Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70175491C>A | CA400860627 | KCNJ2 | c.452C>A (p.Thr151Lys) | |
17 | g.70175491C= | CA2272996580 | KCNJ2 | c.452C= (p.Thr151=) | |
17 | g.70175491C>G | CA400860628 | KCNJ2 | c.452C>G (p.Thr151Arg) | |
17 | g.70175491C>T | CA8738730 | KCNJ2 | c.452C>T (p.Thr151Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175492G>A | CA8738731 | KCNJ2 | c.453G>A (p.Thr151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175492G>C | CA501700683 | KCNJ2 | c.453G>C (p.Thr151=) | ClinVar dbSNP |
17 | g.70175492G= | CA2272996581 | KCNJ2 | c.453G= (p.Thr151=) | |
17 | g.70175492G>T | CA501700682 | KCNJ2 | c.453G>T (p.Thr151=) | |
17 | g.70175493G>A | CA400860630 | KCNJ2 | c.454G>A (p.Asp152Asn) | |
17 | g.70175493G>C | CA400860631 | KCNJ2 | c.454G>C (p.Asp152His) | |
17 | g.70175493G>T | CA400860629 | KCNJ2 | c.454G>T (p.Asp152Tyr) | |
17 | g.70175494A>C | CA400860632 | KCNJ2 | c.455A>C (p.Asp152Ala) | |
17 | g.70175494A>G | CA400860633 | KCNJ2 | c.455A>G (p.Asp152Gly) | |
17 | g.70175494A>T | CA400860634 | KCNJ2 | c.455A>T (p.Asp152Val) | |
17 | g.70175495T>A | CA400860635 | KCNJ2 | c.456T>A (p.Asp152Glu) | |
17 | g.70175495T>C | CA501700685 | KCNJ2 | c.456T>C (p.Asp152=) | |
17 | g.70175495T>G | CA400860636 | KCNJ2 | c.456T>G (p.Asp152Glu) | dbSNP |
17 | g.70175495T= | CA2272996582 | KCNJ2 | c.456T= (p.Asp152=) | |
17 | g.70175496del | CA2695226995 | KCNJ2 | c.457del (p.Glu153AsnfsTer?) | |
17 | g.70175496G>A | CA400860639 | KCNJ2 | c.457G>A (p.Glu153Lys) | |
17 | g.70175496G>C | CA400860637 | KCNJ2 | c.457G>C (p.Glu153Gln) | |
17 | g.70175496G>T | CA400860638 | KCNJ2 | c.457G>T (p.Glu153Ter) | |
17 | g.70175497A>C | CA400860640 | KCNJ2 | c.458A>C (p.Glu153Ala) | |
17 | g.70175497A>G | CA400860641 | KCNJ2 | c.458A>G (p.Glu153Gly) | |
17 | g.70175497A>T | CA400860642 | KCNJ2 | c.458A>T (p.Glu153Val) | |
17 | g.70175498A= | CA2272996583 | KCNJ2 | c.459A= (p.Glu153=) | |
17 | g.70175498A>C | CA400860643 | KCNJ2 | c.459A>C (p.Glu153Asp) | ClinVar gnomAD v4 |
17 | g.70175498A>G | CA501700692 | KCNJ2 | c.459A>G (p.Glu153=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175498A>T | CA400860644 | KCNJ2 | c.459A>T (p.Glu153Asp) | |
17 | g.70175499T>A | CA400860645 | KCNJ2 | c.460T>A (p.Cys154Ser) | |
17 | g.70175499T>C | CA400860647 | KCNJ2 | c.460T>C (p.Cys154Arg) | |
17 | g.70175499T>G | CA400860646 | KCNJ2 | c.460T>G (p.Cys154Gly) | ClinVar dbSNP |
17 | g.70175500G>A | CA400860648 | KCNJ2 | c.461G>A (p.Cys154Tyr) | ClinVar dbSNP |
17 | g.70175500G>C | CA400860649 | KCNJ2 | c.461G>C (p.Cys154Ser) | |
17 | g.70175500G= | CA2272996584 | KCNJ2 | c.461G= (p.Cys154=) | |
17 | g.70175500G>T | CA329684 | KCNJ2 | c.461G>T (p.Cys154Phe) | ClinVar dbSNP |
17 | g.70175501C>A | CA400860650 | KCNJ2 | c.462C>A (p.Cys154Ter) | |
17 | g.70175501C= | CA2272996585 | KCNJ2 | c.462C= (p.Cys154=) | |
17 | g.70175501C>G | CA400860651 | KCNJ2 | c.462C>G (p.Cys154Trp) | |
17 | g.70175501C>T | CA501700694 | KCNJ2 | c.462C>T (p.Cys154=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175502C>A | CA400860652 | KCNJ2 | c.463C>A (p.Pro155Thr) | |
17 | g.70175502C= | CA2272996586 | KCNJ2 | c.463C= (p.Pro155=) | |
17 | g.70175502C>G | CA400860653 | KCNJ2 | c.463C>G (p.Pro155Ala) | |
17 | g.70175502C>T | CA400860654 | KCNJ2 | c.463C>T (p.Pro155Ser) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175503C>A | CA400860655 | KCNJ2 | c.464C>A (p.Pro155Gln) | |
17 | g.70175503C>G | CA400860656 | KCNJ2 | c.464C>G (p.Pro155Arg) | |
17 | g.70175503C>T | CA400860657 | KCNJ2 | c.464C>T (p.Pro155Leu) | |
17 | g.70175504A= | CA2272996587 | KCNJ2 | c.465A= (p.Pro155=) | |
17 | g.70175504A>C | CA501700699 | KCNJ2 | c.465A>C (p.Pro155=) | dbSNP |
17 | g.70175504A>G | CA8738732 | KCNJ2 | c.465A>G (p.Pro155=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |