Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20223221G>A | CA387468494 | GJB6 | c.260C>T (p.Pro87Leu) | |
13 | g.20223221G>C | CA387468495 | GJB6 | c.260C>G (p.Pro87Arg) | |
13 | g.20223221G>T | CA387468496 | GJB6 | c.260C>A (p.Pro87Gln) | |
13 | g.20223222G>A | CA387468497 | GJB6 | c.259C>T (p.Pro87Ser) | gnomAD v4 |
13 | g.20223222G>C | CA387468498 | GJB6 | c.259C>G (p.Pro87Ala) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.20223222G= | CA2077160222 | GJB6 | c.259C= (p.Pro87=) | |
13 | g.20223222G>T | CA387468499 | GJB6 | c.259C>A (p.Pro87Thr) | |
13 | g.20223223G>A | CA483154436 | GJB6 | c.258C>T (p.Thr86=) | |
13 | g.20223223G>C | CA483154437 | GJB6 | c.258C>G (p.Thr86=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20223223G= | CA2077160228 | GJB6 | c.258C= (p.Thr86=) | |
13 | g.20223223G>T | CA483154438 | GJB6 | c.258C>A (p.Thr86=) | COSMIC |
13 | g.20223224G>A | CA387468502 | GJB6 | c.257C>T (p.Thr86Ile) | dbSNP |
13 | g.20223224G>C | CA387468501 | GJB6 | c.257C>G (p.Thr86Ser) | |
13 | g.20223224G= | CA2077160231 | GJB6 | c.257C= (p.Thr86=) | |
13 | g.20223224G>T | CA387468500 | GJB6 | c.257C>A (p.Thr86Asn) | gnomAD v4 |
13 | g.20223225T>A | CA387468503 | GJB6 | c.256A>T (p.Thr86Ser) | |
13 | g.20223225T>C | CA387468504 | GJB6 | c.256A>G (p.Thr86Ala) | |
13 | g.20223225T>G | CA387468505 | GJB6 | c.256A>C (p.Thr86Pro) | |
13 | g.20223226G>A | CA483154443 | GJB6 | c.255C>T (p.Ser85=) | |
13 | g.20223226G>C | CA483154444 | GJB6 | c.255C>G (p.Ser85=) | |
13 | g.20223226G>T | CA483154445 | GJB6 | c.255C>A (p.Ser85=) | |
13 | g.20223227G>A | CA387468506 | GJB6 | c.254C>T (p.Ser85Phe) | |
13 | g.20223227G>C | CA387468507 | GJB6 | c.254C>G (p.Ser85Cys) | |
13 | g.20223227G>T | CA387468508 | GJB6 | c.254C>A (p.Ser85Tyr) | |
13 | g.20223228A>C | CA387468509 | GJB6 | c.253T>G (p.Ser85Ala) | |
13 | g.20223228A>G | CA387468511 | GJB6 | c.253T>C (p.Ser85Pro) | |
13 | g.20223228A>T | CA387468510 | GJB6 | c.253T>A (p.Ser85Thr) | |
13 | g.20223229G>A | CA483154450 | GJB6 | c.252C>T (p.Val84=) | gnomAD v4 |
13 | g.20223229G>C | CA483154451 | GJB6 | c.252C>G (p.Val84=) | |
13 | g.20223229G>T | CA483154452 | GJB6 | c.252C>A (p.Val84=) | |
13 | g.20223230A>C | CA387468512 | GJB6 | c.251T>G (p.Val84Gly) | |
13 | g.20223230A>G | CA387468513 | GJB6 | c.251T>C (p.Val84Ala) | gnomAD v4 |
13 | g.20223230A>T | CA387468514 | GJB6 | c.251T>A (p.Val84Asp) | |
13 | g.20223231C>A | CA387468515 | GJB6 | c.250G>T (p.Val84Phe) | |
13 | g.20223231C= | CA2077160235 | GJB6 | c.250G= (p.Val84=) | |
13 | g.20223231C>G | CA387468516 | GJB6 | c.250G>C (p.Val84Leu) | |
13 | g.20223231C>T | CA246491012 | GJB6 | c.250G>A (p.Val84Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.20223232G>A | CA6904484 | GJB6 | c.249C>T (p.Phe83=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.20223232G>C | CA387468517 | GJB6 | c.249C>G (p.Phe83Leu) | |
13 | g.20223232G= | CA2077160238 | GJB6 | c.249C= (p.Phe83=) | |
13 | g.20223232G>T | CA387468518 | GJB6 | c.249C>A (p.Phe83Leu) | |
13 | g.20223233A>C | CA387468519 | GJB6 | c.248T>G (p.Phe83Cys) | gnomAD v4 |
13 | g.20223233A>G | CA387468520 | GJB6 | c.248T>C (p.Phe83Ser) | |
13 | g.20223233A>T | CA387468521 | GJB6 | c.248T>A (p.Phe83Tyr) | |
13 | g.20223234A>C | CA387468522 | GJB6 | c.247T>G (p.Phe83Val) | |
13 | g.20223234A>G | CA387468524 | GJB6 | c.247T>C (p.Phe83Leu) | gnomAD v4 |
13 | g.20223234A>T | CA387468523 | GJB6 | c.247T>A (p.Phe83Ile) | |
13 | g.20223235G>A | CA483154454 | GJB6 | c.246C>T (p.Ile82=) | COSMIC |
13 | g.20223235G>C | CA387468525 | GJB6 | c.246C>G (p.Ile82Met) | |
13 | g.20223235G= | CA2077160241 | GJB6 | c.246C= (p.Ile82=) |