| 13 | g.20222946C>A | CA387467899 | GJB6 | c.535G>T (p.Asp179Tyr)
| |
| 13 | g.20222946C= | CA2077159651 | GJB6 | c.535G= (p.Asp179=)
| |
| 13 | g.20222946C>G | CA246490673 | GJB6 | c.535G>C (p.Asp179His)
| dbSNP |
| 13 | g.20222946C>T | CA387467900 | GJB6 | c.535G>A (p.Asp179Asn)
| |
| 13 | g.20222947A>C | CA483154359 | GJB6 | c.534T>G (p.Val178=)
| |
| 13 | g.20222947A>G | CA483154360 | GJB6 | c.534T>C (p.Val178=)
| |
| 13 | g.20222947A>T | CA483154361 | GJB6 | c.534T>A (p.Val178=)
| |
| 13 | g.20222948A>C | CA387467901 | GJB6 | c.533T>G (p.Val178Gly)
| |
| 13 | g.20222948A>G | CA387467902 | GJB6 | c.533T>C (p.Val178Ala)
| dbSNP gnomAD v4 |
| 13 | g.20222948A>T | CA387467903 | GJB6 | c.533T>A (p.Val178Asp)
| |
| 13 | g.20222949C>A | CA387467905 | GJB6 | c.532G>T (p.Val178Phe)
| |
| 13 | g.20222949C>G | CA387467906 | GJB6 | c.532G>C (p.Val178Leu)
| |
| 13 | g.20222949C>T | CA387467904 | GJB6 | c.532G>A (p.Val178Ile)
| |
| 13 | g.20222950A>C | CA483154362 | GJB6 | c.531T>G (p.Leu177=)
| |
| 13 | g.20222950A>G | CA483154363 | GJB6 | c.531T>C (p.Leu177=)
| gnomAD v4 |
| 13 | g.20222950A>T | CA483154364 | GJB6 | c.531T>A (p.Leu177=)
| |
| 13 | g.20222951A>C | CA387467907 | GJB6 | c.530T>G (p.Leu177Arg)
| |
| 13 | g.20222951A>G | CA387467908 | GJB6 | c.530T>C (p.Leu177Pro)
| |
| 13 | g.20222951A>T | CA387467909 | GJB6 | c.530T>A (p.Leu177His)
| |
| 13 | g.20222952G>A | CA387467910 | GJB6 | c.529C>T (p.Leu177Phe)
| gnomAD v4 |
| 13 | g.20222952G>C | CA6904422 | GJB6 | c.529C>G (p.Leu177Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222952G= | CA2077159654 | GJB6 | c.529C= (p.Leu177=)
| |
| 13 | g.20222952G>T | CA387467911 | GJB6 | c.529C>A (p.Leu177Ile)
| |
| 13 | g.20222953G>A | CA483154366 | GJB6 | c.528C>T (p.Asn176=)
| gnomAD v4 |
| 13 | g.20222953G>C | CA387467912 | GJB6 | c.528C>G (p.Asn176Lys)
| |
| 13 | g.20222953G>T | CA387467913 | GJB6 | c.528C>A (p.Asn176Lys)
| |
| 13 | g.20222954T>A | CA387467914 | GJB6 | c.527A>T (p.Asn176Ile)
| |
| 13 | g.20222954T>C | CA246490678 | GJB6 | c.527A>G (p.Asn176Ser)
| dbSNP gnomAD v4 |
| 13 | g.20222954T>G | CA387467915 | GJB6 | c.527A>C (p.Asn176Thr)
| |
| 13 | g.20222954T= | CA2077159657 | GJB6 | c.527A= (p.Asn176=)
| |
| 13 | g.20222955T>A | CA387467917 | GJB6 | c.526A>T (p.Asn176Tyr)
| |
| 13 | g.20222955T>C | CA387467918 | GJB6 | c.526A>G (p.Asn176Asp)
| |
| 13 | g.20222955T>G | CA387467916 | GJB6 | c.526A>C (p.Asn176His)
| |
| 13 | g.20222956G>A | CA483154372 | GJB6 | c.525C>T (p.Pro175=)
| |
| 13 | g.20222956G>C | CA483154373 | GJB6 | c.525C>G (p.Pro175=)
| |
| 13 | g.20222956G>T | CA483154374 | GJB6 | c.525C>A (p.Pro175=)
| |
| 13 | g.20222957G>A | CA387467919 | GJB6 | c.524C>T (p.Pro175Leu)
| |
| 13 | g.20222957G>C | CA387467920 | GJB6 | c.524C>G (p.Pro175Arg)
| |
| 13 | g.20222957G>T | CA387467921 | GJB6 | c.524C>A (p.Pro175His)
| |
| 13 | g.20222958G>A | CA387467922 | GJB6 | c.523C>T (p.Pro175Ser)
| |
| 13 | g.20222958G>C | CA387467923 | GJB6 | c.523C>G (p.Pro175Ala)
| |
| 13 | g.20222958G>T | CA387467924 | GJB6 | c.523C>A (p.Pro175Thr)
| |
| 13 | g.20222959G>A | CA483154377 | GJB6 | c.522C>T (p.Cys174=)
| |
| 13 | g.20222959G>C | CA387467925 | GJB6 | c.522C>G (p.Cys174Trp)
| |
| 13 | g.20222959G>T | CA387467926 | GJB6 | c.522C>A (p.Cys174Ter)
| |
| 13 | g.20222960C>A | CA387467927 | GJB6 | c.521G>T (p.Cys174Phe)
| |
| 13 | g.20222960C>G | CA387467928 | GJB6 | c.521G>C (p.Cys174Ser)
| |
| 13 | g.20222960C>T | CA387467929 | GJB6 | c.521G>A (p.Cys174Tyr)
| |
| 13 | g.20222961A= | CA2077159661 | GJB6 | c.520T= (p.Cys174=)
