Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
17 | g.70175100T>A | CA400859773 | KCNJ2 | c.61T>A (p.Leu21Met) | |
17 | g.70175100T>C | CA501700145 | KCNJ2 | c.61T>C (p.Leu21=) | |
17 | g.70175100T>G | CA400859774 | KCNJ2 | c.61T>G (p.Leu21Val) | |
17 | g.70175101T>A | CA400859775 | KCNJ2 | c.62T>A (p.Leu21Ter) | |
17 | g.70175101T>C | CA400859776 | KCNJ2 | c.62T>C (p.Leu21Ser) | |
17 | g.70175101T>G | CA400859777 | KCNJ2 | c.62T>G (p.Leu21Trp) | |
17 | g.70175102G>A | CA501700149 | KCNJ2 | c.63G>A (p.Leu21=) | |
17 | g.70175102G>C | CA400859779 | KCNJ2 | c.63G>C (p.Leu21Phe) | |
17 | g.70175102G>T | CA400859778 | KCNJ2 | c.63G>T (p.Leu21Phe) | dbSNP |
17 | g.70175103G>A | CA400859780 | KCNJ2 | c.64G>A (p.Ala22Thr) | gnomAD v4 |
17 | g.70175103G>C | CA400859782 | KCNJ2 | c.64G>C (p.Ala22Pro) | |
17 | g.70175103G>T | CA400859781 | KCNJ2 | c.64G>T (p.Ala22Ser) | |
17 | g.70175104C>A | CA400859783 | KCNJ2 | c.65C>A (p.Ala22Asp) | |
17 | g.70175104C>G | CA400859785 | KCNJ2 | c.65C>G (p.Ala22Gly) | |
17 | g.70175104C>T | CA400859784 | KCNJ2 | c.65C>T (p.Ala22Val) | |
17 | g.70175105C>A | CA501700153 | KCNJ2 | c.66C>A (p.Ala22=) | |
17 | g.70175105C>G | CA501700154 | KCNJ2 | c.66C>G (p.Ala22=) | |
17 | g.70175105C>T | CA501700155 | KCNJ2 | c.66C>T (p.Ala22=) | COSMIC |
17 | g.70175106A>C | CA400859786 | KCNJ2 | c.67A>C (p.Thr23Pro) | |
17 | g.70175106A>G | CA400859788 | KCNJ2 | c.67A>G (p.Thr23Ala) | |
17 | g.70175106A>T | CA400859787 | KCNJ2 | c.67A>T (p.Thr23Ser) | |
17 | g.70175107C>A | CA400859789 | KCNJ2 | c.68C>A (p.Thr23Asn) | |
17 | g.70175107C>G | CA400859791 | KCNJ2 | c.68C>G (p.Thr23Ser) | |
17 | g.70175107C>T | CA400859790 | KCNJ2 | c.68C>T (p.Thr23Ile) | |
17 | g.70175108C>A | CA501700157 | KCNJ2 | c.69C>A (p.Thr23=) | |
17 | g.70175108C>G | CA501700158 | KCNJ2 | c.69C>G (p.Thr23=) | |
17 | g.70175108C>T | CA501700159 | KCNJ2 | c.69C>T (p.Thr23=) | gnomAD v4 |
17 | g.70175109A= | CA2272996429 | KCNJ2 | c.70A= (p.Met24=) | |
17 | g.70175109A>C | CA400859792 | KCNJ2 | c.70A>C (p.Met24Leu) | |
17 | g.70175109A>G | CA400859793 | KCNJ2 | c.70A>G (p.Met24Val) | ClinVar dbSNP gnomAD v4 |
17 | g.70175109A>T | CA400859794 | KCNJ2 | c.70A>T (p.Met24Leu) | |
17 | g.70175110T>A | CA400859795 | KCNJ2 | c.71T>A (p.Met24Lys) | gnomAD v4 |
17 | g.70175110T>C | CA400859796 | KCNJ2 | c.71T>C (p.Met24Thr) | dbSNP |
17 | g.70175110T>G | CA400859797 | KCNJ2 | c.71T>G (p.Met24Arg) | |
17 | g.70175110T= | CA2272996430 | KCNJ2 | c.71T= (p.Met24=) | |
17 | g.70175111G>A | CA400859798 | KCNJ2 | c.72G>A (p.Met24Ile) | |
17 | g.70175111G>C | CA400859799 | KCNJ2 | c.72G>C (p.Met24Ile) | |
17 | g.70175111G>T | CA400859800 | KCNJ2 | c.72G>T (p.Met24Ile) | |
17 | g.70175112G>A | CA400859801 | KCNJ2 | c.73G>A (p.Ala25Thr) | COSMIC |
17 | g.70175112G>C | CA400859802 | KCNJ2 | c.73G>C (p.Ala25Pro) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175112G= | CA2272996431 | KCNJ2 | c.73G= (p.Ala25=) | |
17 | g.70175112G>T | CA400859803 | KCNJ2 | c.73G>T (p.Ala25Ser) | |
17 | g.70175113C>A | CA400859806 | KCNJ2 | c.74C>A (p.Ala25Glu) | |
17 | g.70175113C>G | CA400859805 | KCNJ2 | c.74C>G (p.Ala25Gly) | |
17 | g.70175113C>T | CA400859804 | KCNJ2 | c.74C>T (p.Ala25Val) | gnomAD v4 |
17 | g.70175114A= | CA2272996432 | KCNJ2 | c.75A= (p.Ala25=) | |
17 | g.70175114A>C | CA501700163 | KCNJ2 | c.75A>C (p.Ala25=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175114A>G | CA501700164 | KCNJ2 | c.75A>G (p.Ala25=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175114A>T | CA501700165 | KCNJ2 | c.75A>T (p.Ala25=) |