| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.70175935_70175943del | CA2695226996 | KCNJ2 | c.896_904del (p.Glu299_Met301del) | |
| 17 | g.70175935A= | CA2272996730 | KCNJ2 | c.896A= (p.Glu299=) | |
| 17 | g.70175935A>C | CA400862580 | KCNJ2 | c.896A>C (p.Glu299Ala) | |
| 17 | g.70175935A>G | CA400862582 | KCNJ2 | c.896A>G (p.Glu299Gly) | ClinVar dbSNP |
| 17 | g.70175935A>T | CA302052 | KCNJ2 | c.896A>T (p.Glu299Val) | ClinVar dbSNP |
| 17 | g.70175936A= | CA2272996731 | KCNJ2 | c.897A= (p.Glu299=) | |
| 17 | g.70175936A>C | CA400862584 | KCNJ2 | c.897A>C (p.Glu299Asp) | dbSNP |
| 17 | g.70175936A>G | CA501700617 | KCNJ2 | c.897A>G (p.Glu299=) | |
| 17 | g.70175936A>T | CA400862585 | KCNJ2 | c.897A>T (p.Glu299Asp) | |
| 17 | g.70175937G>A | CA400862587 | KCNJ2 | c.898G>A (p.Gly300Ser) | COSMIC |
| 17 | g.70175937G>C | CA400862589 | KCNJ2 | c.898G>C (p.Gly300Arg) | |
| 17 | g.70175937G>T | CA400862591 | KCNJ2 | c.898G>T (p.Gly300Cys) | |
| 17 | g.70175938G>A | CA329702 | KCNJ2 | c.899G>A (p.Gly300Asp) | ClinVar dbSNP |
| 17 | g.70175938G>C | CA329705 | KCNJ2 | c.899G>C (p.Gly300Ala) | ClinVar dbSNP gnomAD v4 |
| 17 | g.70175938G= | CA2272996732 | KCNJ2 | c.899G= (p.Gly300=) | |
| 17 | g.70175938G>T | CA254594 | KCNJ2 | c.899G>T (p.Gly300Val) | ClinVar dbSNP |
| 17 | g.70175939C>A | CA501700629 | KCNJ2 | c.900C>A (p.Gly300=) | |
| 17 | g.70175939C>G | CA501700630 | KCNJ2 | c.900C>G (p.Gly300=) | |
| 17 | g.70175939C>T | CA501700631 | KCNJ2 | c.900C>T (p.Gly300=) | |
| 17 | g.70175940A= | CA2272996733 | KCNJ2 | c.901A= (p.Met301=) | |
| 17 | g.70175940A>C | CA16608631 | KCNJ2 | c.901A>C (p.Met301Leu) | ClinVar dbSNP |
| 17 | g.70175940A>G | CA302055 | KCNJ2 | c.901A>G (p.Met301Val) | ClinVar dbSNP gnomAD v4 |
| 17 | g.70175940A>T | CA400862599 | KCNJ2 | c.901A>T (p.Met301Leu) | |
| 17 | g.70175941T>A | CA400862603 | KCNJ2 | c.902T>A (p.Met301Lys) | ClinVar |
| 17 | g.70175941T>C | CA400862606 | KCNJ2 | c.902T>C (p.Met301Thr) | |
| 17 | g.70175941T>G | CA10577578 | KCNJ2 | c.902T>G (p.Met301Arg) | ClinVar dbSNP |
| 17 | g.70175941T= | CA2272996734 | KCNJ2 | c.902T= (p.Met301=) | |
| 17 | g.70175944_70175946del | CA2695226997 | KCNJ2 | c.905_907del (p.Val302del) | |
| 17 | g.70175942G>A | CA400862609 | KCNJ2 | c.903G>A (p.Met301Ile) | |
| 17 | g.70175942G>C | CA400862611 | KCNJ2 | c.903G>C (p.Met301Ile) | |
| 17 | g.70175942G>T | CA400862612 | KCNJ2 | c.903G>T (p.Met301Ile) | |
| 17 | g.70175943G>A | CA254598 | KCNJ2 | c.904G>A (p.Val302Met) | ClinVar dbSNP |
| 17 | g.70175943G>C | CA400862615 | KCNJ2 | c.904G>C (p.Val302Leu) | |
| 17 | g.70175943G= | CA2272996735 | KCNJ2 | c.904G= (p.Val302=) | |
| 17 | g.70175943G>T | CA400862616 | KCNJ2 | c.904G>T (p.Val302Leu) | |
| 17 | g.70175944T>A | CA400862619 | KCNJ2 | c.905T>A (p.Val302Glu) | |
| 17 | g.70175944T>C | CA400862621 | KCNJ2 | c.905T>C (p.Val302Ala) | |
| 17 | g.70175944T>G | CA400862623 | KCNJ2 | c.905T>G (p.Val302Gly) | dbSNP |
| 17 | g.70175944T= | CA2272996736 | KCNJ2 | c.905T= (p.Val302=) | |
| 17 | g.70175945G>A | CA501700643 | KCNJ2 | c.906G>A (p.Val302=) | |
| 17 | g.70175945G>C | CA501700648 | KCNJ2 | c.906G>C (p.Val302=) | |
| 17 | g.70175945G>T | CA501700649 | KCNJ2 | c.906G>T (p.Val302=) | |
| 17 | g.70175946G>A | CA329708 | KCNJ2 | c.907G>A (p.Glu303Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.70175946G>C | CA400862626 | KCNJ2 | c.907G>C (p.Glu303Gln) | ClinVar dbSNP |
| 17 | g.70175946G= | CA2272996737 | KCNJ2 | c.907G= (p.Glu303=) | |
| 17 | g.70175946G>T | CA400862628 | KCNJ2 | c.907G>T (p.Glu303Ter) | |
| 17 | g.70175947A>C | CA400862632 | KCNJ2 | c.908A>C (p.Glu303Ala) | |
| 17 | g.70175947A>G | CA400862630 | KCNJ2 | c.908A>G (p.Glu303Gly) | |
| 17 | g.70175947A>T | CA400862631 | KCNJ2 | c.908A>T (p.Glu303Val) | |
| 17 | g.70175948A>C | CA400862633 | KCNJ2 | c.909A>C (p.Glu303Asp) |