| |
| 13 | g.20222961A>C | CA387467930 | GJB6 | c.520T>G (p.Cys174Gly)
| |
| 13 | g.20222961A>G | CA246490679 | GJB6 | c.520T>C (p.Cys174Arg)
| dbSNP |
| 13 | g.20222961A>T | CA387467931 | GJB6 | c.520T>A (p.Cys174Ser)
| |
| 13 | g.20222962G>A | CA483154379 | GJB6 | c.519C>T (p.Pro173=)
| |
| 13 | g.20222962G>C | CA483154380 | GJB6 | c.519C>G (p.Pro173=)
| gnomAD v4 |
| 13 | g.20222962G>T | CA483154381 | GJB6 | c.519C>A (p.Pro173=)
| |
| 13 | g.20222965dup | CA246490681 | GJB6 | c.519dup (p.Cys174LeufsTer6)
| dbSNP |
| 13 | g.20222963G>A | CA6904423 | GJB6 | c.518C>T (p.Pro173Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222963G>C | CA387467932 | GJB6 | c.518C>G (p.Pro173Arg)
| |
| 13 | g.20222963G= | CA2077159665 | GJB6 | c.518C= (p.Pro173=)
| |
| 13 | g.20222963G>T | CA387467933 | GJB6 | c.518C>A (p.Pro173His)
| |
| 13 | g.20222964G>A | CA6904424 | GJB6 | c.517C>T (p.Pro173Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222964G>C | CA387467934 | GJB6 | c.517C>G (p.Pro173Ala)
| |
| 13 | g.20222964G= | CA2077159669 | GJB6 | c.517C= (p.Pro173=)
| |
| 13 | g.20222964G>T | CA387467935 | GJB6 | c.517C>A (p.Pro173Thr)
| |
| 13 | g.20222965G>A | CA483154384 | GJB6 | c.516C>T (p.Asp172=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222965G>C | CA387467936 | GJB6 | c.516C>G (p.Asp172Glu)
| gnomAD v4 |
| 13 | g.20222965G= | CA2077159672 | GJB6 | c.516C= (p.Asp172=)
| |
| 13 | g.20222965G>T | CA6904425 | GJB6 | c.516C>A (p.Asp172Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222966T>A | CA387467937 | GJB6 | c.515A>T (p.Asp172Val)
| |
| 13 | g.20222966T>C | CA387467938 | GJB6 | c.515A>G (p.Asp172Gly)
| |
| 13 | g.20222966T>G | CA387467939 | GJB6 | c.515A>C (p.Asp172Ala)
| |
| 13 | g.20222967C>A | CA387467940 | GJB6 | c.514G>T (p.Asp172Tyr)
| gnomAD v4 |
| 13 | g.20222967C= | CA2077159674 | GJB6 | c.514G= (p.Asp172=)
| |
| 13 | g.20222967C>G | CA387467941 | GJB6 | c.514G>C (p.Asp172His)
| gnomAD v4 |
| 13 | g.20222967C>T | CA6904426 | GJB6 | c.514G>A (p.Asp172Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222968A= | CA2077159676 | GJB6 | c.513T= (p.Ile171=)
| |
| 13 | g.20222968A>C | CA387467942 | GJB6 | c.513T>G (p.Ile171Met)
| |
| 13 | g.20222968A>G | CA483154388 | GJB6 | c.513T>C (p.Ile171=)
| |
| 13 | g.20222968A>T | CA6904427 | GJB6 | c.513T>A (p.Ile171=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222969A>C | CA387467945 | GJB6 | c.512T>G (p.Ile171Ser)
| |
| 13 | g.20222969A>G | CA387467943 | GJB6 | c.512T>C (p.Ile171Thr)
| gnomAD v4 |
| 13 | g.20222969A>T | CA387467944 | GJB6 | c.512T>A (p.Ile171Asn)
| COSMIC |
| 13 | g.20222970T>A | CA387467946 | GJB6 | c.511A>T (p.Ile171Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222970T>C | CA387467947 | GJB6 | c.511A>G (p.Ile171Val)
| |
| 13 | g.20222970T>G | CA387467948 | GJB6 | c.511A>C (p.Ile171Leu)
| |
| 13 | g.20222970T= | CA2077159678 | GJB6 | c.511A= (p.Ile171=)
| |
| 13 | g.20222971C>A | CA483154393 | GJB6 | c.510G>T (p.Gly170=)
| |
| 13 | g.20222971C>G | CA483154396 | GJB6 | c.510G>C (p.Gly170=)
| |
| 13 | g.20222971C>T | CA483154395 | GJB6 | c.510G>A (p.Gly170=)
| COSMIC |
| 13 | g.20222972C>A | CA387467949 | GJB6 | c.509G>T (p.Gly170Val)
| gnomAD v4 |
| 13 | g.20222972C>G | CA387467950 | GJB6 | c.509G>C (p.Gly170Ala)
| |
| 13 | g.20222972C>T | CA387467951 | GJB6 | c.509G>A (p.Gly170Glu)
| gnomAD v4 |
| 13 | g.20222973C>A | CA387467952 | GJB6 | c.508G>T (p.Gly170Trp)
| |
| 13 | g.20222973C>G | CA387467953 | GJB6 | c.508G>C (p.Gly170Arg)
| |
| 13 | g.20222973C>T | CA387467954 | GJB6 | c.508G>A (p.Gly170Arg)
| |
| 13 | g.20222974A>C | CA387467955 | GJB6 | c.507T>G (p.Cys169Trp)
| |
| 13 | g.20222974A>G | CA483154400 | GJB6 | c.507T>C (p.Cys169=)
| |
| 13 | g.20222974A>T | CA387467956 | GJB6 | c.507T>A (p.Cys169Ter)
| |
| 13 | g.20222975C>A | CA387467959 | GJB6 | c.506G>T (p.Cys169Phe)
| gnomAD v4 |
| 13 | g.20222975C>G | CA387467958 | GJB6 | c.506G>C (p.Cys169Ser)
| |
| 13 | g.20222975C>T | CA387467957 | GJB6 | c.506G>A (p.Cys169Tyr)
| gnomAD v4 |
| 13 | g.20222976A>C | CA387467960 | GJB6 | c.505T>G (p.Cys169Gly)
| |
| 13 | g.20222976A>G | CA387467961 | GJB6 | c.505T>C (p.Cys169Arg)
| |
| 13 | g.20222976A>T | CA387467962 | GJB6 | c.505T>A (p.Cys169Ser)
| |
| 13 | g.20222977T>A | CA387467963 | GJB6 | c.504A>T (p.Lys168Asn)
| gnomAD v4 |
| 13 | g.20222977T>C | CA483154405 | GJB6 | c.504A>G (p.Lys168=)
| |
| 13 | g.20222977T>G | CA6904428 | GJB6 | c.504A>C (p.Lys168Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222977T= | CA2077159681 | GJB6 | c.504A= (p.Lys168=)
| |
| 13 | g.20222978T>A | CA387467964 | GJB6 | c.503A>T (p.Lys168Ile)
| |
| 13 | g.20222978T>C | CA387467965 | GJB6 | c.503A>G (p.Lys168Arg)
| |
| 13 | g.20222978T>G | CA387467966 | GJB6 | c.503A>C (p.Lys168Thr)
| |
| 13 | g.20222979T>A | CA387467967 | GJB6 | c.502A>T (p.Lys168Ter)
| |
| 13 | g.20222979T>C | CA387467968 | GJB6 | c.502A>G (p.Lys168Glu)
| COSMIC |
| 13 | g.20222979T>G | CA387467969 | GJB6 | c.502A>C (p.Lys168Gln)
| |
| 13 | g.20222980C>A | CA387467970 | GJB6 | c.501G>T (p.Leu167Phe)
| |
| 13 | g.20222980C>G | CA387467971 | GJB6 | c.501G>C (p.Leu167Phe)
| |
| 13 | g.20222980C>T | CA483154410 | GJB6 | c.501G>A (p.Leu167=)
| |
| 13 | g.20222981A>C | CA387467974 | GJB6 | c.500T>G (p.Leu167Trp)
| |
| 13 | g.20222981A>G | CA387467972 | GJB6 | c.500T>C (p.Leu167Ser)
| gnomAD v4 |
| 13 | g.20222981A>T | CA387467973 | GJB6 | c.500T>A (p.Leu167Ter)
| |
| 13 | g.20222982A>C | CA387467975 | GJB6 | c.499T>G (p.Leu167Val)
| |
| 13 | g.20222982A>G | CA483154414 | GJB6 | c.499T>C (p.Leu167=)
| |
| 13 | g.20222982A>T | CA387467976 | GJB6 | c.499T>A (p.Leu167Met)
| |
| 13 | g.20222983C>A | CA483154416 | GJB6 | c.498G>T (p.Val166=)
| |
| 13 | g.20222983C= | CA2077159683 | GJB6 | c.498G= (p.Val166=)
| |
| 13 | g.20222983C>G | CA483154419 | GJB6 | c.498G>C (p.Val166=)
| COSMIC |
| 13 | g.20222983C>T | CA198814 | GJB6 | c.498G>A (p.Val166=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222984A>C | CA387467977 | GJB6 | c.497T>G (p.Val166Gly)
| dbSNP gnomAD v4 |
| 13 | g.20222984A>G | CA387467978 | GJB6 | c.497T>C (p.Val166Ala)
| |
| 13 | g.20222984A>T | CA387467979 | GJB6 | c.497T>A (p.Val166Glu)
| |
| 13 | g.20222985C>A | CA387467980 | GJB6 | c.496G>T (p.Val166Leu)
| |
| 13 | g.20222985C>G | CA387467981 | GJB6 | c.496G>C (p.Val166Leu)
| |
| 13 | g.20222985C>T | CA387467982 | GJB6 | c.496G>A (p.Val166Met)
| |
| 13 | g.20222986C>A | CA387467983 | GJB6 | c.495G>T (p.Trp165Cys)
| |
| 13 | g.20222986C= | CA2077159690 | GJB6 | c.495G= (p.Trp165=)
| |
| 13 | g.20222986C>G | CA387467984 | GJB6 | c.495G>C (p.Trp165Cys)
| |
| 13 | g.20222986C>T | CA387467985 | GJB6 | c.495G>A (p.Trp165Ter)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.20222987C>A | CA387467986 | GJB6 | c.494G>T (p.Trp165Leu)
| gnomAD v4 |
| 13 | g.20222987C= | CA2077159692 | GJB6 | c.494G= (p.Trp165=)
| |
| 13 | g.20222987C>G | CA387467987 | GJB6 | c.494G>C (p.Trp165Ser)
| |
| 13 | g.20222987C>T | CA246490722 | GJB6 | c.494G>A (p.Trp165Ter)
| dbSNP gnomAD v4 |
