OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| 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.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=) | |
| 2 | g.237360145C>A | CA2188396 | COL6A3 | c.5607G>T (p.Pro1869=) c.6225G>T (p.Pro2075=) c.4404G>T (p.Pro1468=) c.5625G>T (p.Pro1875=) c.5004G>T (p.Pro1668=) c.5724G>T (p.Pro1908=) c.6222G>T (p.Pro2074=) c.3819G>T (p.Pro1273=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.237360145C= | CA1337617828 | COL6A3 | c.5607G= (p.Pro1869=) c.6225G= (p.Pro2075=) c.4404G= (p.Pro1468=) c.5625G= (p.Pro1875=) c.5004G= (p.Pro1668=) c.5724G= (p.Pro1908=) c.6222G= (p.Pro2074=) c.3819G= (p.Pro1273=) | |
| 2 | g.237360145C>G | CA431678473 | COL6A3 | c.5607G>C (p.Pro1869=) c.6225G>C (p.Pro2075=) c.4404G>C (p.Pro1468=) c.5625G>C (p.Pro1875=) c.5004G>C (p.Pro1668=) c.5724G>C (p.Pro1908=) c.6222G>C (p.Pro2074=) c.3819G>C (p.Pro1273=) | |
| 2 | g.237360145C>T | CA2188395 | COL6A3 | c.5607G>A (p.Pro1869=) c.6225G>A (p.Pro2075=) c.4404G>A (p.Pro1468=) c.5625G>A (p.Pro1875=) c.5004G>A (p.Pro1668=) c.5724G>A (p.Pro1908=) c.6222G>A (p.Pro2074=) c.3819G>A (p.Pro1273=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360146_237360156del | CA915941785 | COL6A3 | c.5597_5607del (p.Glu1866AlafsTer?) c.6215_6225del (p.Glu2072AlafsTer?) c.4394_4404del (p.Glu1465AlafsTer?) c.5615_5625del (p.Glu1872AlafsTer?) c.4994_5004del (p.Glu1665AlafsTer?) c.5714_5724del (p.Glu1905AlafsTer?) c.6212_6222del (p.Glu2071AlafsTer?) c.3809_3819del (p.Glu1270AlafsTer?) | ClinVar dbSNP |
| 2 | g.237360146G>A | CA2188397 | COL6A3 | c.5606C>T (p.Pro1869Leu) c.6224C>T (p.Pro2075Leu) c.4403C>T (p.Pro1468Leu) c.5624C>T (p.Pro1875Leu) c.5003C>T (p.Pro1668Leu) c.5723C>T (p.Pro1908Leu) c.6221C>T (p.Pro2074Leu) c.3818C>T (p.Pro1273Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360146G>C | CA351216706 | COL6A3 | c.5606C>G (p.Pro1869Arg) c.6224C>G (p.Pro2075Arg) c.4403C>G (p.Pro1468Arg) c.5624C>G (p.Pro1875Arg) c.5003C>G (p.Pro1668Arg) c.5723C>G (p.Pro1908Arg) c.6221C>G (p.Pro2074Arg) c.3818C>G (p.Pro1273Arg) | COSMIC |
| 2 | g.237360146G= | CA1337617829 | COL6A3 | c.5606C= (p.Pro1869=) c.6224C= (p.Pro2075=) c.4403C= (p.Pro1468=) c.5624C= (p.Pro1875=) c.5003C= (p.Pro1668=) c.5723C= (p.Pro1908=) c.6221C= (p.Pro2074=) c.3818C= (p.Pro1273=) | |
| 2 | g.237360146G>T | CA351216707 | COL6A3 | c.5606C>A (p.Pro1869Gln) c.6224C>A (p.Pro2075Gln) c.4403C>A (p.Pro1468Gln) c.5624C>A (p.Pro1875Gln) c.5003C>A (p.Pro1668Gln) c.5723C>A (p.Pro1908Gln) c.6221C>A (p.Pro2074Gln) c.3818C>A (p.Pro1273Gln) | gnomAD v4 |
| 2 | g.237360147G>A | CA351216711 | COL6A3 | c.5605C>T (p.Pro1869Ser) c.6223C>T (p.Pro2075Ser) c.4402C>T (p.Pro1468Ser) c.5623C>T (p.Pro1875Ser) c.5002C>T (p.Pro1668Ser) c.5722C>T (p.Pro1908Ser) c.6220C>T (p.Pro2074Ser) c.3817C>T (p.Pro1273Ser) | |
| 2 | g.237360147G>C | CA351216713 | COL6A3 | c.5605C>G (p.Pro1869Ala) c.6223C>G (p.Pro2075Ala) c.4402C>G (p.Pro1468Ala) c.5623C>G (p.Pro1875Ala) c.5002C>G (p.Pro1668Ala) c.5722C>G (p.Pro1908Ala) c.6220C>G (p.Pro2074Ala) c.3817C>G (p.Pro1273Ala) | |
| 2 | g.237360147G>T | CA351216708 | COL6A3 | c.5605C>A (p.Pro1869Thr) c.6223C>A (p.Pro2075Thr) c.4402C>A (p.Pro1468Thr) c.5623C>A (p.Pro1875Thr) c.5002C>A (p.Pro1668Thr) c.5722C>A (p.Pro1908Thr) c.6220C>A (p.Pro2074Thr) c.3817C>A (p.Pro1273Thr) | |
| 2 | g.237360148A>C | CA431678474 | COL6A3 | c.5604T>G (p.Gly1868=) c.6222T>G (p.Gly2074=) c.4401T>G (p.Gly1467=) c.5622T>G (p.Gly1874=) c.5001T>G (p.Gly1667=) c.5721T>G (p.Gly1907=) c.6219T>G (p.Gly2073=) c.3816T>G (p.Gly1272=) | |
| 2 | g.237360148A>G | CA431678475 | COL6A3 | c.5604T>C (p.Gly1868=) c.6222T>C (p.Gly2074=) c.4401T>C (p.Gly1467=) c.5622T>C (p.Gly1874=) c.5001T>C (p.Gly1667=) c.5721T>C (p.Gly1907=) c.6219T>C (p.Gly2073=) c.3816T>C (p.Gly1272=) | gnomAD v4 |
| 2 | g.237360148A>T | CA431678476 | COL6A3 | c.5604T>A (p.Gly1868=) c.6222T>A (p.Gly2074=) c.4401T>A (p.Gly1467=) c.5622T>A (p.Gly1874=) c.5001T>A (p.Gly1667=) c.5721T>A (p.Gly1907=) c.6219T>A (p.Gly2073=) c.3816T>A (p.Gly1272=) | |
| 2 | g.237360149C>A | CA351216715 | COL6A3 | c.5603G>T (p.Gly1868Val) c.6221G>T (p.Gly2074Val) c.4400G>T (p.Gly1467Val) c.5621G>T (p.Gly1874Val) c.5000G>T (p.Gly1667Val) c.5720G>T (p.Gly1907Val) c.6218G>T (p.Gly2073Val) c.3815G>T (p.Gly1272Val) | |
| 2 | g.237360149C>G | CA351216716 | COL6A3 | c.5603G>C (p.Gly1868Ala) c.6221G>C (p.Gly2074Ala) c.4400G>C (p.Gly1467Ala) c.5621G>C (p.Gly1874Ala) c.5000G>C (p.Gly1667Ala) c.5720G>C (p.Gly1907Ala) c.6218G>C (p.Gly2073Ala) c.3815G>C (p.Gly1272Ala) | |
| 2 | g.237360149C>T | CA351216717 | COL6A3 | c.5603G>A (p.Gly1868Asp) c.6221G>A (p.Gly2074Asp) c.4400G>A (p.Gly1467Asp) c.5621G>A (p.Gly1874Asp) c.5000G>A (p.Gly1667Asp) c.5720G>A (p.Gly1907Asp) c.6218G>A (p.Gly2073Asp) c.3815G>A (p.Gly1272Asp) | ClinVar |
| 2 | g.237360150C>A | CA351216718 | COL6A3 | c.5602G>T (p.Gly1868Cys) c.6220G>T (p.Gly2074Cys) c.4399G>T (p.Gly1467Cys) c.5620G>T (p.Gly1874Cys) c.4999G>T (p.Gly1667Cys) c.5719G>T (p.Gly1907Cys) c.6217G>T (p.Gly2073Cys) c.3814G>T (p.Gly1272Cys) | |
| 2 | g.237360150C= | CA1337617830 | COL6A3 | c.5602G= (p.Gly1868=) c.6220G= (p.Gly2074=) c.4399G= (p.Gly1467=) c.5620G= (p.Gly1874=) c.4999G= (p.Gly1667=) c.5719G= (p.Gly1907=) c.6217G= (p.Gly2073=) c.3814G= (p.Gly1272=) | |
| 2 | g.237360150C>G | CA351216720 | COL6A3 | c.5602G>C (p.Gly1868Arg) c.6220G>C (p.Gly2074Arg) c.4399G>C (p.Gly1467Arg) c.5620G>C (p.Gly1874Arg) c.4999G>C (p.Gly1667Arg) c.5719G>C (p.Gly1907Arg) c.6217G>C (p.Gly2073Arg) c.3814G>C (p.Gly1272Arg) | |
| 2 | g.237360150C>T | CA10606535 | COL6A3 | c.5602G>A (p.Gly1868Ser) c.6220G>A (p.Gly2074Ser) c.4399G>A (p.Gly1467Ser) c.5620G>A (p.Gly1874Ser) c.4999G>A (p.Gly1667Ser) c.5719G>A (p.Gly1907Ser) c.6217G>A (p.Gly2073Ser) c.3814G>A (p.Gly1272Ser) | ClinVar dbSNP |
| 2 | g.237360151A>C | CA431678477 | COL6A3 | c.5601T>G (p.Arg1867=) c.6219T>G (p.Arg2073=) c.4398T>G (p.Arg1466=) c.5619T>G (p.Arg1873=) c.4998T>G (p.Arg1666=) c.5718T>G (p.Arg1906=) c.6216T>G (p.Arg2072=) c.3813T>G (p.Arg1271=) | |
| 2 | g.237360151A>G | CA431678478 | COL6A3 | c.5601T>C (p.Arg1867=) c.6219T>C (p.Arg2073=) c.4398T>C (p.Arg1466=) c.5619T>C (p.Arg1873=) c.4998T>C (p.Arg1666=) c.5718T>C (p.Arg1906=) c.6216T>C (p.Arg2072=) c.3813T>C (p.Arg1271=) | |
| 2 | g.237360151A>T | CA431678479 | COL6A3 | c.5601T>A (p.Arg1867=) c.6219T>A (p.Arg2073=) c.4398T>A (p.Arg1466=) c.5619T>A (p.Arg1873=) c.4998T>A (p.Arg1666=) c.5718T>A (p.Arg1906=) c.6216T>A (p.Arg2072=) c.3813T>A (p.Arg1271=) | |
| 2 | g.237360152C>A | CA351216726 | COL6A3 | c.5600G>T (p.Arg1867Leu) c.6218G>T (p.Arg2073Leu) c.4397G>T (p.Arg1466Leu) c.5618G>T (p.Arg1873Leu) c.4997G>T (p.Arg1666Leu) c.5717G>T (p.Arg1906Leu) c.6215G>T (p.Arg2072Leu) c.3812G>T (p.Arg1271Leu) | |
| 2 | g.237360152C= | CA1337617831 | COL6A3 | c.5600G= (p.Arg1867=) c.6218G= (p.Arg2073=) c.4397G= (p.Arg1466=) c.5618G= (p.Arg1873=) c.4997G= (p.Arg1666=) c.5717G= (p.Arg1906=) c.6215G= (p.Arg2072=) c.3812G= (p.Arg1271=) | |
| 2 | g.237360152C>G | CA351216734 | COL6A3 | c.5600G>C (p.Arg1867Pro) c.6218G>C (p.Arg2073Pro) c.4397G>C (p.Arg1466Pro) c.5618G>C (p.Arg1873Pro) c.4997G>C (p.Arg1666Pro) c.5717G>C (p.Arg1906Pro) c.6215G>C (p.Arg2072Pro) c.3812G>C (p.Arg1271Pro) | |
| 2 | g.237360152C>T | CA2188398 | COL6A3 | c.5600G>A (p.Arg1867His) c.6218G>A (p.Arg2073His) c.4397G>A (p.Arg1466His) c.5618G>A (p.Arg1873His) c.4997G>A (p.Arg1666His) c.5717G>A (p.Arg1906His) c.6215G>A (p.Arg2072His) c.3812G>A (p.Arg1271His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.237360153G>A | CA351216740 | COL6A3 | c.5599C>T (p.Arg1867Cys) c.6217C>T (p.Arg2073Cys) c.4396C>T (p.Arg1466Cys) c.5617C>T (p.Arg1873Cys) c.4996C>T (p.Arg1666Cys) c.5716C>T (p.Arg1906Cys) c.6214C>T (p.Arg2072Cys) c.3811C>T (p.Arg1271Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.237360153G>C | CA351216746 | COL6A3 | c.5599C>G (p.Arg1867Gly) c.6217C>G (p.Arg2073Gly) c.4396C>G (p.Arg1466Gly) c.5617C>G (p.Arg1873Gly) c.4996C>G (p.Arg1666Gly) c.5716C>G (p.Arg1906Gly) c.6214C>G (p.Arg2072Gly) c.3811C>G (p.Arg1271Gly) | |
| 2 | g.237360153G= | CA1337617832 | COL6A3 | c.5599C= (p.Arg1867=) c.6217C= (p.Arg2073=) c.4396C= (p.Arg1466=) c.5617C= (p.Arg1873=) c.4996C= (p.Arg1666=) c.5716C= (p.Arg1906=) c.6214C= (p.Arg2072=) c.3811C= (p.Arg1271=) | |
| 2 | g.237360153G>T | CA351216747 | COL6A3 | c.5599C>A (p.Arg1867Ser) c.6217C>A (p.Arg2073Ser) c.4396C>A (p.Arg1466Ser) c.5617C>A (p.Arg1873Ser) c.4996C>A (p.Arg1666Ser) c.5716C>A (p.Arg1906Ser) c.6214C>A (p.Arg2072Ser) c.3811C>A (p.Arg1271Ser) | |
| 2 | g.237360154C>A | CA351216753 | COL6A3 | c.5598G>T (p.Glu1866Asp) c.6216G>T (p.Glu2072Asp) c.4395G>T (p.Glu1465Asp) c.5616G>T (p.Glu1872Asp) c.4995G>T (p.Glu1665Asp) c.5715G>T (p.Glu1905Asp) c.6213G>T (p.Glu2071Asp) c.3810G>T (p.Glu1270Asp) | dbSNP gnomAD v4 |
| 2 | g.237360154C= | CA1337617833 | COL6A3 | c.5598G= (p.Glu1866=) c.6216G= (p.Glu2072=) c.4395G= (p.Glu1465=) c.5616G= (p.Glu1872=) c.4995G= (p.Glu1665=) c.5715G= (p.Glu1905=) c.6213G= (p.Glu2071=) c.3810G= (p.Glu1270=) | |
| 2 | g.237360154C>G | CA351216751 | COL6A3 | c.5598G>C (p.Glu1866Asp) c.6216G>C (p.Glu2072Asp) c.4395G>C (p.Glu1465Asp) c.5616G>C (p.Glu1872Asp) c.4995G>C (p.Glu1665Asp) c.5715G>C (p.Glu1905Asp) c.6213G>C (p.Glu2071Asp) c.3810G>C (p.Glu1270Asp) | |
| 2 | g.237360154C>T | CA431678480 | COL6A3 | c.5598G>A (p.Glu1866=) c.6216G>A (p.Glu2072=) c.4395G>A (p.Glu1465=) c.5616G>A (p.Glu1872=) c.4995G>A (p.Glu1665=) c.5715G>A (p.Glu1905=) c.6213G>A (p.Glu2071=) c.3810G>A (p.Glu1270=) | gnomAD v4 |
| 2 | g.237360155T>A | CA351216754 | COL6A3 | c.5597A>T (p.Glu1866Val) c.6215A>T (p.Glu2072Val) c.4394A>T (p.Glu1465Val) c.5615A>T (p.Glu1872Val) c.4994A>T (p.Glu1665Val) c.5714A>T (p.Glu1905Val) c.6212A>T (p.Glu2071Val) c.3809A>T (p.Glu1270Val) | |
| 2 | g.237360155T>C | CA351216756 | COL6A3 | c.5597A>G (p.Glu1866Gly) c.6215A>G (p.Glu2072Gly) c.4394A>G (p.Glu1465Gly) c.5615A>G (p.Glu1872Gly) c.4994A>G (p.Glu1665Gly) c.5714A>G (p.Glu1905Gly) c.6212A>G (p.Glu2071Gly) c.3809A>G (p.Glu1270Gly) | gnomAD v4 |
| 2 | g.237360155T>G | CA351216761 | COL6A3 | c.5597A>C (p.Glu1866Ala) c.6215A>C (p.Glu2072Ala) c.4394A>C (p.Glu1465Ala) c.5615A>C (p.Glu1872Ala) c.4994A>C (p.Glu1665Ala) c.5714A>C (p.Glu1905Ala) c.6212A>C (p.Glu2071Ala) c.3809A>C (p.Glu1270Ala) | |
| 2 | g.237360156C>A | CA351216766 | COL6A3 | c.5596G>T (p.Glu1866Ter) c.6214G>T (p.Glu2072Ter) c.4393G>T (p.Glu1465Ter) c.5614G>T (p.Glu1872Ter) c.4993G>T (p.Glu1665Ter) c.5713G>T (p.Glu1905Ter) c.6211G>T (p.Glu2071Ter) c.3808G>T (p.Glu1270Ter) | |
| 2 | g.237360156C>G | CA351216768 | COL6A3 | c.5596G>C (p.Glu1866Gln) c.6214G>C (p.Glu2072Gln) c.4393G>C (p.Glu1465Gln) c.5614G>C (p.Glu1872Gln) c.4993G>C (p.Glu1665Gln) c.5713G>C (p.Glu1905Gln) c.6211G>C (p.Glu2071Gln) c.3808G>C (p.Glu1270Gln) | |
| 2 | g.237360156C>T | CA351216771 | COL6A3 | c.5596G>A (p.Glu1866Lys) c.6214G>A (p.Glu2072Lys) c.4393G>A (p.Glu1465Lys) c.5614G>A (p.Glu1872Lys) c.4993G>A (p.Glu1665Lys) c.5713G>A (p.Glu1905Lys) c.6211G>A (p.Glu2071Lys) c.3808G>A (p.Glu1270Lys) | gnomAD v4 |
| 2 | g.237360159_237360160insGGGTCCACC | CA2754787338 | COL6A3 | c.5596_5597insGACCCGGTG (p.Gly1865_Glu1866insGlyProGly) c.6214_6215insGACCCGGTG (p.Gly2071_Glu2072insGlyProGly) c.4393_4394insGACCCGGTG (p.Gly1464_Glu1465insGlyProGly) c.5614_5615insGACCCGGTG (p.Gly1871_Glu1872insGlyProGly) c.4993_4994insGACCCGGTG (p.Gly1664_Glu1665insGlyProGly) c.5713_5714insGACCCGGTG (p.Gly1904_Glu1905insGlyProGly) c.6211_6212insGACCCGGTG (p.Gly2070_Glu2071insGlyProGly) c.3808_3809insGACCCGGTG (p.Gly1269_Glu1270insGlyProGly) | |
| 2 | g.237360157A>C | CA431678481 | COL6A3 | c.5595T>G (p.Gly1865=) c.6213T>G (p.Gly2071=) c.4392T>G (p.Gly1464=) c.5613T>G (p.Gly1871=) c.4992T>G (p.Gly1664=) c.5712T>G (p.Gly1904=) c.6210T>G (p.Gly2070=) c.3807T>G (p.Gly1269=) | COSMIC |
| 2 | g.237360157A>G | CA431678482 | COL6A3 | c.5595T>C (p.Gly1865=) c.6213T>C (p.Gly2071=) c.4392T>C (p.Gly1464=) c.5613T>C (p.Gly1871=) c.4992T>C (p.Gly1664=) c.5712T>C (p.Gly1904=) c.6210T>C (p.Gly2070=) c.3807T>C (p.Gly1269=) | ClinVar gnomAD v4 |
| 2 | g.237360157A>T | CA431678483 | COL6A3 | c.5595T>A (p.Gly1865=) c.6213T>A (p.Gly2071=) c.4392T>A (p.Gly1464=) c.5613T>A (p.Gly1871=) c.4992T>A (p.Gly1664=) c.5712T>A (p.Gly1904=) c.6210T>A (p.Gly2070=) c.3807T>A (p.Gly1269=) | |
| 2 | g.237360158C>A | CA351216772 | COL6A3 | c.5594G>T (p.Gly1865Val) c.6212G>T (p.Gly2071Val) c.4391G>T (p.Gly1464Val) c.5612G>T (p.Gly1871Val) c.4991G>T (p.Gly1664Val) c.5711G>T (p.Gly1904Val) c.6209G>T (p.Gly2070Val) c.3806G>T (p.Gly1269Val) | |
| 2 | g.237360158C= | CA1337617834 | COL6A3 | c.5594G= (p.Gly1865=) c.6212G= (p.Gly2071=) c.4391G= (p.Gly1464=) c.5612G= (p.Gly1871=) c.4991G= (p.Gly1664=) c.5711G= (p.Gly1904=) c.6209G= (p.Gly2070=) c.3806G= (p.Gly1269=) | |
| 2 | g.237360158C>G | CA351216773 | COL6A3 | c.5594G>C (p.Gly1865Ala) c.6212G>C (p.Gly2071Ala) c.4391G>C (p.Gly1464Ala) c.5612G>C (p.Gly1871Ala) c.4991G>C (p.Gly1664Ala) c.5711G>C (p.Gly1904Ala) c.6209G>C (p.Gly2070Ala) c.3806G>C (p.Gly1269Ala) | |
| 2 | g.237360158C>T | CA10605883 | COL6A3 | c.5594G>A (p.Gly1865Asp) c.6212G>A (p.Gly2071Asp) c.4391G>A (p.Gly1464Asp) c.5612G>A (p.Gly1871Asp) c.4991G>A (p.Gly1664Asp) c.5711G>A (p.Gly1904Asp) c.6209G>A (p.Gly2070Asp) c.3806G>A (p.Gly1269Asp) | ClinVar dbSNP |
| 2 | g.237360159C>A | CA351216776 | COL6A3 | c.5593G>T (p.Gly1865Cys) c.6211G>T (p.Gly2071Cys) c.4390G>T (p.Gly1464Cys) c.5611G>T (p.Gly1871Cys) c.4990G>T (p.Gly1664Cys) c.5710G>T (p.Gly1904Cys) c.6208G>T (p.Gly2070Cys) c.3805G>T (p.Gly1269Cys) | ClinVar dbSNP |
| 2 | g.237360159C>G | CA351216779 | COL6A3 | c.5593G>C (p.Gly1865Arg) c.6211G>C (p.Gly2071Arg) c.4390G>C (p.Gly1464Arg) c.5611G>C (p.Gly1871Arg) c.4990G>C (p.Gly1664Arg) c.5710G>C (p.Gly1904Arg) c.6208G>C (p.Gly2070Arg) c.3805G>C (p.Gly1269Arg) | |
| 2 | g.237360159C>T | CA351216784 | COL6A3 | c.5593G>A (p.Gly1865Ser) c.6211G>A (p.Gly2071Ser) c.4390G>A (p.Gly1464Ser) c.5611G>A (p.Gly1871Ser) c.4990G>A (p.Gly1664Ser) c.5710G>A (p.Gly1904Ser) c.6208G>A (p.Gly2070Ser) c.3805G>A (p.Gly1269Ser) | gnomAD v4 |
| 2 | g.237360160C>A | CA351216795 | COL6A3 | c.5593-1G>T (n.5593-1G>T) c.6211-1G>T (n.6211-1G>T) c.4390-1G>T (n.4390-1G>T) c.5611-1G>T (n.5611-1G>T) c.4990-1G>T (n.4990-1G>T) c.5710-1G>T (n.5710-1G>T) c.6208-1G>T (n.6208-1G>T) c.3805-1G>T (n.3805-1G>T) | |
| 2 | g.237360160C>G | CA351216793 | COL6A3 | c.5593-1G>C (n.5593-1G>C) c.6211-1G>C (n.6211-1G>C) c.4390-1G>C (n.4390-1G>C) c.5611-1G>C (n.5611-1G>C) c.4990-1G>C (n.4990-1G>C) c.5710-1G>C (n.5710-1G>C) c.6208-1G>C (n.6208-1G>C) c.3805-1G>C (n.3805-1G>C) | |
| 2 | g.237360160C>T | CA351216787 | COL6A3 | c.5593-1G>A (n.5593-1G>A) c.6211-1G>A (n.6211-1G>A) c.4390-1G>A (n.4390-1G>A) c.5611-1G>A (n.5611-1G>A) c.4990-1G>A (n.4990-1G>A) c.5710-1G>A (n.5710-1G>A) c.6208-1G>A (n.6208-1G>A) c.3805-1G>A (n.3805-1G>A) | |
| 2 | g.237360161T>A | CA351216798 | COL6A3 | c.5593-2A>T (n.5593-2A>T) c.6211-2A>T (n.6211-2A>T) c.4390-2A>T (n.4390-2A>T) c.5611-2A>T (n.5611-2A>T) c.4990-2A>T (n.4990-2A>T) c.5710-2A>T (n.5710-2A>T) c.6208-2A>T (n.6208-2A>T) c.3805-2A>T (n.3805-2A>T) | |
| 2 | g.237360161T>C | CA351216802 | COL6A3 | c.5593-2A>G (n.5593-2A>G) c.6211-2A>G (n.6211-2A>G) c.4390-2A>G (n.4390-2A>G) c.5611-2A>G (n.5611-2A>G) c.4990-2A>G (n.4990-2A>G) c.5710-2A>G (n.5710-2A>G) c.6208-2A>G (n.6208-2A>G) c.3805-2A>G (n.3805-2A>G) | |
| 2 | g.237360161T>G | CA351216800 | COL6A3 | c.5593-2A>C (n.5593-2A>C) c.6211-2A>C (n.6211-2A>C) c.4390-2A>C (n.4390-2A>C) c.5611-2A>C (n.5611-2A>C) c.4990-2A>C (n.4990-2A>C) c.5710-2A>C (n.5710-2A>C) c.6208-2A>C (n.6208-2A>C) c.3805-2A>C (n.3805-2A>C) | |
| 2 | g.237360162G>A | CA147990 | COL6A3 | c.5593-3C>T (n.5593-3C>T) c.6211-3C>T (n.6211-3C>T) c.4390-3C>T (n.4390-3C>T) c.5611-3C>T (n.5611-3C>T) c.4990-3C>T (n.4990-3C>T) c.5710-3C>T (n.5710-3C>T) c.6208-3C>T (n.6208-3C>T) c.3805-3C>T (n.3805-3C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360162G>C | CA2554071064 | COL6A3 | c.5593-3C>G (n.5593-3C>G) c.6211-3C>G (n.6211-3C>G) c.4390-3C>G (n.4390-3C>G) c.5611-3C>G (n.5611-3C>G) c.4990-3C>G (n.4990-3C>G) c.5710-3C>G (n.5710-3C>G) c.6208-3C>G (n.6208-3C>G) c.3805-3C>G (n.3805-3C>G) | |
| 2 | g.237360162G= | CA1337617835 | COL6A3 | c.5593-3C= (n.5593-3C=) c.6211-3C= (n.6211-3C=) c.4390-3C= (n.4390-3C=) c.5611-3C= (n.5611-3C=) c.4990-3C= (n.4990-3C=) c.5710-3C= (n.5710-3C=) c.6208-3C= (n.6208-3C=) c.3805-3C= (n.3805-3C=) | |
| 2 | g.237360163T>C | CA222637 | COL6A3 | c.5593-4A>G (n.5593-4A>G) c.6211-4A>G (n.6211-4A>G) c.4390-4A>G (n.4390-4A>G) c.5611-4A>G (n.5611-4A>G) c.4990-4A>G (n.4990-4A>G) c.5710-4A>G (n.5710-4A>G) c.6208-4A>G (n.6208-4A>G) c.3805-4A>G (n.3805-4A>G) | ClinVar dbSNP gnomAD v2 |
| 2 | g.237360163T= | CA1337617836 | COL6A3 | c.5593-4A= (n.5593-4A=) c.6211-4A= (n.6211-4A=) c.4390-4A= (n.4390-4A=) c.5611-4A= (n.5611-4A=) c.4990-4A= (n.4990-4A=) c.5710-4A= (n.5710-4A=) c.6208-4A= (n.6208-4A=) c.3805-4A= (n.3805-4A=) | |
| 2 | g.237360164T>C | CA1337617838 | COL6A3 | c.5593-5A>G (n.5593-5A>G) c.6211-5A>G (n.6211-5A>G) c.4390-5A>G (n.4390-5A>G) c.5611-5A>G (n.5611-5A>G) c.4990-5A>G (n.4990-5A>G) c.5710-5A>G (n.5710-5A>G) c.6208-5A>G (n.6208-5A>G) c.3805-5A>G (n.3805-5A>G) | dbSNP gnomAD v4 |
| 2 | g.237360164T= | CA1337617837 | COL6A3 | c.5593-5A= (n.5593-5A=) c.6211-5A= (n.6211-5A=) c.4390-5A= (n.4390-5A=) c.5611-5A= (n.5611-5A=) c.4990-5A= (n.4990-5A=) c.5710-5A= (n.5710-5A=) c.6208-5A= (n.6208-5A=) c.3805-5A= (n.3805-5A=) | |
| 2 | g.237360165G>A | CA766577639 | COL6A3 | c.5593-6C>T (n.5593-6C>T) c.6211-6C>T (n.6211-6C>T) c.4390-6C>T (n.4390-6C>T) c.5611-6C>T (n.5611-6C>T) c.4990-6C>T (n.4990-6C>T) c.5710-6C>T (n.5710-6C>T) c.6208-6C>T (n.6208-6C>T) c.3805-6C>T (n.3805-6C>T) | dbSNP |
| 2 | g.237360165G= | CA1337617839 | COL6A3 | c.5593-6C= (n.5593-6C=) c.6211-6C= (n.6211-6C=) c.4390-6C= (n.4390-6C=) c.5611-6C= (n.5611-6C=) c.4990-6C= (n.4990-6C=) c.5710-6C= (n.5710-6C=) c.6208-6C= (n.6208-6C=) c.3805-6C= (n.3805-6C=) | |
| 2 | g.237360166T>C | CA2577289838 | COL6A3 | c.5593-7A>G (n.5593-7A>G) c.6211-7A>G (n.6211-7A>G) c.4390-7A>G (n.4390-7A>G) c.5611-7A>G (n.5611-7A>G) c.4990-7A>G (n.4990-7A>G) c.5710-7A>G (n.5710-7A>G) c.6208-7A>G (n.6208-7A>G) c.3805-7A>G (n.3805-7A>G) | |
| 2 | g.237360166T>G | CA2663795132 | COL6A3 | c.5593-7A>C (n.5593-7A>C) c.6211-7A>C (n.6211-7A>C) c.4390-7A>C (n.4390-7A>C) c.5611-7A>C (n.5611-7A>C) c.4990-7A>C (n.4990-7A>C) c.5710-7A>C (n.5710-7A>C) c.6208-7A>C (n.6208-7A>C) c.3805-7A>C (n.3805-7A>C) | gnomAD v4 |
