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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.134805163A>C | CA467656887 | COL5A1 | c.3207A>C (p.Gly1069=) n.3609A>C n.3605A>C | |
| 9 | g.134805163A>G | CA467656888 | COL5A1 | c.3207A>G (p.Gly1069=) n.3609A>G n.3605A>G | |
| 9 | g.134805163A>T | CA467656889 | COL5A1 | c.3207A>T (p.Gly1069=) n.3609A>T n.3605A>T | |
| 9 | g.134805164G>A | CA5319804 | COL5A1 | c.3208G>A (p.Ala1070Thr) n.3610G>A n.3606G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134805164G>C | CA375450777 | COL5A1 | c.3208G>C (p.Ala1070Pro) n.3610G>C n.3606G>C | |
| 9 | g.134805164G= | CA1883381294 | COL5A1 | c.3208G= (p.Ala1070=) n.3610G= n.3606G= | |
| 9 | g.134805164G>T | CA375450783 | COL5A1 | c.3208G>T (p.Ala1070Ser) n.3610G>T n.3606G>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.134805165C>A | CA375450785 | COL5A1 | c.3209C>A (p.Ala1070Asp) n.3611C>A n.3607C>A | |
| 9 | g.134805165C>G | CA375450788 | COL5A1 | c.3209C>G (p.Ala1070Gly) n.3611C>G n.3607C>G | |
| 9 | g.134805165C>T | CA375450791 | COL5A1 | c.3209C>T (p.Ala1070Val) n.3611C>T n.3607C>T | ClinVar dbSNP |
| 9 | g.134805166T>A | CA467656891 | COL5A1 | c.3210T>A (p.Ala1070=) n.3612T>A n.3608T>A | |
| 9 | g.134805166T>C | CA5319805 | COL5A1 | c.3210T>C (p.Ala1070=) n.3612T>C n.3608T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.134805166T>G | CA467656892 | COL5A1 | c.3210T>G (p.Ala1070=) n.3612T>G n.3608T>G | |
| 9 | g.134805166T= | CA1883381295 | COL5A1 | c.3210T= (p.Ala1070=) n.3612T= n.3608T= | |
| 9 | g.134805167C>A | CA375450797 | COL5A1 | c.3211C>A (p.Leu1071Ile) n.3613C>A n.3609C>A | |
| 9 | g.134805167C= | CA1883381296 | COL5A1 | c.3211C= (p.Leu1071=) n.3613C= n.3609C= | |
| 9 | g.134805167C>G | CA375450800 | COL5A1 | c.3211C>G (p.Leu1071Val) n.3613C>G n.3609C>G | |
| 9 | g.134805167C>T | CA5319806 | COL5A1 | c.3211C>T (p.Leu1071Phe) n.3613C>T n.3609C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.134805168T>A | CA375450803 | COL5A1 | c.3212T>A (p.Leu1071His) n.3614T>A n.3610T>A | |
| 9 | g.134805168T>C | CA375450805 | COL5A1 | c.3212T>C (p.Leu1071Pro) n.3614T>C n.3610T>C | |
| 9 | g.134805168T>G | CA375450806 | COL5A1 | c.3212T>G (p.Leu1071Arg) n.3614T>G n.3610T>G | |
| 9 | g.134805169T>A | CA467656894 | COL5A1 | c.3213T>A (p.Leu1071=) n.3615T>A n.3611T>A | |
| 9 | g.134805169T>C | CA467656895 | COL5A1 | c.3213T>C (p.Leu1071=) n.3615T>C n.3611T>C | |
| 9 | g.134805169T>G | CA467656896 | COL5A1 | c.3213T>G (p.Leu1071=) n.3615T>G n.3611T>G | |
