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.71224215_71224258dup | CA1139667646 | GJB1 | c.508_551dup (p.Thr185SerfsTer26) | ClinVar dbSNP |
| X | g.71224233_71224262dup | CA16621492 | GJB1 | c.526_555dup (p.Thr185_Glu186insThrValAspCysPheValSerArgProThr) | ClinVar dbSNP |
| X | g.71224249T>A | CA10577659 | GJB1 | c.542T>A (p.Val181Glu) | ClinVar dbSNP |
| X | g.71224249T>C | CA413503078 | GJB1 | c.542T>C (p.Val181Ala) | ClinVar dbSNP |
| X | g.71224249T>G | CA413503080 | GJB1 | c.542T>G (p.Val181Gly) | |
| X | g.71224249T= | CA2436388446 | GJB1 | c.542T= (p.Val181=) | |
| X | g.71224249_71224254del | CA1134115392 | GJB1 | c.542_547del (p.Val181_Arg183delinsGly) | gnomAD v3 gnomAD v4 |
| X | g.71224250G>A | CA516821139 | GJB1 | c.543G>A (p.Val181=) | |
| X | g.71224250G>C | CA516821138 | GJB1 | c.543G>C (p.Val181=) | |
| X | g.71224250G>T | CA516821136 | GJB1 | c.543G>T (p.Val181=) | |
| X | g.71224251T>A | CA413503088 | GJB1 | c.544T>A (p.Ser182Thr) | ClinVar dbSNP |
| X | g.71224251T>C | CA413503089 | GJB1 | c.544T>C (p.Ser182Pro) | |
| X | g.71224251T>G | CA413503093 | GJB1 | c.544T>G (p.Ser182Ala) | |
| X | g.71224251T= | CA2436388447 | GJB1 | c.544T= (p.Ser182=) | |
| X | g.71224252C>A | CA413503100 | GJB1 | c.545C>A (p.Ser182Tyr) | gnomAD v4 |
| X | g.71224252C= | CA2436388448 | GJB1 | c.545C= (p.Ser182=) | |
| X | g.71224252C>G | CA413503098 | GJB1 | c.545C>G (p.Ser182Cys) | ClinVar dbSNP |
| X | g.71224252C>T | CA413503096 | GJB1 | c.545C>T (p.Ser182Phe) | ClinVar dbSNP |
| X | g.71224254del | CA2694032256 | GJB1 | c.547del (p.Arg183AlafsTer13) | gnomAD v4 |
| X | g.71224253C>A | CA516821146 | GJB1 | c.546C>A (p.Ser182=) | gnomAD v4 |
| X | g.71224253C= | CA2436388449 | GJB1 | c.546C= (p.Ser182=) | |
| X | g.71224253C>G | CA516821147 | GJB1 | c.546C>G (p.Ser182=) | |
| X | g.71224253C>T | CA10445314 | GJB1 | c.546C>T (p.Ser182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224254C>A | CA413503107 | GJB1 | c.547C>A (p.Arg183Ser) | ClinVar dbSNP gnomAD v4 |
| X | g.71224254C= | CA2436388450 | GJB1 | c.547C= (p.Arg183=) | |
| X | g.71224254C>G | CA413503106 | GJB1 | c.547C>G (p.Arg183Gly) | |
| X | g.71224254C>T | CA336920 | GJB1 | c.547C>T (p.Arg183Cys) | ClinVar dbSNP gnomAD v4 |
| X | g.71224254_71224255delinsTT | CA2695234570 | GJB1 | c.547_548delinsTT (p.Arg183Phe) | |
| X | g.71224255G>A | CA413503111 | GJB1 | c.548G>A (p.Arg183His) | ClinVar dbSNP gnomAD v4 |
| X | g.71224255G>C | CA413503117 | GJB1 | c.548G>C (p.Arg183Pro) | ClinVar dbSNP |
| X | g.71224255G= | CA2436388451 | GJB1 | c.548G= (p.Arg183=) | |
| X | g.71224255G>T | CA413503114 | GJB1 | c.548G>T (p.Arg183Leu) | gnomAD v4 |
| X | g.71224256C>A | CA516821153 | GJB1 | c.549C>A (p.Arg183=) | gnomAD v4 |
| X | g.71224256C>G | CA516821155 | GJB1 | c.549C>G (p.Arg183=) | gnomAD v3 gnomAD v4 |
| X | g.71224256C>T | CA516821156 | GJB1 | c.549C>T (p.Arg183=) | gnomAD v4 |
| X | g.71224259del | CA2695234571 | GJB1 | c.552del (p.Thr185ProfsTer11) | |
| X | g.71224256_71224257insG | CA1134115405 | GJB1 | c.549_550insG (p.Pro184AlafsTer?) | gnomAD v3 gnomAD v4 |
| X | g.71224257C>A | CA413503119 | GJB1 | c.550C>A (p.Pro184Thr) | gnomAD v3 gnomAD v4 |
| X | g.71224257C>G | CA413503125 | GJB1 | c.550C>G (p.Pro184Ala) | gnomAD v4 |
| X | g.71224257C>T | CA413503122 | GJB1 | c.550C>T (p.Pro184Ser) | |
| X | g.71224257_71224260delinsCCCA | CA2436388452 | GJB1 | c.550_553delinsCCCA (p.Pro184=) | |
| X | g.71224258C>A | CA413503129 | GJB1 | c.551C>A (p.Pro184His) | gnomAD v4 |
| X | g.71224258C= | CA2436388453 | GJB1 | c.551C= (p.Pro184=) | |
| X | g.71224258C>G | CA413503130 | GJB1 | c.551C>G (p.Pro184Arg) | ClinVar dbSNP |
| X | g.71224258C>T | CA413503133 | GJB1 | c.551C>T (p.Pro184Leu) | |
| X | g.71224260_71224262del | CA915951210 | GJB1 | c.553_555del (p.Thr185del) | ClinVar dbSNP |
| X | g.71224259C>A | CA516821159 | GJB1 | c.552C>A (p.Pro184=) | gnomAD v4 |
