13 | g.20189440_20189445del | CA2695217722 | GJB2 | c.138_143del (p.Asp46_Gln48delinsGlu)
| |
13 | g.20189440_20189445delinsGCTCAT | CA2077140204 | GJB2 | c.137_142delinsATGAGC (p.Asp46=)
| |
13 | g.20189441C>A | CA387461825 | GJB2 | c.141G>T (p.Glu47Asp)
| |
13 | g.20189441C= | CA2077140210 | GJB2 | c.141G= (p.Glu47=)
| |
13 | g.20189441C>G | CA387461826 | GJB2 | c.141G>C (p.Glu47Asp)
| |
13 | g.20189441C>T | CA246460808 | GJB2 | c.141G>A (p.Glu47=)
| dbSNP gnomAD v4 |
13 | g.20189444_20189448del | CA1139663002 | GJB2 | c.137_141del (p.Asp46AlafsTer?)
| ClinVar dbSNP |
13 | g.20189442T>A | CA387461831 | GJB2 | c.140A>T (p.Glu47Val)
| |
13 | g.20189442T>C | CA387461830 | GJB2 | c.140A>G (p.Glu47Gly)
| |
13 | g.20189442T>G | CA387461829 | GJB2 | c.140A>C (p.Glu47Ala)
| |
13 | g.20189443C>A | CA172213 | GJB2 | c.139G>T (p.Glu47Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189443C= | CA2077140219 | GJB2 | c.139G= (p.Glu47=)
| |
13 | g.20189443C>G | CA387461834 | GJB2 | c.139G>C (p.Glu47Gln)
| |
13 | g.20189443C>T | CA387461835 | GJB2 | c.139G>A (p.Glu47Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189444A>C | CA387461837 | GJB2 | c.138T>G (p.Asp46Glu)
| |
13 | g.20189444A>G | CA483153874 | GJB2 | c.138T>C (p.Asp46=)
| |
13 | g.20189444A>T | CA387461839 | GJB2 | c.138T>A (p.Asp46Glu)
| |
13 | g.20189445T>A | CA387461841 | GJB2 | c.137A>T (p.Asp46Val)
| |
13 | g.20189445T>C | CA387461843 | GJB2 | c.137A>G (p.Asp46Gly)
| |
13 | g.20189445T>G | CA387461844 | GJB2 | c.137A>C (p.Asp46Ala)
| |
13 | g.20189446C>A | CA387461846 | GJB2 | c.136G>T (p.Asp46Tyr)
| |
13 | g.20189446C= | CA2077140225 | GJB2 | c.136G= (p.Asp46=)
| |
13 | g.20189446C>G | CA387461847 | GJB2 | c.136G>C (p.Asp46His)
| ClinVar dbSNP |
13 | g.20189446C>T | CA16621541 | GJB2 | c.136G>A (p.Asp46Asn)
| ClinVar dbSNP |
13 | g.20189447T>A | CA6904312 | GJB2 | c.135A>T (p.Gly45=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189447T>C | CA483153877 | GJB2 | c.135A>G (p.Gly45=)
| dbSNP |
13 | g.20189447T>G | CA483153878 | GJB2 | c.135A>C (p.Gly45=)
| |
13 | g.20189447T= | CA2077140233 | GJB2 | c.135A= (p.Gly45=)
| |
13 | g.20189447_20189448delinsTC | CA2077140234 | GJB2 | c.134_135delinsGA (p.Gly45=)
| |
13 | g.20189448C>A | CA387461852 | GJB2 | c.134G>T (p.Gly45Val)
| |
13 | g.20189448C= | CA2077140245 | GJB2 | c.134G= (p.Gly45=)
| |
13 | g.20189448C>G | CA387461853 | GJB2 | c.134G>C (p.Gly45Ala)
| |
13 | g.20189448C>T | CA127033 | GJB2 | c.134G>A (p.Gly45Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189451del | CA16041594 | GJB2 | c.134del (p.Gly45GlufsTer?)
| ClinVar dbSNP |
13 | g.20189449C>A | CA387461857 | GJB2 | c.133G>T (p.Gly45Ter)
| gnomAD v4 |
13 | g.20189449C= | CA2077140251 | GJB2 | c.133G= (p.Gly45=)
| |
13 | g.20189449C>G | CA387461855 | GJB2 | c.133G>C (p.Gly45Arg)
| |
13 | g.20189449C>T | CA387461860 | GJB2 | c.133G>A (p.Gly45Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189450C>A | CA387461862 | GJB2 | c.132G>T (p.Trp44Cys)
| |
13 | g.20189450C= | CA2077140259 | GJB2 | c.132G= (p.Trp44=)
| |
13 | g.20189450C>G | CA257679 | GJB2 | c.132G>C (p.Trp44Cys)
| ClinVar dbSNP |
13 | g.20189450C>T | CA172211 | GJB2 | c.132G>A (p.Trp44Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189450_20189452delinsCCA | CA2077140263 | GJB2 | c.130_132delinsTGG (p.Trp44=)
| |
13 | g.20189451_20189453del | CA912980099 | GJB2 | c.130_132del (p.Trp44del)
| |
13 | g.20189451C>A | CA387461866 | GJB2 | c.131G>T (p.Trp44Leu)
| |
13 | g.20189451C= | CA2077140276 | GJB2 | c.131G= (p.Trp44=)
| |
13 | g.20189451C>G | CA257682 | GJB2 | c.131G>C (p.Trp44Ser)
| ClinVar dbSNP |
13 | g.20189451C>T | CA274012 | GJB2 | c.131G>A (p.Trp44Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189454_20189455del | CA658823494 | GJB2 | c.130_131del (p.Trp44GlyfsTer3)
| ClinVar dbSNP |
13 | g.20189452A>C | CA387461870 | GJB2 | c.130T>G (p.Trp44Gly)
| |
13 | g.20189452A>G | CA387461871 | GJB2 | c.130T>C (p.Trp44Arg)
| |
13 | g.20189452A>T | CA387461872 | GJB2 | c.130T>A (p.Trp44Arg)
| |
13 | g.20189453del | CA2695217723 | GJB2 | c.129del (p.Trp44GlyfsTer?)
| |
13 | g.20189453C>A | CA483153883 | GJB2 | c.129G>T (p.Val43=)
| |
13 | g.20189453C>G | CA483153884 | GJB2 | c.129G>C (p.Val43=)
| |
13 | g.20189453C>T | CA483153885 | GJB2 | c.129G>A (p.Val43=)
| |
13 | g.20189454A= | CA2077140282 | GJB2 | c.128T= (p.Val43=)
| |
13 | g.20189454A>C | CA387461874 | GJB2 | c.128T>G (p.Val43Gly)
| dbSNP |
13 | g.20189454A>G | CA6904313 | GJB2 | c.128T>C (p.Val43Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189454A>T | CA387461876 | GJB2 | c.128T>A (p.Val43Glu)
| |
13 | g.20189454_20189457delinsACCT | CA2077140283 | GJB2 | c.125_128delinsAGGT (p.Glu42=)
| |
13 | g.20189454_20189461del | CA2575364824 | GJB2 | c.121_128del (p.Lys41ValfsTer4)
| |
13 | g.20189455C>A | CA387461883 | GJB2 | c.127G>T (p.Val43Leu)
| |
13 | g.20189455C>G | CA387461881 | GJB2 | c.127G>C (p.Val43Leu)
| |
13 | g.20189455C>T | CA387461879 | GJB2 | c.127G>A (p.Val43Met)
| |
13 | g.20189456del | CA2695217724 | GJB2 | c.127del (p.Val43CysfsTer?)
| |
13 | g.20189458_20189460del | CA658795176 | GJB2 | c.125_127del (p.Glu42del)
| ClinVar dbSNP |
13 | g.20189456C>A | CA6904314 | GJB2 | c.126G>T (p.Glu42Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189456C= | CA2077140289 | GJB2 | c.126G= (p.Glu42=)
| |
13 | g.20189456C>G | CA387461886 | GJB2 | c.126G>C (p.Glu42Asp)
| gnomAD v4 |
13 | g.20189456C>T | CA6904315 | GJB2 | c.126G>A (p.Glu42=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189457T>A | CA387461888 | GJB2 | c.125A>T (p.Glu42Val)
| |
13 | g.20189457T>C | CA387461890 | GJB2 | c.125A>G (p.Glu42Gly)
| |
13 | g.20189457T>G | CA387461892 | GJB2 | c.125A>C (p.Glu42Ala)
| |
13 | g.20189458C>A | CA387461893 | GJB2 | c.124G>T (p.Glu42Ter)
| COSMIC |
13 | g.20189458C>G | CA387461895 | GJB2 | c.124G>C (p.Glu42Gln)
| |
13 | g.20189458C>T | CA387461894 | GJB2 | c.124G>A (p.Glu42Lys)
| |
13 | g.20189459C>A | CA387461897 | GJB2 | c.123G>T (p.Lys41Asn)
| |
13 | g.20189459C>G | CA387461899 | GJB2 | c.123G>C (p.Lys41Asn)
| |
13 | g.20189459C>T | CA483153886 | GJB2 | c.123G>A (p.Lys41=)
| |
13 | g.20189460T>A | CA387461901 | GJB2 | c.122A>T (p.Lys41Met)
| |
13 | g.20189460T>C | CA246460871 | GJB2 | c.122A>G (p.Lys41Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189460T>G | CA387461902 | GJB2 | c.122A>C (p.Lys41Thr)
| gnomAD v4 |
13 | g.20189460T= | CA2077140292 | GJB2 | c.122A= (p.Lys41=)
| |
13 | g.20189461T>A | CA387461904 | GJB2 | c.121A>T (p.Lys41Ter)
| |
13 | g.20189461T>C | CA387461906 | GJB2 | c.121A>G (p.Lys41Glu)
| gnomAD v4 |
13 | g.20189461T>G | CA387461908 | GJB2 | c.121A>C (p.Lys41Gln)
| |
13 | g.20189462T>A | CA483153890 | GJB2 | c.120A>T (p.Ala40=)
| |
13 | g.20189462T>C | CA483153891 | GJB2 | c.120A>G (p.Ala40=)
| ClinVar |
13 | g.20189462T>G | CA241523 | GJB2 | c.120A>C (p.Ala40=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189462T= | CA2077140299 | GJB2 | c.120A= (p.Ala40=)
| |
13 | g.20189463G>A | CA387461910 | GJB2 | c.119C>T (p.Ala40Val)
| |
13 | g.20189463G>C | CA274135 | GJB2 | c.119C>G (p.Ala40Gly)
| ClinVar dbSNP |
13 | g.20189463G= | CA2077140332 | GJB2 | c.119C= (p.Ala40=)
| |
13 | g.20189463G>T | CA261635 | GJB2 | c.119C>A (p.Ala40Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189464C>A | CA387461913 | GJB2 | c.118G>T (p.Ala40Ser)
| |
13 | g.20189464C= | CA2077140336 | GJB2 | c.118G= (p.Ala40=)
| |
13 | g.20189464C>G | CA387461916 | GJB2 | c.118G>C (p.Ala40Pro)
| |
13 | g.20189464C>T | CA6904316 | GJB2 | c.118G>A (p.Ala40Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189465A>C | CA483153892 | GJB2 | c.117T>G (p.Ala39=)
| |
13 | g.20189465A>G | CA483153893 | GJB2 | c.117T>C (p.Ala39=)
| |
13 | g.20189465A>T | CA483153894 | GJB2 | c.117T>A (p.Ala39=)
| |
