X | g.46853649T>A | CA413039177 | RP2 | c.276T>A (p.Phe92Leu)
| |
X | g.46853649T>C | CA516370717 | RP2 | c.276T>C (p.Phe92=)
| |
X | g.46853649T>G | CA413039176 | RP2 | c.276T>G (p.Phe92Leu)
| |
X | g.46853649_46853650delinsA | CA2580617534 | RP2 | c.276_277delinsA (p.Phe92LeufsTer5)
| ClinVar |
X | g.46853650C>A | CA413039178 | RP2 | c.277C>A (p.Leu93Met)
| |
X | g.46853650C>G | CA413039179 | RP2 | c.277C>G (p.Leu93Val)
| |
X | g.46853650C>T | CA516370721 | RP2 | c.277C>T (p.Leu93=)
| |
X | g.46853651T>A | CA413039180 | RP2 | c.278T>A (p.Leu93Gln)
| |
X | g.46853651T>C | CA413039181 | RP2 | c.278T>C (p.Leu93Pro)
| ClinVar |
X | g.46853651T>G | CA413039182 | RP2 | c.278T>G (p.Leu93Arg)
| |
X | g.46853652G>A | CA516370722 | RP2 | c.279G>A (p.Leu93=)
| |
X | g.46853652G>C | CA516370723 | RP2 | c.279G>C (p.Leu93=)
| |
X | g.46853652G>T | CA516370724 | RP2 | c.279G>T (p.Leu93=)
| |
X | g.46853653G>A | CA413039183 | RP2 | c.280G>A (p.Gly94Arg)
| ClinVar |
X | g.46853653G>C | CA413039184 | RP2 | c.280G>C (p.Gly94Arg)
| ClinVar dbSNP |
X | g.46853653G>T | CA413039185 | RP2 | c.280G>T (p.Gly94Ter)
| |
X | g.46853654G>A | CA413039186 | RP2 | c.281G>A (p.Gly94Glu)
| |
X | g.46853654G>C | CA413039187 | RP2 | c.281G>C (p.Gly94Ala)
| |
X | g.46853654G>T | CA413039188 | RP2 | c.281G>T (p.Gly94Val)
| |
X | g.46853655A= | CA2427731384 | RP2 | c.282A= (p.Gly94=)
| |
X | g.46853655A>C | CA516370726 | RP2 | c.282A>C (p.Gly94=)
| |
X | g.46853655A>G | CA329691489 | RP2 | c.282A>G (p.Gly94=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.46853655A>T | CA516370728 | RP2 | c.282A>T (p.Gly94=)
| |
X | g.46853656C>A | CA413039191 | RP2 | c.283C>A (p.Pro95Thr)
| |
X | g.46853656C>G | CA413039190 | RP2 | c.283C>G (p.Pro95Ala)
| |
X | g.46853656C>T | CA413039189 | RP2 | c.283C>T (p.Pro95Ser)
| |
X | g.46853657C>A | CA413039192 | RP2 | c.284C>A (p.Pro95His)
| ClinVar |
X | g.46853657C>G | CA413039193 | RP2 | c.284C>G (p.Pro95Arg)
| |
X | g.46853657C>T | CA413039194 | RP2 | c.284C>T (p.Pro95Leu)
| ClinVar dbSNP |
X | g.46853658C>A | CA516370731 | RP2 | c.285C>A (p.Pro95=)
| |
X | g.46853658C= | CA2427731385 | RP2 | c.285C= (p.Pro95=)
| |
X | g.46853658C>G | CA10394201 | RP2 | c.285C>G (p.Pro95=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.46853658C>T | CA516370732 | RP2 | c.285C>T (p.Pro95=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.46853659del | CA2697553065 | RP2 | c.286del (p.Val96Ter)
| ClinVar |
X | g.46853659G>A | CA10394202 | RP2 | c.286G>A (p.Val96Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.46853659G>C | CA413039195 | RP2 | c.286G>C (p.Val96Leu)
| |
X | g.46853659G= | CA2427731386 | RP2 | c.286G= (p.Val96=)
| |
X | g.46853659G>T | CA413039196 | RP2 | c.286G>T (p.Val96Leu)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.46853660T>A | CA413039197 | RP2 | c.287T>A (p.Val96Glu)
| |
X | g.46853660T>C | CA413039198 | RP2 | c.287T>C (p.Val96Ala)
| |
X | g.46853660T>G | CA413039199 | RP2 | c.287T>G (p.Val96Gly)
| |
X | g.46853661G>A | CA516370736 | RP2 | c.288G>A (p.Val96=)
