Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
17 | g.70175960G>A | CA329711 | KCNJ2 | c.921G>A (p.Met307Ile) | ClinVar dbSNP |
17 | g.70175960G>C | CA400862683 | KCNJ2 | c.921G>C (p.Met307Ile) | |
17 | g.70175960G= | CA2272996743 | KCNJ2 | c.921G= (p.Met307=) | |
17 | g.70175960G>T | CA400862685 | KCNJ2 | c.921G>T (p.Met307Ile) | |
17 | g.70175961A>C | CA400862687 | KCNJ2 | c.922A>C (p.Thr308Pro) | |
17 | g.70175961A>G | CA400862689 | KCNJ2 | c.922A>G (p.Thr308Ala) | |
17 | g.70175961A>T | CA400862691 | KCNJ2 | c.922A>T (p.Thr308Ser) | ClinVar dbSNP |
17 | g.70175962C>A | CA400862692 | KCNJ2 | c.923C>A (p.Thr308Lys) | |
17 | g.70175962C= | CA2272996744 | KCNJ2 | c.923C= (p.Thr308=) | |
17 | g.70175962C>G | CA400862695 | KCNJ2 | c.923C>G (p.Thr308Arg) | |
17 | g.70175962C>T | CA8738778 | KCNJ2 | c.923C>T (p.Thr308Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175963G>A | CA501700700 | KCNJ2 | c.924G>A (p.Thr308=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175963G>C | CA501700702 | KCNJ2 | c.924G>C (p.Thr308=) | |
17 | g.70175963G= | CA2272996745 | KCNJ2 | c.924G= (p.Thr308=) | |
17 | g.70175963G>T | CA501700704 | KCNJ2 | c.924G>T (p.Thr308=) | |
17 | g.70175964A>C | CA400862697 | KCNJ2 | c.925A>C (p.Thr309Pro) | |
17 | g.70175964A>G | CA400862698 | KCNJ2 | c.925A>G (p.Thr309Ala) | |
17 | g.70175964A>T | CA400862700 | KCNJ2 | c.925A>T (p.Thr309Ser) | |
17 | g.70175965C>A | CA400862702 | KCNJ2 | c.926C>A (p.Thr309Lys) | |
17 | g.70175965C= | CA2272996746 | KCNJ2 | c.926C= (p.Thr309=) |