Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.71223657_71223971del | CA2739273574 | GJB1 | c.-16-35_264del | ClinVar |
X | g.71223896T>A | CA516821261 | GJB1 | c.189T>A (p.Val63=) | |
X | g.71223896T>C | CA516821263 | GJB1 | c.189T>C (p.Val63=) | |
X | g.71223896T>G | CA516821265 | GJB1 | c.189T>G (p.Val63=) | |
X | g.71223897T>A | CA413501354 | GJB1 | c.190T>A (p.Cys64Ser) | |
X | g.71223897T>C | CA413501356 | GJB1 | c.190T>C (p.Cys64Arg) | dbSNP |
X | g.71223897T>G | CA413501355 | GJB1 | c.190T>G (p.Cys64Gly) | |
X | g.71223898G>A | CA413501358 | GJB1 | c.191G>A (p.Cys64Tyr) | ClinVar dbSNP |
X | g.71223898G>C | CA413501360 | GJB1 | c.191G>C (p.Cys64Ser) | ClinVar dbSNP |
X | g.71223898G= | CA2436388208 | GJB1 | c.191G= (p.Cys64=) | |
X | g.71223898G>T | CA413501361 | GJB1 | c.191G>T (p.Cys64Phe) | ClinVar dbSNP |
X | g.71223899C>A | CA413501363 | GJB1 | c.192C>A (p.Cys64Ter) | ClinVar |
X | g.71223899C>G | CA413501364 | GJB1 | c.192C>G (p.Cys64Trp) | ClinVar dbSNP |
X | g.71223899C>T | CA516821268 | GJB1 | c.192C>T (p.Cys64=) | |
X | g.71223900T>A | CA413501366 | GJB1 | c.193T>A (p.Tyr65Asn) | |
X | g.71223900T>C | CA413501368 | GJB1 | c.193T>C (p.Tyr65His) | ClinVar dbSNP |
X | g.71223900T>G | CA413501370 | GJB1 | c.193T>G (p.Tyr65Asp) | |
X | g.71223900T= | CA2436388209 | GJB1 | c.193T= (p.Tyr65=) | |
X | g.71223901A= | CA2436388210 | GJB1 | c.194A= (p.Tyr65=) | |
X | g.71223901A>C | CA413501371 | GJB1 | c.194A>C (p.Tyr65Ser) | ClinVar dbSNP |
X | g.71223901A>G | CA255248 | GJB1 | c.194A>G (p.Tyr65Cys) | ClinVar dbSNP |
X | g.71223901A>T | CA413501373 | GJB1 | c.194A>T (p.Tyr65Phe) | |
X | g.71223902T>A | CA413501375 | GJB1 | c.195T>A (p.Tyr65Ter) | |
X | g.71223902T>C | CA516821273 | GJB1 | c.195T>C (p.Tyr65=) | |
X | g.71223902T>G | CA413501376 | GJB1 | c.195T>G (p.Tyr65Ter) | ClinVar dbSNP |
X | g.71223902T= | CA2436388211 | GJB1 | c.195T= (p.Tyr65=) | |
X | g.71223902_71223905delinsTGAC | CA2436388212 | GJB1 | c.195_198delinsTGAC (p.Tyr65=) | |
X | g.71223903G>A | CA413501380 | GJB1 | c.196G>A (p.Asp66Asn) | ClinVar dbSNP |
X | g.71223903G>C | CA413501384 | GJB1 | c.196G>C (p.Asp66His) | |
X | g.71223903G= | CA2436388213 | GJB1 | c.196G= (p.Asp66=) | |
X | g.71223903G>T | CA413501382 | GJB1 | c.196G>T (p.Asp66Tyr) | ClinVar dbSNP gnomAD v4 |
X | g.71223903_71223905del | CA915951183 | GJB1 | c.196_198del (p.Asp66del) | ClinVar dbSNP |
X | g.71223904A>C | CA413501386 | GJB1 | c.197A>C (p.Asp66Ala) | |
X | g.71223904A>G | CA413501388 | GJB1 | c.197A>G (p.Asp66Gly) | ClinVar |
X | g.71223904A>T | CA413501391 | GJB1 | c.197A>T (p.Asp66Val) | |
X | g.71223905C>A | CA413501394 | GJB1 | c.198C>A (p.Asp66Glu) | COSMIC |
X | g.71223905C>G | CA413501397 | GJB1 | c.198C>G (p.Asp66Glu) | ClinVar |
X | g.71223905C>T | CA516821275 | GJB1 | c.198C>T (p.Asp66=) | ClinVar |
X | g.71223906C>A | CA413501400 | GJB1 | c.199C>A (p.Gln67Lys) | |
X | g.71223906C= | CA2436388214 | GJB1 | c.199C= (p.Gln67=) | |
X | g.71223906C>G | CA413501401 | GJB1 | c.199C>G (p.Gln67Glu) | |
X | g.71223906C>T | CA413501411 | GJB1 | c.199C>T (p.Gln67Ter) | ClinVar dbSNP |
X | g.71223907A>C | CA413501416 | GJB1 | c.200A>C (p.Gln67Pro) | |
X | g.71223907A>G | CA413501418 | GJB1 | c.200A>G (p.Gln67Arg) | |
X | g.71223907A>T | CA413501419 | GJB1 | c.200A>T (p.Gln67Leu) | |
X | g.71223908A= | CA2436388215 | GJB1 | c.201A= (p.Gln67=) | |
X | g.71223908A>C | CA413501423 | GJB1 | c.201A>C (p.Gln67His) | dbSNP |
X | g.71223908A>G | CA516821278 | GJB1 | c.201A>G (p.Gln67=) | ClinVar |
X | g.71223908A>T | CA413501425 | GJB1 | c.201A>T (p.Gln67His) | |
X | g.71223909T>A | CA413501428 | GJB1 | c.202T>A (p.Phe68Ile) |