| |
X | g.46853661G>C | CA516370735 | RP2 | c.288G>C (p.Val96=)
| |
X | g.46853661G>T | CA516370734 | RP2 | c.288G>T (p.Val96=)
| |
X | g.46853662A>C | CA413039200 | RP2 | c.289A>C (p.Lys97Gln)
| |
X | g.46853662A>G | CA413039201 | RP2 | c.289A>G (p.Lys97Glu)
| |
X | g.46853662A>T | CA413039202 | RP2 | c.289A>T (p.Lys97Ter)
| |
X | g.46853663A>C | CA413039204 | RP2 | c.290A>C (p.Lys97Thr)
| |
X | g.46853663A>G | CA413039205 | RP2 | c.290A>G (p.Lys97Arg)
| |
X | g.46853663A>T | CA413039203 | RP2 | c.290A>T (p.Lys97Ile)
| |
X | g.46853664A>C | CA413039206 | RP2 | c.291A>C (p.Lys97Asn)
| |
X | g.46853664A>G | CA516370738 | RP2 | c.291A>G (p.Lys97=)
| |
X | g.46853664A>T | CA413039207 | RP2 | c.291A>T (p.Lys97Asn)
| |
X | g.46853665G>A | CA413039208 | RP2 | c.292G>A (p.Gly98Ser)
| |
X | g.46853665G>C | CA413039209 | RP2 | c.292G>C (p.Gly98Arg)
| |
X | g.46853665G= | CA2427731387 | RP2 | c.292G= (p.Gly98=)
| |
X | g.46853665G>T | CA413039210 | RP2 | c.292G>T (p.Gly98Cys)
| dbSNP |
X | g.46853665_46853666insA | CA2695233378 | RP2 | c.292_293insA (p.Gly98GlufsTer26)
| |
X | g.46853666G>A | CA413039211 | RP2 | c.293G>A (p.Gly98Asp)
| |
X | g.46853666G>C | CA413039212 | RP2 | c.293G>C (p.Gly98Ala)
| |
X | g.46853666G>T | CA413039213 | RP2 | c.293G>T (p.Gly98Val)
| |
X | g.46853667_46853671dup | CA2695233377 | RP2 | c.294_298dup (p.Val100AlafsTer15)
| |
X | g.46853667C>A | CA516370740 | RP2 | c.294C>A (p.Gly98=)
| |
X | g.46853667C= | CA2427731388 | RP2 | c.294C= (p.Gly98=)
| |
X | g.46853667C>G | CA516370742 | RP2 | c.294C>G (p.Gly98=)
| |
X | g.46853667C>T | CA516370741 | RP2 | c.294C>T (p.Gly98=)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.46853668A>C | CA413039214 | RP2 | c.295A>C (p.Ser99Arg)
| |
X | g.46853668A>G | CA413039215 | RP2 | c.295A>G (p.Ser99Gly)
| |
X | g.46853668A>T | CA413039216 | RP2 | c.295A>T (p.Ser99Cys)
| |
X | g.46853669G>A | CA413039219 | RP2 | c.296G>A (p.Ser99Asn)
| |
X | g.46853669G>C | CA413039218 | RP2 | c.296G>C (p.Ser99Thr)
| |
X | g.46853669G>T | CA413039217 | RP2 | c.296G>T (p.Ser99Ile)
| |
X | g.46853669dup | CA2740092112 | RP2 | c.296dup (p.Ser99ArgfsTer25)
| ClinVar |
X | g.46853670C>A | CA413039220 | RP2 | c.297C>A (p.Ser99Arg)
| ClinVar |
X | g.46853670C= | CA2427731389 | RP2 | c.297C= (p.Ser99=)
| |
X | g.46853670C>G | CA413039221 | RP2 | c.297C>G (p.Ser99Arg)
| |
X | g.46853670C>T | CA10394203 | RP2 | c.297C>T (p.Ser99=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.46853670_46853671insTA | CA2697553066 | RP2 | c.297_298insTA (p.Val100Ter)
| ClinVar |
X | g.46853671G>A | CA10394204 | RP2 | c.298G>A (p.Val100Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.46853671G>C | CA413039222 | RP2 | c.298G>C (p.Val100Leu)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.46853671G= | CA2427731390 | RP2 | c.298G= (p.Val100=)
| |
X | g.46853671G>T | CA413039223 | RP2 | c.298G>T (p.Val100Leu)
| |
X | g.46853673_46853674del | CA2739273471 | RP2 | c.300_301del (p.Phe102ProfsTer21)
| ClinVar |
