| X | g.71224494C>A | CA413504124 | GJB1 | c.787C>A (p.Leu263Met)
| |
| X | g.71224494C= | CA2436388578 | GJB1 | c.787C= (p.Leu263=)
| |
| X | g.71224494C>G | CA413504121 | GJB1 | c.787C>G (p.Leu263Val)
| |
| X | g.71224494C>T | CA516821279 | GJB1 | c.787C>T (p.Leu263=)
| dbSNP gnomAD v2 |
| X | g.71224495T>A | CA413504128 | GJB1 | c.788T>A (p.Leu263Gln)
| |
| X | g.71224495T>C | CA413504130 | GJB1 | c.788T>C (p.Leu263Pro)
| ClinVar |
| X | g.71224495T>G | CA413504132 | GJB1 | c.788T>G (p.Leu263Arg)
| |
| X | g.71224496G>A | CA516821280 | GJB1 | c.789G>A (p.Leu263=)
| gnomAD v4 |
| X | g.71224496G>C | CA516821282 | GJB1 | c.789G>C (p.Leu263=)
| |
| X | g.71224496G>T | CA516821281 | GJB1 | c.789G>T (p.Leu263=)
| |
| X | g.71224497C>A | CA413504135 | GJB1 | c.790C>A (p.Arg264Ser)
| gnomAD v4 |
| X | g.71224497C= | CA2436388580 | GJB1 | c.790C= (p.Arg264=)
| |
| X | g.71224497C>G | CA413504138 | GJB1 | c.790C>G (p.Arg264Gly)
| |
| X | g.71224497C>T | CA270649 | GJB1 | c.790C>T (p.Arg264Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224497_71224526delinsCGCCGCAGCCCTGGCACCGGGGCTGGGCTG | CA2436388579 | GJB1 | c.790_819delinsCGCCGCAGCCCTGGCACCGGGGCTGGGCTG (p.Arg264=)
| |
| X | g.71224498G>A | CA413504142 | GJB1 | c.791G>A (p.Arg264His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224498G>C | CA413504147 | GJB1 | c.791G>C (p.Arg264Pro)
| |
| X | g.71224498G= | CA2436388581 | GJB1 | c.791G= (p.Arg264=)
| |
| X | g.71224498G>T | CA10445342 | GJB1 | c.791G>T (p.Arg264Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224500_71224528del | CA658655589 | GJB1 | c.793_821del (p.Arg265Ter)
| ClinVar dbSNP |
| X | g.71224499C>A | CA10445343 | GJB1 | c.792C>A (p.Arg264=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224499C= | CA2436388582 | GJB1 | c.792C= (p.Arg264=)
| |
| X | g.71224499C>G | CA516821284 | GJB1 | c.792C>G (p.Arg264=)
| COSMIC |
| X | g.71224499C>T | CA10445344 | GJB1 | c.792C>T (p.Arg264=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224500C>A | CA413504156 | GJB1 | c.793C>A (p.Arg265Ser)
| gnomAD v4 |
| X | g.71224500C= | CA2436388583 | GJB1 | c.793C= (p.Arg265=)
| |
| X | g.71224500C>G | CA413504162 | GJB1 | c.793C>G (p.Arg265Gly)
| |
| X | g.71224500C>T | CA413504163 | GJB1 | c.793C>T (p.Arg265Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224501G>A | CA10445345 | GJB1 | c.794G>A (p.Arg265His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224501G>C | CA413504166 | GJB1 | c.794G>C (p.Arg265Pro)
| |
| X | g.71224501G= | CA2436388584 | GJB1 | c.794G= (p.Arg265=)
| |
| X | g.71224501G>T | CA413504168 | GJB1 | c.794G>T (p.Arg265Leu)
| COSMIC |
| X | g.71224502C>A | CA516821286 | GJB1 | c.795C>A (p.Arg265=)
| |
| X | g.71224502C>G | CA516821287 | GJB1 | c.795C>G (p.Arg265=)
| |
| X | g.71224502C>T | CA516821289 | GJB1 | c.795C>T (p.Arg265=)
| |
| X | g.71224503A>C | CA413504170 | GJB1 | c.796A>C (p.Ser266Arg)
| |
| X | g.71224503A>G | CA413504172 | GJB1 | c.796A>G (p.Ser266Gly)
| |
| X | g.71224503A>T | CA413504174 | GJB1 | c.796A>T (p.Ser266Cys)
| |
| X | g.71224504G>A | CA413504176 | GJB1 | c.797G>A (p.Ser266Asn)
| |
| X | g.71224504G>C | CA413504179 | GJB1 | c.797G>C (p.Ser266Thr)
| |
| X | g.71224504G>T | CA413504177 | GJB1 | c.797G>T (p.Ser266Ile)
| |
| X | g.71224504_71224505delinsGC | CA2436388585 | GJB1 | c.797_798delinsGC (p.Ser266=)
| |
| X | g.71224505C>A | CA330997856 | GJB1 | c.798C>A (p.Ser266Arg)
| dbSNP gnomAD v4 |
| X | g.71224505C= | CA2436388586 | GJB1 | c.798C= (p.Ser266=)
| |
| X | g.71224505C>G | CA413504182 | GJB1 | c.798C>G (p.Ser266Arg)
| |
| X | g.71224505C>T | CA516821293 | GJB1 | c.798C>T (p.Ser266=)
| |
| X | g.71224507del | CA915951226 | GJB1 | c.800del (p.Pro267LeufsTer?)
