Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20189047C>A | CA6904242 | GJB2 | c.535G>T (p.Asp179Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189047C= | CA2077138930 | GJB2 | c.535G= (p.Asp179=) | |
13 | g.20189047C>G | CA387460951 | GJB2 | c.535G>C (p.Asp179His) | ClinVar dbSNP gnomAD v4 |
13 | g.20189047C>T | CA257681 | GJB2 | c.535G>A (p.Asp179Asn) | ClinVar dbSNP |
13 | g.20189048del | CA2622252279 | GJB2 | c.535del (p.Asp179ThrfsTer17) | gnomAD v4 |
13 | g.20189048C>A | CA483153862 | GJB2 | c.534G>T (p.Val178=) | |
13 | g.20189048C= | CA2077138936 | GJB2 | c.534G= (p.Val178=) | |
13 | g.20189048C>G | CA483153863 | GJB2 | c.534G>C (p.Val178=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189048C>T | CA483153864 | GJB2 | c.534G>A (p.Val178=) | |
13 | g.20189048_20189059delinsCACAGTGTTGGG | CA2077138937 | GJB2 | c.523_534delinsCCCAACACTGTG (p.Pro175=) | |
13 | g.20189049A= | CA2077138941 | GJB2 | c.533T= (p.Val178=) | |
13 | g.20189049A>C | CA387460953 | GJB2 | c.533T>G (p.Val178Gly) | |
13 | g.20189049A>G | CA6904243 | GJB2 | c.533T>C (p.Val178Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189049A>T | CA387460952 | GJB2 | c.533T>A (p.Val178Glu) | |
13 | g.20189052_20189062del | CA10576936 | GJB2 | c.523_533del (p.Pro175GlyfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189050C>A | CA387460954 | GJB2 | c.532G>T (p.Val178Leu) | ClinVar dbSNP |
13 | g.20189050C= | CA2077138942 | GJB2 | c.532G= (p.Val178=) | |
13 | g.20189050C>G | CA387460955 | GJB2 | c.532G>C (p.Val178Leu) | |
13 | g.20189050C>T | CA387460956 | GJB2 | c.532G>A (p.Val178Met) | dbSNP COSMIC |
13 | g.20189053_20189069del | CA2695217656 | GJB2 | c.516_532del (p.Trp172CysfsTer?) | |
13 | g.20189051A= | CA2077138944 | GJB2 | c.531T= (p.Thr177=) | |
13 | g.20189051A>C | CA483153869 | GJB2 | c.531T>G (p.Thr177=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189051A>G | CA483153870 | GJB2 | c.531T>C (p.Thr177=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189051A>T | CA483153871 | GJB2 | c.531T>A (p.Thr177=) | gnomAD v4 |
13 | g.20189052G>A | CA387460957 | GJB2 | c.530C>T (p.Thr177Ile) | gnomAD v4 |
13 | g.20189052G>C | CA387460958 | GJB2 | c.530C>G (p.Thr177Ser) | |
13 | g.20189052G>T | CA387460959 | GJB2 | c.530C>A (p.Thr177Asn) | |
13 | g.20189053T>A | CA387460960 | GJB2 | c.529A>T (p.Thr177Ser) | |
13 | g.20189053T>C | CA6904244 | GJB2 | c.529A>G (p.Thr177Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189053T>G | CA387460961 | GJB2 | c.529A>C (p.Thr177Pro) | |
13 | g.20189053T= | CA2077138947 | GJB2 | c.529A= (p.Thr177=) | |
13 | g.20189054G>A | CA483153873 | GJB2 | c.528C>T (p.Asn176=) | gnomAD v4 |
13 | g.20189054G>C | CA387460962 | GJB2 | c.528C>G (p.Asn176Lys) | |
13 | g.20189054G>T | CA387460963 | GJB2 | c.528C>A (p.Asn176Lys) | ClinVar |
13 | g.20189055T>A | CA387460965 | GJB2 | c.527A>T (p.Asn176Ile) | |
13 | g.20189055T>C | CA387460966 | GJB2 | c.527A>G (p.Asn176Ser) | ClinVar dbSNP gnomAD v4 |
13 | g.20189055T>G | CA387460964 | GJB2 | c.527A>C (p.Asn176Thr) | |
13 | g.20189055T= | CA2077138948 | GJB2 | c.527A= (p.Asn176=) | |
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) |