| 2 | g.237360167G>A | CA2533085252 | COL6A3 | c.5593-8C>T (n.5593-8C>T) c.6211-8C>T (n.6211-8C>T) c.4390-8C>T (n.4390-8C>T) c.5611-8C>T (n.5611-8C>T) c.4990-8C>T (n.4990-8C>T) c.5710-8C>T (n.5710-8C>T) c.6208-8C>T (n.6208-8C>T) c.3805-8C>T (n.3805-8C>T) | |
| 2 | g.237360167_237360168delinsGA | CA1337617840 | COL6A3 | c.5593-9_5593-8delinsTC (n.5593-9_5593-8delinsTC) c.6211-9_6211-8delinsTC (n.6211-9_6211-8delinsTC) c.4390-9_4390-8delinsTC (n.4390-9_4390-8delinsTC) c.5611-9_5611-8delinsTC (n.5611-9_5611-8delinsTC) c.4990-9_4990-8delinsTC (n.4990-9_4990-8delinsTC) c.5710-9_5710-8delinsTC (n.5710-9_5710-8delinsTC) c.6208-9_6208-8delinsTC (n.6208-9_6208-8delinsTC) c.3805-9_3805-8delinsTC (n.3805-9_3805-8delinsTC) | |
| 2 | g.237360168del | CA540464047 | COL6A3 | c.5593-9del (n.5593-9del) c.6211-9del (n.6211-9del) c.4390-9del (n.4390-9del) c.5611-9del (n.5611-9del) c.4990-9del (n.4990-9del) c.5710-9del (n.5710-9del) c.6208-9del (n.6208-9del) c.3805-9del (n.3805-9del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360170A>T | CA2580066087 | COL6A3 | c.5593-11T>A (n.5593-11T>A) c.6211-11T>A (n.6211-11T>A) c.4390-11T>A (n.4390-11T>A) c.5611-11T>A (n.5611-11T>A) c.4990-11T>A (n.4990-11T>A) c.5710-11T>A (n.5710-11T>A) c.6208-11T>A (n.6208-11T>A) c.3805-11T>A (n.3805-11T>A) | ClinVar gnomAD v4 |
| 2 | g.237360171G>A | CA1043803565 | COL6A3 | c.5593-12C>T (n.5593-12C>T) c.6211-12C>T (n.6211-12C>T) c.4390-12C>T (n.4390-12C>T) c.5611-12C>T (n.5611-12C>T) c.4990-12C>T (n.4990-12C>T) c.5710-12C>T (n.5710-12C>T) c.6208-12C>T (n.6208-12C>T) c.3805-12C>T (n.3805-12C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.237360171G>C | CA766577645 | COL6A3 | c.5593-12C>G (n.5593-12C>G) c.6211-12C>G (n.6211-12C>G) c.4390-12C>G (n.4390-12C>G) c.5611-12C>G (n.5611-12C>G) c.4990-12C>G (n.4990-12C>G) c.5710-12C>G (n.5710-12C>G) c.6208-12C>G (n.6208-12C>G) c.3805-12C>G (n.3805-12C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.237360171G= | CA1337617841 | COL6A3 | c.5593-12C= (n.5593-12C=) c.6211-12C= (n.6211-12C=) c.4390-12C= (n.4390-12C=) c.5611-12C= (n.5611-12C=) c.4990-12C= (n.4990-12C=) c.5710-12C= (n.5710-12C=) c.6208-12C= (n.6208-12C=) c.3805-12C= (n.3805-12C=) | |
| 2 | g.237360172A= | CA1337617842 | COL6A3 | c.5593-13T= (n.5593-13T=) c.6211-13T= (n.6211-13T=) c.4390-13T= (n.4390-13T=) c.5611-13T= (n.5611-13T=) c.4990-13T= (n.4990-13T=) c.5710-13T= (n.5710-13T=) c.6208-13T= (n.6208-13T=) c.3805-13T= (n.3805-13T=) | |
| 2 | g.237360172A>G | CA2188399 | COL6A3 | c.5593-13T>C (n.5593-13T>C) c.6211-13T>C (n.6211-13T>C) c.4390-13T>C (n.4390-13T>C) c.5611-13T>C (n.5611-13T>C) c.4990-13T>C (n.4990-13T>C) c.5710-13T>C (n.5710-13T>C) c.6208-13T>C (n.6208-13T>C) c.3805-13T>C (n.3805-13T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360172A>T | CA2663795135 | COL6A3 | c.5593-13T>A (n.5593-13T>A) c.6211-13T>A (n.6211-13T>A) c.4390-13T>A (n.4390-13T>A) c.5611-13T>A (n.5611-13T>A) c.4990-13T>A (n.4990-13T>A) c.5710-13T>A (n.5710-13T>A) c.6208-13T>A (n.6208-13T>A) c.3805-13T>A (n.3805-13T>A) | gnomAD v4 |
| 2 | g.237360172_237360182delinsACAAAGGCATT | CA1337617843 | COL6A3 | c.5593-23_5593-13delinsAATGCCTTTGT (n.5593-23_5593-13delinsAATGCCTTTGT) c.6211-23_6211-13delinsAATGCCTTTGT (n.6211-23_6211-13delinsAATGCCTTTGT) c.4390-23_4390-13delinsAATGCCTTTGT (n.4390-23_4390-13delinsAATGCCTTTGT) c.5611-23_5611-13delinsAATGCCTTTGT (n.5611-23_5611-13delinsAATGCCTTTGT) c.4990-23_4990-13delinsAATGCCTTTGT (n.4990-23_4990-13delinsAATGCCTTTGT) c.5710-23_5710-13delinsAATGCCTTTGT (n.5710-23_5710-13delinsAATGCCTTTGT) c.6208-23_6208-13delinsAATGCCTTTGT (n.6208-23_6208-13delinsAATGCCTTTGT) c.3805-23_3805-13delinsAATGCCTTTGT (n.3805-23_3805-13delinsAATGCCTTTGT) | |
| 2 | g.237360173C>A | CA2663795137 | COL6A3 | c.5593-14G>T (n.5593-14G>T) c.6211-14G>T (n.6211-14G>T) c.4390-14G>T (n.4390-14G>T) c.5611-14G>T (n.5611-14G>T) c.4990-14G>T (n.4990-14G>T) c.5710-14G>T (n.5710-14G>T) c.6208-14G>T (n.6208-14G>T) c.3805-14G>T (n.3805-14G>T) | gnomAD v4 |
| 2 | g.237360173C= | CA1337617844 | COL6A3 | c.5593-14G= (n.5593-14G=) c.6211-14G= (n.6211-14G=) c.4390-14G= (n.4390-14G=) c.5611-14G= (n.5611-14G=) c.4990-14G= (n.4990-14G=) c.5710-14G= (n.5710-14G=) c.6208-14G= (n.6208-14G=) c.3805-14G= (n.3805-14G=) | |
| 2 | g.237360173C>T | CA540464053 | COL6A3 | c.5593-14G>A (n.5593-14G>A) c.6211-14G>A (n.6211-14G>A) c.4390-14G>A (n.4390-14G>A) c.5611-14G>A (n.5611-14G>A) c.4990-14G>A (n.4990-14G>A) c.5710-14G>A (n.5710-14G>A) c.6208-14G>A (n.6208-14G>A) c.3805-14G>A (n.3805-14G>A) | dbSNP gnomAD v2 |
| 2 | g.237360173_237360182delinsGCAAAA | CA10612839 | COL6A3 | c.5593-23_5593-14delinsTTTTGC (n.5593-23_5593-14delinsTTTTGC) c.6211-23_6211-14delinsTTTTGC (n.6211-23_6211-14delinsTTTTGC) c.4390-23_4390-14delinsTTTTGC (n.4390-23_4390-14delinsTTTTGC) c.5611-23_5611-14delinsTTTTGC (n.5611-23_5611-14delinsTTTTGC) c.4990-23_4990-14delinsTTTTGC (n.4990-23_4990-14delinsTTTTGC) c.5710-23_5710-14delinsTTTTGC (n.5710-23_5710-14delinsTTTTGC) c.6208-23_6208-14delinsTTTTGC (n.6208-23_6208-14delinsTTTTGC) c.3805-23_3805-14delinsTTTTGC (n.3805-23_3805-14delinsTTTTGC) | ClinVar dbSNP |
| 2 | g.237360174A>G | CA2754787339 | COL6A3 | c.5593-15T>C (n.5593-15T>C) c.6211-15T>C (n.6211-15T>C) c.4390-15T>C (n.4390-15T>C) c.5611-15T>C (n.5611-15T>C) c.4990-15T>C (n.4990-15T>C) c.5710-15T>C (n.5710-15T>C) c.6208-15T>C (n.6208-15T>C) c.3805-15T>C (n.3805-15T>C) | |
| 2 | g.237360176A>C | CA2663795139 | COL6A3 | c.5593-17T>G (n.5593-17T>G) c.6211-17T>G (n.6211-17T>G) c.4390-17T>G (n.4390-17T>G) c.5611-17T>G (n.5611-17T>G) c.4990-17T>G (n.4990-17T>G) c.5710-17T>G (n.5710-17T>G) c.6208-17T>G (n.6208-17T>G) c.3805-17T>G (n.3805-17T>G) | ClinVar gnomAD v4 |
| 2 | g.237360178G>A | CA2663795141 | COL6A3 | c.5593-19C>T (n.5593-19C>T) c.6211-19C>T (n.6211-19C>T) c.4390-19C>T (n.4390-19C>T) c.5611-19C>T (n.5611-19C>T) c.4990-19C>T (n.4990-19C>T) c.5710-19C>T (n.5710-19C>T) c.6208-19C>T (n.6208-19C>T) c.3805-19C>T (n.3805-19C>T) | gnomAD v4 |
| 2 | g.237360180A>G | CA2663795142 | COL6A3 | c.5593-21T>C (n.5593-21T>C) c.6211-21T>C (n.6211-21T>C) c.4390-21T>C (n.4390-21T>C) c.5611-21T>C (n.5611-21T>C) c.4990-21T>C (n.4990-21T>C) c.5710-21T>C (n.5710-21T>C) c.6208-21T>C (n.6208-21T>C) c.3805-21T>C (n.3805-21T>C) | gnomAD v4 |
