Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70175846A>C | CA501700357 | KCNJ2 | c.807A>C (p.Ile269=) | |
17 | g.70175846A>G | CA400862153 | KCNJ2 | c.807A>G (p.Ile269Met) | gnomAD v4 |
17 | g.70175846A>T | CA501700358 | KCNJ2 | c.807A>T (p.Ile269=) | |
17 | g.70175847G>A | CA400862155 | KCNJ2 | c.808G>A (p.Val270Ile) | |
17 | g.70175847G>C | CA400862157 | KCNJ2 | c.808G>C (p.Val270Leu) | gnomAD v4 |
17 | g.70175847G>T | CA400862159 | KCNJ2 | c.808G>T (p.Val270Phe) | |
17 | g.70175848T>A | CA400862161 | KCNJ2 | c.809T>A (p.Val270Asp) | |
17 | g.70175848T>C | CA400862163 | KCNJ2 | c.809T>C (p.Val270Ala) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175848T>G | CA400862165 | KCNJ2 | c.809T>G (p.Val270Gly) | |
17 | g.70175848T= | CA2272996706 | KCNJ2 | c.809T= (p.Val270=) | |
17 | g.70175849C>A | CA501700364 | KCNJ2 | c.810C>A (p.Val270=) | |
17 | g.70175849C= | CA2272996707 | KCNJ2 | c.810C= (p.Val270=) | |
17 | g.70175849C>G | CA501700365 | KCNJ2 | c.810C>G (p.Val270=) | |
17 | g.70175849C>T | CA293702926 | KCNJ2 | c.810C>T (p.Val270=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175850C>A | CA400862168 | KCNJ2 | c.811C>A (p.His271Asn) | |
17 | g.70175850C>G | CA400862169 | KCNJ2 | c.811C>G (p.His271Asp) | |
17 | g.70175850C>T | CA400862171 | KCNJ2 | c.811C>T (p.His271Tyr) | |
17 | g.70175851A>C | CA400862176 | KCNJ2 | c.812A>C (p.His271Pro) | gnomAD v4 |
17 | g.70175851A>G | CA400862178 | KCNJ2 | c.812A>G (p.His271Arg) | |
17 | g.70175851A>T | CA400862174 | KCNJ2 | c.812A>T (p.His271Leu) | |
17 | g.70175852T>A | CA400862180 | KCNJ2 | c.813T>A (p.His271Gln) | |
17 | g.70175852T>C | CA501700371 | KCNJ2 | c.813T>C (p.His271=) | |
17 | g.70175852T>G | CA400862182 | KCNJ2 | c.813T>G (p.His271Gln) | |
17 | g.70175853G>A | CA400862184 | KCNJ2 | c.814G>A (p.Glu272Lys) | |
17 | g.70175853G>C | CA400862186 | KCNJ2 | c.814G>C (p.Glu272Gln) | |
17 | g.70175853G>T | CA400862188 | KCNJ2 | c.814G>T (p.Glu272Ter) | |
17 | g.70175854A>C | CA400862190 | KCNJ2 | c.815A>C (p.Glu272Ala) | |
17 | g.70175854A>G | CA400862193 | KCNJ2 | c.815A>G (p.Glu272Gly) | |
17 | g.70175854A>T | CA400862195 | KCNJ2 | c.815A>T (p.Glu272Val) | |
17 | g.70175855A>C | CA400862197 | KCNJ2 | c.816A>C (p.Glu272Asp) | |
17 | g.70175855A>G | CA501700375 | KCNJ2 | c.816A>G (p.Glu272=) | |
17 | g.70175855A>T | CA400862199 | KCNJ2 | c.816A>T (p.Glu272Asp) | |
17 | g.70175856A= | CA2272996708 | KCNJ2 | c.817A= (p.Ile273=) | |
17 | g.70175856A>C | CA400862201 | KCNJ2 | c.817A>C (p.Ile273Leu) | |
17 | g.70175856A>G | CA400862203 | KCNJ2 | c.817A>G (p.Ile273Val) | dbSNP |
17 | g.70175856A>T | CA400862205 | KCNJ2 | c.817A>T (p.Ile273Leu) | |
17 | g.70175857T>A | CA400862207 | KCNJ2 | c.818T>A (p.Ile273Lys) | |
17 | g.70175857T>C | CA400862209 | KCNJ2 | c.818T>C (p.Ile273Thr) | |
17 | g.70175857T>G | CA400862211 | KCNJ2 | c.818T>G (p.Ile273Arg) | |
17 | g.70175858A= | CA2272996709 | KCNJ2 | c.819A= (p.Ile273=) | |
17 | g.70175858A>C | CA501700379 | KCNJ2 | c.819A>C (p.Ile273=) | |
17 | g.70175858A>G | CA400862213 | KCNJ2 | c.819A>G (p.Ile273Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175858A>T | CA501700383 | KCNJ2 | c.819A>T (p.Ile273=) | |
17 | g.70175859G>A | CA400862215 | KCNJ2 | c.820G>A (p.Asp274Asn) | |
17 | g.70175859G>C | CA400862218 | KCNJ2 | c.820G>C (p.Asp274His) | |
17 | g.70175859G>T | CA400862220 | KCNJ2 | c.820G>T (p.Asp274Tyr) | |
17 | g.70175860A= | CA2272996710 | KCNJ2 | c.821A= (p.Asp274=) | |
17 | g.70175860A>C | CA400862221 | KCNJ2 | c.821A>C (p.Asp274Ala) | |
17 | g.70175860A>G | CA400862223 | KCNJ2 | c.821A>G (p.Asp274Gly) | gnomAD v4 |
17 | g.70175860A>T | CA302049 | KCNJ2 | c.821A>T (p.Asp274Val) | ClinVar dbSNP gnomAD v4 |