| X | g.71223657_71223971del | CA2739273574 | GJB1 | c.-16-35_264del
| ClinVar |
| X | g.71223783T>A | CA413500789 | GJB1 | c.76T>A (p.Ser26Thr)
| |
| X | g.71223783T>C | CA413500791 | GJB1 | c.76T>C (p.Ser26Pro)
| |
| X | g.71223783T>G | CA413500795 | GJB1 | c.76T>G (p.Ser26Ala)
| |
| X | g.71223783_71223784delinsTC | CA2436388130 | GJB1 | c.76_77delinsTC (p.Ser26=)
| |
| X | g.71223784del | CA915951173 | GJB1 | c.77del (p.Ser26TrpfsTer?)
| ClinVar dbSNP |
| X | g.71223784C>A | CA413500798 | GJB1 | c.77C>A (p.Ser26Ter)
| ClinVar dbSNP |
| X | g.71223784C= | CA2436388131 | GJB1 | c.77C= (p.Ser26=)
| |
| X | g.71223784C>G | CA413500799 | GJB1 | c.77C>G (p.Ser26Trp)
| ClinVar dbSNP |
| X | g.71223784C>T | CA270646 | GJB1 | c.77C>T (p.Ser26Leu)
| ClinVar dbSNP |
| X | g.71223785G>A | CA10445277 | GJB1 | c.78G>A (p.Ser26=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71223785G>C | CA516821075 | GJB1 | c.78G>C (p.Ser26=)
| |
| X | g.71223785G= | CA2436388132 | GJB1 | c.78G= (p.Ser26=)
| |
| X | g.71223785G>T | CA516821078 | GJB1 | c.78G>T (p.Ser26=)
| |
| X | g.71223786G>A | CA413500803 | GJB1 | c.79G>A (p.Val27Ile)
| |
| X | g.71223786G>C | CA413500804 | GJB1 | c.79G>C (p.Val27Leu)
| |
| X | g.71223786G>T | CA413500806 | GJB1 | c.79G>T (p.Val27Phe)
| |
| X | g.71223787T>A | CA413500811 | GJB1 | c.80T>A (p.Val27Asp)
| COSMIC |
| X | g.71223787T>C | CA413500812 | GJB1 | c.80T>C (p.Val27Ala)
| ClinVar dbSNP |
| X | g.71223787T>G | CA413500814 | GJB1 | c.80T>G (p.Val27Gly)
| |
| X | g.71223787T= | CA2436388133 | GJB1 | c.80T= (p.Val27=)
| |
| X | g.71223787_71223788insTCATCT | CA645608760 | GJB1 | c.80_81insTCATCT (p.Val27_Ile28insHisLeu)
| COSMIC |
| X | g.71223796_71223801dup | CA2695234558 | GJB1 | c.89_94dup (p.Phe31_Arg32insIlePhe)
| |
| X | g.71223788C>A | CA516821088 | GJB1 | c.81C>A (p.Val27=)
| |
| X | g.71223788C= | CA2436388134 | GJB1 | c.81C= (p.Val27=)
| |
| X | g.71223788C>G | CA516821086 | GJB1 | c.81C>G (p.Val27=)
| |
| X | g.71223788C>T | CA516821087 | GJB1 | c.81C>T (p.Val27=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71223789A>C | CA413500818 | GJB1 | c.82A>C (p.Ile28Leu)
| |
| X | g.71223789A>G | CA413500822 | GJB1 | c.82A>G (p.Ile28Val)
| |
| X | g.71223789A>T | CA413500820 | GJB1 | c.82A>T (p.Ile28Phe)
| |
| X | g.71223790T>A | CA337772 | GJB1 | c.83T>A (p.Ile28Asn)
| ClinVar dbSNP ExAC gnomAD v2 |
| X | g.71223790T>C | CA10584633 | GJB1 | c.83T>C (p.Ile28Thr)
| ClinVar dbSNP |
| X | g.71223790T>G | CA413500825 | GJB1 | c.83T>G (p.Ile28Ser)
| |
| X | g.71223790T= | CA2436388136 | GJB1 | c.83T= (p.Ile28=)
| |
| X | g.71223790_71223791delinsTC | CA2436388135 | GJB1 | c.83_84delinsTC (p.Ile28=)
| |
| X | g.71223791del | CA915951174 | GJB1 | c.84del (p.Phe29SerfsTer?)
| ClinVar dbSNP |
| X | g.71223791C>A | CA516821093 | GJB1 | c.84C>A (p.Ile28=)
| |
| X | g.71223791C>G | CA413500828 | GJB1 | c.84C>G (p.Ile28Met)
| |
| X | g.71223791C>T | CA516821094 | GJB1 | c.84C>T (p.Ile28=)
| |
| X | g.71223792T>A | CA413500840 | GJB1 | c.85T>A (p.Phe29Ile)
| |
| X | g.71223792T>C | CA413500833 | GJB1 | c.85T>C (p.Phe29Leu)
| ClinVar dbSNP |
| X | g.71223792T>G | CA413500831 | GJB1 | c.85T>G (p.Phe29Val)
| |
| X | g.71223792T= | CA2436388137 | GJB1 | c.85T= (p.Phe29=)
| |
| X | g.71223793T>A | CA413500843 | GJB1 | c.86T>A (p.Phe29Tyr)
| |
| X | g.71223793T>C | CA413500846 | GJB1 | c.86T>C (p.Phe29Ser)
| |
| X | g.71223793T>G | CA413500845 | GJB1 | c.86T>G (p.Phe29Cys)
| |
| X | g.71223794C>A | CA413500848 | GJB1 | c.87C>A (p.Phe29Leu)
| |
| X | g.71223794C>G | CA413500852 | GJB1 | c.87C>G (p.Phe29Leu)
| |
| X | g.71223794C>T | CA516821103 | GJB1 | c.87C>T (p.Phe29=)
| |
| X | g.71223795A>C | CA413500855 | GJB1 | c.88A>C (p.Ile30Leu)
| gnomAD v4 |
| X | g.71223795A>G | CA413500856 | GJB1 | c.88A>G (p.Ile30Val)
| |
| X | g.71223795A>T | CA413500857 | GJB1 | c.88A>T (p.Ile30Phe)
| ClinVar |
| X | g.71223796T>A | CA255242 | GJB1 | c.89T>A (p.Ile30Asn)
| ClinVar dbSNP |
| X | g.71223796T>C | CA413500858 | GJB1 | c.89T>C (p.Ile30Thr)
| ClinVar dbSNP |
| X | g.71223796T>G | CA413500859 | GJB1 | c.89T>G (p.Ile30Ser)
| |
| X | g.71223796T= | CA2436388138 | GJB1 | c.89T= (p.Ile30=)
| |
| X | g.71223797C>A | CA516821109 | GJB1 | c.90C>A (p.Ile30=)
| |
| X | g.71223797C>G | CA413500861 | GJB1 | c.90C>G (p.Ile30Met)
| ClinVar |
| X | g.71223797C>T | CA516821111 | GJB1 | c.90C>T (p.Ile30=)
| |
| X | g.71223798T>A | CA413500866 | GJB1 | c.91T>A (p.Phe31Ile)
| |
| X | g.71223798T>C | CA413500869 | GJB1 | c.91T>C (p.Phe31Leu)
| ClinVar dbSNP |
| X | g.71223798T>G | CA413500871 | GJB1 | c.91T>G (p.Phe31Val)
| |
| X | g.71223798T= | CA2436388139 | GJB1 | c.91T= (p.Phe31=)
| |
| X | g.71223799T>A | CA413500876 | GJB1 | c.92T>A (p.Phe31Tyr)
| |
| X | g.71223799T>C | CA413500875 | GJB1 | c.92T>C (p.Phe31Ser)
| |
| X | g.71223799T>G | CA413500874 | GJB1 | c.92T>G (p.Phe31Cys)
| ClinVar dbSNP |
| X | g.71223800C>A | CA413500877 | GJB1 | c.93C>A (p.Phe31Leu)
| |
| X | g.71223800C= | CA2436388140 | GJB1 | c.93C= (p.Phe31=)
| |
| X | g.71223800C>G | CA413500878 | GJB1 | c.93C>G (p.Phe31Leu)
| |
| X | g.71223800C>T | CA516821118 | GJB1 | c.93C>T (p.Phe31=)
| ClinVar dbSNP |
| X | g.71223801A= | CA2436388141 | GJB1 | c.94A= (p.Arg32=)
| |
| X | g.71223801A>C | CA516821119 | GJB1 | c.94A>C (p.Arg32=)
| |
| X | g.71223801A>G | CA413500880 | GJB1 | c.94A>G (p.Arg32Gly)
| ClinVar dbSNP |
| X | g.71223801A>T | CA413500882 | GJB1 | c.94A>T (p.Arg32Ter)
| |
| X | g.71223802G>A | CA413500892 | GJB1 | c.95G>A (p.Arg32Lys)
| ClinVar |
| X | g.71223802G>C | CA413500894 | GJB1 | c.95G>C (p.Arg32Thr)
| |
| X | g.71223802G>T | CA413500896 | GJB1 | c.95G>T (p.Arg32Ile)
| |
| X | g.71223803A>C | CA413500899 | GJB1 | c.96A>C (p.Arg32Ser)
| |
| X | g.71223803A>G | CA516821123 | GJB1 | c.96A>G (p.Arg32=)
| gnomAD v4 |
| X | g.71223803A>T | CA413500901 | GJB1 | c.96A>T (p.Arg32Ser)
| |
| X | g.71223804A>C | CA413500904 | GJB1 | c.97A>C (p.Ile33Leu)
| |
| X | g.71223804A>G | CA413500907 | GJB1 | c.97A>G (p.Ile33Val)
| |
| X | g.71223804A>T | CA413500913 | GJB1 | c.97A>T (p.Ile33Phe)
| |
| X | g.71223805T>A | CA413500920 | GJB1 | c.98T>A (p.Ile33Asn)
| ClinVar dbSNP |
| X | g.71223805T>C | CA413500918 | GJB1 | c.98T>C (p.Ile33Thr)
| |
| X | g.71223805T>G | CA413500916 | GJB1 | c.98T>G (p.Ile33Ser)
| |
| X | g.71223805T= | CA2436388142 | GJB1 | c.98T= (p.Ile33=)
| |
| X | g.71223806C>A | CA516821125 | GJB1 | c.99C>A (p.Ile33=)
| |
| X | g.71223806C= | CA2436388143 | GJB1 | c.99C= (p.Ile33=)
| |
| X | g.71223806C>G | CA413500922 | GJB1 | c.99C>G (p.Ile33Met)
| |
| X | g.71223806C>T | CA516821126 | GJB1 | c.99C>T (p.Ile33=)
| ClinVar dbSNP |
| X | g.71223806_71223810dup | CA915951175 | GJB1 | c.99_103dup (p.Val35AlafsTer?)