X | g.46853672T>A | CA413039224 | RP2 | c.299T>A (p.Val100Glu)
| |
X | g.46853672T>C | CA413039225 | RP2 | c.299T>C (p.Val100Ala)
| |
X | g.46853672T>G | CA413039226 | RP2 | c.299T>G (p.Val100Gly)
| |
X | g.46853672dup | CA1139667497 | RP2 | c.299dup (p.Phe101ValfsTer23)
| ClinVar dbSNP |
X | g.46853673G>A | CA516370745 | RP2 | c.300G>A (p.Val100=)
| dbSNP gnomAD v4 |
X | g.46853673G>C | CA516370746 | RP2 | c.300G>C (p.Val100=)
| |
X | g.46853673G= | CA2427731391 | RP2 | c.300G= (p.Val100=)
| |
X | g.46853673G>T | CA516370747 | RP2 | c.300G>T (p.Val100=)
| |
X | g.46853674T>A | CA413039227 | RP2 | c.301T>A (p.Phe101Ile)
| |
X | g.46853674T>C | CA413039228 | RP2 | c.301T>C (p.Phe101Leu)
| COSMIC |
X | g.46853674T>G | CA413039229 | RP2 | c.301T>G (p.Phe101Val)
| |
X | g.46853678dup | CA2695233380 | RP2 | c.305dup (p.Arg103ProfsTer21)
| |
X | g.46853678del | CA2695233379 | RP2 | c.305del (p.Phe102SerfsTer11)
| |
X | g.46853675T>A | CA413039231 | RP2 | c.302T>A (p.Phe101Tyr)
| |
X | g.46853675T>C | CA413039232 | RP2 | c.302T>C (p.Phe101Ser)
| |
X | g.46853675T>G | CA413039230 | RP2 | c.302T>G (p.Phe101Cys)
| |
X | g.46853676T>A | CA413039234 | RP2 | c.303T>A (p.Phe101Leu)
| |
X | g.46853676T>C | CA516370752 | RP2 | c.303T>C (p.Phe101=)
| |
X | g.46853676T>G | CA413039233 | RP2 | c.303T>G (p.Phe101Leu)
| |
X | g.46853677T>A | CA413039235 | RP2 | c.304T>A (p.Phe102Ile)
| |
X | g.46853677T>C | CA413039236 | RP2 | c.304T>C (p.Phe102Leu)
| |
X | g.46853677T>G | CA413039237 | RP2 | c.304T>G (p.Phe102Val)
| |
X | g.46853678T>A | CA413039238 | RP2 | c.305T>A (p.Phe102Tyr)
| |
X | g.46853678T>C | CA413039239 | RP2 | c.305T>C (p.Phe102Ser)
| |
X | g.46853678T>G | CA413039240 | RP2 | c.305T>G (p.Phe102Cys)
| |
X | g.46853679C>A | CA413039241 | RP2 | c.306C>A (p.Phe102Leu)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.46853679C= | CA2427731392 | RP2 | c.306C= (p.Phe102=)
| |
X | g.46853679C>G | CA413039242 | RP2 | c.306C>G (p.Phe102Leu)
| |
X | g.46853679C>T | CA516370755 | RP2 | c.306C>T (p.Phe102=)
| dbSNP |
X | g.46853680C>A | CA516370756 | RP2 | c.307C>A (p.Arg103=)
| |
X | g.46853680C= | CA2427731393 | RP2 | c.307C= (p.Arg103=)
| |
X | g.46853680C>G | CA413039243 | RP2 | c.307C>G (p.Arg103Gly)
| |
X | g.46853680C>T | CA413039244 | RP2 | c.307C>T (p.Arg103Trp)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
X | g.46853681G>A | CA413039245 | RP2 | c.308G>A (p.Arg103Gln)
| ClinVar dbSNP gnomAD v4 |
X | g.46853681G>C | CA413039246 | RP2 | c.308G>C (p.Arg103Pro)
| |
X | g.46853681G= | CA2427731394 | RP2 | c.308G= (p.Arg103=)
| |
X | g.46853681G>T | CA413039247 | RP2 | c.308G>T (p.Arg103Leu)
| |
X | g.46853681_46853682insCAACCGGCTTGCGCCGACCGACGGCATCGTGCGCCACACGATTAAGGCGGAGCAGGTTTCAGGCTGCCT | CA2544657320 | RP2 | c.308_309insCAACCGGCTTGCGCCGACCGACGGCATCGTGCGCCACACGATTAAGGCGGAGCAGGTTTCAGGCTGCCT (p.Arg103_Asn104insAsnArgLeuAlaProThrAspGlyIleValArgHisThrIleLysAlaGluGlnValSerGlyCysLeu)
| |
X | g.46853682G>A | CA516370761 | RP2 | c.309G>A (p.Arg103=)
| |
X | g.46853682G>C | CA516370763 | RP2 | c.309G>C (p.Arg103=)
