Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.71224215_71224258dup | CA1139667646 | GJB1 | c.508_551dup (p.Thr185SerfsTer26) | ClinVar dbSNP |
X | g.71224228C>A | CA413502947 | GJB1 | c.521C>A (p.Pro174His) | |
X | g.71224228C= | CA2436388428 | GJB1 | c.521C= (p.Pro174=) | |
X | g.71224228C>G | CA413502950 | GJB1 | c.521C>G (p.Pro174Arg) | ClinVar dbSNP |
X | g.71224228C>T | CA413502952 | GJB1 | c.521C>T (p.Pro174Leu) | ClinVar dbSNP |
X | g.71224229C>A | CA516821095 | GJB1 | c.522C>A (p.Pro174=) | |
X | g.71224229C= | CA2436388429 | GJB1 | c.522C= (p.Pro174=) | |
X | g.71224229C>G | CA516821099 | GJB1 | c.522C>G (p.Pro174=) | |
X | g.71224229C>T | CA516821096 | GJB1 | c.522C>T (p.Pro174=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.71224230A= | CA2436388430 | GJB1 | c.523A= (p.Asn175=) | |
X | g.71224230A>C | CA413502955 | GJB1 | c.523A>C (p.Asn175His) | |
X | g.71224230A>G | CA413502958 | GJB1 | c.523A>G (p.Asn175Asp) | ClinVar dbSNP |
X | g.71224230A>T | CA413502960 | GJB1 | c.523A>T (p.Asn175Tyr) | |
X | g.71224231dup | CA891844221 | GJB1 | c.524dup (p.Asn175LysfsTer?) | ClinVar dbSNP |
X | g.71224231A= | CA2436388431 | GJB1 | c.524A= (p.Asn175=) | |
X | g.71224231A>C | CA413502962 | GJB1 | c.524A>C (p.Asn175Thr) | |
X | g.71224231A>G | CA413502965 | GJB1 | c.524A>G (p.Asn175Ser) | ClinVar dbSNP |
X | g.71224231A>T | CA413502967 | GJB1 | c.524A>T (p.Asn175Ile) | |
X | g.71224232C>A | CA413502968 | GJB1 | c.525C>A (p.Asn175Lys) | gnomAD v4 |
X | g.71224232C>G | CA413502977 | GJB1 | c.525C>G (p.Asn175Lys) | |
X | g.71224232C>T | CA516821102 | GJB1 | c.525C>T (p.Asn175=) | |
X | g.71224233_71224262dup | CA16621492 | GJB1 | c.526_555dup (p.Thr185_Glu186insThrValAspCysPheValSerArgProThr) | ClinVar dbSNP |
X | g.71224233A>C | CA413502986 | GJB1 | c.526A>C (p.Thr176Pro) | ClinVar gnomAD v4 |
X | g.71224233A>G | CA413502983 | GJB1 | c.526A>G (p.Thr176Ala) | ClinVar |
X | g.71224233A>T | CA413502980 | GJB1 | c.526A>T (p.Thr176Ser) | |
X | g.71224234C>A | CA413502989 | GJB1 | c.527C>A (p.Thr176Lys) | |
X | g.71224234C= | CA2436388432 | GJB1 | c.527C= (p.Thr176=) | |
X | g.71224234C>G | CA413502991 | GJB1 | c.527C>G (p.Thr176Arg) | |
X | g.71224234C>T | CA413502993 | GJB1 | c.527C>T (p.Thr176Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.71224235A= | CA2436388433 | GJB1 | c.528A= (p.Thr176=) | |
X | g.71224235A>C | CA516821105 | GJB1 | c.528A>C (p.Thr176=) | |
X | g.71224235A>G | CA516821108 | GJB1 | c.528A>G (p.Thr176=) | dbSNP gnomAD v4 |
X | g.71224235A>T | CA516821110 | GJB1 | c.528A>T (p.Thr176=) | |
X | g.71224235_71224237del | CA2695234569 | GJB1 | c.528_530del (p.Val177del) | |
X | g.71224236G>A | CA413502996 | GJB1 | c.529G>A (p.Val177Met) | ClinVar dbSNP |
X | g.71224236G>C | CA413502998 | GJB1 | c.529G>C (p.Val177Leu) | |
X | g.71224236G= | CA2436388434 | GJB1 | c.529G= (p.Val177=) | |
X | g.71224236G>T | CA413503000 | GJB1 | c.529G>T (p.Val177Leu) | |
X | g.71224237T>A | CA413503003 | GJB1 | c.530T>A (p.Val177Glu) | ClinVar dbSNP |
X | g.71224237T>C | CA413503005 | GJB1 | c.530T>C (p.Val177Ala) | ClinVar dbSNP |
X | g.71224237T>G | CA413503006 | GJB1 | c.530T>G (p.Val177Gly) | |
X | g.71224237T= | CA2436388435 | GJB1 | c.530T= (p.Val177=) | |
X | g.71224238G>A | CA516821114 | GJB1 | c.531G>A (p.Val177=) | gnomAD v4 |
X | g.71224238G>C | CA516821116 | GJB1 | c.531G>C (p.Val177=) | |
X | g.71224238G= | CA2436388436 | GJB1 | c.531G= (p.Val177=) | |
X | g.71224238G>T | CA516821117 | GJB1 | c.531G>T (p.Val177=) | |
X | g.71224238_71224239insTTTTT | CA1134115365 | GJB1 | c.531_532insTTTTT (p.Asp178PhefsTer20) | gnomAD v3 gnomAD v4 |
X | g.71224239G>A | CA413503011 | GJB1 | c.532G>A (p.Asp178Asn) | ClinVar dbSNP |
X | g.71224239G>C | CA413503013 | GJB1 | c.532G>C (p.Asp178His) | |
X | g.71224239G= | CA2436388437 | GJB1 | c.532G= (p.Asp178=) |