| ClinVar dbSNP |
| X | g.71223807A= | CA2436388144 | GJB1 | c.100A= (p.Met34=)
| |
| X | g.71223807A>C | CA413500924 | GJB1 | c.100A>C (p.Met34Leu)
| |
| X | g.71223807A>G | CA413500925 | GJB1 | c.100A>G (p.Met34Val)
| ClinVar dbSNP |
| X | g.71223807A>T | CA413500926 | GJB1 | c.100A>T (p.Met34Leu)
| |
| X | g.71223808T>A | CA413500927 | GJB1 | c.101T>A (p.Met34Lys)
| ClinVar dbSNP |
| X | g.71223808T>C | CA16616534 | GJB1 | c.101T>C (p.Met34Thr)
| ClinVar dbSNP |
| X | g.71223808T>G | CA413500929 | GJB1 | c.101T>G (p.Met34Arg)
| |
| X | g.71223808T= | CA2436388145 | GJB1 | c.101T= (p.Met34=)
| |
| X | g.71223809G>A | CA16616704 | GJB1 | c.102G>A (p.Met34Ile)
| ClinVar dbSNP |
| X | g.71223809G>C | CA413500932 | GJB1 | c.102G>C (p.Met34Ile)
| |
| X | g.71223809G= | CA2436388146 | GJB1 | c.102G= (p.Met34=)
| |
| X | g.71223809G>T | CA413500934 | GJB1 | c.102G>T (p.Met34Ile)
| |
| X | g.71223810G>A | CA413500937 | GJB1 | c.103G>A (p.Val35Met)
| ClinVar dbSNP |
| X | g.71223810G>C | CA413500938 | GJB1 | c.103G>C (p.Val35Leu)
| |
| X | g.71223810G= | CA2436388147 | GJB1 | c.103G= (p.Val35=)
| |
| X | g.71223810G>T | CA413500939 | GJB1 | c.103G>T (p.Val35Leu)
| |
| X | g.71223811T>A | CA413500943 | GJB1 | c.104T>A (p.Val35Glu)
| |
| X | g.71223811T>C | CA413500940 | GJB1 | c.104T>C (p.Val35Ala)
| |
| X | g.71223811T>G | CA413500941 | GJB1 | c.104T>G (p.Val35Gly)
| |
| X | g.71223812G>A | CA516821134 | GJB1 | c.105G>A (p.Val35=)
| gnomAD v4 |
| X | g.71223812G>C | CA516821135 | GJB1 | c.105G>C (p.Val35=)
| |
| X | g.71223812G>T | CA516821137 | GJB1 | c.105G>T (p.Val35=)
| |
| X | g.71223813C>A | CA413500945 | GJB1 | c.106C>A (p.Leu36Met)
| |
| X | g.71223813C= | CA2436388148 | GJB1 | c.106C= (p.Leu36=)
| |
| X | g.71223813C>G | CA413500946 | GJB1 | c.106C>G (p.Leu36Val)
| ClinVar dbSNP |
| X | g.71223813C>T | CA516821141 | GJB1 | c.106C>T (p.Leu36=)
| COSMIC |
| X | g.71223814T>A | CA413500948 | GJB1 | c.107T>A (p.Leu36Gln)
| |
| X | g.71223814T>C | CA413500951 | GJB1 | c.107T>C (p.Leu36Pro)
| ClinVar dbSNP |
| X | g.71223814T>G | CA413500952 | GJB1 | c.107T>G (p.Leu36Arg)
| |
| X | g.71223814T= | CA2436388149 | GJB1 | c.107T= (p.Leu36=)
| |
| X | g.71223815G>A | CA516821144 | GJB1 | c.108G>A (p.Leu36=)
| |
| X | g.71223815G>C | CA10445278 | GJB1 | c.108G>C (p.Leu36=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71223815G= | CA2436388150 | GJB1 | c.108G= (p.Leu36=)
| |
| X | g.71223815G>T | CA516821145 | GJB1 | c.108G>T (p.Leu36=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.71223816G>A | CA413500955 | GJB1 | c.109G>A (p.Val37Met)
| ClinVar dbSNP |
| X | g.71223816G>C | CA413500957 | GJB1 | c.109G>C (p.Val37Leu)
| ClinVar dbSNP gnomAD v4 |
| X | g.71223816G= | CA2436388151 | GJB1 | c.109G= (p.Val37=)
| |
| X | g.71223816G>T | CA16043599 | GJB1 | c.109G>T (p.Val37Leu)
| ClinVar dbSNP |
| X | g.71223816_71223817delinsGT | CA2436388152 | GJB1 | c.109_110delinsGT (p.Val37=)
| |
| X | g.71223817del | CA915951176 | GJB1 | c.110del (p.Val37GlyfsTer?)
| ClinVar dbSNP |
| X | g.71223817T>A | CA413500959 | GJB1 | c.110T>A (p.Val37Glu)
| ClinVar |
| X | g.71223817T>C | CA413500961 | GJB1 | c.110T>C (p.Val37Ala)
| |
| X | g.71223817T>G | CA413500963 | GJB1 | c.110T>G (p.Val37Gly)
| |
| X | g.71223817T= | CA2436388153 | GJB1 | c.110T= (p.Val37=)
| |
| X | g.71223818G>A | CA516821151 | GJB1 | c.111G>A (p.Val37=)
| dbSNP |
| X | g.71223818G>C | CA516821152 | GJB1 | c.111G>C (p.Val37=)
| |
| X | g.71223818G= | CA2436388154 | GJB1 | c.111G= (p.Val37=)
| |
| X | g.71223818G>T | CA516821154 | GJB1 | c.111G>T (p.Val37=)
| |
| X | g.71223818_71223819dup | CA1139667644 | GJB1 | c.111_112dup (p.Val38GlyfsTer?)
| ClinVar dbSNP |
| X | g.71223819G>A | CA10584634 | GJB1 | c.112G>A (p.Val38Met)
| ClinVar dbSNP |
| X | g.71223819G>C | CA413500966 | GJB1 | c.112G>C (p.Val38Leu)
| |
| X | g.71223819G= | CA2436388155 | GJB1 | c.112G= (p.Val38=)
| |
| X | g.71223819G>T | CA413500964 | GJB1 | c.112G>T (p.Val38Leu)
| |
| X | g.71223820T>A | CA413500968 | GJB1 | c.113T>A (p.Val38Glu)
| |
| X | g.71223820T>C | CA413500975 | GJB1 | c.113T>C (p.Val38Ala)
| ClinVar dbSNP |
| X | g.71223820T>G | CA338636 | GJB1 | c.113T>G (p.Val38Gly)
| ClinVar dbSNP |
| X | g.71223820T= | CA2436388156 | GJB1 | c.113T= (p.Val38=)
| |
| X | g.71223820_71223821delinsTG | CA2436388157 | GJB1 | c.113_114delinsTG (p.Val38=)
| |
| X | g.71223821G>A | CA516821157 | GJB1 | c.114G>A (p.Val38=)
| |
| X | g.71223821G>C | CA516821158 | GJB1 | c.114G>C (p.Val38=)
| |
| X | g.71223821G= | CA2436388158 | GJB1 | c.114G= (p.Val38=)
| |
| X | g.71223821G>T | CA516821160 | GJB1 | c.114G>T (p.Val38=)
| |
| X | g.71223822del | CA915951177 | GJB1 | c.115del (p.Ala39LeufsTer?)
