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.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.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.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= | |
| 17 | g.80113892C= | CA2277815839 | GAA | c.2189+526C= (n.2189+526C=) c.*327+526C= (n.*327+526C=) c.608+526C= | |
| 17 | g.80113892C>G | CA2810586188 | GAA | c.2189+526C>G (n.2189+526C>G) c.*327+526C>G (n.*327+526C>G) c.608+526C>G | |
| 17 | g.80113892C>T | CA627699859 | GAA | c.2189+526C>T (n.2189+526C>T) c.*327+526C>T (n.*327+526C>T) c.608+526C>T | dbSNP gnomAD v2 |
| 17 | g.80113893C= | CA2277815840 | GAA | c.2189+527C= (n.2189+527C=) c.*327+527C= (n.*327+527C=) c.608+527C= | |
| 17 | g.80113893C>T | CA775519647 | GAA | c.2189+527C>T (n.2189+527C>T) c.*327+527C>T (n.*327+527C>T) c.608+527C>T | dbSNP |
| 17 | g.80113898G>A | CA627699860 | GAA | c.2189+532G>A (n.2189+532G>A) c.*327+532G>A (n.*327+532G>A) c.608+532G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113898G= | CA2277815841 | GAA | c.2189+532G= (n.2189+532G=) c.*327+532G= (n.*327+532G=) c.608+532G= | |
| 17 | g.80113903T>A | CA627699861 | GAA | c.2189+537T>A (n.2189+537T>A) c.*327+537T>A (n.*327+537T>A) c.608+537T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113903T= | CA2277815842 | GAA | c.2189+537T= (n.2189+537T=) c.*327+537T= (n.*327+537T=) c.608+537T= | |
| 17 | g.80113904G>A | CA294897931 | GAA | c.2189+538G>A (n.2189+538G>A) c.*327+538G>A (n.*327+538G>A) c.608+538G>A | dbSNP |
| 17 | g.80113904G>C | CA775519651 | GAA | c.2189+538G>C (n.2189+538G>C) c.*327+538G>C (n.*327+538G>C) c.608+538G>C | dbSNP |
| 17 | g.80113904G= | CA2277815843 | GAA | c.2189+538G= (n.2189+538G=) c.*327+538G= (n.*327+538G=) c.608+538G= | |
| 17 | g.80113905_80113906delinsCT | CA2277815844 | GAA | c.2189+539_2189+540delinsCT (n.2189+539_2189+540delinsCT) c.*327+539_*327+540delinsCT (n.*327+539_*327+540delinsCT) c.608+539_608+540delinsCT | |
| 17 | g.80113906del | CA627699862 | GAA | c.2189+540del (n.2189+540del) c.*327+540del (n.*327+540del) c.608+540del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113906T>C | CA294897937 | GAA | c.2189+540T>C (n.2189+540T>C) c.*327+540T>C (n.*327+540T>C) c.608+540T>C | dbSNP COSMIC |
| 17 | g.80113906T= | CA2277815845 | GAA | c.2189+540T= (n.2189+540T=) c.*327+540T= (n.*327+540T=) c.608+540T= | |
| 17 | g.80113909_80113911delinsTCA | CA2277815846 | GAA | c.2189+543_2189+545delinsTCA (n.2189+543_2189+545delinsTCA) c.*327+543_*327+545delinsTCA (n.*327+543_*327+545delinsTCA) c.608+543_608+545delinsTCA | |
| 17 | g.80113910C>T | CA2810586196 | GAA | c.2189+544C>T (n.2189+544C>T) c.*327+544C>T (n.*327+544C>T) c.608+544C>T | |
| 17 | g.80113910_80113911del | CA627699863 | GAA | c.2189+544_2189+545del (n.2189+544_2189+545del) c.*327+544_*327+545del (n.*327+544_*327+545del) c.608+544_608+545del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113911A= | CA2277815847 | GAA | c.2189+545A= (n.2189+545A=) c.*327+545A= (n.*327+545A=) c.608+545A= | |
| 17 | g.80113911A>G | CA775519671 | GAA | c.2189+545A>G (n.2189+545A>G) c.*327+545A>G (n.*327+545A>G) c.608+545A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113911A>T | CA2733961383 | GAA | c.2189+545A>T (n.2189+545A>T) c.*327+545A>T (n.*327+545A>T) c.608+545A>T | dbSNP |
| 17 | g.80113911_80113912insTTG | CA627699864 | GAA | c.2189+545_2189+546insTTG (n.2189+545_2189+546insTTG) c.*327+545_*327+546insTTG (n.*327+545_*327+546insTTG) c.608+545_608+546insTTG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113918T>C | CA775519673 | GAA | c.2189+552T>C (n.2189+552T>C) c.*327+552T>C (n.*327+552T>C) c.608+552T>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113918T= | CA2277815848 | GAA | c.2189+552T= (n.2189+552T=) c.*327+552T= (n.*327+552T=) c.608+552T= | |
| 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.80113919G>A | CA294897954 | GAA | c.2189+553G>A (n.2189+553G>A) c.*327+553G>A (n.*327+553G>A) c.608+553G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80113919G= | CA2277815851 | GAA | c.2189+553G= (n.2189+553G=) c.*327+553G= (n.*327+553G=) c.608+553G= | |
| 17 | g.80113919G>T | CA986709106 | GAA | c.2189+553G>T (n.2189+553G>T) c.*327+553G>T (n.*327+553G>T) c.608+553G>T | dbSNP gnomAD v3 gnomAD v4 |
| 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.80113924C>A | CA2277815853 | GAA | c.2189+558C>A (n.2189+558C>A) c.*327+558C>A (n.*327+558C>A) c.608+558C>A | dbSNP |
| 17 | g.80113924C= | CA2277815852 | GAA | c.2189+558C= (n.2189+558C=) c.*327+558C= (n.*327+558C=) c.608+558C= | |
| 17 | g.80113924C>G | CA986709107 | GAA | c.2189+558C>G (n.2189+558C>G) c.*327+558C>G (n.*327+558C>G) c.608+558C>G | dbSNP gnomAD v3 gnomAD v4 |
| 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= |