13 | g.20189466G>A | CA387461917 | GJB2 | c.116C>T (p.Ala39Val)
| |
13 | g.20189466G>C | CA387461918 | GJB2 | c.116C>G (p.Ala39Gly)
| |
13 | g.20189466G>T | CA387461920 | GJB2 | c.116C>A (p.Ala39Asp)
| |
13 | g.20189467C>A | CA387461922 | GJB2 | c.115G>T (p.Ala39Ser)
| |
13 | g.20189467C>G | CA387461924 | GJB2 | c.115G>C (p.Ala39Pro)
| |
13 | g.20189467C>T | CA387461925 | GJB2 | c.115G>A (p.Ala39Thr)
| |
13 | g.20189468C>A | CA483153896 | GJB2 | c.114G>T (p.Val38=)
| |
13 | g.20189468C>G | CA483153897 | GJB2 | c.114G>C (p.Val38=)
| |
13 | g.20189468C>T | CA483153898 | GJB2 | c.114G>A (p.Val38=)
| ClinVar |
13 | g.20189468_20189471delinsCACA | CA2077140339 | GJB2 | c.111_114delinsTGTG (p.Val37=)
| |
13 | g.20189469A>C | CA387461927 | GJB2 | c.113T>G (p.Val38Gly)
| |
13 | g.20189469A>G | CA387461929 | GJB2 | c.113T>C (p.Val38Ala)
| |
13 | g.20189469A>T | CA387461931 | GJB2 | c.113T>A (p.Val38Glu)
| |
13 | g.20189471_20189473del | CA1139663003 | GJB2 | c.111_113del (p.Val38del)
| ClinVar dbSNP |
13 | g.20189470C>A | CA387461933 | GJB2 | c.112G>T (p.Val38Leu)
| |
13 | g.20189470C>G | CA387461934 | GJB2 | c.112G>C (p.Val38Leu)
| gnomAD v4 |
13 | g.20189470C>T | CA387461936 | GJB2 | c.112G>A (p.Val38Met)
| |
13 | g.20189471A>C | CA483153902 | GJB2 | c.111T>G (p.Val37=)
| |
13 | g.20189471A>G | CA483153901 | GJB2 | c.111T>C (p.Val37=)
| |
13 | g.20189471A>T | CA483153899 | GJB2 | c.111T>A (p.Val37=)
| |
13 | g.20189472A= | CA2077140347 | GJB2 | c.110T= (p.Val37=)
| |
13 | g.20189472A>C | CA387461940 | GJB2 | c.110T>G (p.Val37Gly)
| |
13 | g.20189472A>G | CA6904317 | GJB2 | c.110T>C (p.Val37Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189472A>T | CA387461938 | GJB2 | c.110T>A (p.Val37Asp)
| |
13 | g.20189473C>A | CA273605 | GJB2 | c.109G>T (p.Val37Phe)
| ClinVar dbSNP |
13 | g.20189473C= | CA2077140354 | GJB2 | c.109G= (p.Val37=)
| |
13 | g.20189473C>G | CA387461942 | GJB2 | c.109G>C (p.Val37Leu)
| |
13 | g.20189473C>T | CA172210 | GJB2 | c.109G>A (p.Val37Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189473dup | CA2695217725 | GJB2 | c.109dup (p.Val37GlyfsTer11)
| |
13 | g.20189474G>A | CA6904318 | GJB2 | c.108C>T (p.Leu36=)
| ClinVar dbSNP ExAC gnomAD v4 |
13 | g.20189474G>C | CA246460895 | GJB2 | c.108C>G (p.Leu36=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189474G= | CA2077140363 | GJB2 | c.108C= (p.Leu36=)
| |
13 | g.20189474G>T | CA483153905 | GJB2 | c.108C>A (p.Leu36=)
| gnomAD v4 |
13 | g.20189475A= | CA2077140370 | GJB2 | c.107T= (p.Leu36=)
| |
13 | g.20189475A>C | CA387461945 | GJB2 | c.107T>G (p.Leu36Arg)
| |
13 | g.20189475A>G | CA172208 | GJB2 | c.107T>C (p.Leu36Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189475A>T | CA387461947 | GJB2 | c.107T>A (p.Leu36His)
| |
13 | g.20189476G>A | CA387461950 | GJB2 | c.106C>T (p.Leu36Phe)
| COSMIC |
13 | g.20189476G>C | CA387461952 | GJB2 | c.106C>G (p.Leu36Val)
| |
13 | g.20189476G>T | CA387461953 | GJB2 | c.106C>A (p.Leu36Ile)
| |
13 | g.20189476_20189505dup | CA222248 | GJB2 | c.77_106dup (p.Ile35_Leu36insProValLeuPheIlePheArgIleMetIle)
| ClinVar dbSNP |
13 | g.20189477G>A | CA483153910 | GJB2 | c.105C>T (p.Ile35=)
| |
13 | g.20189477G>C | CA387461955 | GJB2 | c.105C>G (p.Ile35Met)
| |
13 | g.20189477G>T | CA483153911 | GJB2 | c.105C>A (p.Ile35=)
| |
13 | g.20189477_20189483delinsGATCATA | CA2077140383 | GJB2 | c.99_105delinsTATGATC (p.Ile33=)
| |
13 | g.20189478A= | CA2077140387 | GJB2 | c.104T= (p.Ile35=)
| |
13 | g.20189478A>C | CA6904320 | GJB2 | c.104T>G (p.Ile35Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189478A>G | CA387461957 | GJB2 | c.104T>C (p.Ile35Thr)
| |
13 | g.20189478A>T | CA387461959 | GJB2 | c.104T>A (p.Ile35Asn)
