Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.75954007A= | CA1718163014 | POR | c.15A= (p.Gly5=) n.42A= c.6A= (p.Gly2=) | |
7 | g.75954007A>C | CA456079846 | POR | c.15A>C (p.Gly5=) n.42A>C c.6A>C (p.Gly2=) | |
7 | g.75954007A>G | CA257669 | POR | c.15A>G (p.Gly5=) n.42A>G c.6A>G (p.Gly2=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.75954007A>T | CA456079847 | POR | c.15A>T (p.Gly5=) n.42A>T c.6A>T (p.Gly2=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.75954008G>A | CA367737474 | POR | c.16G>A (p.Asp6Asn) n.43G>A c.7G>A (p.Asp3Asn) | |
7 | g.75954008G>C | CA367737475 | POR | c.16G>C (p.Asp6His) n.43G>C c.7G>C (p.Asp3His) | |
7 | g.75954008G>T | CA367737476 | POR | c.16G>T (p.Asp6Tyr) n.43G>T c.7G>T (p.Asp3Tyr) | |
7 | g.75954009A>C | CA367737477 | POR | c.17A>C (p.Asp6Ala) n.44A>C c.8A>C (p.Asp3Ala) | |
7 | g.75954009A>G | CA367737478 | POR | c.17A>G (p.Asp6Gly) n.44A>G c.8A>G (p.Asp3Gly) | |
7 | g.75954009A>T | CA367737482 | POR | c.17A>T (p.Asp6Val) n.44A>T c.8A>T (p.Asp3Val) | |
7 | g.75954010C>A | CA367737485 | POR | c.18C>A (p.Asp6Glu) n.45C>A c.9C>A (p.Asp3Glu) | |
7 | g.75954010C= | CA1718163020 | POR | c.18C= (p.Asp6=) n.45C= c.9C= (p.Asp3=) | |
7 | g.75954010C>G | CA367737486 | POR | c.18C>G (p.Asp6Glu) n.45C>G c.9C>G (p.Asp3Glu) | |
7 | g.75954010C>T | CA456079848 | POR | c.18C>T (p.Asp6=) n.45C>T c.9C>T (p.Asp3=) | dbSNP gnomAD v4 |
7 | g.75954011T>A | CA367737488 | POR | c.19T>A (p.Ser7Thr) n.46T>A c.10T>A (p.Ser4Thr) | |
7 | g.75954011T>C | CA367737489 | POR | c.19T>C (p.Ser7Pro) n.46T>C c.10T>C (p.Ser4Pro) | |
7 | g.75954011T>G | CA367737491 | POR | c.19T>G (p.Ser7Ala) n.46T>G c.10T>G (p.Ser4Ala) | |
7 | g.75954012C>A | CA367737509 | POR | c.20C>A (p.Ser7Tyr) n.47C>A c.11C>A (p.Ser4Tyr) | |
7 | g.75954012C>G | CA367737504 | POR | c.20C>G (p.Ser7Cys) n.47C>G c.11C>G (p.Ser4Cys) | |
7 | g.75954012C>T | CA367737494 | POR | c.20C>T (p.Ser7Phe) n.47C>T c.11C>T (p.Ser4Phe) | gnomAD v4 |
7 | g.75954014del | CA2683377148 | POR | c.22del (p.His8ThrfsTer21) n.49del c.13del (p.His5ThrfsTer21) | gnomAD v4 |
7 | g.75954013C>A | CA456079849 | POR | c.21C>A (p.Ser7=) n.48C>A c.12C>A (p.Ser4=) | |
7 | g.75954013C>G | CA456079852 | POR | c.21C>G (p.Ser7=) n.48C>G c.12C>G (p.Ser4=) | |
7 | g.75954013C>T | CA456079850 | POR | c.21C>T (p.Ser7=) n.48C>T c.12C>T (p.Ser4=) | COSMIC |
7 | g.75954014C>A | CA367737516 | POR | c.22C>A (p.His8Asn) n.49C>A c.13C>A (p.His5Asn) | gnomAD v4 |
7 | g.75954014C>G | CA367737520 | POR | c.22C>G (p.His8Asp) n.49C>G c.13C>G (p.His5Asp) | |
7 | g.75954014C>T | CA367737529 | POR | c.22C>T (p.His8Tyr) n.49C>T c.13C>T (p.His5Tyr) | |
7 | g.75954015A>C | CA367737546 | POR | c.23A>C (p.His8Pro) n.50A>C c.14A>C (p.His5Pro) | |
7 | g.75954015A>G | CA367737550 | POR | c.23A>G (p.His8Arg) n.50A>G c.14A>G (p.His5Arg) | |
7 | g.75954015A>T | CA367737552 | POR | c.23A>T (p.His8Leu) n.50A>T c.14A>T (p.His5Leu) | |
7 | g.75954016C>A | CA367737580 | POR | c.24C>A (p.His8Gln) n.51C>A c.15C>A (p.His5Gln) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.75954016C= | CA1718163022 | POR | c.24C= (p.His8=) n.51C= c.15C= (p.His5=) | |
7 | g.75954016C>G | CA367737571 | POR | c.24C>G (p.His8Gln) n.51C>G c.15C>G (p.His5Gln) | |
7 | g.75954016C>T | CA160922476 | POR | c.24C>T (p.His8=) n.51C>T c.15C>T (p.His5=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.75954017G>A | CA4303429 | POR | c.25G>A (p.Val9Met) n.52G>A c.16G>A (p.Val6Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.75954017G>C | CA367737591 | POR | c.25G>C (p.Val9Leu) n.52G>C c.16G>C (p.Val6Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.75954017G= | CA1718163027 | POR | c.25G= (p.Val9=) n.52G= c.16G= (p.Val6=) | |
7 | g.75954017G>T | CA367737592 | POR | c.25G>T (p.Val9Leu) n.52G>T c.16G>T (p.Val6Leu) | gnomAD v4 |
7 | g.75954018T>A | CA367737594 | POR | c.26T>A (p.Val9Glu) n.53T>A c.17T>A (p.Val6Glu) | |
7 | g.75954018T>C | CA367737596 | POR | c.26T>C (p.Val9Ala) n.53T>C c.17T>C (p.Val6Ala) | |
7 | g.75954018T>G | CA367737600 | POR | c.26T>G (p.Val9Gly) n.53T>G c.17T>G (p.Val6Gly) | |
7 | g.75954019G>A | CA456079853 | POR | c.27G>A (p.Val9=) n.54G>A c.18G>A (p.Val6=) | |
7 | g.75954019G>C | CA456079854 | POR | c.27G>C (p.Val9=) n.54G>C c.18G>C (p.Val6=) | |
7 | g.75954019G>T | CA456079855 | POR | c.27G>T (p.Val9=) n.54G>T c.18G>T (p.Val6=) | |
7 | g.75954020G>A | CA367737604 | POR | c.28G>A (p.Asp10Asn) n.55G>A c.19G>A (p.Asp7Asn) | dbSNP gnomAD v2 |
7 | g.75954020G>C | CA367737606 | POR | c.28G>C (p.Asp10His) n.55G>C c.19G>C (p.Asp7His) | |
7 | g.75954020G= | CA1718163031 | POR | c.28G= (p.Asp10=) n.55G= c.19G= (p.Asp7=) | |
7 | g.75954020G>T | CA367737605 | POR | c.28G>T (p.Asp10Tyr) n.55G>T c.19G>T (p.Asp7Tyr) | |
7 | g.75954021A>C | CA367737607 | POR | c.29A>C (p.Asp10Ala) n.56A>C c.20A>C (p.Asp7Ala) | |
7 | g.75954021A>G | CA367737612 | POR | c.29A>G (p.Asp10Gly) n.56A>G c.20A>G (p.Asp7Gly) |