| 13 | g.20222988A>C | CA387467989 | GJB6 | c.493T>G (p.Trp165Gly)
| |
| 13 | g.20222988A>G | CA387467988 | GJB6 | c.493T>C (p.Trp165Arg)
| |
| 13 | g.20222988A>T | CA387467990 | GJB6 | c.493T>A (p.Trp165Arg)
| |
| 13 | g.20222989G>A | CA483154430 | GJB6 | c.492C>T (p.Pro164=)
| gnomAD v4 |
| 13 | g.20222989G>C | CA483154435 | GJB6 | c.492C>G (p.Pro164=)
| |
| 13 | g.20222989G>T | CA483154434 | GJB6 | c.492C>A (p.Pro164=)
| |
| 13 | g.20222991del | CA483154433 | GJB6 | c.492del (p.Trp165GlyfsTer3)
| |
| 13 | g.20222990G>A | CA387467991 | GJB6 | c.491C>T (p.Pro164Leu)
| |
| 13 | g.20222990G>C | CA387467992 | GJB6 | c.491C>G (p.Pro164Arg)
| |
| 13 | g.20222990G>T | CA387467993 | GJB6 | c.491C>A (p.Pro164His)
| |
| 13 | g.20222991G>A | CA6904429 | GJB6 | c.490C>T (p.Pro164Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222991G>C | CA387467994 | GJB6 | c.490C>G (p.Pro164Ala)
| |
| 13 | g.20222991G= | CA2077159695 | GJB6 | c.490C= (p.Pro164=)
| |
| 13 | g.20222991G>T | CA387467995 | GJB6 | c.490C>A (p.Pro164Thr)
| |
| 13 | g.20222992C>A | CA483154439 | GJB6 | c.489G>T (p.Leu163=)
| |
| 13 | g.20222992C= | CA2077159698 | GJB6 | c.489G= (p.Leu163=)
| |
| 13 | g.20222992C>G | CA483154442 | GJB6 | c.489G>C (p.Leu163=)
| gnomAD v4 |
| 13 | g.20222992C>T | CA136461 | GJB6 | c.489G>A (p.Leu163=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222993A>C | CA387467996 | GJB6 | c.488T>G (p.Leu163Arg)
| |
| 13 | g.20222993A>G | CA387467997 | GJB6 | c.488T>C (p.Leu163Pro)
| |
| 13 | g.20222993A>T | CA387467998 | GJB6 | c.488T>A (p.Leu163Gln)
| |
| 13 | g.20222993_20222994delinsAG | CA2077159702 | GJB6 | c.487_488delinsCT (p.Leu163=)
| |
| 13 | g.20222994G>A | CA483154446 | GJB6 | c.487C>T (p.Leu163=)
| |
| 13 | g.20222994G>C | CA387467999 | GJB6 | c.487C>G (p.Leu163Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222994G= | CA2077159705 | GJB6 | c.487C= (p.Leu163=)
| |
| 13 | g.20222994G>T | CA387468000 | GJB6 | c.487C>A (p.Leu163Met)
| gnomAD v4 |
| 13 | g.20222995del | CA658823444 | GJB6 | c.487del (p.Leu163CysfsTer5)
| ClinVar dbSNP |
| 13 | g.20222995G>A | CA483154448 | GJB6 | c.486C>T (p.His162=)
| gnomAD v4 |
| 13 | g.20222995G>C | CA387468002 | GJB6 | c.486C>G (p.His162Gln)
| |
| 13 | g.20222995G= | CA2077159707 | GJB6 | c.486C= (p.His162=)
| |
| 13 | g.20222995G>T | CA387468001 | GJB6 | c.486C>A (p.His162Gln)
| |
| 13 | g.20222996T>A | CA387468003 | GJB6 | c.485A>T (p.His162Leu)
| |
| 13 | g.20222996T>C | CA387468004 | GJB6 | c.485A>G (p.His162Arg)
| |
| 13 | g.20222996T>G | CA387468005 | GJB6 | c.485A>C (p.His162Pro)
| |
| 13 | g.20222996dup | CA6904430 | GJB6 | c.485dup (p.His162GlnfsTer11)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222997G>A | CA387468006 | GJB6 | c.484C>T (p.His162Tyr)
| |
| 13 | g.20222997G>C | CA387468007 | GJB6 | c.484C>G (p.His162Asp)
| |
| 13 | g.20222997G>T | CA387468008 | GJB6 | c.484C>A (p.His162Asn)
| |
| 13 | g.20222998G>A | CA483154455 | GJB6 | c.483C>T (p.Tyr161=)
| |
| 13 | g.20222998G>C | CA387468009 | GJB6 | c.483C>G (p.Tyr161Ter)
| gnomAD v4 |
| 13 | g.20222998G>T | CA387468010 | GJB6 | c.483C>A (p.Tyr161Ter)
| |
| 13 | g.20223001_20223009dup | CA2622252294 | GJB6 | c.475_483dup (p.Tyr161_His162insAsnGlyTyr)
| gnomAD v4 |
| 13 | g.20222999T>A | CA387468011 | GJB6 | c.482A>T (p.Tyr161Phe)
| |
| 13 | g.20222999T>C | CA387468012 | GJB6 | c.482A>G (p.Tyr161Cys)
| dbSNP |
| 13 | g.20222999T>G | CA387468013 | GJB6 | c.482A>C (p.Tyr161Ser)
| |
| 13 | g.20222999T= | CA2077159710 | GJB6 | c.482A= (p.Tyr161=)
| |
