Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20189386C>A | CA387461647 | GJB2 | c.196G>T (p.Asp66Tyr) | ClinVar dbSNP |
13 | g.20189386C= | CA2077140020 | GJB2 | c.196G= (p.Asp66=) | |
13 | g.20189386C>G | CA127024 | GJB2 | c.196G>C (p.Asp66His) | ClinVar dbSNP |
13 | g.20189386C>T | CA387461646 | GJB2 | c.196G>A (p.Asp66Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189387G>A | CA6904304 | GJB2 | c.195C>T (p.Tyr65=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189387G>C | CA387461648 | GJB2 | c.195C>G (p.Tyr65Ter) | ClinVar dbSNP gnomAD v4 |
13 | g.20189387G= | CA2077140027 | GJB2 | c.195C= (p.Tyr65=) | |
13 | g.20189387G>T | CA387461649 | GJB2 | c.195C>A (p.Tyr65Ter) | ClinVar dbSNP gnomAD v4 |
13 | g.20189388T>A | CA387461650 | GJB2 | c.194A>T (p.Tyr65Phe) | |
13 | g.20189388T>C | CA261639 | GJB2 | c.194A>G (p.Tyr65Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189388T>G | CA387461651 | GJB2 | c.194A>C (p.Tyr65Ser) | |
13 | g.20189388T= | CA2077140033 | GJB2 | c.194A= (p.Tyr65=) | |
13 | g.20189389A= | CA2077140037 | GJB2 | c.193T= (p.Tyr65=) | |
13 | g.20189389A>C | CA387461652 | GJB2 | c.193T>G (p.Tyr65Asp) | |
13 | g.20189389A>G | CA10586212 | GJB2 | c.193T>C (p.Tyr65His) | ClinVar dbSNP |
13 | g.20189389A>T | CA387461653 | GJB2 | c.193T>A (p.Tyr65Asn) | |
13 | g.20189390G>A | CA483153826 | GJB2 | c.192C>T (p.Cys64=) | |
13 | g.20189390G>C | CA387461654 | GJB2 | c.192C>G (p.Cys64Trp) | |
13 | g.20189390G>T | CA387461655 | GJB2 | c.192C>A (p.Cys64Ter) | |
13 | g.20189390_20189406delinsGCACACGTTCTTGCAGC | CA2077140040 | GJB2 | c.176_192delinsGCTGCAAGAACGTGTGC (p.Gly59=) | |
13 | g.20189391C>A | CA387461657 | GJB2 | c.191G>T (p.Cys64Phe) | |
13 | g.20189391C>G | CA387461658 | GJB2 | c.191G>C (p.Cys64Ser) | |
13 | g.20189391C>T | CA387461656 | GJB2 | c.191G>A (p.Cys64Tyr) | gnomAD v4 |
13 | g.20189392_20189407del | CA6904305 | GJB2 | c.176_191del (p.Gly59AlafsTer18) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189392A>C | CA387461659 | GJB2 | c.190T>G (p.Cys64Gly) | |
13 | g.20189392A>G | CA387461660 | GJB2 | c.190T>C (p.Cys64Arg) | |
13 | g.20189392A>T | CA387461661 | GJB2 | c.190T>A (p.Cys64Ser) | |
13 | g.20189393C>A | CA483153830 | GJB2 | c.189G>T (p.Val63=) | ClinVar dbSNP |
13 | g.20189393C= | CA2077140046 | GJB2 | c.189G= (p.Val63=) | |
13 | g.20189393C>G | CA483153828 | GJB2 | c.189G>C (p.Val63=) | |
13 | g.20189393C>T | CA483153829 | GJB2 | c.189G>A (p.Val63=) | |
13 | g.20189394A= | CA2077140050 | GJB2 | c.188T= (p.Val63=) | |
13 | g.20189394A>C | CA387461662 | GJB2 | c.188T>G (p.Val63Gly) | |
13 | g.20189394A>G | CA180700 | GJB2 | c.188T>C (p.Val63Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189394A>T | CA387461663 | GJB2 | c.188T>A (p.Val63Glu) | |
13 | g.20189395del | CA2695217716 | GJB2 | c.187del (p.Val63CysfsTer19) | |
13 | g.20189395C>A | CA6904306 | GJB2 | c.187G>T (p.Val63Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189395C= | CA2077140055 | GJB2 | c.187G= (p.Val63=) | |
13 | g.20189395C>G | CA387461664 | GJB2 | c.187G>C (p.Val63Leu) | |
13 | g.20189395C>T | CA222244 | GJB2 | c.187G>A (p.Val63Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189396G>A | CA134949 | GJB2 | c.186C>T (p.Asn62=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189396G>C | CA387461665 | GJB2 | c.186C>G (p.Asn62Lys) | |
13 | g.20189396G= | CA2077140061 | GJB2 | c.186C= (p.Asn62=) | |
13 | g.20189396G>T | CA387461666 | GJB2 | c.186C>A (p.Asn62Lys) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189397T>A | CA387461667 | GJB2 | c.185A>T (p.Asn62Ile) | |
13 | g.20189397T>C | CA387461668 | GJB2 | c.185A>G (p.Asn62Ser) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189397T>G | CA387461669 | GJB2 | c.185A>C (p.Asn62Thr) | |
13 | g.20189397T= | CA2077140069 | GJB2 | c.185A= (p.Asn62=) | |
13 | g.20189397_20189398insA | CA2695217717 | GJB2 | c.184_185insT (p.Asn62IlefsTer?) | |
13 | g.20189398T>A | CA387461671 | GJB2 | c.184A>T (p.Asn62Tyr) |