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.80113825_80119877del | CA658795277 | GAA | c.*327+459_*1543del c.2189+459_*546del | |
| 17 | g.80113918_80113925delinsTGAGGCCA | CA2277815849 | GAA | c.2189+552_2189+559delinsTGAGGCCA (n.2189+552_2189+559delinsTGAGGCCA) c.*327+552_*327+559delinsTGAGGCCA (n.*327+552_*327+559delinsTGAGGCCA) c.608+552_608+559delinsTGAGGCCA | |
| 17 | g.80113922_80113928del | CA2277815850 | GAA | c.2189+556_2189+562del (n.2189+556_2189+562del) c.*327+556_*327+562del (n.*327+556_*327+562del) c.608+556_608+562del | dbSNP |
| 17 | g.80113925A= | CA2277815854 | GAA | c.2189+559A= (n.2189+559A=) c.*327+559A= (n.*327+559A=) c.608+559A= | |
| 17 | g.80113925A>G | CA986709108 | GAA | c.2189+559A>G (n.2189+559A>G) c.*327+559A>G (n.*327+559A>G) c.608+559A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113927A= | CA2277815855 | GAA | c.2189+561A= (n.2189+561A=) c.*327+561A= (n.*327+561A=) c.608+561A= | |
| 17 | g.80113927A>C | CA986709109 | GAA | c.2189+561A>C (n.2189+561A>C) c.*327+561A>C (n.*327+561A>C) c.608+561A>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113928G>C | CA294897957 | GAA | c.2189+562G>C (n.2189+562G>C) c.*327+562G>C (n.*327+562G>C) c.608+562G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113928G= | CA2277815856 | GAA | c.2189+562G= (n.2189+562G=) c.*327+562G= (n.*327+562G=) c.608+562G= | |
| 17 | g.80113928G>T | CA2277815857 | GAA | c.2189+562G>T (n.2189+562G>T) c.*327+562G>T (n.*327+562G>T) c.608+562G>T | dbSNP |
| 17 | g.80113929A= | CA2277815859 | GAA | c.2189+563A= (n.2189+563A=) c.*327+563A= (n.*327+563A=) c.608+563A= | |
| 17 | g.80113929A>G | CA2277815858 | GAA | c.2189+563A>G (n.2189+563A>G) c.*327+563A>G (n.*327+563A>G) c.608+563A>G | dbSNP |
| 17 | g.80113929A>T | CA294897961 | GAA | c.2189+563A>T (n.2189+563A>T) c.*327+563A>T (n.*327+563A>T) c.608+563A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113930A= | CA2277815860 | GAA | c.2189+564A= (n.2189+564A=) c.*327+564A= (n.*327+564A=) c.608+564A= | |
| 17 | g.80113930A>G | CA986709112 | GAA | c.2189+564A>G (n.2189+564A>G) c.*327+564A>G (n.*327+564A>G) c.608+564A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113931_80113932delinsTC | CA2277815861 | GAA | c.2189+565_2189+566delinsTC (n.2189+565_2189+566delinsTC) c.*327+565_*327+566delinsTC (n.*327+565_*327+566delinsTC) c.608+565_608+566delinsTC | |
| 17 | g.80113934del | CA2277815862 | GAA | c.2189+568del (n.2189+568del) c.*327+568del (n.*327+568del) c.608+568del | dbSNP |
| 17 | g.80113933C= | CA2277815863 | GAA | c.2189+567C= (n.2189+567C=) c.*327+567C= (n.*327+567C=) c.608+567C= | |
| 17 | g.80113933C>G | CA294897976 | GAA | c.2189+567C>G (n.2189+567C>G) c.*327+567C>G (n.*327+567C>G) c.608+567C>G | dbSNP |
| 17 | g.80113933C>T | CA2277815864 | GAA | c.2189+567C>T (n.2189+567C>T) c.*327+567C>T (n.*327+567C>T) c.608+567C>T | dbSNP |
| 17 | g.80113937G= | CA2277815865 | GAA | c.2189+571G= (n.2189+571G=) c.*327+571G= (n.*327+571G=) c.608+571G= | |
| 17 | g.80113937G>T | CA775519679 | GAA | c.2189+571G>T (n.2189+571G>T) c.*327+571G>T (n.*327+571G>T) c.608+571G>T | dbSNP |
| 17 | g.80113939A= | CA2277815866 | GAA | c.2189+573A= (n.2189+573A=) c.*327+573A= (n.*327+573A=) c.608+573A= | |
| 17 | g.80113939A>G | CA775519690 | GAA | c.2189+573A>G (n.2189+573A>G) c.*327+573A>G (n.*327+573A>G) c.608+573A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113940C= | CA2277815867 | GAA | c.2189+574C= (n.2189+574C=) c.*327+574C= (n.*327+574C=) c.608+574C= | |
| 17 | g.80113940C>G | CA775519698 | GAA | c.2189+574C>G (n.2189+574C>G) c.*327+574C>G (n.*327+574C>G) c.608+574C>G | dbSNP |
| 17 | g.80113940C>T | CA775519697 | GAA | c.2189+574C>T (n.2189+574C>T) c.*327+574C>T (n.*327+574C>T) c.608+574C>T | dbSNP |
| 17 | g.80113943G>C | CA2508587453 | GAA | c.2189+577G>C (n.2189+577G>C) c.*327+577G>C (n.*327+577G>C) c.608+577G>C | |
| 17 | g.80113943G>T | CA2810586203 | GAA | c.2189+577G>T (n.2189+577G>T) c.*327+577G>T (n.*327+577G>T) c.608+577G>T | |
| 17 | g.80113943_80113946delinsGGGA | CA2277815868 | GAA | c.2189+577_2189+580delinsGGGA (n.2189+577_2189+580delinsGGGA) c.*327+577_*327+580delinsGGGA (n.*327+577_*327+580delinsGGGA) c.608+577_608+580delinsGGGA | |
| 17 | g.80113944G>A | CA775519700 | GAA | c.2189+578G>A (n.2189+578G>A) c.*327+578G>A (n.*327+578G>A) c.608+578G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113944G= | CA2277815869 | GAA | c.2189+578G= (n.2189+578G=) c.*327+578G= (n.*327+578G=) c.608+578G= | |
| 17 | g.80113951_80113953del | CA986709115 | GAA | c.2189+585_2189+587del (n.2189+585_2189+587del) c.*327+585_*327+587del (n.*327+585_*327+587del) c.608+585_608+587del | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113947G>A | CA627699865 | GAA | c.2189+581G>A (n.2189+581G>A) c.*327+581G>A (n.*327+581G>A) c.608+581G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113947G= | CA2277815870 | GAA | c.2189+581G= (n.2189+581G=) c.*327+581G= (n.*327+581G=) c.608+581G= | |
| 17 | g.80113949A>C | CA2540473254 | GAA | c.2189+583A>C (n.2189+583A>C) c.*327+583A>C (n.*327+583A>C) c.608+583A>C | |
| 17 | g.80113950G>A | CA2277815873 | GAA | c.2189+584G>A (n.2189+584G>A) c.*327+584G>A (n.*327+584G>A) c.608+584G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113950G= | CA2277815872 | GAA | c.2189+584G= (n.2189+584G=) c.*327+584G= (n.*327+584G=) c.608+584G= | |
| 17 | g.80113950_80113952delinsGGA | CA2277815871 | GAA | c.2189+584_2189+586delinsGGA (n.2189+584_2189+586delinsGGA) c.*327+584_*327+586delinsGGA (n.*327+584_*327+586delinsGGA) c.608+584_608+586delinsGGA | |
| 17 | g.80113951G>A | CA2277815874 | GAA | c.2189+585G>A (n.2189+585G>A) c.*327+585G>A (n.*327+585G>A) c.608+585G>A | dbSNP |
| 17 | g.80113951G= | CA2277815875 | GAA | c.2189+585G= (n.2189+585G=) c.*327+585G= (n.*327+585G=) c.608+585G= | |