| |
X | g.46853682G>T | CA516370765 | RP2 | c.309G>T (p.Arg103=)
| COSMIC |
X | g.46853683A>C | CA413039248 | RP2 | c.310A>C (p.Asn104His)
| |
X | g.46853683A>G | CA413039250 | RP2 | c.310A>G (p.Asn104Asp)
| |
X | g.46853683A>T | CA413039249 | RP2 | c.310A>T (p.Asn104Tyr)
| |
X | g.46853684A>C | CA413039251 | RP2 | c.311A>C (p.Asn104Thr)
| |
X | g.46853684A>G | CA413039252 | RP2 | c.311A>G (p.Asn104Ser)
| |
X | g.46853684A>T | CA413039253 | RP2 | c.311A>T (p.Asn104Ile)
| |
X | g.46853684_46853685insAACGCGGGTGCGCCCGTTGAAGGCGGGGTTTTTGACCGAGCCGCCGCATGGT | CA2545654097 | RP2 | c.311_312insAACGCGGGTGCGCCCGTTGAAGGCGGGGTTTTTGACCGAGCCGCCGCATGGT (p.Asn104LysfsTer37)
| |
X | g.46853685T>A | CA413039254 | RP2 | c.312T>A (p.Asn104Lys)
| |
X | g.46853685T>C | CA516370771 | RP2 | c.312T>C (p.Asn104=)
| dbSNP gnomAD v4 |
X | g.46853685T>G | CA413039255 | RP2 | c.312T>G (p.Asn104Lys)
| |
X | g.46853685T= | CA2427731395 | RP2 | c.312T= (p.Asn104=)
| |
X | g.46853686T>A | CA413039256 | RP2 | c.313T>A (p.Cys105Ser)
| |
X | g.46853686T>C | CA413039257 | RP2 | c.313T>C (p.Cys105Arg)
| |
X | g.46853686T>G | CA413039258 | RP2 | c.313T>G (p.Cys105Gly)
| |
X | g.46853687G>A | CA413039259 | RP2 | c.314G>A (p.Cys105Tyr)
| ClinVar dbSNP |
X | g.46853687G>C | CA413039261 | RP2 | c.314G>C (p.Cys105Ser)
| |
X | g.46853687G= | CA2427731396 | RP2 | c.314G= (p.Cys105=)
| |
X | g.46853687G>T | CA413039262 | RP2 | c.314G>T (p.Cys105Phe)
| |
X | g.46853688C>A | CA413039264 | RP2 | c.315C>A (p.Cys105Ter)
| |
X | g.46853688C>G | CA413039263 | RP2 | c.315C>G (p.Cys105Trp)
| |
X | g.46853688C>T | CA516370776 | RP2 | c.315C>T (p.Cys105=)
| |
X | g.46853689A>C | CA516370777 | RP2 | c.316A>C (p.Arg106=)
| |
X | g.46853689A>G | CA413039265 | RP2 | c.316A>G (p.Arg106Gly)
| |
X | g.46853689A>T | CA413039266 | RP2 | c.316A>T (p.Arg106Ter)
| |
X | g.46853692_46853693del | CA2580617021 | RP2 | c.319_320del (p.Asp107LeufsTer16)
| ClinVar |
X | g.46853690G>A | CA413039267 | RP2 | c.317G>A (p.Arg106Lys)
| |
X | g.46853690G>C | CA413039268 | RP2 | c.317G>C (p.Arg106Thr)
| |
X | g.46853690G>T | CA413039269 | RP2 | c.317G>T (p.Arg106Ile)
| |
X | g.46853691A= | CA2427731397 | RP2 | c.318A= (p.Arg106=)
| |
X | g.46853691A>C | CA413039270 | RP2 | c.318A>C (p.Arg106Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.46853691A>G | CA516370783 | RP2 | c.318A>G (p.Arg106=)
| |
X | g.46853691A>T | CA413039271 | RP2 | c.318A>T (p.Arg106Ser)
| |
X | g.46853691_46853692insATACGCGCTGCTATGTGTTTGATGCGCCGGGAATTCCGCCGGAACATTGGGATGAGCTTGTGCAACACTGGGGCGCGGAAAAAGTAGAAGAGATGCGCAATGATATATATAGTATCTATGCCGATAAT | CA2519244435 | RP2 | c.318_319insATACGCGCTGCTATGTGTTTGATGCGCCGGGAATTCCGCCGGAACATTGGGATGAGCTTGTGCAACACTGGGGCGCGGAAAAAGTAGAAGAGATGCGCAATGATATATATAGTATCTATGCCGATAAT (p.Asp107IlefsTer29)
| |
X | g.46853692G>A | CA413039274 | RP2 | c.319G>A (p.Asp107Asn)
| |
X | g.46853692G>C | CA413039272 | RP2 | c.319G>C (p.Asp107His)
| |
X | g.46853692G>T | CA413039273 | RP2 | c.319G>T (p.Asp107Tyr)
| |
X | g.46853693A= | CA2427731398 | RP2 | c.320A= (p.Asp107=)
| |
X | g.46853693A>C | CA413039275 | RP2 | c.320A>C (p.Asp107Ala)
| |
X | g.46853693A>G | CA413039276 | RP2 | c.320A>G (p.Asp107Gly)
| |
X | g.46853693A>T | CA413039277 | RP2 | c.320A>T (p.Asp107Val)
| |
X | g.46853694T>A | CA413039278 | RP2 | c.321T>A (p.Asp107Glu)
| |
X | g.46853694T>C | CA516370788 | RP2 | c.321T>C (p.Asp107=)
| |
X | g.46853694T>G | CA413039279 | RP2 | c.321T>G (p.Asp107Glu)
| |
X | g.46853695dup | CA916083939 | RP2 | c.322dup (p.Cys108LeufsTer16)
| ClinVar dbSNP |
X | g.46853695T>A | CA413039280 | RP2 | c.322T>A (p.Cys108Ser)
| |
X | g.46853695T>C | CA413039282 | RP2 | c.322T>C (p.Cys108Arg)
| ClinVar dbSNP |
X | g.46853695T>G | CA413039281 | RP2 | c.322T>G (p.Cys108Gly)
| |
X | g.46853695T= | CA2427731399 | RP2 | c.322T= (p.Cys108=)
| |
X | g.46853696G>A | CA413039283 | RP2 | c.323G>A (p.Cys108Tyr)
| |
X | g.46853696G>C | CA10394205 | RP2 | c.323G>C (p.Cys108Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.46853696G= | CA2427731400 | RP2 | c.323G= (p.Cys108=)
| |
X | g.46853696G>T | CA413039284 | RP2 | c.323G>T (p.Cys108Phe)
| gnomAD v4 |
X | g.46853696dup | CA2839151806 | RP2 | c.323dup (p.Cys108TrpfsTer16)
| |
X | g.46853697C>A | CA413039285 | RP2 | c.324C>A (p.Cys108Ter)
| ClinVar dbSNP |
X | g.46853697C= | CA2427731401 | RP2 | c.324C= (p.Cys108=)
| |
X | g.46853697C>G | CA413039286 | RP2 | c.324C>G (p.Cys108Trp)
| |
X | g.46853697C>T | CA516370793 | RP2 | c.324C>T (p.Cys108=)
| |
X | g.46853698A= | CA2427731402 | RP2 | c.325A= (p.Lys109=)
| |
X | g.46853698A>C | CA413039287 | RP2 | c.325A>C (p.Lys109Gln)
| |
X | g.46853698A>G | CA10394206 | RP2 | c.325A>G (p.Lys109Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.46853698A>T | CA413039288 | RP2 | c.325A>T (p.Lys109Ter)
| |
X | g.46853699A>C | CA413039289 | RP2 | c.326A>C (p.Lys109Thr)
| |
X | g.46853699A>G | CA413039290 | RP2 | c.326A>G (p.Lys109Arg)
| gnomAD v4 |
X | g.46853699A>T | CA413039291 | RP2 | c.326A>T (p.Lys109Met)
| |
X | g.46853700G>A | CA516370797 | RP2 | c.327G>A (p.Lys109=)
| dbSNP gnomAD v4 |
X | g.46853700G>C | CA413039292 | RP2 | c.327G>C (p.Lys109Asn)
| |
X | g.46853700G= | CA2427731403 | RP2 | c.327G= (p.Lys109=)
| |
X | g.46853700G>T | CA413039293 | RP2 | c.327G>T (p.Lys109Asn)
| |
X | g.46853701T>A | CA413039295 | RP2 | c.328T>A (p.Cys110Ser)
| |
X | g.46853701T>C | CA413039296 | RP2 | c.328T>C (p.Cys110Arg)
| ClinVar dbSNP |
X | g.46853701T>G | CA413039294 | RP2 | c.328T>G (p.Cys110Gly)
| |
X | g.46853701T= | CA2427731404 | RP2 | c.328T= (p.Cys110=)
| |
X | g.46853702G>A | CA413039298 | RP2 | c.329G>A (p.Cys110Tyr)
| |
X | g.46853702G>C | CA413039297 | RP2 | c.329G>C (p.Cys110Ser)
| |
X | g.46853702G>T | CA413039299 | RP2 | c.329G>T (p.Cys110Phe)
| |
X | g.46853703C>A | CA413039300 | RP2 | c.330C>A (p.Cys110Ter)
| |
X | g.46853703C>G | CA413039301 | RP2 | c.330C>G (p.Cys110Trp)
| |
X | g.46853703C>T | CA516370802 | RP2 | c.330C>T (p.Cys110=)
| COSMIC |
X | g.46853705_46853717del | CA2695233381 | RP2 | c.332_344del (p.Thr111AsnfsTer?)
