| 1 | g.216070193_216070203dup | CA2586968381 | USH2A | c.5950_5960dup (p.Tyr1987Ter)
| gnomAD v4 |
| 1 | g.216070202A>C | CA344862108 | USH2A | c.5948T>G (p.Val1983Gly)
| |
| 1 | g.216070202A>G | CA344862109 | USH2A | c.5948T>C (p.Val1983Ala)
| |
| 1 | g.216070202A>T | CA344862110 | USH2A | c.5948T>A (p.Val1983Glu)
| |
| 1 | g.216070203C>A | CA344862112 | USH2A | c.5947G>T (p.Val1983Leu)
| |
| 1 | g.216070203C= | CA1144085789 | USH2A | c.5947G= (p.Val1983=)
| |
| 1 | g.216070203C>G | CA344862111 | USH2A | c.5947G>C (p.Val1983Leu)
| |
| 1 | g.216070203C>T | CA37476327 | USH2A | c.5947G>A (p.Val1983Ile)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216070204A>C | CA423319809 | USH2A | c.5946T>G (p.Gly1982=)
| |
| 1 | g.216070204A>G | CA423319810 | USH2A | c.5946T>C (p.Gly1982=)
| ClinVar gnomAD v4 |
| 1 | g.216070204A>T | CA423319811 | USH2A | c.5946T>A (p.Gly1982=)
| |
| 1 | g.216070205C>A | CA37476343 | USH2A | c.5945G>T (p.Gly1982Val)
| ClinVar dbSNP |
| 1 | g.216070205C= | CA1220542805 | USH2A | c.5945G= (p.Gly1982=)
| |
| 1 | g.216070205C>G | CA344862113 | USH2A | c.5945G>C (p.Gly1982Ala)
| |
| 1 | g.216070205C>T | CA1395293 | USH2A | c.5945G>A (p.Gly1982Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216070206dup | CA2580062102 | USH2A | c.5945dup (p.Val1983CysfsTer3)
| ClinVar |
| 1 | g.216070206C>A | CA344862114 | USH2A | c.5944G>T (p.Gly1982Cys)
| dbSNP gnomAD v4 |
| 1 | g.216070206C>G | CA344862115 | USH2A | c.5944G>C (p.Gly1982Arg)
| gnomAD v4 |
| 1 | g.216070206C>T | CA344862116 | USH2A | c.5944G>A (p.Gly1982Ser)
| |
| 1 | g.216070207T>A | CA344862117 | USH2A | c.5943A>T (p.Arg1981Ser)
| |
| 1 | g.216070207T>C | CA423319812 | USH2A | c.5943A>G (p.Arg1981=)
| ClinVar dbSNP |
| 1 | g.216070207T>G | CA344862118 | USH2A | c.5943A>C (p.Arg1981Ser)
| |
| 1 | g.216070208C>A | CA344862119 | USH2A | c.5942G>T (p.Arg1981Ile)
| |
| 1 | g.216070208C>G | CA344862120 | USH2A | c.5942G>C (p.Arg1981Thr)
| |
| 1 | g.216070208C>T | CA344862121 | USH2A | c.5942G>A (p.Arg1981Lys)
| |
| 1 | g.216070209T>A | CA344862122 | USH2A | c.5941A>T (p.Arg1981Ter)
| |
| 1 | g.216070209T>C | CA1395294 | USH2A | c.5941A>G (p.Arg1981Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216070209T>G | CA423319813 | USH2A | c.5941A>C (p.Arg1981=)
| |
| 1 | g.216070209T= | CA1220542806 | USH2A | c.5941A= (p.Arg1981=)
| |
| 1 | g.216070210G>A | CA423319814 | USH2A | c.5940C>T (p.Val1980=)
| |
| 1 | g.216070210G>C | CA423319815 | USH2A | c.5940C>G (p.Val1980=)
| |
| 1 | g.216070210G>T | CA423319816 | USH2A | c.5940C>A (p.Val1980=)
| |
| 1 | g.216070211_216070218del | CA2586968382 | USH2A | c.5933_5940del (p.Pro1978GlnfsTer5)
| gnomAD v4 |
| 1 | g.216070211A>C | CA344862125 | USH2A | c.5939T>G (p.Val1980Gly)
| |
| 1 | g.216070211A>G | CA344862124 | USH2A | c.5939T>C (p.Val1980Ala)
| gnomAD v4 |
| 1 | g.216070211A>T | CA344862123 | USH2A | c.5939T>A (p.Val1980Asp)
| |
| 1 | g.216070212C>A | CA344862128 | USH2A | c.5938G>T (p.Val1980Phe)
| |
| 1 | g.216070212C>G | CA344862126 | USH2A | c.5938G>C (p.Val1980Leu)
| |
| 1 | g.216070212C>T | CA344862127 | USH2A | c.5938G>A (p.Val1980Ile)
| |
| 1 | g.216070213A>C | CA423319817 | USH2A | c.5937T>G (p.Val1979=)
| |
| 1 | g.216070213A>G | CA423319818 | USH2A | c.5937T>C (p.Val1979=)
| |
| 1 | g.216070213A>T | CA423319819 | USH2A | c.5937T>A (p.Val1979=)
| |
| 1 | g.216070214A>C | CA344862129 | USH2A | c.5936T>G (p.Val1979Gly)
| |
| 1 | g.216070214A>G | CA344862130 | USH2A | c.5936T>C (p.Val1979Ala)
