Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70175944_70175946del | CA2695226997 | KCNJ2 | c.905_907del (p.Val302del) | |
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) | |
17 | g.70175954T>A | CA501700678 | KCNJ2 | c.915T>A (p.Thr305=) | |
17 | g.70175954T>C | CA501700679 | KCNJ2 | c.915T>C (p.Thr305=) | |
17 | g.70175954T>G | CA501700677 | KCNJ2 | c.915T>G (p.Thr305=) | |
17 | g.70175954_70175957delinsTGCC | CA2272996739 | KCNJ2 | c.915_918delinsTGCC (p.Thr305=) | |
17 | g.70175955G>A | CA400862658 | KCNJ2 | c.916G>A (p.Ala306Thr) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175955G>C | CA400862660 | KCNJ2 | c.916G>C (p.Ala306Pro) | |
17 | g.70175955G= | CA2272996740 | KCNJ2 | c.916G= (p.Ala306=) | |
17 | g.70175955G>T | CA400862662 | KCNJ2 | c.916G>T (p.Ala306Ser) | |
17 | g.70175955_70175957del | CA302079 | KCNJ2 | c.916_918del (p.Ala306del) | ClinVar dbSNP |
17 | g.70175956C>A | CA400862668 | KCNJ2 | c.917C>A (p.Ala306Asp) | |
17 | g.70175956C>G | CA400862664 | KCNJ2 | c.917C>G (p.Ala306Gly) | |
17 | g.70175956C>T | CA400862666 | KCNJ2 | c.917C>T (p.Ala306Val) | ClinVar |
17 | g.70175957C>A | CA501700684 | KCNJ2 | c.918C>A (p.Ala306=) | |
17 | g.70175957C= | CA2272996741 | KCNJ2 | c.918C= (p.Ala306=) | |
17 | g.70175957C>G | CA501700686 | KCNJ2 | c.918C>G (p.Ala306=) | |
17 | g.70175957C>T | CA293702929 | KCNJ2 | c.918C>T (p.Ala306=) | dbSNP |
17 | g.70175958A= | CA2272996742 | KCNJ2 | c.919A= (p.Met307=) | |
17 | g.70175958A>C | CA400862670 | KCNJ2 | c.919A>C (p.Met307Leu) | |
17 | g.70175958A>G | CA400862672 | KCNJ2 | c.919A>G (p.Met307Val) | ClinVar dbSNP gnomAD v4 |
17 | g.70175958A>T | CA400862674 | KCNJ2 | c.919A>T (p.Met307Leu) | |
17 | g.70175959T>A | CA400862681 | KCNJ2 | c.920T>A (p.Met307Lys) | |
17 | g.70175959T>C | CA400862678 | KCNJ2 | c.920T>C (p.Met307Thr) | |
17 | g.70175959T>G | CA400862677 | KCNJ2 | c.920T>G (p.Met307Arg) |