Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70175935_70175943del | CA2695226996 | KCNJ2 | c.896_904del (p.Glu299_Met301del) | |
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) | |
17 | g.70175948A>G | CA501700656 | KCNJ2 | c.909A>G (p.Glu303=) | |
17 | g.70175948A>T | CA400862634 | KCNJ2 | c.909A>T (p.Glu303Asp) | |
17 | g.70175949G>A | CA400862635 | KCNJ2 | c.910G>A (p.Ala304Thr) | |
17 | g.70175949G>C | CA400862637 | KCNJ2 | c.910G>C (p.Ala304Pro) | |
17 | g.70175949G>T | CA400862639 | KCNJ2 | c.910G>T (p.Ala304Ser) | |
17 | g.70175950C>A | CA400862641 | KCNJ2 | c.911C>A (p.Ala304Asp) | |
17 | g.70175950C>G | CA400862643 | KCNJ2 | c.911C>G (p.Ala304Gly) | |
17 | g.70175950C>T | CA400862645 | KCNJ2 | c.911C>T (p.Ala304Val) | |
17 | g.70175951C>A | CA501700662 | KCNJ2 | c.912C>A (p.Ala304=) | |
17 | g.70175951C>G | CA501700663 | KCNJ2 | c.912C>G (p.Ala304=) | |
17 | g.70175951C>T | CA501700666 | KCNJ2 | c.912C>T (p.Ala304=) | |
17 | g.70175952A= | CA2272996738 | KCNJ2 | c.913A= (p.Thr305=) | |
17 | g.70175952A>C | CA259745 | KCNJ2 | c.913A>C (p.Thr305Pro) | ClinVar dbSNP |
17 | g.70175952A>G | CA145022 | KCNJ2 | c.913A>G (p.Thr305Ala) | ClinVar dbSNP |
17 | g.70175952A>T | CA400862650 | KCNJ2 | c.913A>T (p.Thr305Ser) | |
17 | g.70175953C>A | CA400862652 | KCNJ2 | c.914C>A (p.Thr305Asn) | |
17 | g.70175953C>G | CA400862655 | KCNJ2 | c.914C>G (p.Thr305Ser) | |
17 | g.70175953C>T | CA400862654 | KCNJ2 | c.914C>T (p.Thr305Ile) |