| 9 | g.134805170G>A | CA375450819 | COL5A1 | c.3214G>A (p.Gly1072Arg) n.3616G>A n.3612G>A | |
| 9 | g.134805170G>C | CA375450818 | COL5A1 | c.3214G>C (p.Gly1072Arg) n.3616G>C n.3612G>C | |
| 9 | g.134805170G>T | CA375450817 | COL5A1 | c.3214G>T (p.Gly1072Ter) n.3616G>T n.3612G>T | |
| 9 | g.134805171G>A | CA375450820 | COL5A1 | c.3215G>A (p.Gly1072Glu) n.3617G>A n.3613G>A | |
| 9 | g.134805171G>C | CA375450822 | COL5A1 | c.3215G>C (p.Gly1072Ala) n.3617G>C n.3613G>C | |
| 9 | g.134805171G>T | CA375450821 | COL5A1 | c.3215G>T (p.Gly1072Val) n.3617G>T n.3613G>T | |
| 9 | g.134805172A>C | CA467656899 | COL5A1 | c.3216A>C (p.Gly1072=) n.3618A>C n.3614A>C | |
| 9 | g.134805172A>G | CA467656900 | COL5A1 | c.3216A>G (p.Gly1072=) n.3618A>G n.3614A>G | |
| 9 | g.134805172A>T | CA467656901 | COL5A1 | c.3216A>T (p.Gly1072=) n.3618A>T n.3614A>T | |
| 9 | g.134805173C>A | CA375450825 | COL5A1 | c.3217C>A (p.Leu1073Met) n.3619C>A n.3615C>A | |
| 9 | g.134805173C>G | CA375450830 | COL5A1 | c.3217C>G (p.Leu1073Val) n.3619C>G n.3615C>G | |
| 9 | g.134805173C>T | CA467656903 | COL5A1 | c.3217C>T (p.Leu1073=) n.3619C>T n.3615C>T | |
| 9 | g.134805173_134805174delinsA | CA2695211549 | COL5A1 | c.3217_3218delinsA (p.Leu1073ArgfsTer?) n.3619_3620delinsA n.3615_3616delinsA | |
| 9 | g.134805174T>A | CA375450833 | COL5A1 | c.3218T>A (p.Leu1073Gln) n.3620T>A n.3616T>A | |
| 9 | g.134805174T>C | CA375450834 | COL5A1 | c.3218T>C (p.Leu1073Pro) n.3620T>C n.3616T>C | |
| 9 | g.134805174T>G | CA375450835 | COL5A1 | c.3218T>G (p.Leu1073Arg) n.3620T>G n.3616T>G | dbSNP gnomAD v4 |
| 9 | g.134805174T= | CA1883381297 | COL5A1 | c.3218T= (p.Leu1073=) n.3620T= n.3616T= | |
| 9 | g.134805175G>A | CA467656906 | COL5A1 | c.3219G>A (p.Leu1073=) n.3621G>A n.3617G>A | |
| 9 | g.134805175G>C | CA467656904 | COL5A1 | c.3219G>C (p.Leu1073=) n.3621G>C n.3617G>C | |
| 9 | g.134805175G>T | CA467656905 | COL5A1 | c.3219G>T (p.Leu1073=) n.3621G>T n.3617G>T | |
| 9 | g.134805176A>C | CA375450836 | COL5A1 | c.3220A>C (p.Lys1074Gln) n.3622A>C n.3618A>C | |
| 9 | g.134805176A>G | CA375450838 | COL5A1 | c.3220A>G (p.Lys1074Glu) n.3622A>G n.3618A>G | |
| 9 | g.134805176A>T | CA375450841 | COL5A1 | c.3220A>T (p.Lys1074Ter) n.3622A>T n.3618A>T | |
| 9 | g.134805177A= | CA1883381298 | COL5A1 | c.3221A= (p.Lys1074=) n.3623A= n.3619A= | |
| 9 | g.134805177A>C | CA375450849 | COL5A1 | c.3221A>C (p.Lys1074Thr) n.3623A>C n.3619A>C | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.134805177A>G | CA375450851 | COL5A1 | c.3221A>G (p.Lys1074Arg) n.3623A>G n.3619A>G |