| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20188978_20189023dup | CA913191089 | GJB2 | c.560_605dup (p.Cys202Ter) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20189008_20189009del | CA16041592 | GJB2 | c.575_576del (p.Thr192SerfsTer17) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20189008T>A | CA387460869 | GJB2 | c.574A>T (p.Thr192Ser) | dbSNP |
| 13 | g.20189008T>C | CA387460870 | GJB2 | c.574A>G (p.Thr192Ala) | |
| 13 | g.20189008T>G | CA387460871 | GJB2 | c.574A>C (p.Thr192Pro) | |
| 13 | g.20189009G>A | CA483153818 | GJB2 | c.573C>T (p.Phe191=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.20189009G>C | CA387460872 | GJB2 | c.573C>G (p.Phe191Leu) | |
| 13 | g.20189009G= | CA2077138830 | GJB2 | c.573C= (p.Phe191=) | |
| 13 | g.20189009G>T | CA387460873 | GJB2 | c.573C>A (p.Phe191Leu) | |
| 13 | g.20189010A>C | CA387460874 | GJB2 | c.572T>G (p.Phe191Cys) | |
| 13 | g.20189010A>G | CA387460875 | GJB2 | c.572T>C (p.Phe191Ser) | |
| 13 | g.20189010A>T | CA387460876 | GJB2 | c.572T>A (p.Phe191Tyr) | |
| 13 | g.20189011del | CA2695217654 | GJB2 | c.572del (p.Phe191SerfsTer5) | |
| 13 | g.20189011A= | CA2077138836 | GJB2 | c.571T= (p.Phe191=) | |
| 13 | g.20189011A>C | CA387460877 | GJB2 | c.571T>G (p.Phe191Val) | |
| 13 | g.20189011A>G | CA134989 | GJB2 | c.571T>C (p.Phe191Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189011A>T | CA387460878 | GJB2 | c.571T>A (p.Phe191Ile) | |
| 13 | g.20189013_20189016del | CA2622252268 | GJB2 | c.568_571del (p.Val190SerfsTer5) | ClinVar gnomAD v4 |
| 13 | g.20189012G>A | CA483153821 | GJB2 | c.570C>T (p.Val190=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20189012G>C | CA483153822 | GJB2 | c.570C>G (p.Val190=) | |
| 13 | g.20189012G= | CA2077138838 | GJB2 | c.570C= (p.Val190=) | |
| 13 | g.20189012G>T | CA483153823 | GJB2 | c.570C>A (p.Val190=) | |
| 13 | g.20189013A= | CA2077138843 | GJB2 | c.569T= (p.Val190=) | |
| 13 | g.20189013A>C | CA387460881 | GJB2 | c.569T>G (p.Val190Gly) | |
| 13 | g.20189013A>G | CA387460880 | GJB2 | c.569T>C (p.Val190Ala) | |
| 13 | g.20189013A>T | CA387460879 | GJB2 | c.569T>A (p.Val190Asp) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20189014C>A | CA387460882 | GJB2 | c.568G>T (p.Val190Phe) | |
| 13 | g.20189014C>G | CA387460883 | GJB2 | c.568G>C (p.Val190Leu) | |
| 13 | g.20189014C>T | CA387460884 | GJB2 | c.568G>A (p.Val190Ile) | |
| 13 | g.20189015A= | CA2077138852 | GJB2 | c.567T= (p.Thr189=) | |
| 13 | g.20189015A>C | CA246459834 | GJB2 | c.567T>G (p.Thr189=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20189015A>G | CA483153824 | GJB2 | c.567T>C (p.Thr189=) | ClinVar |
| 13 | g.20189015A>T | CA483153825 | GJB2 | c.567T>A (p.Thr189=) | dbSNP |
| 13 | g.20189016G>A | CA387460885 | GJB2 | c.566C>T (p.Thr189Ile) | |
| 13 | g.20189016G>C | CA387460886 | GJB2 | c.566C>G (p.Thr189Ser) | dbSNP gnomAD v4 |
| 13 | g.20189016G= | CA2077138856 | GJB2 | c.566C= (p.Thr189=) | |
| 13 | g.20189016G>T | CA134987 | GJB2 | c.566C>A (p.Thr189Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20189016_20189018delinsGTC | CA2077138861 | GJB2 | c.564_566delinsGAC (p.Lys188=) | |
| 13 | g.20189017T>A | CA387460889 | GJB2 | c.565A>T (p.Thr189Ser) | |
| 13 | g.20189017T>C | CA387460888 | GJB2 | c.565A>G (p.Thr189Ala) | gnomAD v4 |
| 13 | g.20189017T>G | CA387460887 | GJB2 | c.565A>C (p.Thr189Pro) | |
| 13 | g.20189018_20189019del | CA6904235 | GJB2 | c.564_565del (p.Lys188AsnfsTer21) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189018C>A | CA387460890 | GJB2 | c.564G>T (p.Lys188Asn) | |
| 13 | g.20189018C>G | CA387460891 | GJB2 | c.564G>C (p.Lys188Asn) | |
| 13 | g.20189018C>T | CA483153827 | GJB2 | c.564G>A (p.Lys188=) | |
| 13 | g.20189019T>A | CA387460892 | GJB2 | c.563A>T (p.Lys188Met) | |
| 13 | g.20189019T>C | CA387460893 | GJB2 | c.563A>G (p.Lys188Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189019T>G | CA387460894 | GJB2 | c.563A>C (p.Lys188Thr) | |
| 13 | g.20189019T= | CA2077138869 | GJB2 | c.563A= (p.Lys188=) | |
| 13 | g.20189020T>A | CA387460897 | GJB2 | c.562A>T (p.Lys188Ter) | gnomAD v4 |