| 17 | g.80113953_80113954del | CA775519704 | GAA | c.2189+587_2189+588del (n.2189+587_2189+588del) c.*327+587_*327+588del (n.*327+587_*327+588del) c.608+587_608+588del | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113953G>A | CA775519713 | GAA | c.2189+587G>A (n.2189+587G>A) c.*327+587G>A (n.*327+587G>A) c.608+587G>A | dbSNP |
| 17 | g.80113953G= | CA2277815876 | GAA | c.2189+587G= (n.2189+587G=) c.*327+587G= (n.*327+587G=) c.608+587G= | |
| 17 | g.80113954A>C | CA2538352524 | GAA | c.2189+588A>C (n.2189+588A>C) c.*327+588A>C (n.*327+588A>C) c.608+588A>C | |
| 17 | g.80113955T>A | CA294897981 | GAA | c.2189+589T>A (n.2189+589T>A) c.*327+589T>A (n.*327+589T>A) c.608+589T>A | dbSNP |
| 17 | g.80113955T= | CA2277815877 | GAA | c.2189+589T= (n.2189+589T=) c.*327+589T= (n.*327+589T=) c.608+589T= | |
| 17 | g.80113956T>G | CA986709118 | GAA | c.2189+590T>G (n.2189+590T>G) c.*327+590T>G (n.*327+590T>G) c.608+590T>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113956T= | CA2277815878 | GAA | c.2189+590T= (n.2189+590T=) c.*327+590T= (n.*327+590T=) c.608+590T= | |
| 17 | g.80113957G>A | CA775519717 | GAA | c.2189+591G>A (n.2189+591G>A) c.*327+591G>A (n.*327+591G>A) c.608+591G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113957G= | CA2277815879 | GAA | c.2189+591G= (n.2189+591G=) c.*327+591G= (n.*327+591G=) c.608+591G= | |
| 17 | g.80113958C= | CA2277815880 | GAA | c.2189+592C= (n.2189+592C=) c.*327+592C= (n.*327+592C=) c.608+592C= | |
| 17 | g.80113958C>T | CA986709121 | GAA | c.2189+592C>T (n.2189+592C>T) c.*327+592C>T (n.*327+592C>T) c.608+592C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113962G>A | CA2277815882 | GAA | c.2189+596G>A (n.2189+596G>A) c.*327+596G>A (n.*327+596G>A) c.608+596G>A | dbSNP |
| 17 | g.80113962G= | CA2277815881 | GAA | c.2189+596G= (n.2189+596G=) c.*327+596G= (n.*327+596G=) c.608+596G= | |
| 17 | g.80113963A= | CA2277815884 | GAA | c.2189+597A= (n.2189+597A=) c.*327+597A= (n.*327+597A=) c.608+597A= | |
| 17 | g.80113963A>C | CA2277815883 | GAA | c.2189+597A>C (n.2189+597A>C) c.*327+597A>C (n.*327+597A>C) c.608+597A>C | dbSNP |
| 17 | g.80113963A>G | CA2810586206 | GAA | c.2189+597A>G (n.2189+597A>G) c.*327+597A>G (n.*327+597A>G) c.608+597A>G | |
| 17 | g.80113964G>A | CA2277815886 | GAA | c.2189+598G>A (n.2189+598G>A) c.*327+598G>A (n.*327+598G>A) c.608+598G>A | dbSNP |
| 17 | g.80113964G= | CA2277815885 | GAA | c.2189+598G= (n.2189+598G=) c.*327+598G= (n.*327+598G=) c.608+598G= | |
| 17 | g.80113965C>A | CA2532068235 | GAA | c.2189+599C>A (n.2189+599C>A) c.*327+599C>A (n.*327+599C>A) c.608+599C>A | |
| 17 | g.80113966C= | CA2277815887 | GAA | c.2189+600C= (n.2189+600C=) c.*327+600C= (n.*327+600C=) c.608+600C= | |
| 17 | g.80113966C>T | CA775519723 | GAA | c.2189+600C>T (n.2189+600C>T) c.*327+600C>T (n.*327+600C>T) c.608+600C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113967G>A | CA775519724 | GAA | c.2189+601G>A (n.2189+601G>A) c.*327+601G>A (n.*327+601G>A) c.608+601G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113967G= | CA2277815888 | GAA | c.2189+601G= (n.2189+601G=) c.*327+601G= (n.*327+601G=) c.608+601G= | |