| 13 | g.20223000A>C | CA387468016 | GJB6 | c.481T>G (p.Tyr161Asp)
| |
| 13 | g.20223000A>G | CA387468015 | GJB6 | c.481T>C (p.Tyr161His)
| COSMIC |
| 13 | g.20223000A>T | CA387468014 | GJB6 | c.481T>A (p.Tyr161Asn)
| |
| 13 | g.20223001C>A | CA483154456 | GJB6 | c.480G>T (p.Gly160=)
| gnomAD v4 |
| 13 | g.20223001C= | CA2077159712 | GJB6 | c.480G= (p.Gly160=)
| |
| 13 | g.20223001C>G | CA483154458 | GJB6 | c.480G>C (p.Gly160=)
| dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20223001C>T | CA6904431 | GJB6 | c.480G>A (p.Gly160=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20223002C>A | CA387468017 | GJB6 | c.479G>T (p.Gly160Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20223002C= | CA2077159715 | GJB6 | c.479G= (p.Gly160=)
| |
| 13 | g.20223002C>G | CA6904432 | GJB6 | c.479G>C (p.Gly160Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20223002C>T | CA387468018 | GJB6 | c.479G>A (p.Gly160Glu)
| |
| 13 | g.20223003C>A | CA387468019 | GJB6 | c.478G>T (p.Gly160Trp)
| |
| 13 | g.20223003C= | CA2077159718 | GJB6 | c.478G= (p.Gly160=)
| |
| 13 | g.20223003C>G | CA387468020 | GJB6 | c.478G>C (p.Gly160Arg)
| |
| 13 | g.20223003C>T | CA246490729 | GJB6 | c.478G>A (p.Gly160Arg)
| dbSNP gnomAD v4 |
| 13 | g.20223004A= | CA2077159720 | GJB6 | c.477T= (p.Asn159=)
| |
| 13 | g.20223004A>C | CA387468021 | GJB6 | c.477T>G (p.Asn159Lys)
| |
| 13 | g.20223004A>G | CA246490732 | GJB6 | c.477T>C (p.Asn159=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20223004A>T | CA387468022 | GJB6 | c.477T>A (p.Asn159Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20223005T>A | CA387468023 | GJB6 | c.476A>T (p.Asn159Ile)
| |
| 13 | g.20223005T>C | CA136458 | GJB6 | c.476A>G (p.Asn159Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20223005T>G | CA387468024 | GJB6 | c.476A>C (p.Asn159Thr)
| dbSNP |
| 13 | g.20223005T= | CA2077159725 | GJB6 | c.476A= (p.Asn159=)
| |
| 13 | g.20223005_20223016delinsTTGTAAAGGAAG | CA2077159724 | GJB6 | c.465_476delinsCTTCCTTTACAA (p.Tyr155=)
| |
| 13 | g.20223006T>A | CA387468027 | GJB6 | c.475A>T (p.Asn159Tyr)
| |
| 13 | g.20223006T>C | CA387468025 | GJB6 | c.475A>G (p.Asn159Asp)
| gnomAD v4 |
| 13 | g.20223006T>G | CA387468026 | GJB6 | c.475A>C (p.Asn159His)
| |
| 13 | g.20223006_20223007insACTTCCT | CA608984170 | GJB6 | c.475_476insGGAAGTA (p.Asn159ArgfsTer3)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20223007_20223017del | CA6904433 | GJB6 | c.465_475del (p.Tyr155Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20223007G>A | CA483154472 | GJB6 | c.474C>T (p.Tyr158=)
| gnomAD v4 |
| 13 | g.20223007G>C | CA387468028 | GJB6 | c.474C>G (p.Tyr158Ter)
| |
| 13 | g.20223007G>T | CA387468029 | GJB6 | c.474C>A (p.Tyr158Ter)
| |
| 13 | g.20223008T>A | CA387468030 | GJB6 | c.473A>T (p.Tyr158Phe)
| |
| 13 | g.20223008T>C | CA387468031 | GJB6 | c.473A>G (p.Tyr158Cys)
| dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20223008T>G | CA387468032 | GJB6 | c.473A>C (p.Tyr158Ser)
| |
| 13 | g.20223008T= | CA2077159731 | GJB6 | c.473A= (p.Tyr158=)
| |
| 13 | g.20223009A>C | CA387468033 | GJB6 | c.472T>G (p.Tyr158Asp)
| |
| 13 | g.20223009A>G | CA387468034 | GJB6 | c.472T>C (p.Tyr158His)
| |
| 13 | g.20223009A>T | CA387468035 | GJB6 | c.472T>A (p.Tyr158Asn)
| |
| 13 | g.20223010A>C | CA483154477 | GJB6 | c.471T>G (p.Leu157=)
| |
| 13 | g.20223010A>G | CA483154479 | GJB6 | c.471T>C (p.Leu157=)
| |
| 13 | g.20223010A>T | CA483154480 | GJB6 | c.471T>A (p.Leu157=)
| |
| 13 | g.20223011A>C | CA387468036 | GJB6 | c.470T>G (p.Leu157Arg)
| |
| 13 | g.20223011A>G | CA387468037 | GJB6 | c.470T>C (p.Leu157Pro)
| |
| 13 | g.20223011A>T | CA387468038 | GJB6 | c.470T>A (p.Leu157His)
| |
| 13 | g.20223012G>A | CA387468040 | GJB6 | c.469C>T (p.Leu157Phe)
| |
| 13 | g.20223012G>C | CA6904434 | GJB6 | c.469C>G (p.Leu157Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20223012G= | CA2077159735 | GJB6 | c.469C= (p.Leu157=)
| |
| 13 | g.20223012G>T | CA387468039 | GJB6 | c.469C>A (p.Leu157Ile)
| |
| 13 | g.20223013G>A | CA483154495 | GJB6 | c.468C>T (p.Phe156=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20223013G>C | CA387468042 | GJB6 | c.468C>G (p.Phe156Leu)
| |
| 13 | g.20223013G= | CA2077159738 | GJB6 | c.468C= (p.Phe156=)
| |
| 13 | g.20223013G>T | CA387468041 | GJB6 | c.468C>A (p.Phe156Leu)
| gnomAD v4 |
| 13 | g.20223014A>C | CA387468045 | GJB6 | c.467T>G (p.Phe156Cys)
| |
| 13 | g.20223014A>G | CA387468043 | GJB6 | c.467T>C (p.Phe156Ser)
| |
| 13 | g.20223014A>T | CA387468044 | GJB6 | c.467T>A (p.Phe156Tyr)
| gnomAD v4 |
| 13 | g.20223015A= | CA2077159740 | GJB6 | c.466T= (p.Phe156=)
| |
| 13 | g.20223015A>C | CA387468046 | GJB6 | c.466T>G (p.Phe156Val)
| ClinVar dbSNP |
| 13 | g.20223015A>G | CA387468047 | GJB6 | c.466T>C (p.Phe156Leu)
| |
| 13 | g.20223015A>T | CA387468048 | GJB6 | c.466T>A (p.Phe156Ile)
| |
| 13 | g.20223016G>A | CA483154505 | GJB6 | c.465C>T (p.Tyr155=)
| |
| 13 | g.20223016G>C | CA387468049 | GJB6 | c.465C>G (p.Tyr155Ter)
| |
| 13 | g.20223016G>T | CA387468050 | GJB6 | c.465C>A (p.Tyr155Ter)
| |
| 13 | g.20223017T>A | CA387468051 | GJB6 | c.464A>T (p.Tyr155Phe)
| |
| 13 | g.20223017T>C | CA387468052 | GJB6 | c.464A>G (p.Tyr155Cys)
| |
| 13 | g.20223017T>G | CA387468053 | GJB6 | c.464A>C (p.Tyr155Ser)
| |
| 13 | g.20223018A= | CA2077159746 | GJB6 | c.463T= (p.Tyr155=)
| |
| 13 | g.20223018A>C | CA387468054 | GJB6 | c.463T>G (p.Tyr155Asp)
| |
| 13 | g.20223018A>G | CA387468055 | GJB6 | c.463T>C (p.Tyr155His)
| dbSNP |
| 13 | g.20223018A>T | CA387468056 | GJB6 | c.463T>A (p.Tyr155Asn)
| |
| 13 | g.20223019A>C | CA387468057 | GJB6 | c.462T>G (p.Phe154Leu)
| |
| 13 | g.20223019A>G | CA483154520 | GJB6 | c.462T>C (p.Phe154=)
| |
| 13 | g.20223019A>T | CA387468058 | GJB6 | c.462T>A (p.Phe154Leu)
| |
| 13 | g.20223020A>C | CA387468059 | GJB6 | c.461T>G (p.Phe154Cys)
| |
| 13 | g.20223020A>G | CA387468060 | GJB6 | c.461T>C (p.Phe154Ser)
| |
| 13 | g.20223020A>T | CA387468061 | GJB6 | c.461T>A (p.Phe154Tyr)
| |
| 13 | g.20223020_20223022delinsAAC | CA2077159750 | GJB6 | c.459_461delinsGTT (p.Val153=)
| |
| 13 | g.20223021A= | CA2077159752 | GJB6 | c.460T= (p.Phe154=)
| |
| 13 | g.20223021A>C | CA387468062 | GJB6 | c.460T>G (p.Phe154Val)
| |
| 13 | g.20223021A>G | CA387468063 | GJB6 | c.460T>C (p.Phe154Leu)
| |
| 13 | g.20223021A>T | CA246490748 | GJB6 | c.460T>A (p.Phe154Ile)
| ClinVar dbSNP gnomAD v4 |
| 13 | g.20223024_20223025del | CA2077159753 | GJB6 | c.459_460del (p.Phe154LeufsTer18)
| dbSNP |
| 13 | g.20223022C>A | CA483154531 | GJB6 | c.459G>T (p.Val153=)
| |
| 13 | g.20223022C= | CA2077159755 | GJB6 | c.459G= (p.Val153=)
| |
| 13 | g.20223022C>G | CA483154532 | GJB6 | c.459G>C (p.Val153=)
| |
| 13 | g.20223022C>T | CA483154534 | GJB6 | c.459G>A (p.Val153=)
| dbSNP |
| 13 | g.20223023A= | CA2077159757 | GJB6 | c.458T= (p.Val153=)
| |
| 13 | g.20223023A>C | CA246490750 | GJB6 | c.458T>G (p.Val153Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20223023A>G | CA6904435 | GJB6 | c.458T>C (p.Val153Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20223023A>T | CA387468064 | GJB6 | c.458T>A (p.Val153Glu)
| |
| 13 | g.20223024C>A | CA387468065 | GJB6 | c.457G>T (p.Val153Leu)
| |
| 13 | g.20223024C= | CA2077159759 | GJB6 | c.457G= (p.Val153=)
| |
| 13 | g.20223024C>G | CA387468066 | GJB6 | c.457G>C (p.Val153Leu)
| |
| 13 | g.20223024C>T | CA6904436 | GJB6 | c.457G>A (p.Val153Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20223025A= | CA2077159761 | GJB6 | c.456T= (p.Tyr152=)
| |
| 13 | g.20223025A>C | CA6904437 | GJB6 | c.456T>G (p.Tyr152Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20223025A>G | CA483154542 | GJB6 | c.456T>C (p.Tyr152=)
| gnomAD v4 |
| 13 | g.20223025A>T | CA387468067 | GJB6 | c.456T>A (p.Tyr152Ter)
| |
| 13 | g.20223026T>A | CA387468068 | GJB6 | c.455A>T (p.Tyr152Phe)
| |
| 13 | g.20223026T>C | CA387468069 | GJB6 | c.455A>G (p.Tyr152Cys)
| gnomAD v4 |
| 13 | g.20223026T>G | CA387468070 | GJB6 | c.455A>C (p.Tyr152Ser)
| |
| 13 | g.20223027A>C | CA387468071 | GJB6 | c.454T>G (p.Tyr152Asp)
| |
| 13 | g.20223027A>G | CA387468072 | GJB6 | c.454T>C (p.Tyr152His)
| |
| 13 | g.20223027A>T | CA387468073 | GJB6 | c.454T>A (p.Tyr152Asn)
| |
| 13 | g.20223028C>A | CA387468074 | GJB6 | c.453G>T (p.Met151Ile)
| |
| 13 | g.20223028C>G | CA387468075 | GJB6 | c.453G>C (p.Met151Ile)
| COSMIC |
| 13 | g.20223028C>T | CA387468076 | GJB6 | c.453G>A (p.Met151Ile)
| |
| 13 | g.20223029A>C | CA387468077 | GJB6 | c.452T>G (p.Met151Arg)
| |
| 13 | g.20223029A>G | CA387468078 | GJB6 | c.452T>C (p.Met151Thr)
| |
| 13 | g.20223029A>T | CA387468079 | GJB6 | c.452T>A (p.Met151Lys)
| |
| 13 | g.20223030T>A | CA387468081 | GJB6 | c.451A>T (p.Met151Leu)
| |
| 13 | g.20223030T>C | CA6904438 | GJB6 | c.451A>G (p.Met151Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20223030T>G | CA387468080 | GJB6 | c.451A>C (p.Met151Leu)
| |
| 13 | g.20223030T= | CA2077159763 | GJB6 | c.451A= (p.Met151=)
| |
| 13 | g.20223031A>C | CA387468082 | GJB6 | c.450T>G (p.Phe150Leu)
| |
| 13 | g.20223031A>G | CA483154554 | GJB6 | c.450T>C (p.Phe150=)
| |
| 13 | g.20223031A>T | CA387468083 | GJB6 | c.450T>A (p.Phe150Leu)
| |
| 13 | g.20223032A>C | CA387468084 | GJB6 | c.449T>G (p.Phe150Cys)
| |
| 13 | g.20223032A>G | CA387468085 | GJB6 | c.449T>C (p.Phe150Ser)
| gnomAD v4 |
| 13 | g.20223032A>T | CA387468086 | GJB6 | c.449T>A (p.Phe150Tyr)
| |
| 13 | g.20223033A>C | CA387468089 | GJB6 | c.448T>G (p.Phe150Val)
| |
| 13 | g.20223033A>G | CA387468087 | GJB6 | c.448T>C (p.Phe150Leu)
| |
| 13 | g.20223033A>T | CA387468088 | GJB6 | c.448T>A (p.Phe150Ile)
| |
| 13 | g.20223034G>A | CA483154560 | GJB6 | c.447C>T (p.Ala149=)
| |
| 13 | g.20223034G>C | CA483154563 | GJB6 | c.447C>G (p.Ala149=)
| dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20223034G= | CA2077159767 | GJB6 | c.447C= (p.Ala149=)
| |
| 13 | g.20223034G>T | CA483154561 | GJB6 | c.447C>A (p.Ala149=)
| dbSNP |
| 13 | g.20223035G>A | CA6904439 | GJB6 | c.446C>T (p.Ala149Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20223035G>C | CA387468090 | GJB6 | c.446C>G (p.Ala149Gly)
| |
| 13 | g.20223035G= | CA2077159769 | GJB6 | c.446C= (p.Ala149=)
| |
| 13 | g.20223035G>T | CA387468091 | GJB6 | c.446C>A (p.Ala149Asp)
| dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20223036C>A | CA387468092 | GJB6 | c.445G>T (p.Ala149Ser)
| dbSNP |
| 13 | g.20223036C>G | CA387468093 | GJB6 | c.445G>C (p.Ala149Pro)
| |
| 13 | g.20223036C>T | CA387468094 | GJB6 | c.445G>A (p.Ala149Thr)
| gnomAD v4 |
| 13 | g.20223037T>A | CA483154570 | GJB6 | c.444A>T (p.Ala148=)
| |
| 13 | g.20223037T>C | CA483154571 | GJB6 | c.444A>G (p.Ala148=)
| |
| 13 | g.20223037T>G | CA483154572 | GJB6 | c.444A>C (p.Ala148=)
| |
| 13 | g.20223037T= | CA2077159771 | GJB6 | c.444A= (p.Ala148=)
| |
| 13 | g.20223037_20223038insC | CA953779518 | GJB6 | c.443_444insG (p.Ala149SerfsTer24)
| gnomAD v3 gnomAD v4 |
| 13 | g.20223037_20223038insCGTCAAATTCATAGAGACGGAAGGTGGAATGGTGGTTGTCAGGG | CA6904440 | GJB6 | c.443_444insCCCTGACAACCACCATTCCACCTTCCGTCTCTATGAATTTGACG (p.Ala149ProfsTer34)
| dbSNP ExAC gnomAD v4 |
| 13 | g.20223038del | CA2622252296 | GJB6 | c.443del (p.Ala148GlufsTer20)
| gnomAD v4 |
| 13 | g.20223038G>A | CA6904441 | GJB6 | c.443C>T (p.Ala148Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20223038G>C | CA387468095 | GJB6 | c.443C>G (p.Ala148Gly)
| gnomAD v4 |
| 13 | g.20223038G= | CA2077159775 | GJB6 | c.443C= (p.Ala148=)
| |
| 13 | g.20223038G>T | CA387468096 | GJB6 | c.443C>A (p.Ala148Glu)
| |
| 13 | g.20223038_20223039insTCAAATTCATAGAGACGGAAGGTGGAATGGTGGTTGTCAGGGGCTGTGGGGAGAAAGAAATGGGGAGTTTGGAAATAGAGTTTCAGTGGCACAAGAAACCA | CA953779521 | GJB6 | c.442_443insTGGTTTCTTGTGCCACTGAAACTCTATTTCCAAACTCCCCATTTCTTTCTCCCCACAGCCCCTGACAACCACCATTCCACCTTCCGTCTCTATGAATTTGA (p.Ala148ValfsTer22)
| gnomAD v3 gnomAD v4 |
| 13 | g.20223039C>A | CA387468097 | GJB6 | c.442G>T (p.Ala148Ser)
| |
| 13 | g.20223039C>G | CA387468098 | GJB6 | c.442G>C (p.Ala148Pro)
| |
| 13 | g.20223039C>T | CA387468099 | GJB6 | c.442G>A (p.Ala148Thr)
| gnomAD v4 |
| 13 | g.20223040T>A | CA387468100 | GJB6 | c.441A>T (p.Glu147Asp)
| |
| 13 | g.20223040T>C | CA483154578 | GJB6 | c.441A>G (p.Glu147=)
| |
| 13 | g.20223040T>G | CA387468101 | GJB6 | c.441A>C (p.Glu147Asp)
| dbSNP gnomAD v4 |
| 13 | g.20223040T= | CA2077159778 | GJB6 | c.441A= (p.Glu147=)
| |
| 13 | g.20223040_20223041insGTGGGGAGAAAGAAATGGGGAGTTTGGAAATAGAGTT | CA2622252298 | GJB6 | c.441_442insACTCTATTTCCAAACTCCCCATTTCTTTCTCCCCACA (p.Ala148ThrfsTer37)
| gnomAD v4 |
| 13 | g.20223041T>A | CA387468102 | GJB6 | c.440A>T (p.Glu147Val)
| |
| 13 | g.20223041T>C | CA387468103 | GJB6 | c.440A>G (p.Glu147Gly)
| |
| 13 | g.20223041T>G | CA387468104 | GJB6 | c.440A>C (p.Glu147Ala)
| |
| 13 | g.20223042C>A | CA387468105 | GJB6 | c.439G>T (p.Glu147Ter)
| |
| 13 | g.20223042C= | CA2077159780 | GJB6 | c.439G= (p.Glu147=)
| |
| 13 | g.20223042C>G | CA387468106 | GJB6 | c.439G>C (p.Glu147Gln)
| |
| 13 | g.20223042C>T | CA387468107 | GJB6 | c.439G>A (p.Glu147Lys)
| dbSNP COSMIC |
| 13 | g.20223043A= | CA2077159782 | GJB6 | c.438T= (p.Phe146=)
| |
| 13 | g.20223043A>C | CA387468108 | GJB6 | c.438T>G (p.Phe146Leu)
| |
| 13 | g.20223043A>G | CA483154194 | GJB6 | c.438T>C (p.Phe146=)
| dbSNP gnomAD v4 |
| 13 | g.20223043A>T | CA387468109 | GJB6 | c.438T>A (p.Phe146Leu)
| |
| 13 | g.20223044A>C | CA387468112 | GJB6 | c.437T>G (p.Phe146Cys)
| |
| 13 | g.20223044A>G | CA387468111 | GJB6 | c.437T>C (p.Phe146Ser)
| gnomAD v4 |
| 13 | g.20223044A>T | CA387468110 | GJB6 | c.437T>A (p.Phe146Tyr)
| |
| 13 | g.20223045A>C | CA387468113 | GJB6 | c.436T>G (p.Phe146Val)
| |
| 13 | g.20223045A>G | CA387468114 | GJB6 | c.436T>C (p.Phe146Leu)
| gnomAD v4 |
| 13 | g.20223045A>T | CA387468115 | GJB6 | c.436T>A (p.Phe146Ile)
| |
| 13 | g.20223046G>A | CA483154196 | GJB6 | c.435C>T (p.Ile145=)
| |
| 13 | g.20223046G>C | CA387468116 | GJB6 | c.435C>G (p.Ile145Met)
| gnomAD v4 |
| 13 | g.20223046G>T | CA483154197 | GJB6 | c.435C>A (p.Ile145=)
| |
| 13 | g.20223046_20223074delinsGATGATTCGGAAAAAGATGCTGCTGGTGT | CA2077159785 | GJB6 | c.407_435delinsACACCAGCAGCATCTTTTTCCGAATCATC (p.Tyr136=)
| |