| |
13 | g.20189480_20189485del | CA6904319 | GJB2 | c.99_104del (p.Met34_Ile35del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189479T>A | CA387461961 | GJB2 | c.103A>T (p.Ile35Phe)
| |
13 | g.20189479T>C | CA387461963 | GJB2 | c.103A>G (p.Ile35Val)
| |
13 | g.20189479T>G | CA387461964 | GJB2 | c.103A>C (p.Ile35Leu)
| |
13 | g.20189480C>A | CA387461966 | GJB2 | c.102G>T (p.Met34Ile)
| |
13 | g.20189480C>G | CA387461968 | GJB2 | c.102G>C (p.Met34Ile)
| |
13 | g.20189480C>T | CA387461969 | GJB2 | c.102G>A (p.Met34Ile)
| |
13 | g.20189481A= | CA2077140396 | GJB2 | c.101T= (p.Met34=)
| |
13 | g.20189481A>C | CA261633 | GJB2 | c.101T>G (p.Met34Arg)
| ClinVar dbSNP |
13 | g.20189481A>G | CA172206 | GJB2 | c.101T>C (p.Met34Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189481A>T | CA387461971 | GJB2 | c.101T>A (p.Met34Lys)
| |
13 | g.20189481_20189482delinsGG | CA2837994565 | GJB2 | c.100_101delinsCC (p.Met34Pro)
| |
13 | g.20189482T>A | CA6904321 | GJB2 | c.100A>T (p.Met34Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189482T>C | CA387461975 | GJB2 | c.100A>G (p.Met34Val)
| |
13 | g.20189482T>G | CA387461977 | GJB2 | c.100A>C (p.Met34Leu)
| |
13 | g.20189482T= | CA2077140404 | GJB2 | c.100A= (p.Met34=)
| |
13 | g.20189482_20189483delinsTA | CA2077140405 | GJB2 | c.99_100delinsTA (p.Ile33=)
| |
13 | g.20189483A>C | CA387461978 | GJB2 | c.99T>G (p.Ile33Met)
| |
13 | g.20189483A>G | CA483153918 | GJB2 | c.99T>C (p.Ile33=)
| |
13 | g.20189483A>T | CA483153919 | GJB2 | c.99T>A (p.Ile33=)
| gnomAD v4 |
13 | g.20189484del | CA608984158 | GJB2 | c.99del (p.Met34Ter)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189484A= | CA2077140410 | GJB2 | c.98T= (p.Ile33=)
| |
13 | g.20189484A>C | CA387461981 | GJB2 | c.98T>G (p.Ile33Ser)
| |
13 | g.20189484A>G | CA246460935 | GJB2 | c.98T>C (p.Ile33Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189484A>T | CA387461986 | GJB2 | c.98T>A (p.Ile33Asn)
| |
13 | g.20189485T>A | CA387461988 | GJB2 | c.97A>T (p.Ile33Phe)
| |
13 | g.20189485T>C | CA387461989 | GJB2 | c.97A>G (p.Ile33Val)
| |
13 | g.20189485T>G | CA387461991 | GJB2 | c.97A>C (p.Ile33Leu)
| |
13 | g.20189486G>A | CA483153920 | GJB2 | c.96C>T (p.Arg32=)
| |
13 | g.20189486G>C | CA483153921 | GJB2 | c.96C>G (p.Arg32=)
| |
13 | g.20189486G>T | CA483153922 | GJB2 | c.96C>A (p.Arg32=)
| |
13 | g.20189487C>A | CA6904322 | GJB2 | c.95G>T (p.Arg32Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189487C= | CA2077140417 | GJB2 | c.95G= (p.Arg32=)
| |
13 | g.20189487C>G | CA387461993 | GJB2 | c.95G>C (p.Arg32Pro)
| dbSNP |
13 | g.20189487C>T | CA261654 | GJB2 | c.95G>A (p.Arg32His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189488G>A | CA273921 | GJB2 | c.94C>T (p.Arg32Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189488G>C | CA387461994 | GJB2 | c.94C>G (p.Arg32Gly)
| |
13 | g.20189488G= | CA2077140422 | GJB2 | c.94C= (p.Arg32=)
| |
13 | g.20189488G>T | CA387461995 | GJB2 | c.94C>A (p.Arg32Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189488_20189489delinsGA | CA2077140423 | GJB2 | c.93_94delinsTC (p.Phe31=)
| |
13 | g.20189489A>C | CA387461996 | GJB2 | c.93T>G (p.Phe31Leu)
| |
13 | g.20189489A>G | CA483153923 | GJB2 | c.93T>C (p.Phe31=)
| |
13 | g.20189489A>T | CA387461999 | GJB2 | c.93T>A (p.Phe31Leu)
| |
13 | g.20189493del | CA2077140427 | GJB2 | c.93del (p.Arg32AlafsTer3)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189490A>C | CA387462000 | GJB2 | c.92T>G (p.Phe31Cys)
| |
13 | g.20189490A>G | CA387462008 | GJB2 | c.92T>C (p.Phe31Ser)
| |
13 | g.20189490A>T | CA387462002 | GJB2 | c.92T>A (p.Phe31Tyr)
| |
13 | g.20189491A>C | CA387462010 | GJB2 | c.91T>G (p.Phe31Val)
