| 1 | g.215743217_215743221delinsTGGAG | CA1220402675 | USH2A | c.11504_11508delinsCTCCA (p.Thr3835=)
| |
| 1 | g.215743218_215743221del | CA529002164 | USH2A | c.11504_11507del (p.Thr3835AsnfsTer7)
| dbSNP gnomAD v2 |
| 1 | g.215743221G>A | CA143259 | USH2A | c.11504C>T (p.Thr3835Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215743221G>C | CA344834751 | USH2A | c.11504C>G (p.Thr3835Ser)
| |
| 1 | g.215743221G= | CA1140236523 | USH2A | c.11504C= (p.Thr3835=)
| |
| 1 | g.215743221G>T | CA344834752 | USH2A | c.11504C>A (p.Thr3835Asn)
| |
| 1 | g.215743222T>A | CA344834754 | USH2A | c.11503A>T (p.Thr3835Ser)
| |
| 1 | g.215743222T>C | CA344834756 | USH2A | c.11503A>G (p.Thr3835Ala)
| gnomAD v4 |
| 1 | g.215743222T>G | CA344834755 | USH2A | c.11503A>C (p.Thr3835Pro)
| |
| 1 | g.215743223C>A | CA344834757 | USH2A | c.11502G>T (p.Leu3834Phe)
| |
| 1 | g.215743223C>G | CA344834758 | USH2A | c.11502G>C (p.Leu3834Phe)
| |
| 1 | g.215743223C>T | CA423314623 | USH2A | c.11502G>A (p.Leu3834=)
| |
| 1 | g.215743223_215743224delinsCA | CA1220402678 | USH2A | c.11501_11502delinsTG (p.Leu3834=)
| |
| 1 | g.215743224A= | CA1220402679 | USH2A | c.11501T= (p.Leu3834=)
| |
| 1 | g.215743224A>C | CA344834759 | USH2A | c.11501T>G (p.Leu3834Trp)
| |
| 1 | g.215743224A>G | CA1393697 | USH2A | c.11501T>C (p.Leu3834Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215743224A>T | CA344834760 | USH2A | c.11501T>A (p.Leu3834Ter)
| |
| 1 | g.215743226del | CA916402759 | USH2A | c.11501del (p.Leu3834Ter)
| dbSNP |
| 1 | g.215743225A= | CA1220402680 | USH2A | c.11500T= (p.Leu3834=)
| |
| 1 | g.215743225A>C | CA344834761 | USH2A | c.11500T>G (p.Leu3834Val)
| |
| 1 | g.215743225A>G | CA423314628 | USH2A | c.11500T>C (p.Leu3834=)
| |
| 1 | g.215743225A>T | CA344834762 | USH2A | c.11500T>A (p.Leu3834Met)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215743226A= | CA1220402681 | USH2A | c.11499T= (p.Asn3833=)
| |
| 1 | g.215743226A>C | CA344834764 | USH2A | c.11499T>G (p.Asn3833Lys)
| |
| 1 | g.215743226A>G | CA423314629 | USH2A | c.11499T>C (p.Asn3833=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215743226A>T | CA344834771 | USH2A | c.11499T>A (p.Asn3833Lys)
| |
| 1 | g.215743227T>A | CA344834773 | USH2A | c.11498A>T (p.Asn3833Ile)
| |
| 1 | g.215743227T>C | CA344834775 | USH2A | c.11498A>G (p.Asn3833Ser)
| gnomAD v4 |
| 1 | g.215743227T>G | CA344834780 | USH2A | c.11498A>C (p.Asn3833Thr)
| |
| 1 | g.215743228T>A | CA344834784 | USH2A | c.11497A>T (p.Asn3833Tyr)
| |
| 1 | g.215743228T>C | CA344834790 | USH2A | c.11497A>G (p.Asn3833Asp)
| |
| 1 | g.215743228T>G | CA344834787 | USH2A | c.11497A>C (p.Asn3833His)
| |
| 1 | g.215743229T>A | CA344834807 | USH2A | c.11496A>T (p.Glu3832Asp)
| |
| 1 | g.215743229T>C | CA423314633 | USH2A | c.11496A>G (p.Glu3832=)
| |
| 1 | g.215743229T>G | CA344834809 | USH2A | c.11496A>C (p.Glu3832Asp)
| |
| 1 | g.215743230T>A | CA344834811 | USH2A | c.11495A>T (p.Glu3832Val)
| gnomAD v4 |
| 1 | g.215743230T>C | CA344834813 | USH2A | c.11495A>G (p.Glu3832Gly)
| gnomAD v4 |
| 1 | g.215743230T>G | CA344834816 | USH2A | c.11495A>C (p.Glu3832Ala)
| |
| 1 | g.215743231C>A | CA344834820 | USH2A | c.11494G>T (p.Glu3832Ter)
| |
| 1 | g.215743231C>G | CA344834824 | USH2A | c.11494G>C (p.Glu3832Gln)
| |
| 1 | g.215743231C>T | CA344834826 | USH2A | c.11494G>A (p.Glu3832Lys)
| COSMIC COSMIC |
| 1 | g.215743232C>A | CA423314634 | USH2A | c.11493G>T (p.Leu3831=)
| |
| 1 | g.215743232C= | CA1148259494 | USH2A | c.11493G= (p.Leu3831=)
| |
| 1 | g.215743232C>G | CA423314635 | USH2A | c.11493G>C (p.Leu3831=)
| |
| 1 | g.215743232C>T | CA1393698 | USH2A | c.11493G>A (p.Leu3831=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215743233A>C | CA344834836 | USH2A | c.11492T>G (p.Leu3831Arg)
| |
| 1 | g.215743233A>G | CA344834843 | USH2A | c.11492T>C (p.Leu3831Pro)
| |
| 1 | g.215743233A>T | CA344834847 | USH2A | c.11492T>A (p.Leu3831Gln)
| |
| 1 | g.215743233_215743237del | CA2580062044 | USH2A | c.11488_11492del (p.Leu3830GlyfsTer10)
| ClinVar |
| 1 | g.215743234G>A | CA423314637 | USH2A | c.11491C>T (p.Leu3831=)
| |
| 1 | g.215743234G>C | CA344834858 | USH2A | c.11491C>G (p.Leu3831Val)
| |
| 1 | g.215743234G>T | CA344834852 | USH2A | c.11491C>A (p.Leu3831Met)
| |
| 1 | g.215743235A= | CA1220402682 | USH2A | c.11490T= (p.Leu3830=)
| |
| 1 | g.215743235A>C | CA423314640 | USH2A | c.11490T>G (p.Leu3830=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215743235A>G | CA423314638 | USH2A | c.11490T>C (p.Leu3830=)
| |
| 1 | g.215743235A>T | CA423314639 | USH2A | c.11490T>A (p.Leu3830=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215743236A= | CA1220402683 | USH2A | c.11489T= (p.Leu3830=)
| |
| 1 | g.215743236A>C | CA344834863 | USH2A | c.11489T>G (p.Leu3830Arg)
| dbSNP gnomAD v4 |
| 1 | g.215743236A>G | CA344834871 | USH2A | c.11489T>C (p.Leu3830Pro)
| gnomAD v4 |
| 1 | g.215743236A>T | CA344834874 | USH2A | c.11489T>A (p.Leu3830His)
| |
| 1 | g.215743237G>A | CA344834876 | USH2A | c.11488C>T (p.Leu3830Phe)
| ClinVar |
| 1 | g.215743237G>C | CA344834880 | USH2A | c.11488C>G (p.Leu3830Val)
| ClinVar dbSNP |
| 1 | g.215743237G>T | CA344834889 | USH2A | c.11488C>A (p.Leu3830Ile)
| |
| 1 | g.215743238G>A | CA423314642 | USH2A | c.11487C>T (p.Thr3829=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215743238G>C | CA423314643 | USH2A | c.11487C>G (p.Thr3829=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215743238G>T | CA423314644 | USH2A | c.11487C>A (p.Thr3829=)
| |
| 1 | g.215743239G>A | CA344834891 | USH2A | c.11486C>T (p.Thr3829Ile)
| |
| 1 | g.215743239G>C | CA37406889 | USH2A | c.11486C>G (p.Thr3829Ser)
| dbSNP gnomAD v4 |
| 1 | g.215743239G= | CA1220402684 | USH2A | c.11486C= (p.Thr3829=)
| |
| 1 | g.215743239G>T | CA344834894 | USH2A | c.11486C>A (p.Thr3829Asn)
| |
| 1 | g.215743240T>A | CA344834897 | USH2A | c.11485A>T (p.Thr3829Ser)
| |
| 1 | g.215743240T>C | CA344834905 | USH2A | c.11485A>G (p.Thr3829Ala)
| |
| 1 | g.215743240T>G | CA344834908 | USH2A | c.11485A>C (p.Thr3829Pro)
| |
| 1 | g.215743241G>A | CA423314646 | USH2A | c.11484C>T (p.Ser3828=)
| gnomAD v4 |
| 1 | g.215743241G>C | CA423314647 | USH2A | c.11484C>G (p.Ser3828=)
| |
| 1 | g.215743241G>T | CA423314648 | USH2A | c.11484C>A (p.Ser3828=)
| |
| 1 | g.215743242G>A | CA344834916 | USH2A | c.11483C>T (p.Ser3828Phe)
| |
| 1 | g.215743242G>C | CA344834913 | USH2A | c.11483C>G (p.Ser3828Cys)
| |
| 1 | g.215743242G= | CA1220402685 | USH2A | c.11483C= (p.Ser3828=)
| |
| 1 | g.215743242G>T | CA344834912 | USH2A | c.11483C>A (p.Ser3828Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215743243A= | CA1220402686 | USH2A | c.11482T= (p.Ser3828=)
| |
| 1 | g.215743243A>C | CA344834918 | USH2A | c.11482T>G (p.Ser3828Ala)
| |
| 1 | g.215743243A>G | CA344834923 | USH2A | c.11482T>C (p.Ser3828Pro)
| dbSNP |
| 1 | g.215743243A>T | CA344834920 | USH2A | c.11482T>A (p.Ser3828Thr)
| |
| 1 | g.215743244T>A | CA344834926 | USH2A | c.11481A>T (p.Gln3827His)
| |
| 1 | g.215743244T>C | CA37406890 | USH2A | c.11481A>G (p.Gln3827=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215743244T>G | CA344834929 | USH2A | c.11481A>C (p.Gln3827His)
| |
| 1 | g.215743244T= | CA1220402687 | USH2A | c.11481A= (p.Gln3827=)
| |
| 1 | g.215743245T>A | CA344834933 | USH2A | c.11480A>T (p.Gln3827Leu)
| |
| 1 | g.215743245T>C | CA344834934 | USH2A | c.11480A>G (p.Gln3827Arg)
| |
| 1 | g.215743245T>G | CA344834936 | USH2A | c.11480A>C (p.Gln3827Pro)
| |
| 1 | g.215743246G>A | CA344834944 | USH2A | c.11479C>T (p.Gln3827Ter)
| COSMIC COSMIC |
| 1 | g.215743246G>C | CA344834945 | USH2A | c.11479C>G (p.Gln3827Glu)
| |
| 1 | g.215743246G>T | CA344834949 | USH2A | c.11479C>A (p.Gln3827Lys)
| |
| 1 | g.215743247A= | CA1220402688 | USH2A | c.11478T= (p.His3826=)
| |
| 1 | g.215743247A>C | CA344834954 | USH2A | c.11478T>G (p.His3826Gln)
| |
| 1 | g.215743247A>G | CA1393699 | USH2A | c.11478T>C (p.His3826=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215743247A>T | CA344834961 | USH2A | c.11478T>A (p.His3826Gln)
| |
| 1 | g.215743248T>A | CA344834973 | USH2A | c.11477A>T (p.His3826Leu)
| |
| 1 | g.215743248T>C | CA344834971 | USH2A | c.11477A>G (p.His3826Arg)
| gnomAD v4 |
| 1 | g.215743248T>G | CA344834969 | USH2A | c.11477A>C (p.His3826Pro)
| dbSNP |
| 1 | g.215743248T= | CA1220402689 | USH2A | c.11477A= (p.His3826=)
| |
| 1 | g.215743249G>A | CA344834977 | USH2A | c.11476C>T (p.His3826Tyr)
| gnomAD v4 |
| 1 | g.215743249G>C | CA344834993 | USH2A | c.11476C>G (p.His3826Asp)
| |
| 1 | g.215743249G>T | CA344835001 | USH2A | c.11476C>A (p.His3826Asn)
| |
| 1 | g.215743250A>C | CA344835004 | USH2A | c.11475T>G (p.His3825Gln)
| |
| 1 | g.215743250A>G | CA423314649 | USH2A | c.11475T>C (p.His3825=)
| gnomAD v4 |
| 1 | g.215743250A>T | CA344835007 | USH2A | c.11475T>A (p.His3825Gln)
| |
| 1 | g.215743251T>A | CA344835012 | USH2A | c.11474A>T (p.His3825Leu)
| dbSNP gnomAD v4 |
| 1 | g.215743251T>C | CA344835015 | USH2A | c.11474A>G (p.His3825Arg)
| |
| 1 | g.215743251T>G | CA344835018 | USH2A | c.11474A>C (p.His3825Pro)
| |
| 1 | g.215743251T= | CA1220402690 | USH2A | c.11474A= (p.His3825=)
| |
| 1 | g.215743251_215743252delinsTG | CA1220402691 | USH2A | c.11473_11474delinsCA (p.His3825=)
| |
| 1 | g.215743252del | CA1393700 | USH2A | c.11473del (p.His3825IlefsTer10)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215743252G>A | CA344835020 | USH2A | c.11473C>T (p.His3825Tyr)
| |
| 1 | g.215743252G>C | CA344835022 | USH2A | c.11473C>G (p.His3825Asp)
| |
| 1 | g.215743252G= | CA1220402692 | USH2A | c.11473C= (p.His3825=)
| |
| 1 | g.215743252G>T | CA37406897 | USH2A | c.11473C>A (p.His3825Asn)
| dbSNP |
| 1 | g.215743253A= | CA1220402693 | USH2A | c.11472T= (p.Gly3824=)
| |
| 1 | g.215743253A>C | CA423314650 | USH2A | c.11472T>G (p.Gly3824=)
| |
| 1 | g.215743253A>G | CA423314651 | USH2A | c.11472T>C (p.Gly3824=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215743253A>T | CA423314652 | USH2A | c.11472T>A (p.Gly3824=)
| |
| 1 | g.215743254C>A | CA344835036 | USH2A | c.11471G>T (p.Gly3824Val)
| gnomAD v4 |
| 1 | g.215743254C>G | CA344835034 | USH2A | c.11471G>C (p.Gly3824Ala)
| |
| 1 | g.215743254C>T | CA344835031 | USH2A | c.11471G>A (p.Gly3824Asp)
| |
| 1 | g.215743255C>A | CA344835044 | USH2A | c.11470G>T (p.Gly3824Cys)
| dbSNP gnomAD v4 COSMIC |
| 1 | g.215743255C= | CA1220402694 | USH2A | c.11470G= (p.Gly3824=)
| |
| 1 | g.215743255C>G | CA344835039 | USH2A | c.11470G>C (p.Gly3824Arg)
| |
| 1 | g.215743255C>T | CA344835041 | USH2A | c.11470G>A (p.Gly3824Ser)
| gnomAD v4 |
| 1 | g.215743256A= | CA1220402695 | USH2A | c.11469T= (p.Val3823=)
| |
| 1 | g.215743256A>C | CA423314653 | USH2A | c.11469T>G (p.Val3823=)
| |
| 1 | g.215743256A>G | CA423314655 | USH2A | c.11469T>C (p.Val3823=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215743256A>T | CA423314654 | USH2A | c.11469T>A (p.Val3823=)
| |
| 1 | g.215743257A= | CA1220402696 | USH2A | c.11468T= (p.Val3823=)
| |
| 1 | g.215743257A>C | CA344835045 | USH2A | c.11468T>G (p.Val3823Gly)
| |
| 1 | g.215743257A>G | CA344835049 | USH2A | c.11468T>C (p.Val3823Ala)
| ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.215743257A>T | CA344835051 | USH2A | c.11468T>A (p.Val3823Asp)
| |
| 1 | g.215743258C>A | CA344835059 | USH2A | c.11467G>T (p.Val3823Phe)
| |
| 1 | g.215743258C= | CA1141870228 | USH2A | c.11467G= (p.Val3823=)
| |
| 1 | g.215743258C>G | CA344835063 | USH2A | c.11467G>C (p.Val3823Leu)
| |
| 1 | g.215743258C>T | CA1393701 | USH2A | c.11467G>A (p.Val3823Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215743259G>A | CA1393702 | USH2A | c.11466C>T (p.Ser3822=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215743259G>C | CA423314656 | USH2A | c.11466C>G (p.Ser3822=)
| |
| 1 | g.215743259G= | CA1142005285 | USH2A | c.11466C= (p.Ser3822=)
| |
| 1 | g.215743259G>T | CA423314657 | USH2A | c.11466C>A (p.Ser3822=)
| |
| 1 | g.215743260G>A | CA344835078 | USH2A | c.11465C>T (p.Ser3822Phe)
| |
| 1 | g.215743260G>C | CA344835080 | USH2A | c.11465C>G (p.Ser3822Cys)
| gnomAD v4 |
| 1 | g.215743260G>T | CA344835095 | USH2A | c.11465C>A (p.Ser3822Tyr)
| |
| 1 | g.215743261A= | CA1143517498 | USH2A | c.11464T= (p.Ser3822=)
| |
| 1 | g.215743261A>C | CA344835109 | USH2A | c.11464T>G (p.Ser3822Ala)
| |
| 1 | g.215743261A>G | CA1393703 | USH2A | c.11464T>C (p.Ser3822Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215743261A>T | CA344835104 | USH2A | c.11464T>A (p.Ser3822Thr)
| |
| 1 | g.215743262G>A | CA423314658 | USH2A | c.11463C>T (p.Phe3821=)
| |
| 1 | g.215743262G>C | CA344835119 | USH2A | c.11463C>G (p.Phe3821Leu)
| |
| 1 | g.215743262G>T | CA344835123 | USH2A | c.11463C>A (p.Phe3821Leu)
| |
| 1 | g.215743263A>C | CA344835127 | USH2A | c.11462T>G (p.Phe3821Cys)
| |
| 1 | g.215743263A>G | CA344835129 | USH2A | c.11462T>C (p.Phe3821Ser)
| |
| 1 | g.215743263A>T | CA344835131 | USH2A | c.11462T>A (p.Phe3821Tyr)
| |
| 1 | g.215743264A= | CA1220402697 | USH2A | c.11461T= (p.Phe3821=)
| |
| 1 | g.215743264A>C | CA344835148 | USH2A | c.11461T>G (p.Phe3821Val)
| gnomAD v4 |
| 1 | g.215743264A>G | CA344835134 | USH2A | c.11461T>C (p.Phe3821Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215743264A>T | CA344835138 | USH2A | c.11461T>A (p.Phe3821Ile)
| |
| 1 | g.215743265G>A | CA423314659 | USH2A | c.11460C>T (p.Ala3820=)
| dbSNP COSMIC COSMIC |
| 1 | g.215743265G>C | CA423314660 | USH2A | c.11460C>G (p.Ala3820=)
| |
| 1 | g.215743265G= | CA1220402698 | USH2A | c.11460C= (p.Ala3820=)
| |
| 1 | g.215743265G>T | CA423314661 | USH2A | c.11460C>A (p.Ala3820=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215743266G>A | CA344835150 | USH2A | c.11459C>T (p.Ala3820Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215743266G>C | CA344835153 | USH2A | c.11459C>G (p.Ala3820Gly)
| |
| 1 | g.215743266G= | CA1220402699 | USH2A | c.11459C= (p.Ala3820=)
| |
| 1 | g.215743266G>T | CA344835162 | USH2A | c.11459C>A (p.Ala3820Asp)
| |
| 1 | g.215743267C>A | CA344835167 | USH2A | c.11458G>T (p.Ala3820Ser)
| gnomAD v4 |
| 1 | g.215743267C>G | CA344835179 | USH2A | c.11458G>C (p.Ala3820Pro)
| |
| 1 | g.215743267C>T | CA344835183 | USH2A | c.11458G>A (p.Ala3820Thr)
| |
| 1 | g.215743268C>A | CA423314662 | USH2A | c.11457G>T (p.Leu3819=)
| |
| 1 | g.215743268C>G | CA423314664 | USH2A | c.11457G>C (p.Leu3819=)
| |
| 1 | g.215743268C>T | CA423314663 | USH2A | c.11457G>A (p.Leu3819=)
| |
| 1 | g.215743269A>C | CA344835192 | USH2A | c.11456T>G (p.Leu3819Arg)
| |
| 1 | g.215743269A>G | CA344835195 | USH2A | c.11456T>C (p.Leu3819Pro)
| |
| 1 | g.215743269A>T | CA344835188 | USH2A | c.11456T>A (p.Leu3819Gln)
| |
| 1 | g.215743270G>A | CA423314665 | USH2A | c.11455C>T (p.Leu3819=)
| |
| 1 | g.215743270G>C | CA344835199 | USH2A | c.11455C>G (p.Leu3819Val)
| |
| 1 | g.215743270G>T | CA344835201 | USH2A | c.11455C>A (p.Leu3819Met)
| |
| 1 | g.215743271A>C | CA423314666 | USH2A | c.11454T>G (p.Pro3818=)
| |
| 1 | g.215743271A>G | CA423314667 | USH2A | c.11454T>C (p.Pro3818=)
| |
| 1 | g.215743271A>T | CA423314668 | USH2A | c.11454T>A (p.Pro3818=)
| |
| 1 | g.215743272G>A | CA1393705 | USH2A | c.11453C>T (p.Pro3818Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215743272G>C | CA1393704 | USH2A | c.11453C>G (p.Pro3818Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215743272G= | CA1220402700 | USH2A | c.11453C= (p.Pro3818=)
