| 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)
| |
| 1 | g.216070303A= | CA1220542837 | USH2A | c.5858-11T= (n.5858-11T=)
| |
| 1 | g.216070303A>G | CA1395314 | USH2A | c.5858-11T>C (n.5858-11T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216070304T>C | CA179556 | USH2A | c.5858-12A>G (n.5858-12A>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216070304T= | CA1148224988 | USH2A | c.5858-12A= (n.5858-12A=)
| |
| 1 | g.216070305A>G | CA2501030323 | USH2A | c.5858-13T>C (n.5858-13T>C)
| |
| 1 | g.216070306A= | CA1220542839 | USH2A | c.5858-14T= (n.5858-14T=)
| |
| 1 | g.216070306A>C | CA1395315 | USH2A | c.5858-14T>G (n.5858-14T>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216070306A>G | CA1220542838 | USH2A | c.5858-14T>C (n.5858-14T>C)
| dbSNP |
| 1 | g.216070307A= | CA1220542840 | USH2A | c.5858-15T= (n.5858-15T=)
| |
| 1 | g.216070307A>C | CA528723798 | USH2A | c.5858-15T>G (n.5858-15T>G)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216070309G>A | CA2747729345 | USH2A | c.5858-17C>T (n.5858-17C>T)
| |
| 1 | g.216070309G>C | CA2574001291 | USH2A | c.5858-17C>G (n.5858-17C>G)
| gnomAD v4 |
| 1 | g.216070309G>T | CA2565626706 | USH2A | c.5858-17C>A (n.5858-17C>A)
| |
| 1 | g.216070310A= | CA1220542841 | USH2A | c.5858-18T= (n.5858-18T=)
| |
| 1 | g.216070310A>G | CA1012220308 | USH2A | c.5858-18T>C (n.5858-18T>C)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216070310A>T | CA2650508943 | USH2A | c.5858-18T>A (n.5858-18T>A)
| gnomAD v4 |
| 1 | g.216070311G>T | CA2523314340 | USH2A | c.5858-19C>A (n.5858-19C>A)
| gnomAD v4 |
| 1 | g.216070313A= | CA1220542842 | USH2A | c.5858-21T= (n.5858-21T=)
| |
| 1 | g.216070313A>T | CA1220542843 | USH2A | c.5858-21T>A (n.5858-21T>A)
| dbSNP |
| 1 | g.216070316T>C | CA1395316 | USH2A | c.5858-24A>G (n.5858-24A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216070316T= | CA1143616362 | USH2A | c.5858-24A= (n.5858-24A=)
| |
| 1 | g.216070319G>A | CA1220542844 | USH2A | c.5858-27C>T (n.5858-27C>T)
| dbSNP |
| 1 | g.216070319G= | CA1220542845 | USH2A | c.5858-27C= (n.5858-27C=)
| |
| 1 | g.216070320G>C | CA2536507360 | USH2A | c.5858-28C>G (n.5858-28C>G)
| |
| 1 | g.216070324del | CA2574001297 | USH2A | c.5858-29del (n.5858-29del)
| |
| 1 | g.216070322A>C | CA2747729346 | USH2A | c.5858-30T>G (n.5858-30T>G)
| |
| 1 | g.216070322A>G | CA2504132008 | USH2A | c.5858-30T>C (n.5858-30T>C)
| |
| 1 | g.216070324A>C | CA2517527931 | USH2A | c.5858-32T>G (n.5858-32T>G)
| |
| 1 | g.216070324A>G | CA2650508944 | USH2A | c.5858-32T>C (n.5858-32T>C)
| gnomAD v4 |
| 1 | g.216070325T>C | CA1395317 | USH2A | c.5858-33A>G (n.5858-33A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216070325T= | CA1143795240 | USH2A | c.5858-33A= (n.5858-33A=)
| |
| 1 | g.216070325_216070326del | CA2747729347 | USH2A | c.5858-34_5858-33del (n.5858-34_5858-33del)
| |
| 1 | g.216070326G>A | CA2574001302 | USH2A | c.5858-34C>T (n.5858-34C>T)
| gnomAD v4 |
| 1 | g.216070326G>C | CA528723806 | USH2A | c.5858-34C>G (n.5858-34C>G)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216070326G= | CA1220542846 | USH2A | c.5858-34C= (n.5858-34C=)
| |
| 1 | g.216070326G>T | CA1395318 | USH2A | c.5858-34C>A (n.5858-34C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216070326_216070328del | CA2747729348 | USH2A | c.5858-36_5858-34del (n.5858-36_5858-34del)
| |
| 1 | g.216070327G>A | CA528723807 | USH2A | c.5858-35C>T (n.5858-35C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216070327G= | CA1220542847 | USH2A | c.5858-35C= (n.5858-35C=)
| |
| 1 | g.216070328C>A | CA2698019192 | USH2A | c.5858-36G>T (n.5858-36G>T)
| dbSNP |
| 1 | g.216070328C>T | CA2650508945 | USH2A | c.5858-36G>A (n.5858-36G>A)
| gnomAD v4 |
| 1 | g.216070329_216070330insCAC | CA2747729349 | USH2A | c.5858-38_5858-37insGTG (n.5858-38_5858-37insGTG)
| |
| 1 | g.216070330G>A | CA731417438 | USH2A | c.5858-38C>T (n.5858-38C>T)
| dbSNP |
| 1 | g.216070330G= | CA1220542848 | USH2A | c.5858-38C= (n.5858-38C=)
| |
| 1 | g.216070331_216070335del | CA2747729350 | USH2A | c.5858-42_5858-38del (n.5858-42_5858-38del)
| |
| 1 | g.216070331T>A | CA2747729351 | USH2A | c.5858-39A>T (n.5858-39A>T)
| |
| 1 | g.216070334_216070338del | CA2747729352 | USH2A | c.5858-46_5858-42del (n.5858-46_5858-42del)
| |
| 1 | g.216070335G>A | CA2519653059 | USH2A | c.5858-43C>T (n.5858-43C>T)
| |
| 1 | g.216070335G>T | CA2574001318 | USH2A | c.5858-43C>A (n.5858-43C>A)
| |
| 1 | g.216070336A= | CA1143988824 | USH2A | c.5858-44T= (n.5858-44T=)
| |
| 1 | g.216070336A>T | CA1395319 | USH2A | c.5858-44T>A (n.5858-44T>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216070338A>G | CA2548820040 | USH2A | c.5858-46T>C (n.5858-46T>C)
| |
| 1 | g.216070338A>T | CA2747729354 | USH2A | c.5858-46T>A (n.5858-46T>A)
| |
| 1 | g.216070339del | CA2747729353 | USH2A | c.5858-46del (n.5858-46del)
| |