| ClinVar dbSNP |
| X | g.71224506C>A | CA413504183 | GJB1 | c.799C>A (p.Pro267Thr)
| |
| X | g.71224506C>G | CA413504185 | GJB1 | c.799C>G (p.Pro267Ala)
| |
| X | g.71224506C>T | CA413504186 | GJB1 | c.799C>T (p.Pro267Ser)
| |
| X | g.71224507C>A | CA413504189 | GJB1 | c.800C>A (p.Pro267His)
| gnomAD v4 |
| X | g.71224507C>G | CA413504190 | GJB1 | c.800C>G (p.Pro267Arg)
| gnomAD v4 |
| X | g.71224507C>T | CA413504192 | GJB1 | c.800C>T (p.Pro267Leu)
| |
| X | g.71224508T>A | CA516821295 | GJB1 | c.801T>A (p.Pro267=)
| |
| X | g.71224508T>C | CA516821298 | GJB1 | c.801T>C (p.Pro267=)
| gnomAD v4 |
| X | g.71224508T>G | CA516821296 | GJB1 | c.801T>G (p.Pro267=)
| |
| X | g.71224509G>A | CA413504196 | GJB1 | c.802G>A (p.Gly268Ser)
| |
| X | g.71224509G>C | CA413504199 | GJB1 | c.802G>C (p.Gly268Arg)
| |
| X | g.71224509G>T | CA413504201 | GJB1 | c.802G>T (p.Gly268Cys)
| |
| X | g.71224510G>A | CA413504204 | GJB1 | c.803G>A (p.Gly268Asp)
| gnomAD v4 |
| X | g.71224510G>C | CA413504207 | GJB1 | c.803G>C (p.Gly268Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224510G= | CA2436388587 | GJB1 | c.803G= (p.Gly268=)
| |
| X | g.71224510G>T | CA413504209 | GJB1 | c.803G>T (p.Gly268Val)
| gnomAD v4 |
| X | g.71224510_71224511del | CA2695234579 | GJB1 | c.803_804del (p.Gly268AspfsTer7)
| |
| X | g.71224511C>A | CA516821301 | GJB1 | c.804C>A (p.Gly268=)
| |
| X | g.71224511C>G | CA516821302 | GJB1 | c.804C>G (p.Gly268=)
| |
| X | g.71224511C>T | CA516821303 | GJB1 | c.804C>T (p.Gly268=)
| ClinVar |
| X | g.71224512A>C | CA413504211 | GJB1 | c.805A>C (p.Thr269Pro)
| |
| X | g.71224512A>G | CA413504216 | GJB1 | c.805A>G (p.Thr269Ala)
| |
| X | g.71224512A>T | CA413504214 | GJB1 | c.805A>T (p.Thr269Ser)
| gnomAD v4 |
| X | g.71224513C>A | CA413504219 | GJB1 | c.806C>A (p.Thr269Asn)
| gnomAD v4 |
| X | g.71224513C>G | CA413504221 | GJB1 | c.806C>G (p.Thr269Ser)
| |
| X | g.71224513C>T | CA413504223 | GJB1 | c.806C>T (p.Thr269Ile)
| gnomAD v4 |
| X | g.71224513_71224515delinsCCG | CA2436388588 | GJB1 | c.806_808delinsCCG (p.Thr269=)
| |
| X | g.71224514C>A | CA516821305 | GJB1 | c.807C>A (p.Thr269=)
| dbSNP gnomAD v4 |
| X | g.71224514C= | CA2436388589 | GJB1 | c.807C= (p.Thr269=)
| |
| X | g.71224514C>G | CA516821306 | GJB1 | c.807C>G (p.Thr269=)
| |
| X | g.71224514C>T | CA10445346 | GJB1 | c.807C>T (p.Thr269=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.71224514_71224515del | CA915951227 | GJB1 | c.807_808del (p.Ala271TrpfsTer4)
| ClinVar dbSNP |
| X | g.71224515G>A | CA413504227 | GJB1 | c.808G>A (p.Gly270Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.71224515G>C | CA413504229 | GJB1 | c.808G>C (p.Gly270Arg)
| dbSNP gnomAD v4 |
| X | g.71224515G= | CA2436388590 | GJB1 | c.808G= (p.Gly270=)
| |
| X | g.71224515G>T | CA413504231 | GJB1 | c.808G>T (p.Gly270Trp)
| gnomAD v4 |
| X | g.71224518del | CA2695234580 | GJB1 | c.811del (p.Ala271LeufsTer?)
| |
| X | g.71224516G>A | CA413504235 | GJB1 | c.809G>A (p.Gly270Glu)
| |
| X | g.71224516G>C | CA413504238 | GJB1 | c.809G>C (p.Gly270Ala)
| gnomAD v4 |
| X | g.71224516G>T | CA413504239 | GJB1 | c.809G>T (p.Gly270Val)
| gnomAD v4 |
| X | g.71224523_71224527dup | CA2695234582 | GJB1 | c.816_820dup (p.Ala274GlyfsTer?)