| 17 | g.80113970A= | CA2277815889 | GAA | c.2189+604A= (n.2189+604A=) c.*327+604A= (n.*327+604A=) c.608+604A= | |
| 17 | g.80113970A>G | CA775519727 | GAA | c.2189+604A>G (n.2189+604A>G) c.*327+604A>G (n.*327+604A>G) c.608+604A>G | dbSNP |
| 17 | g.80113972C= | CA2277815890 | GAA | c.2189+606C= (n.2189+606C=) c.*327+606C= (n.*327+606C=) c.608+606C= | |
| 17 | g.80113972C>G | CA986709124 | GAA | c.2189+606C>G (n.2189+606C>G) c.*327+606C>G (n.*327+606C>G) c.608+606C>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113972C>T | CA775519729 | GAA | c.2189+606C>T (n.2189+606C>T) c.*327+606C>T (n.*327+606C>T) c.608+606C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113973G>A | CA14427102 | GAA | c.2189+607G>A (n.2189+607G>A) c.*327+607G>A (n.*327+607G>A) c.608+607G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113973G>C | CA294897998 | GAA | c.2189+607G>C (n.2189+607G>C) c.*327+607G>C (n.*327+607G>C) c.608+607G>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113973G= | CA2277815891 | GAA | c.2189+607G= (n.2189+607G=) c.*327+607G= (n.*327+607G=) c.608+607G= | |
| 17 | g.80113974C>A | CA2733930570 | GAA | c.2189+608C>A (n.2189+608C>A) c.*327+608C>A (n.*327+608C>A) c.608+608C>A | dbSNP |
| 17 | g.80113974C= | CA2277815892 | GAA | c.2189+608C= (n.2189+608C=) c.*327+608C= (n.*327+608C=) c.608+608C= | |
| 17 | g.80113974C>T | CA294897999 | GAA | c.2189+608C>T (n.2189+608C>T) c.*327+608C>T (n.*327+608C>T) c.608+608C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113975G>A | CA294898002 | GAA | c.2189+609G>A (n.2189+609G>A) c.*327+609G>A (n.*327+609G>A) c.608+609G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113975G= | CA2277815893 | GAA | c.2189+609G= (n.2189+609G=) c.*327+609G= (n.*327+609G=) c.608+609G= | |
| 17 | g.80113976C>T | CA2810586210 | GAA | c.2189+610C>T (n.2189+610C>T) c.*327+610C>T (n.*327+610C>T) c.608+610C>T | |
| 17 | g.80113977C>A | CA2741558926 | GAA | c.2189+611C>A (n.2189+611C>A) c.*327+611C>A (n.*327+611C>A) c.608+611C>A | |
| 17 | g.80113977C= | CA2277815894 | GAA | c.2189+611C= (n.2189+611C=) c.*327+611C= (n.*327+611C=) c.608+611C= | |
| 17 | g.80113977C>T | CA2277815895 | GAA | c.2189+611C>T (n.2189+611C>T) c.*327+611C>T (n.*327+611C>T) c.608+611C>T | dbSNP |
| 17 | g.80113978A= | CA2277815896 | GAA | c.2189+612A= (n.2189+612A=) c.*327+612A= (n.*327+612A=) c.608+612A= | |
| 17 | g.80113978A>G | CA294898009 | GAA | c.2189+612A>G (n.2189+612A>G) c.*327+612A>G (n.*327+612A>G) c.608+612A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113979C= | CA2277815897 | GAA | c.2189+613C= (n.2189+613C=) c.*327+613C= (n.*327+613C=) c.608+613C= | |
| 17 | g.80113979C>T | CA2277815898 | GAA | c.2189+613C>T (n.2189+613C>T) c.*327+613C>T (n.*327+613C>T) c.608+613C>T | dbSNP |