| |
| 1 | g.216070214A>T | CA344862131 | USH2A | c.5936T>A (p.Val1979Asp)
| |
| 1 | g.216070215C>A | CA344862132 | USH2A | c.5935G>T (p.Val1979Phe)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216070215C= | CA1220542807 | USH2A | c.5935G= (p.Val1979=)
| |
| 1 | g.216070215C>G | CA344862133 | USH2A | c.5935G>C (p.Val1979Leu)
| gnomAD v4 |
| 1 | g.216070215C>T | CA1395295 | USH2A | c.5935G>A (p.Val1979Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216070216A>C | CA423319820 | USH2A | c.5934T>G (p.Pro1978=)
| |
| 1 | g.216070216A>G | CA423319822 | USH2A | c.5934T>C (p.Pro1978=)
| ClinVar dbSNP |
| 1 | g.216070216A>T | CA423319821 | USH2A | c.5934T>A (p.Pro1978=)
| |
| 1 | g.216070216_216070217delinsAG | CA1220542808 | USH2A | c.5933_5934delinsCT (p.Pro1978=)
| |
| 1 | g.216070217G>A | CA344862134 | USH2A | c.5933C>T (p.Pro1978Leu)
| |
| 1 | g.216070217G>C | CA344862135 | USH2A | c.5933C>G (p.Pro1978Arg)
| dbSNP gnomAD v4 |
| 1 | g.216070217G= | CA1220542809 | USH2A | c.5933C= (p.Pro1978=)
| |
| 1 | g.216070217G>T | CA344862136 | USH2A | c.5933C>A (p.Pro1978His)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216070218del | CA37476367 | USH2A | c.5933del (p.Pro1978LeufsTer6)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216070218G>A | CA182740 | USH2A | c.5932C>T (p.Pro1978Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216070218G>C | CA344862137 | USH2A | c.5932C>G (p.Pro1978Ala)
| |
| 1 | g.216070218G= | CA1140956714 | USH2A | c.5932C= (p.Pro1978=)
| |
| 1 | g.216070218G>T | CA344862138 | USH2A | c.5932C>A (p.Pro1978Thr)
| COSMIC |
| 1 | g.216070219T>A | CA344862140 | USH2A | c.5931A>T (p.Glu1977Asp)
| |
| 1 | g.216070219T>C | CA423319823 | USH2A | c.5931A>G (p.Glu1977=)
| |
| 1 | g.216070219T>G | CA344862139 | USH2A | c.5931A>C (p.Glu1977Asp)
| |
| 1 | g.216070220T>A | CA344862141 | USH2A | c.5930A>T (p.Glu1977Val)
| |
| 1 | g.216070220T>C | CA344862142 | USH2A | c.5930A>G (p.Glu1977Gly)
| |
| 1 | g.216070220T>G | CA344862143 | USH2A | c.5930A>C (p.Glu1977Ala)
| |
| 1 | g.216070221C>A | CA344862144 | USH2A | c.5929G>T (p.Glu1977Ter)
| |
| 1 | g.216070221C= | CA1220542810 | USH2A | c.5929G= (p.Glu1977=)
| |
| 1 | g.216070221C>G | CA344862145 | USH2A | c.5929G>C (p.Glu1977Gln)
| |
| 1 | g.216070221C>T | CA344862146 | USH2A | c.5929G>A (p.Glu1977Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216070222A>C | CA344862148 | USH2A | c.5928T>G (p.Asp1976Glu)
| |
| 1 | g.216070222A>G | CA423319824 | USH2A | c.5928T>C (p.Asp1976=)
| gnomAD v4 |
| 1 | g.216070222A>T | CA344862147 | USH2A | c.5928T>A (p.Asp1976Glu)
| |
| 1 | g.216070223T>A | CA344862149 | USH2A | c.5927A>T (p.Asp1976Val)
| |
| 1 | g.216070223T>C | CA344862150 | USH2A | c.5927A>G (p.Asp1976Gly)
| |
| 1 | g.216070223T>G | CA344862151 | USH2A | c.5927A>C (p.Asp1976Ala)
| |
| 1 | g.216070224C>A | CA344862152 | USH2A | c.5926G>T (p.Asp1976Tyr)
| |
| 1 | g.216070224C>G | CA344862153 | USH2A | c.5926G>C (p.Asp1976His)
| |
| 1 | g.216070224C>T | CA344862154 | USH2A | c.5926G>A (p.Asp1976Asn)
| |
| 1 | g.216070225C>A | CA344862155 | USH2A | c.5925G>T (p.Trp1975Cys)
| |
| 1 | g.216070225C>G | CA344862157 | USH2A | c.5925G>C (p.Trp1975Cys)
| |
| 1 | g.216070225C>T | CA344862156 | USH2A | c.5925G>A (p.Trp1975Ter)
| |
| 1 | g.216070226C>A | CA344862158 | USH2A | c.5924G>T (p.Trp1975Leu)
| gnomAD v4 |
| 1 | g.216070226C>G | CA344862159 | USH2A | c.5924G>C (p.Trp1975Ser)
| |
| 1 | g.216070226C>T | CA344862160 | USH2A | c.5924G>A (p.Trp1975Ter)
