Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20189185_20189194del | CA2695217669 | GJB2 | c.390_399del (p.Ser131GlyfsTer?) | |
13 | g.20189188G>A | CA483153983 | GJB2 | c.394C>T (p.Leu132=) | |
13 | g.20189188G>C | CA387461242 | GJB2 | c.394C>G (p.Leu132Val) | |
13 | g.20189188G>T | CA387461243 | GJB2 | c.394C>A (p.Leu132Met) | |
13 | g.20189188_20189189insTGTT | CA2622252292 | GJB2 | c.393_394insAACA (p.Leu132AsnfsTer?) | gnomAD v4 |
13 | g.20189189G>A | CA483153984 | GJB2 | c.393C>T (p.Ser131=) | |
13 | g.20189189G>C | CA483153985 | GJB2 | c.393C>G (p.Ser131=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189189G= | CA2077139332 | GJB2 | c.393C= (p.Ser131=) | |
13 | g.20189189G>T | CA483153986 | GJB2 | c.393C>A (p.Ser131=) | |
13 | g.20189190G>A | CA387461244 | GJB2 | c.392C>T (p.Ser131Phe) | |
13 | g.20189190G>C | CA387461245 | GJB2 | c.392C>G (p.Ser131Cys) | |
13 | g.20189190G>T | CA387461246 | GJB2 | c.392C>A (p.Ser131Tyr) | |
13 | g.20189190_20189191insGATTATAGGTATA | CA2622252293 | GJB2 | c.391_392insTATACCTATAATC (p.Ser131LeufsTer4) | gnomAD v4 |
13 | g.20189191A>C | CA387461247 | GJB2 | c.391T>G (p.Ser131Ala) | |
13 | g.20189191A>G | CA387461248 | GJB2 | c.391T>C (p.Ser131Pro) | gnomAD v4 |
13 | g.20189191A>T | CA387461249 | GJB2 | c.391T>A (p.Ser131Thr) | |
13 | g.20189192G>A | CA483153987 | GJB2 | c.390C>T (p.Gly130=) | |
13 | g.20189192G>C | CA483153988 | GJB2 | c.390C>G (p.Gly130=) | |
13 | g.20189192G>T | CA483153989 | GJB2 | c.390C>A (p.Gly130=) | |
13 | g.20189193C>A | CA387461250 | GJB2 | c.389G>T (p.Gly130Val) | |
13 | g.20189193C= | CA2077139339 | GJB2 | c.389G= (p.Gly130=) | |
13 | g.20189193C>G | CA10576937 | GJB2 | c.389G>C (p.Gly130Ala) | ClinVar dbSNP |
13 | g.20189193C>T | CA6904274 | GJB2 | c.389G>A (p.Gly130Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189194C>A | CA387461251 | GJB2 | c.388G>T (p.Gly130Cys) | |
13 | g.20189194C>G | CA387461252 | GJB2 | c.388G>C (p.Gly130Arg) | |
13 | g.20189194C>T | CA387461253 | GJB2 | c.388G>A (p.Gly130Ser) | |
13 | g.20189195T>A | CA387461255 | GJB2 | c.387A>T (p.Glu129Asp) | |
13 | g.20189195T>C | CA483153990 | GJB2 | c.387A>G (p.Glu129=) | ClinVar dbSNP |
13 | g.20189195T>G | CA387461254 | GJB2 | c.387A>C (p.Glu129Asp) | |
13 | g.20189196T>A | CA387461256 | GJB2 | c.386A>T (p.Glu129Val) | |
13 | g.20189196T>C | CA387461258 | GJB2 | c.386A>G (p.Glu129Gly) | |
13 | g.20189196T>G | CA387461257 | GJB2 | c.386A>C (p.Glu129Ala) | |
13 | g.20189197C>A | CA16044153 | GJB2 | c.385G>T (p.Glu129Ter) | ClinVar dbSNP |
13 | g.20189197C= | CA2077139348 | GJB2 | c.385G= (p.Glu129=) | |
13 | g.20189197C>G | CA387461259 | GJB2 | c.385G>C (p.Glu129Gln) | |
13 | g.20189197C>T | CA134970 | GJB2 | c.385G>A (p.Glu129Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189198G>A | CA134968 | GJB2 | c.384C>T (p.Ile128=) | ClinVar dbSNP gnomAD v4 |
13 | g.20189198G>C | CA387461260 | GJB2 | c.384C>G (p.Ile128Met) | |
13 | g.20189198G= | CA2077139353 | GJB2 | c.384C= (p.Ile128=) | |
13 | g.20189198G>T | CA483153991 | GJB2 | c.384C>A (p.Ile128=) | |
13 | g.20189199A>C | CA387461263 | GJB2 | c.383T>G (p.Ile128Ser) | |
13 | g.20189199A>G | CA387461262 | GJB2 | c.383T>C (p.Ile128Thr) | |
13 | g.20189199A>T | CA387461261 | GJB2 | c.383T>A (p.Ile128Asn) | |
13 | g.20189199_20189205dup | CA2695217670 | GJB2 | c.377_383dup (p.Glu129ProfsTer?) | |
13 | g.20189200T>A | CA387461264 | GJB2 | c.382A>T (p.Ile128Phe) | |
13 | g.20189200T>C | CA387461265 | GJB2 | c.382A>G (p.Ile128Val) | ClinVar dbSNP gnomAD v4 |
13 | g.20189200T>G | CA387461266 | GJB2 | c.382A>C (p.Ile128Leu) | |
13 | g.20189200T= | CA2077139357 | GJB2 | c.382A= (p.Ile128=) | |
13 | g.20189201G>A | CA483153994 | GJB2 | c.381C>T (p.Arg127=) | |
13 | g.20189201G>C | CA483153993 | GJB2 | c.381C>G (p.Arg127=) |