13 | g.20188978_20189023dup | CA913191089 | GJB2 | c.560_605dup (p.Cys202Ter)
| ClinVar dbSNP gnomAD v4 |
13 | g.20188981_20188990delinsTTCCAGACAC | CA2077138739 | GJB2 | c.592_601delinsGTGTCTGGAA (p.Val198=)
| |
13 | g.20188982_20188990delinsGAATGTCATGAACACTG | CA261653 | GJB2 | c.592_600delinsCAGTGTTCATGACATTC (p.Val198GlnfsTer4)
| ClinVar dbSNP |
13 | g.20188987A>C | CA387460831 | GJB2 | c.595T>G (p.Ser199Ala)
| ClinVar |
13 | g.20188987A>G | CA387460832 | GJB2 | c.595T>C (p.Ser199Pro)
| ClinVar gnomAD v4 |
13 | g.20188987A>T | CA387460830 | GJB2 | c.595T>A (p.Ser199Thr)
| |
13 | g.20188987dup | CA608984141 | GJB2 | c.595dup (p.Ser199PhefsTer11)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20188988C>A | CA483154292 | GJB2 | c.594G>T (p.Val198=)
| |
13 | g.20188988C= | CA2077138770 | GJB2 | c.594G= (p.Val198=)
| |
13 | g.20188988C>G | CA483154293 | GJB2 | c.594G>C (p.Val198=)
| |
13 | g.20188988C>T | CA6904225 | GJB2 | c.594G>A (p.Val198=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20188990_20188994dup | CA2695217653 | GJB2 | c.590_594dup (p.Ser199GlnfsTer9)
| |
13 | g.20188989A= | CA2077138775 | GJB2 | c.593T= (p.Val198=)
| |
13 | g.20188989A>C | CA6904226 | GJB2 | c.593T>G (p.Val198Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188989A>G | CA387460834 | GJB2 | c.593T>C (p.Val198Ala)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20188989A>T | CA387460833 | GJB2 | c.593T>A (p.Val198Glu)
| gnomAD v4 |
13 | g.20188990C>A | CA387460835 | GJB2 | c.592G>T (p.Val198Leu)
| |
13 | g.20188990C= | CA2077138777 | GJB2 | c.592G= (p.Val198=)
| |
13 | g.20188990C>G | CA387460836 | GJB2 | c.592G>C (p.Val198Leu)
| |
13 | g.20188990C>T | CA387460837 | GJB2 | c.592G>A (p.Val198Met)
| ClinVar dbSNP |
13 | g.20188991T>A | CA483154294 | GJB2 | c.591A>T (p.Ala197=)
| |
13 | g.20188991T>C | CA6904227 | GJB2 | c.591A>G (p.Ala197=)
| dbSNP ExAC gnomAD v2 |
13 | g.20188991T>G | CA483154295 | GJB2 | c.591A>C (p.Ala197=)
| |
13 | g.20188991T= | CA2077138783 | GJB2 | c.591A= (p.Ala197=)
| |
13 | g.20188991_20188992dup | CA608984142 | GJB2 | c.590_591dup (p.Val198GlnfsTer9)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20188992G>A | CA387460838 | GJB2 | c.590C>T (p.Ala197Val)
| dbSNP gnomAD v4 |
13 | g.20188992G>C | CA387460839 | GJB2 | c.590C>G (p.Ala197Gly)
| |
13 | g.20188992G= | CA2077138786 | GJB2 | c.590C= (p.Ala197=)
| |
13 | g.20188992G>T | CA387460840 | GJB2 | c.590C>A (p.Ala197Glu)
| |
13 | g.20188993C>A | CA387460841 | GJB2 | c.589G>T (p.Ala197Ser)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
13 | g.20188993C= | CA2077138789 | GJB2 | c.589G= (p.Ala197=)
| |
13 | g.20188993C>G | CA387460842 | GJB2 | c.589G>C (p.Ala197Pro)
| |
13 | g.20188993C>T | CA6904228 | GJB2 | c.589G>A (p.Ala197Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20188994A= | CA2077138791 | GJB2 | c.588T= (p.Ile196=)
| |
13 | g.20188994A>C | CA6904229 | GJB2 | c.588T>G (p.Ile196Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20188994A>G | CA483154296 | GJB2 | c.588T>C (p.Ile196=)
| ClinVar |
13 | g.20188994A>T | CA483154297 | GJB2 | c.588T>A (p.Ile196=)
| |
13 | g.20188995A= | CA2077138796 | GJB2 | c.587T= (p.Ile196=)
| |
13 | g.20188995A>C | CA6904230 | GJB2 | c.587T>G (p.Ile196Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20188995A>G | CA246459805 | GJB2 | c.587T>C (p.Ile196Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188995A>T | CA387460843 | GJB2 | c.587T>A (p.Ile196Asn)
| |
13 | g.20188996T>A | CA387460844 | GJB2 | c.586A>T (p.Ile196Phe)
| |
13 | g.20188996T>C | CA387460845 | GJB2 | c.586A>G (p.Ile196Val)
| gnomAD v4 |
13 | g.20188996T>G | CA387460846 | GJB2 | c.586A>C (p.Ile196Leu)
| |
13 | g.20188997del | CA2622252257 | GJB2 | c.585del (p.Met195IlefsTer11)
| gnomAD v4 |
13 | g.20188997C>A | CA6904232 | GJB2 | c.585G>T (p.Met195Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20188997C= | CA2077138801 | GJB2 | c.585G= (p.Met195=)
| |
13 | g.20188997C>G | CA6904231 | GJB2 | c.585G>C (p.Met195Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188997C>T | CA387460847 | GJB2 | c.585G>A (p.Met195Ile)
| ClinVar dbSNP gnomAD v4 COSMIC |
13 | g.20188998A= | CA2077138806 | GJB2 | c.584T= (p.Met195=)
| |
13 | g.20188998A>C | CA387460848 | GJB2 | c.584T>G (p.Met195Arg)
| |
13 | g.20188998A>G | CA387460849 | GJB2 | c.584T>C (p.Met195Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20188998A>T | CA387460850 | GJB2 | c.584T>A (p.Met195Lys)
| |
13 | g.20188999T>A | CA246459818 | GJB2 | c.583A>T (p.Met195Leu)
| ClinVar dbSNP gnomAD v4 |
13 | g.20188999T>C | CA6904233 | GJB2 | c.583A>G (p.Met195Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188999T>G | CA387460851 | GJB2 | c.583A>C (p.Met195Leu)
| |
13 | g.20188999T= | CA2077138810 | GJB2 | c.583A= (p.Met195=)
| |
13 | g.20189000G>A | CA241525 | GJB2 | c.582C>T (p.Phe194=)
| ClinVar dbSNP |
13 | g.20189000G>C | CA387460853 | GJB2 | c.582C>G (p.Phe194Leu)
| |
13 | g.20189000G= | CA2077138816 | GJB2 | c.582C= (p.Phe194=)
| |
13 | g.20189000G>T | CA387460852 | GJB2 | c.582C>A (p.Phe194Leu)
| |
13 | g.20189001A>C | CA387460854 | GJB2 | c.581T>G (p.Phe194Cys)
| |
13 | g.20189001A>G | CA387460855 | GJB2 | c.581T>C (p.Phe194Ser)
| |
13 | g.20189001A>T | CA387460856 | GJB2 | c.581T>A (p.Phe194Tyr)
| |
13 | g.20189002A>C | CA387460857 | GJB2 | c.580T>G (p.Phe194Val)
| |
13 | g.20189002A>G | CA387460858 | GJB2 | c.580T>C (p.Phe194Leu)
| |
13 | g.20189002A>T | CA387460859 | GJB2 | c.580T>A (p.Phe194Ile)
| |
13 | g.20189003C>A | CA483153814 | GJB2 | c.579G>T (p.Val193=)
| |
13 | g.20189003C>G | CA483153813 | GJB2 | c.579G>C (p.Val193=)
| |
13 | g.20189003C>T | CA483153812 | GJB2 | c.579G>A (p.Val193=)
| |
13 | g.20189004A>C | CA387460862 | GJB2 | c.578T>G (p.Val193Gly)
| |
13 | g.20189004A>G | CA387460860 | GJB2 | c.578T>C (p.Val193Ala)
| |
13 | g.20189004A>T | CA387460861 | GJB2 | c.578T>A (p.Val193Glu)
| |
13 | g.20189005C>A | CA387460863 | GJB2 | c.577G>T (p.Val193Leu)
| |
13 | g.20189005C>G | CA387460864 | GJB2 | c.577G>C (p.Val193Leu)
| |
13 | g.20189005C>T | CA387460865 | GJB2 | c.577G>A (p.Val193Met)
| |
13 | g.20189005_20189006delinsCT | CA2077138819 | GJB2 | c.576_577delinsAG (p.Thr192=)
| |
13 | g.20189005_20189007delinsCTG | CA2077138820 | GJB2 | c.575_577delinsCAG (p.Thr192=)
| |
13 | g.20189006del | CA6904234 | GJB2 | c.576del (p.Val193CysfsTer3)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189006T>A | CA483153815 | GJB2 | c.576A>T (p.Thr192=)
| |
13 | g.20189006T>C | CA483153816 | GJB2 | c.576A>G (p.Thr192=)
| gnomAD v4 |
13 | g.20189006T>G | CA483153817 | GJB2 | c.576A>C (p.Thr192=)
| ClinVar |
13 | g.20189008_20189009del | CA16041592 | GJB2 | c.575_576del (p.Thr192SerfsTer17)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189007G>A | CA387460866 | GJB2 | c.575C>T (p.Thr192Ile)
| |
13 | g.20189007G>C | CA387460868 | GJB2 | c.575C>G (p.Thr192Arg)
| |
13 | g.20189007G>T | CA387460867 | GJB2 | c.575C>A (p.Thr192Lys)
| |
13 | g.20189008T>A | CA387460869 | GJB2 | c.574A>T (p.Thr192Ser)
| dbSNP |
13 | g.20189008T>C | CA387460870 | GJB2 | c.574A>G (p.Thr192Ala)
| |
13 | g.20189008T>G | CA387460871 | GJB2 | c.574A>C (p.Thr192Pro)
| |
13 | g.20189009G>A | CA483153818 | GJB2 | c.573C>T (p.Phe191=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189009G>C | CA387460872 | GJB2 | c.573C>G (p.Phe191Leu)
| |
13 | g.20189009G= | CA2077138830 | GJB2 | c.573C= (p.Phe191=)
| |
13 | g.20189009G>T | CA387460873 | GJB2 | c.573C>A (p.Phe191Leu)
| |
13 | g.20189010A>C | CA387460874 | GJB2 | c.572T>G (p.Phe191Cys)
| |
13 | g.20189010A>G | CA387460875 | GJB2 | c.572T>C (p.Phe191Ser)
| |
13 | g.20189010A>T | CA387460876 | GJB2 | c.572T>A (p.Phe191Tyr)
| |
13 | g.20189011del | CA2695217654 | GJB2 | c.572del (p.Phe191SerfsTer5)
