| X | g.71224390C>A | CA413503521 | GJB1 | c.683C>A (p.Pro228His)
| |
| X | g.71224390C>G | CA413503523 | GJB1 | c.683C>G (p.Pro228Arg)
| |
| X | g.71224390C>T | CA413503525 | GJB1 | c.683C>T (p.Pro228Leu)
| |
| X | g.71224391T>A | CA516821131 | GJB1 | c.684T>A (p.Pro228=)
| |
| X | g.71224391T>C | CA516821132 | GJB1 | c.684T>C (p.Pro228=)
| dbSNP |
| X | g.71224391T>G | CA516821133 | GJB1 | c.684T>G (p.Pro228=)
| |
| X | g.71224391T= | CA2436388537 | GJB1 | c.684T= (p.Pro228=)
| |
| X | g.71224391_71224396del | CA2821723790 | GJB1 | c.684_689del (p.Ser229_Arg230del)
| |
| X | g.71224392T>A | CA413503527 | GJB1 | c.685T>A (p.Ser229Thr)
| |
| X | g.71224392T>C | CA413503529 | GJB1 | c.685T>C (p.Ser229Pro)
| |
| X | g.71224392T>G | CA413503531 | GJB1 | c.685T>G (p.Ser229Ala)
| |
| X | g.71224393C>A | CA413503537 | GJB1 | c.686C>A (p.Ser229Tyr)
| |
| X | g.71224393C= | CA2436388538 | GJB1 | c.686C= (p.Ser229=)
| |
| X | g.71224393C>G | CA413503535 | GJB1 | c.686C>G (p.Ser229Cys)
| dbSNP gnomAD v4 |
| X | g.71224393C>T | CA10445332 | GJB1 | c.686C>T (p.Ser229Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224395del | CA2509121782 | GJB1 | c.688del (p.Arg230AlafsTer23)
| |
| X | g.71224394C>A | CA516821140 | GJB1 | c.687C>A (p.Ser229=)
| |
| X | g.71224394C>G | CA516821142 | GJB1 | c.687C>G (p.Ser229=)
| |
| X | g.71224394C>T | CA516821143 | GJB1 | c.687C>T (p.Ser229=)
| |
| X | g.71224395C>A | CA413503541 | GJB1 | c.688C>A (p.Arg230Ser)
| |
| X | g.71224395C= | CA2436388539 | GJB1 | c.688C= (p.Arg230=)
| |
| X | g.71224395C>G | CA413503544 | GJB1 | c.688C>G (p.Arg230Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224395C>T | CA270921 | GJB1 | c.688C>T (p.Arg230Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224396G>A | CA10445333 | GJB1 | c.689G>A (p.Arg230His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224396G>C | CA413503549 | GJB1 | c.689G>C (p.Arg230Pro)
| |
| X | g.71224396G= | CA2436388540 | GJB1 | c.689G= (p.Arg230=)
| |
| X | g.71224396G>T | CA330997840 | GJB1 | c.689G>T (p.Arg230Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224397C>A | CA516821148 | GJB1 | c.690C>A (p.Arg230=)
| |
| X | g.71224397C>G | CA516821149 | GJB1 | c.690C>G (p.Arg230=)
| |
| X | g.71224397C>T | CA516821150 | GJB1 | c.690C>T (p.Arg230=)
| |
| X | g.71224398A>C | CA413503552 | GJB1 | c.691A>C (p.Lys231Gln)
| |
| X | g.71224398A>G | CA413503553 | GJB1 | c.691A>G (p.Lys231Glu)
| |
| X | g.71224398A>T | CA413503554 | GJB1 | c.691A>T (p.Lys231Ter)
| |
| X | g.71224399A>C | CA413503556 | GJB1 | c.692A>C (p.Lys231Thr)
| |
| X | g.71224399A>G | CA413503558 | GJB1 | c.692A>G (p.Lys231Arg)
| gnomAD v4 |
| X | g.71224399A>T | CA413503560 | GJB1 | c.692A>T (p.Lys231Met)
| |
| X | g.71224400G>A | CA330997842 | GJB1 | c.693G>A (p.Lys231=)
| dbSNP gnomAD v4 |
| X | g.71224400G>C | CA413503563 | GJB1 | c.693G>C (p.Lys231Asn)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224400G= | CA2436388541 | GJB1 | c.693G= (p.Lys231=)
| |
| X | g.71224400G>T | CA413503565 | GJB1 | c.693G>T (p.Lys231Asn)
| |
| X | g.71224401G>A | CA413503571 | GJB1 | c.694G>A (p.Gly232Ser)
| |
| X | g.71224401G>C | CA413503567 | GJB1 | c.694G>C (p.Gly232Arg)
| |
| X | g.71224401G>T | CA413503569 | GJB1 | c.694G>T (p.Gly232Cys)
| |
| X | g.71224402G>A | CA413503573 | GJB1 | c.695G>A (p.Gly232Asp)
| |
| X | g.71224402G>C | CA413503575 | GJB1 | c.695G>C (p.Gly232Ala)
| |
| X | g.71224402G>T | CA413503577 | GJB1 | c.695G>T (p.Gly232Val)
| gnomAD v4 |
| X | g.71224403C>A | CA516821163 | GJB1 | c.696C>A (p.Gly232=)
| |
| X | g.71224403C>G | CA516821164 | GJB1 | c.696C>G (p.Gly232=)
| |
| X | g.71224403C>T | CA516821165 | GJB1 | c.696C>T (p.Gly232=)
| COSMIC |
| X | g.71224404T>A | CA413503578 | GJB1 | c.697T>A (p.Ser233Thr)
| |
| X | g.71224404T>C | CA413503581 | GJB1 | c.697T>C (p.Ser233Pro)
| |
| X | g.71224404T>G | CA413503582 | GJB1 | c.697T>G (p.Ser233Ala)
| |
| X | g.71224405C>A | CA413503586 | GJB1 | c.698C>A (p.Ser233Ter)
| gnomAD v4 |
| X | g.71224405C= | CA2436388542 | GJB1 | c.698C= (p.Ser233=)
| |
| X | g.71224405C>G | CA413503588 | GJB1 | c.698C>G (p.Ser233Trp)
| |
| X | g.71224405C>T | CA10445334 | GJB1 | c.698C>T (p.Ser233Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.71224405_71224406insAGG | CA2579640067 | GJB1 | c.698_699insAGG (p.Ser233_Gly234insGly)
| |
| X | g.71224405_71224406insCGG | CA2436388544 | GJB1 | c.698_699insCGG (p.Ser233_Gly234insGly)
| dbSNP |
| X | g.71224406G>A | CA516821172 | GJB1 | c.699G>A (p.Ser233=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224406G>C | CA516821173 | GJB1 | c.699G>C (p.Ser233=)
| ClinVar |
| X | g.71224406G= | CA2436388543 | GJB1 | c.699G= (p.Ser233=)
| |
| X | g.71224406G>T | CA10445335 | GJB1 | c.699G>T (p.Ser233=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224406_71224408dup | CA2508788277 | GJB1 | c.699_701dup (p.Gly234_Phe235insGly)
| |
| X | g.71224407G>A | CA413503596 | GJB1 | c.700G>A (p.Gly234Ser)
| dbSNP |
| X | g.71224407G>C | CA413503599 | GJB1 | c.700G>C (p.Gly234Arg)
| |
| X | g.71224407G>T | CA413503594 | GJB1 | c.700G>T (p.Gly234Cys)
| |
| X | g.71224408G>A | CA413503602 | GJB1 | c.701G>A (p.Gly234Asp)
| |
| X | g.71224408G>C | CA413503604 | GJB1 | c.701G>C (p.Gly234Ala)
| |
| X | g.71224408G>T | CA413503606 | GJB1 | c.701G>T (p.Gly234Val)
| gnomAD v4 |
| X | g.71224409C>A | CA516821178 | GJB1 | c.702C>A (p.Gly234=)
| |
| X | g.71224409C>G | CA516821179 | GJB1 | c.702C>G (p.Gly234=)
| |
| X | g.71224409C>T | CA516821180 | GJB1 | c.702C>T (p.Gly234=)
| ClinVar |
| X | g.71224410T>A | CA413503609 | GJB1 | c.703T>A (p.Phe235Ile)
| |
| X | g.71224410T>C | CA413503610 | GJB1 | c.703T>C (p.Phe235Leu)
| |
| X | g.71224410T>G | CA413503612 | GJB1 | c.703T>G (p.Phe235Val)
| |
| X | g.71224411T>A | CA413503614 | GJB1 | c.704T>A (p.Phe235Tyr)
| |
| X | g.71224411T>C | CA413503616 | GJB1 | c.704T>C (p.Phe235Ser)
| |
| X | g.71224411T>G | CA340976 | GJB1 | c.704T>G (p.Phe235Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224411T= | CA2436388545 | GJB1 | c.704T= (p.Phe235=)
| |
| X | g.71224412C>A | CA413503620 | GJB1 | c.705C>A (p.Phe235Leu)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224412C= | CA2436388546 | GJB1 | c.705C= (p.Phe235=)
| |
| X | g.71224412C>G | CA413503623 | GJB1 | c.705C>G (p.Phe235Leu)
| |
| X | g.71224412C>T | CA10445336 | GJB1 | c.705C>T (p.Phe235=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224413G>A | CA413503628 | GJB1 | c.706G>A (p.Gly236Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224413G>C | CA413503631 | GJB1 | c.706G>C (p.Gly236Arg)
| |
| X | g.71224413G= | CA2436388547 | GJB1 | c.706G= (p.Gly236=)
| |
| X | g.71224413G>T | CA413503627 | GJB1 | c.706G>T (p.Gly236Cys)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224414G>A | CA413503633 | GJB1 | c.707G>A (p.Gly236Asp)
| |
| X | g.71224414G>C | CA413503635 | GJB1 | c.707G>C (p.Gly236Ala)
| |
| X | g.71224414G>T | CA413503637 | GJB1 | c.707G>T (p.Gly236Val)
| |
| X | g.71224415C>A | CA516821184 | GJB1 | c.708C>A (p.Gly236=)
| gnomAD v4 |
| X | g.71224415C= | CA2436388548 | GJB1 | c.708C= (p.Gly236=)
| |
| X | g.71224415C>G | CA516821185 | GJB1 | c.708C>G (p.Gly236=)
| |
| X | g.71224415C>T | CA516821186 | GJB1 | c.708C>T (p.Gly236=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224416C>A | CA413503639 | GJB1 | c.709C>A (p.His237Asn)
| |
| X | g.71224416C>G | CA413503642 | GJB1 | c.709C>G (p.His237Asp)
| |
| X | g.71224416C>T | CA413503644 | GJB1 | c.709C>T (p.His237Tyr)
| gnomAD v4 |
| X | g.71224417A>C | CA413503647 | GJB1 | c.710A>C (p.His237Pro)
| |
| X | g.71224417A>G | CA413503650 | GJB1 | c.710A>G (p.His237Arg)
| |
| X | g.71224417A>T | CA413503648 | GJB1 | c.710A>T (p.His237Leu)
| |
| X | g.71224418C>A | CA413503652 | GJB1 | c.711C>A (p.His237Gln)
| |
| X | g.71224418C>G | CA413503654 | GJB1 | c.711C>G (p.His237Gln)
| gnomAD v4 |
| X | g.71224418C>T | CA516821189 | GJB1 | c.711C>T (p.His237=)
| ClinVar gnomAD v4 |
| X | g.71224419C>A | CA413503656 | GJB1 | c.712C>A (p.Arg238Ser)
| gnomAD v4 |
| X | g.71224419C= | CA2436388549 | GJB1 | c.712C= (p.Arg238=)
| |
| X | g.71224419C>G | CA413503658 | GJB1 | c.712C>G (p.Arg238Gly)
| |
| X | g.71224419C>T | CA10445337 | GJB1 | c.712C>T (p.Arg238Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224420G>A | CA10445338 | GJB1 | c.713G>A (p.Arg238His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224420G>C | CA413503666 | GJB1 | c.713G>C (p.Arg238Pro)
| |
| X | g.71224420G= | CA2436388550 | GJB1 | c.713G= (p.Arg238=)
| |
| X | g.71224420G>T | CA413503663 | GJB1 | c.713G>T (p.Arg238Leu)
| ClinVar dbSNP |
| X | g.71224421C>A | CA516821193 | GJB1 | c.714C>A (p.Arg238=)
| |
| X | g.71224421C>G | CA516821192 | GJB1 | c.714C>G (p.Arg238=)
| |
| X | g.71224421C>T | CA516821191 | GJB1 | c.714C>T (p.Arg238=)
| |
| X | g.71224422C>A | CA413503669 | GJB1 | c.715C>A (p.Leu239Ile)
| ClinVar dbSNP |
| X | g.71224422C= | CA2436388551 | GJB1 | c.715C= (p.Leu239=)
| |
| X | g.71224422C>G | CA413503668 | GJB1 | c.715C>G (p.Leu239Val)
| |
| X | g.71224422C>T | CA413503670 | GJB1 | c.715C>T (p.Leu239Phe)
| gnomAD v4 |
| X | g.71224423T>A | CA413503674 | GJB1 | c.716T>A (p.Leu239His)
| |
| X | g.71224423T>C | CA10445339 | GJB1 | c.716T>C (p.Leu239Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224423T>G | CA413503678 | GJB1 | c.716T>G (p.Leu239Arg)
| |
| X | g.71224423T= | CA2436388552 | GJB1 | c.716T= (p.Leu239=)
| |
| X | g.71224424C>A | CA516821198 | GJB1 | c.717C>A (p.Leu239=)
| |
| X | g.71224424C>G | CA516821196 | GJB1 | c.717C>G (p.Leu239=)
| ClinVar dbSNP |
| X | g.71224424C>T | CA516821194 | GJB1 | c.717C>T (p.Leu239=)
| |
| X | g.71224425T>A | CA413503681 | GJB1 | c.718T>A (p.Ser240Thr)
| |
| X | g.71224425T>C | CA413503685 | GJB1 | c.718T>C (p.Ser240Pro)
| |
| X | g.71224425T>G | CA413503687 | GJB1 | c.718T>G (p.Ser240Ala)
| |
| X | g.71224426C>A | CA413503692 | GJB1 | c.719C>A (p.Ser240Ter)
| |
| X | g.71224426C>G | CA413503698 | GJB1 | c.719C>G (p.Ser240Ter)
| |
| X | g.71224426C>T | CA413503701 | GJB1 | c.719C>T (p.Ser240Leu)
| ClinVar dbSNP |
| X | g.71224427A= | CA2436388553 | GJB1 | c.720A= (p.Ser240=)
| |
| X | g.71224427A>C | CA516821200 | GJB1 | c.720A>C (p.Ser240=)
| |
| X | g.71224427A>G | CA516821203 | GJB1 | c.720A>G (p.Ser240=)
| dbSNP |
| X | g.71224427A>T | CA516821201 | GJB1 | c.720A>T (p.Ser240=)
| |
| X | g.71224428C>A | CA413503705 | GJB1 | c.721C>A (p.Pro241Thr)
| |
| X | g.71224428C>G | CA413503707 | GJB1 | c.721C>G (p.Pro241Ala)
| |
| X | g.71224428C>T | CA413503710 | GJB1 | c.721C>T (p.Pro241Ser)
| |
| X | g.71224429C>A | CA413503720 | GJB1 | c.722C>A (p.Pro241His)
| |
| X | g.71224429C>G | CA413503715 | GJB1 | c.722C>G (p.Pro241Arg)
| |
| X | g.71224429C>T | CA413503717 | GJB1 | c.722C>T (p.Pro241Leu)
| |
| X | g.71224430T>A | CA516821204 | GJB1 | c.723T>A (p.Pro241=)
| |
| X | g.71224430T>C | CA516821205 | GJB1 | c.723T>C (p.Pro241=)
| |
| X | g.71224430T>G | CA516821207 | GJB1 | c.723T>G (p.Pro241=)
| |
| X | g.71224431G>A | CA413503725 | GJB1 | c.724G>A (p.Glu242Lys)
| |
| X | g.71224431G>C | CA413503727 | GJB1 | c.724G>C (p.Glu242Gln)
| |
| X | g.71224431G>T | CA413503730 | GJB1 | c.724G>T (p.Glu242Ter)
| |
| X | g.71224432A>C | CA413503733 | GJB1 | c.725A>C (p.Glu242Ala)
| |
| X | g.71224432A>G | CA413503736 | GJB1 | c.725A>G (p.Glu242Gly)
| |
| X | g.71224432A>T | CA413503740 | GJB1 | c.725A>T (p.Glu242Val)
| |
| X | g.71224433A>C | CA413503744 | GJB1 | c.726A>C (p.Glu242Asp)
| |
| X | g.71224433A>G | CA516821208 | GJB1 | c.726A>G (p.Glu242=)
| |
| X | g.71224433A>T | CA413503746 | GJB1 | c.726A>T (p.Glu242Asp)
| |
| X | g.71224434T>A | CA413503750 | GJB1 | c.727T>A (p.Tyr243Asn)
| |
| X | g.71224434T>C | CA413503753 | GJB1 | c.727T>C (p.Tyr243His)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224434T>G | CA413503754 | GJB1 | c.727T>G (p.Tyr243Asp)
| |
| X | g.71224434T= | CA2436388554 | GJB1 | c.727T= (p.Tyr243=)
| |
| X | g.71224435A>C | CA413503762 | GJB1 | c.728A>C (p.Tyr243Ser)
| |
| X | g.71224435A>G | CA413503765 | GJB1 | c.728A>G (p.Tyr243Cys)
| ClinVar dbSNP |
| X | g.71224435A>T | CA413503758 | GJB1 | c.728A>T (p.Tyr243Phe)
| |
| X | g.71224436C>A | CA413503768 | GJB1 | c.729C>A (p.Tyr243Ter)
| |
| X | g.71224436C>G | CA413503771 | GJB1 | c.729C>G (p.Tyr243Ter)
| |
| X | g.71224436C>T | CA516821210 | GJB1 | c.729C>T (p.Tyr243=)
| |
| X | g.71224437A>C | CA413503774 | GJB1 | c.730A>C (p.Lys244Gln)
| gnomAD v4 |
| X | g.71224437A>G | CA413503777 | GJB1 | c.730A>G (p.Lys244Glu)
| |
| X | g.71224437A>T | CA413503778 | GJB1 | c.730A>T (p.Lys244Ter)
| |
| X | g.71224438A>C | CA413503782 | GJB1 | c.731A>C (p.Lys244Thr)
| |
| X | g.71224438A>G | CA413503784 | GJB1 | c.731A>G (p.Lys244Arg)
| |
| X | g.71224438A>T | CA413503787 | GJB1 | c.731A>T (p.Lys244Met)
| |
| X | g.71224439G>A | CA516821214 | GJB1 | c.732G>A (p.Lys244=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224439G>C | CA413503792 | GJB1 | c.732G>C (p.Lys244Asn)
| |
| X | g.71224439G= | CA2436388555 | GJB1 | c.732G= (p.Lys244=)
| |
| X | g.71224439G>T | CA413503794 | GJB1 | c.732G>T (p.Lys244Asn)
| |
| X | g.71224440C>A | CA413503798 | GJB1 | c.733C>A (p.Gln245Lys)
| |
| X | g.71224440C>G | CA413503800 | GJB1 | c.733C>G (p.Gln245Glu)
| |
| X | g.71224440C>T | CA413503804 | GJB1 | c.733C>T (p.Gln245Ter)
| |
| X | g.71224441A>C | CA413503811 | GJB1 | c.734A>C (p.Gln245Pro)
| |
| X | g.71224441A>G | CA413503810 | GJB1 | c.734A>G (p.Gln245Arg)
| |
| X | g.71224441A>T | CA413503807 | GJB1 | c.734A>T (p.Gln245Leu)
| |
| X | g.71224442G>A | CA516821218 | GJB1 | c.735G>A (p.Gln245=)
| |
| X | g.71224442G>C | CA413503814 | GJB1 | c.735G>C (p.Gln245His)
| |
| X | g.71224442G>T | CA413503817 | GJB1 | c.735G>T (p.Gln245His)
| |
| X | g.71224443A>C | CA413503820 | GJB1 | c.736A>C (p.Asn246His)
| |
| X | g.71224443A>G | CA413503822 | GJB1 | c.736A>G (p.Asn246Asp)
| ClinVar |
| X | g.71224443A>T | CA413503825 | GJB1 | c.736A>T (p.Asn246Tyr)
| |
| X | g.71224444A>C | CA413503829 | GJB1 | c.737A>C (p.Asn246Thr)
| |
| X | g.71224444A>G | CA413503833 | GJB1 | c.737A>G (p.Asn246Ser)
| |
| X | g.71224444A>T | CA413503836 | GJB1 | c.737A>T (p.Asn246Ile)
| |
| X | g.71224445T>A | CA413503839 | GJB1 | c.738T>A (p.Asn246Lys)
| |
| X | g.71224445T>C | CA516821220 | GJB1 | c.738T>C (p.Asn246=)
| |
| X | g.71224445T>G | CA413503841 | GJB1 | c.738T>G (p.Asn246Lys)
| gnomAD v4 |
| X | g.71224446G>A | CA413503844 | GJB1 | c.739G>A (p.Glu247Lys)
| |
| X | g.71224446G>C | CA413503847 | GJB1 | c.739G>C (p.Glu247Gln)
| |
| X | g.71224446G>T | CA413503850 | GJB1 | c.739G>T (p.Glu247Ter)
| |
| X | g.71224447A>C | CA413503859 | GJB1 | c.740A>C (p.Glu247Ala)
| |
| X | g.71224447A>G | CA413503857 | GJB1 | c.740A>G (p.Glu247Gly)
| |
| X | g.71224447A>T | CA413503853 | GJB1 | c.740A>T (p.Glu247Val)
| |
| X | g.71224448G>A | CA516821223 | GJB1 | c.741G>A (p.Glu247=)
| |
| X | g.71224448G>C | CA413503864 | GJB1 | c.741G>C (p.Glu247Asp)
| |
| X | g.71224448G>T | CA413503868 | GJB1 | c.741G>T (p.Glu247Asp)
| |
| X | g.71224449A>C | CA413503871 | GJB1 | c.742A>C (p.Ile248Leu)
| |
| X | g.71224449A>G | CA413503881 | GJB1 | c.742A>G (p.Ile248Val)
| |
| X | g.71224449A>T | CA413503883 | GJB1 | c.742A>T (p.Ile248Phe)
| |
| X | g.71224450T>A | CA413503886 | GJB1 | c.743T>A (p.Ile248Asn)
| |
| X | g.71224450T>C | CA413503889 | GJB1 | c.743T>C (p.Ile248Thr)
| |
| X | g.71224450T>G | CA413503891 | GJB1 | c.743T>G (p.Ile248Ser)
| |
| X | g.71224451C>A | CA516821225 | GJB1 | c.744C>A (p.Ile248=)
| ClinVar dbSNP |
| X | g.71224451C>G | CA413503894 | GJB1 | c.744C>G (p.Ile248Met)
| |
| X | g.71224451C>T | CA516821226 | GJB1 | c.744C>T (p.Ile248=)
| |
| X | g.71224452A>C | CA413503897 | GJB1 | c.745A>C (p.Asn249His)
| |
| X | g.71224452A>G | CA413503900 | GJB1 | c.745A>G (p.Asn249Asp)
| |
| X | g.71224452A>T | CA413503903 | GJB1 | c.745A>T (p.Asn249Tyr)
| |
| X | g.71224453A>C | CA413503906 | GJB1 | c.746A>C (p.Asn249Thr)
| |
| X | g.71224453A>G | CA413503908 | GJB1 | c.746A>G (p.Asn249Ser)
| gnomAD v4 |
| X | g.71224453A>T | CA413503910 | GJB1 | c.746A>T (p.Asn249Ile)
| |
| X | g.71224454C>A | CA413503916 | GJB1 | c.747C>A (p.Asn249Lys)
| |
| X | g.71224454C>G | CA413503913 | GJB1 | c.747C>G (p.Asn249Lys)
| |
| X | g.71224454C>T | CA516821228 | GJB1 | c.747C>T (p.Asn249=)
| gnomAD v4 |
| X | g.71224455A>C | CA413503920 | GJB1 | c.748A>C (p.Lys250Gln)
| |
| X | g.71224455A>G | CA413503923 | GJB1 | c.748A>G (p.Lys250Glu)
| |
| X | g.71224455A>T | CA413503926 | GJB1 | c.748A>T (p.Lys250Ter)
| |
| X | g.71224456A>C | CA413503928 | GJB1 | c.749A>C (p.Lys250Thr)
| |
| X | g.71224456A>G | CA413503931 | GJB1 | c.749A>G (p.Lys250Arg)
| |
| X | g.71224456A>T | CA413503932 | GJB1 | c.749A>T (p.Lys250Met)
| |
| X | g.71224457G>A | CA516821232 | GJB1 | c.750G>A (p.Lys250=)
| |
| X | g.71224457G>C | CA413503935 | GJB1 | c.750G>C (p.Lys250Asn)
| |
| X | g.71224457G>T | CA413503938 | GJB1 | c.750G>T (p.Lys250Asn)
| |
| X | g.71224458C>A | CA413503942 | GJB1 | c.751C>A (p.Leu251Met)
| gnomAD v4 |
| X | g.71224458C= | CA2436388556 | GJB1 | c.751C= (p.Leu251=)
| |
| X | g.71224458C>G | CA413503944 | GJB1 | c.751C>G (p.Leu251Val)
| |
| X | g.71224458C>T | CA516821233 | GJB1 | c.751C>T (p.Leu251=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224459T>A | CA413503948 | GJB1 | c.752T>A (p.Leu251Gln)
| |
| X | g.71224459T>C | CA413503950 | GJB1 | c.752T>C (p.Leu251Pro)
| |
| X | g.71224459T>G | CA413503951 | GJB1 | c.752T>G (p.Leu251Arg)
| |
| X | g.71224460G>A | CA516821237 | GJB1 | c.753G>A (p.Leu251=)
| |
| X | g.71224460G>C | CA516821239 | GJB1 | c.753G>C (p.Leu251=)
| |
| X | g.71224460G>T | CA516821238 | GJB1 | c.753G>T (p.Leu251=)
| gnomAD v4 COSMIC |
| X | g.71224461C>A | CA413503956 | GJB1 | c.754C>A (p.Leu252Met)
| |
| X | g.71224461C>G | CA413503953 | GJB1 | c.754C>G (p.Leu252Val)
| |
| X | g.71224461C>T | CA516821240 | GJB1 | c.754C>T (p.Leu252=)
| |
| X | g.71224462T>A | CA413503959 | GJB1 | c.755T>A (p.Leu252Gln)
| |
| X | g.71224462T>C | CA413503964 | GJB1 | c.755T>C (p.Leu252Pro)
| gnomAD v4 |
| X | g.71224462T>G | CA413503961 | GJB1 | c.755T>G (p.Leu252Arg)
| |
| X | g.71224463G>A | CA516821241 | GJB1 | c.756G>A (p.Leu252=)
| gnomAD v4 |
| X | g.71224463G>C | CA516821243 | GJB1 | c.756G>C (p.Leu252=)
| |
| X | g.71224463G>T | CA516821244 | GJB1 | c.756G>T (p.Leu252=)
| |
| X | g.71224464A= | CA2436388557 | GJB1 | c.757A= (p.Ser253=)
| |
| X | g.71224464A>C | CA413503967 | GJB1 | c.757A>C (p.Ser253Arg)
| |
| X | g.71224464A>G | CA413503968 | GJB1 | c.757A>G (p.Ser253Gly)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224464A>T | CA413503969 | GJB1 | c.757A>T (p.Ser253Cys)
| |
| X | g.71224465G>A | CA330997854 | GJB1 | c.758G>A (p.Ser253Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224465G>C | CA413503972 | GJB1 | c.758G>C (p.Ser253Thr)
| |
| X | g.71224465G= | CA2436388558 | GJB1 | c.758G= (p.Ser253=)
| |
| X | g.71224465G>T | CA413503974 | GJB1 | c.758G>T (p.Ser253Ile)
| |
| X | g.71224466T>A | CA413503979 | GJB1 | c.759T>A (p.Ser253Arg)
| |
| X | g.71224466T>C | CA516821248 | GJB1 | c.759T>C (p.Ser253=)
| ClinVar dbSNP |
| X | g.71224466T>G | CA413503982 | GJB1 | c.759T>G (p.Ser253Arg)
| |
| X | g.71224466T= | CA2436388559 | GJB1 | c.759T= (p.Ser253=)
| |
| X | g.71224467G>A | CA413503986 | GJB1 | c.760G>A (p.Glu254Lys)
| |
| X | g.71224467G>C | CA413503988 | GJB1 | c.760G>C (p.Glu254Gln)
| |
| X | g.71224467G= | CA2436388560 | GJB1 | c.760G= (p.Glu254=)
| |
| X | g.71224467G>T | CA413503990 | GJB1 | c.760G>T (p.Glu254Ter)
| |
| X | g.71224468A>C | CA413503995 | GJB1 | c.761A>C (p.Glu254Ala)
| |
| X | g.71224468A>G | CA413503994 | GJB1 | c.761A>G (p.Glu254Gly)
| |
| X | g.71224468A>T | CA413503992 | GJB1 | c.761A>T (p.Glu254Val)
| |
| X | g.71224468dup | CA915951221 | GJB1 | c.761dup (p.Gln255AlafsTer21)
| ClinVar dbSNP |
| X | g.71224469G>A | CA516821252 | GJB1 | c.762G>A (p.Glu254=)
| ClinVar dbSNP |
| X | g.71224469G>C | CA413503998 | GJB1 | c.762G>C (p.Glu254Asp)
| |
| X | g.71224469G= | CA2436388561 | GJB1 | c.762G= (p.Glu254=)
| |
| X | g.71224469G>T | CA413503999 | GJB1 | c.762G>T (p.Glu254Asp)
| |
| X | g.71224470C>A | CA413504001 | GJB1 | c.763C>A (p.Gln255Lys)
| |
| X | g.71224470C>G | CA413504003 | GJB1 | c.763C>G (p.Gln255Glu)
| |
| X | g.71224470C>T | CA413504005 | GJB1 | c.763C>T (p.Gln255Ter)
| COSMIC |
| X | g.71224471A>C | CA413504007 | GJB1 | c.764A>C (p.Gln255Pro)
| |
| X | g.71224471A>G | CA413504010 | GJB1 | c.764A>G (p.Gln255Arg)
| |
| X | g.71224471A>T | CA413504011 | GJB1 | c.764A>T (p.Gln255Leu)
| |
| X | g.71224472G>A | CA516821253 | GJB1 | c.765G>A (p.Gln255=)
| dbSNP |
| X | g.71224472G>C | CA413504013 | GJB1 | c.765G>C (p.Gln255His)
| |
| X | g.71224472G= | CA2436388562 | GJB1 | c.765G= (p.Gln255=)
| |
| X | g.71224472G>T | CA413504015 | GJB1 | c.765G>T (p.Gln255His)
| |
| X | g.71224473G>A | CA413504017 | GJB1 | c.766G>A (p.Asp256Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224473G>C | CA413504019 | GJB1 | c.766G>C (p.Asp256His)
| |
| X | g.71224473G= | CA2436388563 | GJB1 | c.766G= (p.Asp256=)
| |
| X | g.71224473G>T | CA413504021 | GJB1 | c.766G>T (p.Asp256Tyr)
| COSMIC |
| X | g.71224474A>C | CA413504025 | GJB1 | c.767A>C (p.Asp256Ala)
| |
| X | g.71224474A>G | CA413504026 | GJB1 | c.767A>G (p.Asp256Gly)
| |
| X | g.71224474A>T | CA413504024 | GJB1 | c.767A>T (p.Asp256Val)
| |
| X | g.71224475T>A | CA413504031 | GJB1 | c.768T>A (p.Asp256Glu)
| |
| X | g.71224475T>C | CA516821255 | GJB1 | c.768T>C (p.Asp256=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224475T>G | CA413504029 | GJB1 | c.768T>G (p.Asp256Glu)
| |
| X | g.71224475T= | CA2436388564 | GJB1 | c.768T= (p.Asp256=)
| |
| X | g.71224476G>A | CA413504035 | GJB1 | c.769G>A (p.Gly257Ser)
| dbSNP |
| X | g.71224476G>C | CA413504033 | GJB1 | c.769G>C (p.Gly257Arg)
| |
| X | g.71224476G= | CA2436388565 | GJB1 | c.769G= (p.Gly257=)
| |
| X | g.71224476G>T | CA413504037 | GJB1 | c.769G>T (p.Gly257Cys)
| |
| X | g.71224477del | CA2821723797 | GJB1 | c.770del (p.Gly257AlafsTer3)
| |
| X | g.71224477G>A | CA413504039 | GJB1 | c.770G>A (p.Gly257Asp)
| gnomAD v4 |
| X | g.71224477G>C | CA413504041 | GJB1 | c.770G>C (p.Gly257Ala)
| |
| X | g.71224477G>T | CA413504043 | GJB1 | c.770G>T (p.Gly257Val)
| gnomAD v4 |
| X | g.71224478C>A | CA516821257 | GJB1 | c.771C>A (p.Gly257=)
| |
| X | g.71224478C= | CA2436388567 | GJB1 | c.771C= (p.Gly257=)
| |
| X | g.71224478C>G | CA516821258 | GJB1 | c.771C>G (p.Gly257=)
| |
| X | g.71224478C>T | CA516821259 | GJB1 | c.771C>T (p.Gly257=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224478_71224479delinsCT | CA2436388566 | GJB1 | c.771_772delinsCT (p.Gly257=)
| |
| X | g.71224479del | CA915951222 | GJB1 | c.772del (p.Ser258ProfsTer2)
| ClinVar dbSNP |
| X | g.71224479T>A | CA413504046 | GJB1 | c.772T>A (p.Ser258Thr)
| |
| X | g.71224479T>C | CA413504047 | GJB1 | c.772T>C (p.Ser258Pro)
| |
| X | g.71224479T>G | CA413504049 | GJB1 | c.772T>G (p.Ser258Ala)
| |
| X | g.71224479_71224480delinsTC | CA2436388568 | GJB1 | c.772_773delinsTC (p.Ser258=)
| |
| X | g.71224480C>A | CA413504055 | GJB1 | c.773C>A (p.Ser258Tyr)
| |
| X | g.71224480C= | CA2436388569 | GJB1 | c.773C= (p.Ser258=)
| |
| X | g.71224480C>G | CA413504052 | GJB1 | c.773C>G (p.Ser258Cys)
| |
| X | g.71224480C>T | CA10445340 | GJB1 | c.773C>T (p.Ser258Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224482del | CA915951223 | GJB1 | c.775del (p.Leu259Ter)
| ClinVar dbSNP |
| X | g.71224481C>A | CA516821262 | GJB1 | c.774C>A (p.Ser258=)
| |
| X | g.71224481C= | CA2436388570 | GJB1 | c.774C= (p.Ser258=)
| |
| X | g.71224481C>G | CA516821264 | GJB1 | c.774C>G (p.Ser258=)
| |
| X | g.71224481C>T | CA516821266 | GJB1 | c.774C>T (p.Ser258=)
| dbSNP |
| X | g.71224482C>A | CA413504056 | GJB1 | c.775C>A (p.Leu259Met)
| |
| X | g.71224482C>G | CA413504058 | GJB1 | c.775C>G (p.Leu259Val)
| |
| X | g.71224482C>T | CA516821267 | GJB1 | c.775C>T (p.Leu259=)
| |
| X | g.71224483T>A | CA413504061 | GJB1 | c.776T>A (p.Leu259Gln)
| |
| X | g.71224483T>C | CA413504063 | GJB1 | c.776T>C (p.Leu259Pro)
| gnomAD v4 |
| X | g.71224483T>G | CA413504065 | GJB1 | c.776T>G (p.Leu259Arg)
| |
| X | g.71224484G>A | CA516821269 | GJB1 | c.777G>A (p.Leu259=)
| |
| X | g.71224484G>C | CA516821270 | GJB1 | c.777G>C (p.Leu259=)
| |
| X | g.71224484G>T | CA516821271 | GJB1 | c.777G>T (p.Leu259=)
| |
| X | g.71224485A= | CA2436388571 | GJB1 | c.778A= (p.Lys260=)
| |
| X | g.71224485A>C | CA413504068 | GJB1 | c.778A>C (p.Lys260Gln)
| |
| X | g.71224485A>G | CA413504072 | GJB1 | c.778A>G (p.Lys260Glu)
| ClinVar dbSNP |
| X | g.71224485A>T | CA413504070 | GJB1 | c.778A>T (p.Lys260Ter)
| |
| X | g.71224486A= | CA2436388572 | GJB1 | c.779A= (p.Lys260=)
| |
| X | g.71224486A>C | CA413504074 | GJB1 | c.779A>C (p.Lys260Thr)
| |
| X | g.71224486A>G | CA413504076 | GJB1 | c.779A>G (p.Lys260Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224486A>T | CA413504078 | GJB1 | c.779A>T (p.Lys260Ile)
| |
| X | g.71224487A>C | CA413504080 | GJB1 | c.780A>C (p.Lys260Asn)
| |
| X | g.71224487A>G | CA516821272 | GJB1 | c.780A>G (p.Lys260=)
| |
| X | g.71224487A>T | CA413504082 | GJB1 | c.780A>T (p.Lys260Asn)
| |
| X | g.71224488G>A | CA413504084 | GJB1 | c.781G>A (p.Asp261Asn)
| gnomAD v4 |
| X | g.71224488G>C | CA413504086 | GJB1 | c.781G>C (p.Asp261His)
| |
| X | g.71224488G>T | CA413504088 | GJB1 | c.781G>T (p.Asp261Tyr)
| |
| X | g.71224488_71224490delinsGAC | CA2436388573 | GJB1 | c.781_783delinsGAC (p.Asp261=)
| |
| X | g.71224489A>C | CA413504091 | GJB1 | c.782A>C (p.Asp261Ala)
| |
| X | g.71224489A>G | CA413504092 | GJB1 | c.782A>G (p.Asp261Gly)
| gnomAD v4 |
| X | g.71224489A>T | CA413504094 | GJB1 | c.782A>T (p.Asp261Val)
| |
| X | g.71224490_71224491del | CA915951224 | GJB1 | c.783_784del (p.Ile262ThrfsTer13)
| ClinVar dbSNP |
| X | g.71224490C>A | CA413504098 | GJB1 | c.783C>A (p.Asp261Glu)
| |
| X | g.71224490C= | CA2436388574 | GJB1 | c.783C= (p.Asp261=)
| |
| X | g.71224490C>G | CA413504096 | GJB1 | c.783C>G (p.Asp261Glu)
| |
| X | g.71224490C>T | CA516821274 | GJB1 | c.783C>T (p.Asp261=)
| dbSNP gnomAD v2 |
| X | g.71224490_71224492delinsCAT | CA2436388575 | GJB1 | c.783_785delinsCAT (p.Asp261=)
| |