| |
| 1 | g.215743272G>T | CA344835203 | USH2A | c.11453C>A (p.Pro3818His)
| COSMIC COSMIC |
| 1 | g.215743273G>A | CA344835204 | USH2A | c.11452C>T (p.Pro3818Ser)
| gnomAD v4 |
| 1 | g.215743273G>C | CA344835205 | USH2A | c.11452C>G (p.Pro3818Ala)
| |
| 1 | g.215743273G>T | CA344835208 | USH2A | c.11452C>A (p.Pro3818Thr)
| gnomAD v4 |
| 1 | g.215743274T>A | CA423314669 | USH2A | c.11451A>T (p.Thr3817=)
| COSMIC COSMIC |
| 1 | g.215743274T>C | CA423314670 | USH2A | c.11451A>G (p.Thr3817=)
| |
| 1 | g.215743274T>G | CA423314671 | USH2A | c.11451A>C (p.Thr3817=)
| |
| 1 | g.215743275G>A | CA344835212 | USH2A | c.11450C>T (p.Thr3817Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215743275G>C | CA344835219 | USH2A | c.11450C>G (p.Thr3817Arg)
| |
| 1 | g.215743275G= | CA1220402701 | USH2A | c.11450C= (p.Thr3817=)
| |
| 1 | g.215743275G>T | CA344835221 | USH2A | c.11450C>A (p.Thr3817Lys)
| COSMIC COSMIC |
| 1 | g.215743276T>A | CA344835225 | USH2A | c.11449A>T (p.Thr3817Ser)
| |
| 1 | g.215743276T>C | CA344835228 | USH2A | c.11449A>G (p.Thr3817Ala)
| |
| 1 | g.215743276T>G | CA344835231 | USH2A | c.11449A>C (p.Thr3817Pro)
| COSMIC COSMIC |
| 1 | g.215743276T= | CA1220402702 | USH2A | c.11449A= (p.Thr3817=)
| |
| 1 | g.215743276_215743277insACACA | CA731350976 | USH2A | c.11448_11449insTGTGT (p.Thr3817CysfsTer20)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215743277T>A | CA423314674 | USH2A | c.11448A>T (p.Val3816=)
| |
| 1 | g.215743277T>C | CA423314673 | USH2A | c.11448A>G (p.Val3816=)
| |
| 1 | g.215743277T>G | CA423314672 | USH2A | c.11448A>C (p.Val3816=)
| |
| 1 | g.215743278A>C | CA344835239 | USH2A | c.11447T>G (p.Val3816Gly)
| |
| 1 | g.215743278A>G | CA344835234 | USH2A | c.11447T>C (p.Val3816Ala)
| |
| 1 | g.215743278A>T | CA344835236 | USH2A | c.11447T>A (p.Val3816Glu)
| |
| 1 | g.215743278dup | CA2695199985 | USH2A | c.11447dup (p.Thr3817AsnfsTer25)
| ClinVar |
| 1 | g.215743279C>A | CA344835246 | USH2A | c.11446G>T (p.Val3816Leu)
| |
| 1 | g.215743279C>G | CA344835253 | USH2A | c.11446G>C (p.Val3816Leu)
| |
| 1 | g.215743279C>T | CA344835255 | USH2A | c.11446G>A (p.Val3816Ile)
| |
| 1 | g.215743280A>C | CA344835258 | USH2A | c.11445T>G (p.Ser3815Arg)
| |
| 1 | g.215743280A>G | CA423314675 | USH2A | c.11445T>C (p.Ser3815=)
| |
| 1 | g.215743280A>T | CA344835264 | USH2A | c.11445T>A (p.Ser3815Arg)
| |
| 1 | g.215743281C>A | CA344835268 | USH2A | c.11444G>T (p.Ser3815Ile)
| gnomAD v4 |
| 1 | g.215743281C= | CA1220402703 | USH2A | c.11444G= (p.Ser3815=)
| |
| 1 | g.215743281C>G | CA344835271 | USH2A | c.11444G>C (p.Ser3815Thr)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215743281C>T | CA344835272 | USH2A | c.11444G>A (p.Ser3815Asn)
| |
| 1 | g.215743282T>A | CA344835286 | USH2A | c.11443A>T (p.Ser3815Cys)
| gnomAD v4 |
| 1 | g.215743282T>C | CA1393706 | USH2A | c.11443A>G (p.Ser3815Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215743282T>G | CA344835290 | USH2A | c.11443A>C (p.Ser3815Arg)
| gnomAD v4 |
| 1 | g.215743282T= | CA1142307932 | USH2A | c.11443A= (p.Ser3815=)
| |
| 1 | g.215743283T>A | CA423314676 | USH2A | c.11442A>T (p.Gly3814=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215743283T>C | CA423314677 | USH2A | c.11442A>G (p.Gly3814=)
| |
| 1 | g.215743283T>G | CA423314678 | USH2A | c.11442A>C (p.Gly3814=)
| |
| 1 | g.215743283T= | CA1220402704 | USH2A | c.11442A= (p.Gly3814=)
| |
| 1 | g.215743284C>A | CA344835301 | USH2A | c.11441G>T (p.Gly3814Val)
| |
| 1 | g.215743284C>G | CA344835298 | USH2A | c.11441G>C (p.Gly3814Ala)
| |
| 1 | g.215743284C>T | CA344835296 | USH2A | c.11441G>A (p.Gly3814Glu)
| |
| 1 | g.215743285C>A | CA273676 | USH2A | c.11440G>T (p.Gly3814Ter)
| ClinVar dbSNP |
| 1 | g.215743285C= | CA1148224970 | USH2A | c.11440G= (p.Gly3814=)
| |