| |
13 | g.20189011A= | CA2077138836 | GJB2 | c.571T= (p.Phe191=)
| |
13 | g.20189011A>C | CA387460877 | GJB2 | c.571T>G (p.Phe191Val)
| |
13 | g.20189011A>G | CA134989 | GJB2 | c.571T>C (p.Phe191Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189011A>T | CA387460878 | GJB2 | c.571T>A (p.Phe191Ile)
| |
13 | g.20189013_20189016del | CA2622252268 | GJB2 | c.568_571del (p.Val190SerfsTer5)
| ClinVar gnomAD v4 |
13 | g.20189012G>A | CA483153821 | GJB2 | c.570C>T (p.Val190=)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189012G>C | CA483153822 | GJB2 | c.570C>G (p.Val190=)
| |
13 | g.20189012G= | CA2077138838 | GJB2 | c.570C= (p.Val190=)
| |
13 | g.20189012G>T | CA483153823 | GJB2 | c.570C>A (p.Val190=)
| |
13 | g.20189013A= | CA2077138843 | GJB2 | c.569T= (p.Val190=)
| |
13 | g.20189013A>C | CA387460881 | GJB2 | c.569T>G (p.Val190Gly)
| |
13 | g.20189013A>G | CA387460880 | GJB2 | c.569T>C (p.Val190Ala)
| |
13 | g.20189013A>T | CA387460879 | GJB2 | c.569T>A (p.Val190Asp)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189014C>A | CA387460882 | GJB2 | c.568G>T (p.Val190Phe)
| |
13 | g.20189014C>G | CA387460883 | GJB2 | c.568G>C (p.Val190Leu)
| |
13 | g.20189014C>T | CA387460884 | GJB2 | c.568G>A (p.Val190Ile)
| |
13 | g.20189015A= | CA2077138852 | GJB2 | c.567T= (p.Thr189=)
| |
13 | g.20189015A>C | CA246459834 | GJB2 | c.567T>G (p.Thr189=)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189015A>G | CA483153824 | GJB2 | c.567T>C (p.Thr189=)
| ClinVar |
13 | g.20189015A>T | CA483153825 | GJB2 | c.567T>A (p.Thr189=)
| dbSNP |
13 | g.20189016G>A | CA387460885 | GJB2 | c.566C>T (p.Thr189Ile)
| |
13 | g.20189016G>C | CA387460886 | GJB2 | c.566C>G (p.Thr189Ser)
| dbSNP gnomAD v4 |
13 | g.20189016G= | CA2077138856 | GJB2 | c.566C= (p.Thr189=)
| |
13 | g.20189016G>T | CA134987 | GJB2 | c.566C>A (p.Thr189Asn)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189016_20189018delinsGTC | CA2077138861 | GJB2 | c.564_566delinsGAC (p.Lys188=)
| |
13 | g.20189017T>A | CA387460889 | GJB2 | c.565A>T (p.Thr189Ser)
| |
13 | g.20189017T>C | CA387460888 | GJB2 | c.565A>G (p.Thr189Ala)
| gnomAD v4 |
13 | g.20189017T>G | CA387460887 | GJB2 | c.565A>C (p.Thr189Pro)
| |
13 | g.20189018_20189019del | CA6904235 | GJB2 | c.564_565del (p.Lys188AsnfsTer21)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189018C>A | CA387460890 | GJB2 | c.564G>T (p.Lys188Asn)
| |
13 | g.20189018C>G | CA387460891 | GJB2 | c.564G>C (p.Lys188Asn)
| |
13 | g.20189018C>T | CA483153827 | GJB2 | c.564G>A (p.Lys188=)
| |
13 | g.20189019T>A | CA387460892 | GJB2 | c.563A>T (p.Lys188Met)
| |
13 | g.20189019T>C | CA387460893 | GJB2 | c.563A>G (p.Lys188Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189019T>G | CA387460894 | GJB2 | c.563A>C (p.Lys188Thr)
| |
13 | g.20189019T= | CA2077138869 | GJB2 | c.563A= (p.Lys188=)
| |
13 | g.20189020T>A | CA387460897 | GJB2 | c.562A>T (p.Lys188Ter)
| gnomAD v4 |
13 | g.20189020T>C | CA387460895 | GJB2 | c.562A>G (p.Lys188Glu)
| |
13 | g.20189020T>G | CA387460896 | GJB2 | c.562A>C (p.Lys188Gln)
| |
13 | g.20189021C>A | CA387460898 | GJB2 | c.561G>T (p.Glu187Asp)
| |
13 | g.20189021C= | CA2077138879 | GJB2 | c.561G= (p.Glu187=)
| |
13 | g.20189021C>G | CA387460899 | GJB2 | c.561G>C (p.Glu187Asp)
| |
13 | g.20189021C>T | CA6904236 | GJB2 | c.561G>A (p.Glu187=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189022_20189024del | CA2695217655 | GJB2 | c.559_561del (p.Glu187del)
| |
13 | g.20189022T>A | CA387460900 | GJB2 | c.560A>T (p.Glu187Val)
| |
13 | g.20189022T>C | CA387460901 | GJB2 | c.560A>G (p.Glu187Gly)
| ClinVar dbSNP |
13 | g.20189022T>G | CA387460902 | GJB2 | c.560A>C (p.Glu187Ala)
| |
13 | g.20189022T= | CA2077138884 | GJB2 | c.560A= (p.Glu187=)
| |
13 | g.20189023C>A | CA387460903 | GJB2 | c.559G>T (p.Glu187Ter)
| |
