Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20223042C>A | CA387468105 | GJB6 | c.439G>T (p.Glu147Ter) | |
13 | g.20223042C= | CA2077159780 | GJB6 | c.439G= (p.Glu147=) | |
13 | g.20223042C>G | CA387468106 | GJB6 | c.439G>C (p.Glu147Gln) | |
13 | g.20223042C>T | CA387468107 | GJB6 | c.439G>A (p.Glu147Lys) | dbSNP COSMIC |
13 | g.20223043A= | CA2077159782 | GJB6 | c.438T= (p.Phe146=) | |
13 | g.20223043A>C | CA387468108 | GJB6 | c.438T>G (p.Phe146Leu) | |
13 | g.20223043A>G | CA483154194 | GJB6 | c.438T>C (p.Phe146=) | dbSNP gnomAD v4 |
13 | g.20223043A>T | CA387468109 | GJB6 | c.438T>A (p.Phe146Leu) | |
13 | g.20223044A>C | CA387468112 | GJB6 | c.437T>G (p.Phe146Cys) | |
13 | g.20223044A>G | CA387468111 | GJB6 | c.437T>C (p.Phe146Ser) | gnomAD v4 |
13 | g.20223044A>T | CA387468110 | GJB6 | c.437T>A (p.Phe146Tyr) | |
13 | g.20223045A>C | CA387468113 | GJB6 | c.436T>G (p.Phe146Val) | |
13 | g.20223045A>G | CA387468114 | GJB6 | c.436T>C (p.Phe146Leu) | gnomAD v4 |
13 | g.20223045A>T | CA387468115 | GJB6 | c.436T>A (p.Phe146Ile) | |
13 | g.20223046G>A | CA483154196 | GJB6 | c.435C>T (p.Ile145=) | |
13 | g.20223046G>C | CA387468116 | GJB6 | c.435C>G (p.Ile145Met) | gnomAD v4 |
13 | g.20223046G>T | CA483154197 | GJB6 | c.435C>A (p.Ile145=) | |
13 | g.20223046_20223074delinsGATGATTCGGAAAAAGATGCTGCTGGTGT | CA2077159785 | GJB6 | c.407_435delinsACACCAGCAGCATCTTTTTCCGAATCATC (p.Tyr136=) | |
13 | g.20223047A>C | CA387468117 | GJB6 | c.434T>G (p.Ile145Ser) | |
13 | g.20223047A>G | CA387468118 | GJB6 | c.434T>C (p.Ile145Thr) | |
13 | g.20223047A>T | CA387468119 | GJB6 | c.434T>A (p.Ile145Asn) | |
13 | g.20223048_20223075del | CA919222302 | GJB6 | c.407_434del (p.Tyr136SerfsTer23) | ClinVar dbSNP gnomAD v4 |
13 | g.20223048T>A | CA387468120 | GJB6 | c.433A>T (p.Ile145Phe) | |
13 | g.20223048T>C | CA387468121 | GJB6 | c.433A>G (p.Ile145Val) | |
13 | g.20223048T>G | CA387468122 | GJB6 | c.433A>C (p.Ile145Leu) | |
13 | g.20223049G>A | CA483154199 | GJB6 | c.432C>T (p.Ile144=) | COSMIC |
13 | g.20223049G>C | CA387468123 | GJB6 | c.432C>G (p.Ile144Met) | gnomAD v4 |
13 | g.20223049G= | CA2077159789 | GJB6 | c.432C= (p.Ile144=) | |
13 | g.20223049G>T | CA483154201 | GJB6 | c.432C>A (p.Ile144=) | dbSNP gnomAD v4 |
13 | g.20223052_20223063del | CA2622252299 | GJB6 | c.421_432del (p.Phe141_Ile144del) | gnomAD v4 |
13 | g.20223050A>C | CA387468124 | GJB6 | c.431T>G (p.Ile144Ser) | |
13 | g.20223050A>G | CA387468125 | GJB6 | c.431T>C (p.Ile144Thr) | |
13 | g.20223050A>T | CA387468126 | GJB6 | c.431T>A (p.Ile144Asn) | |
13 | g.20223051T>A | CA387468129 | GJB6 | c.430A>T (p.Ile144Phe) | |
13 | g.20223051T>C | CA387468128 | GJB6 | c.430A>G (p.Ile144Val) | |
13 | g.20223051T>G | CA387468127 | GJB6 | c.430A>C (p.Ile144Leu) | |
13 | g.20223052T>A | CA483154203 | GJB6 | c.429A>T (p.Arg143=) | |
13 | g.20223052T>C | CA483154204 | GJB6 | c.429A>G (p.Arg143=) | |
13 | g.20223052T>G | CA483154206 | GJB6 | c.429A>C (p.Arg143=) | |
13 | g.20223053del | CA2622252300 | GJB6 | c.428del (p.Arg143GlnfsTer25) | gnomAD v4 |
13 | g.20223053C>A | CA387468130 | GJB6 | c.428G>T (p.Arg143Leu) | gnomAD v4 |
13 | g.20223053C= | CA2077159791 | GJB6 | c.428G= (p.Arg143=) | |
13 | g.20223053C>G | CA387468131 | GJB6 | c.428G>C (p.Arg143Pro) | |
13 | g.20223053C>T | CA6904442 | GJB6 | c.428G>A (p.Arg143Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20223054G>A | CA6904443 | GJB6 | c.427C>T (p.Arg143Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
13 | g.20223054G>C | CA387468132 | GJB6 | c.427C>G (p.Arg143Gly) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.20223054G= | CA2077159794 | GJB6 | c.427C= (p.Arg143=) | |
13 | g.20223054G>T | CA483154208 | GJB6 | c.427C>A (p.Arg143=) | |
13 | g.20223055G>A | CA483154209 | GJB6 | c.426C>T (p.Phe142=) | |
13 | g.20223055G>C | CA387468133 | GJB6 | c.426C>G (p.Phe142Leu) |