| |
| X | g.71224523_71224527del | CA2695234581 | GJB1 | c.816_820del (p.Leu273Ter)
| |
| X | g.71224517G>A | CA516821308 | GJB1 | c.810G>A (p.Gly270=)
| |
| X | g.71224517G>C | CA516821309 | GJB1 | c.810G>C (p.Gly270=)
| |
| X | g.71224517G>T | CA516821310 | GJB1 | c.810G>T (p.Gly270=)
| |
| X | g.71224518G>A | CA10445347 | GJB1 | c.811G>A (p.Ala271Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224518G>C | CA413504248 | GJB1 | c.811G>C (p.Ala271Pro)
| |
| X | g.71224518G= | CA2436388591 | GJB1 | c.811G= (p.Ala271=)
| |
| X | g.71224518G>T | CA413504242 | GJB1 | c.811G>T (p.Ala271Ser)
| ClinVar |
| X | g.71224519C>A | CA413504252 | GJB1 | c.812C>A (p.Ala271Asp)
| gnomAD v4 |
| X | g.71224519C>G | CA413504255 | GJB1 | c.812C>G (p.Ala271Gly)
| |
| X | g.71224519C>T | CA413504258 | GJB1 | c.812C>T (p.Ala271Val)
| |
| X | g.71224520T>A | CA516821311 | GJB1 | c.813T>A (p.Ala271=)
| |
| X | g.71224520T>C | CA516821312 | GJB1 | c.813T>C (p.Ala271=)
| dbSNP |
| X | g.71224520T>G | CA516821314 | GJB1 | c.813T>G (p.Ala271=)
| |
| X | g.71224520T= | CA2436388592 | GJB1 | c.813T= (p.Ala271=)
| |
| X | g.71224521G>A | CA413504262 | GJB1 | c.814G>A (p.Gly272Arg)
| gnomAD v4 |
| X | g.71224521G>C | CA413504267 | GJB1 | c.814G>C (p.Gly272Arg)
| |
| X | g.71224521G>T | CA413504270 | GJB1 | c.814G>T (p.Gly272Trp)
| gnomAD v4 |
| X | g.71224522G>A | CA413504272 | GJB1 | c.815G>A (p.Gly272Glu)
| |
| X | g.71224522G>C | CA413504275 | GJB1 | c.815G>C (p.Gly272Ala)
| dbSNP |
| X | g.71224522G= | CA2436388593 | GJB1 | c.815G= (p.Gly272=)
| |
| X | g.71224522G>T | CA413504276 | GJB1 | c.815G>T (p.Gly272Val)
| |
| X | g.71224523G>A | CA516821318 | GJB1 | c.816G>A (p.Gly272=)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224523G>C | CA516821320 | GJB1 | c.816G>C (p.Gly272=)
| |
| X | g.71224523G= | CA2436388594 | GJB1 | c.816G= (p.Gly272=)
| |
| X | g.71224523G>T | CA516821322 | GJB1 | c.816G>T (p.Gly272=)
| |
| X | g.71224524C>A | CA413504279 | GJB1 | c.817C>A (p.Leu273Met)
| |
| X | g.71224524C= | CA2436388595 | GJB1 | c.817C= (p.Leu273=)
| |
| X | g.71224524C>G | CA413504282 | GJB1 | c.817C>G (p.Leu273Val)
| |
| X | g.71224524C>T | CA516821323 | GJB1 | c.817C>T (p.Leu273=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224525T>A | CA413504287 | GJB1 | c.818T>A (p.Leu273Gln)
| |
| X | g.71224525T>C | CA413504289 | GJB1 | c.818T>C (p.Leu273Pro)
| gnomAD v4 |
| X | g.71224525T>G | CA413504286 | GJB1 | c.818T>G (p.Leu273Arg)
| |
| X | g.71224526G>A | CA516821324 | GJB1 | c.819G>A (p.Leu273=)
| |
| X | g.71224526G>C | CA516821325 | GJB1 | c.819G>C (p.Leu273=)
| dbSNP |
| X | g.71224526G= | CA2436388596 | GJB1 | c.819G= (p.Leu273=)
| |
| X | g.71224526G>T | CA516821326 | GJB1 | c.819G>T (p.Leu273=)
| |
| X | g.71224527del | CA2579640068 | GJB1 | c.820del (p.Ala274LeufsTer?)
| |
| X | g.71224527G>A | CA413504292 | GJB1 | c.820G>A (p.Ala274Thr)
| gnomAD v4 |
| X | g.71224527G>C | CA413504295 | GJB1 | c.820G>C (p.Ala274Pro)
| gnomAD v4 |
| X | g.71224527G>T | CA413504297 | GJB1 | c.820G>T (p.Ala274Ser)
| gnomAD v4 |
| X | g.71224528C>A | CA413504301 | GJB1 | c.821C>A (p.Ala274Asp)
| gnomAD v4 |
| X | g.71224528C>G | CA413504304 | GJB1 | c.821C>G (p.Ala274Gly)
| |
| X | g.71224528C>T | CA413504308 | GJB1 | c.821C>T (p.Ala274Val)
| |
| X | g.71224528_71224529delinsCT | CA2436388597 | GJB1 | c.821_822delinsCT (p.Ala274=)
| |
| X | g.71224529del | CA915951228 | GJB1 | c.822del (p.Glu275LysfsTer?)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224529T>A | CA516820957 | GJB1 | c.822T>A (p.Ala274=)
| |
| X | g.71224529T>C | CA516820959 | GJB1 | c.822T>C (p.Ala274=)
| gnomAD v4 |
| X | g.71224529T>G | CA516820961 | GJB1 | c.822T>G (p.Ala274=)
| |
| X | g.71224530G>A | CA413504311 | GJB1 | c.823G>A (p.Glu275Lys)
| |
| X | g.71224530G>C | CA10445348 | GJB1 | c.823G>C (p.Glu275Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224530G= | CA2436388598 | GJB1 | c.823G= (p.Glu275=)
| |
| X | g.71224530G>T | CA413504321 | GJB1 | c.823G>T (p.Glu275Ter)
| gnomAD v4 |
| X | g.71224531A= | CA2436388599 | GJB1 | c.824A= (p.Glu275=)
| |
| X | g.71224531A>C | CA413504335 | GJB1 | c.824A>C (p.Glu275Ala)
| |
| X | g.71224531A>G | CA10445349 | GJB1 | c.824A>G (p.Glu275Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224531A>T | CA413504339 | GJB1 | c.824A>T (p.Glu275Val)
| |
| X | g.71224534del | CA2579640069 | GJB1 | c.827del (p.Lys276ArgfsTer?)
| gnomAD v4 |
| X | g.71224532A>C | CA413504341 | GJB1 | c.825A>C (p.Glu275Asp)
| |
| X | g.71224532A>G | CA516820967 | GJB1 | c.825A>G (p.Glu275=)
| ClinVar gnomAD v4 |
| X | g.71224532A>T | CA413504343 | GJB1 | c.825A>T (p.Glu275Asp)
| |
| X | g.71224533A>C | CA413504348 | GJB1 | c.826A>C (p.Lys276Gln)
| |
| X | g.71224533A>G | CA413504353 | GJB1 | c.826A>G (p.Lys276Glu)
| |
| X | g.71224533A>T | CA413504347 | GJB1 | c.826A>T (p.Lys276Ter)
| |
| X | g.71224534A>C | CA413504365 | GJB1 | c.827A>C (p.Lys276Thr)
| |
| X | g.71224534A>G | CA413504358 | GJB1 | c.827A>G (p.Lys276Arg)
| gnomAD v4 |
| X | g.71224534A>T | CA413504362 | GJB1 | c.827A>T (p.Lys276Met)
| |
| X | g.71224535G>A | CA516820971 | GJB1 | c.828G>A (p.Lys276=)
| |
| X | g.71224535G>C | CA413504370 | GJB1 | c.828G>C (p.Lys276Asn)
| gnomAD v4 |
| X | g.71224535G>T | CA413504371 | GJB1 | c.828G>T (p.Lys276Asn)
| |
| X | g.71224536A>C | CA413504378 | GJB1 | c.829A>C (p.Ser277Arg)
| |
| X | g.71224536A>G | CA413504380 | GJB1 | c.829A>G (p.Ser277Gly)
| |
| X | g.71224536A>T | CA413504385 | GJB1 | c.829A>T (p.Ser277Cys)
| |
| X | g.71224536_71224549del | CA2695234583 | GJB1 | c.829_842del (p.Ser277GlyfsTer?)
| |
| X | g.71224537G>A | CA10445350 | GJB1 | c.830G>A (p.Ser277Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224537G>C | CA413504390 | GJB1 | c.830G>C (p.Ser277Thr)
| |
| X | g.71224537G= | CA2436388600 | GJB1 | c.830G= (p.Ser277=)
| |
| X | g.71224537G>T | CA413504394 | GJB1 | c.830G>T (p.Ser277Ile)
| gnomAD v4 |
| X | g.71224539_71224547del | CA2695234584 | GJB1 | c.832_840del (p.Asp278_Cys280del)
| |
| X | g.71224538C>A | CA413504399 | GJB1 | c.831C>A (p.Ser277Arg)
| gnomAD v4 COSMIC |
| X | g.71224538C= | CA2436388601 | GJB1 | c.831C= (p.Ser277=)
| |
| X | g.71224538C>G | CA413504403 | GJB1 | c.831C>G (p.Ser277Arg)
| |
| X | g.71224538C>T | CA516820974 | GJB1 | c.831C>T (p.Ser277=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.71224540_71224543del | CA2695234585 | GJB1 | c.833_836del (p.Asp278AlafsTer?)
| |
| X | g.71224539G>A | CA413504407 | GJB1 | c.832G>A (p.Asp278Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224539G>C | CA413504409 | GJB1 | c.832G>C (p.Asp278His)
| |
| X | g.71224539G= | CA2436388602 | GJB1 | c.832G= (p.Asp278=)
| |
| X | g.71224539G>T | CA413504412 | GJB1 | c.832G>T (p.Asp278Tyr)
| gnomAD v4 |
| X | g.71224540A>C | CA413504416 | GJB1 | c.833A>C (p.Asp278Ala)
| |
| X | g.71224540A>G | CA413504422 | GJB1 | c.833A>G (p.Asp278Gly)
| |
| X | g.71224540A>T | CA413504418 | GJB1 | c.833A>T (p.Asp278Val)
| |
| X | g.71224541C>A | CA413504425 | GJB1 | c.834C>A (p.Asp278Glu)
| ClinVar dbSNP |
| X | g.71224541C= | CA2436388603 | GJB1 | c.834C= (p.Asp278=)
| |
| X | g.71224541C>G | CA413504428 | GJB1 | c.834C>G (p.Asp278Glu)
| dbSNP gnomAD v2 |
| X | g.71224541C>T | CA516820980 | GJB1 | c.834C>T (p.Asp278=)
| |
| X | g.71224542dup | CA2695234586 | GJB1 | c.835dup (p.Arg279ProfsTer?)
| |
| X | g.71224542C>A | CA413504431 | GJB1 | c.835C>A (p.Arg279Ser)
| gnomAD v4 |
| X | g.71224542C= | CA2436388604 | GJB1 | c.835C= (p.Arg279=)
| |
| X | g.71224542C>G | CA413504434 | GJB1 | c.835C>G (p.Arg279Gly)
| |
| X | g.71224542C>T | CA330997860 | GJB1 | c.835C>T (p.Arg279Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224543G>A | CA330997861 | GJB1 | c.836G>A (p.Arg279His)
| dbSNP gnomAD v4 |
| X | g.71224543G>C | CA413504441 | GJB1 | c.836G>C (p.Arg279Pro)
| |
| X | g.71224543G= | CA2436388605 | GJB1 | c.836G= (p.Arg279=)
| |
| X | g.71224543G>T | CA413504444 | GJB1 | c.836G>T (p.Arg279Leu)
| ClinVar gnomAD v4 |
| X | g.71224544C>A | CA516820990 | GJB1 | c.837C>A (p.Arg279=)
| dbSNP |
| X | g.71224544C= | CA2436388606 | GJB1 | c.837C= (p.Arg279=)
| |
| X | g.71224544C>G | CA516820988 | GJB1 | c.837C>G (p.Arg279=)
| ClinVar |
| X | g.71224544C>T | CA516820986 | GJB1 | c.837C>T (p.Arg279=)
| ClinVar dbSNP |
| X | g.71224545T>A | CA413504448 | GJB1 | c.838T>A (p.Cys280Ser)
| |
| X | g.71224545T>C | CA413504450 | GJB1 | c.838T>C (p.Cys280Arg)
| gnomAD v4 |
| X | g.71224545T>G | CA413504453 | GJB1 | c.838T>G (p.Cys280Gly)
| ClinVar dbSNP |
| X | g.71224545T= | CA2436388607 | GJB1 | c.838T= (p.Cys280=)
| |
| X | g.71224546G>A | CA413504456 | GJB1 | c.839G>A (p.Cys280Tyr)
| |
| X | g.71224546G>C | CA413504460 | GJB1 | c.839G>C (p.Cys280Ser)
| |
| X | g.71224546G>T | CA413504458 | GJB1 | c.839G>T (p.Cys280Phe)
| gnomAD v4 |
| X | g.71224548_71224552del | CA2695234587 | GJB1 | c.841_845del (p.Ser281LeufsTer?)
| |
| X | g.71224547C>A | CA413504463 | GJB1 | c.840C>A (p.Cys280Ter)
| gnomAD v4 |
| X | g.71224547C>G | CA413504465 | GJB1 | c.840C>G (p.Cys280Trp)
| |
| X | g.71224547C>T | CA516820997 | GJB1 | c.840C>T (p.Cys280=)
| |
| X | g.71224548T>A | CA413504467 | GJB1 | c.841T>A (p.Ser281Thr)
| |
| X | g.71224548T>C | CA413504470 | GJB1 | c.841T>C (p.Ser281Pro)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224548T>G | CA413504473 | GJB1 | c.841T>G (p.Ser281Ala)
| |
| X | g.71224548T= | CA2436388608 | GJB1 | c.841T= (p.Ser281=)
| |
| X | g.71224548_71224552delinsTCGGC | CA2436388609 | GJB1 | c.841_845delinsTCGGC (p.Ser281=)
| |
| X | g.71224549C>A | CA413504477 | GJB1 | c.842C>A (p.Ser281Ter)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224549C= | CA2436388610 | GJB1 | c.842C= (p.Ser281=)
| |
| X | g.71224549C>G | CA413504481 | GJB1 | c.842C>G (p.Ser281Trp)
| dbSNP gnomAD v4 |
| X | g.71224549C>T | CA330997863 | GJB1 | c.842C>T (p.Ser281Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224549dup | CA891844224 | GJB1 | c.842dup (p.Ala282GlyfsTer?)
| ClinVar dbSNP |
| X | g.71224550_71224553del | CA915951229 | GJB1 | c.843_846del (p.Cys283AspfsTer?)
| ClinVar dbSNP |
| X | g.71224550G>A | CA10445351 | GJB1 | c.843G>A (p.Ser281=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224550G>C | CA516821001 | GJB1 | c.843G>C (p.Ser281=)
| gnomAD v4 |
| X | g.71224550G= | CA2436388611 | GJB1 | c.843G= (p.Ser281=)
| |
| X | g.71224550G>T | CA516821002 | GJB1 | c.843G>T (p.Ser281=)
| gnomAD v4 |
| X | g.71224551dup | CA915951230 | GJB1 | c.844dup (p.Ala282GlyfsTer?)
| ClinVar dbSNP |
| X | g.71224551del | CA2695234588 | GJB1 | c.844del (p.Ala282ProfsTer?)
