| 13 | g.20222885G>A | CA387467683 | GJB6 | c.596C>T (p.Ser199Phe)
| |
| 13 | g.20222885G>C | CA387467686 | GJB6 | c.596C>G (p.Ser199Cys)
| |
| 13 | g.20222885G>T | CA387467685 | GJB6 | c.596C>A (p.Ser199Tyr)
| COSMIC |
| 13 | g.20222886A= | CA2077159605 | GJB6 | c.595T= (p.Ser199=)
| |
| 13 | g.20222886A>C | CA387467688 | GJB6 | c.595T>G (p.Ser199Ala)
| |
| 13 | g.20222886A>G | CA387467690 | GJB6 | c.595T>C (p.Ser199Pro)
| |
| 13 | g.20222886A>T | CA136463 | GJB6 | c.595T>A (p.Ser199Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222887C>A | CA483154175 | GJB6 | c.594G>T (p.Ala198=)
| gnomAD v3 gnomAD v4 |
| 13 | g.20222887C= | CA2077159607 | GJB6 | c.594G= (p.Ala198=)
| |
| 13 | g.20222887C>G | CA483154176 | GJB6 | c.594G>C (p.Ala198=)
| gnomAD v4 |
| 13 | g.20222887C>T | CA6904409 | GJB6 | c.594G>A (p.Ala198=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.20222888G>A | CA6904411 | GJB6 | c.593C>T (p.Ala198Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.20222888G>C | CA387467693 | GJB6 | c.593C>G (p.Ala198Gly)
| |
| 13 | g.20222888G= | CA2077159609 | GJB6 | c.593C= (p.Ala198=)
| |
| 13 | g.20222888G>T | CA6904410 | GJB6 | c.593C>A (p.Ala198Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222889C>A | CA387467695 | GJB6 | c.592G>T (p.Ala198Ser)
| gnomAD v4 |
| 13 | g.20222889C>G | CA387467697 | GJB6 | c.592G>C (p.Ala198Pro)
| dbSNP |
| 13 | g.20222889C>T | CA387467699 | GJB6 | c.592G>A (p.Ala198Thr)
| |
| 13 | g.20222890A>C | CA483154177 | GJB6 | c.591T>G (p.Ser197=)
| |
| 13 | g.20222890A>G | CA483154178 | GJB6 | c.591T>C (p.Ser197=)
| |
| 13 | g.20222890A>T | CA483154179 | GJB6 | c.591T>A (p.Ser197=)
| |
| 13 | g.20222891G>A | CA387467700 | GJB6 | c.590C>T (p.Ser197Phe)
| |
| 13 | g.20222891G>C | CA387467702 | GJB6 | c.590C>G (p.Ser197Cys)
| |
| 13 | g.20222891G>T | CA387467703 | GJB6 | c.590C>A (p.Ser197Tyr)
| ClinVar |
| 13 | g.20222892A>C | CA387467708 | GJB6 | c.589T>G (p.Ser197Ala)
| |
| 13 | g.20222892A>G | CA387467707 | GJB6 | c.589T>C (p.Ser197Pro)
| |
| 13 | g.20222892A>T | CA387467706 | GJB6 | c.589T>A (p.Ser197Thr)
| |
| 13 | g.20222893A= | CA2077159612 | GJB6 | c.588T= (p.Ile196=)
| |
| 13 | g.20222893A>C | CA387467710 | GJB6 | c.588T>G (p.Ile196Met)
| dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20222893A>G | CA483154180 | GJB6 | c.588T>C (p.Ile196=)
| |
| 13 | g.20222893A>T | CA483154181 | GJB6 | c.588T>A (p.Ile196=)
| |
| 13 | g.20222894A>C | CA387467711 | GJB6 | c.587T>G (p.Ile196Ser)
| |
| 13 | g.20222894A>G | CA387467712 | GJB6 | c.587T>C (p.Ile196Thr)
| gnomAD v4 |
| 13 | g.20222894A>T | CA387467714 | GJB6 | c.587T>A (p.Ile196Asn)
| |
| 13 | g.20222895T>A | CA387467716 | GJB6 | c.586A>T (p.Ile196Phe)
| |
| 13 | g.20222895T>C | CA387467718 | GJB6 | c.586A>G (p.Ile196Val)
| gnomAD v4 |
| 13 | g.20222895T>G | CA387467720 | GJB6 | c.586A>C (p.Ile196Leu)
| |
| 13 | g.20222896C>A | CA6904412 | GJB6 | c.585G>T (p.Met195Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222896C= | CA2077159614 | GJB6 | c.585G= (p.Met195=)
| |
| 13 | g.20222896C>G | CA387467721 | GJB6 | c.585G>C (p.Met195Ile)
| |
| 13 | g.20222896C>T | CA387467722 | GJB6 | c.585G>A (p.Met195Ile)
| ClinVar dbSNP gnomAD v4 |
| 13 | g.20222897A= | CA2077159617 | GJB6 | c.584T= (p.Met195=)
| |
| 13 | g.20222897A>C | CA387467726 | GJB6 | c.584T>G (p.Met195Arg)
| |
| 13 | g.20222897A>G | CA246490654 | GJB6 | c.584T>C (p.Met195Thr)
| dbSNP gnomAD v4 |
| 13 | g.20222897A>T | CA387467724 | GJB6 | c.584T>A (p.Met195Lys)
| gnomAD v4 |
| 13 | g.20222898T>A | CA387467728 | GJB6 | c.583A>T (p.Met195Leu)
| |
| 13 | g.20222898T>C | CA6904413 | GJB6 | c.583A>G (p.Met195Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222898T>G | CA387467729 | GJB6 | c.583A>C (p.Met195Leu)
| |
| 13 | g.20222898T= | CA2077159621 | GJB6 | c.583A= (p.Met195=)
| |
| 13 | g.20222899A>C | CA387467731 | GJB6 | c.582T>G (p.Phe194Leu)
| |
| 13 | g.20222899A>G | CA483154182 | GJB6 | c.582T>C (p.Phe194=)
| |
| 13 | g.20222899A>T | CA387467732 | GJB6 | c.582T>A (p.Phe194Leu)
| |
| 13 | g.20222900A>C | CA387467733 | GJB6 | c.581T>G (p.Phe194Cys)
| |
| 13 | g.20222900A>G | CA387467735 | GJB6 | c.581T>C (p.Phe194Ser)
| |
| 13 | g.20222900A>T | CA387467736 | GJB6 | c.581T>A (p.Phe194Tyr)
| |
| 13 | g.20222901A>C | CA387467739 | GJB6 | c.580T>G (p.Phe194Val)
| |
| 13 | g.20222901A>G | CA387467740 | GJB6 | c.580T>C (p.Phe194Leu)
| |
| 13 | g.20222901A>T | CA387467741 | GJB6 | c.580T>A (p.Phe194Ile)
| |
| 13 | g.20222902A>C | CA387467743 | GJB6 | c.579T>G (p.Ile193Met)
| |
| 13 | g.20222902A>G | CA483154183 | GJB6 | c.579T>C (p.Ile193=)
| |
| 13 | g.20222902A>T | CA483154184 | GJB6 | c.579T>A (p.Ile193=)
| |
| 13 | g.20222903A= | CA2077159624 | GJB6 | c.578T= (p.Ile193=)
| |
| 13 | g.20222903A>C | CA387467748 | GJB6 | c.578T>G (p.Ile193Ser)
| |
| 13 | g.20222903A>G | CA387467745 | GJB6 | c.578T>C (p.Ile193Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20222903A>T | CA387467747 | GJB6 | c.578T>A (p.Ile193Asn)
| gnomAD v4 COSMIC |
| 13 | g.20222904T>A | CA387467750 | GJB6 | c.577A>T (p.Ile193Phe)
| |
| 13 | g.20222904T>C | CA6904414 | GJB6 | c.577A>G (p.Ile193Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222904T>G | CA387467752 | GJB6 | c.577A>C (p.Ile193Leu)
| |
| 13 | g.20222904T= | CA2077159626 | GJB6 | c.577A= (p.Ile193=)
| |
| 13 | g.20222905G>A | CA483154185 | GJB6 | c.576C>T (p.Thr192=)
| dbSNP |
| 13 | g.20222905G>C | CA483154186 | GJB6 | c.576C>G (p.Thr192=)
| |
| 13 | g.20222905G>T | CA483154187 | GJB6 | c.576C>A (p.Thr192=)
| |
| 13 | g.20222906G>A | CA387467754 | GJB6 | c.575C>T (p.Thr192Ile)
| |
| 13 | g.20222906G>C | CA387467755 | GJB6 | c.575C>G (p.Thr192Ser)
| |
| 13 | g.20222906G>T | CA387467757 | GJB6 | c.575C>A (p.Thr192Asn)
| |
| 13 | g.20222907T>A | CA387467759 | GJB6 | c.574A>T (p.Thr192Ser)
| |
| 13 | g.20222907T>C | CA387467760 | GJB6 | c.574A>G (p.Thr192Ala)
| |
| 13 | g.20222907T>G | CA387467761 | GJB6 | c.574A>C (p.Thr192Pro)
| |
| 13 | g.20222908A>C | CA387467762 | GJB6 | c.573T>G (p.Phe191Leu)
| |
| 13 | g.20222908A>G | CA483154188 | GJB6 | c.573T>C (p.Phe191=)
| |
| 13 | g.20222908A>T | CA387467763 | GJB6 | c.573T>A (p.Phe191Leu)
| |
| 13 | g.20222909A= | CA2077159629 | GJB6 | c.572T= (p.Phe191=)
| |
| 13 | g.20222909A>C | CA387467767 | GJB6 | c.572T>G (p.Phe191Cys)
| |
| 13 | g.20222909A>G | CA387467769 | GJB6 | c.572T>C (p.Phe191Ser)
| dbSNP |
| 13 | g.20222909A>T | CA387467766 | GJB6 | c.572T>A (p.Phe191Tyr)
| |
| 13 | g.20222910A= | CA2077159632 | GJB6 | c.571T= (p.Phe191=)
| |
| 13 | g.20222910A>C | CA387467773 | GJB6 | c.571T>G (p.Phe191Val)
| |
| 13 | g.20222910A>G | CA246490657 | GJB6 | c.571T>C (p.Phe191Leu)
| dbSNP gnomAD v4 |
| 13 | g.20222910A>T | CA387467771 | GJB6 | c.571T>A (p.Phe191Ile)
| |
| 13 | g.20222911C>A | CA483154189 | GJB6 | c.570G>T (p.Val190=)
| |
| 13 | g.20222911C>G | CA483154190 | GJB6 | c.570G>C (p.Val190=)
| |
| 13 | g.20222911C>T | CA483154191 | GJB6 | c.570G>A (p.Val190=)
| gnomAD v4 |
| 13 | g.20222912A= | CA2077159635 | GJB6 | c.569T= (p.Val190=)
| |
| 13 | g.20222912A>C | CA387467775 | GJB6 | c.569T>G (p.Val190Gly)
| |
| 13 | g.20222912A>G | CA6904415 | GJB6 | c.569T>C (p.Val190Ala)
| dbSNP ExAC gnomAD v4 |
| 13 | g.20222912A>T | CA387467777 | GJB6 | c.569T>A (p.Val190Glu)
| |
| 13 | g.20222913C>A | CA6904416 | GJB6 | c.568G>T (p.Val190Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222913C= | CA2077159637 | GJB6 | c.568G= (p.Val190=)
| |
| 13 | g.20222913C>G | CA387467780 | GJB6 | c.568G>C (p.Val190Leu)
| |
| 13 | g.20222913C>T | CA6904417 | GJB6 | c.568G>A (p.Val190Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222914G>A | CA6904418 | GJB6 | c.567C>T (p.Thr189=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222914G>C | CA483154192 | GJB6 | c.567C>G (p.Thr189=)
| |
| 13 | g.20222914G= | CA2077159639 | GJB6 | c.567C= (p.Thr189=)
| |
| 13 | g.20222914G>T | CA483154193 | GJB6 | c.567C>A (p.Thr189=)
| dbSNP gnomAD v4 |
| 13 | g.20222915dup | CA2077159638 | GJB6 | c.567dup (p.Val190ArgfsTer17)
| dbSNP |
| 13 | g.20222915G>A | CA387467782 | GJB6 | c.566C>T (p.Thr189Ile)
| |
| 13 | g.20222915G>C | CA387467784 | GJB6 | c.566C>G (p.Thr189Ser)
| |
| 13 | g.20222915G>T | CA387467786 | GJB6 | c.566C>A (p.Thr189Asn)
| |
| 13 | g.20222916T>A | CA387467790 | GJB6 | c.565A>T (p.Thr189Ser)
| |
| 13 | g.20222916T>C | CA387467787 | GJB6 | c.565A>G (p.Thr189Ala)
| |
| 13 | g.20222916T>G | CA387467789 | GJB6 | c.565A>C (p.Thr189Pro)
| |
| 13 | g.20222917C>A | CA387467791 | GJB6 | c.564G>T (p.Lys188Asn)
| gnomAD v4 |
| 13 | g.20222917C= | CA2077159641 | GJB6 | c.564G= (p.Lys188=)
| |
| 13 | g.20222917C>G | CA387467792 | GJB6 | c.564G>C (p.Lys188Asn)
| gnomAD v4 |
| 13 | g.20222917C>T | CA6904419 | GJB6 | c.564G>A (p.Lys188=)
| dbSNP ExAC gnomAD v2 |
| 13 | g.20222918T>A | CA387467794 | GJB6 | c.563A>T (p.Lys188Met)
| COSMIC |
| 13 | g.20222918T>C | CA387467795 | GJB6 | c.563A>G (p.Lys188Arg)
| |
| 13 | g.20222918T>G | CA387467797 | GJB6 | c.563A>C (p.Lys188Thr)
| |
| 13 | g.20222919T>A | CA387467799 | GJB6 | c.562A>T (p.Lys188Ter)
| |
| 13 | g.20222919T>C | CA387467801 | GJB6 | c.562A>G (p.Lys188Glu)
| |
| 13 | g.20222919T>G | CA387467802 | GJB6 | c.562A>C (p.Lys188Gln)
| |
| 13 | g.20222920C>A | CA387467804 | GJB6 | c.561G>T (p.Glu187Asp)
| COSMIC |
| 13 | g.20222920C>G | CA387467806 | GJB6 | c.561G>C (p.Glu187Asp)
| |
| 13 | g.20222920C>T | CA483154324 | GJB6 | c.561G>A (p.Glu187=)
| |
| 13 | g.20222921T>A | CA387467809 | GJB6 | c.560A>T (p.Glu187Val)
| |
| 13 | g.20222921T>C | CA387467811 | GJB6 | c.560A>G (p.Glu187Gly)
| |
| 13 | g.20222921T>G | CA387467808 | GJB6 | c.560A>C (p.Glu187Ala)
| |
| 13 | g.20222922C>A | CA387467813 | GJB6 | c.559G>T (p.Glu187Ter)
| |
| 13 | g.20222922C>G | CA387467815 | GJB6 | c.559G>C (p.Glu187Gln)
| |
| 13 | g.20222922C>T | CA387467816 | GJB6 | c.559G>A (p.Glu187Lys)
| COSMIC |
| 13 | g.20222923T>A | CA483154327 | GJB6 | c.558A>T (p.Thr186=)
| |
| 13 | g.20222923T>C | CA483154328 | GJB6 | c.558A>G (p.Thr186=)
| |
| 13 | g.20222923T>G | CA483154329 | GJB6 | c.558A>C (p.Thr186=)
| |
| 13 | g.20222924G>A | CA387467817 | GJB6 | c.557C>T (p.Thr186Ile)
| dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20222924G>C | CA387467819 | GJB6 | c.557C>G (p.Thr186Arg)
| |
| 13 | g.20222924G= | CA2077159642 | GJB6 | c.557C= (p.Thr186=)
| |
| 13 | g.20222924G>T | CA387467821 | GJB6 | c.557C>A (p.Thr186Lys)
| |
| 13 | g.20222925T>A | CA387467822 | GJB6 | c.556A>T (p.Thr186Ser)
| |
| 13 | g.20222925T>C | CA6904420 | GJB6 | c.556A>G (p.Thr186Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222925T>G | CA387467824 | GJB6 | c.556A>C (p.Thr186Pro)
| |
| 13 | g.20222925T= | CA2077159644 | GJB6 | c.556A= (p.Thr186=)
| |
| 13 | g.20222926T>A | CA483154330 | GJB6 | c.555A>T (p.Pro185=)
| |
| 13 | g.20222926T>C | CA483154331 | GJB6 | c.555A>G (p.Pro185=)
| |
| 13 | g.20222926T>G | CA483154333 | GJB6 | c.555A>C (p.Pro185=)
| |
| 13 | g.20222927G>A | CA387467825 | GJB6 | c.554C>T (p.Pro185Leu)
| |
| 13 | g.20222927G>C | CA387467827 | GJB6 | c.554C>G (p.Pro185Arg)
| |
| 13 | g.20222927G>T | CA387467829 | GJB6 | c.554C>A (p.Pro185Gln)
| |
| 13 | g.20222928G>A | CA387467832 | GJB6 | c.553C>T (p.Pro185Ser)
| |
| 13 | g.20222928G>C | CA387467833 | GJB6 | c.553C>G (p.Pro185Ala)
| |
| 13 | g.20222928G= | CA2077159646 | GJB6 | c.553C= (p.Pro185=)
| |
| 13 | g.20222928G>T | CA6904421 | GJB6 | c.553C>A (p.Pro185Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222929C>A | CA387467835 | GJB6 | c.552G>T (p.Arg184Ser)
| |
| 13 | g.20222929C>G | CA387467836 | GJB6 | c.552G>C (p.Arg184Ser)
| |
| 13 | g.20222929C>T | CA483154336 | GJB6 | c.552G>A (p.Arg184=)
| |
| 13 | g.20222930C>A | CA387467838 | GJB6 | c.551G>T (p.Arg184Met)
| |
| 13 | g.20222930C>G | CA387467839 | GJB6 | c.551G>C (p.Arg184Thr)
| |
| 13 | g.20222930C>T | CA387467841 | GJB6 | c.551G>A (p.Arg184Lys)
| gnomAD v4 |
| 13 | g.20222931T>A | CA387467842 | GJB6 | c.550A>T (p.Arg184Trp)
| |
| 13 | g.20222931T>C | CA387467844 | GJB6 | c.550A>G (p.Arg184Gly)
| |
| 13 | g.20222931T>G | CA483154338 | GJB6 | c.550A>C (p.Arg184=)
| |
| 13 | g.20222932A>C | CA483154339 | GJB6 | c.549T>G (p.Ser183=)
| |
| 13 | g.20222932A>G | CA483154340 | GJB6 | c.549T>C (p.Ser183=)
| gnomAD v4 |
| 13 | g.20222932A>T | CA483154341 | GJB6 | c.549T>A (p.Ser183=)
| |
| 13 | g.20222933G>A | CA387467846 | GJB6 | c.548C>T (p.Ser183Phe)
| |
| 13 | g.20222933G>C | CA387467849 | GJB6 | c.548C>G (p.Ser183Cys)
| |
| 13 | g.20222933G>T | CA387467847 | GJB6 | c.548C>A (p.Ser183Tyr)
| |
| 13 | g.20222934A>C | CA387467851 | GJB6 | c.547T>G (p.Ser183Ala)
| |
| 13 | g.20222934A>G | CA387467853 | GJB6 | c.547T>C (p.Ser183Pro)
| |
| 13 | g.20222934A>T | CA387467854 | GJB6 | c.547T>A (p.Ser183Thr)
| |
| 13 | g.20222935A>C | CA387467856 | GJB6 | c.546T>G (p.Ile182Met)
| |
| 13 | g.20222935A>G | CA483154346 | GJB6 | c.546T>C (p.Ile182=)
| |
| 13 | g.20222935A>T | CA483154347 | GJB6 | c.546T>A (p.Ile182=)
| |
| 13 | g.20222936A>C | CA387467861 | GJB6 | c.545T>G (p.Ile182Ser)
| |
| 13 | g.20222936A>G | CA387467859 | GJB6 | c.545T>C (p.Ile182Thr)
| gnomAD v4 |
| 13 | g.20222936A>T | CA387467858 | GJB6 | c.545T>A (p.Ile182Asn)
| |
| 13 | g.20222937T>A | CA387467862 | GJB6 | c.544A>T (p.Ile182Phe)
| |
| 13 | g.20222937T>C | CA387467866 | GJB6 | c.544A>G (p.Ile182Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20222937T>G | CA387467864 | GJB6 | c.544A>C (p.Ile182Leu)
| |
| 13 | g.20222937T= | CA2077159649 | GJB6 | c.544A= (p.Ile182=)
| |
| 13 | g.20222938A>C | CA387467867 | GJB6 | c.543T>G (p.Phe181Leu)
| |
| 13 | g.20222938A>G | CA483154351 | GJB6 | c.543T>C (p.Phe181=)
| |
| 13 | g.20222938A>T | CA387467868 | GJB6 | c.543T>A (p.Phe181Leu)
| |
| 13 | g.20222939A>C | CA387467871 | GJB6 | c.542T>G (p.Phe181Cys)
| |
| 13 | g.20222939A>G | CA387467872 | GJB6 | c.542T>C (p.Phe181Ser)
| |
| 13 | g.20222939A>T | CA387467874 | GJB6 | c.542T>A (p.Phe181Tyr)
| |
| 13 | g.20222940A>C | CA387467875 | GJB6 | c.541T>G (p.Phe181Val)
| |
| 13 | g.20222940A>G | CA387467877 | GJB6 | c.541T>C (p.Phe181Leu)
| |
| 13 | g.20222940A>T | CA387467878 | GJB6 | c.541T>A (p.Phe181Ile)
| |
| 13 | g.20222941G>A | CA483154353 | GJB6 | c.540C>T (p.Cys180=)
| |
| 13 | g.20222941G>C | CA387467880 | GJB6 | c.540C>G (p.Cys180Trp)
| |
| 13 | g.20222941G>T | CA387467881 | GJB6 | c.540C>A (p.Cys180Ter)
| |
| 13 | g.20222942C>A | CA387467883 | GJB6 | c.539G>T (p.Cys180Phe)
| gnomAD v4 |
| 13 | g.20222942C>G | CA387467884 | GJB6 | c.539G>C (p.Cys180Ser)
| |
| 13 | g.20222942C>T | CA387467886 | GJB6 | c.539G>A (p.Cys180Tyr)
| |
| 13 | g.20222943A>C | CA387467890 | GJB6 | c.538T>G (p.Cys180Gly)
| |
| 13 | g.20222943A>G | CA387467888 | GJB6 | c.538T>C (p.Cys180Arg)
| gnomAD v4 |
| 13 | g.20222943A>T | CA387467889 | GJB6 | c.538T>A (p.Cys180Ser)
| |
| 13 | g.20222944G>A | CA483154355 | GJB6 | c.537C>T (p.Asp179=)
| |
| 13 | g.20222944G>C | CA387467892 | GJB6 | c.537C>G (p.Asp179Glu)
| |
| 13 | g.20222944G>T | CA387467894 | GJB6 | c.537C>A (p.Asp179Glu)
| |
| 13 | g.20222945T>A | CA387467896 | GJB6 | c.536A>T (p.Asp179Val)
| gnomAD v4 |
| 13 | g.20222945T>C | CA387467897 | GJB6 | c.536A>G (p.Asp179Gly)
| |
| 13 | g.20222945T>G | CA387467898 | GJB6 | c.536A>C (p.Asp179Ala)
| |
| 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)
| |