| 2 | g.237360181T>C | CA1337617845 | COL6A3 | c.5593-22A>G (n.5593-22A>G) c.6211-22A>G (n.6211-22A>G) c.4390-22A>G (n.4390-22A>G) c.5611-22A>G (n.5611-22A>G) c.4990-22A>G (n.4990-22A>G) c.5710-22A>G (n.5710-22A>G) c.6208-22A>G (n.6208-22A>G) c.3805-22A>G (n.3805-22A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.237360181T= | CA1337617846 | COL6A3 | c.5593-22A= (n.5593-22A=) c.6211-22A= (n.6211-22A=) c.4390-22A= (n.4390-22A=) c.5611-22A= (n.5611-22A=) c.4990-22A= (n.4990-22A=) c.5710-22A= (n.5710-22A=) c.6208-22A= (n.6208-22A=) c.3805-22A= (n.3805-22A=) | |
| 2 | g.237360183T>C | CA2188400 | COL6A3 | c.5593-24A>G (n.5593-24A>G) c.6211-24A>G (n.6211-24A>G) c.4390-24A>G (n.4390-24A>G) c.5611-24A>G (n.5611-24A>G) c.4990-24A>G (n.4990-24A>G) c.5710-24A>G (n.5710-24A>G) c.6208-24A>G (n.6208-24A>G) c.3805-24A>G (n.3805-24A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.237360183T= | CA1337617847 | COL6A3 | c.5593-24A= (n.5593-24A=) c.6211-24A= (n.6211-24A=) c.4390-24A= (n.4390-24A=) c.5611-24A= (n.5611-24A=) c.4990-24A= (n.4990-24A=) c.5710-24A= (n.5710-24A=) c.6208-24A= (n.6208-24A=) c.3805-24A= (n.3805-24A=) | |
| 2 | g.237360184T>C | CA2577289839 | COL6A3 | c.5593-25A>G (n.5593-25A>G) c.6211-25A>G (n.6211-25A>G) c.4390-25A>G (n.4390-25A>G) c.5611-25A>G (n.5611-25A>G) c.4990-25A>G (n.4990-25A>G) c.5710-25A>G (n.5710-25A>G) c.6208-25A>G (n.6208-25A>G) c.3805-25A>G (n.3805-25A>G) | |
| 2 | g.237360185G= | CA1337617848 | COL6A3 | c.5593-26C= (n.5593-26C=) c.6211-26C= (n.6211-26C=) c.4390-26C= (n.4390-26C=) c.5611-26C= (n.5611-26C=) c.4990-26C= (n.4990-26C=) c.5710-26C= (n.5710-26C=) c.6208-26C= (n.6208-26C=) c.3805-26C= (n.3805-26C=) | |
| 2 | g.237360185G>T | CA540464057 | COL6A3 | c.5593-26C>A (n.5593-26C>A) c.6211-26C>A (n.6211-26C>A) c.4390-26C>A (n.4390-26C>A) c.5611-26C>A (n.5611-26C>A) c.4990-26C>A (n.4990-26C>A) c.5710-26C>A (n.5710-26C>A) c.6208-26C>A (n.6208-26C>A) c.3805-26C>A (n.3805-26C>A) | dbSNP gnomAD v2 |
| 2 | g.237360190C>A | CA766577659 | COL6A3 | c.5593-31G>T (n.5593-31G>T) c.6211-31G>T (n.6211-31G>T) c.4390-31G>T (n.4390-31G>T) c.5611-31G>T (n.5611-31G>T) c.4990-31G>T (n.4990-31G>T) c.5710-31G>T (n.5710-31G>T) c.6208-31G>T (n.6208-31G>T) c.3805-31G>T (n.3805-31G>T) | dbSNP |
| 2 | g.237360190C= | CA1337617849 | COL6A3 | c.5593-31G= (n.5593-31G=) c.6211-31G= (n.6211-31G=) c.4390-31G= (n.4390-31G=) c.5611-31G= (n.5611-31G=) c.4990-31G= (n.4990-31G=) c.5710-31G= (n.5710-31G=) c.6208-31G= (n.6208-31G=) c.3805-31G= (n.3805-31G=) | |
| 2 | g.237360191T>C | CA2577289840 | COL6A3 | c.5593-32A>G (n.5593-32A>G) c.6211-32A>G (n.6211-32A>G) c.4390-32A>G (n.4390-32A>G) c.5611-32A>G (n.5611-32A>G) c.4990-32A>G (n.4990-32A>G) c.5710-32A>G (n.5710-32A>G) c.6208-32A>G (n.6208-32A>G) c.3805-32A>G (n.3805-32A>G) | |
| 2 | g.237360194A= | CA1337617850 | COL6A3 | c.5593-35T= (n.5593-35T=) c.6211-35T= (n.6211-35T=) c.4390-35T= (n.4390-35T=) c.5611-35T= (n.5611-35T=) c.4990-35T= (n.4990-35T=) c.5710-35T= (n.5710-35T=) c.6208-35T= (n.6208-35T=) c.3805-35T= (n.3805-35T=) | |
| 2 | g.237360194A>G | CA540464063 | COL6A3 | c.5593-35T>C (n.5593-35T>C) c.6211-35T>C (n.6211-35T>C) c.4390-35T>C (n.4390-35T>C) c.5611-35T>C (n.5611-35T>C) c.4990-35T>C (n.4990-35T>C) c.5710-35T>C (n.5710-35T>C) c.6208-35T>C (n.6208-35T>C) c.3805-35T>C (n.3805-35T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.237360194A>T | CA540464061 | COL6A3 | c.5593-35T>A (n.5593-35T>A) c.6211-35T>A (n.6211-35T>A) c.4390-35T>A (n.4390-35T>A) c.5611-35T>A (n.5611-35T>A) c.4990-35T>A (n.4990-35T>A) c.5710-35T>A (n.5710-35T>A) c.6208-35T>A (n.6208-35T>A) c.3805-35T>A (n.3805-35T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.237360195G>A | CA2188401 | COL6A3 | c.5593-36C>T (n.5593-36C>T) c.6211-36C>T (n.6211-36C>T) c.4390-36C>T (n.4390-36C>T) c.5611-36C>T (n.5611-36C>T) c.4990-36C>T (n.4990-36C>T) c.5710-36C>T (n.5710-36C>T) c.6208-36C>T (n.6208-36C>T) c.3805-36C>T (n.3805-36C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.237360195G>C | CA2663795147 | COL6A3 | c.5593-36C>G (n.5593-36C>G) c.6211-36C>G (n.6211-36C>G) c.4390-36C>G (n.4390-36C>G) c.5611-36C>G (n.5611-36C>G) c.4990-36C>G (n.4990-36C>G) c.5710-36C>G (n.5710-36C>G) c.6208-36C>G (n.6208-36C>G) c.3805-36C>G (n.3805-36C>G) | gnomAD v4 |
| 2 | g.237360195G= | CA1337617851 | COL6A3 | c.5593-36C= (n.5593-36C=) c.6211-36C= (n.6211-36C=) c.4390-36C= (n.4390-36C=) c.5611-36C= (n.5611-36C=) c.4990-36C= (n.4990-36C=) c.5710-36C= (n.5710-36C=) c.6208-36C= (n.6208-36C=) c.3805-36C= (n.3805-36C=) | |
| 2 | g.237360197C>T | CA2663795150 | COL6A3 | c.5593-38G>A (n.5593-38G>A) c.6211-38G>A (n.6211-38G>A) c.4390-38G>A (n.4390-38G>A) c.5611-38G>A (n.5611-38G>A) c.4990-38G>A (n.4990-38G>A) c.5710-38G>A (n.5710-38G>A) c.6208-38G>A (n.6208-38G>A) c.3805-38G>A (n.3805-38G>A) | gnomAD v4 |
| 2 | g.237360198C>T | CA2663795153 | COL6A3 | c.5593-39G>A (n.5593-39G>A) c.6211-39G>A (n.6211-39G>A) c.4390-39G>A (n.4390-39G>A) c.5611-39G>A (n.5611-39G>A) c.4990-39G>A (n.4990-39G>A) c.5710-39G>A (n.5710-39G>A) c.6208-39G>A (n.6208-39G>A) c.3805-39G>A (n.3805-39G>A) | gnomAD v4 |
| 2 | g.237360199T>C | CA2577289841 | COL6A3 | c.5593-40A>G (n.5593-40A>G) c.6211-40A>G (n.6211-40A>G) c.4390-40A>G (n.4390-40A>G) c.5611-40A>G (n.5611-40A>G) c.4990-40A>G (n.4990-40A>G) c.5710-40A>G (n.5710-40A>G) c.6208-40A>G (n.6208-40A>G) c.3805-40A>G (n.3805-40A>G) | gnomAD v4 |
| 2 | g.237360199_237360202delinsTTCA | CA1337617852 | COL6A3 | c.5593-43_5593-40delinsTGAA (n.5593-43_5593-40delinsTGAA) c.6211-43_6211-40delinsTGAA (n.6211-43_6211-40delinsTGAA) c.4390-43_4390-40delinsTGAA (n.4390-43_4390-40delinsTGAA) c.5611-43_5611-40delinsTGAA (n.5611-43_5611-40delinsTGAA) c.4990-43_4990-40delinsTGAA (n.4990-43_4990-40delinsTGAA) c.5710-43_5710-40delinsTGAA (n.5710-43_5710-40delinsTGAA) c.6208-43_6208-40delinsTGAA (n.6208-43_6208-40delinsTGAA) c.3805-43_3805-40delinsTGAA (n.3805-43_3805-40delinsTGAA) | |
| 2 | g.237360200T>A | CA2663795155 | COL6A3 | c.5593-41A>T (n.5593-41A>T) c.6211-41A>T (n.6211-41A>T) c.4390-41A>T (n.4390-41A>T) c.5611-41A>T (n.5611-41A>T) c.4990-41A>T (n.4990-41A>T) c.5710-41A>T (n.5710-41A>T) c.6208-41A>T (n.6208-41A>T) c.3805-41A>T (n.3805-41A>T) | gnomAD v4 |
