Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.215817143C>A | CA262131 | USH2A | c.9424G>T (p.Gly3142Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215817143C= | CA1144229143 | USH2A | c.9424G= (p.Gly3142=) | |
1 | g.215817143C>G | CA37428117 | USH2A | c.9424G>C (p.Gly3142Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215817143C>T | CA344825219 | USH2A | c.9424G>A (p.Gly3142Arg) | gnomAD v4 COSMIC COSMIC |
1 | g.215817144A>C | CA423309013 | USH2A | c.9423T>G (p.Leu3141=) | |
1 | g.215817144A>G | CA423309015 | USH2A | c.9423T>C (p.Leu3141=) | |
1 | g.215817144A>T | CA423309016 | USH2A | c.9423T>A (p.Leu3141=) | |
1 | g.215817145A>C | CA344825222 | USH2A | c.9422T>G (p.Leu3141Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.215817145A>G | CA344825223 | USH2A | c.9422T>C (p.Leu3141Pro) | gnomAD v4 |
1 | g.215817145A>T | CA344825226 | USH2A | c.9422T>A (p.Leu3141His) | |
1 | g.215817146G>A | CA344825230 | USH2A | c.9421C>T (p.Leu3141Phe) | |
1 | g.215817146G>C | CA344825231 | USH2A | c.9421C>G (p.Leu3141Val) | |
1 | g.215817146G>T | CA344825234 | USH2A | c.9421C>A (p.Leu3141Ile) | |
1 | g.215817147A>C | CA344825236 | USH2A | c.9420T>G (p.Ile3140Met) | |
1 | g.215817147A>G | CA423309023 | USH2A | c.9420T>C (p.Ile3140=) | ClinVar dbSNP |
1 | g.215817147A>T | CA423309025 | USH2A | c.9420T>A (p.Ile3140=) | |
1 | g.215817148A= | CA1220434350 | USH2A | c.9419T= (p.Ile3140=) | |
1 | g.215817148A>C | CA344825238 | USH2A | c.9419T>G (p.Ile3140Ser) | |
1 | g.215817148A>G | CA344825243 | USH2A | c.9419T>C (p.Ile3140Thr) | gnomAD v4 |
1 | g.215817148A>T | CA344825241 | USH2A | c.9419T>A (p.Ile3140Asn) | ClinVar dbSNP |
1 | g.215817149T>A | CA344825246 | USH2A | c.9418A>T (p.Ile3140Phe) | |
1 | g.215817149T>C | CA344825250 | USH2A | c.9418A>G (p.Ile3140Val) | dbSNP gnomAD v2 |
1 | g.215817149T>G | CA344825248 | USH2A | c.9418A>C (p.Ile3140Leu) | |
1 | g.215817149T= | CA1220434351 | USH2A | c.9418A= (p.Ile3140=) | |
1 | g.215817150G>A | CA423309037 | USH2A | c.9417C>T (p.Ile3139=) | |
1 | g.215817150G>C | CA344825253 | USH2A | c.9417C>G (p.Ile3139Met) | |
1 | g.215817150G>T | CA423309040 | USH2A | c.9417C>A (p.Ile3139=) | |
1 | g.215817151A>C | CA344825254 | USH2A | c.9416T>G (p.Ile3139Ser) | |
1 | g.215817151A>G | CA344825257 | USH2A | c.9416T>C (p.Ile3139Thr) | |
1 | g.215817151A>T | CA344825260 | USH2A | c.9416T>A (p.Ile3139Asn) | |
1 | g.215817152T>A | CA344825263 | USH2A | c.9415A>T (p.Ile3139Phe) | |
1 | g.215817152T>C | CA1394317 | USH2A | c.9415A>G (p.Ile3139Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215817152T>G | CA344825267 | USH2A | c.9415A>C (p.Ile3139Leu) | |
1 | g.215817152T= | CA1220434352 | USH2A | c.9415A= (p.Ile3139=) | |
1 | g.215817153G>A | CA423309050 | USH2A | c.9414C>T (p.Gly3138=) | ClinVar |
1 | g.215817153G>C | CA423309051 | USH2A | c.9414C>G (p.Gly3138=) | gnomAD v4 |
1 | g.215817153G>T | CA423309053 | USH2A | c.9414C>A (p.Gly3138=) | |
1 | g.215817154C>A | CA344825271 | USH2A | c.9413G>T (p.Gly3138Val) | |
1 | g.215817154C= | CA1220434353 | USH2A | c.9413G= (p.Gly3138=) | |
1 | g.215817154C>G | CA344825273 | USH2A | c.9413G>C (p.Gly3138Ala) | ClinVar dbSNP gnomAD v4 |
1 | g.215817154C>T | CA1394318 | USH2A | c.9413G>A (p.Gly3138Asp) | ClinVar dbSNP ExAC gnomAD v4 |
1 | g.215817155C>A | CA344825282 | USH2A | c.9412G>T (p.Gly3138Cys) | gnomAD v4 |
1 | g.215817155C>G | CA344825279 | USH2A | c.9412G>C (p.Gly3138Arg) | |
1 | g.215817155C>T | CA344825277 | USH2A | c.9412G>A (p.Gly3138Ser) | |
1 | g.215817156A>C | CA344825285 | USH2A | c.9411T>G (p.Asn3137Lys) | |
1 | g.215817156A>G | CA423309062 | USH2A | c.9411T>C (p.Asn3137=) | ClinVar COSMIC COSMIC |
1 | g.215817156A>T | CA344825287 | USH2A | c.9411T>A (p.Asn3137Lys) | |
1 | g.215817157T>A | CA344825289 | USH2A | c.9410A>T (p.Asn3137Ile) | |
1 | g.215817157T>C | CA344825291 | USH2A | c.9410A>G (p.Asn3137Ser) | |
1 | g.215817157T>G | CA344825294 | USH2A | c.9410A>C (p.Asn3137Thr) |