| |
X | g.46853704A>C | CA413039302 | RP2 | c.331A>C (p.Thr111Pro)
| |
X | g.46853704A>G | CA413039304 | RP2 | c.331A>G (p.Thr111Ala)
| |
X | g.46853704A>T | CA413039303 | RP2 | c.331A>T (p.Thr111Ser)
| |
X | g.46853705C>A | CA413039305 | RP2 | c.332C>A (p.Thr111Lys)
| |
X | g.46853705C= | CA2427731405 | RP2 | c.332C= (p.Thr111=)
| |
X | g.46853705C>G | CA413039306 | RP2 | c.332C>G (p.Thr111Arg)
| |
X | g.46853705C>T | CA413039307 | RP2 | c.332C>T (p.Thr111Ile)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.46853706A= | CA2427731406 | RP2 | c.333A= (p.Thr111=)
| |
X | g.46853706A>C | CA516370805 | RP2 | c.333A>C (p.Thr111=)
| |
X | g.46853706A>G | CA516370806 | RP2 | c.333A>G (p.Thr111=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.46853706A>T | CA516370807 | RP2 | c.333A>T (p.Thr111=)
| |
X | g.46853706_46853707del | CA2499226729 | RP2 | c.333_334del (p.Leu112SerfsTer11)
| ClinVar dbSNP |
X | g.46853707T>A | CA413039308 | RP2 | c.334T>A (p.Leu112Ile)
| |
X | g.46853707T>C | CA516370808 | RP2 | c.334T>C (p.Leu112=)
| |
X | g.46853707T>G | CA413039309 | RP2 | c.334T>G (p.Leu112Val)
| |
X | g.46853708T>A | CA413039310 | RP2 | c.335T>A (p.Leu112Ter)
| |
X | g.46853708T>C | CA413039311 | RP2 | c.335T>C (p.Leu112Ser)
| |
X | g.46853708T>G | CA413039312 | RP2 | c.335T>G (p.Leu112Ter)
| |
X | g.46853709A= | CA2427731407 | RP2 | c.336A= (p.Leu112=)
| |
X | g.46853709A>C | CA413039313 | RP2 | c.336A>C (p.Leu112Phe)
| |
X | g.46853709A>G | CA516370814 | RP2 | c.336A>G (p.Leu112=)
| |
X | g.46853709A>T | CA413039314 | RP2 | c.336A>T (p.Leu112Phe)
| dbSNP |
X | g.46853710G>A | CA413039318 | RP2 | c.337G>A (p.Ala113Thr)
| |
X | g.46853710G>C | CA413039316 | RP2 | c.337G>C (p.Ala113Pro)
| |
X | g.46853710G>T | CA413039315 | RP2 | c.337G>T (p.Ala113Ser)
| COSMIC |
X | g.46853711C>A | CA413039319 | RP2 | c.338C>A (p.Ala113Asp)
| ClinVar dbSNP |
X | g.46853711C= | CA2427731408 | RP2 | c.338C= (p.Ala113=)
| |
X | g.46853711C>G | CA413039320 | RP2 | c.338C>G (p.Ala113Gly)
| |
X | g.46853711C>T | CA413039321 | RP2 | c.338C>T (p.Ala113Val)
| |
X | g.46853712C>A | CA516370821 | RP2 | c.339C>A (p.Ala113=)
| |
X | g.46853712C= | CA2427731409 | RP2 | c.339C= (p.Ala113=)
| |
X | g.46853712C>G | CA516370823 | RP2 | c.339C>G (p.Ala113=)
| dbSNP |
X | g.46853712C>T | CA516370824 | RP2 | c.339C>T (p.Ala113=)
| |
X | g.46853713del | CA2820750857 | RP2 | c.340del (p.Cys114AlafsTer?)