| 2 | g.237360200T>G | CA2577289842 | COL6A3 | c.5593-41A>C (n.5593-41A>C) c.6211-41A>C (n.6211-41A>C) c.4390-41A>C (n.4390-41A>C) c.5611-41A>C (n.5611-41A>C) c.4990-41A>C (n.4990-41A>C) c.5710-41A>C (n.5710-41A>C) c.6208-41A>C (n.6208-41A>C) c.3805-41A>C (n.3805-41A>C) | gnomAD v4 |
| 2 | g.237360203_237360205del | CA2188402 | COL6A3 | c.5593-43_5593-41del (n.5593-43_5593-41del) c.6211-43_6211-41del (n.6211-43_6211-41del) c.4390-43_4390-41del (n.4390-43_4390-41del) c.5611-43_5611-41del (n.5611-43_5611-41del) c.4990-43_4990-41del (n.4990-43_4990-41del) c.5710-43_5710-41del (n.5710-43_5710-41del) c.6208-43_6208-41del (n.6208-43_6208-41del) c.3805-43_3805-41del (n.3805-43_3805-41del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360202A= | CA1337617853 | COL6A3 | c.5593-43T= (n.5593-43T=) c.6211-43T= (n.6211-43T=) c.4390-43T= (n.4390-43T=) c.5611-43T= (n.5611-43T=) c.4990-43T= (n.4990-43T=) c.5710-43T= (n.5710-43T=) c.6208-43T= (n.6208-43T=) c.3805-43T= (n.3805-43T=) | |
| 2 | g.237360202A>G | CA540464068 | COL6A3 | c.5593-43T>C (n.5593-43T>C) c.6211-43T>C (n.6211-43T>C) c.4390-43T>C (n.4390-43T>C) c.5611-43T>C (n.5611-43T>C) c.4990-43T>C (n.4990-43T>C) c.5710-43T>C (n.5710-43T>C) c.6208-43T>C (n.6208-43T>C) c.3805-43T>C (n.3805-43T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.237360203T>A | CA2663795157 | COL6A3 | c.5593-44A>T (n.5593-44A>T) c.6211-44A>T (n.6211-44A>T) c.4390-44A>T (n.4390-44A>T) c.5611-44A>T (n.5611-44A>T) c.4990-44A>T (n.4990-44A>T) c.5710-44A>T (n.5710-44A>T) c.6208-44A>T (n.6208-44A>T) c.3805-44A>T (n.3805-44A>T) | gnomAD v4 |
| 2 | g.237360203T>C | CA2663795158 | COL6A3 | c.5593-44A>G (n.5593-44A>G) c.6211-44A>G (n.6211-44A>G) c.4390-44A>G (n.4390-44A>G) c.5611-44A>G (n.5611-44A>G) c.4990-44A>G (n.4990-44A>G) c.5710-44A>G (n.5710-44A>G) c.6208-44A>G (n.6208-44A>G) c.3805-44A>G (n.3805-44A>G) | gnomAD v4 |
| 2 | g.237360204C>T | CA2663795159 | COL6A3 | c.5593-45G>A (n.5593-45G>A) c.6211-45G>A (n.6211-45G>A) c.4390-45G>A (n.4390-45G>A) c.5611-45G>A (n.5611-45G>A) c.4990-45G>A (n.4990-45G>A) c.5710-45G>A (n.5710-45G>A) c.6208-45G>A (n.6208-45G>A) c.3805-45G>A (n.3805-45G>A) | gnomAD v4 |
| 2 | g.237360207C>A | CA2188403 | COL6A3 | c.5593-48G>T (n.5593-48G>T) c.6211-48G>T (n.6211-48G>T) c.4390-48G>T (n.4390-48G>T) c.5611-48G>T (n.5611-48G>T) c.4990-48G>T (n.4990-48G>T) c.5710-48G>T (n.5710-48G>T) c.6208-48G>T (n.6208-48G>T) c.3805-48G>T (n.3805-48G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.237360207C= | CA1337617854 | COL6A3 | c.5593-48G= (n.5593-48G=) c.6211-48G= (n.6211-48G=) c.4390-48G= (n.4390-48G=) c.5611-48G= (n.5611-48G=) c.4990-48G= (n.4990-48G=) c.5710-48G= (n.5710-48G=) c.6208-48G= (n.6208-48G=) c.3805-48G= (n.3805-48G=) | |
| 2 | g.237360207C>G | CA1337617855 | COL6A3 | c.5593-48G>C (n.5593-48G>C) c.6211-48G>C (n.6211-48G>C) c.4390-48G>C (n.4390-48G>C) c.5611-48G>C (n.5611-48G>C) c.4990-48G>C (n.4990-48G>C) c.5710-48G>C (n.5710-48G>C) c.6208-48G>C (n.6208-48G>C) c.3805-48G>C (n.3805-48G>C) | dbSNP |
| 2 | g.237360208C>A | CA2577289843 | COL6A3 | c.5593-49G>T (n.5593-49G>T) c.6211-49G>T (n.6211-49G>T) c.4390-49G>T (n.4390-49G>T) c.5611-49G>T (n.5611-49G>T) c.4990-49G>T (n.4990-49G>T) c.5710-49G>T (n.5710-49G>T) c.6208-49G>T (n.6208-49G>T) c.3805-49G>T (n.3805-49G>T) | gnomAD v4 |
| 2 | g.237360209T>C | CA766577670 | COL6A3 | c.5593-50A>G (n.5593-50A>G) c.6211-50A>G (n.6211-50A>G) c.4390-50A>G (n.4390-50A>G) c.5611-50A>G (n.5611-50A>G) c.4990-50A>G (n.4990-50A>G) c.5710-50A>G (n.5710-50A>G) c.6208-50A>G (n.6208-50A>G) c.3805-50A>G (n.3805-50A>G) | dbSNP gnomAD v4 |
| 2 | g.237360209T= | CA1337617856 | COL6A3 | c.5593-50A= (n.5593-50A=) c.6211-50A= (n.6211-50A=) c.4390-50A= (n.4390-50A=) c.5611-50A= (n.5611-50A=) c.4990-50A= (n.4990-50A=) c.5710-50A= (n.5710-50A=) c.6208-50A= (n.6208-50A=) c.3805-50A= (n.3805-50A=) | |
| 2 | g.237360211T>C | CA766577671 | COL6A3 | c.5593-52A>G (n.5593-52A>G) c.6211-52A>G (n.6211-52A>G) c.4390-52A>G (n.4390-52A>G) c.5611-52A>G (n.5611-52A>G) c.4990-52A>G (n.4990-52A>G) c.5710-52A>G (n.5710-52A>G) c.6208-52A>G (n.6208-52A>G) c.3805-52A>G (n.3805-52A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.237360211T= | CA1337617857 | COL6A3 | c.5593-52A= (n.5593-52A=) c.6211-52A= (n.6211-52A=) c.4390-52A= (n.4390-52A=) c.5611-52A= (n.5611-52A=) c.4990-52A= (n.4990-52A=) c.5710-52A= (n.5710-52A=) c.6208-52A= (n.6208-52A=) c.3805-52A= (n.3805-52A=) | |
| 2 | g.237360214C= | CA1337617858 | COL6A3 | c.5593-55G= (n.5593-55G=) c.6211-55G= (n.6211-55G=) c.4390-55G= (n.4390-55G=) c.5611-55G= (n.5611-55G=) c.4990-55G= (n.4990-55G=) c.5710-55G= (n.5710-55G=) c.6208-55G= (n.6208-55G=) c.3805-55G= (n.3805-55G=) | |
| 2 | g.237360214C>G | CA2577289844 | COL6A3 | c.5593-55G>C (n.5593-55G>C) c.6211-55G>C (n.6211-55G>C) c.4390-55G>C (n.4390-55G>C) c.5611-55G>C (n.5611-55G>C) c.4990-55G>C (n.4990-55G>C) c.5710-55G>C (n.5710-55G>C) c.6208-55G>C (n.6208-55G>C) c.3805-55G>C (n.3805-55G>C) | |
| 2 | g.237360214C>T | CA67854288 | COL6A3 | c.5593-55G>A (n.5593-55G>A) c.6211-55G>A (n.6211-55G>A) c.4390-55G>A (n.4390-55G>A) c.5611-55G>A (n.5611-55G>A) c.4990-55G>A (n.4990-55G>A) c.5710-55G>A (n.5710-55G>A) c.6208-55G>A (n.6208-55G>A) c.3805-55G>A (n.3805-55G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.237360216G>A | CA1043803577 | COL6A3 | c.5593-57C>T (n.5593-57C>T) c.6211-57C>T (n.6211-57C>T) c.4390-57C>T (n.4390-57C>T) c.5611-57C>T (n.5611-57C>T) c.4990-57C>T (n.4990-57C>T) c.5710-57C>T (n.5710-57C>T) c.6208-57C>T (n.6208-57C>T) c.3805-57C>T (n.3805-57C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.237360216G= | CA1337617859 | COL6A3 | c.5593-57C= (n.5593-57C=) c.6211-57C= (n.6211-57C=) c.4390-57C= (n.4390-57C=) c.5611-57C= (n.5611-57C=) c.4990-57C= (n.4990-57C=) c.5710-57C= (n.5710-57C=) c.6208-57C= (n.6208-57C=) c.3805-57C= (n.3805-57C=) | |
| 2 | g.237360216G>T | CA2663795162 | COL6A3 | c.5593-57C>A (n.5593-57C>A) c.6211-57C>A (n.6211-57C>A) c.4390-57C>A (n.4390-57C>A) c.5611-57C>A (n.5611-57C>A) c.4990-57C>A (n.4990-57C>A) c.5710-57C>A (n.5710-57C>A) c.6208-57C>A (n.6208-57C>A) c.3805-57C>A (n.3805-57C>A) | gnomAD v4 |
