Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20189315_20189336del | CA2622252297 | GJB2 | c.248_269del (p.Phe83Ter) | gnomAD v4 |
13 | g.20189322G>A | CA387461520 | GJB2 | c.260C>T (p.Pro87Leu) | ClinVar dbSNP |
13 | g.20189322G>C | CA387461521 | GJB2 | c.260C>G (p.Pro87Arg) | |
13 | g.20189322G= | CA2077139733 | GJB2 | c.260C= (p.Pro87=) | |
13 | g.20189322G>T | CA387461522 | GJB2 | c.260C>A (p.Pro87Gln) | |
13 | g.20189323_20189325del | CA2695217712 | GJB2 | c.258_260del (p.Pro87del) | |
13 | g.20189323G>A | CA387461523 | GJB2 | c.259C>T (p.Pro87Ser) | |
13 | g.20189323G>C | CA387461524 | GJB2 | c.259C>G (p.Pro87Ala) | |
13 | g.20189323G>T | CA387461525 | GJB2 | c.259C>A (p.Pro87Thr) | |
13 | g.20189324_20189325del | CA912980096 | GJB2 | c.258_259del (p.Pro87SerfsTer14) | |
13 | g.20189324C>A | CA246460540 | GJB2 | c.258G>T (p.Thr86=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189324C= | CA2077139735 | GJB2 | c.258G= (p.Thr86=) | |
13 | g.20189324C>G | CA483153773 | GJB2 | c.258G>C (p.Thr86=) | |
13 | g.20189324C>T | CA6904296 | GJB2 | c.258G>A (p.Thr86=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189324_20189325delinsCG | CA2077139737 | GJB2 | c.257_258delinsCG (p.Thr86=) | |
13 | g.20189325del | CA658823467 | GJB2 | c.257del (p.Thr86SerfsTer5) | ClinVar dbSNP |
13 | g.20189325G>A | CA387461528 | GJB2 | c.257C>T (p.Thr86Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189325G>C | CA387461527 | GJB2 | c.257C>G (p.Thr86Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189325G= | CA2077139745 | GJB2 | c.257C= (p.Thr86=) | |
13 | g.20189325G>T | CA387461526 | GJB2 | c.257C>A (p.Thr86Lys) | |
13 | g.20189326T>A | CA387461529 | GJB2 | c.256A>T (p.Thr86Ser) | |
13 | g.20189326T>C | CA387461530 | GJB2 | c.256A>G (p.Thr86Ala) | ClinVar |
13 | g.20189326T>G | CA387461531 | GJB2 | c.256A>C (p.Thr86Pro) | |
13 | g.20189327G>A | CA483153774 | GJB2 | c.255C>T (p.Ser85=) | ClinVar |
13 | g.20189327G>C | CA483153775 | GJB2 | c.255C>G (p.Ser85=) | |
13 | g.20189327G>T | CA483153776 | GJB2 | c.255C>A (p.Ser85=) | |
13 | g.20189328G>A | CA387461532 | GJB2 | c.254C>T (p.Ser85Phe) | COSMIC |
13 | g.20189328G>C | CA387461533 | GJB2 | c.254C>G (p.Ser85Cys) | |
13 | g.20189328G>T | CA387461534 | GJB2 | c.254C>A (p.Ser85Tyr) | |
13 | g.20189329A>C | CA387461535 | GJB2 | c.253T>G (p.Ser85Ala) | gnomAD v4 |
13 | g.20189329A>G | CA387461536 | GJB2 | c.253T>C (p.Ser85Pro) | gnomAD v4 |
13 | g.20189329A>T | CA387461537 | GJB2 | c.253T>A (p.Ser85Thr) | gnomAD v4 |
13 | g.20189330C>A | CA483153777 | GJB2 | c.252G>T (p.Val84=) | |
13 | g.20189330C>G | CA483153778 | GJB2 | c.252G>C (p.Val84=) | |
13 | g.20189330C>T | CA483153779 | GJB2 | c.252G>A (p.Val84=) | ClinVar |
13 | g.20189331A>C | CA387461538 | GJB2 | c.251T>G (p.Val84Gly) | |
13 | g.20189331A>G | CA387461539 | GJB2 | c.251T>C (p.Val84Ala) | ClinVar gnomAD v4 |
13 | g.20189331A>T | CA387461540 | GJB2 | c.251T>A (p.Val84Glu) | |
13 | g.20189332C>A | CA234087 | GJB2 | c.250G>T (p.Val84Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189332C= | CA2077139759 | GJB2 | c.250G= (p.Val84=) | |
13 | g.20189332C>G | CA172218 | GJB2 | c.250G>C (p.Val84Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189332C>T | CA257683 | GJB2 | c.250G>A (p.Val84Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189333G>A | CA6904297 | GJB2 | c.249C>T (p.Phe83=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
13 | g.20189333G>C | CA134955 | GJB2 | c.249C>G (p.Phe83Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189333G= | CA2077139768 | GJB2 | c.249C= (p.Phe83=) | |
13 | g.20189333G>T | CA387461541 | GJB2 | c.249C>A (p.Phe83Leu) | |
13 | g.20189335_20189337del | CA2573053787 | GJB2 | c.247_249del (p.Phe83del) | ClinVar dbSNP |
13 | g.20189334A>C | CA387461542 | GJB2 | c.248T>G (p.Phe83Cys) | |
13 | g.20189334A>G | CA387461543 | GJB2 | c.248T>C (p.Phe83Ser) | |
13 | g.20189334A>T | CA387461544 | GJB2 | c.248T>A (p.Phe83Tyr) |