| 1 | g.215743285C>G | CA344835316 | USH2A | c.11440G>C (p.Gly3814Arg)
| |
| 1 | g.215743285C>T | CA344835320 | USH2A | c.11440G>A (p.Gly3814Arg)
| |
| 1 | g.215743286A>C | CA344835323 | USH2A | c.11439T>G (p.Asp3813Glu)
| |
| 1 | g.215743286A>G | CA423314679 | USH2A | c.11439T>C (p.Asp3813=)
| ClinVar dbSNP COSMIC COSMIC |
| 1 | g.215743286A>T | CA344835327 | USH2A | c.11439T>A (p.Asp3813Glu)
| |
| 1 | g.215743287T>A | CA37406958 | USH2A | c.11438A>T (p.Asp3813Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215743287T>C | CA344835330 | USH2A | c.11438A>G (p.Asp3813Gly)
| |
| 1 | g.215743287T>G | CA344835333 | USH2A | c.11438A>C (p.Asp3813Ala)
| |
| 1 | g.215743287T= | CA1141746035 | USH2A | c.11438A= (p.Asp3813=)
| |
| 1 | g.215743288_215743291del | CA913072766 | USH2A | c.11435_11438del (p.Asn3812MetfsTer4)
| |
| 1 | g.215743288C>A | CA344835335 | USH2A | c.11437G>T (p.Asp3813Tyr)
| |
| 1 | g.215743288C= | CA1220402705 | USH2A | c.11437G= (p.Asp3813=)
| |
| 1 | g.215743288C>G | CA344835337 | USH2A | c.11437G>C (p.Asp3813His)
| |
| 1 | g.215743288C>T | CA344835338 | USH2A | c.11437G>A (p.Asp3813Asn)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215743288_215743291delinsCATT | CA1220402706 | USH2A | c.11434_11437delinsAATG (p.Asn3812=)
| |
| 1 | g.215743289A>C | CA344835339 | USH2A | c.11436T>G (p.Asn3812Lys)
| |
| 1 | g.215743289A>G | CA423314680 | USH2A | c.11436T>C (p.Asn3812=)
| |
| 1 | g.215743289A>T | CA344835340 | USH2A | c.11436T>A (p.Asn3812Lys)
| COSMIC COSMIC |
| 1 | g.215743289_215743291del | CA658821853 | USH2A | c.11434_11436del (p.Asn3812del)
| ClinVar dbSNP |
| 1 | g.215743290T>A | CA344835347 | USH2A | c.11435A>T (p.Asn3812Ile)
| |
| 1 | g.215743290T>C | CA1393707 | USH2A | c.11435A>G (p.Asn3812Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215743290T>G | CA344835345 | USH2A | c.11435A>C (p.Asn3812Thr)
| |
| 1 | g.215743290T= | CA1220402707 | USH2A | c.11435A= (p.Asn3812=)
| |
| 1 | g.215743290_215743291del | CA2586968133 | USH2A | c.11434_11435del (p.Asn3812Ter)
| |
| 1 | g.215743290_215743294delinsTTGAG | CA1220402708 | USH2A | c.11431_11435delinsCTCAA (p.Leu3811=)
| |
| 1 | g.215743291_215743295del | CA913072767 | USH2A | c.11431_11435del (p.Leu3811Ter)
| |
| 1 | g.215743291T>A | CA344835350 | USH2A | c.11434A>T (p.Asn3812Tyr)
| |
| 1 | g.215743291T>C | CA344835352 | USH2A | c.11434A>G (p.Asn3812Asp)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215743291T>G | CA344835356 | USH2A | c.11434A>C (p.Asn3812His)
| |
| 1 | g.215743291T= | CA1220402709 | USH2A | c.11434A= (p.Asn3812=)
| |
| 1 | g.215743292_215743295del | CA529002165 | USH2A | c.11431_11434del (p.Leu3811MetfsTer5)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215743292G>A | CA423314681 | USH2A | c.11433C>T (p.Leu3811=)
| |
| 1 | g.215743292G>C | CA423314682 | USH2A | c.11433C>G (p.Leu3811=)
| |
| 1 | g.215743292G>T | CA423314683 | USH2A | c.11433C>A (p.Leu3811=)
| |
| 1 | g.215743293A>C | CA344835360 | USH2A | c.11432T>G (p.Leu3811Arg)
| |
| 1 | g.215743293A>G | CA344835369 | USH2A | c.11432T>C (p.Leu3811Pro)
| |
| 1 | g.215743293A>T | CA344835373 | USH2A | c.11432T>A (p.Leu3811His)
| |
| 1 | g.215743294G>A | CA344835374 | USH2A | c.11431C>T (p.Leu3811Phe)
| |
| 1 | g.215743294G>C | CA344835378 | USH2A | c.11431C>G (p.Leu3811Val)
| |
| 1 | g.215743294G>T | CA344835389 | USH2A | c.11431C>A (p.Leu3811Ile)
| |
| 1 | g.215743295T>A | CA344835394 | USH2A | c.11430A>T (p.Leu3810Phe)
| |
| 1 | g.215743295T>C | CA423314684 | USH2A | c.11430A>G (p.Leu3810=)
| dbSNP |
| 1 | g.215743295T>G | CA344835396 | USH2A | c.11430A>C (p.Leu3810Phe)
| |
| 1 | g.215743295T= | CA1220402710 | USH2A | c.11430A= (p.Leu3810=)
| |
| 1 | g.215743296A>C | CA344835405 | USH2A | c.11429T>G (p.Leu3810Ter)
| |
| 1 | g.215743296A>G | CA344835404 | USH2A | c.11429T>C (p.Leu3810Ser)
| |