| 2 | g.237360217C= | CA1337617861 | COL6A3 | c.5593-58G= (n.5593-58G=) c.6211-58G= (n.6211-58G=) c.4390-58G= (n.4390-58G=) c.5611-58G= (n.5611-58G=) c.4990-58G= (n.4990-58G=) c.5710-58G= (n.5710-58G=) c.6208-58G= (n.6208-58G=) c.3805-58G= (n.3805-58G=) | |
| 2 | g.237360217C>G | CA1337617860 | COL6A3 | c.5593-58G>C (n.5593-58G>C) c.6211-58G>C (n.6211-58G>C) c.4390-58G>C (n.4390-58G>C) c.5611-58G>C (n.5611-58G>C) c.4990-58G>C (n.4990-58G>C) c.5710-58G>C (n.5710-58G>C) c.6208-58G>C (n.6208-58G>C) c.3805-58G>C (n.3805-58G>C) | dbSNP |
| 2 | g.237360218C>A | CA1337617863 | COL6A3 | c.5593-59G>T (n.5593-59G>T) c.6211-59G>T (n.6211-59G>T) c.4390-59G>T (n.4390-59G>T) c.5611-59G>T (n.5611-59G>T) c.4990-59G>T (n.4990-59G>T) c.5710-59G>T (n.5710-59G>T) c.6208-59G>T (n.6208-59G>T) c.3805-59G>T (n.3805-59G>T) | dbSNP gnomAD v4 |
| 2 | g.237360218C= | CA1337617862 | COL6A3 | c.5593-59G= (n.5593-59G=) c.6211-59G= (n.6211-59G=) c.4390-59G= (n.4390-59G=) c.5611-59G= (n.5611-59G=) c.4990-59G= (n.4990-59G=) c.5710-59G= (n.5710-59G=) c.6208-59G= (n.6208-59G=) c.3805-59G= (n.3805-59G=) | |
| 2 | g.237360218C>T | CA67854310 | COL6A3 | c.5593-59G>A (n.5593-59G>A) c.6211-59G>A (n.6211-59G>A) c.4390-59G>A (n.4390-59G>A) c.5611-59G>A (n.5611-59G>A) c.4990-59G>A (n.4990-59G>A) c.5710-59G>A (n.5710-59G>A) c.6208-59G>A (n.6208-59G>A) c.3805-59G>A (n.3805-59G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360219G>A | CA67854318 | COL6A3 | c.5593-60C>T (n.5593-60C>T) c.6211-60C>T (n.6211-60C>T) c.4390-60C>T (n.4390-60C>T) c.5611-60C>T (n.5611-60C>T) c.4990-60C>T (n.4990-60C>T) c.5710-60C>T (n.5710-60C>T) c.6208-60C>T (n.6208-60C>T) c.3805-60C>T (n.3805-60C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.237360219G>C | CA2663795163 | COL6A3 | c.5593-60C>G (n.5593-60C>G) c.6211-60C>G (n.6211-60C>G) c.4390-60C>G (n.4390-60C>G) c.5611-60C>G (n.5611-60C>G) c.4990-60C>G (n.4990-60C>G) c.5710-60C>G (n.5710-60C>G) c.6208-60C>G (n.6208-60C>G) c.3805-60C>G (n.3805-60C>G) | gnomAD v4 |
| 2 | g.237360219G= | CA1337617864 | COL6A3 | c.5593-60C= (n.5593-60C=) c.6211-60C= (n.6211-60C=) c.4390-60C= (n.4390-60C=) c.5611-60C= (n.5611-60C=) c.4990-60C= (n.4990-60C=) c.5710-60C= (n.5710-60C=) c.6208-60C= (n.6208-60C=) c.3805-60C= (n.3805-60C=) | |
| 2 | g.237360219G>T | CA2577289846 | COL6A3 | c.5593-60C>A (n.5593-60C>A) c.6211-60C>A (n.6211-60C>A) c.4390-60C>A (n.4390-60C>A) c.5611-60C>A (n.5611-60C>A) c.4990-60C>A (n.4990-60C>A) c.5710-60C>A (n.5710-60C>A) c.6208-60C>A (n.6208-60C>A) c.3805-60C>A (n.3805-60C>A) | |
| 2 | g.237360221del | CA2577289845 | COL6A3 | c.5593-60del (n.5593-60del) c.6211-60del (n.6211-60del) c.4390-60del (n.4390-60del) c.5611-60del (n.5611-60del) c.4990-60del (n.4990-60del) c.5710-60del (n.5710-60del) c.6208-60del (n.6208-60del) c.3805-60del (n.3805-60del) | |
| 2 | g.237360221G>A | CA540464071 | COL6A3 | c.5593-62C>T (n.5593-62C>T) c.6211-62C>T (n.6211-62C>T) c.4390-62C>T (n.4390-62C>T) c.5611-62C>T (n.5611-62C>T) c.4990-62C>T (n.4990-62C>T) c.5710-62C>T (n.5710-62C>T) c.6208-62C>T (n.6208-62C>T) c.3805-62C>T (n.3805-62C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360221G= | CA1337617865 | COL6A3 | c.5593-62C= (n.5593-62C=) c.6211-62C= (n.6211-62C=) c.4390-62C= (n.4390-62C=) c.5611-62C= (n.5611-62C=) c.4990-62C= (n.4990-62C=) c.5710-62C= (n.5710-62C=) c.6208-62C= (n.6208-62C=) c.3805-62C= (n.3805-62C=) | |
| 2 | g.237360221G>T | CA2663795164 | COL6A3 | c.5593-62C>A (n.5593-62C>A) c.6211-62C>A (n.6211-62C>A) c.4390-62C>A (n.4390-62C>A) c.5611-62C>A (n.5611-62C>A) c.4990-62C>A (n.4990-62C>A) c.5710-62C>A (n.5710-62C>A) c.6208-62C>A (n.6208-62C>A) c.3805-62C>A (n.3805-62C>A) | gnomAD v4 |
| 2 | g.237360222C>A | CA2663795165 | COL6A3 | c.5593-63G>T (n.5593-63G>T) c.6211-63G>T (n.6211-63G>T) c.4390-63G>T (n.4390-63G>T) c.5611-63G>T (n.5611-63G>T) c.4990-63G>T (n.4990-63G>T) c.5710-63G>T (n.5710-63G>T) c.6208-63G>T (n.6208-63G>T) c.3805-63G>T (n.3805-63G>T) | gnomAD v4 |
| 2 | g.237360222C= | CA1337617866 | COL6A3 | c.5593-63G= (n.5593-63G=) c.6211-63G= (n.6211-63G=) c.4390-63G= (n.4390-63G=) c.5611-63G= (n.5611-63G=) c.4990-63G= (n.4990-63G=) c.5710-63G= (n.5710-63G=) c.6208-63G= (n.6208-63G=) c.3805-63G= (n.3805-63G=) | |
| 2 | g.237360222C>T | CA67854321 | COL6A3 | c.5593-63G>A (n.5593-63G>A) c.6211-63G>A (n.6211-63G>A) c.4390-63G>A (n.4390-63G>A) c.5611-63G>A (n.5611-63G>A) c.4990-63G>A (n.4990-63G>A) c.5710-63G>A (n.5710-63G>A) c.6208-63G>A (n.6208-63G>A) c.3805-63G>A (n.3805-63G>A) | dbSNP |
| 2 | g.237360226C>T | CA2663795166 | COL6A3 | c.5593-67G>A (n.5593-67G>A) c.6211-67G>A (n.6211-67G>A) c.4390-67G>A (n.4390-67G>A) c.5611-67G>A (n.5611-67G>A) c.4990-67G>A (n.4990-67G>A) c.5710-67G>A (n.5710-67G>A) c.6208-67G>A (n.6208-67G>A) c.3805-67G>A (n.3805-67G>A) | gnomAD v4 |
| 2 | g.237360227A>T | CA2663795167 | COL6A3 | c.5593-68T>A (n.5593-68T>A) c.6211-68T>A (n.6211-68T>A) c.4390-68T>A (n.4390-68T>A) c.5611-68T>A (n.5611-68T>A) c.4990-68T>A (n.4990-68T>A) c.5710-68T>A (n.5710-68T>A) c.6208-68T>A (n.6208-68T>A) c.3805-68T>A (n.3805-68T>A) | gnomAD v4 |
| 2 | g.237360228G>A | CA540464074 | COL6A3 | c.5593-69C>T (n.5593-69C>T) c.6211-69C>T (n.6211-69C>T) c.4390-69C>T (n.4390-69C>T) c.5611-69C>T (n.5611-69C>T) c.4990-69C>T (n.4990-69C>T) c.5710-69C>T (n.5710-69C>T) c.6208-69C>T (n.6208-69C>T) c.3805-69C>T (n.3805-69C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360228G= | CA1337617867 | COL6A3 | c.5593-69C= (n.5593-69C=) c.6211-69C= (n.6211-69C=) c.4390-69C= (n.4390-69C=) c.5611-69C= (n.5611-69C=) c.4990-69C= (n.4990-69C=) c.5710-69C= (n.5710-69C=) c.6208-69C= (n.6208-69C=) c.3805-69C= (n.3805-69C=) | |
| 2 | g.237360228G>T | CA1337617868 | COL6A3 | c.5593-69C>A (n.5593-69C>A) c.6211-69C>A (n.6211-69C>A) c.4390-69C>A (n.4390-69C>A) c.5611-69C>A (n.5611-69C>A) c.4990-69C>A (n.4990-69C>A) c.5710-69C>A (n.5710-69C>A) c.6208-69C>A (n.6208-69C>A) c.3805-69C>A (n.3805-69C>A) | dbSNP gnomAD v4 |
| 2 | g.237360229C>A | CA2663795168 | COL6A3 | c.5593-70G>T (n.5593-70G>T) c.6211-70G>T (n.6211-70G>T) c.4390-70G>T (n.4390-70G>T) c.5611-70G>T (n.5611-70G>T) c.4990-70G>T (n.4990-70G>T) c.5710-70G>T (n.5710-70G>T) c.6208-70G>T (n.6208-70G>T) c.3805-70G>T (n.3805-70G>T) | gnomAD v4 |