13 | g.20189023C>G | CA387460904 | GJB2 | c.559G>C (p.Glu187Gln)
| |
13 | g.20189023C>T | CA387460905 | GJB2 | c.559G>A (p.Glu187Lys)
| COSMIC |
13 | g.20189024C>A | CA483153831 | GJB2 | c.558G>T (p.Thr186=)
| |
13 | g.20189024C= | CA2077138889 | GJB2 | c.558G= (p.Thr186=)
| |
13 | g.20189024C>G | CA483153832 | GJB2 | c.558G>C (p.Thr186=)
| |
13 | g.20189024C>T | CA6904237 | GJB2 | c.558G>A (p.Thr186=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189025G>A | CA6904238 | GJB2 | c.557C>T (p.Thr186Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189025G>C | CA387460906 | GJB2 | c.557C>G (p.Thr186Arg)
| |
13 | g.20189025G= | CA2077138893 | GJB2 | c.557C= (p.Thr186=)
| |
13 | g.20189025G>T | CA387460907 | GJB2 | c.557C>A (p.Thr186Lys)
| ClinVar |
13 | g.20189026T>A | CA387460908 | GJB2 | c.556A>T (p.Thr186Ser)
| |
13 | g.20189026T>C | CA246459866 | GJB2 | c.556A>G (p.Thr186Ala)
| dbSNP gnomAD v4 |
13 | g.20189026T>G | CA387460909 | GJB2 | c.556A>C (p.Thr186Pro)
| |
13 | g.20189026T= | CA2077138895 | GJB2 | c.556A= (p.Thr186=)
| |
13 | g.20189027G>A | CA6904239 | GJB2 | c.555C>T (p.Pro185=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189027G>C | CA483153834 | GJB2 | c.555C>G (p.Pro185=)
| |
13 | g.20189027G= | CA2077138898 | GJB2 | c.555C= (p.Pro185=)
| |
13 | g.20189027G>T | CA483153837 | GJB2 | c.555C>A (p.Pro185=)
| |
13 | g.20189028G>A | CA387460910 | GJB2 | c.554C>T (p.Pro185Leu)
| |
13 | g.20189028G>C | CA387460911 | GJB2 | c.554C>G (p.Pro185Arg)
| |
13 | g.20189028G>T | CA387460912 | GJB2 | c.554C>A (p.Pro185His)
| |
13 | g.20189029G>A | CA387460913 | GJB2 | c.553C>T (p.Pro185Ser)
| |
13 | g.20189029G>C | CA387460914 | GJB2 | c.553C>G (p.Pro185Ala)
| |
13 | g.20189029G>T | CA387460915 | GJB2 | c.553C>A (p.Pro185Thr)
| |
13 | g.20189030C>A | CA483153840 | GJB2 | c.552G>T (p.Arg184=)
| |
13 | g.20189030C>G | CA483153841 | GJB2 | c.552G>C (p.Arg184=)
| |
13 | g.20189030C>T | CA483153842 | GJB2 | c.552G>A (p.Arg184=)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189031C>A | CA387460916 | GJB2 | c.551G>T (p.Arg184Leu)
| |
13 | g.20189031C= | CA2077138903 | GJB2 | c.551G= (p.Arg184=)
| |
13 | g.20189031C>G | CA341438 | GJB2 | c.551G>C (p.Arg184Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189031C>T | CA172235 | GJB2 | c.551G>A (p.Arg184Gln)
| ClinVar dbSNP |
13 | g.20189032G>A | CA246459909 | GJB2 | c.550C>T (p.Arg184Trp)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189032G>C | CA387460917 | GJB2 | c.550C>G (p.Arg184Gly)
| |
13 | g.20189032G= | CA2077138906 | GJB2 | c.550C= (p.Arg184=)
| |
13 | g.20189032G>T | CA483153843 | GJB2 | c.550C>A (p.Arg184=)
| |
13 | g.20189033G>A | CA483153845 | GJB2 | c.549C>T (p.Ser183=)
| |
13 | g.20189033G>C | CA483153846 | GJB2 | c.549C>G (p.Ser183=)
| |
13 | g.20189033G>T | CA483153844 | GJB2 | c.549C>A (p.Ser183=)
| |
13 | g.20189034G>A | CA387460920 | GJB2 | c.548C>T (p.Ser183Phe)
| ClinVar |
13 | g.20189034G>C | CA387460919 | GJB2 | c.548C>G (p.Ser183Cys)
| |
13 | g.20189034G>T | CA387460918 | GJB2 | c.548C>A (p.Ser183Tyr)
| |
13 | g.20189035A>C | CA387460921 | GJB2 | c.547T>G (p.Ser183Ala)
| |
13 | g.20189035A>G | CA387460922 | GJB2 | c.547T>C (p.Ser183Pro)
| |
13 | g.20189035A>T | CA387460923 | GJB2 | c.547T>A (p.Ser183Thr)
| |
13 | g.20189036C>A | CA483153850 | GJB2 | c.546G>T (p.Val182=)
| ClinVar |
13 | g.20189036C= | CA2077138912 | GJB2 | c.546G= (p.Val182=)
| |
13 | g.20189036C>G | CA483153851 | GJB2 | c.546G>C (p.Val182=)
| |
13 | g.20189036C>T | CA6904240 | GJB2 | c.546G>A (p.Val182=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189037A>C | CA387460924 | GJB2 | c.545T>G (p.Val182Gly)
| |
13 | g.20189037A>G | CA387460925 | GJB2 | c.545T>C (p.Val182Ala)
| |
13 | g.20189037A>T | CA387460926 | GJB2 | c.545T>A (p.Val182Glu)
| |
13 | g.20189038C>A | CA387460927 | GJB2 | c.544G>T (p.Val182Leu)
| |
13 | g.20189038C>G | CA387460928 | GJB2 | c.544G>C (p.Val182Leu)
