Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20222874T>A | CA387467648 | GJB6 | c.607A>T (p.Met203Leu) | |
13 | g.20222874T>C | CA136466 | GJB6 | c.607A>G (p.Met203Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20222874T>G | CA387467646 | GJB6 | c.607A>C (p.Met203Leu) | ClinVar |
13 | g.20222874T= | CA2077159588 | GJB6 | c.607A= (p.Met203=) | |
13 | g.20222875G>A | CA483154166 | GJB6 | c.606C>T (p.Cys202=) | dbSNP gnomAD v4 |
13 | g.20222875G>C | CA387467650 | GJB6 | c.606C>G (p.Cys202Trp) | |
13 | g.20222875G= | CA2077159591 | GJB6 | c.606C= (p.Cys202=) | |
13 | g.20222875G>T | CA387467652 | GJB6 | c.606C>A (p.Cys202Ter) | |
13 | g.20222876C>A | CA387467654 | GJB6 | c.605G>T (p.Cys202Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
13 | g.20222876C= | CA2077159593 | GJB6 | c.605G= (p.Cys202=) | |
13 | g.20222876C>G | CA387467655 | GJB6 | c.605G>C (p.Cys202Ser) | |
13 | g.20222876C>T | CA387467657 | GJB6 | c.605G>A (p.Cys202Tyr) | |
13 | g.20222877A= | CA2077159595 | GJB6 | c.604T= (p.Cys202=) | |
13 | g.20222877A>C | CA387467659 | GJB6 | c.604T>G (p.Cys202Gly) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.20222877A>G | CA246490627 | GJB6 | c.604T>C (p.Cys202Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20222877A>T | CA387467661 | GJB6 | c.604T>A (p.Cys202Ser) | |
13 | g.20222878A>C | CA387467663 | GJB6 | c.603T>G (p.Ile201Met) | gnomAD v4 |
13 | g.20222878A>G | CA483154167 | GJB6 | c.603T>C (p.Ile201=) | |
13 | g.20222878A>T | CA483154168 | GJB6 | c.603T>A (p.Ile201=) | |
13 | g.20222879A= | CA2077159600 | GJB6 | c.602T= (p.Ile201=) | |
13 | g.20222879A>C | CA387467665 | GJB6 | c.602T>G (p.Ile201Ser) | |
13 | g.20222879A>G | CA387467666 | GJB6 | c.602T>C (p.Ile201Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20222879A>T | CA387467668 | GJB6 | c.602T>A (p.Ile201Asn) | |
13 | g.20222880T>A | CA387467669 | GJB6 | c.601A>T (p.Ile201Phe) | |
13 | g.20222880T>C | CA387467671 | GJB6 | c.601A>G (p.Ile201Val) | gnomAD v4 |
13 | g.20222880T>G | CA387467670 | GJB6 | c.601A>C (p.Ile201Leu) | |
13 | g.20222881C>A | CA483154169 | GJB6 | c.600G>T (p.Val200=) | |
13 | g.20222881C>G | CA483154170 | GJB6 | c.600G>C (p.Val200=) | |
13 | g.20222881C>T | CA483154171 | GJB6 | c.600G>A (p.Val200=) | gnomAD v4 |
13 | g.20222882A= | CA2077159602 | GJB6 | c.599T= (p.Val200=) | |
13 | g.20222882A>C | CA387467674 | GJB6 | c.599T>G (p.Val200Gly) | |
13 | g.20222882A>G | CA387467677 | GJB6 | c.599T>C (p.Val200Ala) | |
13 | g.20222882A>T | CA387467675 | GJB6 | c.599T>A (p.Val200Glu) | dbSNP |
13 | g.20222883C>A | CA387467678 | GJB6 | c.598G>T (p.Val200Leu) | |
13 | g.20222883C>G | CA387467681 | GJB6 | c.598G>C (p.Val200Leu) | |
13 | g.20222883C>T | CA387467679 | GJB6 | c.598G>A (p.Val200Met) | |
13 | g.20222884A>C | CA483154172 | GJB6 | c.597T>G (p.Ser199=) | |
13 | g.20222884A>G | CA483154173 | GJB6 | c.597T>C (p.Ser199=) | |
13 | g.20222884A>T | CA483154174 | GJB6 | c.597T>A (p.Ser199=) | |
13 | g.20222885G>A | CA387467683 | GJB6 | c.596C>T (p.Ser199Phe) | |
13 | g.20222885G>C | CA387467686 | GJB6 | c.596C>G (p.Ser199Cys) | |
13 | g.20222885G>T | CA387467685 | GJB6 | c.596C>A (p.Ser199Tyr) | COSMIC |
13 | g.20222886A= | CA2077159605 | GJB6 | c.595T= (p.Ser199=) | |
13 | g.20222886A>C | CA387467688 | GJB6 | c.595T>G (p.Ser199Ala) | |
13 | g.20222886A>G | CA387467690 | GJB6 | c.595T>C (p.Ser199Pro) | |
13 | g.20222886A>T | CA136463 | GJB6 | c.595T>A (p.Ser199Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20222887C>A | CA483154175 | GJB6 | c.594G>T (p.Ala198=) | gnomAD v3 gnomAD v4 |
13 | g.20222887C= | CA2077159607 | GJB6 | c.594G= (p.Ala198=) | |
13 | g.20222887C>G | CA483154176 | GJB6 | c.594G>C (p.Ala198=) | gnomAD v4 |
13 | g.20222887C>T | CA6904409 | GJB6 | c.594G>A (p.Ala198=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |