| X | g.71224195T>A | CA413502745 | GJB1 | c.488T>A (p.Val163Glu)
| |
| X | g.71224195T>C | CA413502747 | GJB1 | c.488T>C (p.Val163Ala)
| |
| X | g.71224195T>G | CA413502749 | GJB1 | c.488T>G (p.Val163Gly)
| |
| X | g.71224196G>A | CA516821028 | GJB1 | c.489G>A (p.Val163=)
| ClinVar |
| X | g.71224196G>C | CA516821029 | GJB1 | c.489G>C (p.Val163=)
| |
| X | g.71224196G>T | CA516821030 | GJB1 | c.489G>T (p.Val163=)
| |
| X | g.71224197C>A | CA516821032 | GJB1 | c.490C>A (p.Arg164=)
| |
| X | g.71224197C= | CA2436388404 | GJB1 | c.490C= (p.Arg164=)
| |
| X | g.71224197C>G | CA413502754 | GJB1 | c.490C>G (p.Arg164Gly)
| ClinVar dbSNP |
| X | g.71224197C>T | CA277620 | GJB1 | c.490C>T (p.Arg164Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.71224198G>A | CA413502758 | GJB1 | c.491G>A (p.Arg164Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.71224198G>C | CA413502759 | GJB1 | c.491G>C (p.Arg164Pro)
| |
| X | g.71224198G= | CA2436388405 | GJB1 | c.491G= (p.Arg164=)
| |
| X | g.71224198G>T | CA413502762 | GJB1 | c.491G>T (p.Arg164Leu)
| ClinVar dbSNP |
| X | g.71224199G>A | CA516821039 | GJB1 | c.492G>A (p.Arg164=)
| |
| X | g.71224199G>C | CA516821041 | GJB1 | c.492G>C (p.Arg164=)
| |
| X | g.71224199G>T | CA516821040 | GJB1 | c.492G>T (p.Arg164=)
| |
| X | g.71224200C>A | CA413502770 | GJB1 | c.493C>A (p.Leu165Met)
| |
| X | g.71224200C>G | CA413502768 | GJB1 | c.493C>G (p.Leu165Val)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224200C>T | CA516821043 | GJB1 | c.493C>T (p.Leu165=)
| COSMIC |
| X | g.71224201T>A | CA413502774 | GJB1 | c.494T>A (p.Leu165Gln)
| ClinVar dbSNP |
| X | g.71224201T>C | CA413502778 | GJB1 | c.494T>C (p.Leu165Pro)
| ClinVar dbSNP |
| X | g.71224201T>G | CA413502775 | GJB1 | c.494T>G (p.Leu165Arg)
| |
| X | g.71224201T= | CA2436388406 | GJB1 | c.494T= (p.Leu165=)
| |
| X | g.71224202G>A | CA516821049 | GJB1 | c.495G>A (p.Leu165=)
| |
| X | g.71224202G>C | CA516821051 | GJB1 | c.495G>C (p.Leu165=)
| |
| X | g.71224202G>T | CA516821052 | GJB1 | c.495G>T (p.Leu165=)
| |
| X | g.71224202_71224207delinsGGTCAA | CA2436388407 | GJB1 | c.495_500delinsGGTCAA (p.Leu165=)
| |
| X | g.71224203G>A | CA413502782 | GJB1 | c.496G>A (p.Val166Ile)
| |
| X | g.71224203G>C | CA413502785 | GJB1 | c.496G>C (p.Val166Leu)
| gnomAD v4 |
| X | g.71224203G>T | CA413502789 | GJB1 | c.496G>T (p.Val166Phe)
| |
| X | g.71224205_71224209del | CA915951208 | GJB1 | c.498_502del (p.Lys167ArgfsTer?)
| ClinVar dbSNP |
| X | g.71224204T>A | CA413502791 | GJB1 | c.497T>A (p.Val166Asp)
| |
| X | g.71224204T>C | CA413502793 | GJB1 | c.497T>C (p.Val166Ala)
| |
| X | g.71224204T>G | CA10445305 | GJB1 | c.497T>G (p.Val166Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224204T= | CA2436388408 | GJB1 | c.497T= (p.Val166=)
| |
| X | g.71224205C>A | CA516821055 | GJB1 | c.498C>A (p.Val166=)
| |
| X | g.71224205C>G | CA516821057 | GJB1 | c.498C>G (p.Val166=)
| |
| X | g.71224205C>T | CA516821058 | GJB1 | c.498C>T (p.Val166=)
| |
| X | g.71224206A= | CA2436388409 | GJB1 | c.499A= (p.Lys167=)
| |
| X | g.71224206A>C | CA413502802 | GJB1 | c.499A>C (p.Lys167Gln)
| |
| X | g.71224206A>G | CA413502800 | GJB1 | c.499A>G (p.Lys167Glu)
| ClinVar dbSNP |
| X | g.71224206A>T | CA413502797 | GJB1 | c.499A>T (p.Lys167Ter)
| |
| X | g.71224207A= | CA2436388410 | GJB1 | c.500A= (p.Lys167=)
| |
| X | g.71224207A>C | CA413502805 | GJB1 | c.500A>C (p.Lys167Thr)
| |
| X | g.71224207A>G | CA413502807 | GJB1 | c.500A>G (p.Lys167Arg)
| |
| X | g.71224207A>T | CA413502810 | GJB1 | c.500A>T (p.Lys167Met)
| dbSNP |
| X | g.71224208G>A | CA10445306 | GJB1 | c.501G>A (p.Lys167=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224208G>C | CA413502814 | GJB1 | c.501G>C (p.Lys167Asn)
| |
| X | g.71224208G= | CA2436388411 | GJB1 | c.501G= (p.Lys167=)
| |
| X | g.71224208G>T | CA413502816 | GJB1 | c.501G>T (p.Lys167Asn)
| ClinVar dbSNP |
| X | g.71224209T>A | CA413502818 | GJB1 | c.502T>A (p.Cys168Ser)
| ClinVar dbSNP |
| X | g.71224209T>C | CA413502821 | GJB1 | c.502T>C (p.Cys168Arg)
| ClinVar dbSNP |
| X | g.71224209T>G | CA16043600 | GJB1 | c.502T>G (p.Cys168Gly)
| ClinVar dbSNP |
| X | g.71224209T= | CA2436388412 | GJB1 | c.502T= (p.Cys168=)
| |
| X | g.71224210G>A | CA413502825 | GJB1 | c.503G>A (p.Cys168Tyr)
| ClinVar dbSNP |
| X | g.71224210G>C | CA413502828 | GJB1 | c.503G>C (p.Cys168Ser)
| |
| X | g.71224210G= | CA2436388413 | GJB1 | c.503G= (p.Cys168=)
| |
| X | g.71224210G>T | CA413502830 | GJB1 | c.503G>T (p.Cys168Phe)
| gnomAD v4 |
| X | g.71224211C>A | CA413502833 | GJB1 | c.504C>A (p.Cys168Ter)
| ClinVar dbSNP |
| X | g.71224211C= | CA2436388414 | GJB1 | c.504C= (p.Cys168=)
| |
| X | g.71224211C>G | CA413502836 | GJB1 | c.504C>G (p.Cys168Trp)
| gnomAD v4 |
| X | g.71224211C>T | CA10445307 | GJB1 | c.504C>T (p.Cys168=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224212G>A | CA10445308 | GJB1 | c.505G>A (p.Asp169Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224212G>C | CA413502842 | GJB1 | c.505G>C (p.Asp169His)
| |
| X | g.71224212G= | CA2436388415 | GJB1 | c.505G= (p.Asp169=)
| |
| X | g.71224212G>T | CA413502844 | GJB1 | c.505G>T (p.Asp169Tyr)
| gnomAD v4 |
| X | g.71224213A= | CA2436388416 | GJB1 | c.506A= (p.Asp169=)
| |
| X | g.71224213A>C | CA413502848 | GJB1 | c.506A>C (p.Asp169Ala)
| |
| X | g.71224213A>G | CA413502850 | GJB1 | c.506A>G (p.Asp169Gly)
| |
| X | g.71224213A>T | CA413502853 | GJB1 | c.506A>T (p.Asp169Val)
| |
| X | g.71224214del | CA2697553170 | GJB1 | c.507del (p.Asp169GlufsTer27)
| ClinVar |
| X | g.71224214C>A | CA413502856 | GJB1 | c.507C>A (p.Asp169Glu)
| dbSNP gnomAD v4 |
| X | g.71224214C= | CA2436388417 | GJB1 | c.507C= (p.Asp169=)
| |
| X | g.71224214C>G | CA413502860 | GJB1 | c.507C>G (p.Asp169Glu)
| |
| X | g.71224214C>T | CA10445309 | GJB1 | c.507C>T (p.Asp169=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.71224215_71224258dup | CA1139667646 | GJB1 | c.508_551dup (p.Thr185SerfsTer26)
| ClinVar dbSNP |
| X | g.71224215G>A | CA10445310 | GJB1 | c.508G>A (p.Val170Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224215G>C | CA413502865 | GJB1 | c.508G>C (p.Val170Leu)
| |
| X | g.71224215G= | CA2436388418 | GJB1 | c.508G= (p.Val170=)
| |
| X | g.71224215G>T | CA413502868 | GJB1 | c.508G>T (p.Val170Phe)
| ClinVar dbSNP |
| X | g.71224216T>A | CA413502871 | GJB1 | c.509T>A (p.Val170Asp)
| ClinVar dbSNP |
| X | g.71224216T>C | CA413502874 | GJB1 | c.509T>C (p.Val170Ala)
| dbSNP |
| X | g.71224216T>G | CA413502878 | GJB1 | c.509T>G (p.Val170Gly)
| ClinVar dbSNP |
| X | g.71224216T= | CA2436388419 | GJB1 | c.509T= (p.Val170=)
| |
| X | g.71224217C>A | CA516821070 | GJB1 | c.510C>A (p.Val170=)
| |
| X | g.71224217C= | CA2436388420 | GJB1 | c.510C= (p.Val170=)
| |
| X | g.71224217C>G | CA10445311 | GJB1 | c.510C>G (p.Val170=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224217C>T | CA516821072 | GJB1 | c.510C>T (p.Val170=)
| |
| X | g.71224218T>A | CA413502881 | GJB1 | c.511T>A (p.Tyr171Asn)
| |
| X | g.71224218T>C | CA413502884 | GJB1 | c.511T>C (p.Tyr171His)
| |
| X | g.71224218T>G | CA413502887 | GJB1 | c.511T>G (p.Tyr171Asp)
| |
| X | g.71224219A= | CA2436388421 | GJB1 | c.512A= (p.Tyr171=)
| |
| X | g.71224219A>C | CA413502891 | GJB1 | c.512A>C (p.Tyr171Ser)
| |
| X | g.71224219A>G | CA10445312 | GJB1 | c.512A>G (p.Tyr171Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224219A>T | CA413502894 | GJB1 | c.512A>T (p.Tyr171Phe)
| dbSNP |
| X | g.71224220C>A | CA413502896 | GJB1 | c.513C>A (p.Tyr171Ter)
| gnomAD v4 |
| X | g.71224220C= | CA2436388422 | GJB1 | c.513C= (p.Tyr171=)
| |
| X | g.71224220C>G | CA413502899 | GJB1 | c.513C>G (p.Tyr171Ter)
| ClinVar dbSNP |
| X | g.71224220C>T | CA516821077 | GJB1 | c.513C>T (p.Tyr171=)
| |
| X | g.71224221C>A | CA413502902 | GJB1 | c.514C>A (p.Pro172Thr)
| |
| X | g.71224221C= | CA2436388423 | GJB1 | c.514C= (p.Pro172=)
| |
| X | g.71224221C>G | CA413502905 | GJB1 | c.514C>G (p.Pro172Ala)
| ClinVar dbSNP |
| X | g.71224221C>T | CA255232 | GJB1 | c.514C>T (p.Pro172Ser)
| ClinVar dbSNP ExAC gnomAD v2 |
| X | g.71224222C>A | CA413502909 | GJB1 | c.515C>A (p.Pro172His)
| |
| X | g.71224222C= | CA2436388424 | GJB1 | c.515C= (p.Pro172=)
| |
| X | g.71224222C>G | CA413502912 | GJB1 | c.515C>G (p.Pro172Arg)
| ClinVar dbSNP |
| X | g.71224222C>T | CA413502914 | GJB1 | c.515C>T (p.Pro172Leu)
| ClinVar dbSNP |
| X | g.71224223C>A | CA516821081 | GJB1 | c.516C>A (p.Pro172=)
| |
| X | g.71224223C>G | CA516821083 | GJB1 | c.516C>G (p.Pro172=)
| |
| X | g.71224223C>T | CA516821085 | GJB1 | c.516C>T (p.Pro172=)
| |
| X | g.71224224T>A | CA413502918 | GJB1 | c.517T>A (p.Cys173Ser)
| |
| X | g.71224224T>C | CA413502920 | GJB1 | c.517T>C (p.Cys173Arg)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224224T>G | CA413502922 | GJB1 | c.517T>G (p.Cys173Gly)
| |
| X | g.71224224T= | CA2436388425 | GJB1 | c.517T= (p.Cys173=)
| |
| X | g.71224225G>A | CA413502925 | GJB1 | c.518G>A (p.Cys173Tyr)
| |
| X | g.71224225G>C | CA413502926 | GJB1 | c.518G>C (p.Cys173Ser)
| |
| X | g.71224225G= | CA2436388426 | GJB1 | c.518G= (p.Cys173=)
| |
| X | g.71224225G>T | CA413502928 | GJB1 | c.518G>T (p.Cys173Phe)
| ClinVar dbSNP |
| X | g.71224226C>A | CA413502931 | GJB1 | c.519C>A (p.Cys173Ter)
| ClinVar dbSNP |
| X | g.71224226C= | CA2436388427 | GJB1 | c.519C= (p.Cys173=)
| |
| X | g.71224226C>G | CA413502934 | GJB1 | c.519C>G (p.Cys173Trp)
| |
| X | g.71224226C>T | CA516821091 | GJB1 | c.519C>T (p.Cys173=)
| ClinVar dbSNP |
| X | g.71224227C>A | CA413502938 | GJB1 | c.520C>A (p.Pro174Thr)
| |
| X | g.71224227C>G | CA413502943 | GJB1 | c.520C>G (p.Pro174Ala)
| ClinVar dbSNP |
| X | g.71224227C>T | CA413502940 | GJB1 | c.520C>T (p.Pro174Ser)
| |
| X | g.71224228C>A | CA413502947 | GJB1 | c.521C>A (p.Pro174His)
| |
| X | g.71224228C= | CA2436388428 | GJB1 | c.521C= (p.Pro174=)
| |
| X | g.71224228C>G | CA413502950 | GJB1 | c.521C>G (p.Pro174Arg)
| ClinVar dbSNP |
| X | g.71224228C>T | CA413502952 | GJB1 | c.521C>T (p.Pro174Leu)
| ClinVar dbSNP |
| X | g.71224229C>A | CA516821095 | GJB1 | c.522C>A (p.Pro174=)
| |
| X | g.71224229C= | CA2436388429 | GJB1 | c.522C= (p.Pro174=)
| |
| X | g.71224229C>G | CA516821099 | GJB1 | c.522C>G (p.Pro174=)
| |
| X | g.71224229C>T | CA516821096 | GJB1 | c.522C>T (p.Pro174=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224230A= | CA2436388430 | GJB1 | c.523A= (p.Asn175=)
| |
| X | g.71224230A>C | CA413502955 | GJB1 | c.523A>C (p.Asn175His)
| |
| X | g.71224230A>G | CA413502958 | GJB1 | c.523A>G (p.Asn175Asp)
| ClinVar dbSNP |
| X | g.71224230A>T | CA413502960 | GJB1 | c.523A>T (p.Asn175Tyr)
| |
| X | g.71224231dup | CA891844221 | GJB1 | c.524dup (p.Asn175LysfsTer?)
| ClinVar dbSNP |
| X | g.71224231A= | CA2436388431 | GJB1 | c.524A= (p.Asn175=)
| |
| X | g.71224231A>C | CA413502962 | GJB1 | c.524A>C (p.Asn175Thr)
| |
| X | g.71224231A>G | CA413502965 | GJB1 | c.524A>G (p.Asn175Ser)
| ClinVar dbSNP |
| X | g.71224231A>T | CA413502967 | GJB1 | c.524A>T (p.Asn175Ile)
| |
| X | g.71224232C>A | CA413502968 | GJB1 | c.525C>A (p.Asn175Lys)
| gnomAD v4 |
| X | g.71224232C>G | CA413502977 | GJB1 | c.525C>G (p.Asn175Lys)
| |
| X | g.71224232C>T | CA516821102 | GJB1 | c.525C>T (p.Asn175=)
| |
| X | g.71224233_71224262dup | CA16621492 | GJB1 | c.526_555dup (p.Thr185_Glu186insThrValAspCysPheValSerArgProThr)
| ClinVar dbSNP |
| X | g.71224233A>C | CA413502986 | GJB1 | c.526A>C (p.Thr176Pro)
| ClinVar gnomAD v4 |
| X | g.71224233A>G | CA413502983 | GJB1 | c.526A>G (p.Thr176Ala)
| ClinVar |
| X | g.71224233A>T | CA413502980 | GJB1 | c.526A>T (p.Thr176Ser)
| |
| X | g.71224234C>A | CA413502989 | GJB1 | c.527C>A (p.Thr176Lys)
| |
| X | g.71224234C= | CA2436388432 | GJB1 | c.527C= (p.Thr176=)
| |
| X | g.71224234C>G | CA413502991 | GJB1 | c.527C>G (p.Thr176Arg)
| |
| X | g.71224234C>T | CA413502993 | GJB1 | c.527C>T (p.Thr176Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224235A= | CA2436388433 | GJB1 | c.528A= (p.Thr176=)
| |
| X | g.71224235A>C | CA516821105 | GJB1 | c.528A>C (p.Thr176=)
| |
| X | g.71224235A>G | CA516821108 | GJB1 | c.528A>G (p.Thr176=)
| dbSNP gnomAD v4 |
| X | g.71224235A>T | CA516821110 | GJB1 | c.528A>T (p.Thr176=)
| |
| X | g.71224235_71224237del | CA2695234569 | GJB1 | c.528_530del (p.Val177del)
| |
| X | g.71224236G>A | CA413502996 | GJB1 | c.529G>A (p.Val177Met)
| ClinVar dbSNP |
| X | g.71224236G>C | CA413502998 | GJB1 | c.529G>C (p.Val177Leu)
| |
| X | g.71224236G= | CA2436388434 | GJB1 | c.529G= (p.Val177=)
| |
| X | g.71224236G>T | CA413503000 | GJB1 | c.529G>T (p.Val177Leu)
| |
| X | g.71224237T>A | CA413503003 | GJB1 | c.530T>A (p.Val177Glu)
| ClinVar dbSNP |
| X | g.71224237T>C | CA413503005 | GJB1 | c.530T>C (p.Val177Ala)
| ClinVar dbSNP |
| X | g.71224237T>G | CA413503006 | GJB1 | c.530T>G (p.Val177Gly)
| |
| X | g.71224237T= | CA2436388435 | GJB1 | c.530T= (p.Val177=)
| |
| X | g.71224238G>A | CA516821114 | GJB1 | c.531G>A (p.Val177=)
| gnomAD v4 |
| X | g.71224238G>C | CA516821116 | GJB1 | c.531G>C (p.Val177=)
| |
| X | g.71224238G= | CA2436388436 | GJB1 | c.531G= (p.Val177=)
| |
| X | g.71224238G>T | CA516821117 | GJB1 | c.531G>T (p.Val177=)
| |
| X | g.71224238_71224239insTTTTT | CA1134115365 | GJB1 | c.531_532insTTTTT (p.Asp178PhefsTer20)
| gnomAD v3 gnomAD v4 |
| X | g.71224239G>A | CA413503011 | GJB1 | c.532G>A (p.Asp178Asn)
| ClinVar dbSNP |
| X | g.71224239G>C | CA413503013 | GJB1 | c.532G>C (p.Asp178His)
| |
| X | g.71224239G= | CA2436388437 | GJB1 | c.532G= (p.Asp178=)
| |
| X | g.71224239G>T | CA413503015 | GJB1 | c.532G>T (p.Asp178Tyr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224240_71224243dup | CA915951209 | GJB1 | c.533_536dup (p.Cys179Ter)
| ClinVar dbSNP |
| X | g.71224240A= | CA2436388438 | GJB1 | c.533A= (p.Asp178=)
| |
| X | g.71224240A>C | CA413503022 | GJB1 | c.533A>C (p.Asp178Ala)
| ClinVar dbSNP |
| X | g.71224240A>G | CA413503019 | GJB1 | c.533A>G (p.Asp178Gly)
| ClinVar dbSNP |
| X | g.71224240A>T | CA413503017 | GJB1 | c.533A>T (p.Asp178Val)
| ClinVar dbSNP |
| X | g.71224241C>A | CA413503023 | GJB1 | c.534C>A (p.Asp178Glu)
| gnomAD v3 gnomAD v4 |
| X | g.71224241C>G | CA413503024 | GJB1 | c.534C>G (p.Asp178Glu)
| |
| X | g.71224241C>T | CA516821122 | GJB1 | c.534C>T (p.Asp178=)
| |
| X | g.71224242T>A | CA413503029 | GJB1 | c.535T>A (p.Cys179Ser)
| |
| X | g.71224242T>C | CA413503031 | GJB1 | c.535T>C (p.Cys179Arg)
| ClinVar dbSNP |
| X | g.71224242T>G | CA413503034 | GJB1 | c.535T>G (p.Cys179Gly)
| ClinVar dbSNP |
| X | g.71224242T= | CA2436388439 | GJB1 | c.535T= (p.Cys179=)
| |
| X | g.71224243G>A | CA341605 | GJB1 | c.536G>A (p.Cys179Tyr)
| ClinVar dbSNP |
| X | g.71224243G>C | CA413503038 | GJB1 | c.536G>C (p.Cys179Ser)
| |
| X | g.71224243G= | CA2436388440 | GJB1 | c.536G= (p.Cys179=)
| |
| X | g.71224243G>T | CA413503041 | GJB1 | c.536G>T (p.Cys179Phe)
| |
| X | g.71224244C>A | CA413503044 | GJB1 | c.537C>A (p.Cys179Ter)
| gnomAD v3 gnomAD v4 |
| X | g.71224244C= | CA2436388441 | GJB1 | c.537C= (p.Cys179=)
| |
| X | g.71224244C>G | CA413503047 | GJB1 | c.537C>G (p.Cys179Trp)
| |
| X | g.71224244C>T | CA516821127 | GJB1 | c.537C>T (p.Cys179=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224245T>A | CA413503050 | GJB1 | c.538T>A (p.Phe180Ile)
| |
| X | g.71224245T>C | CA413503052 | GJB1 | c.538T>C (p.Phe180Leu)
| ClinVar dbSNP |
| X | g.71224245T>G | CA413503055 | GJB1 | c.538T>G (p.Phe180Val)
| |
| X | g.71224245T= | CA2436388442 | GJB1 | c.538T= (p.Phe180=)
| |
| X | g.71224246T>A | CA413503060 | GJB1 | c.539T>A (p.Phe180Tyr)
| gnomAD v3 gnomAD v4 |
| X | g.71224246T>C | CA413503057 | GJB1 | c.539T>C (p.Phe180Ser)
| ClinVar dbSNP |
| X | g.71224246T>G | CA413503059 | GJB1 | c.539T>G (p.Phe180Cys)
| |
| X | g.71224246T= | CA2436388443 | GJB1 | c.539T= (p.Phe180=)
| |
| X | g.71224247C>A | CA413503063 | GJB1 | c.540C>A (p.Phe180Leu)
| gnomAD v4 |
| X | g.71224247C= | CA2436388444 | GJB1 | c.540C= (p.Phe180=)
| |
| X | g.71224247C>G | CA413503066 | GJB1 | c.540C>G (p.Phe180Leu)
| ClinVar dbSNP |
| X | g.71224247C>T | CA10445313 | GJB1 | c.540C>T (p.Phe180=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224248G>A | CA10584643 | GJB1 | c.541G>A (p.Val181Met)
| ClinVar dbSNP |
| X | g.71224248G>C | CA413503072 | GJB1 | c.541G>C (p.Val181Leu)
| ClinVar dbSNP |
| X | g.71224248G= | CA2436388445 | GJB1 | c.541G= (p.Val181=)
| |
| X | g.71224248G>T | CA16616539 | GJB1 | c.541G>T (p.Val181Leu)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224249T>A | CA10577659 | GJB1 | c.542T>A (p.Val181Glu)
| ClinVar dbSNP |
| X | g.71224249T>C | CA413503078 | GJB1 | c.542T>C (p.Val181Ala)
| ClinVar dbSNP |
| X | g.71224249T>G | CA413503080 | GJB1 | c.542T>G (p.Val181Gly)
| |
| X | g.71224249T= | CA2436388446 | GJB1 | c.542T= (p.Val181=)
| |
| X | g.71224249_71224254del | CA1134115392 | GJB1 | c.542_547del (p.Val181_Arg183delinsGly)
| gnomAD v3 gnomAD v4 |
| X | g.71224250G>A | CA516821139 | GJB1 | c.543G>A (p.Val181=)
| |
| X | g.71224250G>C | CA516821138 | GJB1 | c.543G>C (p.Val181=)
| |
| X | g.71224250G>T | CA516821136 | GJB1 | c.543G>T (p.Val181=)
| |
| X | g.71224251T>A | CA413503088 | GJB1 | c.544T>A (p.Ser182Thr)
| ClinVar dbSNP |
| X | g.71224251T>C | CA413503089 | GJB1 | c.544T>C (p.Ser182Pro)
| |
| X | g.71224251T>G | CA413503093 | GJB1 | c.544T>G (p.Ser182Ala)
| |
| X | g.71224251T= | CA2436388447 | GJB1 | c.544T= (p.Ser182=)
| |
| X | g.71224252C>A | CA413503100 | GJB1 | c.545C>A (p.Ser182Tyr)
| gnomAD v4 |
| X | g.71224252C= | CA2436388448 | GJB1 | c.545C= (p.Ser182=)
| |
| X | g.71224252C>G | CA413503098 | GJB1 | c.545C>G (p.Ser182Cys)
| ClinVar dbSNP |
| X | g.71224252C>T | CA413503096 | GJB1 | c.545C>T (p.Ser182Phe)
| ClinVar dbSNP |
| X | g.71224254del | CA2694032256 | GJB1 | c.547del (p.Arg183AlafsTer13)
| gnomAD v4 |
| X | g.71224253C>A | CA516821146 | GJB1 | c.546C>A (p.Ser182=)
| gnomAD v4 |
| X | g.71224253C= | CA2436388449 | GJB1 | c.546C= (p.Ser182=)
| |
| X | g.71224253C>G | CA516821147 | GJB1 | c.546C>G (p.Ser182=)
| |
| X | g.71224253C>T | CA10445314 | GJB1 | c.546C>T (p.Ser182=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224254C>A | CA413503107 | GJB1 | c.547C>A (p.Arg183Ser)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224254C= | CA2436388450 | GJB1 | c.547C= (p.Arg183=)
| |
| X | g.71224254C>G | CA413503106 | GJB1 | c.547C>G (p.Arg183Gly)
| |
| X | g.71224254C>T | CA336920 | GJB1 | c.547C>T (p.Arg183Cys)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224254_71224255delinsTT | CA2695234570 | GJB1 | c.547_548delinsTT (p.Arg183Phe)
| |
| X | g.71224255G>A | CA413503111 | GJB1 | c.548G>A (p.Arg183His)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224255G>C | CA413503117 | GJB1 | c.548G>C (p.Arg183Pro)
| ClinVar dbSNP |
| X | g.71224255G= | CA2436388451 | GJB1 | c.548G= (p.Arg183=)
| |
| X | g.71224255G>T | CA413503114 | GJB1 | c.548G>T (p.Arg183Leu)
| gnomAD v4 |
| X | g.71224256C>A | CA516821153 | GJB1 | c.549C>A (p.Arg183=)
| gnomAD v4 |
| X | g.71224256C>G | CA516821155 | GJB1 | c.549C>G (p.Arg183=)
| gnomAD v3 gnomAD v4 |
| X | g.71224256C>T | CA516821156 | GJB1 | c.549C>T (p.Arg183=)
| gnomAD v4 |
| X | g.71224259del | CA2695234571 | GJB1 | c.552del (p.Thr185ProfsTer11)
| |
| X | g.71224256_71224257insG | CA1134115405 | GJB1 | c.549_550insG (p.Pro184AlafsTer?)
| gnomAD v3 gnomAD v4 |
| X | g.71224257C>A | CA413503119 | GJB1 | c.550C>A (p.Pro184Thr)
| gnomAD v3 gnomAD v4 |
| X | g.71224257C>G | CA413503125 | GJB1 | c.550C>G (p.Pro184Ala)
| gnomAD v4 |
| X | g.71224257C>T | CA413503122 | GJB1 | c.550C>T (p.Pro184Ser)
| |
| X | g.71224257_71224260delinsCCCA | CA2436388452 | GJB1 | c.550_553delinsCCCA (p.Pro184=)
| |
| X | g.71224258C>A | CA413503129 | GJB1 | c.551C>A (p.Pro184His)
| gnomAD v4 |
| X | g.71224258C= | CA2436388453 | GJB1 | c.551C= (p.Pro184=)
| |
| X | g.71224258C>G | CA413503130 | GJB1 | c.551C>G (p.Pro184Arg)
| ClinVar dbSNP |
| X | g.71224258C>T | CA413503133 | GJB1 | c.551C>T (p.Pro184Leu)
| |
| X | g.71224260_71224262del | CA915951210 | GJB1 | c.553_555del (p.Thr185del)
| ClinVar dbSNP |
| X | g.71224259C>A | CA516821159 | GJB1 | c.552C>A (p.Pro184=)
| gnomAD v4 |
| X | g.71224259C>G | CA516821161 | GJB1 | c.552C>G (p.Pro184=)
| |
| X | g.71224259C>T | CA516821162 | GJB1 | c.552C>T (p.Pro184=)
| gnomAD v4 |
| X | g.71224260A>C | CA413503138 | GJB1 | c.553A>C (p.Thr185Pro)
| |
| X | g.71224260A>G | CA413503140 | GJB1 | c.553A>G (p.Thr185Ala)
| |
| X | g.71224260A>T | CA413503142 | GJB1 | c.553A>T (p.Thr185Ser)
| |
| X | g.71224261C>A | CA413503145 | GJB1 | c.554C>A (p.Thr185Asn)
| |
| X | g.71224261C>G | CA413503148 | GJB1 | c.554C>G (p.Thr185Ser)
| |
| X | g.71224261C>T | CA413503150 | GJB1 | c.554C>T (p.Thr185Ile)
| ClinVar gnomAD v4 |
| X | g.71224262C>A | CA516821169 | GJB1 | c.555C>A (p.Thr185=)
| gnomAD v4 COSMIC |
| X | g.71224262C= | CA2436388454 | GJB1 | c.555C= (p.Thr185=)
| |
| X | g.71224262C>G | CA516821170 | GJB1 | c.555C>G (p.Thr185=)
| |
| X | g.71224262C>T | CA516821171 | GJB1 | c.555C>T (p.Thr185=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224263G>A | CA341609 | GJB1 | c.556G>A (p.Glu186Lys)
| ClinVar dbSNP |
| X | g.71224263G>C | CA413503153 | GJB1 | c.556G>C (p.Glu186Gln)
| |
| X | g.71224263G= | CA2436388455 | GJB1 | c.556G= (p.Glu186=)
| |
| X | g.71224263G>T | CA10577663 | GJB1 | c.556G>T (p.Glu186Ter)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224263dup | CA915951211 | GJB1 | c.556dup (p.Glu186GlyfsTer?)
| ClinVar dbSNP |
| X | g.71224264A= | CA2436388456 | GJB1 | c.557A= (p.Glu186=)
| |
| X | g.71224264A>C | CA413503161 | GJB1 | c.557A>C (p.Glu186Ala)
| |
| X | g.71224264A>G | CA413503159 | GJB1 | c.557A>G (p.Glu186Gly)
| |
| X | g.71224264A>T | CA413503158 | GJB1 | c.557A>T (p.Glu186Val)
| ClinVar dbSNP |
| X | g.71224265G>A | CA516821177 | GJB1 | c.558G>A (p.Glu186=)
| |
| X | g.71224265G>C | CA413503162 | GJB1 | c.558G>C (p.Glu186Asp)
| |
| X | g.71224265G>T | CA413503164 | GJB1 | c.558G>T (p.Glu186Asp)
| gnomAD v4 |
| X | g.71224266A= | CA2436388457 | GJB1 | c.559A= (p.Lys187=)
| |
| X | g.71224266A>C | CA413503166 | GJB1 | c.559A>C (p.Lys187Gln)
| |
| X | g.71224266A>G | CA413503167 | GJB1 | c.559A>G (p.Lys187Glu)
| ClinVar dbSNP |
| X | g.71224266A>T | CA413503169 | GJB1 | c.559A>T (p.Lys187Ter)
| |
| X | g.71224269dup | CA2580101383 | GJB1 | c.562dup (p.Thr188AsnfsTer?)
| ClinVar |
| X | g.71224267A>C | CA413503170 | GJB1 | c.560A>C (p.Lys187Thr)
| |
| X | g.71224267A>G | CA413503171 | GJB1 | c.560A>G (p.Lys187Arg)
| |
| X | g.71224267A>T | CA413503172 | GJB1 | c.560A>T (p.Lys187Ile)
| |
| X | g.71224268A>C | CA413503173 | GJB1 | c.561A>C (p.Lys187Asn)
| |
| X | g.71224268A>G | CA516821182 | GJB1 | c.561A>G (p.Lys187=)
| |
| X | g.71224268A>T | CA413503174 | GJB1 | c.561A>T (p.Lys187Asn)
| |
| X | g.71224268_71224276dup | CA2695234572 | GJB1 | c.561_569dup (p.Val189_Phe190insLeuThrVal)
| |
| X | g.71224268_71224277delinsAACCGTCTTC | CA2436388458 | GJB1 | c.561_570delinsAACCGTCTTC (p.Lys187=)
| |
| X | g.71224269A>C | CA413503178 | GJB1 | c.562A>C (p.Thr188Pro)
| |
| X | g.71224269A>G | CA413503177 | GJB1 | c.562A>G (p.Thr188Ala)
| |
| X | g.71224269A>T | CA413503176 | GJB1 | c.562A>T (p.Thr188Ser)
| |
| X | g.71224279_71224287dup | CA341612 | GJB1 | c.572_580dup (p.Phe193_Met194insThrValPhe)
| ClinVar dbSNP |
| X | g.71224279_71224287del | CA16616547 | GJB1 | c.572_580del (p.Thr191_Phe193del)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224270C>A | CA413503180 | GJB1 | c.563C>A (p.Thr188Asn)
| |
| X | g.71224270C>G | CA413503182 | GJB1 | c.563C>G (p.Thr188Ser)
| |
| X | g.71224270C>T | CA413503183 | GJB1 | c.563C>T (p.Thr188Ile)
| |
| X | g.71224271C>A | CA516820920 | GJB1 | c.564C>A (p.Thr188=)
| |
| X | g.71224271C= | CA2436388459 | GJB1 | c.564C= (p.Thr188=)
| |
| X | g.71224271C>G | CA516820921 | GJB1 | c.564C>G (p.Thr188=)
| ClinVar |
| X | g.71224271C>T | CA10445315 | GJB1 | c.564C>T (p.Thr188=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.71224272G>A | CA10445316 | GJB1 | c.565G>A (p.Val189Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.71224272G>C | CA413503188 | GJB1 | c.565G>C (p.Val189Leu)
| |
| X | g.71224272G= | CA2436388460 | GJB1 | c.565G= (p.Val189=)
| |
| X | g.71224272G>T | CA413503189 | GJB1 | c.565G>T (p.Val189Phe)
| gnomAD v4 |
| X | g.71224273T>A | CA413503190 | GJB1 | c.566T>A (p.Val189Asp)
| |
| X | g.71224273T>C | CA413503192 | GJB1 | c.566T>C (p.Val189Ala)
| ClinVar |
| X | g.71224273T>G | CA16621493 | GJB1 | c.566T>G (p.Val189Gly)
| ClinVar dbSNP |
| X | g.71224273T= | CA2436388461 | GJB1 | c.566T= (p.Val189=)
| |
| X | g.71224274C>A | CA516820926 | GJB1 | c.567C>A (p.Val189=)
| |
| X | g.71224274C>G | CA516820927 | GJB1 | c.567C>G (p.Val189=)
| |
| X | g.71224274C>T | CA516820929 | GJB1 | c.567C>T (p.Val189=)
| |
| X | g.71224275T>A | CA413503195 | GJB1 | c.568T>A (p.Phe190Ile)
| |
| X | g.71224275T>C | CA413503196 | GJB1 | c.568T>C (p.Phe190Leu)
| |
| X | g.71224275T>G | CA413503197 | GJB1 | c.568T>G (p.Phe190Val)
| |
| X | g.71224275T= | CA2436388462 | GJB1 | c.568T= (p.Phe190=)
| |
| X | g.71224276T>A | CA413503200 | GJB1 | c.569T>A (p.Phe190Tyr)
| |
| X | g.71224276T>C | CA413503199 | GJB1 | c.569T>C (p.Phe190Ser)
| |
| X | g.71224276T>G | CA413503198 | GJB1 | c.569T>G (p.Phe190Cys)
| |
| X | g.71224276_71224278dup | CA891844222 | GJB1 | c.569_571dup (p.Phe190_Thr191insIle)
| ClinVar dbSNP |
| X | g.71224277C>A | CA413503201 | GJB1 | c.570C>A (p.Phe190Leu)
| |
| X | g.71224277C= | CA2436388463 | GJB1 | c.570C= (p.Phe190=)
| |
| X | g.71224277C>G | CA413503202 | GJB1 | c.570C>G (p.Phe190Leu)
| |
| X | g.71224277C>T | CA516820934 | GJB1 | c.570C>T (p.Phe190=)
| |
| X | g.71224278A= | CA2436388464 | GJB1 | c.571A= (p.Thr191=)
| |
| X | g.71224278A>C | CA413503203 | GJB1 | c.571A>C (p.Thr191Pro)
| |
| X | g.71224278A>G | CA413503204 | GJB1 | c.571A>G (p.Thr191Ala)
| ClinVar dbSNP |
| X | g.71224278A>T | CA413503205 | GJB1 | c.571A>T (p.Thr191Ser)
| ClinVar dbSNP COSMIC |
| X | g.71224278dup | CA915951212 | GJB1 | c.571dup (p.Thr191AsnfsTer?)
| ClinVar dbSNP |
| X | g.71224279C>A | CA413503206 | GJB1 | c.572C>A (p.Thr191Asn)
| ClinVar |
| X | g.71224279C>G | CA413503207 | GJB1 | c.572C>G (p.Thr191Ser)
| |
| X | g.71224279C>T | CA413503208 | GJB1 | c.572C>T (p.Thr191Ile)
| gnomAD v4 |
| X | g.71224280C>A | CA516820935 | GJB1 | c.573C>A (p.Thr191=)
| gnomAD v4 |
| X | g.71224280C= | CA2436388465 | GJB1 | c.573C= (p.Thr191=)
| |
| X | g.71224280C>G | CA10445317 | GJB1 | c.573C>G (p.Thr191=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224280C>T | CA10445318 | GJB1 | c.573C>T (p.Thr191=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224280_71224288del | CA2695234573 | GJB1 | c.573_581del (p.Val192_Met194del)
| |
| X | g.71224280_71224281insTCA | CA915951213 | GJB1 | c.573_574insTCA (p.Thr191_Val192insSer)
| ClinVar dbSNP |
| X | g.71224281G>A | CA10445319 | GJB1 | c.574G>A (p.Val192Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224281G>C | CA413503210 | GJB1 | c.574G>C (p.Val192Leu)
| |
| X | g.71224281G= | CA2436388466 | GJB1 | c.574G= (p.Val192=)
| |
| X | g.71224281G>T | CA413503209 | GJB1 | c.574G>T (p.Val192Phe)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224282T>A | CA413503211 | GJB1 | c.575T>A (p.Val192Asp)
| |
| X | g.71224282T>C | CA413503213 | GJB1 | c.575T>C (p.Val192Ala)
| |
| X | g.71224282T>G | CA413503212 | GJB1 | c.575T>G (p.Val192Gly)
| |
| X | g.71224282_71224283delinsTC | CA2436388467 | GJB1 | c.575_576delinsTC (p.Val192=)
| |
| X | g.71224283del | CA915951214 | GJB1 | c.576del (p.Phe193SerfsTer3)
| ClinVar dbSNP |
| X | g.71224283C>A | CA516820937 | GJB1 | c.576C>A (p.Val192=)
| |
| X | g.71224283C>G | CA516820938 | GJB1 | c.576C>G (p.Val192=)
| |
| X | g.71224283C>T | CA516820939 | GJB1 | c.576C>T (p.Val192=)
| |
| X | g.71224284T>A | CA413503214 | GJB1 | c.577T>A (p.Phe193Ile)
| |
| X | g.71224284T>C | CA413503215 | GJB1 | c.577T>C (p.Phe193Leu)
| ClinVar |
| X | g.71224284T>G | CA413503216 | GJB1 | c.577T>G (p.Phe193Val)
| |
| X | g.71224285T>A | CA413503217 | GJB1 | c.578T>A (p.Phe193Tyr)
| |
| X | g.71224285T>C | CA413503218 | GJB1 | c.578T>C (p.Phe193Ser)
| |
| X | g.71224285T>G | CA413503219 | GJB1 | c.578T>G (p.Phe193Cys)
| ClinVar dbSNP |
| X | g.71224285T= | CA2436388468 | GJB1 | c.578T= (p.Phe193=)
| |
| X | g.71224286C>A | CA413503220 | GJB1 | c.579C>A (p.Phe193Leu)
| |
| X | g.71224286C= | CA2436388469 | GJB1 | c.579C= (p.Phe193=)
| |
| X | g.71224286C>G | CA413503221 | GJB1 | c.579C>G (p.Phe193Leu)
| ClinVar dbSNP COSMIC |
| X | g.71224286C>T | CA516820940 | GJB1 | c.579C>T (p.Phe193=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224287A= | CA2436388470 | GJB1 | c.580A= (p.Met194=)
| |
| X | g.71224287A>C | CA413503222 | GJB1 | c.580A>C (p.Met194Leu)
| ClinVar |
| X | g.71224287A>G | CA270643 | GJB1 | c.580A>G (p.Met194Val)
| ClinVar dbSNP |
| X | g.71224287A>T | CA413503223 | GJB1 | c.580A>T (p.Met194Leu)
| |
| X | g.71224288T>A | CA413503226 | GJB1 | c.581T>A (p.Met194Lys)
| |
| X | g.71224288T>C | CA413503225 | GJB1 | c.581T>C (p.Met194Thr)
| |
| X | g.71224288T>G | CA413503224 | GJB1 | c.581T>G (p.Met194Arg)
| |
| X | g.71224289G>A | CA413503227 | GJB1 | c.582G>A (p.Met194Ile)
| |
| X | g.71224289G>C | CA413503228 | GJB1 | c.582G>C (p.Met194Ile)
| |
| X | g.71224289G>T | CA413503229 | GJB1 | c.582G>T (p.Met194Ile)
| gnomAD v4 |
| X | g.71224290C>A | CA413503230 | GJB1 | c.583C>A (p.Leu195Ile)
| |
| X | g.71224290C>G | CA413503231 | GJB1 | c.583C>G (p.Leu195Val)
| |
| X | g.71224290C>T | CA516820945 | GJB1 | c.583C>T (p.Leu195=)
| |
| X | g.71224291T>A | CA413503232 | GJB1 | c.584T>A (p.Leu195Gln)
| ClinVar dbSNP |
| X | g.71224291T>C | CA413503233 | GJB1 | c.584T>C (p.Leu195Pro)
| ClinVar dbSNP |
| X | g.71224291T>G | CA413503234 | GJB1 | c.584T>G (p.Leu195Arg)
| |
| X | g.71224291T= | CA2436388471 | GJB1 | c.584T= (p.Leu195=)
| |
| X | g.71224292A= | CA2436388472 | GJB1 | c.585A= (p.Leu195=)
| |
| X | g.71224292A>C | CA516820949 | GJB1 | c.585A>C (p.Leu195=)
| dbSNP |
| X | g.71224292A>G | CA516820947 | GJB1 | c.585A>G (p.Leu195=)
| |
| X | g.71224292A>T | CA516820948 | GJB1 | c.585A>T (p.Leu195=)
| |
| X | g.71224293G>A | CA413503235 | GJB1 | c.586G>A (p.Ala196Thr)
| |
| X | g.71224293G>C | CA413503236 | GJB1 | c.586G>C (p.Ala196Pro)
| |
| X | g.71224293G>T | CA413503237 | GJB1 | c.586G>T (p.Ala196Ser)
| |
| X | g.71224294C>A | CA413503240 | GJB1 | c.587C>A (p.Ala196Asp)
| gnomAD v4 |
| X | g.71224294C>G | CA413503239 | GJB1 | c.587C>G (p.Ala196Gly)
| |
| X | g.71224294C>T | CA413503238 | GJB1 | c.587C>T (p.Ala196Val)
| |
| X | g.71224295T>A | CA516820952 | GJB1 | c.588T>A (p.Ala196=)
| dbSNP |
| X | g.71224295T>C | CA330997808 | GJB1 | c.588T>C (p.Ala196=)
| dbSNP |
| X | g.71224295T>G | CA516820951 | GJB1 | c.588T>G (p.Ala196=)
| |
| X | g.71224295T= | CA2436388473 | GJB1 | c.588T= (p.Ala196=)
| |