| X | g.71224259C>G | CA516821161 | GJB1 | c.552C>G (p.Pro184=) | |
| X | g.71224259C>T | CA516821162 | GJB1 | c.552C>T (p.Pro184=) | gnomAD v4 |
| X | g.71224260A>C | CA413503138 | GJB1 | c.553A>C (p.Thr185Pro) | |
| X | g.71224260A>G | CA413503140 | GJB1 | c.553A>G (p.Thr185Ala) | |
| X | g.71224260A>T | CA413503142 | GJB1 | c.553A>T (p.Thr185Ser) | |
| X | g.71224261C>A | CA413503145 | GJB1 | c.554C>A (p.Thr185Asn) | |
| X | g.71224261C>G | CA413503148 | GJB1 | c.554C>G (p.Thr185Ser) | |
| X | g.71224261C>T | CA413503150 | GJB1 | c.554C>T (p.Thr185Ile) | ClinVar gnomAD v4 |
| X | g.71224262C>A | CA516821169 | GJB1 | c.555C>A (p.Thr185=) | gnomAD v4 COSMIC |
| X | g.71224262C= | CA2436388454 | GJB1 | c.555C= (p.Thr185=) | |
| X | g.71224262C>G | CA516821170 | GJB1 | c.555C>G (p.Thr185=) | |
| X | g.71224262C>T | CA516821171 | GJB1 | c.555C>T (p.Thr185=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224263G>A | CA341609 | GJB1 | c.556G>A (p.Glu186Lys) | ClinVar dbSNP |
| X | g.71224263G>C | CA413503153 | GJB1 | c.556G>C (p.Glu186Gln) | |
| X | g.71224263G= | CA2436388455 | GJB1 | c.556G= (p.Glu186=) | |
| X | g.71224263G>T | CA10577663 | GJB1 | c.556G>T (p.Glu186Ter) | ClinVar dbSNP gnomAD v4 |
| X | g.71224263dup | CA915951211 | GJB1 | c.556dup (p.Glu186GlyfsTer?) | ClinVar dbSNP |
| X | g.71224264A= | CA2436388456 | GJB1 | c.557A= (p.Glu186=) | |
| X | g.71224264A>C | CA413503161 | GJB1 | c.557A>C (p.Glu186Ala) | |
| X | g.71224264A>G | CA413503159 | GJB1 | c.557A>G (p.Glu186Gly) | |
| X | g.71224264A>T | CA413503158 | GJB1 | c.557A>T (p.Glu186Val) | ClinVar dbSNP |
| X | g.71224265G>A | CA516821177 | GJB1 | c.558G>A (p.Glu186=) | |
| X | g.71224265G>C | CA413503162 | GJB1 | c.558G>C (p.Glu186Asp) | |
| X | g.71224265G>T | CA413503164 | GJB1 | c.558G>T (p.Glu186Asp) | gnomAD v4 |
| X | g.71224266A= | CA2436388457 | GJB1 | c.559A= (p.Lys187=) | |
| X | g.71224266A>C | CA413503166 | GJB1 | c.559A>C (p.Lys187Gln) | |
| X | g.71224266A>G | CA413503167 | GJB1 | c.559A>G (p.Lys187Glu) | ClinVar dbSNP |
| X | g.71224266A>T | CA413503169 | GJB1 | c.559A>T (p.Lys187Ter) | |
| X | g.71224269dup | CA2580101383 | GJB1 | c.562dup (p.Thr188AsnfsTer?) | ClinVar |
| X | g.71224267A>C | CA413503170 | GJB1 | c.560A>C (p.Lys187Thr) | |
| X | g.71224267A>G | CA413503171 | GJB1 | c.560A>G (p.Lys187Arg) | |
| X | g.71224267A>T | CA413503172 | GJB1 | c.560A>T (p.Lys187Ile) | |
| X | g.71224268A>C | CA413503173 | GJB1 | c.561A>C (p.Lys187Asn) | |
| X | g.71224268A>G | CA516821182 | GJB1 | c.561A>G (p.Lys187=) | |
| X | g.71224268A>T | CA413503174 | GJB1 | c.561A>T (p.Lys187Asn) | |
| X | g.71224268_71224276dup | CA2695234572 | GJB1 | c.561_569dup (p.Val189_Phe190insLeuThrVal) | |
| X | g.71224268_71224277delinsAACCGTCTTC | CA2436388458 | GJB1 | c.561_570delinsAACCGTCTTC (p.Lys187=) | |
| X | g.71224269A>C | CA413503178 | GJB1 | c.562A>C (p.Thr188Pro) | |
| X | g.71224269A>G | CA413503177 | GJB1 | c.562A>G (p.Thr188Ala) | |
| X | g.71224269A>T | CA413503176 | GJB1 | c.562A>T (p.Thr188Ser) | |
| X | g.71224279_71224287dup | CA341612 | GJB1 | c.572_580dup (p.Phe193_Met194insThrValPhe) | ClinVar dbSNP |
| X | g.71224279_71224287del | CA16616547 | GJB1 | c.572_580del (p.Thr191_Phe193del) | ClinVar dbSNP gnomAD v4 |
| X | g.71224270C>A | CA413503180 | GJB1 | c.563C>A (p.Thr188Asn) | |
| X | g.71224270C>G | CA413503182 | GJB1 | c.563C>G (p.Thr188Ser) | |
| X | g.71224270C>T | CA413503183 | GJB1 | c.563C>T (p.Thr188Ile) | |
| X | g.71224271C>A | CA516820920 | GJB1 | c.564C>A (p.Thr188=) | |
| X | g.71224271C= | CA2436388459 | GJB1 | c.564C= (p.Thr188=) | |
| X | g.71224271C>G | CA516820921 | GJB1 | c.564C>G (p.Thr188=) | ClinVar |
| X | g.71224271C>T | CA10445315 | GJB1 | c.564C>T (p.Thr188=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.71224272G>A | CA10445316 | GJB1 | c.565G>A (p.Val189Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.71224272G>C | CA413503188 | GJB1 | c.565G>C (p.Val189Leu) | |
| X | g.71224272G= | CA2436388460 | GJB1 | c.565G= (p.Val189=) | |
| X | g.71224272G>T | CA413503189 | GJB1 | c.565G>T (p.Val189Phe) | gnomAD v4 |
| X | g.71224273T>A | CA413503190 | GJB1 | c.566T>A (p.Val189Asp) | |
| X | g.71224273T>C | CA413503192 | GJB1 | c.566T>C (p.Val189Ala) | ClinVar |
| X | g.71224273T>G | CA16621493 | GJB1 | c.566T>G (p.Val189Gly) | ClinVar dbSNP |
| X | g.71224273T= | CA2436388461 | GJB1 | c.566T= (p.Val189=) | |
| X | g.71224274C>A | CA516820926 | GJB1 | c.567C>A (p.Val189=) | |
| X | g.71224274C>G | CA516820927 | GJB1 | c.567C>G (p.Val189=) | |
| X | g.71224274C>T | CA516820929 | GJB1 | c.567C>T (p.Val189=) | |
| X | g.71224275T>A | CA413503195 | GJB1 | c.568T>A (p.Phe190Ile) | |
| X | g.71224275T>C | CA413503196 | GJB1 | c.568T>C (p.Phe190Leu) | |
| X | g.71224275T>G | CA413503197 | GJB1 | c.568T>G (p.Phe190Val) | |
| X | g.71224275T= | CA2436388462 | GJB1 | c.568T= (p.Phe190=) | |
| X | g.71224276T>A | CA413503200 | GJB1 | c.569T>A (p.Phe190Tyr) | |
| X | g.71224276T>C | CA413503199 | GJB1 | c.569T>C (p.Phe190Ser) | |
| X | g.71224276T>G | CA413503198 | GJB1 | c.569T>G (p.Phe190Cys) | |
| X | g.71224276_71224278dup | CA891844222 | GJB1 | c.569_571dup (p.Phe190_Thr191insIle) | ClinVar dbSNP |
| X | g.71224277C>A | CA413503201 | GJB1 | c.570C>A (p.Phe190Leu) | |
| X | g.71224277C= | CA2436388463 | GJB1 | c.570C= (p.Phe190=) | |
| X | g.71224277C>G | CA413503202 | GJB1 | c.570C>G (p.Phe190Leu) | |
| X | g.71224277C>T | CA516820934 | GJB1 | c.570C>T (p.Phe190=) | |
| X | g.71224278A= | CA2436388464 | GJB1 | c.571A= (p.Thr191=) | |
| X | g.71224278A>C | CA413503203 | GJB1 | c.571A>C (p.Thr191Pro) | |
| X | g.71224278A>G | CA413503204 | GJB1 | c.571A>G (p.Thr191Ala) | ClinVar dbSNP |
| X | g.71224278A>T | CA413503205 | GJB1 | c.571A>T (p.Thr191Ser) | ClinVar dbSNP COSMIC |
| X | g.71224278dup | CA915951212 | GJB1 | c.571dup (p.Thr191AsnfsTer?) | ClinVar dbSNP |
| X | g.71224279C>A | CA413503206 | GJB1 | c.572C>A (p.Thr191Asn) | ClinVar |
| X | g.71224279C>G | CA413503207 | GJB1 | c.572C>G (p.Thr191Ser) | |
| X | g.71224279C>T | CA413503208 | GJB1 | c.572C>T (p.Thr191Ile) | gnomAD v4 |
| X | g.71224280C>A | CA516820935 | GJB1 | c.573C>A (p.Thr191=) | gnomAD v4 |
| X | g.71224280C= | CA2436388465 | GJB1 | c.573C= (p.Thr191=) | |
| X | g.71224280C>G | CA10445317 | GJB1 | c.573C>G (p.Thr191=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224280C>T | CA10445318 | GJB1 | c.573C>T (p.Thr191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224280_71224288del | CA2695234573 | GJB1 | c.573_581del (p.Val192_Met194del) | |
| X | g.71224280_71224281insTCA | CA915951213 | GJB1 | c.573_574insTCA (p.Thr191_Val192insSer) | ClinVar dbSNP |
| X | g.71224281G>A | CA10445319 | GJB1 | c.574G>A (p.Val192Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224281G>C | CA413503210 | GJB1 | c.574G>C (p.Val192Leu) | |
| X | g.71224281G= | CA2436388466 | GJB1 | c.574G= (p.Val192=) | |
| X | g.71224281G>T | CA413503209 | GJB1 | c.574G>T (p.Val192Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224282T>A | CA413503211 | GJB1 | c.575T>A (p.Val192Asp) | |
| X | g.71224282T>C | CA413503213 | GJB1 | c.575T>C (p.Val192Ala) | |
| X | g.71224282T>G | CA413503212 | GJB1 | c.575T>G (p.Val192Gly) | |
| X | g.71224282_71224283delinsTC | CA2436388467 | GJB1 | c.575_576delinsTC (p.Val192=) | |
| X | g.71224283del | CA915951214 | GJB1 | c.576del (p.Phe193SerfsTer3) | ClinVar dbSNP |
| X | g.71224283C>A | CA516820937 | GJB1 | c.576C>A (p.Val192=) | |
| X | g.71224283C>G | CA516820938 | GJB1 | c.576C>G (p.Val192=) | |
| X | g.71224283C>T | CA516820939 | GJB1 | c.576C>T (p.Val192=) | |
| X | g.71224284T>A | CA413503214 | GJB1 | c.577T>A (p.Phe193Ile) | |
| X | g.71224284T>C | CA413503215 | GJB1 | c.577T>C (p.Phe193Leu) | ClinVar |
| X | g.71224284T>G | CA413503216 | GJB1 | c.577T>G (p.Phe193Val) | |
