Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.26338542T>A | CA2023391557 | ITPR2 | c.*855A>T (n.*855A>T) | dbSNP |
12 | g.26338542T>C | CA13583339 | ITPR2 | c.*855A>G (n.*855A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.26338542T>G | CA2023391558 | ITPR2 | c.*855A>C (n.*855A>C) | dbSNP |
12 | g.26338542T= | CA2023391555 | ITPR2 | c.*855A= (n.*855A=) | |
12 | g.26338544A= | CA2023391560 | ITPR2 | c.*853T= (n.*853T=) | |
12 | g.26338544A>T | CA234826979 | ITPR2 | c.*853T>A (n.*853T>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.26338546G>A | CA2618020140 | ITPR2 | c.*851C>T (n.*851C>T) | gnomAD v4 |
12 | g.26338547C>A | CA2618020141 | ITPR2 | c.*850G>T (n.*850G>T) | gnomAD v4 |
12 | g.26338548A>G | CA2540405960 | ITPR2 | c.*849T>C (n.*849T>C) | gnomAD v4 |
12 | g.26338549T>C | CA945833101 | ITPR2 | c.*848A>G (n.*848A>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.26338549T= | CA2023391562 | ITPR2 | c.*848A= (n.*848A=) | |
12 | g.26338552T>C | CA2794926477 | ITPR2 | c.*845A>G (n.*845A>G) | |
12 | g.26338553C= | CA2023391564 | ITPR2 | c.*844G= (n.*844G=) | |
12 | g.26338553C>T | CA686862071 | ITPR2 | c.*844G>A (n.*844G>A) | dbSNP |
12 | g.26338554A>T | CA2593592418 | ITPR2 | c.*843T>A (n.*843T>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.26338555T>A | CA2023391567 | ITPR2 | c.*842A>T (n.*842A>T) | dbSNP |
12 | g.26338555T>G | CA604260447 | ITPR2 | c.*842A>C (n.*842A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.26338555T= | CA2023391566 | ITPR2 | c.*842A= (n.*842A=) | |
12 | g.26338559T>C | CA234826980 | ITPR2 | c.*838A>G (n.*838A>G) | dbSNP |
12 | g.26338559T= | CA2023391570 | ITPR2 | c.*838A= (n.*838A=) | |
12 | g.26338561A= | CA2023391572 | ITPR2 | c.*836T= (n.*836T=) | |
12 | g.26338561A>G | CA686862082 | ITPR2 | c.*836T>C (n.*836T>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.26338564_26338569del | CA2593592420 | ITPR2 | c.*831_*836del (n.*831_*836del) | gnomAD v3 gnomAD v4 |
12 | g.26338562A= | CA2023391574 | ITPR2 | c.*835T= (n.*835T=) | |
12 | g.26338562A>C | CA604260448 | ITPR2 | c.*835T>G (n.*835T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.26338563T>C | CA686862086 | ITPR2 | c.*834A>G (n.*834A>G) | dbSNP |
12 | g.26338563T= | CA2023391576 | ITPR2 | c.*834A= (n.*834A=) | |
12 | g.26338565T>C | CA2023391579 | ITPR2 | c.*832A>G (n.*832A>G) | dbSNP |
12 | g.26338565T= | CA2023391577 | ITPR2 | c.*832A= (n.*832A=) | |
12 | g.26338566C= | CA2023391581 | ITPR2 | c.*831G= (n.*831G=) | |
12 | g.26338566C>T | CA686862092 | ITPR2 | c.*831G>A (n.*831G>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.26338569T>A | CA234826981 | ITPR2 | c.*828A>T (n.*828A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.26338569T= | CA2023391583 | ITPR2 | c.*828A= (n.*828A=) | |
12 | g.26338569_26338586delinsTATATTTTAATAGCATAC | CA2023391584 | ITPR2 | c.*811_*828delinsGTATGCTATTAAAATATA (n.*811_*828delinsGTATGCTATTAAAATATA) | |
12 | g.26338574_26338590del | CA945833111 | ITPR2 | c.*811_*827del (n.*811_*827del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.26338573T>C | CA234826982 | ITPR2 | c.*824A>G (n.*824A>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.26338573T>G | CA2023391588 | ITPR2 | c.*824A>C (n.*824A>C) | dbSNP |
12 | g.26338573T= | CA2023391586 | ITPR2 | c.*824A= (n.*824A=) | |
12 | g.26338576T>G | CA2794926478 | ITPR2 | c.*821A>C (n.*821A>C) | |
12 | g.26338578A= | CA2023391589 | ITPR2 | c.*819T= (n.*819T=) | |
12 | g.26338578A>G | CA686862097 | ITPR2 | c.*819T>C (n.*819T>C) | dbSNP gnomAD v4 |
12 | g.26338579T>A | CA2023391592 | ITPR2 | c.*818A>T (n.*818A>T) | dbSNP |
12 | g.26338579T= | CA2023391590 | ITPR2 | c.*818A= (n.*818A=) | |
12 | g.26338580A= | CA2023391594 | ITPR2 | c.*817T= (n.*817T=) | |
12 | g.26338580A>G | CA686862100 | ITPR2 | c.*817T>C (n.*817T>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.26338581G>T | CA2618020142 | ITPR2 | c.*816C>A (n.*816C>A) | gnomAD v4 |
12 | g.26338583A= | CA2023391597 | ITPR2 | c.*814T= (n.*814T=) | |
12 | g.26338583A>G | CA604260449 | ITPR2 | c.*814T>C (n.*814T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.26338583A>T | CA913698988 | ITPR2 | c.*814T>A (n.*814T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.26338586C>T | CA2618020143 | ITPR2 | c.*811G>A (n.*811G>A) | gnomAD v4 |