SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow 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 |
|---|---|---|---|---|---|
| 17 | g.80108679_80116948del | CA913184754 | GAA | c.1195-18_2190-20del c.1195-18_*328-20del | |
| 17 | g.80108678_80116951del | CA658795244 | GAA | c.1195-19_2190-17del c.1195-19_*328-17del | ClinVar |
| 17 | g.80111485_80118678del | CA10654926 | GAA | c.1636+460_2672del c.1636+460_*810del | ClinVar |
| 17 | g.80112099_80118805del | CA913184762 | GAA | c.1753_2799del c.1753_*937del | |
| 17 | g.80113791A>G | CA2524589667 | GAA | c.2189+425A>G (n.2189+425A>G) c.*327+425A>G (n.*327+425A>G) c.608+425A>G | dbSNP |
| 17 | g.80113793T>C | CA775519524 | GAA | c.2189+427T>C (n.2189+427T>C) c.*327+427T>C (n.*327+427T>C) c.608+427T>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113793T= | CA2277815764 | GAA | c.2189+427T= (n.2189+427T=) c.*327+427T= (n.*327+427T=) c.608+427T= | |
| 17 | g.80113794G>C | CA775519531 | GAA | c.2189+428G>C (n.2189+428G>C) c.*327+428G>C (n.*327+428G>C) c.608+428G>C | dbSNP |
| 17 | g.80113794G= | CA2277815765 | GAA | c.2189+428G= (n.2189+428G=) c.*327+428G= (n.*327+428G=) c.608+428G= | |
| 17 | g.80113796A= | CA2277815766 | GAA | c.2189+430A= (n.2189+430A=) c.*327+430A= (n.*327+430A=) c.608+430A= | |
| 17 | g.80113796A>G | CA627699843 | GAA | c.2189+430A>G (n.2189+430A>G) c.*327+430A>G (n.*327+430A>G) c.608+430A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113797T>A | CA2277815768 | GAA | c.2189+431T>A (n.2189+431T>A) c.*327+431T>A (n.*327+431T>A) c.608+431T>A | dbSNP |
| 17 | g.80113797T= | CA2277815767 | GAA | c.2189+431T= (n.2189+431T=) c.*327+431T= (n.*327+431T=) c.608+431T= | |
| 17 | g.80113798C>A | CA986709052 | GAA | c.2189+432C>A (n.2189+432C>A) c.*327+432C>A (n.*327+432C>A) c.608+432C>A | gnomAD v3 gnomAD v4 |
| 17 | g.80113805G>A | CA294897848 | GAA | c.2189+439G>A (n.2189+439G>A) c.*327+439G>A (n.*327+439G>A) c.608+439G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113805G>C | CA2277815769 | GAA | c.2189+439G>C (n.2189+439G>C) c.*327+439G>C (n.*327+439G>C) c.608+439G>C | dbSNP |
| 17 | g.80113805G= | CA2277815770 | GAA | c.2189+439G= (n.2189+439G=) c.*327+439G= (n.*327+439G=) c.608+439G= | |
| 17 | g.80113808C>A | CA2277815771 | GAA | c.2189+442C>A (n.2189+442C>A) c.*327+442C>A (n.*327+442C>A) c.608+442C>A | dbSNP |
| 17 | g.80113808C= | CA2277815773 | GAA | c.2189+442C= (n.2189+442C=) c.*327+442C= (n.*327+442C=) c.608+442C= | |
| 17 | g.80113808C>T | CA294897863 | GAA | c.2189+442C>T (n.2189+442C>T) c.*327+442C>T (n.*327+442C>T) c.608+442C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113808_80113810delinsCAA | CA2277815772 | GAA | c.2189+442_2189+444delinsCAA (n.2189+442_2189+444delinsCAA) c.*327+442_*327+444delinsCAA (n.*327+442_*327+444delinsCAA) c.608+442_608+444delinsCAA | |
| 17 | g.80113809_80113810del | CA2277815774 | GAA | c.2189+443_2189+444del (n.2189+443_2189+444del) c.*327+443_*327+444del (n.*327+443_*327+444del) c.608+443_608+444del | dbSNP |
| 17 | g.80113810A>G | CA986709055 | GAA | c.2189+444A>G (n.2189+444A>G) c.*327+444A>G (n.*327+444A>G) c.608+444A>G | gnomAD v3 gnomAD v4 |
| 17 | g.80113812A= | CA2277815775 | GAA | c.2189+446A= (n.2189+446A=) c.*327+446A= (n.*327+446A=) c.608+446A= | |
| 17 | g.80113812A>G | CA775519537 | GAA | c.2189+446A>G (n.2189+446A>G) c.*327+446A>G (n.*327+446A>G) c.608+446A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113824_80113825insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG | CA2810586158 | GAA | c.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG (n.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG) c.*327+458_*327+459insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG (n.*327+458_*327+459insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG) c.608+458_608+459insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG | |
| 17 | g.80113813G>A | CA775519538 | GAA | c.2189+447G>A (n.2189+447G>A) c.*327+447G>A (n.*327+447G>A) c.608+447G>A | dbSNP |
| 17 | g.80113813G= | CA2277815776 | GAA | c.2189+447G= (n.2189+447G=) c.*327+447G= (n.*327+447G=) c.608+447G= | |
| 17 | g.80113814T>A | CA294897870 | GAA | c.2189+448T>A (n.2189+448T>A) c.*327+448T>A (n.*327+448T>A) c.608+448T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113814T= | CA2277815777 | GAA | c.2189+448T= (n.2189+448T=) c.*327+448T= (n.*327+448T=) c.608+448T= | |
| 17 | g.80113816C= | CA2277815778 | GAA | c.2189+450C= (n.2189+450C=) c.*327+450C= (n.*327+450C=) c.608+450C= | |
| 17 | g.80113816C>T | CA775519544 | GAA | c.2189+450C>T (n.2189+450C>T) c.*327+450C>T (n.*327+450C>T) c.608+450C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113817G>A | CA294897872 | GAA | c.2189+451G>A (n.2189+451G>A) c.*327+451G>A (n.*327+451G>A) c.608+451G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113817G>C | CA2733931927 | GAA | c.2189+451G>C (n.2189+451G>C) c.*327+451G>C (n.*327+451G>C) c.608+451G>C | dbSNP |
| 17 | g.80113817G= | CA2277815779 | GAA | c.2189+451G= (n.2189+451G=) c.*327+451G= (n.*327+451G=) c.608+451G= | |
| 17 | g.80113819G>A | CA2277815781 | GAA | c.2189+453G>A (n.2189+453G>A) c.*327+453G>A (n.*327+453G>A) c.608+453G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113819G= | CA2277815780 | GAA | c.2189+453G= (n.2189+453G=) c.*327+453G= (n.*327+453G=) c.608+453G= | |
| 17 | g.80113820G>A | CA986709060 | GAA | c.2189+454G>A (n.2189+454G>A) c.*327+454G>A (n.*327+454G>A) c.608+454G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113820G= | CA2277815782 | GAA | c.2189+454G= (n.2189+454G=) c.*327+454G= (n.*327+454G=) c.608+454G= | |
| 17 | g.80113821C= | CA2277815783 | GAA | c.2189+455C= (n.2189+455C=) c.*327+455C= (n.*327+455C=) c.608+455C= | |
| 17 | g.80113821C>T | CA2277815784 | GAA | c.2189+455C>T (n.2189+455C>T) c.*327+455C>T (n.*327+455C>T) c.608+455C>T | dbSNP |
| 17 | g.80113823A= | CA2277815785 | GAA | c.2189+457A= (n.2189+457A=) c.*327+457A= (n.*327+457A=) c.608+457A= | |
| 17 | g.80113823A>G | CA2837921030 | GAA | c.2189+457A>G (n.2189+457A>G) c.*327+457A>G (n.*327+457A>G) c.608+457A>G | |
| 17 | g.80113824_80113825insGCCGGGCGCGGTGGCTCACG | CA2277815786 | GAA | c.2189+458_2189+459insGCCGGGCGCGGTGGCTCACG (n.2189+458_2189+459insGCCGGGCGCGGTGGCTCACG) c.*327+458_*327+459insGCCGGGCGCGGTGGCTCACG (n.*327+458_*327+459insGCCGGGCGCGGTGGCTCACG) c.608+458_608+459insGCCGGGCGCGGTGGCTCACG | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113824dup | CA627699844 | GAA | c.2189+458dup (n.2189+458dup) c.*327+458dup (n.*327+458dup) c.608+458dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113824_80113871delinsGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTA | CA2277815787 | GAA | c.2189+458_2189+505delinsGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTA (n.2189+458_2189+505delinsGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTA) c.*327+458_*327+505delinsGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTA (n.*327+458_*327+505delinsGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTA) c.608+458_608+505delinsGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTA | |
| 17 | g.80113825C= | CA2277815788 | GAA | c.2189+459C= (n.2189+459C=) c.*327+459C= (n.*327+459C=) c.608+459C= | |
| 17 | g.80113825C>G | CA986709061 | GAA | c.2189+459C>G (n.2189+459C>G) c.*327+459C>G (n.*327+459C>G) c.608+459C>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113825_80113871del | CA627699845 | GAA | c.2189+459_2189+505del (n.2189+459_2189+505del) c.*327+459_*327+505del (n.*327+459_*327+505del) c.608+459_608+505del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113825_80119877del | CA658795277 | GAA | c.*327+459_*1543del c.2189+459_*546del | |
| 17 | g.80113826C= | CA2277815789 | GAA | c.2189+460C= (n.2189+460C=) c.*327+460C= (n.*327+460C=) c.608+460C= | |
| 17 | g.80113826C>T | CA2277815790 | GAA | c.2189+460C>T (n.2189+460C>T) c.*327+460C>T (n.*327+460C>T) c.608+460C>T | dbSNP |
| 17 | g.80113826_80113827insGGGCGCGG | CA627699846 | GAA | c.2189+460_2189+461insGGGCGCGG (n.2189+460_2189+461insGGGCGCGG) c.*327+460_*327+461insGGGCGCGG (n.*327+460_*327+461insGGGCGCGG) c.608+460_608+461insGGGCGCGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113827T>C | CA986709064 | GAA | c.2189+461T>C (n.2189+461T>C) c.*327+461T>C (n.*327+461T>C) c.608+461T>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113827T>G | CA294897881 | GAA | c.2189+461T>G (n.2189+461T>G) c.*327+461T>G (n.*327+461T>G) c.608+461T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113827T= | CA2277815791 | GAA | c.2189+461T= (n.2189+461T=) c.*327+461T= (n.*327+461T=) c.608+461T= | |
| 17 | g.80113828G>A | CA775519571 | GAA | c.2189+462G>A (n.2189+462G>A) c.*327+462G>A (n.*327+462G>A) c.608+462G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113828G= | CA2277815792 | GAA | c.2189+462G= (n.2189+462G=) c.*327+462G= (n.*327+462G=) c.608+462G= | |
| 17 | g.80113828_80113829insTAATCCCAGCACTTTGGGAG | CA2277815793 | GAA | c.2189+462_2189+463insTAATCCCAGCACTTTGGGAG (n.2189+462_2189+463insTAATCCCAGCACTTTGGGAG) c.*327+462_*327+463insTAATCCCAGCACTTTGGGAG (n.*327+462_*327+463insTAATCCCAGCACTTTGGGAG) c.608+462_608+463insTAATCCCAGCACTTTGGGAG | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113829G>A | CA775519575 | GAA | c.2189+463G>A (n.2189+463G>A) c.*327+463G>A (n.*327+463G>A) c.608+463G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113829G= | CA2277815794 | GAA | c.2189+463G= (n.2189+463G=) c.*327+463G= (n.*327+463G=) c.608+463G= | |
| 17 | g.80113830_80113831insTCACGC | CA627699847 | GAA | c.2189+464_2189+465insTCACGC (n.2189+464_2189+465insTCACGC) c.*327+464_*327+465insTCACGC (n.*327+464_*327+465insTCACGC) c.608+464_608+465insTCACGC | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113830C= | CA2277815795 | GAA | c.2189+464C= (n.2189+464C=) c.*327+464C= (n.*327+464C=) c.608+464C= | |
| 17 | g.80113830_80113831insTCACGCCTGTAATC | CA627699848 | GAA | c.2189+464_2189+465insTCACGCCTGTAATC (n.2189+464_2189+465insTCACGCCTGTAATC) c.*327+464_*327+465insTCACGCCTGTAATC (n.*327+464_*327+465insTCACGCCTGTAATC) c.608+464_608+465insTCACGCCTGTAATC | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113830_80113831insTCACGCCTGTAATCC | CA627699849 | GAA | c.2189+464_2189+465insTCACGCCTGTAATCC (n.2189+464_2189+465insTCACGCCTGTAATCC) c.*327+464_*327+465insTCACGCCTGTAATCC (n.*327+464_*327+465insTCACGCCTGTAATCC) c.608+464_608+465insTCACGCCTGTAATCC | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113831_80113832insTCC | CA2547443168 | GAA | c.2189+465_2189+466insTCC (n.2189+465_2189+466insTCC) c.*327+465_*327+466insTCC (n.*327+465_*327+466insTCC) c.608+465_608+466insTCC | |
| 17 | g.80113830_80113831insT | CA627699851 | GAA | c.2189+464_2189+465insT (n.2189+464_2189+465insT) c.*327+464_*327+465insT (n.*327+464_*327+465insT) c.608+464_608+465insT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113831C= | CA2277815796 | GAA | c.2189+465C= (n.2189+465C=) c.*327+465C= (n.*327+465C=) c.608+465C= | |
| 17 | g.80113831C>T | CA627699850 | GAA | c.2189+465C>T (n.2189+465C>T) c.*327+465C>T (n.*327+465C>T) c.608+465C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113831_80113832insGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG | CA2277815798 | GAA | c.2189+465_2189+466insGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG (n.2189+465_2189+466insGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG) c.*327+465_*327+466insGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG (n.*327+465_*327+466insGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG) c.608+465_608+466insGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113832A= | CA2277815797 | GAA | c.2189+466A= (n.2189+466A=) c.*327+466A= (n.*327+466A=) c.608+466A= | |
| 17 | g.80113832A>C | CA627699853 | GAA | c.2189+466A>C (n.2189+466A>C) c.*327+466A>C (n.*327+466A>C) c.608+466A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113832_80113833insCGCCTGTA | CA627699852 | GAA | c.2189+466_2189+467insCGCCTGTA (n.2189+466_2189+467insCGCCTGTA) c.*327+466_*327+467insCGCCTGTA (n.*327+466_*327+467insCGCCTGTA) c.608+466_608+467insCGCCTGTA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113832_80113833insCAGCTTGATTTTTG | CA2499604518 | GAA | c.2189+466_2189+467insCAGCTTGATTTTTG (n.2189+466_2189+467insCAGCTTGATTTTTG) c.*327+466_*327+467insCAGCTTGATTTTTG (n.*327+466_*327+467insCAGCTTGATTTTTG) c.608+466_608+467insCAGCTTGATTTTTG | |
| 17 | g.80113833A= | CA2277815799 | GAA | c.2189+467A= (n.2189+467A=) c.*327+467A= (n.*327+467A=) c.608+467A= | |
| 17 | g.80113833A>C | CA2277815800 | GAA | c.2189+467A>C (n.2189+467A>C) c.*327+467A>C (n.*327+467A>C) c.608+467A>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113833A>G | CA986709079 | GAA | c.2189+467A>G (n.2189+467A>G) c.*327+467A>G (n.*327+467A>G) c.608+467A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113834C= | CA2277815801 | GAA | c.2189+468C= (n.2189+468C=) c.*327+468C= (n.*327+468C=) c.608+468C= | |
| 17 | g.80113834C>G | CA2277815802 | GAA | c.2189+468C>G (n.2189+468C>G) c.*327+468C>G (n.*327+468C>G) c.608+468C>G | dbSNP |
| 17 | g.80113835A= | CA2277815803 | GAA | c.2189+469A= (n.2189+469A=) c.*327+469A= (n.*327+469A=) c.608+469A= | |
| 17 | g.80113835A>G | CA775519594 | GAA | c.2189+469A>G (n.2189+469A>G) c.*327+469A>G (n.*327+469A>G) c.608+469A>G | dbSNP |
| 17 | g.80113836T>C | CA986709081 | GAA | c.2189+470T>C (n.2189+470T>C) c.*327+470T>C (n.*327+470T>C) c.608+470T>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113836T= | CA2277815804 | GAA | c.2189+470T= (n.2189+470T=) c.*327+470T= (n.*327+470T=) c.608+470T= | |
| 17 | g.80113836_80113837insTAACTATTTAATTTATCT | CA2559519078 | GAA | c.2189+470_2189+471insTAACTATTTAATTTATCT (n.2189+470_2189+471insTAACTATTTAATTTATCT) c.*327+470_*327+471insTAACTATTTAATTTATCT (n.*327+470_*327+471insTAACTATTTAATTTATCT) c.608+470_608+471insTAACTATTTAATTTATCT | |
| 17 | g.80113836_80113837insCCCGGCTAAAAC | CA2277815805 | GAA | c.2189+470_2189+471insCCCGGCTAAAAC (n.2189+470_2189+471insCCCGGCTAAAAC) c.*327+470_*327+471insCCCGGCTAAAAC (n.*327+470_*327+471insCCCGGCTAAAAC) c.608+470_608+471insCCCGGCTAAAAC | dbSNP |
| 17 | g.80113837G>A | CA2810586169 | GAA | c.2189+471G>A (n.2189+471G>A) c.*327+471G>A (n.*327+471G>A) c.608+471G>A | |
| 17 | g.80113838G>A | CA2277815806 | GAA | c.2189+472G>A (n.2189+472G>A) c.*327+472G>A (n.*327+472G>A) c.608+472G>A | dbSNP |
| 17 | g.80113838G= | CA2277815807 | GAA | c.2189+472G= (n.2189+472G=) c.*327+472G= (n.*327+472G=) c.608+472G= | |
| 17 | g.80113846dup | CA986709086 | GAA | c.2189+480dup (n.2189+480dup) c.*327+480dup (n.*327+480dup) c.608+480dup | gnomAD v3 gnomAD v4 |
| 17 | g.80113847A= | CA2277815808 | GAA | c.2189+481A= (n.2189+481A=) c.*327+481A= (n.*327+481A=) c.608+481A= | |
| 17 | g.80113847A>G | CA627699854 | GAA | c.2189+481A>G (n.2189+481A>G) c.*327+481A>G (n.*327+481A>G) c.608+481A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113847_80113848insG | CA294897890 | GAA | c.2189+481_2189+482insG (n.2189+481_2189+482insG) c.*327+481_*327+482insG (n.*327+481_*327+482insG) c.608+481_608+482insG | dbSNP |
| 17 | g.80113850T>C | CA775519599 | GAA | c.2189+484T>C (n.2189+484T>C) c.*327+484T>C (n.*327+484T>C) c.608+484T>C | dbSNP |
| 17 | g.80113850T= | CA2277815809 | GAA | c.2189+484T= (n.2189+484T=) c.*327+484T= (n.*327+484T=) c.608+484T= | |
| 17 | g.80113851C= | CA2277815810 | GAA | c.2189+485C= (n.2189+485C=) c.*327+485C= (n.*327+485C=) c.608+485C= | |
| 17 | g.80113851C>T | CA294897896 | GAA | c.2189+485C>T (n.2189+485C>T) c.*327+485C>T (n.*327+485C>T) c.608+485C>T | dbSNP |
| 17 | g.80113852T>C | CA2277815812 | GAA | c.2189+486T>C (n.2189+486T>C) c.*327+486T>C (n.*327+486T>C) c.608+486T>C | dbSNP |
| 17 | g.80113852T= | CA2277815811 | GAA | c.2189+486T= (n.2189+486T=) c.*327+486T= (n.*327+486T=) c.608+486T= | |
| 17 | g.80113853A= | CA2277815813 | GAA | c.2189+487A= (n.2189+487A=) c.*327+487A= (n.*327+487A=) c.608+487A= | |
| 17 | g.80113853A>G | CA775519601 | GAA | c.2189+487A>G (n.2189+487A>G) c.*327+487A>G (n.*327+487A>G) c.608+487A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113855T>G | CA2277815814 | GAA | c.2189+489T>G (n.2189+489T>G) c.*327+489T>G (n.*327+489T>G) c.608+489T>G | dbSNP |
| 17 | g.80113855T= | CA2277815815 | GAA | c.2189+489T= (n.2189+489T=) c.*327+489T= (n.*327+489T=) c.608+489T= | |
| 17 | g.80113861T>C | CA2836919753 | GAA | c.2189+495T>C (n.2189+495T>C) c.*327+495T>C (n.*327+495T>C) c.608+495T>C | |
| 17 | g.80113862A= | CA2277815817 | GAA | c.2189+496A= (n.2189+496A=) c.*327+496A= (n.*327+496A=) c.608+496A= | |
| 17 | g.80113862A>G | CA775519614 | GAA | c.2189+496A>G (n.2189+496A>G) c.*327+496A>G (n.*327+496A>G) c.608+496A>G | dbSNP |
| 17 | g.80113862_80113863delinsAC | CA2277815816 | GAA | c.2189+496_2189+497delinsAC (n.2189+496_2189+497delinsAC) c.*327+496_*327+497delinsAC (n.*327+496_*327+497delinsAC) c.608+496_608+497delinsAC | |
| 17 | g.80113863del | CA775519617 | GAA | c.2189+497del (n.2189+497del) c.*327+497del (n.*327+497del) c.608+497del | dbSNP |
| 17 | g.80113863C>A | CA775519618 | GAA | c.2189+497C>A (n.2189+497C>A) c.*327+497C>A (n.*327+497C>A) c.608+497C>A | dbSNP |
| 17 | g.80113863C= | CA2277815818 | GAA | c.2189+497C= (n.2189+497C=) c.*327+497C= (n.*327+497C=) c.608+497C= | |
| 17 | g.80113866A>G | CA2810586175 | GAA | c.2189+500A>G (n.2189+500A>G) c.*327+500A>G (n.*327+500A>G) c.608+500A>G | |
| 17 | g.80113869T>C | CA2734097696 | GAA | c.2189+503T>C (n.2189+503T>C) c.*327+503T>C (n.*327+503T>C) c.608+503T>C | dbSNP |
| 17 | g.80113870T>C | CA294897898 | GAA | c.2189+504T>C (n.2189+504T>C) c.*327+504T>C (n.*327+504T>C) c.608+504T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113870T= | CA2277815819 | GAA | c.2189+504T= (n.2189+504T=) c.*327+504T= (n.*327+504T=) c.608+504T= | |
| 17 | g.80113873C= | CA2277815820 | GAA | c.2189+507C= (n.2189+507C=) c.*327+507C= (n.*327+507C=) c.608+507C= | |
| 17 | g.80113873C>T | CA294897902 | GAA | c.2189+507C>T (n.2189+507C>T) c.*327+507C>T (n.*327+507C>T) c.608+507C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113874C= | CA2277815821 | GAA | c.2189+508C= (n.2189+508C=) c.*327+508C= (n.*327+508C=) c.608+508C= | |
| 17 | g.80113874C>T | CA775519624 | GAA | c.2189+508C>T (n.2189+508C>T) c.*327+508C>T (n.*327+508C>T) c.608+508C>T | dbSNP |
| 17 | g.80113875G>A | CA294897907 | GAA | c.2189+509G>A (n.2189+509G>A) c.*327+509G>A (n.*327+509G>A) c.608+509G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113875G>C | CA775519626 | GAA | c.2189+509G>C (n.2189+509G>C) c.*327+509G>C (n.*327+509G>C) c.608+509G>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113875G= | CA2277815822 | GAA | c.2189+509G= (n.2189+509G=) c.*327+509G= (n.*327+509G=) c.608+509G= | |
| 17 | g.80113876T>G | CA294897914 | GAA | c.2189+510T>G (n.2189+510T>G) c.*327+510T>G (n.*327+510T>G) c.608+510T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113876T= | CA2277815823 | GAA | c.2189+510T= (n.2189+510T=) c.*327+510T= (n.*327+510T=) c.608+510T= | |
| 17 | g.80113878_80113881delinsCATG | CA2277815824 | GAA | c.2189+512_2189+515delinsCATG (n.2189+512_2189+515delinsCATG) c.*327+512_*327+515delinsCATG (n.*327+512_*327+515delinsCATG) c.608+512_608+515delinsCATG | |
| 17 | g.80113879A= | CA2277815825 | GAA | c.2189+513A= (n.2189+513A=) c.*327+513A= (n.*327+513A=) c.608+513A= | |
| 17 | g.80113879A>G | CA2277815826 | GAA | c.2189+513A>G (n.2189+513A>G) c.*327+513A>G (n.*327+513A>G) c.608+513A>G | dbSNP |
| 17 | g.80113879_80113881del | CA627699855 | GAA | c.2189+513_2189+515del (n.2189+513_2189+515del) c.*327+513_*327+515del (n.*327+513_*327+515del) c.608+513_608+515del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113880T>C | CA775519632 | GAA | c.2189+514T>C (n.2189+514T>C) c.*327+514T>C (n.*327+514T>C) c.608+514T>C | dbSNP |
| 17 | g.80113880T= | CA2277815827 | GAA | c.2189+514T= (n.2189+514T=) c.*327+514T= (n.*327+514T=) c.608+514T= | |
| 17 | g.80113886_80113888del | CA2734097876 | GAA | c.2189+520_2189+522del (n.2189+520_2189+522del) c.*327+520_*327+522del (n.*327+520_*327+522del) c.608+520_608+522del | dbSNP |
| 17 | g.80113881G>A | CA294897917 | GAA | c.2189+515G>A (n.2189+515G>A) c.*327+515G>A (n.*327+515G>A) c.608+515G>A | dbSNP |
| 17 | g.80113881G= | CA2277815828 | GAA | c.2189+515G= (n.2189+515G=) c.*327+515G= (n.*327+515G=) c.608+515G= | |
| 17 | g.80113882G>C | CA986709094 | GAA | c.2189+516G>C (n.2189+516G>C) c.*327+516G>C (n.*327+516G>C) c.608+516G>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113882G= | CA2277815829 | GAA | c.2189+516G= (n.2189+516G=) c.*327+516G= (n.*327+516G=) c.608+516G= | |
| 17 | g.80113883T>C | CA627699856 | GAA | c.2189+517T>C (n.2189+517T>C) c.*327+517T>C (n.*327+517T>C) c.608+517T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113883T= | CA2277815830 | GAA | c.2189+517T= (n.2189+517T=) c.*327+517T= (n.*327+517T=) c.608+517T= | |
| 17 | g.80113884G>C | CA294897918 | GAA | c.2189+518G>C (n.2189+518G>C) c.*327+518G>C (n.*327+518G>C) c.608+518G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113884G= | CA2277815831 | GAA | c.2189+518G= (n.2189+518G=) c.*327+518G= (n.*327+518G=) c.608+518G= | |
| 17 | g.80113885G>A | CA775519637 | GAA | c.2189+519G>A (n.2189+519G>A) c.*327+519G>A (n.*327+519G>A) c.608+519G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113885G= | CA2277815832 | GAA | c.2189+519G= (n.2189+519G=) c.*327+519G= (n.*327+519G=) c.608+519G= | |
| 17 | g.80113887G>A | CA775519638 | GAA | c.2189+521G>A (n.2189+521G>A) c.*327+521G>A (n.*327+521G>A) c.608+521G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113887G= | CA2277815833 | GAA | c.2189+521G= (n.2189+521G=) c.*327+521G= (n.*327+521G=) c.608+521G= | |
| 17 | g.80113888G= | CA2277815834 | GAA | c.2189+522G= (n.2189+522G=) c.*327+522G= (n.*327+522G=) c.608+522G= | |
| 17 | g.80113888G>T | CA2277815835 | GAA | c.2189+522G>T (n.2189+522G>T) c.*327+522G>T (n.*327+522G>T) c.608+522G>T | dbSNP |
| 17 | g.80113888_80113889insCTC | CA627699858 | GAA | c.2189+522_2189+523insCTC (n.2189+522_2189+523insCTC) c.*327+522_*327+523insCTC (n.*327+522_*327+523insCTC) c.608+522_608+523insCTC | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113889G>A | CA627699857 | GAA | c.2189+523G>A (n.2189+523G>A) c.*327+523G>A (n.*327+523G>A) c.608+523G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113889G= | CA2277815836 | GAA | c.2189+523G= (n.2189+523G=) c.*327+523G= (n.*327+523G=) c.608+523G= | |
| 17 | g.80113890C= | CA2277815837 | GAA | c.2189+524C= (n.2189+524C=) c.*327+524C= (n.*327+524C=) c.608+524C= | |
| 17 | g.80113890C>G | CA775519641 | GAA | c.2189+524C>G (n.2189+524C>G) c.*327+524C>G (n.*327+524C>G) c.608+524C>G | dbSNP |
| 17 | g.80113890C>T | CA294897925 | GAA | c.2189+524C>T (n.2189+524C>T) c.*327+524C>T (n.*327+524C>T) c.608+524C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113891G>A | CA294897926 | GAA | c.2189+525G>A (n.2189+525G>A) c.*327+525G>A (n.*327+525G>A) c.608+525G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.80113891G= | CA2277815838 | GAA | c.2189+525G= (n.2189+525G=) c.*327+525G= (n.*327+525G=) c.608+525G= |