| |
13 | g.20189491A>G | CA387462012 | GJB2 | c.91T>C (p.Phe31Leu)
| |
13 | g.20189491A>T | CA387462013 | GJB2 | c.91T>A (p.Phe31Ile)
| |
13 | g.20189492A>C | CA387462014 | GJB2 | c.90T>G (p.Ile30Met)
| |
13 | g.20189492A>G | CA483153927 | GJB2 | c.90T>C (p.Ile30=)
| |
13 | g.20189492A>T | CA483153928 | GJB2 | c.90T>A (p.Ile30=)
| |
13 | g.20189493A>C | CA387462015 | GJB2 | c.89T>G (p.Ile30Ser)
| |
13 | g.20189493A>G | CA387462017 | GJB2 | c.89T>C (p.Ile30Thr)
| ClinVar |
13 | g.20189493A>T | CA387462019 | GJB2 | c.89T>A (p.Ile30Asn)
| |
13 | g.20189494del | CA2695217726 | GJB2 | c.88del (p.Ile30PhefsTer5)
| |
13 | g.20189494T>A | CA387462020 | GJB2 | c.88A>T (p.Ile30Phe)
| ClinVar |
13 | g.20189494T>C | CA6904323 | GJB2 | c.88A>G (p.Ile30Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189494T>G | CA387462022 | GJB2 | c.88A>C (p.Ile30Leu)
| |
13 | g.20189494T= | CA2077140434 | GJB2 | c.88A= (p.Ile30=)
| |
13 | g.20189494_20189497delinsTGAA | CA2077140436 | GJB2 | c.85_88delinsTTCA (p.Phe29=)
| |
13 | g.20189495G>A | CA483153930 | GJB2 | c.87C>T (p.Phe29=)
| |
13 | g.20189495G>C | CA387462024 | GJB2 | c.87C>G (p.Phe29Leu)
| |
13 | g.20189495G>T | CA387462026 | GJB2 | c.87C>A (p.Phe29Leu)
| |
13 | g.20189497_20189499del | CA658653811 | GJB2 | c.85_87del (p.Phe29del)
| ClinVar dbSNP |
13 | g.20189496A>C | CA387462031 | GJB2 | c.86T>G (p.Phe29Cys)
| |
13 | g.20189496A>G | CA387462030 | GJB2 | c.86T>C (p.Phe29Ser)
| |
13 | g.20189496A>T | CA387462029 | GJB2 | c.86T>A (p.Phe29Tyr)
| |
13 | g.20189497A>C | CA387462033 | GJB2 | c.85T>G (p.Phe29Val)
| |
13 | g.20189497A>G | CA387462034 | GJB2 | c.85T>C (p.Phe29Leu)
| |
13 | g.20189497A>T | CA387462036 | GJB2 | c.85T>A (p.Phe29Ile)
| |
13 | g.20189498G>A | CA483153931 | GJB2 | c.84C>T (p.Leu28=)
| |
13 | g.20189498G>C | CA483153933 | GJB2 | c.84C>G (p.Leu28=)
| |
13 | g.20189498G>T | CA483153935 | GJB2 | c.84C>A (p.Leu28=)
| |
13 | g.20189500_20189502del | CA2697551668 | GJB2 | c.82_84del (p.Leu28del)
| ClinVar |
13 | g.20189499A>C | CA387462037 | GJB2 | c.83T>G (p.Leu28Arg)
| |
13 | g.20189499A>G | CA387462038 | GJB2 | c.83T>C (p.Leu28Pro)
| |
13 | g.20189499A>T | CA387462039 | GJB2 | c.83T>A (p.Leu28His)
| |
13 | g.20189500G>A | CA387462041 | GJB2 | c.82C>T (p.Leu28Phe)
| |
13 | g.20189500G>C | CA387462043 | GJB2 | c.82C>G (p.Leu28Val)
| ClinVar |
13 | g.20189500G>T | CA387462045 | GJB2 | c.82C>A (p.Leu28Ile)
| |
13 | g.20189500_20189503delinsTCT | CA2499221955 | GJB2 | c.79_82delinsAGA (p.Val27ArgfsTer8)
| ClinVar dbSNP |
13 | g.20189501G>A | CA483153937 | GJB2 | c.81C>T (p.Val27=)
| |
13 | g.20189501G>C | CA483153938 | GJB2 | c.81C>G (p.Val27=)
| gnomAD v4 |
13 | g.20189501G>T | CA483153939 | GJB2 | c.81C>A (p.Val27=)
| |
13 | g.20189502A>C | CA387462047 | GJB2 | c.80T>G (p.Val27Gly)
| |
13 | g.20189502A>G | CA387462048 | GJB2 | c.80T>C (p.Val27Ala)
| |
13 | g.20189502A>T | CA387462050 | GJB2 | c.80T>A (p.Val27Asp)
| |
13 | g.20189503C>A | CA387462051 | GJB2 | c.79G>T (p.Val27Phe)
| |
13 | g.20189503C= | CA2077140448 | GJB2 | c.79G= (p.Val27=)
| |
13 | g.20189503C>G | CA387462053 | GJB2 | c.79G>C (p.Val27Leu)
| |
13 | g.20189503C>T | CA134997 | GJB2 | c.79G>A (p.Val27Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189504G>A | CA6904324 | GJB2 | c.78C>T (p.Thr26=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189504G>C | CA483153940 | GJB2 | c.78C>G (p.Thr26=)
| |
13 | g.20189504G= | CA2077140457 | GJB2 | c.78C= (p.Thr26=)
| |
13 | g.20189504G>T | CA483153941 | GJB2 | c.78C>A (p.Thr26=)
| |
13 | g.20189505G>A | CA387462056 | GJB2 | c.77C>T (p.Thr26Ile)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189505G>C | CA387462055 | GJB2 | c.77C>G (p.Thr26Ser)
| |
13 | g.20189505G= | CA2077140461 | GJB2 | c.77C= (p.Thr26=)
| |
13 | g.20189505G>T | CA387462057 | GJB2 | c.77C>A (p.Thr26Asn)
| |
13 | g.20189506del | CA2573149179 | GJB2 | c.76del (p.Thr26ProfsTer9)
| ClinVar dbSNP |
13 | g.20189506T>A | CA387462059 | GJB2 | c.76A>T (p.Thr26Ser)
| |
13 | g.20189506T>C | CA387462061 | GJB2 | c.76A>G (p.Thr26Ala)
| dbSNP gnomAD v4 |
13 | g.20189506T>G | CA387462063 | GJB2 | c.76A>C (p.Thr26Pro)
| |
13 | g.20189507G>A | CA483154018 | GJB2 | c.75C>T (p.Leu25=)
| |
13 | g.20189507G>C | CA483154019 | GJB2 | c.75C>G (p.Leu25=)
| |
13 | g.20189507G>T | CA483154020 | GJB2 | c.75C>A (p.Leu25=)
| |
13 | g.20189508A>C | CA387462065 | GJB2 | c.74T>G (p.Leu25Arg)
| |
13 | g.20189508A>G | CA387462066 | GJB2 | c.74T>C (p.Leu25Pro)
| |
13 | g.20189508A>T | CA387462068 | GJB2 | c.74T>A (p.Leu25His)
| |
13 | g.20189509G>A | CA387462069 | GJB2 | c.73C>T (p.Leu25Phe)
| ClinVar dbSNP |
13 | g.20189509G>C | CA387462070 | GJB2 | c.73C>G (p.Leu25Val)
| |
13 | g.20189509G= | CA2077140465 | GJB2 | c.73C= (p.Leu25=)
| |
13 | g.20189509G>T | CA387462072 | GJB2 | c.73C>A (p.Leu25Ile)
| |
13 | g.20189510C>A | CA387462073 | GJB2 | c.72G>T (p.Trp24Cys)
| |
13 | g.20189510C= | CA2077140470 | GJB2 | c.72G= (p.Trp24=)
| |
13 | g.20189510C>G | CA6904325 | GJB2 | c.72G>C (p.Trp24Cys)
| dbSNP ExAC |
13 | g.20189510C>T | CA387462076 | GJB2 | c.72G>A (p.Trp24Ter)
| ClinVar dbSNP |
13 | g.20189511C>A | CA387462081 | GJB2 | c.71G>T (p.Trp24Leu)
| |
13 | g.20189511C= | CA2077140478 | GJB2 | c.71G= (p.Trp24=)
| |
13 | g.20189511C>G | CA387462079 | GJB2 | c.71G>C (p.Trp24Ser)
| gnomAD v4 |
13 | g.20189511C>T | CA172240 | GJB2 | c.71G>A (p.Trp24Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189512A>C | CA387462083 | GJB2 | c.70T>G (p.Trp24Gly)
| |
13 | g.20189512A>G | CA387462085 | GJB2 | c.70T>C (p.Trp24Arg)
| |
13 | g.20189512A>T | CA387462087 | GJB2 | c.70T>A (p.Trp24Arg)
| |
13 | g.20189513G>A | CA483154022 | GJB2 | c.69C>T (p.Ile23=)
| ClinVar |
13 | g.20189513G>C | CA387462089 | GJB2 | c.69C>G (p.Ile23Met)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189513G= | CA2077140486 | GJB2 | c.69C= (p.Ile23=)
| |
13 | g.20189513G>T | CA483154021 | GJB2 | c.69C>A (p.Ile23=)
| |
13 | g.20189513_20189551delinsGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCC | CA2077140484 | GJB2 | c.31_69delinsGGGGGTGTGAACAAACACTCCACCAGCATTGGAAAGATC (p.Gly11=)
| |
13 | g.20189514A>C | CA387462091 | GJB2 | c.68T>G (p.Ile23Ser)
| |
13 | g.20189514A>G | CA387462092 | GJB2 | c.68T>C (p.Ile23Thr)
| |
13 | g.20189514A>T | CA387462093 | GJB2 | c.68T>A (p.Ile23Asn)
| |
13 | g.20189514_20189551del | CA261644 | GJB2 | c.31_68del (p.Gly11LeufsTer24)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189515T>A | CA387462096 | GJB2 | c.67A>T (p.Ile23Phe)
| |
13 | g.20189515T>C | CA387462098 | GJB2 | c.67A>G (p.Ile23Val)
| |
13 | g.20189515T>G | CA387462099 | GJB2 | c.67A>C (p.Ile23Leu)
| |
13 | g.20189516C>A | CA10584002 | GJB2 | c.66G>T (p.Lys22Asn)
| ClinVar dbSNP |
13 | g.20189516C= | CA2077140498 | GJB2 | c.66G= (p.Lys22=)
| |
13 | g.20189516C>G | CA387462101 | GJB2 | c.66G>C (p.Lys22Asn)
| |
13 | g.20189516C>T | CA483154023 | GJB2 | c.66G>A (p.Lys22=)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189517T>A | CA387462104 | GJB2 | c.65A>T (p.Lys22Met)
| |
13 | g.20189517T>C | CA387462105 | GJB2 | c.65A>G (p.Lys22Arg)
| |
13 | g.20189517T>G | CA387462107 | GJB2 | c.65A>C (p.Lys22Thr)
| |
13 | g.20189519del | CA2575364825 | GJB2 | c.65del (p.Lys22ArgfsTer13)
| |
13 | g.20189518T>A | CA387462113 | GJB2 | c.64A>T (p.Lys22Ter)
| |
13 | g.20189518T>C | CA387462115 | GJB2 | c.64A>G (p.Lys22Glu)
| |
13 | g.20189518T>G | CA387462117 | GJB2 | c.64A>C (p.Lys22Gln)
| |
13 | g.20189519T>A | CA483154024 | GJB2 | c.63A>T (p.Gly21=)
| |
13 | g.20189519T>C | CA483154026 | GJB2 | c.63A>G (p.Gly21=)
| |
13 | g.20189519T>G | CA483154025 | GJB2 | c.63A>C (p.Gly21=)
| |
13 | g.20189520_20189530del | CA2499221956 | GJB2 | c.53_63del (p.Thr18LysfsTer26)
| ClinVar dbSNP |
13 | g.20189519_20189531delinsTCCAATGCTGGTG | CA2077140504 | GJB2 | c.51_63delinsCACCAGCATTGGA (p.Ser17=)
| |
13 | g.20189520C>A | CA387462123 | GJB2 | c.62G>T (p.Gly21Val)
| |
13 | g.20189520C= | CA2077140512 | GJB2 | c.62G= (p.Gly21=)
| |
13 | g.20189520C>G | CA387462119 | GJB2 | c.62G>C (p.Gly21Ala)
| |
13 | g.20189520C>T | CA387462122 | GJB2 | c.62G>A (p.Gly21Glu)
| dbSNP COSMIC |
13 | g.20189520_20189523del | CA2622252307 | GJB2 | c.59_62del (p.Ile20LysfsTer14)
| gnomAD v4 |
13 | g.20189520_20189531delinsT | CA10575530 | GJB2 | c.51_62delinsA (p.Thr18LysfsTer26)
| ClinVar dbSNP |
13 | g.20189521C>A | CA387462125 | GJB2 | c.61G>T (p.Gly21Ter)
| |
13 | g.20189521C>G | CA387462127 | GJB2 | c.61G>C (p.Gly21Arg)
| |
13 | g.20189521C>T | CA387462128 | GJB2 | c.61G>A (p.Gly21Arg)
| dbSNP |
13 | g.20189522A= | CA2077140514 | GJB2 | c.60T= (p.Ile20=)
| |
13 | g.20189522A>C | CA6904326 | GJB2 | c.60T>G (p.Ile20Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189522A>G | CA483154027 | GJB2 | c.60T>C (p.Ile20=)
| |
13 | g.20189522A>T | CA483154028 | GJB2 | c.60T>A (p.Ile20=)
| |
13 | g.20189523A= | CA2077140519 | GJB2 | c.59T= (p.Ile20=)
| |
13 | g.20189523A>C | CA387462131 | GJB2 | c.59T>G (p.Ile20Ser)
| |
13 | g.20189523A>G | CA16041595 | GJB2 | c.59T>C (p.Ile20Thr)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189523A>T | CA387462132 | GJB2 | c.59T>A (p.Ile20Asn)
| |
13 | g.20189524T>A | CA387462133 | GJB2 | c.58A>T (p.Ile20Phe)
| |
13 | g.20189524T>C | CA387462135 | GJB2 | c.58A>G (p.Ile20Val)
| |
13 | g.20189524T>G | CA387462136 | GJB2 | c.58A>C (p.Ile20Leu)
| |
13 | g.20189525G>A | CA483154029 | GJB2 | c.57C>T (p.Ser19=)
| dbSNP |
13 | g.20189525G>C | CA387462138 | GJB2 | c.57C>G (p.Ser19Arg)
| |
13 | g.20189525G= | CA2077140521 | GJB2 | c.57C= (p.Ser19=)
| |
13 | g.20189525G>T | CA387462140 | GJB2 | c.57C>A (p.Ser19Arg)
| |
13 | g.20189525_20189526delinsAA | CA2825002101 | GJB2 | c.56_57delinsTT (p.Ser19Ile)
| ClinVar |
13 | g.20189526_20189532del | CA2622252308 | GJB2 | c.51_57del (p.Thr18LeufsTer15)
| gnomAD v4 |
13 | g.20189526C>A | CA6904327 | GJB2 | c.56G>T (p.Ser19Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189526C= | CA2077140524 | GJB2 | c.56G= (p.Ser19=)
| |
13 | g.20189526C>G | CA342005 | GJB2 | c.56G>C (p.Ser19Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
13 | g.20189526C>T | CA387462144 | GJB2 | c.56G>A (p.Ser19Asn)
| |
13 | g.20189527T>A | CA387462145 | GJB2 | c.55A>T (p.Ser19Cys)
| |
13 | g.20189527T>C | CA387462146 | GJB2 | c.55A>G (p.Ser19Gly)
| |
13 | g.20189527T>G | CA387462147 | GJB2 | c.55A>C (p.Ser19Arg)
| |
13 | g.20189528G>A | CA483154032 | GJB2 | c.54C>T (p.Thr18=)
| |
13 | g.20189528G>C | CA483154031 | GJB2 | c.54C>G (p.Thr18=)
| gnomAD v4 |
13 | g.20189528G>T | CA483154030 | GJB2 | c.54C>A (p.Thr18=)
| |
13 | g.20189529G>A | CA387462151 | GJB2 | c.53C>T (p.Thr18Ile)
| |
13 | g.20189529G>C | CA387462150 | GJB2 | c.53C>G (p.Thr18Ser)
| ClinVar dbSNP |
13 | g.20189529G= | CA2077140530 | GJB2 | c.53C= (p.Thr18=)
| |
13 | g.20189529G>T | CA387462149 | GJB2 | c.53C>A (p.Thr18Asn)
| |
13 | g.20189530T>A | CA387462153 | GJB2 | c.52A>T (p.Thr18Ser)
| |
13 | g.20189530T>C | CA387462155 | GJB2 | c.52A>G (p.Thr18Ala)
| |
13 | g.20189530T>G | CA387462157 | GJB2 | c.52A>C (p.Thr18Pro)
| |
13 | g.20189531G>A | CA483154033 | GJB2 | c.51C>T (p.Ser17=)
| ClinVar dbSNP |
13 | g.20189531G>C | CA483154034 | GJB2 | c.51C>G (p.Ser17=)
| |
13 | g.20189531G= | CA2077140533 | GJB2 | c.51C= (p.Ser17=)
| |
13 | g.20189531G>T | CA483154035 | GJB2 | c.51C>A (p.Ser17=)
| ClinVar dbSNP |
13 | g.20189531_20189533delinsGGA | CA2077140535 | GJB2 | c.49_51delinsTCC (p.Ser17=)
| |
13 | g.20189532_20189534del | CA912980100 | GJB2 | c.49_51del (p.Ser17del)
| |
13 | g.20189532G>A | CA127029 | GJB2 | c.50C>T (p.Ser17Phe)
| ClinVar dbSNP |
13 | g.20189532G>C | CA185218 | GJB2 | c.50C>G (p.Ser17Cys)
| ClinVar dbSNP |
13 | g.20189532G= | CA2077140543 | GJB2 | c.50C= (p.Ser17=)
| |
13 | g.20189532G>T | CA387462161 | GJB2 | c.50C>A (p.Ser17Tyr)
| |
13 | g.20189533_20189534del | CA658823500 | GJB2 | c.49_50del (p.Ser17HisfsTer30)
| ClinVar dbSNP |
13 | g.20189533_20189536del | CA2622252310 | GJB2 | c.47_50del (p.His16ProfsTer18)
| gnomAD v4 |
13 | g.20189533A>C | CA387462167 | GJB2 | c.49T>G (p.Ser17Ala)
| |
13 | g.20189533A>G | CA387462163 | GJB2 | c.49T>C (p.Ser17Pro)
| |
13 | g.20189533A>T | CA387462165 | GJB2 | c.49T>A (p.Ser17Thr)
| |
13 | g.20189534G>A | CA483154036 | GJB2 | c.48C>T (p.His16=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189534G>C | CA387462169 | GJB2 | c.48C>G (p.His16Gln)
| |
13 | g.20189534G= | CA2077140549 | GJB2 | c.48C= (p.His16=)
| |
13 | g.20189534G>T | CA387462170 | GJB2 | c.48C>A (p.His16Gln)
| |
13 | g.20189535T>A | CA387462172 | GJB2 | c.47A>T (p.His16Leu)
| |
13 | g.20189535T>C | CA387462174 | GJB2 | c.47A>G (p.His16Arg)
| |
13 | g.20189535T>G | CA387462175 | GJB2 | c.47A>C (p.His16Pro)
| gnomAD v4 |
13 | g.20189536G>A | CA6904328 | GJB2 | c.46C>T (p.His16Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189536G>C | CA387462176 | GJB2 | c.46C>G (p.His16Asp)
| |
13 | g.20189536G= | CA2077140554 | GJB2 | c.46C= (p.His16=)
| |
13 | g.20189536G>T | CA387462178 | GJB2 | c.46C>A (p.His16Asn)
| COSMIC |
13 | g.20189536_20189550delinsGTTTGTTCACACCCC | CA2077140555 | GJB2 | c.32_46delinsGGGGTGTGAACAAAC (p.Gly11=)
| |
13 | g.20189537T>A | CA387462181 | GJB2 | c.45A>T (p.Lys15Asn)
| |
13 | g.20189537T>C | CA483154037 | GJB2 | c.45A>G (p.Lys15=)
| dbSNP |
13 | g.20189537T>G | CA387462182 | GJB2 | c.45A>C (p.Lys15Asn)
| |
13 | g.20189537T= | CA2077140561 | GJB2 | c.45A= (p.Lys15=)
| |
13 | g.20189537_20189550del | CA608984146 | GJB2 | c.32_45del (p.Gly11AlafsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189538T>A | CA387462185 | GJB2 | c.44A>T (p.Lys15Ile)
| |
13 | g.20189538T>C | CA387462187 | GJB2 | c.44A>G (p.Lys15Arg)
| |
13 | g.20189538T>G | CA261649 | GJB2 | c.44A>C (p.Lys15Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189538T= | CA2077109877 | GJB2 | c.44A= (p.Lys15=)
| |
13 | g.20189538_20189551del | CA2695217727 | GJB2 | c.31_44del (p.Gly11ThrfsTer?)
| |
13 | g.20189539T>A | CA387462189 | GJB2 | c.43A>T (p.Lys15Ter)
| |
13 | g.20189539T>C | CA387462191 | GJB2 | c.43A>G (p.Lys15Glu)
| |
13 | g.20189539T>G | CA387462192 | GJB2 | c.43A>C (p.Lys15Gln)
| |
13 | g.20189540G>A | CA483154038 | GJB2 | c.42C>T (p.Asn14=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189540G>C | CA387462194 | GJB2 | c.42C>G (p.Asn14Lys)
| |
13 | g.20189540G= | CA2077109907 | GJB2 | c.42C= (p.Asn14=)
| |
13 | g.20189540G>T | CA387462196 | GJB2 | c.42C>A (p.Asn14Lys)
| |
13 | g.20189541T>A | CA387462198 | GJB2 | c.41A>T (p.Asn14Ile)
| |
13 | g.20189541T>C | CA387462199 | GJB2 | c.41A>G (p.Asn14Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189541T>G | CA387462201 | GJB2 | c.41A>C (p.Asn14Thr)
| |
13 | g.20189542dup | CA696363988 | GJB2 | c.41dup (p.Asn14LysfsTer?)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |