UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.71224020del | CA915951192 | GJB1 | c.313del (p.Met105CysfsTer16) | ClinVar dbSNP |
| X | g.71224020A>C | CA413501887 | GJB1 | c.313A>C (p.Met105Leu) | |
| X | g.71224020A>G | CA413501888 | GJB1 | c.313A>G (p.Met105Val) | gnomAD v4 |
| X | g.71224020A>T | CA413501886 | GJB1 | c.313A>T (p.Met105Leu) | |
| X | g.71224021T>A | CA413501890 | GJB1 | c.314T>A (p.Met105Lys) | |
| X | g.71224021T>C | CA10445291 | GJB1 | c.314T>C (p.Met105Thr) | dbSNP ExAC gnomAD v2 |
| X | g.71224021T>G | CA413501892 | GJB1 | c.314T>G (p.Met105Arg) | |
| X | g.71224021T= | CA2436388298 | GJB1 | c.314T= (p.Met105=) | |
| X | g.71224022G>A | CA413501893 | GJB1 | c.315G>A (p.Met105Ile) | |
| X | g.71224022G>C | CA413501895 | GJB1 | c.315G>C (p.Met105Ile) | |
| X | g.71224022G>T | CA413501897 | GJB1 | c.315G>T (p.Met105Ile) | |
| X | g.71224023_71224027del | CA2573159492 | GJB1 | c.316_320del (p.Leu106AlafsTer2) | ClinVar dbSNP |
| X | g.71224023C>A | CA413501899 | GJB1 | c.316C>A (p.Leu106Ile) | |
| X | g.71224023C>G | CA413501900 | GJB1 | c.316C>G (p.Leu106Val) | ClinVar |
| X | g.71224023C>T | CA516820844 | GJB1 | c.316C>T (p.Leu106=) | |
| X | g.71224024T>A | CA413501902 | GJB1 | c.317T>A (p.Leu106Gln) | |
| X | g.71224024T>C | CA413501903 | GJB1 | c.317T>C (p.Leu106Pro) | |
| X | g.71224024T>G | CA413501905 | GJB1 | c.317T>G (p.Leu106Arg) | |
| X | g.71224025A= | CA2436388299 | GJB1 | c.318A= (p.Leu106=) | |
| X | g.71224025A>C | CA516820845 | GJB1 | c.318A>C (p.Leu106=) | |
| X | g.71224025A>G | CA10445292 | GJB1 | c.318A>G (p.Leu106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224025A>T | CA516820846 | GJB1 | c.318A>T (p.Leu106=) | |
| X | g.71224025dup | CA2573055392 | GJB1 | c.318dup (p.Arg107ThrfsTer3) | ClinVar dbSNP |
| X | g.71224025_71224026del | CA2524494440 | GJB1 | c.318_319del (p.Arg107AlafsTer2) | |
| X | g.71224025_71224026delinsAC | CA2436388300 | GJB1 | c.318_319delinsAC (p.Leu106=) | |
| X | g.71224026del | CA891844220 | GJB1 | c.319del (p.Arg107GlyfsTer14) | ClinVar dbSNP |
| X | g.71224026C>A | CA516820847 | GJB1 | c.319C>A (p.Arg107=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224026C= | CA2436388301 | GJB1 | c.319C= (p.Arg107=) | |
| X | g.71224026C>G | CA413501907 | GJB1 | c.319C>G (p.Arg107Gly) | |
| X | g.71224026C>T | CA279061 | GJB1 | c.319C>T (p.Arg107Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224027G>A | CA413501913 | GJB1 | c.320G>A (p.Arg107Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224027G>C | CA413501911 | GJB1 | c.320G>C (p.Arg107Pro) | |
| X | g.71224027G= | CA2436388302 | GJB1 | c.320G= (p.Arg107=) | |
| X | g.71224027G>T | CA413501910 | GJB1 | c.320G>T (p.Arg107Leu) | |
| X | g.71224028G>A | CA516820848 | GJB1 | c.321G>A (p.Arg107=) | dbSNP gnomAD v4 |
| X | g.71224028G>C | CA516820849 | GJB1 | c.321G>C (p.Arg107=) | |
| X | g.71224028G= | CA2436388303 | GJB1 | c.321G= (p.Arg107=) | |
| X | g.71224028G>T | CA516820850 | GJB1 | c.321G>T (p.Arg107=) | |
| X | g.71224028_71224029insTG | CA2562517199 | GJB1 | c.321_322insTG (p.Leu108CysfsTer14) | |
| X | g.71224029C>A | CA413501914 | GJB1 | c.322C>A (p.Leu108Ile) | |
| X | g.71224029C= | CA2436388304 | GJB1 | c.322C= (p.Leu108=) | |
| X | g.71224029C>G | CA413501915 | GJB1 | c.322C>G (p.Leu108Val) | |
| X | g.71224029C>T | CA413501917 | GJB1 | c.322C>T (p.Leu108Phe) | |
| X | g.71224030T>A | CA413501919 | GJB1 | c.323T>A (p.Leu108His) | |
| X | g.71224030T>C | CA413501920 | GJB1 | c.323T>C (p.Leu108Pro) | ClinVar dbSNP |
| X | g.71224030T>G | CA413501922 | GJB1 | c.323T>G (p.Leu108Arg) | |
| X | g.71224030T= | CA2436388305 | GJB1 | c.323T= (p.Leu108=) | |
| X | g.71224031dup | CA658799791 | GJB1 | c.324dup (p.Glu109Ter) | ClinVar dbSNP |
| X | g.71224031T>A | CA516820851 | GJB1 | c.324T>A (p.Leu108=) | |
| X | g.71224031T>C | CA516820852 | GJB1 | c.324T>C (p.Leu108=) | |
| X | g.71224031T>G | CA516820853 | GJB1 | c.324T>G (p.Leu108=) | |
| X | g.71224032G>A | CA413501923 | GJB1 | c.325G>A (p.Glu109Lys) | gnomAD v4 |
| X | g.71224032G>C | CA413501924 | GJB1 | c.325G>C (p.Glu109Gln) | |
| X | g.71224032G= | CA2436388306 | GJB1 | c.325G= (p.Glu109=) | |
| X | g.71224032G>T | CA10445293 | GJB1 | c.325G>T (p.Glu109Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224033A>C | CA413501925 | GJB1 | c.326A>C (p.Glu109Ala) | |
| X | g.71224033A>G | CA413501926 | GJB1 | c.326A>G (p.Glu109Gly) | |
| X | g.71224033A>T | CA413501927 | GJB1 | c.326A>T (p.Glu109Val) | |
| X | g.71224034G>A | CA516820854 | GJB1 | c.327G>A (p.Glu109=) | ClinVar |
| X | g.71224034G>C | CA413501928 | GJB1 | c.327G>C (p.Glu109Asp) | |
| X | g.71224034G>T | CA413501929 | GJB1 | c.327G>T (p.Glu109Asp) | |
| X | g.71224035G>A | CA413501931 | GJB1 | c.328G>A (p.Gly110Ser) | |
| X | g.71224035G>C | CA413501932 | GJB1 | c.328G>C (p.Gly110Arg) | |
| X | g.71224035G>T | CA413501930 | GJB1 | c.328G>T (p.Gly110Cys) | |
| X | g.71224036G>A | CA413501934 | GJB1 | c.329G>A (p.Gly110Asp) | ClinVar dbSNP |
| X | g.71224036G>C | CA413501933 | GJB1 | c.329G>C (p.Gly110Ala) | COSMIC |
| X | g.71224036G= | CA2436388307 | GJB1 | c.329G= (p.Gly110=) | |
| X | g.71224036G>T | CA413501935 | GJB1 | c.329G>T (p.Gly110Val) | ClinVar |
| X | g.71224036_71224054delinsGCCATGGGGACCCCCTACA | CA2436388308 | GJB1 | c.329_347delinsGCCATGGGGACCCCCTACA (p.Gly110=) | |
| X | g.71224037C>A | CA516820857 | GJB1 | c.330C>A (p.Gly110=) | gnomAD v4 |
| X | g.71224037C= | CA2436388309 | GJB1 | c.330C= (p.Gly110=) | |
| X | g.71224037C>G | CA516820856 | GJB1 | c.330C>G (p.Gly110=) | dbSNP |
| X | g.71224037C>T | CA516820855 | GJB1 | c.330C>T (p.Gly110=) | |
| X | g.71224039_71224056del | CA915951193 | GJB1 | c.332_349del (p.His111_His116del) | ClinVar dbSNP |
| X | g.71224038C>A | CA413501936 | GJB1 | c.331C>A (p.His111Asn) | |
| X | g.71224038C>G | CA413501937 | GJB1 | c.331C>G (p.His111Asp) | |
| X | g.71224038C>T | CA413501938 | GJB1 | c.331C>T (p.His111Tyr) | gnomAD v4 |
| X | g.71224039A>C | CA413501939 | GJB1 | c.332A>C (p.His111Pro) | |
| X | g.71224039A>G | CA413501940 | GJB1 | c.332A>G (p.His111Arg) | gnomAD v4 |
| X | g.71224039A>T | CA413501941 | GJB1 | c.332A>T (p.His111Leu) | |
| X | g.71224040T>A | CA413501943 | GJB1 | c.333T>A (p.His111Gln) | |
| X | g.71224040T>C | CA516820858 | GJB1 | c.333T>C (p.His111=) | |
| X | g.71224040T>G | CA413501942 | GJB1 | c.333T>G (p.His111Gln) | |
| X | g.71224041G>A | CA413501944 | GJB1 | c.334G>A (p.Gly112Arg) | |
| X | g.71224041G>C | CA413501945 | GJB1 | c.334G>C (p.Gly112Arg) | |
| X | g.71224041G>T | CA413501946 | GJB1 | c.334G>T (p.Gly112Trp) | |
| X | g.71224042G>A | CA330997734 | GJB1 | c.335G>A (p.Gly112Glu) | dbSNP |
| X | g.71224042G>C | CA413501947 | GJB1 | c.335G>C (p.Gly112Ala) | gnomAD v4 |
| X | g.71224042G= | CA2436388310 | GJB1 | c.335G= (p.Gly112=) | |
| X | g.71224042G>T | CA413501948 | GJB1 | c.335G>T (p.Gly112Val) | |
| X | g.71224043G>A | CA516820859 | GJB1 | c.336G>A (p.Gly112=) | |
| X | g.71224043G>C | CA516820861 | GJB1 | c.336G>C (p.Gly112=) | |
| X | g.71224043G>T | CA516820860 | GJB1 | c.336G>T (p.Gly112=) | |
| X | g.71224044G>A | CA413501951 | GJB1 | c.337G>A (p.Asp113Asn) | |
| X | g.71224044G>C | CA413501949 | GJB1 | c.337G>C (p.Asp113His) | |
| X | g.71224044G>T | CA413501950 | GJB1 | c.337G>T (p.Asp113Tyr) | |
| X | g.71224044_71224052delinsGACCCCCTA | CA2436388311 | GJB1 | c.337_345delinsGACCCCCTA (p.Asp113=) | |
| X | g.71224045A= | CA2436388312 | GJB1 | c.338A= (p.Asp113=) | |
| X | g.71224045A>C | CA413501952 | GJB1 | c.338A>C (p.Asp113Ala) | |
| X | g.71224045A>G | CA330997736 | GJB1 | c.338A>G (p.Asp113Gly) | dbSNP gnomAD v4 |
| X | g.71224045A>T | CA413501953 | GJB1 | c.338A>T (p.Asp113Val) | |
| X | g.71224045_71224052delinsTGGC | CA915951194 | GJB1 | c.338_345delinsTGGC (p.Asp113ValfsTer7) | ClinVar dbSNP |
| X | g.71224046C>A | CA413501954 | GJB1 | c.339C>A (p.Asp113Glu) | |
| X | g.71224046C>G | CA413501955 | GJB1 | c.339C>G (p.Asp113Glu) | |
| X | g.71224046C>T | CA516820862 | GJB1 | c.339C>T (p.Asp113=) | |
| X | g.71224050dup | CA16616536 | GJB1 | c.343dup (p.Leu115ProfsTer?) | ClinVar dbSNP |
| X | g.71224047C>A | CA10445294 | GJB1 | c.340C>A (p.Pro114Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224047C= | CA2436388313 | GJB1 | c.340C= (p.Pro114=) | |
| X | g.71224047C>G | CA10445295 | GJB1 | c.340C>G (p.Pro114Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224047C>T | CA413501956 | GJB1 | c.340C>T (p.Pro114Ser) | gnomAD v4 |
| X | g.71224048C>A | CA413501957 | GJB1 | c.341C>A (p.Pro114His) | |
| X | g.71224048C>G | CA413501958 | GJB1 | c.341C>G (p.Pro114Arg) | |
| X | g.71224048C>T | CA413501959 | GJB1 | c.341C>T (p.Pro114Leu) | |
| X | g.71224049C>A | CA516820863 | GJB1 | c.342C>A (p.Pro114=) | |
| X | g.71224049C>G | CA516820864 | GJB1 | c.342C>G (p.Pro114=) | |
| X | g.71224049C>T | CA516820865 | GJB1 | c.342C>T (p.Pro114=) | |
| X | g.71224050C>A | CA413501960 | GJB1 | c.343C>A (p.Leu115Ile) | dbSNP |
| X | g.71224050C= | CA2436388314 | GJB1 | c.343C= (p.Leu115=) | |
| X | g.71224050C>G | CA10445296 | GJB1 | c.343C>G (p.Leu115Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224050C>T | CA516820866 | GJB1 | c.343C>T (p.Leu115=) | |
| X | g.71224051T>A | CA413501961 | GJB1 | c.344T>A (p.Leu115Gln) | |
| X | g.71224051T>C | CA413501963 | GJB1 | c.344T>C (p.Leu115Pro) | ClinVar dbSNP |
| X | g.71224051T>G | CA413501962 | GJB1 | c.344T>G (p.Leu115Arg) | |
| X | g.71224051T= | CA2436388315 | GJB1 | c.344T= (p.Leu115=) | |
| X | g.71224052A= | CA2436388316 | GJB1 | c.345A= (p.Leu115=) | |
| X | g.71224052A>C | CA516820867 | GJB1 | c.345A>C (p.Leu115=) | |
| X | g.71224052A>G | CA516820868 | GJB1 | c.345A>G (p.Leu115=) | ClinVar dbSNP gnomAD v4 |
| X | g.71224052A>T | CA516820869 | GJB1 | c.345A>T (p.Leu115=) | dbSNP |
| X | g.71224052dup | CA2739273576 | GJB1 | c.345dup (p.His116ThrfsTer?) | ClinVar |
| X | g.71224053C>A | CA413501964 | GJB1 | c.346C>A (p.His116Asn) | gnomAD v4 |
| X | g.71224053C>G | CA413501965 | GJB1 | c.346C>G (p.His116Asp) | |
| X | g.71224053C>T | CA413501966 | GJB1 | c.346C>T (p.His116Tyr) | |
| X | g.71224054A>C | CA413501967 | GJB1 | c.347A>C (p.His116Pro) | |
| X | g.71224054A>G | CA413501968 | GJB1 | c.347A>G (p.His116Arg) | |
| X | g.71224054A>T | CA413501969 | GJB1 | c.347A>T (p.His116Leu) | |
| X | g.71224055C>A | CA413501970 | GJB1 | c.348C>A (p.His116Gln) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224055C= | CA2436388317 | GJB1 | c.348C= (p.His116=) | |
| X | g.71224055C>G | CA413501971 | GJB1 | c.348C>G (p.His116Gln) | |
| X | g.71224055C>T | CA516820870 | GJB1 | c.348C>T (p.His116=) | dbSNP gnomAD v4 |
| X | g.71224056C>A | CA413501972 | GJB1 | c.349C>A (p.Leu117Met) | dbSNP gnomAD v4 |
| X | g.71224056C= | CA2436388318 | GJB1 | c.349C= (p.Leu117=) | |
| X | g.71224056C>G | CA413501973 | GJB1 | c.349C>G (p.Leu117Val) | |
| X | g.71224056C>T | CA516820871 | GJB1 | c.349C>T (p.Leu117=) | |
| X | g.71224057T>A | CA413501975 | GJB1 | c.350T>A (p.Leu117Gln) | |
| X | g.71224057T>C | CA413501977 | GJB1 | c.350T>C (p.Leu117Pro) | |
| X | g.71224057T>G | CA413501978 | GJB1 | c.350T>G (p.Leu117Arg) | |
| X | g.71224058G>A | CA516820872 | GJB1 | c.351G>A (p.Leu117=) | |
| X | g.71224058G>C | CA516820873 | GJB1 | c.351G>C (p.Leu117=) | |
| X | g.71224058G>T | CA516820874 | GJB1 | c.351G>T (p.Leu117=) | |
| X | g.71224059del | CA2821723721 | GJB1 | c.352del (p.Glu118ArgfsTer3) | |
| X | g.71224059G>A | CA413501980 | GJB1 | c.352G>A (p.Glu118Lys) | |
| X | g.71224059G>C | CA413501983 | GJB1 | c.352G>C (p.Glu118Gln) | |
| X | g.71224059G>T | CA413501981 | GJB1 | c.352G>T (p.Glu118Ter) | |
| X | g.71224060A>C | CA413501984 | GJB1 | c.353A>C (p.Glu118Ala) | |
| X | g.71224060A>G | CA413501986 | GJB1 | c.353A>G (p.Glu118Gly) | |
| X | g.71224060A>T | CA413501988 | GJB1 | c.353A>T (p.Glu118Val) | |
| X | g.71224061G>A | CA516820875 | GJB1 | c.354G>A (p.Glu118=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224061G>C | CA413501989 | GJB1 | c.354G>C (p.Glu118Asp) | |
| X | g.71224061G= | CA2436388319 | GJB1 | c.354G= (p.Glu118=) | |
| X | g.71224061G>T | CA413501991 | GJB1 | c.354G>T (p.Glu118Asp) | |
| X | g.71224062G>A | CA413501993 | GJB1 | c.355G>A (p.Glu119Lys) | |
| X | g.71224062G>C | CA413501994 | GJB1 | c.355G>C (p.Glu119Gln) | |
| X | g.71224062G= | CA2436388320 | GJB1 | c.355G= (p.Glu119=) | |
| X | g.71224062G>T | CA413501996 | GJB1 | c.355G>T (p.Glu119Ter) | ClinVar dbSNP |
| X | g.71224063A>C | CA413501998 | GJB1 | c.356A>C (p.Glu119Ala) | |
| X | g.71224063A>G | CA413502000 | GJB1 | c.356A>G (p.Glu119Gly) | |
| X | g.71224063A>T | CA413502001 | GJB1 | c.356A>T (p.Glu119Val) | |
| X | g.71224063_71224066delinsAGGT | CA2436388321 | GJB1 | c.356_359delinsAGGT (p.Glu119=) | |
| X | g.71224064G>A | CA516820876 | GJB1 | c.357G>A (p.Glu119=) | |
| X | g.71224064G>C | CA413502005 | GJB1 | c.357G>C (p.Glu119Asp) | |
| X | g.71224064G>T | CA413502003 | GJB1 | c.357G>T (p.Glu119Asp) | |
| X | g.71224065_71224067del | CA915951195 | GJB1 | c.358_360del (p.Val120del) | ClinVar dbSNP |
| X | g.71224065G>A | CA413502009 | GJB1 | c.358G>A (p.Val120Met) | COSMIC |
| X | g.71224065G>C | CA413502012 | GJB1 | c.358G>C (p.Val120Leu) | |
| X | g.71224065G>T | CA413502010 | GJB1 | c.358G>T (p.Val120Leu) | |
| X | g.71224066T>A | CA413502014 | GJB1 | c.359T>A (p.Val120Glu) | ClinVar dbSNP |
| X | g.71224066T>C | CA413502016 | GJB1 | c.359T>C (p.Val120Ala) | gnomAD v4 |
| X | g.71224066T>G | CA330997742 | GJB1 | c.359T>G (p.Val120Gly) | dbSNP gnomAD v4 |
| X | g.71224066T= | CA2436388322 | GJB1 | c.359T= (p.Val120=) | |
| X | g.71224067G>A | CA10445297 | GJB1 | c.360G>A (p.Val120=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224067G>C | CA516820877 | GJB1 | c.360G>C (p.Val120=) | |
| X | g.71224067G= | CA2436388323 | GJB1 | c.360G= (p.Val120=) | |
| X | g.71224067G>T | CA516820878 | GJB1 | c.360G>T (p.Val120=) | |
| X | g.71224067_71224076delinsGAAGAGGCAC | CA2436388324 | GJB1 | c.360_369delinsGAAGAGGCAC (p.Val120=) | |
| X | g.71224068A>C | CA413502020 | GJB1 | c.361A>C (p.Lys121Gln) | |
| X | g.71224068A>G | CA413502021 | GJB1 | c.361A>G (p.Lys121Glu) | |
| X | g.71224068A>T | CA413502022 | GJB1 | c.361A>T (p.Lys121Ter) | |
| X | g.71224069del | CA2524982132 | GJB1 | c.362del (p.Lys121ArgfsTer?) | |
| X | g.71224071_71224079del | CA658659011 | GJB1 | c.364_372del (p.Arg122_Lys124del) | ClinVar dbSNP |
| X | g.71224069A>C | CA413502024 | GJB1 | c.362A>C (p.Lys121Thr) | |
| X | g.71224069A>G | CA413502025 | GJB1 | c.362A>G (p.Lys121Arg) | gnomAD v4 |
| X | g.71224069A>T | CA413502027 | GJB1 | c.362A>T (p.Lys121Met) | |
| X | g.71224070G>A | CA516820879 | GJB1 | c.363G>A (p.Lys121=) | ClinVar dbSNP gnomAD v4 |
| X | g.71224070G>C | CA413502028 | GJB1 | c.363G>C (p.Lys121Asn) | |
| X | g.71224070G= | CA2436388325 | GJB1 | c.363G= (p.Lys121=) | |
| X | g.71224070G>T | CA413502030 | GJB1 | c.363G>T (p.Lys121Asn) | |
| X | g.71224071A>C | CA516820880 | GJB1 | c.364A>C (p.Arg122=) | ClinVar |
| X | g.71224071A>G | CA413502031 | GJB1 | c.364A>G (p.Arg122Gly) | |
| X | g.71224071A>T | CA413502033 | GJB1 | c.364A>T (p.Arg122Trp) | |
| X | g.71224072G>A | CA413502034 | GJB1 | c.365G>A (p.Arg122Lys) | |
| X | g.71224072G>C | CA413502036 | GJB1 | c.365G>C (p.Arg122Thr) | |
| X | g.71224072G>T | CA413502038 | GJB1 | c.365G>T (p.Arg122Met) | |
| X | g.71224073G>A | CA516820881 | GJB1 | c.366G>A (p.Arg122=) | dbSNP |
| X | g.71224073G>C | CA413502039 | GJB1 | c.366G>C (p.Arg122Ser) | |
| X | g.71224073G= | CA2436388326 | GJB1 | c.366G= (p.Arg122=) | |
| X | g.71224073G>T | CA413502041 | GJB1 | c.366G>T (p.Arg122Ser) | |
| X | g.71224074C>A | CA413502043 | GJB1 | c.367C>A (p.His123Asn) | gnomAD v4 |
| X | g.71224074C>G | CA413502045 | GJB1 | c.367C>G (p.His123Asp) | |
| X | g.71224074C>T | CA413502046 | GJB1 | c.367C>T (p.His123Tyr) | |
| X | g.71224075A>C | CA413502048 | GJB1 | c.368A>C (p.His123Pro) | |
| X | g.71224075A>G | CA413502049 | GJB1 | c.368A>G (p.His123Arg) | |
| X | g.71224075A>T | CA413502051 | GJB1 | c.368A>T (p.His123Leu) | |
| X | g.71224076C>A | CA413502054 | GJB1 | c.369C>A (p.His123Gln) | ClinVar |
| X | g.71224076C>G | CA413502055 | GJB1 | c.369C>G (p.His123Gln) | |
| X | g.71224076C>T | CA516820882 | GJB1 | c.369C>T (p.His123=) | |
| X | g.71224076_71224077delinsCA | CA2436388327 | GJB1 | c.369_370delinsCA (p.His123=) | |
| X | g.71224077A= | CA2436388328 | GJB1 | c.370A= (p.Lys124=) | |
| X | g.71224077A>C | CA413502060 | GJB1 | c.370A>C (p.Lys124Gln) | |
| X | g.71224077A>G | CA413502056 | GJB1 | c.370A>G (p.Lys124Glu) | ClinVar dbSNP |
| X | g.71224077A>T | CA413502058 | GJB1 | c.370A>T (p.Lys124Ter) | |
| X | g.71224078del | CA915951196 | GJB1 | c.371del (p.Lys124ArgfsTer?) | ClinVar dbSNP |
| X | g.71224078A>C | CA413502062 | GJB1 | c.371A>C (p.Lys124Thr) | |
| X | g.71224078A>G | CA413502063 | GJB1 | c.371A>G (p.Lys124Arg) | |
| X | g.71224078A>T | CA413502065 | GJB1 | c.371A>T (p.Lys124Met) | |
| X | g.71224078_71224084delinsTCTTCACCT | CA2739273577 | GJB1 | c.371_377delinsTCTTCACCT (p.Lys124IlefsTer?) | ClinVar |
| X | g.71224079G>A | CA516820883 | GJB1 | c.372G>A (p.Lys124=) | dbSNP |
| X | g.71224079G>C | CA10577658 | GJB1 | c.372G>C (p.Lys124Asn) | ClinVar dbSNP |
| X | g.71224079G= | CA2436388329 | GJB1 | c.372G= (p.Lys124=) | |
| X | g.71224079G>T | CA413502068 | GJB1 | c.372G>T (p.Lys124Asn) | ClinVar |
| X | g.71224080G>A | CA413502072 | GJB1 | c.373G>A (p.Val125Ile) | |
| X | g.71224080G>C | CA413502070 | GJB1 | c.373G>C (p.Val125Leu) | |
| X | g.71224080G>T | CA413502069 | GJB1 | c.373G>T (p.Val125Phe) | |
| X | g.71224081T>A | CA413502074 | GJB1 | c.374T>A (p.Val125Asp) | ClinVar dbSNP |
| X | g.71224081T>C | CA413502075 | GJB1 | c.374T>C (p.Val125Ala) | |
| X | g.71224081T>G | CA413502077 | GJB1 | c.374T>G (p.Val125Gly) | ClinVar dbSNP |
| X | g.71224081T= | CA2436388330 | GJB1 | c.374T= (p.Val125=) | |
| X | g.71224082C>A | CA516820884 | GJB1 | c.375C>A (p.Val125=) | |
| X | g.71224082C= | CA2436388331 | GJB1 | c.375C= (p.Val125=) | |
| X | g.71224082C>G | CA516820885 | GJB1 | c.375C>G (p.Val125=) | gnomAD v4 |
| X | g.71224082C>T | CA516820886 | GJB1 | c.375C>T (p.Val125=) | ClinVar dbSNP |
| X | g.71224082_71224083insAC | CA2499226844 | GJB1 | c.375_376insAC (p.His126ThrfsTer?) | dbSNP |
| X | g.71224083C>A | CA413502079 | GJB1 | c.376C>A (p.His126Asn) | |
| X | g.71224083C= | CA2436388332 | GJB1 | c.376C= (p.His126=) | |
| X | g.71224083C>G | CA413502081 | GJB1 | c.376C>G (p.His126Asp) | |
| X | g.71224083C>T | CA10584639 | GJB1 | c.376C>T (p.His126Tyr) | ClinVar dbSNP gnomAD v4 |
| X | g.71224084A>C | CA413502086 | GJB1 | c.377A>C (p.His126Pro) | |
| X | g.71224084A>G | CA413502082 | GJB1 | c.377A>G (p.His126Arg) | |
| X | g.71224084A>T | CA413502084 | GJB1 | c.377A>T (p.His126Leu) | |
| X | g.71224085C>A | CA413502088 | GJB1 | c.378C>A (p.His126Gln) | |
| X | g.71224085C>G | CA413502089 | GJB1 | c.378C>G (p.His126Gln) | |
| X | g.71224085C>T | CA516820887 | GJB1 | c.378C>T (p.His126=) | ClinVar dbSNP |
| X | g.71224086A= | CA2436388333 | GJB1 | c.379A= (p.Ile127=) | |
| X | g.71224086A>C | CA413502090 | GJB1 | c.379A>C (p.Ile127Leu) | |
| X | g.71224086A>G | CA413502092 | GJB1 | c.379A>G (p.Ile127Val) | |
| X | g.71224086A>T | CA413502094 | GJB1 | c.379A>T (p.Ile127Phe) | ClinVar dbSNP |
| X | g.71224087T>A | CA413502095 | GJB1 | c.380T>A (p.Ile127Asn) | ClinVar dbSNP |
| X | g.71224087T>C | CA413502096 | GJB1 | c.380T>C (p.Ile127Thr) | |
| X | g.71224087T>G | CA413502098 | GJB1 | c.380T>G (p.Ile127Ser) | ClinVar dbSNP |
| X | g.71224087T= | CA2436388334 | GJB1 | c.380T= (p.Ile127=) | |
| X | g.71224088C>A | CA516820888 | GJB1 | c.381C>A (p.Ile127=) | |
| X | g.71224088C= | CA2436388335 | GJB1 | c.381C= (p.Ile127=) | |
| X | g.71224088C>G | CA413502100 | GJB1 | c.381C>G (p.Ile127Met) | ClinVar dbSNP |
| X | g.71224088C>T | CA516820889 | GJB1 | c.381C>T (p.Ile127=) | |
| X | g.71224089T>A | CA413502102 | GJB1 | c.382T>A (p.Ser128Thr) | |
| X | g.71224089T>C | CA413502103 | GJB1 | c.382T>C (p.Ser128Pro) | ClinVar dbSNP |
| X | g.71224089T>G | CA413502104 | GJB1 | c.382T>G (p.Ser128Ala) | |
| X | g.71224089T= | CA2436388336 | GJB1 | c.382T= (p.Ser128=) | |
| X | g.71224090C>A | CA413502105 | GJB1 | c.383C>A (p.Ser128Ter) | ClinVar dbSNP |
| X | g.71224090C= | CA2436388337 | GJB1 | c.383C= (p.Ser128=) | |
| X | g.71224090C>G | CA413502108 | GJB1 | c.383C>G (p.Ser128Ter) | ClinVar dbSNP |
| X | g.71224090C>T | CA413502106 | GJB1 | c.383C>T (p.Ser128Leu) | ClinVar dbSNP |
| X | g.71224091A= | CA2436388338 | GJB1 | c.384A= (p.Ser128=) | |
| X | g.71224091A>C | CA516820891 | GJB1 | c.384A>C (p.Ser128=) | |
| X | g.71224091A>G | CA10445298 | GJB1 | c.384A>G (p.Ser128=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224091A>T | CA516820890 | GJB1 | c.384A>T (p.Ser128=) | |
| X | g.71224092G>A | CA413502113 | GJB1 | c.385G>A (p.Gly129Arg) | |
| X | g.71224092G>C | CA413502110 | GJB1 | c.385G>C (p.Gly129Arg) | |
| X | g.71224092G>T | CA413502111 | GJB1 | c.385G>T (p.Gly129Trp) | |
| X | g.71224093G>A | CA413502116 | GJB1 | c.386G>A (p.Gly129Glu) | ClinVar dbSNP |
| X | g.71224093G>C | CA413502118 | GJB1 | c.386G>C (p.Gly129Ala) | |
| X | g.71224093G= | CA2436388339 | GJB1 | c.386G= (p.Gly129=) | |
| X | g.71224093G>T | CA413502119 | GJB1 | c.386G>T (p.Gly129Val) | |
| X | g.71224094G>A | CA516820894 | GJB1 | c.387G>A (p.Gly129=) | |
| X | g.71224094G>C | CA516820893 | GJB1 | c.387G>C (p.Gly129=) | |
| X | g.71224094G>T | CA516820892 | GJB1 | c.387G>T (p.Gly129=) | gnomAD v4 |
| X | g.71224095A>C | CA413502121 | GJB1 | c.388A>C (p.Thr130Pro) | |
| X | g.71224095A>G | CA413502122 | GJB1 | c.388A>G (p.Thr130Ala) | ClinVar |
| X | g.71224095A>T | CA413502125 | GJB1 | c.388A>T (p.Thr130Ser) | |
| X | g.71224096C>A | CA413502127 | GJB1 | c.389C>A (p.Thr130Lys) | |
| X | g.71224096C= | CA2436388340 | GJB1 | c.389C= (p.Thr130=) | |
| X | g.71224096C>G | CA413502129 | GJB1 | c.389C>G (p.Thr130Arg) | |
| X | g.71224096C>T | CA413502132 | GJB1 | c.389C>T (p.Thr130Ile) | ClinVar dbSNP |
| X | g.71224097A>C | CA516820895 | GJB1 | c.390A>C (p.Thr130=) | |
| X | g.71224097A>G | CA516820897 | GJB1 | c.390A>G (p.Thr130=) | |
| X | g.71224097A>T | CA516820896 | GJB1 | c.390A>T (p.Thr130=) | |
| X | g.71224098C>A | CA413502136 | GJB1 | c.391C>A (p.Leu131Met) | |
| X | g.71224098C>G | CA413502138 | GJB1 | c.391C>G (p.Leu131Val) | ClinVar dbSNP |
| X | g.71224098C>T | CA516820898 | GJB1 | c.391C>T (p.Leu131=) | gnomAD v4 |
| X | g.71224098_71224100delinsCTG | CA2436388341 | GJB1 | c.391_393delinsCTG (p.Leu131=) | |
| X | g.71224099T>A | CA413502150 | GJB1 | c.392T>A (p.Leu131Gln) | |
| X | g.71224099T>C | CA413502149 | GJB1 | c.392T>C (p.Leu131Pro) | ClinVar dbSNP |
| X | g.71224099T>G | CA413502146 | GJB1 | c.392T>G (p.Leu131Arg) | ClinVar dbSNP |
| X | g.71224099T= | CA2436388342 | GJB1 | c.392T= (p.Leu131=) | |
| X | g.71224101_71224102del | CA658799793 | GJB1 | c.394_395del (p.Trp132ValfsTer14) | ClinVar dbSNP |
| X | g.71224100G>A | CA516820899 | GJB1 | c.393G>A (p.Leu131=) | ClinVar dbSNP gnomAD v4 |
| X | g.71224100G>C | CA516820900 | GJB1 | c.393G>C (p.Leu131=) | |
| X | g.71224100G= | CA2436388343 | GJB1 | c.393G= (p.Leu131=) | |
| X | g.71224100G>T | CA516820901 | GJB1 | c.393G>T (p.Leu131=) | |
| X | g.71224101T>A | CA413502153 | GJB1 | c.394T>A (p.Trp132Arg) | |
| X | g.71224101T>C | CA413502154 | GJB1 | c.394T>C (p.Trp132Arg) | ClinVar dbSNP |
| X | g.71224101T>G | CA413502157 | GJB1 | c.394T>G (p.Trp132Gly) | ClinVar dbSNP |
| X | g.71224101T= | CA2436388345 | GJB1 | c.394T= (p.Trp132=) | |
| X | g.71224101_71224102delinsTG | CA2436388344 | GJB1 | c.394_395delinsTG (p.Trp132=) | |
| X | g.71224102G>A | CA413502158 | GJB1 | c.395G>A (p.Trp132Ter) | ClinVar dbSNP |
| X | g.71224102G>C | CA413502160 | GJB1 | c.395G>C (p.Trp132Ser) | |
| X | g.71224102G>T | CA413502162 | GJB1 | c.395G>T (p.Trp132Leu) | |
| X | g.71224103del | CA10584640 | GJB1 | c.396del (p.Trp132CysfsTer?) | ClinVar dbSNP |
| X | g.71224103G>A | CA413502168 | GJB1 | c.396G>A (p.Trp132Ter) | ClinVar dbSNP |
| X | g.71224103G>C | CA413502169 | GJB1 | c.396G>C (p.Trp132Cys) | |
| X | g.71224103G= | CA2436388346 | GJB1 | c.396G= (p.Trp132=) | |
| X | g.71224103G>T | CA413502172 | GJB1 | c.396G>T (p.Trp132Cys) | |
| X | g.71224103_71224104delinsGT | CA2436388347 | GJB1 | c.396_397delinsGT (p.Trp132=) | |
| X | g.71224104del | CA915951197 | GJB1 | c.397del (p.Trp133GlyfsTer?) | ClinVar dbSNP |
| X | g.71224104T>A | CA413502175 | GJB1 | c.397T>A (p.Trp133Arg) | |
| X | g.71224104T>C | CA255235 | GJB1 | c.397T>C (p.Trp133Arg) | ClinVar dbSNP |
| X | g.71224104T>G | CA413502180 | GJB1 | c.397T>G (p.Trp133Gly) | |
| X | g.71224104T= | CA2436388348 | GJB1 | c.397T= (p.Trp133=) | |
| X | g.71224105G>A | CA413502186 | GJB1 | c.398G>A (p.Trp133Ter) | COSMIC |
| X | g.71224105G>C | CA413502188 | GJB1 | c.398G>C (p.Trp133Ser) | |
| X | g.71224105G>T | CA413502183 | GJB1 | c.398G>T (p.Trp133Leu) | |
| X | g.71224106G>A | CA413502190 | GJB1 | c.399G>A (p.Trp133Ter) | ClinVar dbSNP |
| X | g.71224106G>C | CA413502191 | GJB1 | c.399G>C (p.Trp133Cys) | |
| X | g.71224106G= | CA2436388349 | GJB1 | c.399G= (p.Trp133=) | |
| X | g.71224106G>T | CA413502192 | GJB1 | c.399G>T (p.Trp133Cys) | ClinVar dbSNP |
| X | g.71224107A>C | CA413502195 | GJB1 | c.400A>C (p.Thr134Pro) | |
| X | g.71224107A>G | CA413502198 | GJB1 | c.400A>G (p.Thr134Ala) | |
| X | g.71224107A>T | CA413502200 | GJB1 | c.400A>T (p.Thr134Ser) | |
| X | g.71224108C>A | CA413502203 | GJB1 | c.401C>A (p.Thr134Asn) | |
| X | g.71224108C>G | CA413502206 | GJB1 | c.401C>G (p.Thr134Ser) | |
| X | g.71224108C>T | CA413502213 | GJB1 | c.401C>T (p.Thr134Ile) | |
| X | g.71224109del | CA2695234564 | GJB1 | c.402del (p.Tyr135MetfsTer?) | |
| X | g.71224109C>A | CA516820902 | GJB1 | c.402C>A (p.Thr134=) | gnomAD v4 |
| X | g.71224109C= | CA2436388350 | GJB1 | c.402C= (p.Thr134=) | |
| X | g.71224109C>G | CA516820903 | GJB1 | c.402C>G (p.Thr134=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224109C>T | CA516820904 | GJB1 | c.402C>T (p.Thr134=) | |
| X | g.71224110T>A | CA413502220 | GJB1 | c.403T>A (p.Tyr135Asn) | |
| X | g.71224110T>C | CA413502223 | GJB1 | c.403T>C (p.Tyr135His) | |
| X | g.71224110T>G | CA413502226 | GJB1 | c.403T>G (p.Tyr135Asp) | |
| X | g.71224110dup | CA2695234566 | GJB1 | c.403dup (p.Tyr135LeufsTer12) | |
| X | g.71224111_71224112del | CA2695234565 | GJB1 | c.404_405del (p.Tyr135CysfsTer11) | |
| X | g.71224111A= | CA2436388351 | GJB1 | c.404A= (p.Tyr135=) | |
| X | g.71224111A>C | CA413502233 | GJB1 | c.404A>C (p.Tyr135Ser) | |
| X | g.71224111A>G | CA413502229 | GJB1 | c.404A>G (p.Tyr135Cys) | ClinVar dbSNP |
| X | g.71224111A>T | CA413502231 | GJB1 | c.404A>T (p.Tyr135Phe) | |
| X | g.71224112T>A | CA413502237 | GJB1 | c.405T>A (p.Tyr135Ter) | |
| X | g.71224112T>C | CA516820905 | GJB1 | c.405T>C (p.Tyr135=) | ClinVar |
| X | g.71224112T>G | CA413502239 | GJB1 | c.405T>G (p.Tyr135Ter) | |
| X | g.71224113_71224114dup | CA2580612285 | GJB1 | c.406_407dup (p.Ile137SerfsTer?) | ClinVar |
| X | g.71224113G>A | CA413502242 | GJB1 | c.406G>A (p.Val136Ile) | |
| X | g.71224113G>C | CA413502245 | GJB1 | c.406G>C (p.Val136Leu) | |
| X | g.71224113G>T | CA413502247 | GJB1 | c.406G>T (p.Val136Phe) | COSMIC |
| X | g.71224114T>A | CA413502249 | GJB1 | c.407T>A (p.Val136Asp) | |
| X | g.71224114T>C | CA121071 | GJB1 | c.407T>C (p.Val136Ala) | ClinVar dbSNP |
| X | g.71224114T>G | CA413502257 | GJB1 | c.407T>G (p.Val136Gly) | |
| X | g.71224114T= | CA2436388352 | GJB1 | c.407T= (p.Val136=) | |
| X | g.71224115C>A | CA516820906 | GJB1 | c.408C>A (p.Val136=) | |
| X | g.71224115C>G | CA516820907 | GJB1 | c.408C>G (p.Val136=) | |
| X | g.71224115C>T | CA516820908 | GJB1 | c.408C>T (p.Val136=) | gnomAD v4 |
| X | g.71224116A>C | CA413502260 | GJB1 | c.409A>C (p.Ile137Leu) | |
| X | g.71224116A>G | CA413502262 | GJB1 | c.409A>G (p.Ile137Val) | ClinVar |
| X | g.71224116A>T | CA413502268 | GJB1 | c.409A>T (p.Ile137Phe) | |
| X | g.71224116_71224117delinsAT | CA2436388353 | GJB1 | c.409_410delinsAT (p.Ile137=) | |
| X | g.71224117del | CA915951198 | GJB1 | c.410del (p.Ile137ThrfsTer?) | ClinVar dbSNP |
| X | g.71224117T>A | CA413502277 | GJB1 | c.410T>A (p.Ile137Asn) | |
| X | g.71224117T>C | CA413502279 | GJB1 | c.410T>C (p.Ile137Thr) | |
| X | g.71224117T>G | CA413502276 | GJB1 | c.410T>G (p.Ile137Ser) | |
| X | g.71224118C>A | CA516820909 | GJB1 | c.411C>A (p.Ile137=) | |
| X | g.71224118C>G | CA413502282 | GJB1 | c.411C>G (p.Ile137Met) | |
| X | g.71224118C>T | CA516820910 | GJB1 | c.411C>T (p.Ile137=) | |
| X | g.71224119A>C | CA413502284 | GJB1 | c.412A>C (p.Ser138Arg) | |
| X | g.71224119A>G | CA413502285 | GJB1 | c.412A>G (p.Ser138Gly) | ClinVar |
| X | g.71224119A>T | CA413502288 | GJB1 | c.412A>T (p.Ser138Cys) | |
| X | g.71224120G>A | CA413502291 | GJB1 | c.413G>A (p.Ser138Asn) | ClinVar dbSNP |
| X | g.71224120G>C | CA413502293 | GJB1 | c.413G>C (p.Ser138Thr) | ClinVar |
| X | g.71224120G= | CA2436388354 | GJB1 | c.413G= (p.Ser138=) | |
| X | g.71224120G>T | CA413502294 | GJB1 | c.413G>T (p.Ser138Ile) | dbSNP |