| |
X | g.46853713T>A | CA413039322 | RP2 | c.340T>A (p.Cys114Ser)
| |
X | g.46853713T>C | CA413039323 | RP2 | c.340T>C (p.Cys114Arg)
| |
X | g.46853713T>G | CA413039324 | RP2 | c.340T>G (p.Cys114Gly)
| |
X | g.46853714G>A | CA413039325 | RP2 | c.341G>A (p.Cys114Tyr)
| |
X | g.46853714G>C | CA413039326 | RP2 | c.341G>C (p.Cys114Ser)
| |
X | g.46853714G>T | CA413039327 | RP2 | c.341G>T (p.Cys114Phe)
| |
X | g.46853715C>A | CA413039328 | RP2 | c.342C>A (p.Cys114Ter)
| |
X | g.46853715C>G | CA413039329 | RP2 | c.342C>G (p.Cys114Trp)
| |
X | g.46853715C>T | CA516370830 | RP2 | c.342C>T (p.Cys114=)
| COSMIC |
X | g.46853716dup | CA2840200920 | RP2 | c.343dup (p.Gln115ProfsTer9)
| |
X | g.46853716C>A | CA413039332 | RP2 | c.343C>A (p.Gln115Lys)
| |
X | g.46853716C>G | CA413039333 | RP2 | c.343C>G (p.Gln115Glu)
| |
X | g.46853716C>T | CA413039331 | RP2 | c.343C>T (p.Gln115Ter)
| |
X | g.46853717A>C | CA413039334 | RP2 | c.344A>C (p.Gln115Pro)
| |
X | g.46853717A>G | CA413039335 | RP2 | c.344A>G (p.Gln115Arg)
| gnomAD v4 |
X | g.46853717A>T | CA413039336 | RP2 | c.344A>T (p.Gln115Leu)
| |
X | g.46853718A>C | CA413039337 | RP2 | c.345A>C (p.Gln115His)
| |
X | g.46853718A>G | CA516370837 | RP2 | c.345A>G (p.Gln115=)
| |
X | g.46853718A>T | CA413039338 | RP2 | c.345A>T (p.Gln115His)
| |
X | g.46853719C>A | CA413039339 | RP2 | c.346C>A (p.Gln116Lys)
| |
X | g.46853719C>G | CA413039340 | RP2 | c.346C>G (p.Gln116Glu)
| |
X | g.46853719C>T | CA413039341 | RP2 | c.346C>T (p.Gln116Ter)
| |
X | g.46853720A= | CA2427731410 | RP2 | c.347A= (p.Gln116=)
| |
X | g.46853720A>C | CA413039342 | RP2 | c.347A>C (p.Gln116Pro)
| |
X | g.46853720A>G | CA413039343 | RP2 | c.347A>G (p.Gln116Arg)
| ClinVar dbSNP |
X | g.46853720A>T | CA413039344 | RP2 | c.347A>T (p.Gln116Leu)
| |
X | g.46853721A= | CA2427731411 | RP2 | c.348A= (p.Gln116=)
| |
X | g.46853721A>C | CA413039346 | RP2 | c.348A>C (p.Gln116His)
| |
X | g.46853721A>G | CA10394207 | RP2 | c.348A>G (p.Gln116=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.46853721A>T | CA413039345 | RP2 | c.348A>T (p.Gln116His)
| |
X | g.46853722T>A | CA413039347 | RP2 | c.349T>A (p.Phe117Ile)
| |
X | g.46853722T>C | CA413039348 | RP2 | c.349T>C (p.Phe117Leu)
| |
X | g.46853722T>G | CA413039349 | RP2 | c.349T>G (p.Phe117Val)
| |
X | g.46853724dup | CA2695233383 | RP2 | c.351dup (p.Arg118SerfsTer6)
| |
X | g.46853723_46853724del | CA2695233382 | RP2 | c.350_351del (p.Phe117SerfsTer6)
| |
X | g.46853723T>A | CA413039350 | RP2 | c.350T>A (p.Phe117Tyr)
| dbSNP |
X | g.46853723T>C | CA413039351 | RP2 | c.350T>C (p.Phe117Ser)
| |
X | g.46853723T>G | CA413039353 | RP2 | c.350T>G (p.Phe117Cys)
| |
X | g.46853723T= | CA2427731412 | RP2 | c.350T= (p.Phe117=)
| |
X | g.46853724T>A | CA413039356 | RP2 | c.351T>A (p.Phe117Leu)
| dbSNP |
X | g.46853724T>C | CA10394208 | RP2 | c.351T>C (p.Phe117=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.46853724T>G | CA413039358 | RP2 | c.351T>G (p.Phe117Leu)
| |
X | g.46853724T= | CA2427731414 | RP2 | c.351T= (p.Phe117=)
| |
X | g.46853724_46853725delinsTC | CA2427731413 | RP2 | c.351_352delinsTC (p.Phe117=)
| |
X | g.46853725del | CA273364 | RP2 | c.352del (p.Arg118ValfsTer?)
