Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20189471_20189473del | CA1139663003 | GJB2 | c.111_113del (p.Val38del) | ClinVar dbSNP |
13 | g.20189473C>A | CA273605 | GJB2 | c.109G>T (p.Val37Phe) | ClinVar dbSNP |
13 | g.20189473C= | CA2077140354 | GJB2 | c.109G= (p.Val37=) | |
13 | g.20189473C>G | CA387461942 | GJB2 | c.109G>C (p.Val37Leu) | |
13 | g.20189473C>T | CA172210 | GJB2 | c.109G>A (p.Val37Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189473dup | CA2695217725 | GJB2 | c.109dup (p.Val37GlyfsTer11) | |
13 | g.20189474G>A | CA6904318 | GJB2 | c.108C>T (p.Leu36=) | ClinVar dbSNP ExAC gnomAD v4 |
13 | g.20189474G>C | CA246460895 | GJB2 | c.108C>G (p.Leu36=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189474G= | CA2077140363 | GJB2 | c.108C= (p.Leu36=) | |
13 | g.20189474G>T | CA483153905 | GJB2 | c.108C>A (p.Leu36=) | gnomAD v4 |
13 | g.20189475A= | CA2077140370 | GJB2 | c.107T= (p.Leu36=) | |
13 | g.20189475A>C | CA387461945 | GJB2 | c.107T>G (p.Leu36Arg) | |
13 | g.20189475A>G | CA172208 | GJB2 | c.107T>C (p.Leu36Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189475A>T | CA387461947 | GJB2 | c.107T>A (p.Leu36His) | |
13 | g.20189476G>A | CA387461950 | GJB2 | c.106C>T (p.Leu36Phe) | COSMIC |
13 | g.20189476G>C | CA387461952 | GJB2 | c.106C>G (p.Leu36Val) | |
13 | g.20189476G>T | CA387461953 | GJB2 | c.106C>A (p.Leu36Ile) | |
13 | g.20189476_20189505dup | CA222248 | GJB2 | c.77_106dup (p.Ile35_Leu36insProValLeuPheIlePheArgIleMetIle) | ClinVar dbSNP |
13 | g.20189477G>A | CA483153910 | GJB2 | c.105C>T (p.Ile35=) | |
13 | g.20189477G>C | CA387461955 | GJB2 | c.105C>G (p.Ile35Met) | |
13 | g.20189477G>T | CA483153911 | GJB2 | c.105C>A (p.Ile35=) | |
13 | g.20189477_20189483delinsGATCATA | CA2077140383 | GJB2 | c.99_105delinsTATGATC (p.Ile33=) | |
13 | g.20189478A= | CA2077140387 | GJB2 | c.104T= (p.Ile35=) | |
13 | g.20189478A>C | CA6904320 | GJB2 | c.104T>G (p.Ile35Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189478A>G | CA387461957 | GJB2 | c.104T>C (p.Ile35Thr) | |
13 | g.20189478A>T | CA387461959 | GJB2 | c.104T>A (p.Ile35Asn) | |
13 | g.20189480_20189485del | CA6904319 | GJB2 | c.99_104del (p.Met34_Ile35del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189479T>A | CA387461961 | GJB2 | c.103A>T (p.Ile35Phe) | |
13 | g.20189479T>C | CA387461963 | GJB2 | c.103A>G (p.Ile35Val) | |
13 | g.20189479T>G | CA387461964 | GJB2 | c.103A>C (p.Ile35Leu) | |
13 | g.20189480C>A | CA387461966 | GJB2 | c.102G>T (p.Met34Ile) | |
13 | g.20189480C>G | CA387461968 | GJB2 | c.102G>C (p.Met34Ile) | |
13 | g.20189480C>T | CA387461969 | GJB2 | c.102G>A (p.Met34Ile) | |
13 | g.20189481A= | CA2077140396 | GJB2 | c.101T= (p.Met34=) | |
13 | g.20189481A>C | CA261633 | GJB2 | c.101T>G (p.Met34Arg) | ClinVar dbSNP |
13 | g.20189481A>G | CA172206 | GJB2 | c.101T>C (p.Met34Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189481A>T | CA387461971 | GJB2 | c.101T>A (p.Met34Lys) | |
13 | g.20189482T>A | CA6904321 | GJB2 | c.100A>T (p.Met34Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189482T>C | CA387461975 | GJB2 | c.100A>G (p.Met34Val) | |
13 | g.20189482T>G | CA387461977 | GJB2 | c.100A>C (p.Met34Leu) | |
13 | g.20189482T= | CA2077140404 | GJB2 | c.100A= (p.Met34=) | |
13 | g.20189482_20189483delinsTA | CA2077140405 | GJB2 | c.99_100delinsTA (p.Ile33=) | |
13 | g.20189483A>C | CA387461978 | GJB2 | c.99T>G (p.Ile33Met) | |
13 | g.20189483A>G | CA483153918 | GJB2 | c.99T>C (p.Ile33=) | |
13 | g.20189483A>T | CA483153919 | GJB2 | c.99T>A (p.Ile33=) | gnomAD v4 |
13 | g.20189484del | CA608984158 | GJB2 | c.99del (p.Met34Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189484A= | CA2077140410 | GJB2 | c.98T= (p.Ile33=) | |
13 | g.20189484A>C | CA387461981 | GJB2 | c.98T>G (p.Ile33Ser) | |
13 | g.20189484A>G | CA246460935 | GJB2 | c.98T>C (p.Ile33Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189484A>T | CA387461986 | GJB2 | c.98T>A (p.Ile33Asn) |