| ClinVar dbSNP |
| X | g.71223821_71223822insC | CA915951178 | GJB1 | c.114_115insC (p.Ala39ArgfsTer8)
| ClinVar dbSNP |
| X | g.71223822G>A | CA413500977 | GJB1 | c.115G>A (p.Ala39Thr)
| ClinVar gnomAD v4 |
| X | g.71223822G>C | CA413500982 | GJB1 | c.115G>C (p.Ala39Pro)
| ClinVar dbSNP |
| X | g.71223822G= | CA2436388159 | GJB1 | c.115G= (p.Ala39=)
| |
| X | g.71223822G>T | CA413500980 | GJB1 | c.115G>T (p.Ala39Ser)
| |
| X | g.71223822_71223823delinsGC | CA2436388160 | GJB1 | c.115_116delinsGC (p.Ala39=)
| |
| X | g.71223823del | CA915951179 | GJB1 | c.116del (p.Ala39ValfsTer?)
| ClinVar dbSNP |
| X | g.71223823C>A | CA413500984 | GJB1 | c.116C>A (p.Ala39Asp)
| |
| X | g.71223823C= | CA2436388161 | GJB1 | c.116C= (p.Ala39=)
| |
| X | g.71223823C>G | CA413500987 | GJB1 | c.116C>G (p.Ala39Gly)
| ClinVar dbSNP |
| X | g.71223823C>T | CA334139 | GJB1 | c.116C>T (p.Ala39Val)
| ClinVar dbSNP gnomAD v4 |
| X | g.71223824T>A | CA516821166 | GJB1 | c.117T>A (p.Ala39=)
| |
| X | g.71223824T>C | CA516821167 | GJB1 | c.117T>C (p.Ala39=)
| |
| X | g.71223824T>G | CA516821168 | GJB1 | c.117T>G (p.Ala39=)
| |
| X | g.71223825G>A | CA413500989 | GJB1 | c.118G>A (p.Ala40Thr)
| ClinVar dbSNP |
| X | g.71223825G>C | CA413500991 | GJB1 | c.118G>C (p.Ala40Pro)
| |
| X | g.71223825G= | CA2436388162 | GJB1 | c.118G= (p.Ala40=)
| |
| X | g.71223825G>T | CA413500990 | GJB1 | c.118G>T (p.Ala40Ser)
| ClinVar dbSNP |
| X | g.71223826C>A | CA413500992 | GJB1 | c.119C>A (p.Ala40Glu)
| |
| X | g.71223826C= | CA2436388163 | GJB1 | c.119C= (p.Ala40=)
| |
| X | g.71223826C>G | CA413500996 | GJB1 | c.119C>G (p.Ala40Gly)
| |
| X | g.71223826C>T | CA413500994 | GJB1 | c.119C>T (p.Ala40Val)
| ClinVar dbSNP |
| X | g.71223826_71223828delinsCAG | CA2436388164 | GJB1 | c.119_121delinsCAG (p.Ala40=)
| |
| X | g.71223827A= | CA2436388165 | GJB1 | c.120A= (p.Ala40=)
| |
| X | g.71223827A>C | CA516821174 | GJB1 | c.120A>C (p.Ala40=)
| |
| X | g.71223827A>G | CA516821176 | GJB1 | c.120A>G (p.Ala40=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71223827A>T | CA516821175 | GJB1 | c.120A>T (p.Ala40=)
| |
| X | g.71223831_71223832del | CA915951180 | GJB1 | c.124_125del (p.Ser42CysfsTer4)
| ClinVar dbSNP |
| X | g.71223827_71223828insCCACCAGCT | CA891844218 | GJB1 | c.120_121insCCACCAGCT (p.Ala40_Glu41insProProAla)
| ClinVar dbSNP |
| X | g.71223828G>A | CA413500999 | GJB1 | c.121G>A (p.Glu41Lys)
| ClinVar dbSNP |
| X | g.71223828G>C | CA413501001 | GJB1 | c.121G>C (p.Glu41Gln)
| |
| X | g.71223828G= | CA2436388166 | GJB1 | c.121G= (p.Glu41=)
| |
| X | g.71223828G>T | CA413501003 | GJB1 | c.121G>T (p.Glu41Ter)
| COSMIC |
| X | g.71223829A>C | CA413501005 | GJB1 | c.122A>C (p.Glu41Ala)
| |
| X | g.71223829A>G | CA413501007 | GJB1 | c.122A>G (p.Glu41Gly)
| |
| X | g.71223829A>T | CA413501008 | GJB1 | c.122A>T (p.Glu41Val)
| |
| X | g.71223830G>A | CA516821181 | GJB1 | c.123G>A (p.Glu41=)
| |
| X | g.71223830G>C | CA341591 | GJB1 | c.123G>C (p.Glu41Asp)
| ClinVar dbSNP |
| X | g.71223830G= | CA2436388167 | GJB1 | c.123G= (p.Glu41=)
| |
| X | g.71223830G>T | CA413501011 | GJB1 | c.123G>T (p.Glu41Asp)
| COSMIC |
| X | g.71223831del | CA2695234559 | GJB1 | c.124del (p.Ser42ValfsTer?)