| X | g.71224285T>A | CA413503217 | GJB1 | c.578T>A (p.Phe193Tyr) | |
| X | g.71224285T>C | CA413503218 | GJB1 | c.578T>C (p.Phe193Ser) | |
| X | g.71224285T>G | CA413503219 | GJB1 | c.578T>G (p.Phe193Cys) | ClinVar dbSNP |
| X | g.71224285T= | CA2436388468 | GJB1 | c.578T= (p.Phe193=) | |
| X | g.71224286C>A | CA413503220 | GJB1 | c.579C>A (p.Phe193Leu) | |
| X | g.71224286C= | CA2436388469 | GJB1 | c.579C= (p.Phe193=) | |
| X | g.71224286C>G | CA413503221 | GJB1 | c.579C>G (p.Phe193Leu) | ClinVar dbSNP COSMIC |
| X | g.71224286C>T | CA516820940 | GJB1 | c.579C>T (p.Phe193=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224287A= | CA2436388470 | GJB1 | c.580A= (p.Met194=) | |
| X | g.71224287A>C | CA413503222 | GJB1 | c.580A>C (p.Met194Leu) | ClinVar |
| X | g.71224287A>G | CA270643 | GJB1 | c.580A>G (p.Met194Val) | ClinVar dbSNP |
| X | g.71224287A>T | CA413503223 | GJB1 | c.580A>T (p.Met194Leu) | |
| X | g.71224288T>A | CA413503226 | GJB1 | c.581T>A (p.Met194Lys) | |
| X | g.71224288T>C | CA413503225 | GJB1 | c.581T>C (p.Met194Thr) | |
| X | g.71224288T>G | CA413503224 | GJB1 | c.581T>G (p.Met194Arg) | |
| X | g.71224289G>A | CA413503227 | GJB1 | c.582G>A (p.Met194Ile) | |
| X | g.71224289G>C | CA413503228 | GJB1 | c.582G>C (p.Met194Ile) | |
| X | g.71224289G>T | CA413503229 | GJB1 | c.582G>T (p.Met194Ile) | gnomAD v4 |
| X | g.71224290C>A | CA413503230 | GJB1 | c.583C>A (p.Leu195Ile) | |
| X | g.71224290C>G | CA413503231 | GJB1 | c.583C>G (p.Leu195Val) | |
| X | g.71224290C>T | CA516820945 | GJB1 | c.583C>T (p.Leu195=) | |
| X | g.71224291T>A | CA413503232 | GJB1 | c.584T>A (p.Leu195Gln) | ClinVar dbSNP |
| X | g.71224291T>C | CA413503233 | GJB1 | c.584T>C (p.Leu195Pro) | ClinVar dbSNP |
| X | g.71224291T>G | CA413503234 | GJB1 | c.584T>G (p.Leu195Arg) | |
| X | g.71224291T= | CA2436388471 | GJB1 | c.584T= (p.Leu195=) | |
| X | g.71224292A= | CA2436388472 | GJB1 | c.585A= (p.Leu195=) | |
| X | g.71224292A>C | CA516820949 | GJB1 | c.585A>C (p.Leu195=) | dbSNP |
| X | g.71224292A>G | CA516820947 | GJB1 | c.585A>G (p.Leu195=) | |
| X | g.71224292A>T | CA516820948 | GJB1 | c.585A>T (p.Leu195=) | |
| X | g.71224293G>A | CA413503235 | GJB1 | c.586G>A (p.Ala196Thr) | |
| X | g.71224293G>C | CA413503236 | GJB1 | c.586G>C (p.Ala196Pro) | |
| X | g.71224293G>T | CA413503237 | GJB1 | c.586G>T (p.Ala196Ser) | |
| X | g.71224294C>A | CA413503240 | GJB1 | c.587C>A (p.Ala196Asp) | gnomAD v4 |
| X | g.71224294C>G | CA413503239 | GJB1 | c.587C>G (p.Ala196Gly) | |
| X | g.71224294C>T | CA413503238 | GJB1 | c.587C>T (p.Ala196Val) | |
| X | g.71224295T>A | CA516820952 | GJB1 | c.588T>A (p.Ala196=) | dbSNP |
| X | g.71224295T>C | CA330997808 | GJB1 | c.588T>C (p.Ala196=) | dbSNP |
| X | g.71224295T>G | CA516820951 | GJB1 | c.588T>G (p.Ala196=) | |
| X | g.71224295T= | CA2436388473 | GJB1 | c.588T= (p.Ala196=) | |
| X | g.71224296G>A | CA413503241 | GJB1 | c.589G>A (p.Ala197Thr) | |
| X | g.71224296G>C | CA413503242 | GJB1 | c.589G>C (p.Ala197Pro) | dbSNP |
| X | g.71224296G>T | CA413503243 | GJB1 | c.589G>T (p.Ala197Ser) | |
| X | g.71224297C>A | CA413503244 | GJB1 | c.590C>A (p.Ala197Asp) | |
| X | g.71224297C= | CA2436388474 | GJB1 | c.590C= (p.Ala197=) | |
| X | g.71224297C>G | CA413503245 | GJB1 | c.590C>G (p.Ala197Gly) | |
| X | g.71224297C>T | CA413503246 | GJB1 | c.590C>T (p.Ala197Val) | ClinVar dbSNP |
| X | g.71224298C>A | CA516820953 | GJB1 | c.591C>A (p.Ala197=) | |
| X | g.71224298C= | CA2436388475 | GJB1 | c.591C= (p.Ala197=) | |
| X | g.71224298C>G | CA516820955 | GJB1 | c.591C>G (p.Ala197=) | |
| X | g.71224298C>T | CA516820954 | GJB1 | c.591C>T (p.Ala197=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224299T>A | CA413503247 | GJB1 | c.592T>A (p.Ser198Thr) | |
| X | g.71224299T>C | CA413503248 | GJB1 | c.592T>C (p.Ser198Pro) | ClinVar dbSNP |
| X | g.71224299T>G | CA413503249 | GJB1 | c.592T>G (p.Ser198Ala) | ClinVar dbSNP |
| X | g.71224299T= | CA2436388476 | GJB1 | c.592T= (p.Ser198=) | |
| X | g.71224300C>A | CA413503250 | GJB1 | c.593C>A (p.Ser198Tyr) | gnomAD v4 |
| X | g.71224300C= | CA2436388477 | GJB1 | c.593C= (p.Ser198=) | |
| X | g.71224300C>G | CA413503251 | GJB1 | c.593C>G (p.Ser198Cys) | ClinVar |
| X | g.71224300C>T | CA413503252 | GJB1 | c.593C>T (p.Ser198Phe) | ClinVar dbSNP |
| X | g.71224301T>A | CA516820958 | GJB1 | c.594T>A (p.Ser198=) | ClinVar dbSNP |
| X | g.71224301T>C | CA330997810 | GJB1 | c.594T>C (p.Ser198=) | dbSNP |
| X | g.71224301T>G | CA516820960 | GJB1 | c.594T>G (p.Ser198=) | |
| X | g.71224301T= | CA2436388478 | GJB1 | c.594T= (p.Ser198=) | |
| X | g.71224302G>A | CA10445320 | GJB1 | c.595G>A (p.Gly199Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224302G>C | CA413503253 | GJB1 | c.595G>C (p.Gly199Arg) | ClinVar dbSNP |
| X | g.71224302G= | CA2436388479 | GJB1 | c.595G= (p.Gly199=) | |
| X | g.71224302G>T | CA413503254 | GJB1 | c.595G>T (p.Gly199Cys) | |
| X | g.71224303G>A | CA413503255 | GJB1 | c.596G>A (p.Gly199Asp) | ClinVar dbSNP gnomAD v4 |
| X | g.71224303G>C | CA413503256 | GJB1 | c.596G>C (p.Gly199Ala) | |
| X | g.71224303G>T | CA413503257 | GJB1 | c.596G>T (p.Gly199Val) | ClinVar gnomAD v4 |
| X | g.71224304C>A | CA516820965 | GJB1 | c.597C>A (p.Gly199=) | |
| X | g.71224304C>G | CA516820966 | GJB1 | c.597C>G (p.Gly199=) | |
| X | g.71224304C>T | CA516820968 | GJB1 | c.597C>T (p.Gly199=) | gnomAD v4 |
| X | g.71224305A>C | CA413503258 | GJB1 | c.598A>C (p.Ile200Leu) | |
| X | g.71224305A>G | CA413503259 | GJB1 | c.598A>G (p.Ile200Val) | |
| X | g.71224305A>T | CA413503260 | GJB1 | c.598A>T (p.Ile200Phe) | |
| X | g.71224306T>A | CA413503261 | GJB1 | c.599T>A (p.Ile200Asn) | |
| X | g.71224306T>C | CA413503262 | GJB1 | c.599T>C (p.Ile200Thr) | |
| X | g.71224306T>G | CA413503263 | GJB1 | c.599T>G (p.Ile200Ser) | |
| X | g.71224307C>A | CA516820970 | GJB1 | c.600C>A (p.Ile200=) | |
| X | g.71224307C>G | CA413503264 | GJB1 | c.600C>G (p.Ile200Met) | |
| X | g.71224307C>T | CA516820972 | GJB1 | c.600C>T (p.Ile200=) | |
| X | g.71224308T>A | CA413503266 | GJB1 | c.601T>A (p.Cys201Ser) | |
| X | g.71224308T>C | CA413503267 | GJB1 | c.601T>C (p.Cys201Arg) | ClinVar dbSNP |
| X | g.71224308T>G | CA413503265 | GJB1 | c.601T>G (p.Cys201Gly) | ClinVar dbSNP |
| X | g.71224308T= | CA2436388481 | GJB1 | c.601T= (p.Cys201=) | |
| X | g.71224308_71224309delinsTG | CA2436388480 | GJB1 | c.601_602delinsTG (p.Cys201=) | |
| X | g.71224309del | CA891844223 | GJB1 | c.602del (p.Cys201SerfsTer?) | ClinVar dbSNP |
| X | g.71224309G>A | CA413503269 | GJB1 | c.602G>A (p.Cys201Tyr) | ClinVar dbSNP gnomAD v4 |
| X | g.71224309G>C | CA413503268 | GJB1 | c.602G>C (p.Cys201Ser) | ClinVar dbSNP |
| X | g.71224309G= | CA2436388482 | GJB1 | c.602G= (p.Cys201=) | |
| X | g.71224309G>T | CA413503270 | GJB1 | c.602G>T (p.Cys201Phe) | ClinVar dbSNP |
| X | g.71224310C>A | CA413503271 | GJB1 | c.603C>A (p.Cys201Ter) | |
| X | g.71224310C>G | CA413503272 | GJB1 | c.603C>G (p.Cys201Trp) | |
| X | g.71224310C>T | CA516820976 | GJB1 | c.603C>T (p.Cys201=) | |
| X | g.71224311A>C | CA413503273 | GJB1 | c.604A>C (p.Ile202Leu) | |
| X | g.71224311A>G | CA413503274 | GJB1 | c.604A>G (p.Ile202Val) | |
| X | g.71224311A>T | CA413503275 | GJB1 | c.604A>T (p.Ile202Phe) | |
| X | g.71224312T>A | CA413503276 | GJB1 | c.605T>A (p.Ile202Asn) | ClinVar dbSNP |
| X | g.71224312T>C | CA413503277 | GJB1 | c.605T>C (p.Ile202Thr) | |
| X | g.71224312T>G | CA413503278 | GJB1 | c.605T>G (p.Ile202Ser) | |
| X | g.71224312T= | CA2436388484 | GJB1 | c.605T= (p.Ile202=) | |
| X | g.71224312_71224313delinsTC | CA2436388483 | GJB1 | c.605_606delinsTC (p.Ile202=) | |
| X | g.71224313del | CA915951215 | GJB1 | c.606del (p.Ile203SerfsTer?) | ClinVar dbSNP |
| X | g.71224313C>A | CA516820981 | GJB1 | c.606C>A (p.Ile202=) | |
| X | g.71224313C= | CA2436388485 | GJB1 | c.606C= (p.Ile202=) | |
| X | g.71224313C>G | CA413503279 | GJB1 | c.606C>G (p.Ile202Met) | |
| X | g.71224313C>T | CA516820982 | GJB1 | c.606C>T (p.Ile202=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224314A>C | CA413503280 | GJB1 | c.607A>C (p.Ile203Leu) | |
| X | g.71224314A>G | CA413503281 | GJB1 | c.607A>G (p.Ile203Val) | |
| X | g.71224314A>T | CA413503282 | GJB1 | c.607A>T (p.Ile203Phe) | |
| X | g.71224315T>A | CA413503285 | GJB1 | c.608T>A (p.Ile203Asn) | ClinVar dbSNP |
| X | g.71224315T>C | CA413503284 | GJB1 | c.608T>C (p.Ile203Thr) | ClinVar dbSNP |
| X | g.71224315T>G | CA413503283 | GJB1 | c.608T>G (p.Ile203Ser) | |
| X | g.71224315T= | CA2436388486 | GJB1 | c.608T= (p.Ile203=) | |
| X | g.71224315_71224316dup | CA2695234574 | GJB1 | c.608_609dup (p.Leu204SerfsTer?) | |
| X | g.71224316C>A | CA516820987 | GJB1 | c.609C>A (p.Ile203=) | |
| X | g.71224316C= | CA2436388487 | GJB1 | c.609C= (p.Ile203=) | |
| X | g.71224316C>G | CA413503286 | GJB1 | c.609C>G (p.Ile203Met) | COSMIC |
| X | g.71224316C>T | CA516820989 | GJB1 | c.609C>T (p.Ile203=) | dbSNP |
| X | g.71224317C>A | CA16621494 | GJB1 | c.610C>A (p.Leu204Ile) | ClinVar dbSNP |
| X | g.71224317C= | CA2436388488 | GJB1 | c.610C= (p.Leu204=) | |
| X | g.71224317C>G | CA413503287 | GJB1 | c.610C>G (p.Leu204Val) | ClinVar dbSNP |
| X | g.71224317C>T | CA413503288 | GJB1 | c.610C>T (p.Leu204Phe) | ClinVar dbSNP |
| X | g.71224318T>A | CA413503289 | GJB1 | c.611T>A (p.Leu204His) | |
| X | g.71224318T>C | CA413503290 | GJB1 | c.611T>C (p.Leu204Pro) | |
| X | g.71224318T>G | CA413503291 | GJB1 | c.611T>G (p.Leu204Arg) | |
| X | g.71224319C>A | CA516820994 | GJB1 | c.612C>A (p.Leu204=) | |
| X | g.71224319C>G | CA516820993 | GJB1 | c.612C>G (p.Leu204=) | |
| X | g.71224319C>T | CA516820992 | GJB1 | c.612C>T (p.Leu204=) | |
| X | g.71224320A>C | CA413503292 | GJB1 | c.613A>C (p.Asn205His) | |
| X | g.71224320A>G | CA413503293 | GJB1 | c.613A>G (p.Asn205Asp) | |
| X | g.71224320A>T | CA413503294 | GJB1 | c.613A>T (p.Asn205Tyr) | |
| X | g.71224321A= | CA2436388489 | GJB1 | c.614A= (p.Asn205=) | |
| X | g.71224321A>C | CA413503295 | GJB1 | c.614A>C (p.Asn205Thr) | |
| X | g.71224321A>G | CA340970 | GJB1 | c.614A>G (p.Asn205Ser) | ClinVar dbSNP |
| X | g.71224321A>T | CA413503296 | GJB1 | c.614A>T (p.Asn205Ile) | ClinVar dbSNP |
| X | g.71224322T>A | CA413503297 | GJB1 | c.615T>A (p.Asn205Lys) | ClinVar dbSNP |
| X | g.71224322T>C | CA516821000 | GJB1 | c.615T>C (p.Asn205=) | dbSNP |
| X | g.71224322T>G | CA413503298 | GJB1 | c.615T>G (p.Asn205Lys) | |
| X | g.71224322T= | CA2436388490 | GJB1 | c.615T= (p.Asn205=) | |
| X | g.71224323G>A | CA413503299 | GJB1 | c.616G>A (p.Val206Met) | |
| X | g.71224323G>C | CA413503300 | GJB1 | c.616G>C (p.Val206Leu) | |
| X | g.71224323G= | CA2436388491 | GJB1 | c.616G= (p.Val206=) | |
| X | g.71224323G>T | CA413503302 | GJB1 | c.616G>T (p.Val206Leu) | gnomAD v4 |
| X | g.71224324T>A | CA413503304 | GJB1 | c.617T>A (p.Val206Glu) | |
| X | g.71224324T>C | CA413503306 | GJB1 | c.617T>C (p.Val206Ala) | |
| X | g.71224324T>G | CA413503308 | GJB1 | c.617T>G (p.Val206Gly) | ClinVar dbSNP |
| X | g.71224324T= | CA2436388492 | GJB1 | c.617T= (p.Val206=) | |
| X | g.71224324dup | CA915951216 | GJB1 | c.617dup (p.Ala207GlyfsTer?) | ClinVar dbSNP |
| X | g.71224325G>A | CA516821009 | GJB1 | c.618G>A (p.Val206=) | |
| X | g.71224325G>C | CA516821012 | GJB1 | c.618G>C (p.Val206=) | |
| X | g.71224325G>T | CA516821010 | GJB1 | c.618G>T (p.Val206=) | |
| X | g.71224326G>A | CA413503310 | GJB1 | c.619G>A (p.Ala207Thr) | gnomAD v4 |
| X | g.71224326G>C | CA413503312 | GJB1 | c.619G>C (p.Ala207Pro) | ClinVar dbSNP |
| X | g.71224326G>T | CA413503313 | GJB1 | c.619G>T (p.Ala207Ser) | |
| X | g.71224327C>A | CA413503316 | GJB1 | c.620C>A (p.Ala207Asp) | gnomAD v4 |
| X | g.71224327C= | CA2436388493 | GJB1 | c.620C= (p.Ala207=) | |
| X | g.71224327C>G | CA413503318 | GJB1 | c.620C>G (p.Ala207Gly) | |
| X | g.71224327C>T | CA10445321 | GJB1 | c.620C>T (p.Ala207Val) | dbSNP ExAC gnomAD v4 |
| X | g.71224328C>A | CA516821016 | GJB1 | c.621C>A (p.Ala207=) | |
| X | g.71224328C= | CA2436388494 | GJB1 | c.621C= (p.Ala207=) | |
| X | g.71224328C>G | CA516821017 | GJB1 | c.621C>G (p.Ala207=) | dbSNP |
| X | g.71224328C>T | CA516821018 | GJB1 | c.621C>T (p.Ala207=) | gnomAD v4 |
| X | g.71224329del | CA2573159496 | GJB1 | c.622del (p.Glu208ArgfsTer?) | ClinVar dbSNP |
| X | g.71224329G>A | CA413503325 | GJB1 | c.622G>A (p.Glu208Lys) | ClinVar dbSNP gnomAD v4 |
| X | g.71224329G>C | CA413503323 | GJB1 | c.622G>C (p.Glu208Gln) | |
| X | g.71224329G= | CA2436388495 | GJB1 | c.622G= (p.Glu208=) | |
| X | g.71224329G>T | CA413503321 | GJB1 | c.622G>T (p.Glu208Ter) | |
| X | g.71224330A= | CA2436388496 | GJB1 | c.623A= (p.Glu208=) | |
| X | g.71224330A>C | CA413503327 | GJB1 | c.623A>C (p.Glu208Ala) | |
| X | g.71224330A>G | CA413503329 | GJB1 | c.623A>G (p.Glu208Gly) | ClinVar dbSNP |
| X | g.71224330A>T | CA413503331 | GJB1 | c.623A>T (p.Glu208Val) | |
| X | g.71224330_71224333delinsAGGT | CA2436388497 | GJB1 | c.623_626delinsAGGT (p.Glu208=) | |
| X | g.71224331G>A | CA516821020 | GJB1 | c.624G>A (p.Glu208=) | dbSNP |
| X | g.71224331G>C | CA413503333 | GJB1 | c.624G>C (p.Glu208Asp) | |
| X | g.71224331G= | CA2436388498 | GJB1 | c.624G= (p.Glu208=) | |
| X | g.71224331G>T | CA413503335 | GJB1 | c.624G>T (p.Glu208Asp) | |
| X | g.71224335_71224337del | CA915951217 | GJB1 | c.628_630del (p.Val210del) | ClinVar dbSNP |
| X | g.71224332G>A | CA413503337 | GJB1 | c.625G>A (p.Val209Met) | |
| X | g.71224332G>C | CA413503339 | GJB1 | c.625G>C (p.Val209Leu) | |
| X | g.71224332G= | CA2436388499 | GJB1 | c.625G= (p.Val209=) | |
| X | g.71224332G>T | CA413503342 | GJB1 | c.625G>T (p.Val209Leu) | ClinVar dbSNP gnomAD v4 |
| X | g.71224333T>A | CA413503344 | GJB1 | c.626T>A (p.Val209Glu) | |
| X | g.71224333T>C | CA413503346 | GJB1 | c.626T>C (p.Val209Ala) | |
| X | g.71224333T>G | CA16621495 | GJB1 | c.626T>G (p.Val209Gly) | ClinVar dbSNP |
| X | g.71224333T= | CA2436388500 | GJB1 | c.626T= (p.Val209=) | |
| X | g.71224334G>A | CA516821026 | GJB1 | c.627G>A (p.Val209=) | gnomAD v4 |
| X | g.71224334G>C | CA516821027 | GJB1 | c.627G>C (p.Val209=) | |
| X | g.71224334G= | CA2436388501 | GJB1 | c.627G= (p.Val209=) | |
| X | g.71224334G>T | CA10445322 | GJB1 | c.627G>T (p.Val209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224335G>A | CA413503356 | GJB1 | c.628G>A (p.Val210Met) | |
| X | g.71224335G>C | CA413503354 | GJB1 | c.628G>C (p.Val210Leu) | |
| X | g.71224335G>T | CA413503351 | GJB1 | c.628G>T (p.Val210Leu) | |
| X | g.71224335_71224339delinsGTGTA | CA2436388502 | GJB1 | c.628_632delinsGTGTA (p.Val210=) | |
| X | g.71224336T>A | CA413503359 | GJB1 | c.629T>A (p.Val210Glu) | ClinVar dbSNP |
| X | g.71224336T>C | CA413503363 | GJB1 | c.629T>C (p.Val210Ala) | |
| X | g.71224336T>G | CA413503361 | GJB1 | c.629T>G (p.Val210Gly) | |
| X | g.71224336T= | CA2436388503 | GJB1 | c.629T= (p.Val210=) | |
| X | g.71224336_71224337delinsTG | CA2436388504 | GJB1 | c.629_630delinsTG (p.Val210=) | |
| X | g.71224336_71224339del | CA915951218 | GJB1 | c.629_632del (p.Val210AlafsTer?) | ClinVar dbSNP |
| X | g.71224337del | CA1139667647 | GJB1 | c.630del (p.Tyr211ThrfsTer?) | ClinVar dbSNP |
| X | g.71224337G>A | CA516821031 | GJB1 | c.630G>A (p.Val210=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224337G>C | CA516821034 | GJB1 | c.630G>C (p.Val210=) | |
| X | g.71224337G= | CA2436388505 | GJB1 | c.630G= (p.Val210=) | |
| X | g.71224337G>T | CA516821036 | GJB1 | c.630G>T (p.Val210=) | |
| X | g.71224338T>A | CA413503366 | GJB1 | c.631T>A (p.Tyr211Asn) | |
| X | g.71224338T>C | CA413503368 | GJB1 | c.631T>C (p.Tyr211His) | ClinVar dbSNP gnomAD v4 |
| X | g.71224338T>G | CA413503369 | GJB1 | c.631T>G (p.Tyr211Asp) | |
| X | g.71224338T= | CA2436388506 | GJB1 | c.631T= (p.Tyr211=) | |
| X | g.71224339A= | CA2436388507 | GJB1 | c.632A= (p.Tyr211=) | |
| X | g.71224339A>C | CA413503373 | GJB1 | c.632A>C (p.Tyr211Ser) | |
| X | g.71224339A>G | CA413503375 | GJB1 | c.632A>G (p.Tyr211Cys) | ClinVar dbSNP |
| X | g.71224339A>T | CA413503377 | GJB1 | c.632A>T (p.Tyr211Phe) | |
| X | g.71224339_71224340delinsAC | CA2436388508 | GJB1 | c.632_633delinsAC (p.Tyr211=) | |
| X | g.71224340C>A | CA413503379 | GJB1 | c.633C>A (p.Tyr211Ter) | ClinVar dbSNP |
| X | g.71224340C= | CA2436388509 | GJB1 | c.633C= (p.Tyr211=) | |
| X | g.71224340C>G | CA413503381 | GJB1 | c.633C>G (p.Tyr211Ter) | |
| X | g.71224340C>T | CA516821042 | GJB1 | c.633C>T (p.Tyr211=) | ClinVar dbSNP gnomAD v4 |
| X | g.71224341del | CA915951219 | GJB1 | c.634del (p.Leu212SerfsTer?) | ClinVar dbSNP |
| X | g.71224341C>A | CA413503385 | GJB1 | c.634C>A (p.Leu212Ile) | |
| X | g.71224341C= | CA2436388510 | GJB1 | c.634C= (p.Leu212=) | |
| X | g.71224341C>G | CA413503387 | GJB1 | c.634C>G (p.Leu212Val) | |
| X | g.71224341C>T | CA413503389 | GJB1 | c.634C>T (p.Leu212Phe) | ClinVar dbSNP |
| X | g.71224342T>A | CA413503396 | GJB1 | c.635T>A (p.Leu212His) | |
| X | g.71224342T>C | CA413503394 | GJB1 | c.635T>C (p.Leu212Pro) | |
| X | g.71224342T>G | CA413503391 | GJB1 | c.635T>G (p.Leu212Arg) | ClinVar dbSNP |
| X | g.71224342T= | CA2436388511 | GJB1 | c.635T= (p.Leu212=) | |
| X | g.71224347_71224349del | CA2739289597 | GJB1 | c.640_642del (p.Ile214del) | |
| X | g.71224343C>A | CA516821047 | GJB1 | c.636C>A (p.Leu212=) | |
| X | g.71224343C>G | CA516821048 | GJB1 | c.636C>G (p.Leu212=) | |
| X | g.71224343C>T | CA516821050 | GJB1 | c.636C>T (p.Leu212=) | |
| X | g.71224344A= | CA2436388512 | GJB1 | c.637A= (p.Ile213=) | |
| X | g.71224344A>C | CA413503399 | GJB1 | c.637A>C (p.Ile213Leu) | |
| X | g.71224344A>G | CA10445323 | GJB1 | c.637A>G (p.Ile213Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224344A>T | CA413503402 | GJB1 | c.637A>T (p.Ile213Phe) | |
| X | g.71224344_71224347delinsC | CA2695234576 | GJB1 | c.637_640delinsC (p.Ile213_Ile214delinsLeu) | |
| X | g.71224344_71224347dup | CA2695234575 | GJB1 | c.637_640dup (p.Ile214AsnfsTer30) | |
| X | g.71224345T>A | CA413503404 | GJB1 | c.638T>A (p.Ile213Asn) | |
| X | g.71224345T>C | CA413503405 | GJB1 | c.638T>C (p.Ile213Thr) | |
| X | g.71224345T>G | CA413503407 | GJB1 | c.638T>G (p.Ile213Ser) | |
| X | g.71224346C>A | CA516821056 | GJB1 | c.639C>A (p.Ile213=) | |
| X | g.71224346C>G | CA413503410 | GJB1 | c.639C>G (p.Ile213Met) | dbSNP gnomAD v4 |
| X | g.71224346C>T | CA516821053 | GJB1 | c.639C>T (p.Ile213=) | ClinVar dbSNP gnomAD v4 |
| X | g.71224347A>C | CA413503413 | GJB1 | c.640A>C (p.Ile214Leu) | |
| X | g.71224347A>G | CA413503415 | GJB1 | c.640A>G (p.Ile214Val) | |
| X | g.71224347A>T | CA413503416 | GJB1 | c.640A>T (p.Ile214Phe) | |
| X | g.71224348T>A | CA413503417 | GJB1 | c.641T>A (p.Ile214Asn) | ClinVar dbSNP |
| X | g.71224348T>C | CA413503418 | GJB1 | c.641T>C (p.Ile214Thr) | gnomAD v4 |
| X | g.71224348T>G | CA413503419 | GJB1 | c.641T>G (p.Ile214Ser) | |
| X | g.71224348T= | CA2436388513 | GJB1 | c.641T= (p.Ile214=) | |
| X | g.71224348dup | CA2695234577 | GJB1 | c.641dup (p.Arg215ProfsTer28) | |
| X | g.71224348_71224349delinsAT | CA915951220 | GJB1 | c.641_642delinsAT (p.Ile214Asn) | ClinVar dbSNP |
| X | g.71224348_71224349delinsTC | CA2436388514 | GJB1 | c.641_642delinsTC (p.Ile214=) | |
| X | g.71224349C>A | CA516821060 | GJB1 | c.642C>A (p.Ile214=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224349C= | CA2436388515 | GJB1 | c.642C= (p.Ile214=) | |
| X | g.71224349C>G | CA413503420 | GJB1 | c.642C>G (p.Ile214Met) | |
| X | g.71224349C>T | CA10445324 | GJB1 | c.642C>T (p.Ile214=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |