Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.71223657_71223971del | CA2739273574 | GJB1 | c.-16-35_264del | ClinVar |
X | g.71223721G>A | CA413499321 | GJB1 | c.14G>A (p.Gly5Asp) | |
X | g.71223721G>C | CA413499323 | GJB1 | c.14G>C (p.Gly5Ala) | |
X | g.71223721G= | CA2436388084 | GJB1 | c.14G= (p.Gly5=) | |
X | g.71223721G>T | CA16621491 | GJB1 | c.14G>T (p.Gly5Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.71223722T>A | CA516718369 | GJB1 | c.15T>A (p.Gly5=) | |
X | g.71223722T>C | CA516718372 | GJB1 | c.15T>C (p.Gly5=) | |
X | g.71223722T>G | CA516718375 | GJB1 | c.15T>G (p.Gly5=) | |
X | g.71223723T>A | CA413499325 | GJB1 | c.16T>A (p.Leu6Met) | |
X | g.71223723T>C | CA516718383 | GJB1 | c.16T>C (p.Leu6=) | gnomAD v4 |
X | g.71223723T>G | CA413499328 | GJB1 | c.16T>G (p.Leu6Val) | |
X | g.71223724T>A | CA413499330 | GJB1 | c.17T>A (p.Leu6Ter) | |
X | g.71223724T>C | CA413499331 | GJB1 | c.17T>C (p.Leu6Ser) | ClinVar dbSNP |
X | g.71223724T>G | CA413499334 | GJB1 | c.17T>G (p.Leu6Trp) | |
X | g.71223724T= | CA2436388085 | GJB1 | c.17T= (p.Leu6=) | |
X | g.71223725G>A | CA516718392 | GJB1 | c.18G>A (p.Leu6=) | |
X | g.71223725G>C | CA413499337 | GJB1 | c.18G>C (p.Leu6Phe) | dbSNP gnomAD v3 gnomAD v4 |
X | g.71223725G= | CA2436388086 | GJB1 | c.18G= (p.Leu6=) | |
X | g.71223725G>T | CA413499339 | GJB1 | c.18G>T (p.Leu6Phe) | |
X | g.71223726T>A | CA413499340 | GJB1 | c.19T>A (p.Tyr7Asn) | |
X | g.71223726T>C | CA413499344 | GJB1 | c.19T>C (p.Tyr7His) | gnomAD v4 |
X | g.71223726T>G | CA413499346 | GJB1 | c.19T>G (p.Tyr7Asp) | |
X | g.71223727A= | CA2436388087 | GJB1 | c.20A= (p.Tyr7=) | |
X | g.71223727A>C | CA413499371 | GJB1 | c.20A>C (p.Tyr7Ser) | |
X | g.71223727A>G | CA413499374 | GJB1 | c.20A>G (p.Tyr7Cys) | ClinVar dbSNP |
X | g.71223727A>T | CA413499376 | GJB1 | c.20A>T (p.Tyr7Phe) | |
X | g.71223727_71223729del | CA2695234554 | GJB1 | c.20_22del (p.Tyr7_Thr8delinsSer) | |
X | g.71223728C>A | CA413499380 | GJB1 | c.21C>A (p.Tyr7Ter) | ClinVar |
X | g.71223728C= | CA2436388088 | GJB1 | c.21C= (p.Tyr7=) | |
X | g.71223728C>G | CA413499382 | GJB1 | c.21C>G (p.Tyr7Ter) | |
X | g.71223728C>T | CA516718402 | GJB1 | c.21C>T (p.Tyr7=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.71223729A= | CA2436388089 | GJB1 | c.22A= (p.Thr8=) | |
X | g.71223729A>C | CA413499386 | GJB1 | c.22A>C (p.Thr8Pro) | ClinVar dbSNP |
X | g.71223729A>G | CA413499389 | GJB1 | c.22A>G (p.Thr8Ala) | |
X | g.71223729A>T | CA413499393 | GJB1 | c.22A>T (p.Thr8Ser) | |
X | g.71223730C>A | CA413499397 | GJB1 | c.23C>A (p.Thr8Asn) | |
X | g.71223730C= | CA2436388090 | GJB1 | c.23C= (p.Thr8=) | |
X | g.71223730C>G | CA413499401 | GJB1 | c.23C>G (p.Thr8Ser) | |
X | g.71223730C>T | CA413499403 | GJB1 | c.23C>T (p.Thr8Ile) | ClinVar dbSNP |
X | g.71223731C>A | CA516718413 | GJB1 | c.24C>A (p.Thr8=) | gnomAD v4 |
X | g.71223731C>G | CA516718416 | GJB1 | c.24C>G (p.Thr8=) | |
X | g.71223731C>T | CA516718420 | GJB1 | c.24C>T (p.Thr8=) | |
X | g.71223732T>A | CA413499405 | GJB1 | c.25T>A (p.Leu9Met) | |
X | g.71223732T>C | CA516718424 | GJB1 | c.25T>C (p.Leu9=) | |
X | g.71223732T>G | CA413499408 | GJB1 | c.25T>G (p.Leu9Val) | |
X | g.71223733T>A | CA413499411 | GJB1 | c.26T>A (p.Leu9Ter) | |
X | g.71223733T>C | CA413499414 | GJB1 | c.26T>C (p.Leu9Ser) | ClinVar dbSNP |
X | g.71223733T>G | CA413499416 | GJB1 | c.26T>G (p.Leu9Trp) | ClinVar dbSNP |
X | g.71223733T= | CA2436388091 | GJB1 | c.26T= (p.Leu9=) | |
X | g.71223734G>A | CA516718435 | GJB1 | c.27G>A (p.Leu9=) |