| |
| X | g.71223831A= | CA2436388168 | GJB1 | c.124A= (p.Ser42=)
| |
| X | g.71223831A>C | CA413501013 | GJB1 | c.124A>C (p.Ser42Arg)
| |
| X | g.71223831A>G | CA413501014 | GJB1 | c.124A>G (p.Ser42Gly)
| ClinVar |
| X | g.71223831A>T | CA413501016 | GJB1 | c.124A>T (p.Ser42Cys)
| ClinVar dbSNP |
| X | g.71223832G>A | CA413501021 | GJB1 | c.125G>A (p.Ser42Asn)
| |
| X | g.71223832G>C | CA413501018 | GJB1 | c.125G>C (p.Ser42Thr)
| |
| X | g.71223832G>T | CA413501019 | GJB1 | c.125G>T (p.Ser42Ile)
| |
| X | g.71223833T>A | CA413501022 | GJB1 | c.126T>A (p.Ser42Arg)
| |
| X | g.71223833T>C | CA516821183 | GJB1 | c.126T>C (p.Ser42=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71223833T>G | CA413501024 | GJB1 | c.126T>G (p.Ser42Arg)
| |
| X | g.71223833T= | CA2436388169 | GJB1 | c.126T= (p.Ser42=)
| |
| X | g.71223834G>A | CA413501026 | GJB1 | c.127G>A (p.Val43Met)
| ClinVar dbSNP |
| X | g.71223834G>C | CA413501027 | GJB1 | c.127G>C (p.Val43Leu)
| ClinVar dbSNP |
| X | g.71223834G= | CA2436388170 | GJB1 | c.127G= (p.Val43=)
| |
| X | g.71223834G>T | CA413501028 | GJB1 | c.127G>T (p.Val43Leu)
| |
| X | g.71223835T>A | CA413501030 | GJB1 | c.128T>A (p.Val43Glu)
| ClinVar dbSNP |
| X | g.71223835T>C | CA413501032 | GJB1 | c.128T>C (p.Val43Ala)
| |
| X | g.71223835T>G | CA413501033 | GJB1 | c.128T>G (p.Val43Gly)
| |
| X | g.71223835T= | CA2436388171 | GJB1 | c.128T= (p.Val43=)
| |
| X | g.71223836G>A | CA516821187 | GJB1 | c.129G>A (p.Val43=)
| ClinVar dbSNP |
| X | g.71223836G>C | CA516821188 | GJB1 | c.129G>C (p.Val43=)
| |
| X | g.71223836G>T | CA516821190 | GJB1 | c.129G>T (p.Val43=)
| |
| X | g.71223837T>A | CA413501040 | GJB1 | c.130T>A (p.Trp44Arg)
| |
| X | g.71223837T>C | CA413501042 | GJB1 | c.130T>C (p.Trp44Arg)
| |
| X | g.71223837T>G | CA413501044 | GJB1 | c.130T>G (p.Trp44Gly)
| |
| X | g.71223838G>A | CA10581119 | GJB1 | c.131G>A (p.Trp44Ter)
| ClinVar dbSNP |
| X | g.71223838G>C | CA413501049 | GJB1 | c.131G>C (p.Trp44Ser)
| |
| X | g.71223838G= | CA2436388172 | GJB1 | c.131G= (p.Trp44=)
| |
| X | g.71223838G>T | CA413501047 | GJB1 | c.131G>T (p.Trp44Leu)
| ClinVar dbSNP |
| X | g.71223841dup | CA2697553165 | GJB1 | c.134dup (p.Asp46Ter)
| ClinVar |
| X | g.71223841del | CA2695234560 | GJB1 | c.134del (p.Gly45ValfsTer?)
| |
| X | g.71223839G>A | CA413501057 | GJB1 | c.132G>A (p.Trp44Ter)
| ClinVar dbSNP COSMIC |
| X | g.71223839G>C | CA10584635 | GJB1 | c.132G>C (p.Trp44Cys)
| ClinVar dbSNP |
| X | g.71223839G= | CA2436388173 | GJB1 | c.132G= (p.Trp44=)
| |
| X | g.71223839G>T | CA413501055 | GJB1 | c.132G>T (p.Trp44Cys)
| COSMIC |
| X | g.71223840G>A | CA413501060 | GJB1 | c.133G>A (p.Gly45Ser)
| gnomAD v4 |
| X | g.71223840G>C | CA413501062 | GJB1 | c.133G>C (p.Gly45Arg)
| ClinVar |
| X | g.71223840G>T | CA413501064 | GJB1 | c.133G>T (p.Gly45Cys)
| |
| X | g.71223841G>A | CA413501066 | GJB1 | c.134G>A (p.Gly45Asp)
| gnomAD v4 |
| X | g.71223841G>C | CA413501067 | GJB1 | c.134G>C (p.Gly45Ala)
| |
| X | g.71223841G>T | CA413501069 | GJB1 | c.134G>T (p.Gly45Val)
| |
| X | g.71223842T>A | CA516821195 | GJB1 | c.135T>A (p.Gly45=)
| |
| X | g.71223842T>C | CA516821197 | GJB1 | c.135T>C (p.Gly45=)
| dbSNP gnomAD v3 |
| X | g.71223842T>G | CA516821199 | GJB1 | c.135T>G (p.Gly45=)
| ClinVar dbSNP |
| X | g.71223842T= | CA2436388174 | GJB1 | c.135T= (p.Gly45=)
| |
| X | g.71223843G>A | CA413501073 | GJB1 | c.136G>A (p.Asp46Asn)
| ClinVar |
| X | g.71223843G>C | CA413501075 | GJB1 | c.136G>C (p.Asp46His)
| |
| X | g.71223843G>T | CA413501077 | GJB1 | c.136G>T (p.Asp46Tyr)
| |
| X | g.71223844A= | CA2436388175 | GJB1 | c.137A= (p.Asp46=)
| |
| X | g.71223844A>C | CA413501084 | GJB1 | c.137A>C (p.Asp46Ala)
| |
| X | g.71223844A>G | CA413501083 | GJB1 | c.137A>G (p.Asp46Gly)
| ClinVar dbSNP |
| X | g.71223844A>T | CA413501081 | GJB1 | c.137A>T (p.Asp46Val)
| ClinVar dbSNP |
| X | g.71223845T>A | CA413501085 | GJB1 | c.138T>A (p.Asp46Glu)
| |
| X | g.71223845T>C | CA516821202 | GJB1 | c.138T>C (p.Asp46=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.71223845T>G | CA413501086 | GJB1 | c.138T>G (p.Asp46Glu)
| ClinVar dbSNP gnomAD v4 |
| X | g.71223845T= | CA2436388176 | GJB1 | c.138T= (p.Asp46=)
| |
| X | g.71223846G>A | CA413501088 | GJB1 | c.139G>A (p.Glu47Lys)
| ClinVar dbSNP |
| X | g.71223846G>C | CA413501092 | GJB1 | c.139G>C (p.Glu47Gln)
| |
| X | g.71223846G= | CA2436388177 | GJB1 | c.139G= (p.Glu47=)
| |
| X | g.71223846G>T | CA413501093 | GJB1 | c.139G>T (p.Glu47Ter)
| |
| X | g.71223847A= | CA2436388178 | GJB1 | c.140A= (p.Glu47=)
| |
| X | g.71223847A>C | CA413501095 | GJB1 | c.140A>C (p.Glu47Ala)
| |
| X | g.71223847A>G | CA413501096 | GJB1 | c.140A>G (p.Glu47Gly)
| ClinVar dbSNP |
| X | g.71223847A>T | CA413501098 | GJB1 | c.140A>T (p.Glu47Val)
| ClinVar dbSNP |
| X | g.71223848_71223850dup | CA915951181 | GJB1 | c.141_143dup (p.Lys48_Ser49insLys)
| ClinVar dbSNP |
| X | g.71223848G>A | CA516821206 | GJB1 | c.141G>A (p.Glu47=)
| gnomAD v4 |
| X | g.71223848G>C | CA413501100 | GJB1 | c.141G>C (p.Glu47Asp)
| |
| X | g.71223848G>T | CA413501103 | GJB1 | c.141G>T (p.Glu47Asp)
| |
| X | g.71223849A>C | CA413501105 | GJB1 | c.142A>C (p.Lys48Gln)
| |
| X | g.71223849A>G | CA413501106 | GJB1 | c.142A>G (p.Lys48Glu)
| |
| X | g.71223849A>T | CA413501109 | GJB1 | c.142A>T (p.Lys48Ter)
| |
| X | g.71223850A>C | CA413501115 | GJB1 | c.143A>C (p.Lys48Thr)
| |
| X | g.71223850A>G | CA413501117 | GJB1 | c.143A>G (p.Lys48Arg)
| |
| X | g.71223850A>T | CA413501112 | GJB1 | c.143A>T (p.Lys48Ile)
| |
| X | g.71223851A= | CA2436388179 | GJB1 | c.144A= (p.Lys48=)
| |
| X | g.71223851A>C | CA413501119 | GJB1 | c.144A>C (p.Lys48Asn)
| |
| X | g.71223851A>G | CA516821209 | GJB1 | c.144A>G (p.Lys48=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.71223851A>T | CA413501122 | GJB1 | c.144A>T (p.Lys48Asn)
| |
| X | g.71223852T>A | CA413501125 | GJB1 | c.145T>A (p.Ser49Thr)
| |
| X | g.71223852T>C | CA341595 | GJB1 | c.145T>C (p.Ser49Pro)
| ClinVar dbSNP |
| X | g.71223852T>G | CA413501126 | GJB1 | c.145T>G (p.Ser49Ala)
| |
| X | g.71223852T= | CA2436388180 | GJB1 | c.145T= (p.Ser49=)
| |
| X | g.71223853C>A | CA413501127 | GJB1 | c.146C>A (p.Ser49Tyr)
| ClinVar dbSNP |
| X | g.71223853C= | CA2436388181 | GJB1 | c.146C= (p.Ser49=)
| |
| X | g.71223853C>G | CA413501128 | GJB1 | c.146C>G (p.Ser49Cys)
| |
| X | g.71223853C>T | CA413501130 | GJB1 | c.146C>T (p.Ser49Phe)
| |
| X | g.71223854T>A | CA516821211 | GJB1 | c.147T>A (p.Ser49=)
| |
| X | g.71223854T>C | CA516821212 | GJB1 | c.147T>C (p.Ser49=)
| ClinVar dbSNP COSMIC |
| X | g.71223854T>G | CA516821213 | GJB1 | c.147T>G (p.Ser49=)
| |
| X | g.71223854T= | CA2436388182 | GJB1 | c.147T= (p.Ser49=)
| |
| X | g.71223855T>A | CA413501134 | GJB1 | c.148T>A (p.Ser50Thr)
| |
| X | g.71223855T>C | CA413501135 | GJB1 | c.148T>C (p.Ser50Pro)
| ClinVar dbSNP |
| X | g.71223855T>G | CA330997669 | GJB1 | c.148T>G (p.Ser50Ala)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.71223855T= | CA2436388183 | GJB1 | c.148T= (p.Ser50=)
| |
| X | g.71223856C>A | CA413501140 | GJB1 | c.149C>A (p.Ser50Tyr)
| |
| X | g.71223856C= | CA2436388184 | GJB1 | c.149C= (p.Ser50=)
| |
| X | g.71223856C>G | CA413501143 | GJB1 | c.149C>G (p.Ser50Cys)
| ClinVar dbSNP |
| X | g.71223856C>T | CA413501149 | GJB1 | c.149C>T (p.Ser50Phe)
| |
| X | g.71223857C>A | CA516821217 | GJB1 | c.150C>A (p.Ser50=)
| |
| X | g.71223857C>G | CA516821216 | GJB1 | c.150C>G (p.Ser50=)
| |
| X | g.71223857C>T | CA516821215 | GJB1 | c.150C>T (p.Ser50=)
| |
| X | g.71223858_71223860del | CA2830782863 | GJB1 | c.151_153del (p.Phe51del)
| |
| X | g.71223858T>A | CA413501158 | GJB1 | c.151T>A (p.Phe51Ile)
| |
| X | g.71223858T>C | CA10577662 | GJB1 | c.151T>C (p.Phe51Leu)
| ClinVar dbSNP |
| X | g.71223858T>G | CA413501152 | GJB1 | c.151T>G (p.Phe51Val)
| |
| X | g.71223858T= | CA2436388185 | GJB1 | c.151T= (p.Phe51=)
| |
| X | g.71223859T>A | CA413501161 | GJB1 | c.152T>A (p.Phe51Tyr)
| |
| X | g.71223859T>C | CA413501163 | GJB1 | c.152T>C (p.Phe51Ser)
| ClinVar dbSNP |
| X | g.71223859T>G | CA413501164 | GJB1 | c.152T>G (p.Phe51Cys)
| |
| X | g.71223859T= | CA2436388186 | GJB1 | c.152T= (p.Phe51=)
| |
| X | g.71223860C>A | CA413501166 | GJB1 | c.153C>A (p.Phe51Leu)
| ClinVar dbSNP |
| X | g.71223860C>G | CA413501167 | GJB1 | c.153C>G (p.Phe51Leu)
| |
| X | g.71223860C>T | CA516821219 | GJB1 | c.153C>T (p.Phe51=)
| |
| X | g.71223861A= | CA2436388187 | GJB1 | c.154A= (p.Ile52=)
| |
| X | g.71223861A>C | CA413501168 | GJB1 | c.154A>C (p.Ile52Leu)
| |
| X | g.71223861A>G | CA413501169 | GJB1 | c.154A>G (p.Ile52Val)
| |
| X | g.71223861A>T | CA330997673 | GJB1 | c.154A>T (p.Ile52Phe)
| dbSNP |
| X | g.71223861_71223862delinsAT | CA2436388188 | GJB1 | c.154_155delinsAT (p.Ile52=)
| |
| X | g.71223862del | CA915951182 | GJB1 | c.155del (p.Ile52ThrfsTer?)
| ClinVar dbSNP |
| X | g.71223862T>A | CA413501171 | GJB1 | c.155T>A (p.Ile52Asn)
| |
| X | g.71223862T>C | CA413501174 | GJB1 | c.155T>C (p.Ile52Thr)
| |
| X | g.71223862T>G | CA413501178 | GJB1 | c.155T>G (p.Ile52Ser)
| |
| X | g.71223862T= | CA2436388189 | GJB1 | c.155T= (p.Ile52=)
| |
| X | g.71223863C>A | CA516821221 | GJB1 | c.156C>A (p.Ile52=)
| |
| X | g.71223863C= | CA2436388190 | GJB1 | c.156C= (p.Ile52=)
| |
| X | g.71223863C>G | CA413501180 | GJB1 | c.156C>G (p.Ile52Met)
| |
| X | g.71223863C>T | CA516821222 | GJB1 | c.156C>T (p.Ile52=)
| dbSNP gnomAD v4 |
| X | g.71223871_71223891dup | CA658659008 | GJB1 | c.164_184dup (p.Asn61_Ser62insThrLeuGlnProGlyCysAsn)
| ClinVar dbSNP |
| X | g.71223864del | CA2580101352 | GJB1 | c.157del (p.Cys53AlafsTer?)
| ClinVar |
| X | g.71223864T>A | CA413501193 | GJB1 | c.157T>A (p.Cys53Ser)
| ClinVar dbSNP |
| X | g.71223864T>C | CA413501184 | GJB1 | c.157T>C (p.Cys53Arg)
| |
| X | g.71223864T>G | CA413501189 | GJB1 | c.157T>G (p.Cys53Gly)
| |
| X | g.71223864T= | CA2436388191 | GJB1 | c.157T= (p.Cys53=)
| |
| X | g.71223865G>A | CA413501194 | GJB1 | c.158G>A (p.Cys53Tyr)
| ClinVar dbSNP |
| X | g.71223865G>C | CA413501195 | GJB1 | c.158G>C (p.Cys53Ser)
| ClinVar dbSNP |
| X | g.71223865G= | CA2436388192 | GJB1 | c.158G= (p.Cys53=)
| |
| X | g.71223865G>T | CA413501196 | GJB1 | c.158G>T (p.Cys53Phe)
| ClinVar |
| X | g.71223866C>A | CA413501197 | GJB1 | c.159C>A (p.Cys53Ter)
| |
| X | g.71223866C>G | CA413501198 | GJB1 | c.159C>G (p.Cys53Trp)
| |
| X | g.71223866C>T | CA516821224 | GJB1 | c.159C>T (p.Cys53=)
| |
| X | g.71223867A= | CA2436388193 | GJB1 | c.160A= (p.Asn54=)
| |
| X | g.71223867A>C | CA413501199 | GJB1 | c.160A>C (p.Asn54His)
| ClinVar dbSNP |
| X | g.71223867A>G | CA413501201 | GJB1 | c.160A>G (p.Asn54Asp)
| |
| X | g.71223867A>T | CA413501202 | GJB1 | c.160A>T (p.Asn54Tyr)
| |
| X | g.71223868A>C | CA413501206 | GJB1 | c.161A>C (p.Asn54Thr)
| |
| X | g.71223868A>G | CA413501207 | GJB1 | c.161A>G (p.Asn54Ser)
| |
| X | g.71223868A>T | CA413501208 | GJB1 | c.161A>T (p.Asn54Ile)
| |
| X | g.71223869C>A | CA413501209 | GJB1 | c.162C>A (p.Asn54Lys)
| |
| X | g.71223869C>G | CA413501211 | GJB1 | c.162C>G (p.Asn54Lys)
| |
| X | g.71223869C>T | CA516821227 | GJB1 | c.162C>T (p.Asn54=)
| ClinVar dbSNP |
| X | g.71223870A= | CA2436388194 | GJB1 | c.163A= (p.Thr55=)
| |
| X | g.71223870A>C | CA413501213 | GJB1 | c.163A>C (p.Thr55Pro)
| ClinVar dbSNP |
| X | g.71223870A>G | CA339416 | GJB1 | c.163A>G (p.Thr55Ala)
| ClinVar dbSNP |
| X | g.71223870A>T | CA413501215 | GJB1 | c.163A>T (p.Thr55Ser)
| |
| X | g.71223871C>A | CA413501216 | GJB1 | c.164C>A (p.Thr55Lys)
| |
| X | g.71223871C= | CA2436388195 | GJB1 | c.164C= (p.Thr55=)
| |
| X | g.71223871C>G | CA413501219 | GJB1 | c.164C>G (p.Thr55Arg)
| ClinVar dbSNP |
| X | g.71223871C>T | CA340973 | GJB1 | c.164C>T (p.Thr55Ile)
| ClinVar dbSNP |
| X | g.71223872A= | CA2436388196 | GJB1 | c.165A= (p.Thr55=)
| |
| X | g.71223872A>C | CA516821229 | GJB1 | c.165A>C (p.Thr55=)
| |
| X | g.71223872A>G | CA516821230 | GJB1 | c.165A>G (p.Thr55=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71223872A>T | CA516821231 | GJB1 | c.165A>T (p.Thr55=)
| |
| X | g.71223872_71223873insGAT | CA2573159494 | GJB1 | c.165_166insGAT (p.Thr55_Leu56insAsp)
| ClinVar dbSNP |
| X | g.71223873C>A | CA413501227 | GJB1 | c.166C>A (p.Leu56Ile)
| |
| X | g.71223873C= | CA2436388197 | GJB1 | c.166C= (p.Leu56=)
| |
| X | g.71223873C>G | CA413501230 | GJB1 | c.166C>G (p.Leu56Val)
| ClinVar dbSNP |
| X | g.71223873C>T | CA413501232 | GJB1 | c.166C>T (p.Leu56Phe)
| ClinVar dbSNP |
| X | g.71223874T>A | CA413501233 | GJB1 | c.167T>A (p.Leu56His)
| |
| X | g.71223874T>C | CA413501237 | GJB1 | c.167T>C (p.Leu56Pro)
| |
| X | g.71223874T>G | CA413501238 | GJB1 | c.167T>G (p.Leu56Arg)
| |
| X | g.71223875C>A | CA516821234 | GJB1 | c.168C>A (p.Leu56=)
| |
| X | g.71223875C>G | CA516821235 | GJB1 | c.168C>G (p.Leu56=)
| |
| X | g.71223875C>T | CA516821236 | GJB1 | c.168C>T (p.Leu56=)
| |
| X | g.71223876C>A | CA413501242 | GJB1 | c.169C>A (p.Gln57Lys)
| |
| X | g.71223876C>G | CA413501244 | GJB1 | c.169C>G (p.Gln57Glu)
| |
| X | g.71223876C>T | CA413501240 | GJB1 | c.169C>T (p.Gln57Ter)
| |
| X | g.71223877A>C | CA413501248 | GJB1 | c.170A>C (p.Gln57Pro)
| |
| X | g.71223877A>G | CA413501246 | GJB1 | c.170A>G (p.Gln57Arg)
| |
| X | g.71223877A>T | CA413501251 | GJB1 | c.170A>T (p.Gln57Leu)
| dbSNP |
| X | g.71223878G>A | CA516821242 | GJB1 | c.171G>A (p.Gln57=)
| ClinVar dbSNP |
| X | g.71223878G>C | CA413501254 | GJB1 | c.171G>C (p.Gln57His)
| ClinVar dbSNP |
| X | g.71223878G= | CA2436388198 | GJB1 | c.171G= (p.Gln57=)
| |
| X | g.71223878G>T | CA413501256 | GJB1 | c.171G>T (p.Gln57His)
| |
| X | g.71223879C>A | CA413501259 | GJB1 | c.172C>A (p.Pro58Thr)
| |
| X | g.71223879C= | CA2436388199 | GJB1 | c.172C= (p.Pro58=)
| |
| X | g.71223879C>G | CA413501262 | GJB1 | c.172C>G (p.Pro58Ala)
| |
| X | g.71223879C>T | CA267507 | GJB1 | c.172C>T (p.Pro58Ser)
| ClinVar dbSNP |
| X | g.71223880C>A | CA413501272 | GJB1 | c.173C>A (p.Pro58His)
| |
| X | g.71223880C= | CA2436388200 | GJB1 | c.173C= (p.Pro58=)
| |
| X | g.71223880C>G | CA413501270 | GJB1 | c.173C>G (p.Pro58Arg)
| ClinVar dbSNP |
| X | g.71223880C>T | CA413501266 | GJB1 | c.173C>T (p.Pro58Leu)
| gnomAD v4 |
| X | g.71223881T>A | CA516821247 | GJB1 | c.174T>A (p.Pro58=)
| |
| X | g.71223881T>C | CA516821246 | GJB1 | c.174T>C (p.Pro58=)
| |
| X | g.71223881T>G | CA516821245 | GJB1 | c.174T>G (p.Pro58=)
| |
| X | g.71223882G>A | CA413501276 | GJB1 | c.175G>A (p.Gly59Ser)
| |
| X | g.71223882G>C | CA413501278 | GJB1 | c.175G>C (p.Gly59Arg)
| ClinVar dbSNP |
| X | g.71223882G= | CA2436388201 | GJB1 | c.175G= (p.Gly59=)
| |
| X | g.71223882G>T | CA413501280 | GJB1 | c.175G>T (p.Gly59Cys)
| ClinVar dbSNP |
| X | g.71223883G>A | CA413501284 | GJB1 | c.176G>A (p.Gly59Asp)
| ClinVar |
| X | g.71223883G>C | CA413501287 | GJB1 | c.176G>C (p.Gly59Ala)
| |
| X | g.71223883G>T | CA413501289 | GJB1 | c.176G>T (p.Gly59Val)
| |