| |
13 | g.20189038C>T | CA387460929 | GJB2 | c.544G>A (p.Val182Met)
| |
13 | g.20189039A= | CA2077138917 | GJB2 | c.543T= (p.Phe181=)
| |
13 | g.20189039A>C | CA387460930 | GJB2 | c.543T>G (p.Phe181Leu)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189039A>G | CA483153856 | GJB2 | c.543T>C (p.Phe181=)
| |
13 | g.20189039A>T | CA387460931 | GJB2 | c.543T>A (p.Phe181Leu)
| |
13 | g.20189040A>C | CA387460932 | GJB2 | c.542T>G (p.Phe181Cys)
| |
13 | g.20189040A>G | CA387460934 | GJB2 | c.542T>C (p.Phe181Ser)
| |
13 | g.20189040A>T | CA387460933 | GJB2 | c.542T>A (p.Phe181Tyr)
| |
13 | g.20189041A= | CA2077138919 | GJB2 | c.541T= (p.Phe181=)
| |
13 | g.20189041A>C | CA387460935 | GJB2 | c.541T>G (p.Phe181Val)
| |
13 | g.20189041A>G | CA387460937 | GJB2 | c.541T>C (p.Phe181Leu)
| |
13 | g.20189041A>T | CA387460936 | GJB2 | c.541T>A (p.Phe181Ile)
| dbSNP |
13 | g.20189042G>A | CA483153857 | GJB2 | c.540C>T (p.Cys180=)
| gnomAD v4 |
13 | g.20189042G>C | CA387460938 | GJB2 | c.540C>G (p.Cys180Trp)
| |
13 | g.20189042G>T | CA387460939 | GJB2 | c.540C>A (p.Cys180Ter)
| |
13 | g.20189043C>A | CA387460940 | GJB2 | c.539G>T (p.Cys180Phe)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189043C= | CA2077138922 | GJB2 | c.539G= (p.Cys180=)
| |
13 | g.20189043C>G | CA387460942 | GJB2 | c.539G>C (p.Cys180Ser)
| |
13 | g.20189043C>T | CA387460941 | GJB2 | c.539G>A (p.Cys180Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189044A>C | CA387460943 | GJB2 | c.538T>G (p.Cys180Gly)
| |
13 | g.20189044A>G | CA387460945 | GJB2 | c.538T>C (p.Cys180Arg)
| |
13 | g.20189044A>T | CA387460944 | GJB2 | c.538T>A (p.Cys180Ser)
| |
13 | g.20189045G>A | CA6904241 | GJB2 | c.537C>T (p.Asp179=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189045G>C | CA387460946 | GJB2 | c.537C>G (p.Asp179Glu)
| |
13 | g.20189045G= | CA2077138927 | GJB2 | c.537C= (p.Asp179=)
| |
13 | g.20189045G>T | CA387460947 | GJB2 | c.537C>A (p.Asp179Glu)
| |
13 | g.20189046T>A | CA387460948 | GJB2 | c.536A>T (p.Asp179Val)
| |
13 | g.20189046T>C | CA387460949 | GJB2 | c.536A>G (p.Asp179Gly)
| |
13 | g.20189046T>G | CA387460950 | GJB2 | c.536A>C (p.Asp179Ala)
| |
13 | g.20189047C>A | CA6904242 | GJB2 | c.535G>T (p.Asp179Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189047C= | CA2077138930 | GJB2 | c.535G= (p.Asp179=)
| |
13 | g.20189047C>G | CA387460951 | GJB2 | c.535G>C (p.Asp179His)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189047C>T | CA257681 | GJB2 | c.535G>A (p.Asp179Asn)
| ClinVar dbSNP |
13 | g.20189048del | CA2622252279 | GJB2 | c.535del (p.Asp179ThrfsTer17)
| gnomAD v4 |
13 | g.20189048C>A | CA483153862 | GJB2 | c.534G>T (p.Val178=)
| |
13 | g.20189048C= | CA2077138936 | GJB2 | c.534G= (p.Val178=)
| |
13 | g.20189048C>G | CA483153863 | GJB2 | c.534G>C (p.Val178=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189048C>T | CA483153864 | GJB2 | c.534G>A (p.Val178=)
| |
13 | g.20189048_20189059delinsCACAGTGTTGGG | CA2077138937 | GJB2 | c.523_534delinsCCCAACACTGTG (p.Pro175=)
| |
13 | g.20189049A= | CA2077138941 | GJB2 | c.533T= (p.Val178=)
| |
13 | g.20189049A>C | CA387460953 | GJB2 | c.533T>G (p.Val178Gly)
| |
13 | g.20189049A>G | CA6904243 | GJB2 | c.533T>C (p.Val178Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189049A>T | CA387460952 | GJB2 | c.533T>A (p.Val178Glu)
| |
13 | g.20189052_20189062del | CA10576936 | GJB2 | c.523_533del (p.Pro175GlyfsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189050C>A | CA387460954 | GJB2 | c.532G>T (p.Val178Leu)
| ClinVar dbSNP |
13 | g.20189050C= | CA2077138942 | GJB2 | c.532G= (p.Val178=)
| |
13 | g.20189050C>G | CA387460955 | GJB2 | c.532G>C (p.Val178Leu)
| |
13 | g.20189050C>T | CA387460956 | GJB2 | c.532G>A (p.Val178Met)
| dbSNP COSMIC |
13 | g.20189053_20189069del | CA2695217656 | GJB2 | c.516_532del (p.Trp172CysfsTer?)
| |
13 | g.20189051A= | CA2077138944 | GJB2 | c.531T= (p.Thr177=)
| |
13 | g.20189051A>C | CA483153869 | GJB2 | c.531T>G (p.Thr177=)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189051A>G | CA483153870 | GJB2 | c.531T>C (p.Thr177=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189051A>T | CA483153871 | GJB2 | c.531T>A (p.Thr177=)
| gnomAD v4 |
13 | g.20189052G>A | CA387460957 | GJB2 | c.530C>T (p.Thr177Ile)
| gnomAD v4 |
13 | g.20189052G>C | CA387460958 | GJB2 | c.530C>G (p.Thr177Ser)
| |
13 | g.20189052G>T | CA387460959 | GJB2 | c.530C>A (p.Thr177Asn)
| |
13 | g.20189053T>A | CA387460960 | GJB2 | c.529A>T (p.Thr177Ser)
| |
13 | g.20189053T>C | CA6904244 | GJB2 | c.529A>G (p.Thr177Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189053T>G | CA387460961 | GJB2 | c.529A>C (p.Thr177Pro)
| |
13 | g.20189053T= | CA2077138947 | GJB2 | c.529A= (p.Thr177=)
| |
13 | g.20189054G>A | CA483153873 | GJB2 | c.528C>T (p.Asn176=)
| gnomAD v4 |
13 | g.20189054G>C | CA387460962 | GJB2 | c.528C>G (p.Asn176Lys)
| |
13 | g.20189054G>T | CA387460963 | GJB2 | c.528C>A (p.Asn176Lys)
| ClinVar |
13 | g.20189055T>A | CA387460965 | GJB2 | c.527A>T (p.Asn176Ile)
| |
13 | g.20189055T>C | CA387460966 | GJB2 | c.527A>G (p.Asn176Ser)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189055T>G | CA387460964 | GJB2 | c.527A>C (p.Asn176Thr)
| |
13 | g.20189055T= | CA2077138948 | GJB2 | c.527A= (p.Asn176=)
| |
13 | g.20189056T>A | CA387460967 | GJB2 | c.526A>T (p.Asn176Tyr)
| |
13 | g.20189056T>C | CA6904245 | GJB2 | c.526A>G (p.Asn176Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189056T>G | CA387460968 | GJB2 | c.526A>C (p.Asn176His)
| |
13 | g.20189056T= | CA2077138951 | GJB2 | c.526A= (p.Asn176=)
| |
13 | g.20189057G>A | CA483153876 | GJB2 | c.525C>T (p.Pro175=)
| |
13 | g.20189057G>C | CA483153875 | GJB2 | c.525C>G (p.Pro175=)
| |
13 | g.20189057G= | CA2077138953 | GJB2 | c.525C= (p.Pro175=)
| |
13 | g.20189057G>T | CA6904246 | GJB2 | c.525C>A (p.Pro175=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189058G>A | CA387460969 | GJB2 | c.524C>T (p.Pro175Leu)
| |
13 | g.20189058G>C | CA387460970 | GJB2 | c.524C>G (p.Pro175Arg)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189058G>T | CA387460971 | GJB2 | c.524C>A (p.Pro175His)
| |
13 | g.20189059G>A | CA387460972 | GJB2 | c.523C>T (p.Pro175Ser)
| |
13 | g.20189059G>C | CA387460973 | GJB2 | c.523C>G (p.Pro175Ala)
| |
13 | g.20189059G>T | CA387460974 | GJB2 | c.523C>A (p.Pro175Thr)
| |
13 | g.20189060A>C | CA387460975 | GJB2 | c.522T>G (p.Cys174Trp)
| |
13 | g.20189060A>G | CA483153879 | GJB2 | c.522T>C (p.Cys174=)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189060A>T | CA387460976 | GJB2 | c.522T>A (p.Cys174Ter)
| |
13 | g.20189060_20189073del | CA2695217657 | GJB2 | c.509_522del (p.Asn170ThrfsTer?)
| |
13 | g.20189061C>A | CA387460979 | GJB2 | c.521G>T (p.Cys174Phe)
| |
13 | g.20189061C>G | CA387460977 | GJB2 | c.521G>C (p.Cys174Ser)
| |
13 | g.20189061C>T | CA387460978 | GJB2 | c.521G>A (p.Cys174Tyr)
| |
13 | g.20189062A>C | CA387460980 | GJB2 | c.520T>G (p.Cys174Gly)
| |
13 | g.20189062A>G | CA387460981 | GJB2 | c.520T>C (p.Cys174Arg)
| |
13 | g.20189062A>T | CA387460982 | GJB2 | c.520T>A (p.Cys174Ser)
| |
13 | g.20189063A= | CA2077138957 | GJB2 | c.519T= (p.Pro173=)
| |
13 | g.20189063A>C | CA483153880 | GJB2 | c.519T>G (p.Pro173=)
| |
13 | g.20189063A>G | CA483153881 | GJB2 | c.519T>C (p.Pro173=)
| dbSNP |
13 | g.20189063A>T | CA483153882 | GJB2 | c.519T>A (p.Pro173=)
| |
13 | g.20189064G>A | CA387460983 | GJB2 | c.518C>T (p.Pro173Leu)
| ClinVar dbSNP COSMIC |
13 | g.20189064G>C | CA387460984 | GJB2 | c.518C>G (p.Pro173Arg)
| ClinVar |
13 | g.20189064G= | CA2077138963 | GJB2 | c.518C= (p.Pro173=)
| |
13 | g.20189064G>T | CA387460985 | GJB2 | c.518C>A (p.Pro173His)
| |
13 | g.20189065G>A | CA387460986 | GJB2 | c.517C>T (p.Pro173Ser)
| ClinVar dbSNP |
13 | g.20189065G>C | CA387460987 | GJB2 | c.517C>G (p.Pro173Ala)
| |
13 | g.20189065G= | CA2077138968 | GJB2 | c.517C= (p.Pro173=)
| |
13 | g.20189065G>T | CA387460988 | GJB2 | c.517C>A (p.Pro173Thr)
| |
13 | g.20189066C>A | CA387460989 | GJB2 | c.516G>T (p.Trp172Cys)
| |
13 | g.20189066C= | CA2077138974 | GJB2 | c.516G= (p.Trp172=)
| |
13 | g.20189066C>G | CA387460990 | GJB2 | c.516G>C (p.Trp172Cys)
| ClinVar dbSNP |
13 | g.20189066C>T | CA387460991 | GJB2 | c.516G>A (p.Trp172Ter)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189067C>A | CA387460994 | GJB2 | c.515G>T (p.Trp172Leu)
| |
13 | g.20189067C>G | CA387460993 | GJB2 | c.515G>C (p.Trp172Ser)
| |
13 | g.20189067C>T | CA387460992 | GJB2 | c.515G>A (p.Trp172Ter)
| |
13 | g.20189067_20189068delinsCA | CA2077138980 | GJB2 | c.514_515delinsTG (p.Trp172=)
| |
13 | g.20189068del | CA16041593 | GJB2 | c.514del (p.Trp172GlyfsTer24)
| ClinVar dbSNP |
13 | g.20189068A= | CA2077138987 | GJB2 | c.514T= (p.Trp172=)
| |
13 | g.20189068A>C | CA387460995 | GJB2 | c.514T>G (p.Trp172Gly)
| |
13 | g.20189068A>G | CA387460996 | GJB2 | c.514T>C (p.Trp172Arg)
| |
13 | g.20189068A>T | CA6904247 | GJB2 | c.514T>A (p.Trp172Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189069G>A | CA483153887 | GJB2 | c.513C>T (p.Ala171=)
| |
13 | g.20189069G>C | CA483153888 | GJB2 | c.513C>G (p.Ala171=)
| ClinVar dbSNP |
13 | g.20189069G>T | CA483153889 | GJB2 | c.513C>A (p.Ala171=)
| |
13 | g.20189069_20189070insCGTT | CA2695217659 | GJB2 | c.512_513insAACG (p.Trp172ThrfsTer?)
| |
13 | g.20189070G>A | CA387460997 | GJB2 | c.512C>T (p.Ala171Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189070G>C | CA387460998 | GJB2 | c.512C>G (p.Ala171Gly)
| |
13 | g.20189070G= | CA2077138993 | GJB2 | c.512C= (p.Ala171=)
| |
13 | g.20189070G>T | CA387460999 | GJB2 | c.512C>A (p.Ala171Asp)
| |
13 | g.20189071_20189072del | CA2695217658 | GJB2 | c.511_512del (p.Ala171LeufsTer?)
| |
13 | g.20189071C>A | CA387461000 | GJB2 | c.511G>T (p.Ala171Ser)
| dbSNP gnomAD v4 |
13 | g.20189071C= | CA2077139003 | GJB2 | c.511G= (p.Ala171=)
| |
13 | g.20189071C>G | CA387461001 | GJB2 | c.511G>C (p.Ala171Pro)
| gnomAD v4 |
13 | g.20189071C>T | CA134985 | GJB2 | c.511G>A (p.Ala171Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189071_20189074dup | CA274346 | GJB2 | c.508_511dup (p.Ala171GlufsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189072_20189081del | CA2695217660 | GJB2 | c.502_511del (p.Lys168ProfsTer25)
| |
13 | g.20189072G>A | CA6904249 | GJB2 | c.510C>T (p.Asn170=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189072G>C | CA387461002 | GJB2 | c.510C>G (p.Asn170Lys)
| |
13 | g.20189072G= | CA2077139009 | GJB2 | c.510C= (p.Asn170=)
| |
13 | g.20189072G>T | CA6904250 | GJB2 | c.510C>A (p.Asn170Lys)
| dbSNP ExAC |
13 | g.20189073T>A | CA387461003 | GJB2 | c.509A>T (p.Asn170Ile)
| |
13 | g.20189073T>C | CA387461005 | GJB2 | c.509A>G (p.Asn170Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189073T>G | CA387461004 | GJB2 | c.509A>C (p.Asn170Thr)
| |
13 | g.20189073T= | CA2077139016 | GJB2 | c.509A= (p.Asn170=)
| |
13 | g.20189074dup | CA6904248 | GJB2 | c.509dup (p.Asn170LysfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189074T>A | CA387461006 | GJB2 | c.508A>T (p.Asn170Tyr)
| |
13 | g.20189074T>C | CA387461007 | GJB2 | c.508A>G (p.Asn170Asp)
| |
13 | g.20189074T>G | CA387461008 | GJB2 | c.508A>C (p.Asn170His)
| |
13 | g.20189075G>A | CA483153895 | GJB2 | c.507C>T (p.Cys169=)
| |
13 | g.20189075G>C | CA387461009 | GJB2 | c.507C>G (p.Cys169Trp)
| gnomAD v4 |
13 | g.20189075G>T | CA387461010 | GJB2 | c.507C>A (p.Cys169Ter)
| |
13 | g.20189076C>A | CA387461011 | GJB2 | c.506G>T (p.Cys169Phe)
| |
13 | g.20189076C= | CA2077139020 | GJB2 | c.506G= (p.Cys169=)
| |
13 | g.20189076C>G | CA387461012 | GJB2 | c.506G>C (p.Cys169Ser)
| |
13 | g.20189076C>T | CA6904251 | GJB2 | c.506G>A (p.Cys169Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189077A= | CA2077139024 | GJB2 | c.505T= (p.Cys169=)
| |
13 | g.20189077A>C | CA6904252 | GJB2 | c.505T>G (p.Cys169Gly)
| dbSNP ExAC |
13 | g.20189077A>G | CA6904253 | GJB2 | c.505T>C (p.Cys169Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189077A>T | CA6904254 | GJB2 | c.505T>A (p.Cys169Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189078C>A | CA387461013 | GJB2 | c.504G>T (p.Lys168Asn)
| gnomAD v4 |
13 | g.20189078C>G | CA387461014 | GJB2 | c.504G>C (p.Lys168Asn)
| gnomAD v4 |
13 | g.20189078C>T | CA483153900 | GJB2 | c.504G>A (p.Lys168=)
| ClinVar dbSNP |
13 | g.20189078_20189079insCTTC | CA2695217661 | GJB2 | c.504_505insAAGG (p.Cys169LysfsTer?)
| |
13 | g.20189079T>A | CA387461015 | GJB2 | c.503A>T (p.Lys168Met)
| |
13 | g.20189079T>C | CA134979 | GJB2 | c.503A>G (p.Lys168Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189079T>G | CA387461016 | GJB2 | c.503A>C (p.Lys168Thr)
| |
13 | g.20189079T= | CA2077139031 | GJB2 | c.503A= (p.Lys168=)
| |
13 | g.20189080dup | CA2842434863 | GJB2 | c.503dup (p.Cys169ValfsTer?)
| |
13 | g.20189080T>A | CA387461017 | GJB2 | c.502A>T (p.Lys168Ter)
| |
13 | g.20189080T>C | CA6904255 | GJB2 | c.502A>G (p.Lys168Glu)
| dbSNP ExAC gnomAD v2 |
13 | g.20189080T>G | CA387461018 | GJB2 | c.502A>C (p.Lys168Gln)
| |
13 | g.20189080T= | CA2077139036 | GJB2 | c.502A= (p.Lys168=)
| |
13 | g.20189081C>A | CA483153903 | GJB2 | c.501G>T (p.Val167=)
| |
13 | g.20189081C>G | CA483153904 | GJB2 | c.501G>C (p.Val167=)
| |
13 | g.20189081C>T | CA483153906 | GJB2 | c.501G>A (p.Val167=)
| |
13 | g.20189082A= | CA2077139042 | GJB2 | c.500T= (p.Val167=)
| |
13 | g.20189082A>C | CA6904256 | GJB2 | c.500T>G (p.Val167Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189082A>G | CA387461019 | GJB2 | c.500T>C (p.Val167Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189082A>T | CA387461020 | GJB2 | c.500T>A (p.Val167Glu)
| |
13 | g.20189083C>A | CA387461021 | GJB2 | c.499G>T (p.Val167Leu)
| |
13 | g.20189083C= | CA2077139045 | GJB2 | c.499G= (p.Val167=)
| |
13 | g.20189083C>G | CA387461022 | GJB2 | c.499G>C (p.Val167Leu)
| |
13 | g.20189083C>T | CA134983 | GJB2 | c.499G>A (p.Val167Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189084C>A | CA483153907 | GJB2 | c.498G>T (p.Leu166=)
| |
13 | g.20189084C>G | CA483153908 | GJB2 | c.498G>C (p.Leu166=)
| |
13 | g.20189084C>T | CA483153909 | GJB2 | c.498G>A (p.Leu166=)
| |
13 | g.20189085A>C | CA387461025 | GJB2 | c.497T>G (p.Leu166Arg)
| |
13 | g.20189085A>G | CA387461024 | GJB2 | c.497T>C (p.Leu166Pro)
| |
13 | g.20189085A>T | CA387461023 | GJB2 | c.497T>A (p.Leu166Gln)
| |
13 | g.20189086G>A | CA483153912 | GJB2 | c.496C>T (p.Leu166=)
| |
13 | g.20189086G>C | CA387461026 | GJB2 | c.496C>G (p.Leu166Val)
| |
13 | g.20189086G>T | CA387461027 | GJB2 | c.496C>A (p.Leu166Met)
| |
13 | g.20189087C>A | CA483153913 | GJB2 | c.495G>T (p.Arg165=)
| |
13 | g.20189087C>G | CA483153914 | GJB2 | c.495G>C (p.Arg165=)
| |
13 | g.20189087C>T | CA483153915 | GJB2 | c.495G>A (p.Arg165=)
| |
13 | g.20189088dup | CA2622252281 | GJB2 | c.495dup (p.Leu166AlafsTer?)
| gnomAD v4 |