| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.71224215_71224258dup | CA1139667646 | GJB1 | c.508_551dup (p.Thr185SerfsTer26) | ClinVar dbSNP |
| X | g.71224221C>A | CA413502902 | GJB1 | c.514C>A (p.Pro172Thr) | |
| X | g.71224221C= | CA2436388423 | GJB1 | c.514C= (p.Pro172=) | |
| X | g.71224221C>G | CA413502905 | GJB1 | c.514C>G (p.Pro172Ala) | ClinVar dbSNP |
| X | g.71224221C>T | CA255232 | GJB1 | c.514C>T (p.Pro172Ser) | ClinVar dbSNP ExAC gnomAD v2 |
| X | g.71224222C>A | CA413502909 | GJB1 | c.515C>A (p.Pro172His) | |
| X | g.71224222C= | CA2436388424 | GJB1 | c.515C= (p.Pro172=) | |
| X | g.71224222C>G | CA413502912 | GJB1 | c.515C>G (p.Pro172Arg) | ClinVar dbSNP |
| X | g.71224222C>T | CA413502914 | GJB1 | c.515C>T (p.Pro172Leu) | ClinVar dbSNP |
| X | g.71224223C>A | CA516821081 | GJB1 | c.516C>A (p.Pro172=) | |
| X | g.71224223C>G | CA516821083 | GJB1 | c.516C>G (p.Pro172=) | |
| X | g.71224223C>T | CA516821085 | GJB1 | c.516C>T (p.Pro172=) | |
| X | g.71224224T>A | CA413502918 | GJB1 | c.517T>A (p.Cys173Ser) | |
| X | g.71224224T>C | CA413502920 | GJB1 | c.517T>C (p.Cys173Arg) | ClinVar dbSNP gnomAD v4 |
| X | g.71224224T>G | CA413502922 | GJB1 | c.517T>G (p.Cys173Gly) | |
| X | g.71224224T= | CA2436388425 | GJB1 | c.517T= (p.Cys173=) | |
| X | g.71224225G>A | CA413502925 | GJB1 | c.518G>A (p.Cys173Tyr) | |
| X | g.71224225G>C | CA413502926 | GJB1 | c.518G>C (p.Cys173Ser) | |
| X | g.71224225G= | CA2436388426 | GJB1 | c.518G= (p.Cys173=) | |
| X | g.71224225G>T | CA413502928 | GJB1 | c.518G>T (p.Cys173Phe) | ClinVar dbSNP |
| X | g.71224226C>A | CA413502931 | GJB1 | c.519C>A (p.Cys173Ter) | ClinVar dbSNP |
| X | g.71224226C= | CA2436388427 | GJB1 | c.519C= (p.Cys173=) | |
| X | g.71224226C>G | CA413502934 | GJB1 | c.519C>G (p.Cys173Trp) | |
| X | g.71224226C>T | CA516821091 | GJB1 | c.519C>T (p.Cys173=) | ClinVar dbSNP |
| X | g.71224227C>A | CA413502938 | GJB1 | c.520C>A (p.Pro174Thr) | |
| X | g.71224227C>G | CA413502943 | GJB1 | c.520C>G (p.Pro174Ala) | ClinVar dbSNP |
| X | g.71224227C>T | CA413502940 | GJB1 | c.520C>T (p.Pro174Ser) | |
| 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 |