| |
| 1 | g.216070227A>C | CA344862161 | USH2A | c.5923T>G (p.Trp1975Gly)
| |
| 1 | g.216070227A>G | CA344862162 | USH2A | c.5923T>C (p.Trp1975Arg)
| |
| 1 | g.216070227A>T | CA344862163 | USH2A | c.5923T>A (p.Trp1975Arg)
| |
| 1 | g.216070228G>A | CA423319825 | USH2A | c.5922C>T (p.Thr1974=)
| |
| 1 | g.216070228G>C | CA423319826 | USH2A | c.5922C>G (p.Thr1974=)
| |
| 1 | g.216070228G>T | CA423319827 | USH2A | c.5922C>A (p.Thr1974=)
| |
| 1 | g.216070229del | CA2650508942 | USH2A | c.5922del (p.Trp1975GlyfsTer9)
| gnomAD v4 |
| 1 | g.216070229G>A | CA344862164 | USH2A | c.5921C>T (p.Thr1974Ile)
| ClinVar dbSNP |
| 1 | g.216070229G>C | CA344862165 | USH2A | c.5921C>G (p.Thr1974Ser)
| |
| 1 | g.216070229G= | CA1220542811 | USH2A | c.5921C= (p.Thr1974=)
| |
| 1 | g.216070229G>T | CA344862166 | USH2A | c.5921C>A (p.Thr1974Asn)
| |
| 1 | g.216070230T>A | CA344862167 | USH2A | c.5920A>T (p.Thr1974Ser)
| |
| 1 | g.216070230T>C | CA344862168 | USH2A | c.5920A>G (p.Thr1974Ala)
| |
| 1 | g.216070230T>G | CA344862169 | USH2A | c.5920A>C (p.Thr1974Pro)
| |
| 1 | g.216070231C>A | CA423319828 | USH2A | c.5919G>T (p.Val1973=)
| |
| 1 | g.216070231C>G | CA423319829 | USH2A | c.5919G>C (p.Val1973=)
| gnomAD v4 |
| 1 | g.216070231C>T | CA423319830 | USH2A | c.5919G>A (p.Val1973=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216070232A>C | CA344862172 | USH2A | c.5918T>G (p.Val1973Gly)
| |
| 1 | g.216070232A>G | CA344862170 | USH2A | c.5918T>C (p.Val1973Ala)
| |
| 1 | g.216070232A>T | CA344862171 | USH2A | c.5918T>A (p.Val1973Glu)
| |
| 1 | g.216070233C>A | CA37476370 | USH2A | c.5917G>T (p.Val1973Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216070233C= | CA1220542812 | USH2A | c.5917G= (p.Val1973=)
| |
| 1 | g.216070233C>G | CA344862173 | USH2A | c.5917G>C (p.Val1973Leu)
| |
| 1 | g.216070233C>T | CA1395296 | USH2A | c.5917G>A (p.Val1973Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216070234C>A | CA344862174 | USH2A | c.5916G>T (p.Glu1972Asp)
| |
| 1 | g.216070234C= | CA1220542813 | USH2A | c.5916G= (p.Glu1972=)
| |
| 1 | g.216070234C>G | CA344862175 | USH2A | c.5916G>C (p.Glu1972Asp)
| COSMIC COSMIC |
| 1 | g.216070234C>T | CA423319831 | USH2A | c.5916G>A (p.Glu1972=)
| ClinVar dbSNP |
| 1 | g.216070235T>A | CA344862176 | USH2A | c.5915A>T (p.Glu1972Val)
| |
| 1 | g.216070235T>C | CA344862177 | USH2A | c.5915A>G (p.Glu1972Gly)
| |
| 1 | g.216070235T>G | CA344862178 | USH2A | c.5915A>C (p.Glu1972Ala)
| |
| 1 | g.216070236C>A | CA344862179 | USH2A | c.5914G>T (p.Glu1972Ter)
| |
| 1 | g.216070236C>G | CA344862180 | USH2A | c.5914G>C (p.Glu1972Gln)
| |
| 1 | g.216070236C>T | CA344862181 | USH2A | c.5914G>A (p.Glu1972Lys)
| dbSNP |
| 1 | g.216070237A>C | CA344862182 | USH2A | c.5913T>G (p.Ile1971Met)
| |
| 1 | g.216070237A>G | CA423319834 | USH2A | c.5913T>C (p.Ile1971=)
| |
| 1 | g.216070237A>T | CA423319833 | USH2A | c.5913T>A (p.Ile1971=)
| |
| 1 | g.216070238A= | CA1220542814 | USH2A | c.5912T= (p.Ile1971=)
| |
| 1 | g.216070238A>C | CA344862184 | USH2A | c.5912T>G (p.Ile1971Ser)
| |
| 1 | g.216070238A>G | CA1395297 | USH2A | c.5912T>C (p.Ile1971Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216070238A>T | CA344862183 | USH2A | c.5912T>A (p.Ile1971Asn)
| |
| 1 | g.216070239T>A | CA344862185 | USH2A | c.5911A>T (p.Ile1971Phe)
| |
| 1 | g.216070239T>C | CA344862187 | USH2A | c.5911A>G (p.Ile1971Val)
| dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.216070239T>G | CA344862186 | USH2A | c.5911A>C (p.Ile1971Leu)
| |
| 1 | g.216070239T= | CA1220542815 | USH2A | c.5911A= (p.Ile1971=)
| |
| 1 | g.216070240G>A | CA423319835 | USH2A | c.5910C>T (p.Ser1970=)
| |
| 1 | g.216070240G>C | CA344862188 | USH2A | c.5910C>G (p.Ser1970Arg)
| |
| 1 | g.216070240G>T | CA344862189 | USH2A | c.5910C>A (p.Ser1970Arg)
| |
| 1 | g.216070241C>A | CA344862190 | USH2A | c.5909G>T (p.Ser1970Ile)
| |
| 1 | g.216070241C= | CA1220542816 | USH2A | c.5909G= (p.Ser1970=)
| |
| 1 | g.216070241C>G | CA344862191 | USH2A | c.5909G>C (p.Ser1970Thr)
| |
| 1 | g.216070241C>T | CA344862192 | USH2A | c.5909G>A (p.Ser1970Asn)
| dbSNP |
| 1 | g.216070242T>A | CA344862193 | USH2A | c.5908A>T (p.Ser1970Cys)
| |
| 1 | g.216070242T>C | CA344862194 | USH2A | c.5908A>G (p.Ser1970Gly)
| |
| 1 | g.216070242T>G | CA344862195 | USH2A | c.5908A>C (p.Ser1970Arg)
| |
| 1 | g.216070243G>A | CA423319836 | USH2A | c.5907C>T (p.Tyr1969=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216070243G>C | CA37476382 | USH2A | c.5907C>G (p.Tyr1969Ter)
| dbSNP |
| 1 | g.216070243G= | CA1220542817 | USH2A | c.5907C= (p.Tyr1969=)
| |
| 1 | g.216070243G>T | CA344862196 | USH2A | c.5907C>A (p.Tyr1969Ter)
| |
| 1 | g.216070244T>A | CA344862197 | USH2A | c.5906A>T (p.Tyr1969Phe)
| |
| 1 | g.216070244T>C | CA344862198 | USH2A | c.5906A>G (p.Tyr1969Cys)
| |
| 1 | g.216070244T>G | CA344862199 | USH2A | c.5906A>C (p.Tyr1969Ser)
| |
| 1 | g.216070245A>C | CA344862202 | USH2A | c.5905T>G (p.Tyr1969Asp)
| |
| 1 | g.216070245A>G | CA344862201 | USH2A | c.5905T>C (p.Tyr1969His)
| |
| 1 | g.216070245A>T | CA344862200 | USH2A | c.5905T>A (p.Tyr1969Asn)
| |
| 1 | g.216070246T>A | CA1395298 | USH2A | c.5904A>T (p.Gly1968=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216070246T>C | CA423319837 | USH2A | c.5904A>G (p.Gly1968=)
| |
| 1 | g.216070246T>G | CA423319838 | USH2A | c.5904A>C (p.Gly1968=)
| |
| 1 | g.216070246T= | CA1220542818 | USH2A | c.5904A= (p.Gly1968=)
| |
| 1 | g.216070247C>A | CA344862203 | USH2A | c.5903G>T (p.Gly1968Val)
| |
| 1 | g.216070247C>G | CA344862204 | USH2A | c.5903G>C (p.Gly1968Ala)
| gnomAD v4 |
| 1 | g.216070247C>T | CA344862205 | USH2A | c.5903G>A (p.Gly1968Glu)
| |
| 1 | g.216070248del | CA2695200001 | USH2A | c.5903del (p.Gly1968AspfsTer6)
| ClinVar |
| 1 | g.216070248C>A | CA344862206 | USH2A | c.5902G>T (p.Gly1968Ter)
| ClinVar |
| 1 | g.216070248C>G | CA344862207 | USH2A | c.5902G>C (p.Gly1968Arg)
| |
| 1 | g.216070248C>T | CA344862208 | USH2A | c.5902G>A (p.Gly1968Arg)
| COSMIC COSMIC |
| 1 | g.216070249A>C | CA344862209 | USH2A | c.5901T>G (p.Asn1967Lys)
| |
| 1 | g.216070249A>G | CA423319839 | USH2A | c.5901T>C (p.Asn1967=)
| |
| 1 | g.216070249A>T | CA344862210 | USH2A | c.5901T>A (p.Asn1967Lys)
| |
| 1 | g.216070250T>A | CA344862211 | USH2A | c.5900A>T (p.Asn1967Ile)
| |
| 1 | g.216070250T>C | CA344862212 | USH2A | c.5900A>G (p.Asn1967Ser)
| |
| 1 | g.216070250T>G | CA344862213 | USH2A | c.5900A>C (p.Asn1967Thr)
| |
| 1 | g.216070251_216070252del | CA2586968383 | USH2A | c.5899_5900del (p.Asn1967TrpfsTer5)
| gnomAD v4 |
| 1 | g.216070251T>A | CA344862216 | USH2A | c.5899A>T (p.Asn1967Tyr)
| |
| 1 | g.216070251T>C | CA344862215 | USH2A | c.5899A>G (p.Asn1967Asp)
| |
| 1 | g.216070251T>G | CA344862214 | USH2A | c.5899A>C (p.Asn1967His)
| |
| 1 | g.216070252T>A | CA344862217 | USH2A | c.5898A>T (p.Leu1966Phe)
| |
| 1 | g.216070252T>C | CA423319840 | USH2A | c.5898A>G (p.Leu1966=)
| ClinVar dbSNP |
| 1 | g.216070252T>G | CA344862218 | USH2A | c.5898A>C (p.Leu1966Phe)
| |
| 1 | g.216070253A>C | CA344862219 | USH2A | c.5897T>G (p.Leu1966Ter)
| gnomAD v4 |
| 1 | g.216070253A>G | CA344862220 | USH2A | c.5897T>C (p.Leu1966Ser)
| gnomAD v4 |
| 1 | g.216070253A>T | CA344862221 | USH2A | c.5897T>A (p.Leu1966Ter)
| |
| 1 | g.216070254A>C | CA344862222 | USH2A | c.5896T>G (p.Leu1966Val)
| |
| 1 | g.216070254A>G | CA423319841 | USH2A | c.5896T>C (p.Leu1966=)
| ClinVar |
| 1 | g.216070254A>T | CA344862223 | USH2A | c.5896T>A (p.Leu1966Ile)
| |
| 1 | g.216070255G>A | CA423319842 | USH2A | c.5895C>T (p.Ser1965=)
| |
| 1 | g.216070255G>C | CA1395299 | USH2A | c.5895C>G (p.Ser1965Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216070255G= | CA1220542819 | USH2A | c.5895C= (p.Ser1965=)
| |
| 1 | g.216070255G>T | CA344862224 | USH2A | c.5895C>A (p.Ser1965Arg)
| |
| 1 | g.216070256C>A | CA344862225 | USH2A | c.5894G>T (p.Ser1965Ile)
| |
| 1 | g.216070256C= | CA1220542820 | USH2A | c.5894G= (p.Ser1965=)
| |
| 1 | g.216070256C>G | CA344862226 | USH2A | c.5894G>C (p.Ser1965Thr)
| |
| 1 | g.216070256C>T | CA344862227 | USH2A | c.5894G>A (p.Ser1965Asn)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216070257T>A | CA344862230 | USH2A | c.5893A>T (p.Ser1965Cys)
| |
| 1 | g.216070257T>C | CA344862229 | USH2A | c.5893A>G (p.Ser1965Gly)
| |
| 1 | g.216070257T>G | CA344862228 | USH2A | c.5893A>C (p.Ser1965Arg)
| |
| 1 | g.216070258G>A | CA423319845 | USH2A | c.5892C>T (p.Arg1964=)
| |
| 1 | g.216070258G>C | CA423319844 | USH2A | c.5892C>G (p.Arg1964=)
| |
| 1 | g.216070258G>T | CA423319843 | USH2A | c.5892C>A (p.Arg1964=)
| |
| 1 | g.216070259C>A | CA1395301 | USH2A | c.5891G>T (p.Arg1964Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.216070259C= | CA1142304150 | USH2A | c.5891G= (p.Arg1964=)
| |
| 1 | g.216070259C>G | CA344862231 | USH2A | c.5891G>C (p.Arg1964Pro)
| |
| 1 | g.216070259C>T | CA1395300 | USH2A | c.5891G>A (p.Arg1964His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216070260G>A | CA1395302 | USH2A | c.5890C>T (p.Arg1964Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216070260G>C | CA344862232 | USH2A | c.5890C>G (p.Arg1964Gly)
| |
| 1 | g.216070260G= | CA1142216454 | USH2A | c.5890C= (p.Arg1964=)
| |
| 1 | g.216070260G>T | CA344862233 | USH2A | c.5890C>A (p.Arg1964Ser)
| gnomAD v4 |
| 1 | g.216070261G>A | CA37476418 | USH2A | c.5889C>T (p.Val1963=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216070261G>C | CA423319847 | USH2A | c.5889C>G (p.Val1963=)
| |
| 1 | g.216070261G= | CA1146625372 | USH2A | c.5889C= (p.Val1963=)
| |
| 1 | g.216070261G>T | CA423319846 | USH2A | c.5889C>A (p.Val1963=)
| |
| 1 | g.216070262A>C | CA344862234 | USH2A | c.5888T>G (p.Val1963Gly)
| |
| 1 | g.216070262A>G | CA344862235 | USH2A | c.5888T>C (p.Val1963Ala)
| |
| 1 | g.216070262A>T | CA344862236 | USH2A | c.5888T>A (p.Val1963Asp)
| |
| 1 | g.216070263C>A | CA1395303 | USH2A | c.5887G>T (p.Val1963Phe)
| dbSNP ExAC |
| 1 | g.216070263C= | CA1220542821 | USH2A | c.5887G= (p.Val1963=)
| |
| 1 | g.216070263C>G | CA344862237 | USH2A | c.5887G>C (p.Val1963Leu)
| |
| 1 | g.216070263C>T | CA344862238 | USH2A | c.5887G>A (p.Val1963Ile)
| |
| 1 | g.216070264T>A | CA344862239 | USH2A | c.5886A>T (p.Arg1962Ser)
| dbSNP |
| 1 | g.216070264T>C | CA423319851 | USH2A | c.5886A>G (p.Arg1962=)
| |
| 1 | g.216070264T>G | CA1395304 | USH2A | c.5886A>C (p.Arg1962Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216070264T= | CA1220542822 | USH2A | c.5886A= (p.Arg1962=)
| |
| 1 | g.216070265_216070267del | CA913072805 | USH2A | c.5884_5886del (p.Arg1962del)
| |
| 1 | g.216070265C>A | CA344862240 | USH2A | c.5885G>T (p.Arg1962Ile)
| |
| 1 | g.216070265C= | CA1220542823 | USH2A | c.5885G= (p.Arg1962=)
| |
| 1 | g.216070265C>G | CA344862241 | USH2A | c.5885G>C (p.Arg1962Thr)
| gnomAD v4 |
| 1 | g.216070265C>T | CA344862242 | USH2A | c.5885G>A (p.Arg1962Lys)
| dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.216070265_216070267delinsCTT | CA1220542824 | USH2A | c.5883_5885delinsAAG (p.Ser1961=)
| |
| 1 | g.216070266T>A | CA344862243 | USH2A | c.5884A>T (p.Arg1962Ter)
| |
| 1 | g.216070266T>C | CA344862244 | USH2A | c.5884A>G (p.Arg1962Gly)
| |
| 1 | g.216070266T>G | CA423319852 | USH2A | c.5884A>C (p.Arg1962=)
| |
| 1 | g.216070266_216070267del | CA658822729 | USH2A | c.5883_5884del (p.Arg1962SerfsTer10)
| ClinVar dbSNP |
| 1 | g.216070267T>A | CA423319853 | USH2A | c.5883A>T (p.Ser1961=)
| |
| 1 | g.216070267T>C | CA1395305 | USH2A | c.5883A>G (p.Ser1961=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216070267T>G | CA423319854 | USH2A | c.5883A>C (p.Ser1961=)
| ClinVar dbSNP |
| 1 | g.216070267T= | CA1148481928 | USH2A | c.5883A= (p.Ser1961=)
| |
| 1 | g.216070268G>A | CA1395306 | USH2A | c.5882C>T (p.Ser1961Leu)
| dbSNP ExAC gnomAD v2 |
| 1 | g.216070268G>C | CA344862246 | USH2A | c.5882C>G (p.Ser1961Ter)
| |
| 1 | g.216070268G= | CA1220542825 | USH2A | c.5882C= (p.Ser1961=)
| |
| 1 | g.216070268G>T | CA344862245 | USH2A | c.5882C>A (p.Ser1961Ter)
| |
| 1 | g.216070269A= | CA1220542826 | USH2A | c.5881T= (p.Ser1961=)
| |
| 1 | g.216070269A>C | CA344862247 | USH2A | c.5881T>G (p.Ser1961Ala)
| gnomAD v4 |
| 1 | g.216070269A>G | CA344862248 | USH2A | c.5881T>C (p.Ser1961Pro)
| |
| 1 | g.216070269A>T | CA1395307 | USH2A | c.5881T>A (p.Ser1961Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216070270G>A | CA423319858 | USH2A | c.5880C>T (p.Pro1960=)
| ClinVar gnomAD v3 gnomAD v4 |
| 1 | g.216070270G>C | CA423319859 | USH2A | c.5880C>G (p.Pro1960=)
| |
| 1 | g.216070270G>T | CA423319857 | USH2A | c.5880C>A (p.Pro1960=)
| |
| 1 | g.216070271G>A | CA37476439 | USH2A | c.5879C>T (p.Pro1960Leu)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216070271G>C | CA344862249 | USH2A | c.5879C>G (p.Pro1960Arg)
| |
| 1 | g.216070271G= | CA1220542827 | USH2A | c.5879C= (p.Pro1960=)
| |
| 1 | g.216070271G>T | CA344862250 | USH2A | c.5879C>A (p.Pro1960His)
| |
| 1 | g.216070272G>A | CA344862251 | USH2A | c.5878C>T (p.Pro1960Ser)
| |
| 1 | g.216070272G>C | CA344862253 | USH2A | c.5878C>G (p.Pro1960Ala)
| |
| 1 | g.216070272G>T | CA344862252 | USH2A | c.5878C>A (p.Pro1960Thr)
| COSMIC COSMIC |
| 1 | g.216070272_216070273delinsGA | CA1220542828 | USH2A | c.5877_5878delinsTC (p.Thr1959=)
| |
| 1 | g.216070273del | CA273678 | USH2A | c.5877del (p.Ser1961GlnfsTer6)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216070273A= | CA1148224987 | USH2A | c.5877T= (p.Thr1959=)
| |
| 1 | g.216070273A>C | CA423319861 | USH2A | c.5877T>G (p.Thr1959=)
| dbSNP gnomAD v2 |
| 1 | g.216070273A>G | CA423319862 | USH2A | c.5877T>C (p.Thr1959=)
| |
| 1 | g.216070273A>T | CA423319864 | USH2A | c.5877T>A (p.Thr1959=)
| |
| 1 | g.216070274del | CA344862256 | USH2A | c.5876del (p.Thr1959IlefsTer8)
| |
| 1 | g.216070274G>A | CA1395308 | USH2A | c.5876C>T (p.Thr1959Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216070274G>C | CA344862254 | USH2A | c.5876C>G (p.Thr1959Ser)
| |
| 1 | g.216070274G= | CA1147424996 | USH2A | c.5876C= (p.Thr1959=)
| |
| 1 | g.216070274G>T | CA344862255 | USH2A | c.5876C>A (p.Thr1959Asn)
| |
| 1 | g.216070275T>A | CA1395309 | USH2A | c.5875A>T (p.Thr1959Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216070275T>C | CA344862257 | USH2A | c.5875A>G (p.Thr1959Ala)
| |
| 1 | g.216070275T>G | CA344862258 | USH2A | c.5875A>C (p.Thr1959Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216070275T= | CA1143940774 | USH2A | c.5875A= (p.Thr1959=)
| |
| 1 | g.216070276T>A | CA423319866 | USH2A | c.5874A>T (p.Pro1958=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216070276T>C | CA1395310 | USH2A | c.5874A>G (p.Pro1958=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216070276T>G | CA423319869 | USH2A | c.5874A>C (p.Pro1958=)
| |
| 1 | g.216070276T= | CA1148405521 | USH2A | c.5874A= (p.Pro1958=)
| |
| 1 | g.216070277G>A | CA344862259 | USH2A | c.5873C>T (p.Pro1958Leu)
| |
| 1 | g.216070277G>C | CA344862260 | USH2A | c.5873C>G (p.Pro1958Arg)
| |
| 1 | g.216070277G>T | CA344862261 | USH2A | c.5873C>A (p.Pro1958Gln)
| |
| 1 | g.216070278G>A | CA344862262 | USH2A | c.5872C>T (p.Pro1958Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216070278G>C | CA344862264 | USH2A | c.5872C>G (p.Pro1958Ala)
| |
| 1 | g.216070278G= | CA1220542829 | USH2A | c.5872C= (p.Pro1958=)
| |
| 1 | g.216070278G>T | CA344862263 | USH2A | c.5872C>A (p.Pro1958Thr)
| dbSNP |
| 1 | g.216070279C>A | CA423319870 | USH2A | c.5871G>T (p.Val1957=)
| ClinVar dbSNP |
| 1 | g.216070279C>G | CA423319871 | USH2A | c.5871G>C (p.Val1957=)
| |
| 1 | g.216070279C>T | CA423319873 | USH2A | c.5871G>A (p.Val1957=)
| |
| 1 | g.216070282_216070283del | CA2580611227 | USH2A | c.5870_5871del (p.Val1957AlafsTer15)
| ClinVar |
| 1 | g.216070280A= | CA1220542830 | USH2A | c.5870T= (p.Val1957=)
| |
| 1 | g.216070280A>C | CA344862265 | USH2A | c.5870T>G (p.Val1957Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216070280A>G | CA344862266 | USH2A | c.5870T>C (p.Val1957Ala)
| |
| 1 | g.216070280A>T | CA344862267 | USH2A | c.5870T>A (p.Val1957Glu)
| |
| 1 | g.216070281C>A | CA344862268 | USH2A | c.5869G>T (p.Val1957Leu)
| gnomAD v4 |
| 1 | g.216070281C>G | CA344862269 | USH2A | c.5869G>C (p.Val1957Leu)
| |
| 1 | g.216070281C>T | CA344862270 | USH2A | c.5869G>A (p.Val1957Met)
| gnomAD v4 |
| 1 | g.216070282A>C | CA344862271 | USH2A | c.5868T>G (p.Ser1956Arg)
| |
| 1 | g.216070282A>G | CA423319874 | USH2A | c.5868T>C (p.Ser1956=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216070282A>T | CA344862272 | USH2A | c.5868T>A (p.Ser1956Arg)
| |
| 1 | g.216070283C>A | CA344862273 | USH2A | c.5867G>T (p.Ser1956Ile)
| |
| 1 | g.216070283C>G | CA344862274 | USH2A | c.5867G>C (p.Ser1956Thr)
| |
| 1 | g.216070283C>T | CA344862275 | USH2A | c.5867G>A (p.Ser1956Asn)
| |
| 1 | g.216070283_216070284delinsCT | CA1220542831 | USH2A | c.5866_5867delinsAG (p.Ser1956=)
| |
| 1 | g.216070284T>A | CA344862278 | USH2A | c.5866A>T (p.Ser1956Cys)
| dbSNP gnomAD v4 |
| 1 | g.216070284T>C | CA344862277 | USH2A | c.5866A>G (p.Ser1956Gly)
| |
| 1 | g.216070284T>G | CA344862276 | USH2A | c.5866A>C (p.Ser1956Arg)
| |
| 1 | g.216070284T= | CA1220542832 | USH2A | c.5866A= (p.Ser1956=)
| |
| 1 | g.216070286del | CA1395311 | USH2A | c.5866del (p.Ser1956ValfsTer11)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216070285_216070286del | CA2740090309 | USH2A | c.5865_5866del (p.Ser1956CysfsTer16)
