Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20189048_20189059delinsCACAGTGTTGGG | CA2077138937 | GJB2 | c.523_534delinsCCCAACACTGTG (p.Pro175=) | |
13 | g.20189052_20189062del | CA10576936 | GJB2 | c.523_533del (p.Pro175GlyfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189053_20189069del | CA2695217656 | GJB2 | c.516_532del (p.Trp172CysfsTer?) | |
13 | g.20189056T>A | CA387460967 | GJB2 | c.526A>T (p.Asn176Tyr) | |
13 | g.20189056T>C | CA6904245 | GJB2 | c.526A>G (p.Asn176Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189056T>G | CA387460968 | GJB2 | c.526A>C (p.Asn176His) | |
13 | g.20189056T= | CA2077138951 | GJB2 | c.526A= (p.Asn176=) | |
13 | g.20189057G>A | CA483153876 | GJB2 | c.525C>T (p.Pro175=) | |
13 | g.20189057G>C | CA483153875 | GJB2 | c.525C>G (p.Pro175=) | |
13 | g.20189057G= | CA2077138953 | GJB2 | c.525C= (p.Pro175=) | |
13 | g.20189057G>T | CA6904246 | GJB2 | c.525C>A (p.Pro175=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189058G>A | CA387460969 | GJB2 | c.524C>T (p.Pro175Leu) | |
13 | g.20189058G>C | CA387460970 | GJB2 | c.524C>G (p.Pro175Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.20189058G>T | CA387460971 | GJB2 | c.524C>A (p.Pro175His) | |
13 | g.20189059G>A | CA387460972 | GJB2 | c.523C>T (p.Pro175Ser) | |
13 | g.20189059G>C | CA387460973 | GJB2 | c.523C>G (p.Pro175Ala) | |
13 | g.20189059G>T | CA387460974 | GJB2 | c.523C>A (p.Pro175Thr) | |
13 | g.20189060A>C | CA387460975 | GJB2 | c.522T>G (p.Cys174Trp) | |
13 | g.20189060A>G | CA483153879 | GJB2 | c.522T>C (p.Cys174=) | ClinVar dbSNP gnomAD v4 |
13 | g.20189060A>T | CA387460976 | GJB2 | c.522T>A (p.Cys174Ter) | |
13 | g.20189060_20189073del | CA2695217657 | GJB2 | c.509_522del (p.Asn170ThrfsTer?) | |
13 | g.20189061C>A | CA387460979 | GJB2 | c.521G>T (p.Cys174Phe) | |
13 | g.20189061C>G | CA387460977 | GJB2 | c.521G>C (p.Cys174Ser) | |
13 | g.20189061C>T | CA387460978 | GJB2 | c.521G>A (p.Cys174Tyr) | |
13 | g.20189062A>C | CA387460980 | GJB2 | c.520T>G (p.Cys174Gly) | |
13 | g.20189062A>G | CA387460981 | GJB2 | c.520T>C (p.Cys174Arg) | |
13 | g.20189062A>T | CA387460982 | GJB2 | c.520T>A (p.Cys174Ser) | |
13 | g.20189063A= | CA2077138957 | GJB2 | c.519T= (p.Pro173=) | |
13 | g.20189063A>C | CA483153880 | GJB2 | c.519T>G (p.Pro173=) | |
13 | g.20189063A>G | CA483153881 | GJB2 | c.519T>C (p.Pro173=) | dbSNP |
13 | g.20189063A>T | CA483153882 | GJB2 | c.519T>A (p.Pro173=) | |
13 | g.20189064G>A | CA387460983 | GJB2 | c.518C>T (p.Pro173Leu) | ClinVar dbSNP COSMIC |
13 | g.20189064G>C | CA387460984 | GJB2 | c.518C>G (p.Pro173Arg) | ClinVar |
13 | g.20189064G= | CA2077138963 | GJB2 | c.518C= (p.Pro173=) | |
13 | g.20189064G>T | CA387460985 | GJB2 | c.518C>A (p.Pro173His) | |
13 | g.20189065G>A | CA387460986 | GJB2 | c.517C>T (p.Pro173Ser) | ClinVar dbSNP |
13 | g.20189065G>C | CA387460987 | GJB2 | c.517C>G (p.Pro173Ala) | |
13 | g.20189065G= | CA2077138968 | GJB2 | c.517C= (p.Pro173=) | |
13 | g.20189065G>T | CA387460988 | GJB2 | c.517C>A (p.Pro173Thr) | |
13 | g.20189066C>A | CA387460989 | GJB2 | c.516G>T (p.Trp172Cys) | |
13 | g.20189066C= | CA2077138974 | GJB2 | c.516G= (p.Trp172=) | |
13 | g.20189066C>G | CA387460990 | GJB2 | c.516G>C (p.Trp172Cys) | ClinVar dbSNP |
13 | g.20189066C>T | CA387460991 | GJB2 | c.516G>A (p.Trp172Ter) | ClinVar dbSNP gnomAD v4 |
13 | g.20189067C>A | CA387460994 | GJB2 | c.515G>T (p.Trp172Leu) | |
13 | g.20189067C>G | CA387460993 | GJB2 | c.515G>C (p.Trp172Ser) | |
13 | g.20189067C>T | CA387460992 | GJB2 | c.515G>A (p.Trp172Ter) | |
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) |