| 1 | g.215743296A>T | CA344835400 | USH2A | c.11429T>A (p.Leu3810Ter)
| |
| 1 | g.215743297A>C | CA344835408 | USH2A | c.11428T>G (p.Leu3810Val)
| |
| 1 | g.215743297A>G | CA423314685 | USH2A | c.11428T>C (p.Leu3810=)
| |
| 1 | g.215743297A>T | CA344835411 | USH2A | c.11428T>A (p.Leu3810Ile)
| |
| 1 | g.215743298_215743299del | CA2586968134 | USH2A | c.11427_11428del (p.Leu3810ThrfsTer3)
| |
| 1 | g.215743298G>A | CA423314686 | USH2A | c.11427C>T (p.Val3809=)
| gnomAD v4 |
| 1 | g.215743298G>C | CA423314688 | USH2A | c.11427C>G (p.Val3809=)
| ClinVar gnomAD v4 |
| 1 | g.215743298G>T | CA423314687 | USH2A | c.11427C>A (p.Val3809=)
| COSMIC COSMIC |
| 1 | g.215743299A>C | CA344835415 | USH2A | c.11426T>G (p.Val3809Gly)
| |
| 1 | g.215743299A>G | CA344835423 | USH2A | c.11426T>C (p.Val3809Ala)
| |
| 1 | g.215743299A>T | CA344835418 | USH2A | c.11426T>A (p.Val3809Asp)
| |
| 1 | g.215743300C>A | CA344835425 | USH2A | c.11425G>T (p.Val3809Phe)
| dbSNP |
| 1 | g.215743300C= | CA1220402711 | USH2A | c.11425G= (p.Val3809=)
| |
| 1 | g.215743300C>G | CA344835429 | USH2A | c.11425G>C (p.Val3809Leu)
| dbSNP |
| 1 | g.215743300C>T | CA344835428 | USH2A | c.11425G>A (p.Val3809Ile)
| gnomAD v4 |
| 1 | g.215743301A>C | CA344835430 | USH2A | c.11424T>G (p.Asn3808Lys)
| |
| 1 | g.215743301A>G | CA423314689 | USH2A | c.11424T>C (p.Asn3808=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215743301A>T | CA344835431 | USH2A | c.11424T>A (p.Asn3808Lys)
| |
| 1 | g.215743302T>A | CA344835432 | USH2A | c.11423A>T (p.Asn3808Ile)
| gnomAD v4 |
| 1 | g.215743302T>C | CA344835434 | USH2A | c.11423A>G (p.Asn3808Ser)
| ClinVar gnomAD v4 |
| 1 | g.215743302T>G | CA344835433 | USH2A | c.11423A>C (p.Asn3808Thr)
| |
| 1 | g.215743303T>A | CA344835436 | USH2A | c.11422A>T (p.Asn3808Tyr)
| |
| 1 | g.215743303T>C | CA344835452 | USH2A | c.11422A>G (p.Asn3808Asp)
| dbSNP gnomAD v4 |
| 1 | g.215743303T>G | CA344835439 | USH2A | c.11422A>C (p.Asn3808His)
| |
| 1 | g.215743303T= | CA1220402712 | USH2A | c.11422A= (p.Asn3808=)
| |
| 1 | g.215743304G>A | CA423314690 | USH2A | c.11421C>T (p.Tyr3807=)
| |
| 1 | g.215743304G>C | CA344835461 | USH2A | c.11421C>G (p.Tyr3807Ter)
| gnomAD v4 |
| 1 | g.215743304G>T | CA344835463 | USH2A | c.11421C>A (p.Tyr3807Ter)
| ClinVar |
| 1 | g.215743305T>A | CA344835465 | USH2A | c.11420A>T (p.Tyr3807Phe)
| |
| 1 | g.215743305T>C | CA344835467 | USH2A | c.11420A>G (p.Tyr3807Cys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215743305T>G | CA344835469 | USH2A | c.11420A>C (p.Tyr3807Ser)
| |
| 1 | g.215743305T= | CA1220402713 | USH2A | c.11420A= (p.Tyr3807=)
| |
| 1 | g.215743305_215743320del | CA2650502100 | USH2A | c.11405_11420del (p.Glu3802AlafsTer10)
| gnomAD v4 |
| 1 | g.215743306A>C | CA344835482 | USH2A | c.11419T>G (p.Tyr3807Asp)
| |
| 1 | g.215743306A>G | CA344835485 | USH2A | c.11419T>C (p.Tyr3807His)
| |
| 1 | g.215743306A>T | CA344835499 | USH2A | c.11419T>A (p.Tyr3807Asn)
| COSMIC COSMIC |
| 1 | g.215743307C>A | CA344835514 | USH2A | c.11418G>T (p.Glu3806Asp)
| |
| 1 | g.215743307C>G | CA344835515 | USH2A | c.11418G>C (p.Glu3806Asp)
| |
| 1 | g.215743307C>T | CA423314691 | USH2A | c.11418G>A (p.Glu3806=)
| gnomAD v4 |
| 1 | g.215743308T>A | CA344835516 | USH2A | c.11417A>T (p.Glu3806Val)
| |
| 1 | g.215743308T>C | CA344835520 | USH2A | c.11417A>G (p.Glu3806Gly)
| |
| 1 | g.215743308T>G | CA344835522 | USH2A | c.11417A>C (p.Glu3806Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215743308T= | CA1220402714 | USH2A | c.11417A= (p.Glu3806=)
| |
| 1 | g.215743309C>A | CA344835524 | USH2A | c.11416G>T (p.Glu3806Ter)
| ClinVar COSMIC COSMIC |
| 1 | g.215743309C>G | CA344835528 | USH2A | c.11416G>C (p.Glu3806Gln)
| |
| 1 | g.215743309C>T | CA344835525 | USH2A | c.11416G>A (p.Glu3806Lys)
| gnomAD v4 |
| 1 | g.215743310C>A | CA423314692 | USH2A | c.11415G>T (p.Val3805=)
| |
| 1 | g.215743310C>G | CA423314694 | USH2A | c.11415G>C (p.Val3805=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215743310C>T | CA423314693 | USH2A | c.11415G>A (p.Val3805=)
| COSMIC COSMIC |
| 1 | g.215743311A= | CA1220402715 | USH2A | c.11414T= (p.Val3805=)
| |
| 1 | g.215743311A>C | CA344835529 | USH2A | c.11414T>G (p.Val3805Gly)
| |
| 1 | g.215743311A>G | CA1393708 | USH2A | c.11414T>C (p.Val3805Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215743311A>T | CA344835530 | USH2A | c.11414T>A (p.Val3805Glu)
| |
| 1 | g.215743312C>A | CA344835531 | USH2A | c.11413G>T (p.Val3805Leu)
| |
| 1 | g.215743312C>G | CA344835533 | USH2A | c.11413G>C (p.Val3805Leu)
| |
| 1 | g.215743312C>T | CA344835534 | USH2A | c.11413G>A (p.Val3805Met)
| |
| 1 | g.215743313A>C | CA423314697 | USH2A | c.11412T>G (p.Pro3804=)
| |
| 1 | g.215743313A>G | CA423314696 | USH2A | c.11412T>C (p.Pro3804=)
| |
| 1 | g.215743313A>T | CA423314695 | USH2A | c.11412T>A (p.Pro3804=)
| |
| 1 | g.215743313_215743314delinsAG | CA1220402716 | USH2A | c.11411_11412delinsCT (p.Pro3804=)
| |
| 1 | g.215743314G>A | CA344835537 | USH2A | c.11411C>T (p.Pro3804Leu)
| COSMIC COSMIC |
| 1 | g.215743314G>C | CA344835539 | USH2A | c.11411C>G (p.Pro3804Arg)
| |
| 1 | g.215743314G>T | CA344835543 | USH2A | c.11411C>A (p.Pro3804His)
| COSMIC COSMIC |
| 1 | g.215743314_215743315delinsGG | CA1144229177 | USH2A | c.11410_11411delinsCC (p.Pro3804=)
| |
| 1 | g.215743315del | CA262068 | USH2A | c.11411del (p.Pro3804LeufsTer13)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215743315G>A | CA344835552 | USH2A | c.11410C>T (p.Pro3804Ser)
| COSMIC COSMIC |
| 1 | g.215743315G>C | CA344835550 | USH2A | c.11410C>G (p.Pro3804Ala)
| |
| 1 | g.215743315G>T | CA344835548 | USH2A | c.11410C>A (p.Pro3804Thr)
| |
| 1 | g.215743316A>C | CA344835553 | USH2A | c.11409T>G (p.Ile3803Met)
| |
| 1 | g.215743316A>G | CA423314699 | USH2A | c.11409T>C (p.Ile3803=)
| |
| 1 | g.215743316A>T | CA423314698 | USH2A | c.11409T>A (p.Ile3803=)
| |
| 1 | g.215743317A>C | CA344835555 | USH2A | c.11408T>G (p.Ile3803Ser)
| |
| 1 | g.215743317A>G | CA344835566 | USH2A | c.11408T>C (p.Ile3803Thr)
| |
| 1 | g.215743317A>T | CA344835572 | USH2A | c.11408T>A (p.Ile3803Asn)
| |
| 1 | g.215743318T>A | CA344835576 | USH2A | c.11407A>T (p.Ile3803Phe)
| |
| 1 | g.215743318T>C | CA344835577 | USH2A | c.11407A>G (p.Ile3803Val)
| |
| 1 | g.215743318T>G | CA344835584 | USH2A | c.11407A>C (p.Ile3803Leu)
| |
| 1 | g.215743318_215743319insACAA | CA2573131572 | USH2A | c.11406_11407insTTGT (p.Ile3803LeufsTer12)
| dbSNP |
| 1 | g.215743319T>A | CA344835586 | USH2A | c.11406A>T (p.Glu3802Asp)
| |
| 1 | g.215743319T>C | CA423314700 | USH2A | c.11406A>G (p.Glu3802=)
| |
| 1 | g.215743319T>G | CA344835590 | USH2A | c.11406A>C (p.Glu3802Asp)
| |
| 1 | g.215743320T>A | CA344835602 | USH2A | c.11405A>T (p.Glu3802Val)
| |
| 1 | g.215743320T>C | CA344835609 | USH2A | c.11405A>G (p.Glu3802Gly)
| |
| 1 | g.215743320T>G | CA344835612 | USH2A | c.11405A>C (p.Glu3802Ala)
| |
| 1 | g.215743320_215743322delinsTCG | CA1220402717 | USH2A | c.11403_11405delinsCGA (p.Pro3801=)
| |
| 1 | g.215743320_215743323del | CA2747719589 | USH2A | c.11402_11405del (p.Pro3801GlnfsTer15)
| |
| 1 | g.215743320_215743321insA | CA2573131573 | USH2A | c.11404_11405insT (p.Glu3802ValfsTer12)
| dbSNP |
| 1 | g.215743321C>A | CA344835620 | USH2A | c.11404G>T (p.Glu3802Ter)
| |
| 1 | g.215743321C= | CA1142207831 | USH2A | c.11404G= (p.Glu3802=)
| |
| 1 | g.215743321C>G | CA344835623 | USH2A | c.11404G>C (p.Glu3802Gln)
| |
| 1 | g.215743321C>T | CA143257 | USH2A | c.11404G>A (p.Glu3802Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215743321_215743322delinsAAA | CA658821854 | USH2A | c.11403_11404delinsTTT (p.Glu3802LeufsTer12)
| ClinVar dbSNP |