| 2 | g.237360229C>T | CA2577289847 | COL6A3 | c.5593-70G>A (n.5593-70G>A) c.6211-70G>A (n.6211-70G>A) c.4390-70G>A (n.4390-70G>A) c.5611-70G>A (n.5611-70G>A) c.4990-70G>A (n.4990-70G>A) c.5710-70G>A (n.5710-70G>A) c.6208-70G>A (n.6208-70G>A) c.3805-70G>A (n.3805-70G>A) | |
| 2 | g.237360230A= | CA1337617869 | COL6A3 | c.5593-71T= (n.5593-71T=) c.6211-71T= (n.6211-71T=) c.4390-71T= (n.4390-71T=) c.5611-71T= (n.5611-71T=) c.4990-71T= (n.4990-71T=) c.5710-71T= (n.5710-71T=) c.6208-71T= (n.6208-71T=) c.3805-71T= (n.3805-71T=) | |
| 2 | g.237360230A>C | CA67854325 | COL6A3 | c.5593-71T>G (n.5593-71T>G) c.6211-71T>G (n.6211-71T>G) c.4390-71T>G (n.4390-71T>G) c.5611-71T>G (n.5611-71T>G) c.4990-71T>G (n.4990-71T>G) c.5710-71T>G (n.5710-71T>G) c.6208-71T>G (n.6208-71T>G) c.3805-71T>G (n.3805-71T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.237360230A>G | CA2577289848 | COL6A3 | c.5593-71T>C (n.5593-71T>C) c.6211-71T>C (n.6211-71T>C) c.4390-71T>C (n.4390-71T>C) c.5611-71T>C (n.5611-71T>C) c.4990-71T>C (n.4990-71T>C) c.5710-71T>C (n.5710-71T>C) c.6208-71T>C (n.6208-71T>C) c.3805-71T>C (n.3805-71T>C) | |
| 2 | g.237360231G>T | CA2663795169 | COL6A3 | c.5593-72C>A (n.5593-72C>A) c.6211-72C>A (n.6211-72C>A) c.4390-72C>A (n.4390-72C>A) c.5611-72C>A (n.5611-72C>A) c.4990-72C>A (n.4990-72C>A) c.5710-72C>A (n.5710-72C>A) c.6208-72C>A (n.6208-72C>A) c.3805-72C>A (n.3805-72C>A) | gnomAD v4 |
| 2 | g.237360232C>A | CA2527988739 | COL6A3 | c.5593-73G>T (n.5593-73G>T) c.6211-73G>T (n.6211-73G>T) c.4390-73G>T (n.4390-73G>T) c.5611-73G>T (n.5611-73G>T) c.4990-73G>T (n.4990-73G>T) c.5710-73G>T (n.5710-73G>T) c.6208-73G>T (n.6208-73G>T) c.3805-73G>T (n.3805-73G>T) | gnomAD v4 |
| 2 | g.237360232C= | CA1337617870 | COL6A3 | c.5593-73G= (n.5593-73G=) c.6211-73G= (n.6211-73G=) c.4390-73G= (n.4390-73G=) c.5611-73G= (n.5611-73G=) c.4990-73G= (n.4990-73G=) c.5710-73G= (n.5710-73G=) c.6208-73G= (n.6208-73G=) c.3805-73G= (n.3805-73G=) | |
| 2 | g.237360232C>T | CA67854327 | COL6A3 | c.5593-73G>A (n.5593-73G>A) c.6211-73G>A (n.6211-73G>A) c.4390-73G>A (n.4390-73G>A) c.5611-73G>A (n.5611-73G>A) c.4990-73G>A (n.4990-73G>A) c.5710-73G>A (n.5710-73G>A) c.6208-73G>A (n.6208-73G>A) c.3805-73G>A (n.3805-73G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360233G>A | CA67854328 | COL6A3 | c.5593-74C>T (n.5593-74C>T) c.6211-74C>T (n.6211-74C>T) c.4390-74C>T (n.4390-74C>T) c.5611-74C>T (n.5611-74C>T) c.4990-74C>T (n.4990-74C>T) c.5710-74C>T (n.5710-74C>T) c.6208-74C>T (n.6208-74C>T) c.3805-74C>T (n.3805-74C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237360233G>C | CA2581795758 | COL6A3 | c.5593-74C>G (n.5593-74C>G) c.6211-74C>G (n.6211-74C>G) c.4390-74C>G (n.4390-74C>G) c.5611-74C>G (n.5611-74C>G) c.4990-74C>G (n.4990-74C>G) c.5710-74C>G (n.5710-74C>G) c.6208-74C>G (n.6208-74C>G) c.3805-74C>G (n.3805-74C>G) | |
| 2 | g.237360233G= | CA1337617871 | COL6A3 | c.5593-74C= (n.5593-74C=) c.6211-74C= (n.6211-74C=) c.4390-74C= (n.4390-74C=) c.5611-74C= (n.5611-74C=) c.4990-74C= (n.4990-74C=) c.5710-74C= (n.5710-74C=) c.6208-74C= (n.6208-74C=) c.3805-74C= (n.3805-74C=) | |
| 2 | g.237360233G>T | CA1337617872 | COL6A3 | c.5593-74C>A (n.5593-74C>A) c.6211-74C>A (n.6211-74C>A) c.4390-74C>A (n.4390-74C>A) c.5611-74C>A (n.5611-74C>A) c.4990-74C>A (n.4990-74C>A) c.5710-74C>A (n.5710-74C>A) c.6208-74C>A (n.6208-74C>A) c.3805-74C>A (n.3805-74C>A) | dbSNP gnomAD v4 |
| 2 | g.237360234T>C | CA1043803586 | COL6A3 | c.5593-75A>G (n.5593-75A>G) c.6211-75A>G (n.6211-75A>G) c.4390-75A>G (n.4390-75A>G) c.5611-75A>G (n.5611-75A>G) c.4990-75A>G (n.4990-75A>G) c.5710-75A>G (n.5710-75A>G) c.6208-75A>G (n.6208-75A>G) c.3805-75A>G (n.3805-75A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.237360234T= | CA1337617873 | COL6A3 | c.5593-75A= (n.5593-75A=) c.6211-75A= (n.6211-75A=) c.4390-75A= (n.4390-75A=) c.5611-75A= (n.5611-75A=) c.4990-75A= (n.4990-75A=) c.5710-75A= (n.5710-75A=) c.6208-75A= (n.6208-75A=) c.3805-75A= (n.3805-75A=) | |
| 2 | g.237360235A>G | CA2701836709 | COL6A3 | c.5593-76T>C (n.5593-76T>C) c.6211-76T>C (n.6211-76T>C) c.4390-76T>C (n.4390-76T>C) c.5611-76T>C (n.5611-76T>C) c.4990-76T>C (n.4990-76T>C) c.5710-76T>C (n.5710-76T>C) c.6208-76T>C (n.6208-76T>C) c.3805-76T>C (n.3805-76T>C) | dbSNP |
| 2 | g.237360237A>G | CA2663795172 | COL6A3 | c.5593-78T>C (n.5593-78T>C) c.6211-78T>C (n.6211-78T>C) c.4390-78T>C (n.4390-78T>C) c.5611-78T>C (n.5611-78T>C) c.4990-78T>C (n.4990-78T>C) c.5710-78T>C (n.5710-78T>C) c.6208-78T>C (n.6208-78T>C) c.3805-78T>C (n.3805-78T>C) | gnomAD v4 |
| 2 | g.237360237_237360238delinsAG | CA1337617874 | COL6A3 | c.5593-79_5593-78delinsCT (n.5593-79_5593-78delinsCT) c.6211-79_6211-78delinsCT (n.6211-79_6211-78delinsCT) c.4390-79_4390-78delinsCT (n.4390-79_4390-78delinsCT) c.5611-79_5611-78delinsCT (n.5611-79_5611-78delinsCT) c.4990-79_4990-78delinsCT (n.4990-79_4990-78delinsCT) c.5710-79_5710-78delinsCT (n.5710-79_5710-78delinsCT) c.6208-79_6208-78delinsCT (n.6208-79_6208-78delinsCT) c.3805-79_3805-78delinsCT (n.3805-79_3805-78delinsCT) | |
| 2 | g.237360238G>A | CA67854336 | COL6A3 | c.5593-79C>T (n.5593-79C>T) c.6211-79C>T (n.6211-79C>T) c.4390-79C>T (n.4390-79C>T) c.5611-79C>T (n.5611-79C>T) c.4990-79C>T (n.4990-79C>T) c.5710-79C>T (n.5710-79C>T) c.6208-79C>T (n.6208-79C>T) c.3805-79C>T (n.3805-79C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.237360238G>C | CA67854344 | COL6A3 | c.5593-79C>G (n.5593-79C>G) c.6211-79C>G (n.6211-79C>G) c.4390-79C>G (n.4390-79C>G) c.5611-79C>G (n.5611-79C>G) c.4990-79C>G (n.4990-79C>G) c.5710-79C>G (n.5710-79C>G) c.6208-79C>G (n.6208-79C>G) c.3805-79C>G (n.3805-79C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.237360238G= | CA1337617876 | COL6A3 | c.5593-79C= (n.5593-79C=) c.6211-79C= (n.6211-79C=) c.4390-79C= (n.4390-79C=) c.5611-79C= (n.5611-79C=) c.4990-79C= (n.4990-79C=) c.5710-79C= (n.5710-79C=) c.6208-79C= (n.6208-79C=) c.3805-79C= (n.3805-79C=) | |
| 2 | g.237360240del | CA1337617875 | COL6A3 | c.5593-79del (n.5593-79del) c.6211-79del (n.6211-79del) c.4390-79del (n.4390-79del) c.5611-79del (n.5611-79del) c.4990-79del (n.4990-79del) c.5710-79del (n.5710-79del) c.6208-79del (n.6208-79del) c.3805-79del (n.3805-79del) | dbSNP gnomAD v4 |