5042_5043delinsTT (p.Pro1681Leu) c.5762_5763delinsTT (p.Pro1921Leu) c.6260_6261delinsTT (p.Pro2087Leu) c.3857_3858delinsTT (p.Pro1286Leu) | COSMIC |
| 2 | g.237360107G>A | CA2188390 | COL6A3 | c.5645C>T (p.Pro1882Leu) c.6263C>T (p.Pro2088Leu) c.4442C>T (p.Pro1481Leu) c.5663C>T (p.Pro1888Leu) c.5042C>T (p.Pro1681Leu) c.5762C>T (p.Pro1921Leu) c.6260C>T (p.Pro2087Leu) c.3857C>T (p.Pro1286Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360107G>C | CA351216536 | COL6A3 | c.5645C>G (p.Pro1882Arg) c.6263C>G (p.Pro2088Arg) c.4442C>G (p.Pro1481Arg) c.5663C>G (p.Pro1888Arg) c.5042C>G (p.Pro1681Arg) c.5762C>G (p.Pro1921Arg) c.6260C>G (p.Pro2087Arg) c.3857C>G (p.Pro1286Arg) | |
| 2 | g.237360107G= | CA1337617814 | COL6A3 | c.5645C= (p.Pro1882=) c.6263C= (p.Pro2088=) c.4442C= (p.Pro1481=) c.5663C= (p.Pro1888=) c.5042C= (p.Pro1681=) c.5762C= (p.Pro1921=) c.6260C= (p.Pro2087=) c.3857C= (p.Pro1286=) | |
| 2 | g.237360107G>T | CA351216535 | COL6A3 | c.5645C>A (p.Pro1882Gln) c.6263C>A (p.Pro2088Gln) c.4442C>A (p.Pro1481Gln) c.5663C>A (p.Pro1888Gln) c.5042C>A (p.Pro1681Gln) c.5762C>A (p.Pro1921Gln) c.6260C>A (p.Pro2087Gln) c.3857C>A (p.Pro1286Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360108G>A | CA351216538 | COL6A3 | c.5644C>T (p.Pro1882Ser) c.6262C>T (p.Pro2088Ser) c.4441C>T (p.Pro1481Ser) c.5662C>T (p.Pro1888Ser) c.5041C>T (p.Pro1681Ser) c.5761C>T (p.Pro1921Ser) c.6259C>T (p.Pro2087Ser) c.3856C>T (p.Pro1286Ser) | |
| 2 | g.237360108G>C | CA351216541 | COL6A3 | c.5644C>G (p.Pro1882Ala) c.6262C>G (p.Pro2088Ala) c.4441C>G (p.Pro1481Ala) c.5662C>G (p.Pro1888Ala) c.5041C>G (p.Pro1681Ala) c.5761C>G (p.Pro1921Ala) c.6259C>G (p.Pro2087Ala) c.3856C>G (p.Pro1286Ala) | gnomAD v4 |
| 2 | g.237360108G>T | CA351216540 | COL6A3 | c.5644C>A (p.Pro1882Thr) c.6262C>A (p.Pro2088Thr) c.4441C>A (p.Pro1481Thr) c.5662C>A (p.Pro1888Thr) c.5041C>A (p.Pro1681Thr) c.5761C>A (p.Pro1921Thr) c.6259C>A (p.Pro2087Thr) c.3856C>A (p.Pro1286Thr) | |
| 2 | g.237360109G>A | CA431678449 | COL6A3 | c.5643C>T (p.Cys1881=) c.6261C>T (p.Cys2087=) c.4440C>T (p.Cys1480=) c.5661C>T (p.Cys1887=) c.5040C>T (p.Cys1680=) c.5760C>T (p.Cys1920=) c.6258C>T (p.Cys2086=) c.3855C>T (p.Cys1285=) | dbSNP |
| 2 | g.237360109G>C | CA351216543 | COL6A3 | c.5643C>G (p.Cys1881Trp) c.6261C>G (p.Cys2087Trp) c.4440C>G (p.Cys1480Trp) c.5661C>G (p.Cys1887Trp) c.5040C>G (p.Cys1680Trp) c.5760C>G (p.Cys1920Trp) c.6258C>G (p.Cys2086Trp) c.3855C>G (p.Cys1285Trp) | |
| 2 | g.237360109G= | CA1337617815 | COL6A3 | c.5643C= (p.Cys1881=) c.6261C= (p.Cys2087=) c.4440C= (p.Cys1480=) c.5661C= (p.Cys1887=) c.5040C= (p.Cys1680=) c.5760C= (p.Cys1920=) c.6258C= (p.Cys2086=) c.3855C= (p.Cys1285=) | |
| 2 | g.237360109G>T | CA351216544 | COL6A3 | c.5643C>A (p.Cys1881Ter) c.6261C>A (p.Cys2087Ter) c.4440C>A (p.Cys1480Ter) c.5661C>A (p.Cys1887Ter) c.5040C>A (p.Cys1680Ter) c.5760C>A (p.Cys1920Ter) c.6258C>A (p.Cys2086Ter) c.3855C>A (p.Cys1285Ter) | |
| 2 | g.237360110C>A | CA351216546 | COL6A3 | c.5642G>T (p.Cys1881Phe) c.6260G>T (p.Cys2087Phe) c.4439G>T (p.Cys1480Phe) c.5660G>T (p.Cys1887Phe) c.5039G>T (p.Cys1680Phe) c.5759G>T (p.Cys1920Phe) c.6257G>T (p.Cys2086Phe) c.3854G>T (p.Cys1285Phe) | |
| 2 | g.237360110C>G | CA351216547 | COL6A3 | c.5642G>C (p.Cys1881Ser) c.6260G>C (p.Cys2087Ser) c.4439G>C (p.Cys1480Ser) c.5660G>C (p.Cys1887Ser) c.5039G>C (p.Cys1680Ser) c.5759G>C (p.Cys1920Ser) c.6257G>C (p.Cys2086Ser) c.3854G>C (p.Cys1285Ser) | |
| 2 | g.237360110C>T | CA351216548 | COL6A3 | c.5642G>A (p.Cys1881Tyr) c.6260G>A (p.Cys2087Tyr) c.4439G>A (p.Cys1480Tyr) c.5660G>A (p.Cys1887Tyr) c.5039G>A (p.Cys1680Tyr) c.5759G>A (p.Cys1920Tyr) c.6257G>A (p.Cys2086Tyr) c.3854G>A (p.Cys1285Tyr) | ClinVar gnomAD v4 |
| 2 | g.237360111A>C | CA351216549 | COL6A3 | c.5641T>G (p.Cys1881Gly) c.6259T>G (p.Cys2087Gly) c.4438T>G (p.Cys1480Gly) c.5659T>G (p.Cys1887Gly) c.5038T>G (p.Cys1680Gly) c.5758T>G (p.Cys1920Gly) c.6256T>G (p.Cys2086Gly) c.3853T>G (p.Cys1285Gly) | |
| 2 | g.237360111A>G | CA351216550 | COL6A3 | c.5641T>C (p.Cys1881Arg) c.6259T>C (p.Cys2087Arg) c.4438T>C (p.Cys1480Arg) c.5659T>C (p.Cys1887Arg) c.5038T>C (p.Cys1680Arg) c.5758T>C (p.Cys1920Arg) c.6256T>C (p.Cys2086Arg) c.3853T>C (p.Cys1285Arg) | |
| 2 | g.237360111A>T | CA351216552 | COL6A3 | c.5641T>A (p.Cys1881Ser) c.6259T>A (p.Cys2087Ser) c.4438T>A (p.Cys1480Ser) c.5659T>A (p.Cys1887Ser) c.5038T>A (p.Cys1680Ser) c.5758T>A (p.Cys1920Ser) c.6256T>A (p.Cys2086Ser) c.3853T>A (p.Cys1285Ser) | |
| 2 | g.237360112G>A | CA431678450 | COL6A3 | c.5640C>T (p.Gly1880=) c.6258C>T (p.Gly2086=) c.4437C>T (p.Gly1479=) c.5658C>T (p.Gly1886=) c.5037C>T (p.Gly1679=) c.5757C>T (p.Gly1919=) c.6255C>T (p.Gly2085=) c.3852C>T (p.Gly1284=) | |
| 2 | g.237360112G>C | CA431678451 | COL6A3 | c.5640C>G (p.Gly1880=) c.6258C>G (p.Gly2086=) c.4437C>G (p.Gly1479=) c.5658C>G (p.Gly1886=) c.5037C>G (p.Gly1679=) c.5757C>G (p.Gly1919=) c.6255C>G (p.Gly2085=) c.3852C>G (p.Gly1284=) | |
| 2 | g.237360112G>T | CA431678452 | COL6A3 | c.5640C>A (p.Gly1880=) c.6258C>A (p.Gly2086=) c.4437C>A (p.Gly1479=) c.5658C>A (p.Gly1886=) c.5037C>A (p.Gly1679=) c.5757C>A (p.Gly1919=) c.6255C>A (p.Gly2085=) c.3852C>A (p.Gly1284=) | gnomAD v4 |
| 2 | g.237360113C>A | CA351216555 | COL6A3 | c.5639G>T (p.Gly1880Val) c.6257G>T (p.Gly2086Val) c.4436G>T (p.Gly1479Val) c.5657G>T (p.Gly1886Val) c.5036G>T (p.Gly1679Val) c.5756G>T (p.Gly1919Val) c.6254G>T (p.Gly2085Val) c.3851G>T (p.Gly1284Val) | ClinVar dbSNP |
| 2 | g.237360113C= | CA1337617816 | COL6A3 | c.5639G= (p.Gly1880=) c.6257G= (p.Gly2086=) c.4436G= (p.Gly1479=) c.5657G= (p.Gly1886=) c.5036G= (p.Gly1679=) c.5756G= (p.Gly1919=) c.6254G= (p.Gly2085=) c.3851G= (p.Gly1284=) | |
| 2 | g.237360113C>G | CA351216557 | COL6A3 | c.5639G>C (p.Gly1880Ala) c.6257G>C (p.Gly2086Ala) c.4436G>C (p.Gly1479Ala) c.5657G>C (p.Gly1886Ala) c.5036G>C (p.Gly1679Ala) c.5756G>C (p.Gly1919Ala) c.6254G>C (p.Gly2085Ala) c.3851G>C (p.Gly1284Ala) | |
| 2 | g.237360113C>T | CA351216558 | COL6A3 | c.5639G>A (p.Gly1880Asp) c.6257G>A (p.Gly2086Asp) c.4436G>A (p.Gly1479Asp) c.5657G>A (p.Gly1886Asp) c.5036G>A (p.Gly1679Asp) c.5756G>A (p.Gly1919Asp) c.6254G>A (p.Gly2085Asp) c.3851G>A (p.Gly1284Asp) | |
| 2 | g.237360114C>A | CA351216560 | COL6A3 | c.5638G>T (p.Gly1880Cys) c.6256G>T (p.Gly2086Cys) c.4435G>T (p.Gly1479Cys) c.5656G>T (p.Gly1886Cys) c.5035G>T (p.Gly1679Cys) c.5755G>T (p.Gly1919Cys) c.6253G>T (p.Gly2085Cys) c.3850G>T (p.Gly1284Cys) | |
| 2 | g.237360114C>G | CA351216562 | COL6A3 | c.5638G>C (p.Gly1880Arg) c.6256G>C (p.Gly2086Arg) c.4435G>C (p.Gly1479Arg) c.5656G>C (p.Gly1886Arg) c.5035G>C (p.Gly1679Arg) c.5755G>C (p.Gly1919Arg) c.6253G>C (p.Gly2085Arg) c.3850G>C (p.Gly1284Arg) | |
| 2 | g.237360114C>T | CA351216564 | COL6A3 | c.5638G>A (p.Gly1880Ser) c.6256G>A (p.Gly2086Ser) c.4435G>A (p.Gly1479Ser) c.5656G>A (p.Gly1886Ser) c.5035G>A (p.Gly1679Ser) c.5755G>A (p.Gly1919Ser) c.6253G>A (p.Gly2085Ser) c.3850G>A (p.Gly1284Ser) | |
| 2 | g.237360115C>A | CA351216570 | COL6A3 | c.5637G>T (p.Gln1879His) c.6255G>T (p.Gln2085His) c.4434G>T (p.Gln1478His) c.5655G>T (p.Gln1885His) c.5034G>T (p.Gln1678His) c.5754G>T (p.Gln1918His) c.6252G>T (p.Gln2084His) c.3849G>T (p.Gln1283His) | |
| 2 | g.237360115C= | CA1337617817 | COL6A3 | c.5637G= (p.Gln1879=) c.6255G= (p.Gln2085=) c.4434G= (p.Gln1478=) c.5655G= (p.Gln1885=) c.5034G= (p.Gln1678=) c.5754G= (p.Gln1918=) c.6252G= (p.Gln2084=) c.3849G= (p.Gln1283=) | |
| 2 | g.237360115C>G | CA351216567 | COL6A3 | c.5637G>C (p.Gln1879His) c.6255G>C (p.Gln2085His) c.4434G>C (p.Gln1478His) c.5655G>C (p.Gln1885His) c.5034G>C (p.Gln1678His) c.5754G>C (p.Gln1918His) c.6252G>C (p.Gln2084His) c.3849G>C (p.Gln1283His) | |
| 2 | g.237360115C>T | CA2188391 | COL6A3 | c.5637G>A (p.Gln1879=) c.6255G>A (p.Gln2085=) c.4434G>A (p.Gln1478=) c.5655G>A (p.Gln1885=) c.5034G>A (p.Gln1678=) c.5754G>A (p.Gln1918=) c.6252G>A (p.Gln2084=) c.3849G>A (p.Gln1283=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360116T>A | CA351216572 | COL6A3 | c.5636A>T (p.Gln1879Leu) c.6254A>T (p.Gln2085Leu) c.4433A>T (p.Gln1478Leu) c.5654A>T (p.Gln1885Leu) c.5033A>T (p.Gln1678Leu) c.5753A>T (p.Gln1918Leu) c.6251A>T (p.Gln2084Leu) c.3848A>T (p.Gln1283Leu) | |
| 2 | g.237360116T>C | CA351216576 | COL6A3 | c.5636A>G (p.Gln1879Arg) c.6254A>G (p.Gln2085Arg) c.4433A>G (p.Gln1478Arg) c.5654A>G (p.Gln1885Arg) c.5033A>G (p.Gln1678Arg) c.5753A>G (p.Gln1918Arg) c.6251A>G (p.Gln2084Arg) c.3848A>G (p.Gln1283Arg) | dbSNP |
| 2 | g.237360116T>G | CA351216578 | COL6A3 | c.5636A>C (p.Gln1879Pro) c.6254A>C (p.Gln2085Pro) c.4433A>C (p.Gln1478Pro) c.5654A>C (p.Gln1885Pro) c.5033A>C (p.Gln1678Pro) c.5753A>C (p.Gln1918Pro) c.6251A>C (p.Gln2084Pro) c.3848A>C (p.Gln1283Pro) | |
| 2 | g.237360116T= | CA1337617818 | COL6A3 | c.5636A= (p.Gln1879=) c.6254A= (p.Gln2085=) c.4433A= (p.Gln1478=) c.5654A= (p.Gln1885=) c.5033A= (p.Gln1678=) c.5753A= (p.Gln1918=) c.6251A= (p.Gln2084=) c.3848A= (p.Gln1283=) | |
| 2 | g.237360117G>A | CA351216581 | COL6A3 | c.5635C>T (p.Gln1879Ter) c.6253C>T (p.Gln2085Ter) c.4432C>T (p.Gln1478Ter) c.5653C>T (p.Gln1885Ter) c.5032C>T (p.Gln1678Ter) c.5752C>T (p.Gln1918Ter) c.6250C>T (p.Gln2084Ter) c.3847C>T (p.Gln1283Ter) | |
| 2 | g.237360117G>C | CA351216584 | COL6A3 | c.5635C>G (p.Gln1879Glu) c.6253C>G (p.Gln2085Glu) c.4432C>G (p.Gln1478Glu) c.5653C>G (p.Gln1885Glu) c.5032C>G (p.Gln1678Glu) c.5752C>G (p.Gln1918Glu) c.6250C>G (p.Gln2084Glu) c.3847C>G (p.Gln1283Glu) | |
| 2 | g.237360117G>T | CA351216585 | COL6A3 | c.5635C>A (p.Gln1879Lys) c.6253C>A (p.Gln2085Lys) c.4432C>A (p.Gln1478Lys) c.5653C>A (p.Gln1885Lys) c.5032C>A (p.Gln1678Lys) c.5752C>A (p.Gln1918Lys) c.6250C>A (p.Gln2084Lys) c.3847C>A (p.Gln1283Lys) | |
| 2 | g.237360118G>A | CA431678453 | COL6A3 | c.5634C>T (p.Phe1878=) c.6252C>T (p.Phe2084=) c.4431C>T (p.Phe1477=) c.5652C>T (p.Phe1884=) c.5031C>T (p.Phe1677=) c.5751C>T (p.Phe1917=) c.6249C>T (p.Phe2083=) c.3846C>T (p.Phe1282=) | gnomAD v4 |
| 2 | g.237360118G>C | CA351216586 | COL6A3 | c.5634C>G (p.Phe1878Leu) c.6252C>G (p.Phe2084Leu) c.4431C>G (p.Phe1477Leu) c.5652C>G (p.Phe1884Leu) c.5031C>G (p.Phe1677Leu) c.5751C>G (p.Phe1917Leu) c.6249C>G (p.Phe2083Leu) c.3846C>G (p.Phe1282Leu) | |
| 2 | g.237360118G>T | CA351216587 | COL6A3 | c.5634C>A (p.Phe1878Leu) c.6252C>A (p.Phe2084Leu) c.4431C>A (p.Phe1477Leu) c.5652C>A (p.Phe1884Leu) c.5031C>A (p.Phe1677Leu) c.5751C>A (p.Phe1917Leu) c.6249C>A (p.Phe2083Leu) c.3846C>A (p.Phe1282Leu) | |
| 2 | g.237360119A>C | CA351216588 | COL6A3 | c.5633T>G (p.Phe1878Cys) c.6251T>G (p.Phe2084Cys) c.4430T>G (p.Phe1477Cys) c.5651T>G (p.Phe1884Cys) c.5030T>G (p.Phe1677Cys) c.5750T>G (p.Phe1917Cys) c.6248T>G (p.Phe2083Cys) c.3845T>G (p.Phe1282Cys) | gnomAD v4 |
| 2 | g.237360119A>G | CA351216589 | COL6A3 | c.5633T>C (p.Phe1878Ser) c.6251T>C (p.Phe2084Ser) c.4430T>C (p.Phe1477Ser) c.5651T>C (p.Phe1884Ser) c.5030T>C (p.Phe1677Ser) c.5750T>C (p.Phe1917Ser) c.6248T>C (p.Phe2083Ser) c.3845T>C (p.Phe1282Ser) | |
| 2 | g.237360119A>T | CA351216590 | COL6A3 | c.5633T>A (p.Phe1878Tyr) c.6251T>A (p.Phe2084Tyr) c.4430T>A (p.Phe1477Tyr) c.5651T>A (p.Phe1884Tyr) c.5030T>A (p.Phe1677Tyr) c.5750T>A (p.Phe1917Tyr) c.6248T>A (p.Phe2083Tyr) c.3845T>A (p.Phe1282Tyr) | |
| 2 | g.237360120A>C | CA351216596 | COL6A3 | c.5632T>G (p.Phe1878Val) c.6250T>G (p.Phe2084Val) c.4429T>G (p.Phe1477Val) c.5650T>G (p.Phe1884Val) c.5029T>G (p.Phe1677Val) c.5749T>G (p.Phe1917Val) c.6247T>G (p.Phe2083Val) c.3844T>G (p.Phe1282Val) | |
| 2 | g.237360120A>G | CA351216594 | COL6A3 | c.5632T>C (p.Phe1878Leu) c.6250T>C (p.Phe2084Leu) c.4429T>C (p.Phe1477Leu) c.5650T>C (p.Phe1884Leu) c.5029T>C (p.Phe1677Leu) c.5749T>C (p.Phe1917Leu) c.6247T>C (p.Phe2083Leu) c.3844T>C (p.Phe1282Leu) | |
| 2 | g.237360120A>T | CA351216592 | COL6A3 | c.5632T>A (p.Phe1878Ile) c.6250T>A (p.Phe2084Ile) c.4429T>A (p.Phe1477Ile) c.5650T>A (p.Phe1884Ile) c.5029T>A (p.Phe1677Ile) c.5749T>A (p.Phe1917Ile) c.6247T>A (p.Phe2083Ile) c.3844T>A (p.Phe1282Ile) | |
| 2 | g.237360121A>C | CA431678454 | COL6A3 | c.5631T>G (p.Gly1877=) c.6249T>G (p.Gly2083=) c.4428T>G (p.Gly1476=) c.5649T>G (p.Gly1883=) c.5028T>G (p.Gly1676=) c.5748T>G (p.Gly1916=) c.6246T>G (p.Gly2082=) c.3843T>G (p.Gly1281=) | |
| 2 | g.237360121A>G | CA431678455 | COL6A3 | c.5631T>C (p.Gly1877=) c.6249T>C (p.Gly2083=) c.4428T>C (p.Gly1476=) c.5649T>C (p.Gly1883=) c.5028T>C (p.Gly1676=) c.5748T>C (p.Gly1916=) c.6246T>C (p.Gly2082=) c.3843T>C (p.Gly1281=) | |
| 2 | g.237360121A>T | CA431678456 | COL6A3 | c.5631T>A (p.Gly1877=) c.6249T>A (p.Gly2083=) c.4428T>A (p.Gly1476=) c.5649T>A (p.Gly1883=) c.5028T>A (p.Gly1676=) c.5748T>A (p.Gly1916=) c.6246T>A (p.Gly2082=) c.3843T>A (p.Gly1281=) | |
| 2 | g.237360122C>A | CA351216598 | COL6A3 | c.5630G>T (p.Gly1877Val) c.6248G>T (p.Gly2083Val) c.4427G>T (p.Gly1476Val) c.5648G>T (p.Gly1883Val) c.5027G>T (p.Gly1676Val) c.5747G>T (p.Gly1916Val) c.6245G>T (p.Gly2082Val) c.3842G>T (p.Gly1281Val) | ClinVar dbSNP |
| 2 | g.237360122C= | CA1337617819 | COL6A3 | c.5630G= (p.Gly1877=) c.6248G= (p.Gly2083=) c.4427G= (p.Gly1476=) c.5648G= (p.Gly1883=) c.5027G= (p.Gly1676=) c.5747G= (p.Gly1916=) c.6245G= (p.Gly2082=) c.3842G= (p.Gly1281=) | |
| 2 | g.237360122C>G | CA351216600 | COL6A3 | c.5630G>C (p.Gly1877Ala) c.6248G>C (p.Gly2083Ala) c.4427G>C (p.Gly1476Ala) c.5648G>C (p.Gly1883Ala) c.5027G>C (p.Gly1676Ala) c.5747G>C (p.Gly1916Ala) c.6245G>C (p.Gly2082Ala) c.3842G>C (p.Gly1281Ala) | |
| 2 | g.237360122C>T | CA351216602 | COL6A3 | c.5630G>A (p.Gly1877Asp) c.6248G>A (p.Gly2083Asp) c.4427G>A (p.Gly1476Asp) c.5648G>A (p.Gly1883Asp) c.5027G>A (p.Gly1676Asp) c.5747G>A (p.Gly1916Asp) c.6245G>A (p.Gly2082Asp) c.3842G>A (p.Gly1281Asp) | ClinVar |
| 2 | g.237360123C>A | CA351216604 | COL6A3 | c.5629G>T (p.Gly1877Cys) c.6247G>T (p.Gly2083Cys) c.4426G>T (p.Gly1476Cys) c.5647G>T (p.Gly1883Cys) c.5026G>T (p.Gly1676Cys) c.5746G>T (p.Gly1916Cys) c.6244G>T (p.Gly2082Cys) c.3841G>T (p.Gly1281Cys) | |
| 2 | g.237360123C>G | CA351216606 | COL6A3 | c.5629G>C (p.Gly1877Arg) c.6247G>C (p.Gly2083Arg) c.4426G>C (p.Gly1476Arg) c.5647G>C (p.Gly1883Arg) c.5026G>C (p.Gly1676Arg) c.5746G>C (p.Gly1916Arg) c.6244G>C (p.Gly2082Arg) c.3841G>C (p.Gly1281Arg) | |
| 2 | g.237360123C>T | CA351216608 | COL6A3 | c.5629G>A (p.Gly1877Ser) c.6247G>A (p.Gly2083Ser) c.4426G>A (p.Gly1476Ser) c.5647G>A (p.Gly1883Ser) c.5026G>A (p.Gly1676Ser) c.5746G>A (p.Gly1916Ser) c.6244G>A (p.Gly2082Ser) c.3841G>A (p.Gly1281Ser) | |
| 2 | g.237360123_237360125del | CA2580066086 | COL6A3 | c.5627_5629del (p.Gln1876_Gly1877delinsArg) c.6245_6247del (p.Gln2082_Gly2083delinsArg) c.4424_4426del (p.Gln1475_Gly1476delinsArg) c.5645_5647del (p.Gln1882_Gly1883delinsArg) c.5024_5026del (p.Gln1675_Gly1676delinsArg) c.5744_5746del (p.Gln1915_Gly1916delinsArg) c.6242_6244del (p.Gln2081_Gly2082delinsArg) c.3839_3841del (p.Gln1280_Gly1281delinsArg) | ClinVar |
| 2 | g.237360124T>A | CA351216610 | COL6A3 | c.5628A>T (p.Gln1876His) c.6246A>T (p.Gln2082His) c.4425A>T (p.Gln1475His) c.5646A>T (p.Gln1882His) c.5025A>T (p.Gln1675His) c.5745A>T (p.Gln1915His) c.6243A>T (p.Gln2081His) c.3840A>T (p.Gln1280His) | |
| 2 | g.237360124T>C | CA431678457 | COL6A3 | c.5628A>G (p.Gln1876=) c.6246A>G (p.Gln2082=) c.4425A>G (p.Gln1475=) c.5646A>G (p.Gln1882=) c.5025A>G (p.Gln1675=) c.5745A>G (p.Gln1915=) c.6243A>G (p.Gln2081=) c.3840A>G (p.Gln1280=) | |
| 2 | g.237360124T>G | CA351216612 | COL6A3 | c.5628A>C (p.Gln1876His) c.6246A>C (p.Gln2082His) c.4425A>C (p.Gln1475His) c.5646A>C (p.Gln1882His) c.5025A>C (p.Gln1675His) c.5745A>C (p.Gln1915His) c.6243A>C (p.Gln2081His) c.3840A>C (p.Gln1280His) | |
| 2 | g.237360125T>A | CA351216615 | COL6A3 | c.5627A>T (p.Gln1876Leu) c.6245A>T (p.Gln2082Leu) c.4424A>T (p.Gln1475Leu) c.5645A>T (p.Gln1882Leu) c.5024A>T (p.Gln1675Leu) c.5744A>T (p.Gln1915Leu) c.6242A>T (p.Gln2081Leu) c.3839A>T (p.Gln1280Leu) | |
| 2 | g.237360125T>C | CA351216616 | COL6A3 | c.5627A>G (p.Gln1876Arg) c.6245A>G (p.Gln2082Arg) c.4424A>G (p.Gln1475Arg) c.5645A>G (p.Gln1882Arg) c.5024A>G (p.Gln1675Arg) c.5744A>G (p.Gln1915Arg) c.6242A>G (p.Gln2081Arg) c.3839A>G (p.Gln1280Arg) | gnomAD v4 |
| 2 | g.237360125T>G | CA351216617 | COL6A3 | c.5627A>C (p.Gln1876Pro) c.6245A>C (p.Gln2082Pro) c.4424A>C (p.Gln1475Pro) c.5645A>C (p.Gln1882Pro) c.5024A>C (p.Gln1675Pro) c.5744A>C (p.Gln1915Pro) c.6242A>C (p.Gln2081Pro) c.3839A>C (p.Gln1280Pro) | ClinVar gnomAD v4 |
| 2 | g.237360126G>A | CA351216620 | COL6A3 | c.5626C>T (p.Gln1876Ter) c.6244C>T (p.Gln2082Ter) c.4423C>T (p.Gln1475Ter) c.5644C>T (p.Gln1882Ter) c.5023C>T (p.Gln1675Ter) c.5743C>T (p.Gln1915Ter) c.6241C>T (p.Gln2081Ter) c.3838C>T (p.Gln1280Ter) | |
| 2 | g.237360126G>C | CA351216619 | COL6A3 | c.5626C>G (p.Gln1876Glu) c.6244C>G (p.Gln2082Glu) c.4423C>G (p.Gln1475Glu) c.5644C>G (p.Gln1882Glu) c.5023C>G (p.Gln1675Glu) c.5743C>G (p.Gln1915Glu) c.6241C>G (p.Gln2081Glu) c.3838C>G (p.Gln1280Glu) | |
| 2 | g.237360126G>T | CA351216618 | COL6A3 | c.5626C>A (p.Gln1876Lys) c.6244C>A (p.Gln2082Lys) c.4423C>A (p.Gln1475Lys) c.5644C>A (p.Gln1882Lys) c.5023C>A (p.Gln1675Lys) c.5743C>A (p.Gln1915Lys) c.6241C>A (p.Gln2081Lys) c.3838C>A (p.Gln1280Lys) | |
| 2 | g.237360127A>C | CA431678458 | COL6A3 | c.5625T>G (p.Thr1875=) c.6243T>G (p.Thr2081=) c.4422T>G (p.Thr1474=) c.5643T>G (p.Thr1881=) c.5022T>G (p.Thr1674=) c.5742T>G (p.Thr1914=) c.6240T>G (p.Thr2080=) c.3837T>G (p.Thr1279=) | gnomAD v4 |
| 2 | g.237360127A>G | CA431678460 | COL6A3 | c.5625T>C (p.Thr1875=) c.6243T>C (p.Thr2081=) c.4422T>C (p.Thr1474=) c.5643T>C (p.Thr1881=) c.5022T>C (p.Thr1674=) c.5742T>C (p.Thr1914=) c.6240T>C (p.Thr2080=) c.3837T>C (p.Thr1279=) | |
| 2 | g.237360127A>T | CA431678459 | COL6A3 | c.5625T>A (p.Thr1875=) c.6243T>A (p.Thr2081=) c.4422T>A (p.Thr1474=) c.5643T>A (p.Thr1881=) c.5022T>A (p.Thr1674=) c.5742T>A (p.Thr1914=) c.6240T>A (p.Thr2080=) c.3837T>A (p.Thr1279=) | |
| 2 | g.237360128G>A | CA351216621 | COL6A3 | c.5624C>T (p.Thr1875Ile) c.6242C>T (p.Thr2081Ile) c.4421C>T (p.Thr1474Ile) c.5642C>T (p.Thr1881Ile) c.5021C>T (p.Thr1674Ile) c.5741C>T (p.Thr1914Ile) c.6239C>T (p.Thr2080Ile) c.3836C>T (p.Thr1279Ile) | |
| 2 | g.237360128G>C | CA351216622 | COL6A3 | c.5624C>G (p.Thr1875Ser) c.6242C>G (p.Thr2081Ser) c.4421C>G (p.Thr1474Ser) c.5642C>G (p.Thr1881Ser) c.5021C>G (p.Thr1674Ser) c.5741C>G (p.Thr1914Ser) c.6239C>G (p.Thr2080Ser) c.3836C>G (p.Thr1279Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.237360128G= | CA1337617820 | COL6A3 | c.5624C= (p.Thr1875=) c.6242C= (p.Thr2081=) c.4421C= (p.Thr1474=) c.5642C= (p.Thr1881=) c.5021C= (p.Thr1674=) c.5741C= (p.Thr1914=) c.6239C= (p.Thr2080=) c.3836C= (p.Thr1279=) | |
| 2 | g.237360128G>T | CA351216623 | COL6A3 | c.5624C>A (p.Thr1875Asn) c.6242C>A (p.Thr2081Asn) c.4421C>A (p.Thr1474Asn) c.5642C>A (p.Thr1881Asn) c.5021C>A (p.Thr1674Asn) c.5741C>A (p.Thr1914Asn) c.6239C>A (p.Thr2080Asn) c.3836C>A (p.Thr1279Asn) | |
| 2 | g.237360129T>A | CA2188392 | COL6A3 | c.5623A>T (p.Thr1875Ser) c.6241A>T (p.Thr2081Ser) c.4420A>T (p.Thr1474Ser) c.5641A>T (p.Thr1881Ser) c.5020A>T (p.Thr1674Ser) c.5740A>T (p.Thr1914Ser) c.6238A>T (p.Thr2080Ser) c.3835A>T (p.Thr1279Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360129T>C | CA351216624 | COL6A3 | c.5623A>G (p.Thr1875Ala) c.6241A>G (p.Thr2081Ala) c.4420A>G (p.Thr1474Ala) c.5641A>G (p.Thr1881Ala) c.5020A>G (p.Thr1674Ala) c.5740A>G (p.Thr1914Ala) c.6238A>G (p.Thr2080Ala) c.3835A>G (p.Thr1279Ala) | gnomAD v4 |
| 2 | g.237360129T>G | CA351216626 | COL6A3 | c.5623A>C (p.Thr1875Pro) c.6241A>C (p.Thr2081Pro) c.4420A>C (p.Thr1474Pro) c.5641A>C (p.Thr1881Pro) c.5020A>C (p.Thr1674Pro) c.5740A>C (p.Thr1914Pro) c.6238A>C (p.Thr2080Pro) c.3835A>C (p.Thr1279Pro) | |
| 2 | g.237360129T= | CA1337617821 | COL6A3 | c.5623A= (p.Thr1875=) c.6241A= (p.Thr2081=) c.4420A= (p.Thr1474=) c.5641A= (p.Thr1881=) c.5020A= (p.Thr1674=) c.5740A= (p.Thr1914=) c.6238A= (p.Thr2080=) c.3835A= (p.Thr1279=) | |
| 2 | g.237360130G>A | CA431678461 | COL6A3 | c.5622C>T (p.Gly1874=) c.6240C>T (p.Gly2080=) c.4419C>T (p.Gly1473=) c.5640C>T (p.Gly1880=) c.5019C>T (p.Gly1673=) c.5739C>T (p.Gly1913=) c.6237C>T (p.Gly2079=) c.3834C>T (p.Gly1278=) | gnomAD v4 |
| 2 | g.237360130G>C | CA431678462 | COL6A3 | c.5622C>G (p.Gly1874=) c.6240C>G (p.Gly2080=) c.4419C>G (p.Gly1473=) c.5640C>G (p.Gly1880=) c.5019C>G (p.Gly1673=) c.5739C>G (p.Gly1913=) c.6237C>G (p.Gly2079=) c.3834C>G (p.Gly1278=) | |
| 2 | g.237360130G>T | CA431678463 | COL6A3 | c.5622C>A (p.Gly1874=) c.6240C>A (p.Gly2080=) c.4419C>A (p.Gly1473=) c.5640C>A (p.Gly1880=) c.5019C>A (p.Gly1673=) c.5739C>A (p.Gly1913=) c.6237C>A (p.Gly2079=) c.3834C>A (p.Gly1278=) | |
| 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) | ClinVar |
| 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 |