| |
| X | g.71224551G>A | CA413504488 | GJB1 | c.844G>A (p.Ala282Thr)
| gnomAD v4 |
| X | g.71224551G>C | CA413504492 | GJB1 | c.844G>C (p.Ala282Pro)
| |
| X | g.71224551G>T | CA413504495 | GJB1 | c.844G>T (p.Ala282Ser)
| |
| X | g.71224552C>A | CA413504504 | GJB1 | c.845C>A (p.Ala282Asp)
| |
| X | g.71224552C= | CA2436388612 | GJB1 | c.845C= (p.Ala282=)
| |
| X | g.71224552C>G | CA413504498 | GJB1 | c.845C>G (p.Ala282Gly)
| |
| X | g.71224552C>T | CA413504501 | GJB1 | c.845C>T (p.Ala282Val)
| dbSNP |
| X | g.71224553C>A | CA516821005 | GJB1 | c.846C>A (p.Ala282=)
| gnomAD v4 |
| X | g.71224553C>G | CA516821006 | GJB1 | c.846C>G (p.Ala282=)
| |
| X | g.71224553C>T | CA516821007 | GJB1 | c.846C>T (p.Ala282=)
| |
| X | g.71224554T>A | CA413504507 | GJB1 | c.847T>A (p.Cys283Ser)
| |
| X | g.71224554T>C | CA413504509 | GJB1 | c.847T>C (p.Cys283Arg)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224554T>G | CA413504513 | GJB1 | c.847T>G (p.Cys283Gly)
| |
| X | g.71224555G>A | CA413504517 | GJB1 | c.848G>A (p.Cys283Tyr)
| gnomAD v4 |
| X | g.71224555G>C | CA413504520 | GJB1 | c.848G>C (p.Cys283Ser)
| |
| X | g.71224555G>T | CA413504523 | GJB1 | c.848G>T (p.Cys283Phe)
| gnomAD v4 |
| X | g.71224556C>A | CA413504526 | GJB1 | c.849C>A (p.Cys283Ter)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224556C= | CA2436388613 | GJB1 | c.849C= (p.Cys283=)
| |
| X | g.71224556C>G | CA413504529 | GJB1 | c.849C>G (p.Cys283Trp)
| |
| X | g.71224556C>T | CA10445352 | GJB1 | c.849C>T (p.Cys283=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224557T>A | CA413504535 | GJB1 | c.850T>A (p.Ter284Arg)
| |
| X | g.71224557T>C | CA413504536 | GJB1 | c.850T>C (p.Ter284Arg)
| gnomAD v4 |
| X | g.71224557T>G | CA413504541 | GJB1 | c.850T>G (p.Ter284Gly)
| |
| X | g.71224558G>A | CA10445353 | GJB1 | c.851G>A (p.Ter284=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224558G>C | CA413504549 | GJB1 | c.851G>C (p.Ter284Ser)
| ClinVar |
| X | g.71224558G= | CA2436388614 | GJB1 | c.851G= (p.Ter284=)
| |
| X | g.71224558G>T | CA413504544 | GJB1 | c.851G>T (p.Ter284Leu)
| gnomAD v4 |
| X | g.71224559A>C | CA413504557 | GJB1 | c.852A>C (p.Ter284Cys)
| |
| X | g.71224559A>G | CA413504554 | GJB1 | c.852A>G (p.Ter284Trp)
| ClinVar |
| X | g.71224559A>T | CA413504559 | GJB1 | c.852A>T (p.Ter284Cys)
| gnomAD v4 |
| X | g.71224560T>A | CA2694032257 | GJB1 | c.*1T>A (n.*1T>A)
| gnomAD v4 |
| X | g.71224561G>A | CA2694032258 | GJB1 | c.*2G>A (n.*2G>A)
| gnomAD v4 |
| X | g.71224561G>T | CA2694032259 | GJB1 | c.*2G>T (n.*2G>T)
| gnomAD v4 |
| X | g.71224562C>A | CA2821723812 | GJB1 | c.*3C>A (n.*3C>A)
| |
| X | g.71224562C= | CA2436388616 | GJB1 | c.*3C= (n.*3C=)
| |
| X | g.71224562C>T | CA2436388615 | GJB1 | c.*3C>T (n.*3C>T)
| dbSNP gnomAD v4 |
| X | g.71224563del | CA2694032260 | GJB1 | c.*4del (n.*4del)
| gnomAD v4 |
| X | g.71224563C>A | CA2694032261 | GJB1 | c.*4C>A (n.*4C>A)
| gnomAD v4 |
| X | g.71224563C= | CA2436388617 | GJB1 | c.*4C= (n.*4C=)
| |
| X | g.71224563C>T | CA641958733 | GJB1 | c.*4C>T (n.*4C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224564A= | CA2436388618 | GJB1 | c.*5A= (n.*5A=)
| |
| X | g.71224564A>G | CA1134115574 | GJB1 | c.*5A>G (n.*5A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224564A>T | CA2694032262 | GJB1 | c.*5A>T (n.*5A>T)
| gnomAD v4 |
| X | g.71224564_71224565delinsAC | CA2436388619 | GJB1 | c.*5_*6delinsAC (n.*5_*6delinsAC)
| |
| X | g.71224565del | CA2436388620 | GJB1 | c.*6del (n.*6del)
| dbSNP |
| X | g.71224565C>A | CA2579640070 | GJB1 | c.*6C>A (n.*6C>A)
| gnomAD v4 |
| X | g.71224566A= | CA2436388621 | GJB1 | c.*7A= (n.*7A=)
| |
| X | g.71224566A>G | CA330997864 | GJB1 | c.*7A>G (n.*7A>G)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224567T>A | CA2694032263 | GJB1 | c.*8T>A (n.*8T>A)
| gnomAD v4 |
| X | g.71224567T>C | CA2694032264 | GJB1 | c.*8T>C (n.*8T>C)
| gnomAD v4 |
| X | g.71224567T>G | CA2579640071 | GJB1 | c.*8T>G (n.*8T>G)
| |
| X | g.71224568A>G | CA2694032265 | GJB1 | c.*9A>G (n.*9A>G)
| gnomAD v4 |
| X | g.71224568_71224569del | CA2579640072 | GJB1 | c.*9_*10del (n.*9_*10del)
| |
| X | g.71224569C>A | CA2694032266 | GJB1 | c.*10C>A (n.*10C>A)
| gnomAD v4 |
| X | g.71224569C>G | CA2821723813 | GJB1 | c.*10C>G (n.*10C>G)
| |
| X | g.71224569C>T | CA2694032267 | GJB1 | c.*10C>T (n.*10C>T)
| gnomAD v4 |
| X | g.71224570del | CA2579640073 | GJB1 | c.*11del (n.*11del)
| gnomAD v4 |
| X | g.71224570C>A | CA2694032268 | GJB1 | c.*11C>A (n.*11C>A)
| gnomAD v4 |
| X | g.71224571A>G | CA2694032269 | GJB1 | c.*12A>G (n.*12A>G)
| gnomAD v4 |
| X | g.71224572G>A | CA2694032270 | GJB1 | c.*13G>A (n.*13G>A)
| gnomAD v4 |
| X | g.71224572_71224573del | CA2821723814 | GJB1 | c.*13_*14del (n.*13_*14del)
| |
| X | g.71224573G>A | CA2694032271 | GJB1 | c.*14G>A (n.*14G>A)
| gnomAD v4 |
| X | g.71224573G>C | CA2530608750 | GJB1 | c.*14G>C (n.*14G>C)
| |
| X | g.71224573G>T | CA2694032272 | GJB1 | c.*14G>T (n.*14G>T)
| gnomAD v4 |
| X | g.71224574C>A | CA2694032273 | GJB1 | c.*15C>A (n.*15C>A)
| gnomAD v4 |
| X | g.71224574C= | CA2436388622 | GJB1 | c.*15C= (n.*15C=)
| |
| X | g.71224574C>T | CA16609212 | GJB1 | c.*15C>T (n.*15C>T)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224574_71224575insT | CA657730598 | GJB1 | c.*15_*16insT (n.*15_*16insT)
| COSMIC |
| X | g.71224574_71224575insCCA | CA2821723815 | GJB1 | c.*15_*16insCCA (n.*15_*16insCCA)
| |
| X | g.71224576del | CA2694032274 | GJB1 | c.*17del (n.*17del)
| gnomAD v4 |
| X | g.71224576_71224595del | CA2694032275 | GJB1 | c.*17_*36del (n.*17_*36del)
| gnomAD v4 |
| X | g.71224576A>C | CA2694032276 | GJB1 | c.*17A>C (n.*17A>C)
| gnomAD v4 |
| X | g.71224576A>G | CA2579640074 | GJB1 | c.*17A>G (n.*17A>G)
| |
| X | g.71224577C>A | CA2694032277 | GJB1 | c.*18C>A (n.*18C>A)
| gnomAD v4 |
| X | g.71224577C= | CA2436388623 | GJB1 | c.*18C= (n.*18C=)
| |
| X | g.71224577C>G | CA1139667648 | GJB1 | c.*18C>G (n.*18C>G)
| ClinVar dbSNP |
| X | g.71224577_71224578insA | CA2821723816 | GJB1 | c.*18_*19insA (n.*18_*19insA)
| |
| X | g.71224578C>A | CA2694032278 | GJB1 | c.*19C>A (n.*19C>A)
| gnomAD v4 |
| X | g.71224578C= | CA2436388625 | GJB1 | c.*19C= (n.*19C=)
| |
| X | g.71224578C>G | CA10445354 | GJB1 | c.*19C>G (n.*19C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224578C>T | CA2436388624 | GJB1 | c.*19C>T (n.*19C>T)
| dbSNP |
| X | g.71224583_71224625del | CA2694032279 | GJB1 | c.*24_*66del (n.*24_*66del)
| gnomAD v4 |
| X | g.71224579T>A | CA2694032280 | GJB1 | c.*20T>A (n.*20T>A)
| gnomAD v4 |
| X | g.71224579T>G | CA2821723818 | GJB1 | c.*20T>G (n.*20T>G)
| |
| X | g.71224580C>A | CA2694032282 | GJB1 | c.*21C>A (n.*21C>A)
| gnomAD v4 |
| X | g.71224580C>T | CA2579640075 | GJB1 | c.*21C>T (n.*21C>T)
| gnomAD v4 |
| X | g.71224582del | CA2694032281 | GJB1 | c.*23del (n.*23del)
| gnomAD v4 |
| X | g.71224583_71224592del | CA2821723819 | GJB1 | c.*24_*33del (n.*24_*33del)
| |
| X | g.71224581C>A | CA2694032284 | GJB1 | c.*22C>A (n.*22C>A)
| gnomAD v4 |
| X | g.71224581C= | CA2436388626 | GJB1 | c.*22C= (n.*22C=)
| |
| X | g.71224581C>T | CA10445355 | GJB1 | c.*22C>T (n.*22C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224583_71224602del | CA2694032283 | GJB1 | c.*24_*43del (n.*24_*43del)
| gnomAD v4 |
| X | g.71224582C>A | CA2694032285 | GJB1 | c.*23C>A (n.*23C>A)
| gnomAD v4 |
| X | g.71224583A= | CA2436388627 | GJB1 | c.*24A= (n.*24A=)
| |
| X | g.71224583A>C | CA1134115584 | GJB1 | c.*24A>C (n.*24A>C)
| gnomAD v3 gnomAD v4 |
| X | g.71224583A>G | CA641958734 | GJB1 | c.*24A>G (n.*24A>G)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224583_71224584del | CA2694032286 | GJB1 | c.*24_*25del (n.*24_*25del)
| gnomAD v4 |
| X | g.71224584T>A | CA2821723822 | GJB1 | c.*25T>A (n.*25T>A)
| |
| X | g.71224584T>C | CA2694032287 | GJB1 | c.*25T>C (n.*25T>C)
| gnomAD v4 |
| X | g.71224584T>G | CA2694032288 | GJB1 | c.*25T>G (n.*25T>G)
| gnomAD v4 |
| X | g.71224584_71224585insGG | CA2821723823 | GJB1 | c.*25_*26insGG (n.*25_*26insGG)
| |
| X | g.71224585C>A | CA2694032289 | GJB1 | c.*26C>A (n.*26C>A)
| gnomAD v4 |
| X | g.71224585C= | CA2436388628 | GJB1 | c.*26C= (n.*26C=)
| |
| X | g.71224585C>G | CA1134115595 | GJB1 | c.*26C>G (n.*26C>G)
| gnomAD v3 gnomAD v4 |
| X | g.71224585C>T | CA641958735 | GJB1 | c.*26C>T (n.*26C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224587del | CA2502431823 | GJB1 | c.*28del (n.*28del)
| gnomAD v4 |
| X | g.71224588_71224592del | CA2694032290 | GJB1 | c.*29_*33del (n.*29_*33del)
| gnomAD v4 |
| X | g.71224585_71224586insGG | CA2694032291 | GJB1 | c.*26_*27insGG (n.*26_*27insGG)
| gnomAD v4 |
| X | g.71224586C>A | CA2514497048 | GJB1 | c.*27C>A (n.*27C>A)
| gnomAD v4 |
| X | g.71224586C= | CA2436388629 | GJB1 | c.*27C= (n.*27C=)
| |
| X | g.71224586C>G | CA2694032292 | GJB1 | c.*27C>G (n.*27C>G)
| gnomAD v4 |
| X | g.71224586C>T | CA641958736 | GJB1 | c.*27C>T (n.*27C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224587C>A | CA2579640076 | GJB1 | c.*28C>A (n.*28C>A)
| gnomAD v4 |
| X | g.71224587C>T | CA2579640077 | GJB1 | c.*28C>T (n.*28C>T)
| gnomAD v4 |
| X | g.71224588_71224589del | CA2821723827 | GJB1 | c.*29_*30del (n.*29_*30del)
| |
| X | g.71224588A= | CA2436388630 | GJB1 | c.*29A= (n.*29A=)
| |
| X | g.71224588A>C | CA10445356 | GJB1 | c.*29A>C (n.*29A>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224588A>G | CA2579640078 | GJB1 | c.*29A>G (n.*29A>G)
| gnomAD v4 |
| X | g.71224588A>T | CA2533572986 | GJB1 | c.*29A>T (n.*29A>T)
| |
| X | g.71224589C>A | CA877837017 | GJB1 | c.*30C>A (n.*30C>A)
| dbSNP gnomAD v4 |
| X | g.71224589C= | CA2436388631 | GJB1 | c.*30C= (n.*30C=)
| |
| X | g.71224589C>G | CA2694032293 | GJB1 | c.*30C>G (n.*30C>G)
| gnomAD v4 |
| X | g.71224589C>T | CA330997866 | GJB1 | c.*30C>T (n.*30C>T)
| dbSNP gnomAD v4 |
| X | g.71224593dup | CA657730604 | GJB1 | c.*34dup (n.*34dup)
| COSMIC |
| X | g.71224593del | CA2694032294 | GJB1 | c.*34del (n.*34del)
| gnomAD v4 |
| X | g.71224590C>A | CA2694032295 | GJB1 | c.*31C>A (n.*31C>A)
| gnomAD v4 |
| X | g.71224590C>T | CA2694032296 | GJB1 | c.*31C>T (n.*31C>T)
| gnomAD v4 |
| X | g.71224591C>A | CA877837018 | GJB1 | c.*32C>A (n.*32C>A)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224591C= | CA2436388632 | GJB1 | c.*32C= (n.*32C=)
| |
| X | g.71224591C>T | CA2694032297 | GJB1 | c.*32C>T (n.*32C>T)
| gnomAD v4 |
| X | g.71224592C>A | CA2694032298 | GJB1 | c.*33C>A (n.*33C>A)
| gnomAD v4 |
| X | g.71224592C= | CA2436388633 | GJB1 | c.*33C= (n.*33C=)
| |
| X | g.71224592C>T | CA641958737 | GJB1 | c.*33C>T (n.*33C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224593C>A | CA10445357 | GJB1 | c.*34C>A (n.*34C>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224593C= | CA2436388634 | GJB1 | c.*34C= (n.*34C=)
| |
| X | g.71224593C>T | CA2436388635 | GJB1 | c.*34C>T (n.*34C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224593_71224594insA | CA641958738 | GJB1 | c.*34_*35insA (n.*34_*35insA)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224594G>A | CA10445358 | GJB1 | c.*35G>A (n.*35G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224594G>C | CA641958739 | GJB1 | c.*35G>C (n.*35G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224594G= | CA2436388636 | GJB1 | c.*35G= (n.*35G=)
| |
| X | g.71224594G>T | CA2694032299 | GJB1 | c.*35G>T (n.*35G>T)
| gnomAD v4 |
