| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20189053_20189069del | CA2695217656 | GJB2 | c.516_532del (p.Trp172CysfsTer?) | |
| 13 | g.20189060_20189073del | CA2695217657 | GJB2 | c.509_522del (p.Asn170ThrfsTer?) | |
| 13 | g.20189067_20189068delinsCA | CA2077138980 | GJB2 | c.514_515delinsTG (p.Trp172=) | |
| 13 | g.20189068del | CA16041593 | GJB2 | c.514del (p.Trp172GlyfsTer24) | ClinVar dbSNP |
| 13 | g.20189068A= | CA2077138987 | GJB2 | c.514T= (p.Trp172=) | |
| 13 | g.20189068A>C | CA387460995 | GJB2 | c.514T>G (p.Trp172Gly) | |
| 13 | g.20189068A>G | CA387460996 | GJB2 | c.514T>C (p.Trp172Arg) | |
| 13 | g.20189068A>T | CA6904247 | GJB2 | c.514T>A (p.Trp172Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189069G>A | CA483153887 | GJB2 | c.513C>T (p.Ala171=) | |
| 13 | g.20189069G>C | CA483153888 | GJB2 | c.513C>G (p.Ala171=) | ClinVar dbSNP |
| 13 | g.20189069G>T | CA483153889 | GJB2 | c.513C>A (p.Ala171=) | |
| 13 | g.20189069_20189070insCGTT | CA2695217659 | GJB2 | c.512_513insAACG (p.Trp172ThrfsTer?) | |
| 13 | g.20189070G>A | CA387460997 | GJB2 | c.512C>T (p.Ala171Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20189070G>C | CA387460998 | GJB2 | c.512C>G (p.Ala171Gly) | |
| 13 | g.20189070G= | CA2077138993 | GJB2 | c.512C= (p.Ala171=) | |
| 13 | g.20189070G>T | CA387460999 | GJB2 | c.512C>A (p.Ala171Asp) | |
| 13 | g.20189071_20189072del | CA2695217658 | GJB2 | c.511_512del (p.Ala171LeufsTer?) | |
| 13 | g.20189071C>A | CA387461000 | GJB2 | c.511G>T (p.Ala171Ser) | dbSNP gnomAD v4 |
| 13 | g.20189071C= | CA2077139003 | GJB2 | c.511G= (p.Ala171=) | |
| 13 | g.20189071C>G | CA387461001 | GJB2 | c.511G>C (p.Ala171Pro) | gnomAD v4 |
| 13 | g.20189071C>T | CA134985 | GJB2 | c.511G>A (p.Ala171Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189071_20189074dup | CA274346 | GJB2 | c.508_511dup (p.Ala171GlufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189072_20189081del | CA2695217660 | GJB2 | c.502_511del (p.Lys168ProfsTer25) | |
| 13 | g.20189072G>A | CA6904249 | GJB2 | c.510C>T (p.Asn170=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189072G>C | CA387461002 | GJB2 | c.510C>G (p.Asn170Lys) | |
| 13 | g.20189072G= | CA2077139009 | GJB2 | c.510C= (p.Asn170=) | |
| 13 | g.20189072G>T | CA6904250 | GJB2 | c.510C>A (p.Asn170Lys) | dbSNP ExAC |
| 13 | g.20189073T>A | CA387461003 | GJB2 | c.509A>T (p.Asn170Ile) | |
| 13 | g.20189073T>C | CA387461005 | GJB2 | c.509A>G (p.Asn170Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189073T>G | CA387461004 | GJB2 | c.509A>C (p.Asn170Thr) | |
| 13 | g.20189073T= | CA2077139016 | GJB2 | c.509A= (p.Asn170=) | |
| 13 | g.20189074dup | CA6904248 | GJB2 | c.509dup (p.Asn170LysfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189074T>A | CA387461006 | GJB2 | c.508A>T (p.Asn170Tyr) | |
| 13 | g.20189074T>C | CA387461007 | GJB2 | c.508A>G (p.Asn170Asp) | |
| 13 | g.20189074T>G | CA387461008 | GJB2 | c.508A>C (p.Asn170His) | |
| 13 | g.20189075G>A | CA483153895 | GJB2 | c.507C>T (p.Cys169=) | |
| 13 | g.20189075G>C | CA387461009 | GJB2 | c.507C>G (p.Cys169Trp) | gnomAD v4 |
| 13 | g.20189075G>T | CA387461010 | GJB2 | c.507C>A (p.Cys169Ter) | |
| 13 | g.20189076C>A | CA387461011 | GJB2 | c.506G>T (p.Cys169Phe) | |
| 13 | g.20189076C= | CA2077139020 | GJB2 | c.506G= (p.Cys169=) | |
| 13 | g.20189076C>G | CA387461012 | GJB2 | c.506G>C (p.Cys169Ser) | |
| 13 | g.20189076C>T | CA6904251 | GJB2 | c.506G>A (p.Cys169Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189077A= | CA2077139024 | GJB2 | c.505T= (p.Cys169=) | |
| 13 | g.20189077A>C | CA6904252 | GJB2 | c.505T>G (p.Cys169Gly) | dbSNP ExAC |
| 13 | g.20189077A>G | CA6904253 | GJB2 | c.505T>C (p.Cys169Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189077A>T | CA6904254 | GJB2 | c.505T>A (p.Cys169Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189078C>A | CA387461013 | GJB2 | c.504G>T (p.Lys168Asn) | gnomAD v4 |
| 13 | g.20189078C>G | CA387461014 | GJB2 | c.504G>C (p.Lys168Asn) | gnomAD v4 |
| 13 | g.20189078C>T | CA483153900 | GJB2 | c.504G>A (p.Lys168=) | ClinVar dbSNP |
| 13 | g.20189078_20189079insCTTC | CA2695217661 | GJB2 | c.504_505insAAGG (p.Cys169LysfsTer?) |