| 17 | g.80113980T>C | CA294898014 | GAA | c.2189+614T>C (n.2189+614T>C) c.*327+614T>C (n.*327+614T>C) c.608+614T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113980T= | CA2277815899 | GAA | c.2189+614T= (n.2189+614T=) c.*327+614T= (n.*327+614T=) c.608+614T= | |
| 17 | g.80113981G>A | CA294898016 | GAA | c.2189+615G>A (n.2189+615G>A) c.*327+615G>A (n.*327+615G>A) c.608+615G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113981G= | CA2277815900 | GAA | c.2189+615G= (n.2189+615G=) c.*327+615G= (n.*327+615G=) c.608+615G= | |
| 17 | g.80113981G>T | CA2277815901 | GAA | c.2189+615G>T (n.2189+615G>T) c.*327+615G>T (n.*327+615G>T) c.608+615G>T | dbSNP |
| 17 | g.80113982T>A | CA2741558927 | GAA | c.2189+616T>A (n.2189+616T>A) c.*327+616T>A (n.*327+616T>A) c.608+616T>A | |
| 17 | g.80113982T>C | CA294898017 | GAA | c.2189+616T>C (n.2189+616T>C) c.*327+616T>C (n.*327+616T>C) c.608+616T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113982T>G | CA2277815902 | GAA | c.2189+616T>G (n.2189+616T>G) c.*327+616T>G (n.*327+616T>G) c.608+616T>G | dbSNP |
| 17 | g.80113982T= | CA2277815903 | GAA | c.2189+616T= (n.2189+616T=) c.*327+616T= (n.*327+616T=) c.608+616T= | |
| 17 | g.80113983A= | CA2277815904 | GAA | c.2189+617A= (n.2189+617A=) c.*327+617A= (n.*327+617A=) c.608+617A= | |
| 17 | g.80113983A>C | CA2810586214 | GAA | c.2189+617A>C (n.2189+617A>C) c.*327+617A>C (n.*327+617A>C) c.608+617A>C | |
| 17 | g.80113983A>G | CA294898018 | GAA | c.2189+617A>G (n.2189+617A>G) c.*327+617A>G (n.*327+617A>G) c.608+617A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113983A>T | CA986709136 | GAA | c.2189+617A>T (n.2189+617A>T) c.*327+617A>T (n.*327+617A>T) c.608+617A>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113985T>C | CA986709137 | GAA | c.2189+619T>C (n.2189+619T>C) c.*327+619T>C (n.*327+619T>C) c.608+619T>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113985T= | CA2277815905 | GAA | c.2189+619T= (n.2189+619T=) c.*327+619T= (n.*327+619T=) c.608+619T= | |
| 17 | g.80113986C>A | CA627699866 | GAA | c.2189+620C>A (n.2189+620C>A) c.*327+620C>A (n.*327+620C>A) c.608+620C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113986C= | CA2277815906 | GAA | c.2189+620C= (n.2189+620C=) c.*327+620C= (n.*327+620C=) c.608+620C= | |
| 17 | g.80113986C>G | CA294898019 | GAA | c.2189+620C>G (n.2189+620C>G) c.*327+620C>G (n.*327+620C>G) c.608+620C>G | dbSNP |
| 17 | g.80113987C= | CA2277815907 | GAA | c.2189+621C= (n.2189+621C=) c.*327+621C= (n.*327+621C=) c.608+621C= | |
| 17 | g.80113987C>G | CA775519738 | GAA | c.2189+621C>G (n.2189+621C>G) c.*327+621C>G (n.*327+621C>G) c.608+621C>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113988A>G | CA2598861662 | GAA | c.2189+622A>G (n.2189+622A>G) c.*327+622A>G (n.*327+622A>G) c.608+622A>G | gnomAD v3 gnomAD v4 |