| ClinVar |
| 1 | g.216070285T>A | CA344862279 | USH2A | c.5865A>T (p.Gln1955His)
| |
| 1 | g.216070285T>C | CA1395312 | USH2A | c.5865A>G (p.Gln1955=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216070285T>G | CA344862280 | USH2A | c.5865A>C (p.Gln1955His)
| |
| 1 | g.216070285T= | CA1220542833 | USH2A | c.5865A= (p.Gln1955=)
| |
| 1 | g.216070286T>A | CA344862281 | USH2A | c.5864A>T (p.Gln1955Leu)
| |
| 1 | g.216070286T>C | CA344862282 | USH2A | c.5864A>G (p.Gln1955Arg)
| gnomAD v4 |
| 1 | g.216070286T>G | CA344862283 | USH2A | c.5864A>C (p.Gln1955Pro)
| |
| 1 | g.216070287G>A | CA344862284 | USH2A | c.5863C>T (p.Gln1955Ter)
| |
| 1 | g.216070287G>C | CA344862285 | USH2A | c.5863C>G (p.Gln1955Glu)
| |
| 1 | g.216070287G>T | CA344862286 | USH2A | c.5863C>A (p.Gln1955Lys)
| |
| 1 | g.216070288T>A | CA423319876 | USH2A | c.5862A>T (p.Pro1954=)
| |
| 1 | g.216070288T>C | CA423319877 | USH2A | c.5862A>G (p.Pro1954=)
| |
| 1 | g.216070288T>G | CA423319878 | USH2A | c.5862A>C (p.Pro1954=)
| |
| 1 | g.216070289G>A | CA344862287 | USH2A | c.5861C>T (p.Pro1954Leu)
| COSMIC COSMIC |
| 1 | g.216070289G>C | CA344862288 | USH2A | c.5861C>G (p.Pro1954Arg)
| |
| 1 | g.216070289G>T | CA344862289 | USH2A | c.5861C>A (p.Pro1954Gln)
| |
| 1 | g.216070290G>A | CA344862290 | USH2A | c.5860C>T (p.Pro1954Ser)
| |
| 1 | g.216070290G>C | CA344862292 | USH2A | c.5860C>G (p.Pro1954Ala)
| |
| 1 | g.216070290G>T | CA344862291 | USH2A | c.5860C>A (p.Pro1954Thr)
| |
| 1 | g.216070291del | CA2747729344 | USH2A | c.5859del (p.Pro1954HisfsTer13)
| |
| 1 | g.216070291A>C | CA423319879 | USH2A | c.5859T>G (p.Ala1953=)
| |
| 1 | g.216070291A>G | CA423319880 | USH2A | c.5859T>C (p.Ala1953=)
| |
| 1 | g.216070291A>T | CA423319881 | USH2A | c.5859T>A (p.Ala1953=)
| ClinVar dbSNP |
| 1 | g.216070292G>A | CA344862293 | USH2A | c.5858C>T (p.Ala1953Val)
| |
| 1 | g.216070292G>C | CA143534 | USH2A | c.5858C>G (p.Ala1953Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216070292G= | CA1140612990 | USH2A | c.5858C= (p.Ala1953=)
| |
| 1 | g.216070292G>T | CA344862294 | USH2A | c.5858C>A (p.Ala1953Asp)
| COSMIC COSMIC |
| 1 | g.216070293C>A | CA344862295 | USH2A | c.5858-1G>T (n.5858-1G>T)
| |
| 1 | g.216070293C= | CA1144229181 | USH2A | c.5858-1G= (n.5858-1G=)
| |
| 1 | g.216070293C>G | CA344862296 | USH2A | c.5858-1G>C (n.5858-1G>C)
| |
| 1 | g.216070293C>T | CA262110 | USH2A | c.5858-1G>A (n.5858-1G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216070294T>A | CA344862297 | USH2A | c.5858-2A>T (n.5858-2A>T)
| |
| 1 | g.216070294T>C | CA344862299 | USH2A | c.5858-2A>G (n.5858-2A>G)
| |
| 1 | g.216070294T>G | CA344862298 | USH2A | c.5858-2A>C (n.5858-2A>C)
| |
| 1 | g.216070296T>G | CA37476505 | USH2A | c.5858-4A>C (n.5858-4A>C)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216070296T= | CA1220542834 | USH2A | c.5858-4A= (n.5858-4A=)
| |
| 1 | g.216070298A>G | CA2555295528 | USH2A | c.5858-6T>C (n.5858-6T>C)
| |
| 1 | g.216070300G>A | CA1395313 | USH2A | c.5858-8C>T (n.5858-8C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216070300G>C | CA2524877653 | USH2A | c.5858-8C>G (n.5858-8C>G)
| |
| 1 | g.216070300G= | CA1220542835 | USH2A | c.5858-8C= (n.5858-8C=)
| |
| 1 | g.216070301G>A | CA528723796 | USH2A | c.5858-9C>T (n.5858-9C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216070301G= | CA1220542836 | USH2A | c.5858-9C= (n.5858-9C=)
| |
| 1 | g.216070302A>G | CA2542433341 | USH2A | c.5858-10T>C (n.5858-10T>C)
| |
