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 |
|---|---|---|---|---|---|
| 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=) | |
| 13 | g.20222714A>C | CA387467068 | GJB6 | c.767T>G (p.Ile256Ser) | |
| 13 | g.20222714A>G | CA387467071 | GJB6 | c.767T>C (p.Ile256Thr) | dbSNP |
| 13 | g.20222714A>T | CA387467069 | GJB6 | c.767T>A (p.Ile256Asn) | |
| 13 | g.20222715T>A | CA387467072 | GJB6 | c.766A>T (p.Ile256Phe) | |
| 13 | g.20222715T>C | CA6904368 | GJB6 | c.766A>G (p.Ile256Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222715T>G | CA387467074 | GJB6 | c.766A>C (p.Ile256Leu) | |
| 13 | g.20222715T= | CA2077159314 | GJB6 | c.766A= (p.Ile256=) | |
| 13 | g.20222716T>A | CA483154082 | GJB6 | c.765A>T (p.Ala255=) | |
| 13 | g.20222716T>C | CA483154081 | GJB6 | c.765A>G (p.Ala255=) | |
| 13 | g.20222716T>G | CA483154080 | GJB6 | c.765A>C (p.Ala255=) | |
| 13 | g.20222717G>A | CA387467076 | GJB6 | c.764C>T (p.Ala255Val) | gnomAD v4 |
| 13 | g.20222717G>C | CA387467077 | GJB6 | c.764C>G (p.Ala255Gly) | |
| 13 | g.20222717G>T | CA387467078 | GJB6 | c.764C>A (p.Ala255Glu) | |
| 13 | g.20222718C>A | CA387467084 | GJB6 | c.763G>T (p.Ala255Ser) | |
| 13 | g.20222718C>G | CA387467080 | GJB6 | c.763G>C (p.Ala255Pro) | |
| 13 | g.20222718C>T | CA387467082 | GJB6 | c.763G>A (p.Ala255Thr) | |
| 13 | g.20222719A>C | CA387467085 | GJB6 | c.762T>G (p.Asn254Lys) | |
| 13 | g.20222719A>G | CA483154083 | GJB6 | c.762T>C (p.Asn254=) | gnomAD v4 |
| 13 | g.20222719A>T | CA387467087 | GJB6 | c.762T>A (p.Asn254Lys) | |
| 13 | g.20222720T>A | CA387467089 | GJB6 | c.761A>T (p.Asn254Ile) | |
| 13 | g.20222720T>C | CA387467091 | GJB6 | c.761A>G (p.Asn254Ser) | |
| 13 | g.20222720T>G | CA387467092 | GJB6 | c.761A>C (p.Asn254Thr) | |
| 13 | g.20222721T>A | CA387467094 | GJB6 | c.760A>T (p.Asn254Tyr) | |
| 13 | g.20222721T>C | CA387467098 | GJB6 | c.760A>G (p.Asn254Asp) | |
| 13 | g.20222721T>G | CA387467096 | GJB6 | c.760A>C (p.Asn254His) | |
| 13 | g.20222722T>A | CA387467099 | GJB6 | c.759A>T (p.Gln253His) | |
| 13 | g.20222722T>C | CA483154084 | GJB6 | c.759A>G (p.Gln253=) | |
| 13 | g.20222722T>G | CA387467101 | GJB6 | c.759A>C (p.Gln253His) | |
| 13 | g.20222723T>A | CA387467103 | GJB6 | c.758A>T (p.Gln253Leu) | |
| 13 | g.20222723T>C | CA387467104 | GJB6 | c.758A>G (p.Gln253Arg) | |
| 13 | g.20222723T>G | CA387467106 | GJB6 | c.758A>C (p.Gln253Pro) | |
| 13 | g.20222724G>A | CA387467107 | GJB6 | c.757C>T (p.Gln253Ter) | dbSNP |
| 13 | g.20222724G>C | CA387467108 | GJB6 | c.757C>G (p.Gln253Glu) | |
| 13 | g.20222724G= | CA2077159317 | GJB6 | c.757C= (p.Gln253=) | |
| 13 | g.20222724G>T | CA387467109 | GJB6 | c.757C>A (p.Gln253Lys) | |
| 13 | g.20222725A= | CA2077159322 | GJB6 | c.756T= (p.Gly252=) | |
| 13 | g.20222725A>C | CA483154085 | GJB6 | c.756T>G (p.Gly252=) | |
| 13 | g.20222725A>G | CA6904370 | GJB6 | c.756T>C (p.Gly252=) | dbSNP ExAC gnomAD v4 |
| 13 | g.20222725A>T | CA483154086 | GJB6 | c.756T>A (p.Gly252=) | |
| 13 | g.20222725_20222726insTGCAA | CA6904369 | GJB6 | c.756_757insTGCAT (p.Gln253CysfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222726C>A | CA387467116 | GJB6 | c.755G>T (p.Gly252Val) | |
| 13 | g.20222726C= | CA2077159325 | GJB6 | c.755G= (p.Gly252=) | |
| 13 | g.20222726C>G | CA387467113 | GJB6 | c.755G>C (p.Gly252Ala) | |
| 13 | g.20222726C>T | CA6904371 | GJB6 | c.755G>A (p.Gly252Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222727C>A | CA387467117 | GJB6 | c.754G>T (p.Gly252Cys) | |
| 13 | g.20222727C>G | CA387467119 | GJB6 | c.754G>C (p.Gly252Arg) | |
| 13 | g.20222727C>T | CA387467120 | GJB6 | c.754G>A (p.Gly252Ser) | |
| 13 | g.20222727_20222731delinsCACTA | CA2077159328 | GJB6 | c.750_754delinsTAGTG (p.Asp250=) | |
| 13 | g.20222728A= | CA2077159333 | GJB6 | c.753T= (p.Ser251=) | |
| 13 | g.20222728A>C | CA6904373 | GJB6 | c.753T>G (p.Ser251Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222728A>G | CA483154087 | GJB6 | c.753T>C (p.Ser251=) | gnomAD v4 |
| 13 | g.20222728A>T | CA387467123 | GJB6 | c.753T>A (p.Ser251Arg) | |
| 13 | g.20222728_20222731del | CA6904372 | GJB6 | c.750_753del (p.Asp250GlufsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222729_20222731del | CA2622252280 | GJB6 | c.751_753del (p.Ser251del) | gnomAD v4 |
| 13 | g.20222729C>A | CA387467125 | GJB6 | c.752G>T (p.Ser251Ile) | |
| 13 | g.20222729C>G | CA387467127 | GJB6 | c.752G>C (p.Ser251Thr) | |
| 13 | g.20222729C>T | CA387467129 | GJB6 | c.752G>A (p.Ser251Asn) | |
| 13 | g.20222730T>A | CA387467130 | GJB6 | c.751A>T (p.Ser251Cys) | |
| 13 | g.20222730T>C | CA387467131 | GJB6 | c.751A>G (p.Ser251Gly) | |
| 13 | g.20222730T>G | CA387467133 | GJB6 | c.751A>C (p.Ser251Arg) | |
| 13 | g.20222731A>C | CA387467135 | GJB6 | c.750T>G (p.Asp250Glu) | |
| 13 | g.20222731A>G | CA483154088 | GJB6 | c.750T>C (p.Asp250=) | |
| 13 | g.20222731A>T | CA387467136 | GJB6 | c.750T>A (p.Asp250Glu) | |
| 13 | g.20222732T>A | CA6904374 | GJB6 | c.749A>T (p.Asp250Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222732T>C | CA387467139 | GJB6 | c.749A>G (p.Asp250Gly) | gnomAD v4 |
| 13 | g.20222732T>G | CA387467137 | GJB6 | c.749A>C (p.Asp250Ala) | |
| 13 | g.20222732T= | CA2077159338 | GJB6 | c.749A= (p.Asp250=) | |
| 13 | g.20222733C>A | CA387467142 | GJB6 | c.748G>T (p.Asp250Tyr) | |
| 13 | g.20222733C= | CA2077159340 | GJB6 | c.748G= (p.Asp250=) | |
| 13 | g.20222733C>G | CA6904375 | GJB6 | c.748G>C (p.Asp250His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222733C>T | CA387467144 | GJB6 | c.748G>A (p.Asp250Asn) | |
| 13 | g.20222734T>A | CA483154089 | GJB6 | c.747A>T (p.Ser249=) | |
| 13 | g.20222734T>C | CA483154090 | GJB6 | c.747A>G (p.Ser249=) | |
| 13 | g.20222734T>G | CA483154091 | GJB6 | c.747A>C (p.Ser249=) | |
| 13 | g.20222735G>A | CA387467146 | GJB6 | c.746C>T (p.Ser249Leu) | |
| 13 | g.20222735G>C | CA387467148 | GJB6 | c.746C>G (p.Ser249Ter) | |
| 13 | g.20222735G>T | CA387467149 | GJB6 | c.746C>A (p.Ser249Ter) | |
| 13 | g.20222736A= | CA2077159343 | GJB6 | c.745T= (p.Ser249=) | |
| 13 | g.20222736A>C | CA387467152 | GJB6 | c.745T>G (p.Ser249Ala) | |
| 13 | g.20222736A>G | CA387467153 | GJB6 | c.745T>C (p.Ser249Pro) | |
| 13 | g.20222736A>T | CA387467154 | GJB6 | c.745T>A (p.Ser249Thr) | COSMIC |
| 13 | g.20222736_20222737insTGAATG | CA6904376 | GJB6 | c.744_745insCATTCA (p.Ile248_Ser249insHisSer) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222737A>C | CA387467157 | GJB6 | c.744T>G (p.Ile248Met) | |
| 13 | g.20222737A>G | CA483154093 | GJB6 | c.744T>C (p.Ile248=) | |
| 13 | g.20222737A>T | CA483154092 | GJB6 | c.744T>A (p.Ile248=) | |
| 13 | g.20222738A>C | CA387467158 | GJB6 | c.743T>G (p.Ile248Ser) | |
| 13 | g.20222738A>G | CA387467159 | GJB6 | c.743T>C (p.Ile248Thr) | |
| 13 | g.20222738A>T | CA387467160 | GJB6 | c.743T>A (p.Ile248Asn) | |
| 13 | g.20222739T>A | CA387467164 | GJB6 | c.742A>T (p.Ile248Phe) | gnomAD v4 |
| 13 | g.20222739T>C | CA6904377 | GJB6 | c.742A>G (p.Ile248Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222739T>G | CA387467162 | GJB6 | c.742A>C (p.Ile248Leu) | COSMIC |
| 13 | g.20222739T= | CA2077159351 | GJB6 | c.742A= (p.Ile248=) | |
| 13 | g.20222740C>A | CA483154094 | GJB6 | c.741G>T (p.Leu247=) | |
| 13 | g.20222740C>G | CA483154095 | GJB6 | c.741G>C (p.Leu247=) | |
| 13 | g.20222740C>T | CA483154096 | GJB6 | c.741G>A (p.Leu247=) | |
| 13 | g.20222741A>C | CA387467166 | GJB6 | c.740T>G (p.Leu247Arg) | |
| 13 | g.20222741A>G | CA387467167 | GJB6 | c.740T>C (p.Leu247Pro) | |
| 13 | g.20222741A>T | CA387467169 | GJB6 | c.740T>A (p.Leu247Gln) | |
| 13 | g.20222742G>A | CA483154097 | GJB6 | c.739C>T (p.Leu247=) | |
| 13 | g.20222742G>C | CA6904378 | GJB6 | c.739C>G (p.Leu247Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222742G= | CA2077159366 | GJB6 | c.739C= (p.Leu247=) | |
| 13 | g.20222742G>T | CA387467171 | GJB6 | c.739C>A (p.Leu247Met) | |
| 13 | g.20222743C>A | CA387467173 | GJB6 | c.738G>T (p.Glu246Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20222743C= | CA2077159371 | GJB6 | c.738G= (p.Glu246=) | |
| 13 | g.20222743C>G | CA387467175 | GJB6 | c.738G>C (p.Glu246Asp) | |
| 13 | g.20222743C>T | CA483154098 | GJB6 | c.738G>A (p.Glu246=) | gnomAD v4 |
| 13 | g.20222744T>A | CA387467176 | GJB6 | c.737A>T (p.Glu246Val) | |
| 13 | g.20222744T>C | CA387467178 | GJB6 | c.737A>G (p.Glu246Gly) | |
| 13 | g.20222744T>G | CA387467180 | GJB6 | c.737A>C (p.Glu246Ala) | |
| 13 | g.20222745C>A | CA387467182 | GJB6 | c.736G>T (p.Glu246Ter) | |
| 13 | g.20222745C= | CA2077159376 | GJB6 | c.736G= (p.Glu246=) | |
| 13 | g.20222745C>G | CA387467183 | GJB6 | c.736G>C (p.Glu246Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20222745C>T | CA6904379 | GJB6 | c.736G>A (p.Glu246Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222746A= | CA2077159380 | GJB6 | c.735T= (p.Asn245=) | |
| 13 | g.20222746A>C | CA387467186 | GJB6 | c.735T>G (p.Asn245Lys) | |
| 13 | g.20222746A>G | CA6904381 | GJB6 | c.735T>C (p.Asn245=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222746A>T | CA387467184 | GJB6 | c.735T>A (p.Asn245Lys) | |
| 13 | g.20222747T>A | CA387467189 | GJB6 | c.734A>T (p.Asn245Ile) | |
| 13 | g.20222747T>C | CA387467190 | GJB6 | c.734A>G (p.Asn245Ser) | |
| 13 | g.20222747T>G | CA387467192 | GJB6 | c.734A>C (p.Asn245Thr) | |
| 13 | g.20222748dup | CA6904380 | GJB6 | c.734dup (p.Asn245LysfsTer2) | dbSNP ExAC |
| 13 | g.20222748T>A | CA387467194 | GJB6 | c.733A>T (p.Asn245Tyr) | |
| 13 | g.20222748T>C | CA387467195 | GJB6 | c.733A>G (p.Asn245Asp) | |
| 13 | g.20222748T>G | CA387467197 | GJB6 | c.733A>C (p.Asn245His) | |
| 13 | g.20222749C>A | CA387467199 | GJB6 | c.732G>T (p.Met244Ile) | dbSNP |
| 13 | g.20222749C= | CA2077159388 | GJB6 | c.732G= (p.Met244=) | |
| 13 | g.20222749C>G | CA387467200 | GJB6 | c.732G>C (p.Met244Ile) | |
| 13 | g.20222749C>T | CA387467202 | GJB6 | c.732G>A (p.Met244Ile) | |
| 13 | g.20222750A= | CA2077159391 | GJB6 | c.731T= (p.Met244=) | |
| 13 | g.20222750A>C | CA387467203 | GJB6 | c.731T>G (p.Met244Arg) | |
| 13 | g.20222750A>G | CA387467205 | GJB6 | c.731T>C (p.Met244Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20222750A>T | CA387467207 | GJB6 | c.731T>A (p.Met244Lys) | |
| 13 | g.20222751T>A | CA387467209 | GJB6 | c.730A>T (p.Met244Leu) | |
| 13 | g.20222751T>C | CA387467210 | GJB6 | c.730A>G (p.Met244Val) | |
| 13 | g.20222751T>G | CA6904382 | GJB6 | c.730A>C (p.Met244Leu) | dbSNP ExAC |
| 13 | g.20222751T= | CA2077159392 | GJB6 | c.730A= (p.Met244=) | |
| 13 | g.20222752T>A | CA6904383 | GJB6 | c.729A>T (p.Glu243Asp) | dbSNP ExAC |
| 13 | g.20222752T>C | CA483154099 | GJB6 | c.729A>G (p.Glu243=) | |
| 13 | g.20222752T>G | CA387467213 | GJB6 | c.729A>C (p.Glu243Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20222752T= | CA2077159395 | GJB6 | c.729A= (p.Glu243=) | |
| 13 | g.20222753T>A | CA387467215 | GJB6 | c.728A>T (p.Glu243Val) | |
| 13 | g.20222753T>C | CA387467216 | GJB6 | c.728A>G (p.Glu243Gly) | |
| 13 | g.20222753T>G | CA387467218 | GJB6 | c.728A>C (p.Glu243Ala) | |
| 13 | g.20222754del | CA2575364821 | GJB6 | c.727del (p.Glu243LysfsTer2) | ClinVar gnomAD v4 |
| 13 | g.20222754C>A | CA387467220 | GJB6 | c.727G>T (p.Glu243Ter) | |
| 13 | g.20222754C= | CA2077159397 | GJB6 | c.727G= (p.Glu243=) | |
| 13 | g.20222754C>G | CA6904384 | GJB6 | c.727G>C (p.Glu243Gln) | dbSNP ExAC |
| 13 | g.20222754C>T | CA387467222 | GJB6 | c.727G>A (p.Glu243Lys) | COSMIC |
| 13 | g.20222755A>C | CA387467224 | GJB6 | c.726T>G (p.Asn242Lys) | |
| 13 | g.20222755A>G | CA483154100 | GJB6 | c.726T>C (p.Asn242=) | |
| 13 | g.20222755A>T | CA387467225 | GJB6 | c.726T>A (p.Asn242Lys) | |
| 13 | g.20222756T>A | CA387467227 | GJB6 | c.725A>T (p.Asn242Ile) | |
| 13 | g.20222756T>C | CA387467228 | GJB6 | c.725A>G (p.Asn242Ser) | gnomAD v4 |
| 13 | g.20222756T>G | CA387467230 | GJB6 | c.725A>C (p.Asn242Thr) | |
| 13 | g.20222757T>A | CA387467234 | GJB6 | c.724A>T (p.Asn242Tyr) | |
| 13 | g.20222757T>C | CA387467233 | GJB6 | c.724A>G (p.Asn242Asp) | |
| 13 | g.20222757T>G | CA387467231 | GJB6 | c.724A>C (p.Asn242His) | |
| 13 | g.20222758C>A | CA387467236 | GJB6 | c.723G>T (p.Gln241His) | |
| 13 | g.20222758C= | CA2077159404 | GJB6 | c.723G= (p.Gln241=) | |
| 13 | g.20222758C>G | CA387467237 | GJB6 | c.723G>C (p.Gln241His) | |
| 13 | g.20222758C>T | CA6904385 | GJB6 | c.723G>A (p.Gln241=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222759T>A | CA387467240 | GJB6 | c.722A>T (p.Gln241Leu) | |
| 13 | g.20222759T>C | CA387467241 | GJB6 | c.722A>G (p.Gln241Arg) | |
| 13 | g.20222759T>G | CA387467243 | GJB6 | c.722A>C (p.Gln241Pro) | |
| 13 | g.20222760G>A | CA6904386 | GJB6 | c.721C>T (p.Gln241Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222760G>C | CA387467246 | GJB6 | c.721C>G (p.Gln241Glu) | |
| 13 | g.20222760G= | CA2077159407 | GJB6 | c.721C= (p.Gln241=) | |
| 13 | g.20222760G>T | CA387467247 | GJB6 | c.721C>A (p.Gln241Lys) | |
| 13 | g.20222761C>A | CA387467249 | GJB6 | c.720G>T (p.Lys240Asn) | |
| 13 | g.20222761C>G | CA387467250 | GJB6 | c.720G>C (p.Lys240Asn) | |
| 13 | g.20222761C>T | CA483154101 | GJB6 | c.720G>A (p.Lys240=) | |
| 13 | g.20222762T>A | CA387467252 | GJB6 | c.719A>T (p.Lys240Met) | |
| 13 | g.20222762T>C | CA387467254 | GJB6 | c.719A>G (p.Lys240Arg) | |
| 13 | g.20222762T>G | CA387467255 | GJB6 | c.719A>C (p.Lys240Thr) | |
| 13 | g.20222763T>A | CA387467257 | GJB6 | c.718A>T (p.Lys240Ter) | gnomAD v4 |
| 13 | g.20222763T>C | CA387467259 | GJB6 | c.718A>G (p.Lys240Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20222763T>G | CA387467256 | GJB6 | c.718A>C (p.Lys240Gln) | |
| 13 | g.20222763T= | CA2077159408 | GJB6 | c.718A= (p.Lys240=) | |
| 13 | g.20222764A= | CA2077159411 | GJB6 | c.717T= (p.Ser239=) | |
| 13 | g.20222764A>C | CA387467261 | GJB6 | c.717T>G (p.Ser239Arg) | |
| 13 | g.20222764A>G | CA483154102 | GJB6 | c.717T>C (p.Ser239=) | gnomAD v3 gnomAD v4 |
| 13 | g.20222764A>T | CA6904387 | GJB6 | c.717T>A (p.Ser239Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222765C>A | CA387467263 | GJB6 | c.716G>T (p.Ser239Ile) | |
| 13 | g.20222765C>G | CA387467264 | GJB6 | c.716G>C (p.Ser239Thr) | gnomAD v4 |
| 13 | g.20222765C>T | CA387467266 | GJB6 | c.716G>A (p.Ser239Asn) | ClinVar dbSNP |
| 13 | g.20222766T>A | CA387467268 | GJB6 | c.715A>T (p.Ser239Cys) | |
| 13 | g.20222766T>C | CA387467270 | GJB6 | c.715A>G (p.Ser239Gly) | |
| 13 | g.20222766T>G | CA246490479 | GJB6 | c.715A>C (p.Ser239Arg) | dbSNP gnomAD v4 |
| 13 | g.20222766T= | CA2077159415 | GJB6 | c.715A= (p.Ser239=) | |
| 13 | g.20222767C>A | CA387467271 | GJB6 | c.714G>T (p.Glu238Asp) | |
| 13 | g.20222767C>G | CA387467273 | GJB6 | c.714G>C (p.Glu238Asp) | |
| 13 | g.20222767C>T | CA483154103 | GJB6 | c.714G>A (p.Glu238=) | |
| 13 | g.20222768T>A | CA387467275 | GJB6 | c.713A>T (p.Glu238Val) | |
| 13 | g.20222768T>C | CA387467277 | GJB6 | c.713A>G (p.Glu238Gly) | |
| 13 | g.20222768T>G | CA387467278 | GJB6 | c.713A>C (p.Glu238Ala) | |
| 13 | g.20222769C>A | CA387467279 | GJB6 | c.712G>T (p.Glu238Ter) | |
| 13 | g.20222769C= | CA2077159418 | GJB6 | c.712G= (p.Glu238=) | |
| 13 | g.20222769C>G | CA387467281 | GJB6 | c.712G>C (p.Glu238Gln) | dbSNP gnomAD v4 |
| 13 | g.20222769C>T | CA387467280 | GJB6 | c.712G>A (p.Glu238Lys) | |
| 13 | g.20222770C>A | CA387467282 | GJB6 | c.711G>T (p.Lys237Asn) | |
| 13 | g.20222770C= | CA2077159422 | GJB6 | c.711G= (p.Lys237=) | |
| 13 | g.20222770C>G | CA387467284 | GJB6 | c.711G>C (p.Lys237Asn) | |
| 13 | g.20222770C>T | CA6904388 | GJB6 | c.711G>A (p.Lys237=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222771T>A | CA387467286 | GJB6 | c.710A>T (p.Lys237Met) | |
| 13 | g.20222771T>C | CA387467288 | GJB6 | c.710A>G (p.Lys237Arg) | |
| 13 | g.20222771T>G | CA387467289 | GJB6 | c.710A>C (p.Lys237Thr) | |
| 13 | g.20222772T>A | CA387467291 | GJB6 | c.709A>T (p.Lys237Ter) | |
| 13 | g.20222772T>C | CA387467293 | GJB6 | c.709A>G (p.Lys237Glu) | |
| 13 | g.20222772T>G | CA387467294 | GJB6 | c.709A>C (p.Lys237Gln) | |
| 13 | g.20222773T>A | CA483154104 | GJB6 | c.708A>T (p.Leu236=) | |
| 13 | g.20222773T>C | CA6904389 | GJB6 | c.708A>G (p.Leu236=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222773T>G | CA483154105 | GJB6 | c.708A>C (p.Leu236=) | |
| 13 | g.20222773T= | CA2077159423 | GJB6 | c.708A= (p.Leu236=) | |
| 13 | g.20222774A>C | CA387467300 | GJB6 | c.707T>G (p.Leu236Arg) | |
| 13 | g.20222774A>G | CA387467297 | GJB6 | c.707T>C (p.Leu236Pro) | |
| 13 | g.20222774A>T | CA387467299 | GJB6 | c.707T>A (p.Leu236Gln) | |
| 13 | g.20222775G>A | CA483154106 | GJB6 | c.706C>T (p.Leu236=) | |
| 13 | g.20222775G>C | CA387467301 | GJB6 | c.706C>G (p.Leu236Val) | |
| 13 | g.20222775G>T | CA387467303 | GJB6 | c.706C>A (p.Leu236Ile) | |
| 13 | g.20222776G>A | CA483154107 | GJB6 | c.705C>T (p.Ala235=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20222776G>C | CA483154108 | GJB6 | c.705C>G (p.Ala235=) | dbSNP gnomAD v4 |
| 13 | g.20222776G= | CA2077159424 | GJB6 | c.705C= (p.Ala235=) | |
| 13 | g.20222776G>T | CA483154109 | GJB6 | c.705C>A (p.Ala235=) | |
| 13 | g.20222777G>A | CA246490481 | GJB6 | c.704C>T (p.Ala235Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 13 | g.20222777G>C | CA387467305 | GJB6 | c.704C>G (p.Ala235Gly) | |
| 13 | g.20222777G= | CA2077159426 | GJB6 | c.704C= (p.Ala235=) | |
| 13 | g.20222777G>T | CA387467307 | GJB6 | c.704C>A (p.Ala235Asp) | |
| 13 | g.20222778C>A | CA387467308 | GJB6 | c.703G>T (p.Ala235Ser) | |
| 13 | g.20222778C= | CA2077159429 | GJB6 | c.703G= (p.Ala235=) | |
| 13 | g.20222778C>G | CA387467310 | GJB6 | c.703G>C (p.Ala235Pro) | |
| 13 | g.20222778C>T | CA387467312 | GJB6 | c.703G>A (p.Ala235Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20222779A>C | CA387467313 | GJB6 | c.702T>G (p.His234Gln) | |
| 13 | g.20222779A>G | CA483154110 | GJB6 | c.702T>C (p.His234=) | |
| 13 | g.20222779A>T | CA387467315 | GJB6 | c.702T>A (p.His234Gln) | |
| 13 | g.20222780T>A | CA387467316 | GJB6 | c.701A>T (p.His234Leu) | |
| 13 | g.20222780T>C | CA6904390 | GJB6 | c.701A>G (p.His234Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222780T>G | CA387467318 | GJB6 | c.701A>C (p.His234Pro) | gnomAD v4 |
| 13 | g.20222780T= | CA2077159433 | GJB6 | c.701A= (p.His234=) | |
| 13 | g.20222781G>A | CA387467320 | GJB6 | c.700C>T (p.His234Tyr) | gnomAD v4 |
| 13 | g.20222781G>C | CA387467322 | GJB6 | c.700C>G (p.His234Asp) | |
| 13 | g.20222781G>T | CA387467324 | GJB6 | c.700C>A (p.His234Asn) | |
| 13 | g.20222782A>C | CA387467327 | GJB6 | c.699T>G (p.Asn233Lys) | |
| 13 | g.20222782A>G | CA483154111 | GJB6 | c.699T>C (p.Asn233=) | |
| 13 | g.20222782A>T | CA387467326 | GJB6 | c.699T>A (p.Asn233Lys) | |
| 13 | g.20222783T>A | CA387467328 | GJB6 | c.698A>T (p.Asn233Ile) | |
| 13 | g.20222783T>C | CA6904391 | GJB6 | c.698A>G (p.Asn233Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222783T>G | CA387467331 | GJB6 | c.698A>C (p.Asn233Thr) | |
| 13 | g.20222783T= | CA2077159436 | GJB6 | c.698A= (p.Asn233=) | |
| 13 | g.20222784T>A | CA387467333 | GJB6 | c.697A>T (p.Asn233Tyr) | |
| 13 | g.20222784T>C | CA387467334 | GJB6 | c.697A>G (p.Asn233Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20222784T>G | CA387467335 | GJB6 | c.697A>C (p.Asn233His) | |
| 13 | g.20222784T= | CA2077159439 | GJB6 | c.697A= (p.Asn233=) | |
| 13 | g.20222785G>A | CA483154112 | GJB6 | c.696C>T (p.Pro232=) | |
| 13 | g.20222785G>C | CA483154114 | GJB6 | c.696C>G (p.Pro232=) | |
| 13 | g.20222785G>T | CA483154113 | GJB6 | c.696C>A (p.Pro232=) | |
| 13 | g.20222786G>A | CA6904392 | GJB6 | c.695C>T (p.Pro232Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222786G>C | CA387467337 | GJB6 | c.695C>G (p.Pro232Arg) | |
| 13 | g.20222786G= | CA2077159444 | GJB6 | c.695C= (p.Pro232=) | |
| 13 | g.20222786G>T | CA10605253 | GJB6 | c.695C>A (p.Pro232His) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20222787G>A | CA6904393 | GJB6 | c.694C>T (p.Pro232Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222787G>C | CA387467341 | GJB6 | c.694C>G (p.Pro232Ala) | |
| 13 | g.20222787G= | CA2077159449 | GJB6 | c.694C= (p.Pro232=) | |
| 13 | g.20222787G>T | CA387467343 | GJB6 | c.694C>A (p.Pro232Thr) | |
| 13 | g.20222788G>A | CA483154115 | GJB6 | c.693C>T (p.His231=) | |
| 13 | g.20222788G>C | CA387467344 | GJB6 | c.693C>G (p.His231Gln) | |
| 13 | g.20222788G= | CA2077159453 | GJB6 | c.693C= (p.His231=) | |
| 13 | g.20222788G>T | CA387467345 | GJB6 | c.693C>A (p.His231Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20222789del | CA2622252283 | GJB6 | c.692del (p.His231ProfsTer6) | gnomAD v4 |
| 13 | g.20222789T>A | CA387467348 | GJB6 | c.692A>T (p.His231Leu) | dbSNP |
| 13 | g.20222789T>C | CA387467351 | GJB6 | c.692A>G (p.His231Arg) | |
| 13 | g.20222789T>G | CA387467349 | GJB6 | c.692A>C (p.His231Pro) | |
| 13 | g.20222789T= | CA2077159456 | GJB6 | c.692A= (p.His231=) | |
| 13 | g.20222790G>A | CA246490514 | GJB6 | c.691C>T (p.His231Tyr) | dbSNP COSMIC |
| 13 | g.20222790G>C | CA387467352 | GJB6 | c.691C>G (p.His231Asp) | |
| 13 | g.20222790G= | CA2077159460 | GJB6 | c.691C= (p.His231=) | |
| 13 | g.20222790G>T | CA387467354 | GJB6 | c.691C>A (p.His231Asn) | |
| 13 | g.20222791A>C | CA387467356 | GJB6 | c.690T>G (p.Asn230Lys) | |
| 13 | g.20222791A>G | CA483154116 | GJB6 | c.690T>C (p.Asn230=) | gnomAD v4 |
| 13 | g.20222791A>T | CA387467358 | GJB6 | c.690T>A (p.Asn230Lys) | |
| 13 | g.20222791_20222792delinsAT | CA2077159462 | GJB6 | c.689_690delinsAT (p.Asn230=) | |
| 13 | g.20222792T>A | CA387467362 | GJB6 | c.689A>T (p.Asn230Ile) | |
| 13 | g.20222792T>C | CA387467359 | GJB6 | c.689A>G (p.Asn230Ser) | |
| 13 | g.20222792T>G | CA387467360 | GJB6 | c.689A>C (p.Asn230Thr) | |
| 13 | g.20222798dup | CA183319 | GJB6 | c.689dup (p.Asn230LysfsTer11) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.20222798del | CA953779357 | GJB6 | c.689del (p.Asn230IlefsTer7) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20222792_20222793insA | CA483154117 | GJB6 | c.688_689insT (p.Asn230IlefsTer11) | |
| 13 | g.20222793T>A | CA387467364 | GJB6 | c.688A>T (p.Asn230Tyr) | |
| 13 | g.20222793T>C | CA387467365 | GJB6 | c.688A>G (p.Asn230Asp) | |
| 13 | g.20222793T>G | CA387467367 | GJB6 | c.688A>C (p.Asn230His) | |
| 13 | g.20222794T>A | CA387467369 | GJB6 | c.687A>T (p.Lys229Asn) | |
| 13 | g.20222794T>C | CA483154118 | GJB6 | c.687A>G (p.Lys229=) | |
| 13 | g.20222794T>G | CA6904394 | GJB6 | c.687A>C (p.Lys229Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222794T= | CA2077159470 | GJB6 | c.687A= (p.Lys229=) | |
| 13 | g.20222795T>A | CA387467371 | GJB6 | c.686A>T (p.Lys229Ile) | |
| 13 | g.20222795T>C | CA387467373 | GJB6 | c.686A>G (p.Lys229Arg) | gnomAD v4 |
| 13 | g.20222795T>G | CA6904395 | GJB6 | c.686A>C (p.Lys229Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222795T= | CA2077159473 | GJB6 | c.686A= (p.Lys229=) | |
| 13 | g.20222796T>A | CA387467375 | GJB6 | c.685A>T (p.Lys229Ter) | |
| 13 | g.20222796T>C | CA387467376 | GJB6 | c.685A>G (p.Lys229Glu) | |
| 13 | g.20222796T>G | CA387467378 | GJB6 | c.685A>C (p.Lys229Gln) | |
| 13 | g.20222797T>A | CA387467380 | GJB6 | c.684A>T (p.Gln228His) | |
| 13 | g.20222797T>C | CA483154119 | GJB6 | c.684A>G (p.Gln228=) | |
| 13 | g.20222797T>G | CA387467382 | GJB6 | c.684A>C (p.Gln228His) | |
| 13 | g.20222798T>A | CA387467383 | GJB6 | c.683A>T (p.Gln228Leu) | |
| 13 | g.20222798T>C | CA387467384 | GJB6 | c.683A>G (p.Gln228Arg) | gnomAD v4 |
| 13 | g.20222798T>G | CA387467386 | GJB6 | c.683A>C (p.Gln228Pro) | |
| 13 | g.20222799G>A | CA387467388 | GJB6 | c.682C>T (p.Gln228Ter) | gnomAD v4 |
| 13 | g.20222799G>C | CA387467390 | GJB6 | c.682C>G (p.Gln228Glu) | |
| 13 | g.20222799G>T | CA387467391 | GJB6 | c.682C>A (p.Gln228Lys) | |
| 13 | g.20222800C>A | CA483154120 | GJB6 | c.681G>T (p.Thr227=) | |
| 13 | g.20222800C= | CA2077159477 | GJB6 | c.681G= (p.Thr227=) | |
| 13 | g.20222800C>G | CA6904397 | GJB6 | c.681G>C (p.Thr227=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222800C>T | CA6904396 | GJB6 | c.681G>A (p.Thr227=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.20222801G>A | CA6904398 | GJB6 | c.680C>T (p.Thr227Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222801G>C | CA387467395 | GJB6 | c.680C>G (p.Thr227Arg) | |
| 13 | g.20222801G= | CA2077159484 | GJB6 | c.680C= (p.Thr227=) | |
| 13 | g.20222801G>T | CA387467396 | GJB6 | c.680C>A (p.Thr227Lys) | |
| 13 | g.20222802T>A | CA387467398 | GJB6 | c.679A>T (p.Thr227Ser) | |
| 13 | g.20222802T>C | CA387467400 | GJB6 | c.679A>G (p.Thr227Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20222802T>G | CA387467401 | GJB6 | c.679A>C (p.Thr227Pro) | |
| 13 | g.20222802T= | CA2077159488 | GJB6 | c.679A= (p.Thr227=) | |
| 13 | g.20222803C>A | CA387467404 | GJB6 | c.678G>T (p.Gln226His) | |
| 13 | g.20222803C>G | CA387467403 | GJB6 | c.678G>C (p.Gln226His) | |
| 13 | g.20222803C>T | CA483154121 | GJB6 | c.678G>A (p.Gln226=) | |
| 13 | g.20222804T>A | CA387467406 | GJB6 | c.677A>T (p.Gln226Leu) | dbSNP |
| 13 | g.20222804T>C | CA387467408 | GJB6 | c.677A>G (p.Gln226Arg) | |
| 13 | g.20222804T>G | CA387467409 | GJB6 | c.677A>C (p.Gln226Pro) | |
| 13 | g.20222804T= | CA2077159491 | GJB6 | c.677A= (p.Gln226=) | |
| 13 | g.20222805G>A | CA387467411 | GJB6 | c.676C>T (p.Gln226Ter) | |
| 13 | g.20222805G>C | CA387467413 | GJB6 | c.676C>G (p.Gln226Glu) | |
| 13 | g.20222805G>T | CA387467414 | GJB6 | c.676C>A (p.Gln226Lys) | |
| 13 | g.20222806T>A | CA483154122 | GJB6 | c.675A>T (p.Ala225=) | |
| 13 | g.20222806T>C | CA483154124 | GJB6 | c.675A>G (p.Ala225=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20222806T>G | CA483154123 | GJB6 | c.675A>C (p.Ala225=) | |
| 13 | g.20222806T= | CA2077159494 | GJB6 | c.675A= (p.Ala225=) | |
| 13 | g.20222807G>A | CA387467419 | GJB6 | c.674C>T (p.Ala225Val) | |
| 13 | g.20222807G>C | CA387467416 | GJB6 | c.674C>G (p.Ala225Gly) | |
| 13 | g.20222807G= | CA2077159498 | GJB6 | c.674C= (p.Ala225=) | |
| 13 | g.20222807G>T | CA387467417 | GJB6 | c.674C>A (p.Ala225Glu) | dbSNP |
| 13 | g.20222808C>A | CA387467422 | GJB6 | c.673G>T (p.Ala225Ser) | |
| 13 | g.20222808C= | CA2077159499 | GJB6 | c.673G= (p.Ala225=) | |
| 13 | g.20222808C>G | CA387467423 | GJB6 | c.673G>C (p.Ala225Pro) | gnomAD v4 |
| 13 | g.20222808C>T | CA387467424 | GJB6 | c.673G>A (p.Ala225Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20222812_20222813del | CA2622252284 | GJB6 | c.672_673del (p.Arg224SerfsTer16) | gnomAD v4 |