| 17 | g.80113989G>A | CA294898023 | GAA | c.2189+623G>A (n.2189+623G>A) c.*327+623G>A (n.*327+623G>A) c.608+623G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113989G= | CA2277815908 | GAA | c.2189+623G= (n.2189+623G=) c.*327+623G= (n.*327+623G=) c.608+623G= | |
| 17 | g.80113993G>A | CA294898027 | GAA | c.2189+627G>A (n.2189+627G>A) c.*327+627G>A (n.*327+627G>A) c.608+627G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113993G= | CA2277815909 | GAA | c.2189+627G= (n.2189+627G=) c.*327+627G= (n.*327+627G=) c.608+627G= | |
| 17 | g.80113994T>G | CA2598861663 | GAA | c.2189+628T>G (n.2189+628T>G) c.*327+628T>G (n.*327+628T>G) c.608+628T>G | gnomAD v3 gnomAD v4 |
| 17 | g.80113998A>C | CA986709142 | GAA | c.2189+632A>C (n.2189+632A>C) c.*327+632A>C (n.*327+632A>C) c.608+632A>C | gnomAD v3 gnomAD v4 |
| 17 | g.80113999C>A | CA986709145 | GAA | c.2189+633C>A (n.2189+633C>A) c.*327+633C>A (n.*327+633C>A) c.608+633C>A | gnomAD v3 gnomAD v4 |
| 17 | g.80113999_80114002del | CA2741558928 | GAA | c.2189+633_2189+636del (n.2189+633_2189+636del) c.*327+633_*327+636del (n.*327+633_*327+636del) c.608+633_608+636del | |
| 17 | g.80114001C>A | CA986709146 | GAA | c.2189+635C>A (n.2189+635C>A) c.*327+635C>A (n.*327+635C>A) c.608+635C>A | gnomAD v3 gnomAD v4 |
| 17 | g.80114001C= | CA2277815910 | GAA | c.2189+635C= (n.2189+635C=) c.*327+635C= (n.*327+635C=) c.608+635C= | |
| 17 | g.80114001C>T | CA627699867 | GAA | c.2189+635C>T (n.2189+635C>T) c.*327+635C>T (n.*327+635C>T) c.608+635C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80114002C>A | CA986709148 | GAA | c.2189+636C>A (n.2189+636C>A) c.*327+636C>A (n.*327+636C>A) c.608+636C>A | gnomAD v3 gnomAD v4 |
| 17 | g.80114003A= | CA2277815911 | GAA | c.2189+637A= (n.2189+637A=) c.*327+637A= (n.*327+637A=) c.608+637A= | |
| 17 | g.80114003A>G | CA2277815912 | GAA | c.2189+637A>G (n.2189+637A>G) c.*327+637A>G (n.*327+637A>G) c.608+637A>G | dbSNP |
| 17 | g.80114003_80114004insAAAA | CA2741558929 | GAA | c.2189+637_2189+638insAAAA (n.2189+637_2189+638insAAAA) c.*327+637_*327+638insAAAA (n.*327+637_*327+638insAAAA) c.608+637_608+638insAAAA | |
| 17 | g.80114004T>A | CA986709149 | GAA | c.2189+638T>A (n.2189+638T>A) c.*327+638T>A (n.*327+638T>A) c.608+638T>A | gnomAD v3 gnomAD v4 |
| 17 | g.80114004_80114007del | CA2810586220 | GAA | c.2189+638_2189+641del (n.2189+638_2189+641del) c.*327+638_*327+641del (n.*327+638_*327+641del) c.608+638_608+641del | |
| 17 | g.80114005C>A | CA986709151 | GAA | c.2189+639C>A (n.2189+639C>A) c.*327+639C>A (n.*327+639C>A) c.608+639C>A | gnomAD v3 gnomAD v4 |
| 17 | g.80114005C= | CA2277815913 | GAA | c.2189+639C= (n.2189+639C=) c.*327+639C= (n.*327+639C=) c.608+639C= | |
| 17 | g.80114005C>T | CA294898033 | GAA | c.2189+639C>T (n.2189+639C>T) c.*327+639C>T (n.*327+639C>T) c.608+639C>T | dbSNP |
| 17 | g.80114006T>A | CA986709152 | GAA | c.2189+640T>A (n.2189+640T>A) c.*327+640T>A (n.*327+640T>A) c.608+640T>A | gnomAD v3 gnomAD v4 |
