Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20222700T>A | CA6904364 | GJB6 | c.781A>T (p.Ser261Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20222700T>C | CA6904363 | GJB6 | c.781A>G (p.Ser261Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20222700T>G | CA387467022 | GJB6 | c.781A>C (p.Ser261Arg) | |
13 | g.20222700T= | CA2077159288 | GJB6 | c.781A= (p.Ser261=) | |
13 | g.20222701T>A | CA483154068 | GJB6 | c.780A>T (p.Pro260=) | |
13 | g.20222701T>C | CA483154070 | GJB6 | c.780A>G (p.Pro260=) | |
13 | g.20222701T>G | CA483154069 | GJB6 | c.780A>C (p.Pro260=) | |
13 | g.20222702G>A | CA387467024 | GJB6 | c.779C>T (p.Pro260Leu) | |
13 | g.20222702G>C | CA387467026 | GJB6 | c.779C>G (p.Pro260Arg) | |
13 | g.20222702G>T | CA387467027 | GJB6 | c.779C>A (p.Pro260Gln) | gnomAD v4 COSMIC |
13 | g.20222703G>A | CA387467033 | GJB6 | c.778C>T (p.Pro260Ser) | |
13 | g.20222703G>C | CA387467029 | GJB6 | c.778C>G (p.Pro260Ala) | |
13 | g.20222703G>T | CA387467031 | GJB6 | c.778C>A (p.Pro260Thr) | |
13 | g.20222704G>A | CA483154071 | GJB6 | c.777C>T (p.Phe259=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20222704G>C | CA387467034 | GJB6 | c.777C>G (p.Phe259Leu) | |
13 | g.20222704G= | CA2077159297 | GJB6 | c.777C= (p.Phe259=) | |
13 | g.20222704G>T | CA387467035 | GJB6 | c.777C>A (p.Phe259Leu) | |
13 | g.20222705A>C | CA387467038 | GJB6 | c.776T>G (p.Phe259Cys) | |
13 | g.20222705A>G | CA387467039 | GJB6 | c.776T>C (p.Phe259Ser) | |
13 | g.20222705A>T | CA387467041 | GJB6 | c.776T>A (p.Phe259Tyr) | |
13 | g.20222706A= | CA2077159300 | GJB6 | c.775T= (p.Phe259=) | |
13 | g.20222706A>C | CA387467045 | GJB6 | c.775T>G (p.Phe259Val) | |
13 | g.20222706A>G | CA6904365 | GJB6 | c.775T>C (p.Phe259Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20222706A>T | CA387467043 | GJB6 | c.775T>A (p.Phe259Ile) | |
13 | g.20222707A>C | CA483154072 | GJB6 | c.774T>G (p.Gly258=) | |
13 | g.20222707A>G | CA483154073 | GJB6 | c.774T>C (p.Gly258=) | gnomAD v4 |
13 | g.20222707A>T | CA483154074 | GJB6 | c.774T>A (p.Gly258=) | |
13 | g.20222708C>A | CA387467047 | GJB6 | c.773G>T (p.Gly258Val) | gnomAD v4 |
13 | g.20222708C= | CA2077159302 | GJB6 | c.773G= (p.Gly258=) | |
13 | g.20222708C>G | CA6904366 | GJB6 | c.773G>C (p.Gly258Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20222708C>T | CA387467048 | GJB6 | c.773G>A (p.Gly258Asp) | |
13 | g.20222709C>A | CA387467050 | GJB6 | c.772G>T (p.Gly258Cys) | gnomAD v4 |
13 | g.20222709C= | CA2077159305 | GJB6 | c.772G= (p.Gly258=) | |
13 | g.20222709C>G | CA387467052 | GJB6 | c.772G>C (p.Gly258Arg) | |
13 | g.20222709C>T | CA6904367 | GJB6 | c.772G>A (p.Gly258Ser) | dbSNP ExAC gnomAD v2 |
13 | g.20222710T>A | CA483154075 | GJB6 | c.771A>T (p.Thr257=) | |
13 | g.20222710T>C | CA483154076 | GJB6 | c.771A>G (p.Thr257=) | dbSNP COSMIC |
13 | g.20222710T>G | CA483154077 | GJB6 | c.771A>C (p.Thr257=) | |
13 | g.20222711G>A | CA387467055 | GJB6 | c.770C>T (p.Thr257Ile) | dbSNP |
13 | g.20222711G>C | CA387467057 | GJB6 | c.770C>G (p.Thr257Arg) | |
13 | g.20222711G= | CA2077159308 | GJB6 | c.770C= (p.Thr257=) | |
13 | g.20222711G>T | CA387467058 | GJB6 | c.770C>A (p.Thr257Lys) | |
13 | g.20222712T>A | CA387467060 | GJB6 | c.769A>T (p.Thr257Ser) | |
13 | g.20222712T>C | CA387467062 | GJB6 | c.769A>G (p.Thr257Ala) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.20222712T>G | CA387467064 | GJB6 | c.769A>C (p.Thr257Pro) | |
13 | g.20222712T= | CA2077159310 | GJB6 | c.769A= (p.Thr257=) | |
13 | g.20222713G>A | CA483154078 | GJB6 | c.768C>T (p.Ile256=) | |
13 | g.20222713G>C | CA387467065 | GJB6 | c.768C>G (p.Ile256Met) | |
13 | g.20222713G>T | CA483154079 | GJB6 | c.768C>A (p.Ile256=) | |
13 | g.20222714A= | CA2077159312 | GJB6 | c.767T= (p.Ile256=) |