| 17 | g.80114006T>C | CA986709154 | GAA | c.2189+640T>C (n.2189+640T>C) c.*327+640T>C (n.*327+640T>C) c.608+640T>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80114006T= | CA2277815914 | GAA | c.2189+640T= (n.2189+640T=) c.*327+640T= (n.*327+640T=) c.608+640T= | |
| 17 | g.80114007C>A | CA627699868 | GAA | c.2189+641C>A (n.2189+641C>A) c.*327+641C>A (n.*327+641C>A) c.608+641C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80114007C= | CA2277815915 | GAA | c.2189+641C= (n.2189+641C=) c.*327+641C= (n.*327+641C=) c.608+641C= | |
| 17 | g.80114007_80114009delinsCAA | CA2277815916 | GAA | c.2189+641_2189+643delinsCAA (n.2189+641_2189+643delinsCAA) c.*327+641_*327+643delinsCAA (n.*327+641_*327+643delinsCAA) c.608+641_608+643delinsCAA | |
| 17 | g.80114008A= | CA2277815917 | GAA | c.2189+642A= (n.2189+642A=) c.*327+642A= (n.*327+642A=) c.608+642A= | |
| 17 | g.80114008A>G | CA775519755 | GAA | c.2189+642A>G (n.2189+642A>G) c.*327+642A>G (n.*327+642A>G) c.608+642A>G | dbSNP |
| 17 | g.80114019dup | CA627699870 | GAA | c.2189+653dup (n.2189+653dup) c.*327+653dup (n.*327+653dup) c.608+653dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80114018_80114019dup | CA986709174 | GAA | c.2189+652_2189+653dup (n.2189+652_2189+653dup) c.*327+652_*327+653dup (n.*327+652_*327+653dup) c.608+652_608+653dup | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80114016_80114019dup | CA2810586255 | GAA | c.2189+650_2189+653dup (n.2189+650_2189+653dup) c.*327+650_*327+653dup (n.*327+650_*327+653dup) c.608+650_608+653dup | |
| 17 | g.80114014_80114019dup | CA986709169 | GAA | c.2189+648_2189+653dup (n.2189+648_2189+653dup) c.*327+648_*327+653dup (n.*327+648_*327+653dup) c.608+648_608+653dup | gnomAD v3 gnomAD v4 |
| 17 | g.80114012_80114019dup | CA986709159 | GAA | c.2189+646_2189+653dup (n.2189+646_2189+653dup) c.*327+646_*327+653dup (n.*327+646_*327+653dup) c.608+646_608+653dup | gnomAD v3 gnomAD v4 |
| 17 | g.80114019del | CA627699869 | GAA | c.2189+653del (n.2189+653del) c.*327+653del (n.*327+653del) c.608+653del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80114018_80114019del | CA986709165 | GAA | c.2189+652_2189+653del (n.2189+652_2189+653del) c.*327+652_*327+653del (n.*327+652_*327+653del) c.608+652_608+653del | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80114017_80114019del | CA986709161 | GAA | c.2189+651_2189+653del (n.2189+651_2189+653del) c.*327+651_*327+653del (n.*327+651_*327+653del) c.608+651_608+653del | gnomAD v3 gnomAD v4 |
| 17 | g.80114009A= | CA2277815918 | GAA | c.2189+643A= (n.2189+643A=) c.*327+643A= (n.*327+643A=) c.608+643A= | |
| 17 | g.80114009A>G | CA775519759 | GAA | c.2189+643A>G (n.2189+643A>G) c.*327+643A>G (n.*327+643A>G) c.608+643A>G | dbSNP |
| 17 | g.80114011A>G | CA2598861667 | GAA | c.2189+645A>G (n.2189+645A>G) c.*327+645A>G (n.*327+645A>G) c.608+645A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80114014A= | CA2277815919 | GAA | c.2189+648A= (n.2189+648A=) c.*327+648A= (n.*327+648A=) c.608+648A= | |
| 17 | g.80114014A>G | CA2810586256 | GAA | c.2189+648A>G (n.2189+648A>G) c.*327+648A>G (n.*327+648A>G) c.608+648A>G | |
| 17 | g.80114014A>T | CA775519760 | GAA | c.2189+648A>T (n.2189+648A>T) c.*327+648A>T (n.*327+648A>T) c.608+648A>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80114015_80114016insG | CA2734097886 | GAA | c.2189+649_2189+650insG (n.2189+649_2189+650insG) c.*327+649_*327+650insG (n.*327+649_*327+650insG) c.608+649_608+650insG | dbSNP |
| 17 | g.80114016A>G | CA2598861668 | GAA | c.2189+650A>G (n.2189+650A>G) c.*327+650A>G (n.*327+650A>G) c.608+650A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80114017A= | CA2277815921 | GAA | c.2189+651A= (n.2189+651A=) c.*327+651A= (n.*327+651A=) c.608+651A= | |
| 17 | g.80114017A>G | CA2277815922 | GAA | c.2189+651A>G (n.2189+651A>G) c.*327+651A>G (n.*327+651A>G) c.608+651A>G | dbSNP |
| 17 | g.80114017A>T | CA2598861669 | GAA | c.2189+651A>T (n.2189+651A>T) c.*327+651A>T (n.*327+651A>T) c.608+651A>T | gnomAD v3 gnomAD v4 |
| 17 | g.80114017_80114021delinsAAACC | CA2277815920 | GAA | c.2189+651_2189+655delinsAAACC (n.2189+651_2189+655delinsAAACC) c.*327+651_*327+655delinsAAACC (n.*327+651_*327+655delinsAAACC) c.608+651_608+655delinsAAACC | |
| 17 | g.80114020_80114023del | CA775519762 | GAA | c.2189+654_2189+657del (n.2189+654_2189+657del) c.*327+654_*327+657del (n.*327+654_*327+657del) c.608+654_608+657del | dbSNP |
| 17 | g.80114020C>A | CA294898034 | GAA | c.2189+654C>A (n.2189+654C>A) c.*327+654C>A (n.*327+654C>A) c.608+654C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80114020C= | CA2277815923 | GAA | c.2189+654C= (n.2189+654C=) c.*327+654C= (n.*327+654C=) c.608+654C= | |
| 17 | g.80114021del | CA2598861670 | GAA | c.2189+655del (n.2189+655del) c.*327+655del (n.*327+655del) c.608+655del | gnomAD v3 gnomAD v4 |
| 17 | g.80114021C>A | CA627699901 | GAA | c.2189+655C>A (n.2189+655C>A) c.*327+655C>A (n.*327+655C>A) c.608+655C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80114021C= | CA2277815924 | GAA | c.2189+655C= (n.2189+655C=) c.*327+655C= (n.*327+655C=) c.608+655C= | |
| 17 | g.80114021C>G | CA775519765 | GAA | c.2189+655C>G (n.2189+655C>G) c.*327+655C>G (n.*327+655C>G) c.608+655C>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80114021C>T | CA775519764 | GAA | c.2189+655C>T (n.2189+655C>T) c.*327+655C>T (n.*327+655C>T) c.608+655C>T | dbSNP |
| 17 | g.80114024G>A | CA986709192 | GAA | c.2189+658G>A (n.2189+658G>A) c.*327+658G>A (n.*327+658G>A) c.608+658G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80114024G= | CA2277815925 | GAA | c.2189+658G= (n.2189+658G=) c.*327+658G= (n.*327+658G=) c.608+658G= | |
| 17 | g.80114024G>T | CA294898035 | GAA | c.2189+658G>T (n.2189+658G>T) c.*327+658G>T (n.*327+658G>T) c.608+658G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80114025C>A | CA986709194 | GAA | c.2189+659C>A (n.2189+659C>A) c.*327+659C>A (n.*327+659C>A) c.608+659C>A | gnomAD v3 gnomAD v4 |