| ClinVar dbSNP |
X | g.46853725C>A | CA413039363 | RP2 | c.352C>A (p.Arg118Ser)
| |
X | g.46853725C= | CA2427731415 | RP2 | c.352C= (p.Arg118=)
| |
X | g.46853725C>G | CA413039365 | RP2 | c.352C>G (p.Arg118Gly)
| ClinVar dbSNP |
X | g.46853725C>T | CA413039367 | RP2 | c.352C>T (p.Arg118Cys)
| ClinVar dbSNP COSMIC |
X | g.46853725_46853726delinsCG | CA2427731416 | RP2 | c.352_353delinsCG (p.Arg118=)
| |
X | g.46853726G>A | CA255301 | RP2 | c.353G>A (p.Arg118His)
| ClinVar dbSNP gnomAD v4 |
X | g.46853726G>C | CA413039373 | RP2 | c.353G>C (p.Arg118Pro)
| ClinVar dbSNP |
X | g.46853726G= | CA2427731417 | RP2 | c.353G= (p.Arg118=)
| |
X | g.46853726G>T | CA255304 | RP2 | c.353G>T (p.Arg118Leu)
| ClinVar dbSNP |
X | g.46853726delinsAC | CA920408697 | RP2 | c.353delinsAC (p.Arg118HisfsTer6)
| dbSNP |
X | g.46853727T>A | CA516370865 | RP2 | c.354T>A (p.Arg118=)
| |
X | g.46853727T>C | CA329691490 | RP2 | c.354T>C (p.Arg118=)
| ClinVar dbSNP |
X | g.46853727T>G | CA516370867 | RP2 | c.354T>G (p.Arg118=)
| |
X | g.46853727T= | CA2427731418 | RP2 | c.354T= (p.Arg118=)
| |
X | g.46853728G>A | CA413039377 | RP2 | c.355G>A (p.Val119Met)
| |
X | g.46853728G>C | CA413039382 | RP2 | c.355G>C (p.Val119Leu)
| |
X | g.46853728G>T | CA413039380 | RP2 | c.355G>T (p.Val119Leu)
| |
X | g.46853729T>A | CA413039384 | RP2 | c.356T>A (p.Val119Glu)
| |
X | g.46853729T>C | CA413039386 | RP2 | c.356T>C (p.Val119Ala)
| |
X | g.46853729T>G | CA413039389 | RP2 | c.356T>G (p.Val119Gly)
| |
X | g.46853730G>A | CA516370875 | RP2 | c.357G>A (p.Val119=)
| |
X | g.46853730G>C | CA516370876 | RP2 | c.357G>C (p.Val119=)
| |
X | g.46853730G>T | CA516370878 | RP2 | c.357G>T (p.Val119=)
| |
X | g.46853731C>A | CA516370879 | RP2 | c.358C>A (p.Arg120=)
| |
X | g.46853731C= | CA2427731419 | RP2 | c.358C= (p.Arg120=)
| |
X | g.46853731C>G | CA413039392 | RP2 | c.358C>G (p.Arg120Gly)
| |
X | g.46853731C>T | CA255305 | RP2 | c.358C>T (p.Arg120Ter)
| ClinVar dbSNP |
X | g.46853732G>A | CA413039396 | RP2 | c.359G>A (p.Arg120Gln)
| |
X | g.46853732G>C | CA413039398 | RP2 | c.359G>C (p.Arg120Pro)
| |
X | g.46853732G>T | CA413039400 | RP2 | c.359G>T (p.Arg120Leu)
| |
X | g.46853733A>C | CA516370882 | RP2 | c.360A>C (p.Arg120=)
| |
X | g.46853733A>G | CA516370883 | RP2 | c.360A>G (p.Arg120=)
| |
X | g.46853733A>T | CA516370885 | RP2 | c.360A>T (p.Arg120=)
| |
X | g.46853734G>A | CA413039404 | RP2 | c.361G>A (p.Asp121Asn)
| |
X | g.46853734G>C | CA413039406 | RP2 | c.361G>C (p.Asp121His)
| |
X | g.46853734G= | CA2427731420 | RP2 | c.361G= (p.Asp121=)
| |
X | g.46853734G>T | CA329691491 | RP2 | c.361G>T (p.Asp121Tyr)
| dbSNP |
X | g.46853735A>C | CA413039414 | RP2 | c.362A>C (p.Asp121Ala)
| |
X | g.46853735A>G | CA413039410 | RP2 | c.362A>G (p.Asp121Gly)
| |
X | g.46853735A>T | CA413039412 | RP2 | c.362A>T (p.Asp121Val)
| |
X | g.46853735_46853736delinsAT | CA2427731421 | RP2 | c.362_363delinsAT (p.Asp121=)
| |
X | g.46853736T>A | CA413039417 | RP2 | c.363T>A (p.Asp121Glu)
| |
X | g.46853736T>C | CA10394209 | RP2 | c.363T>C (p.Asp121=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.46853736T>G | CA413039421 | RP2 | c.363T>G (p.Asp121Glu)
| |
X | g.46853736T= | CA2427731422 | RP2 | c.363T= (p.Asp121=)
| |
X | g.46853737del | CA915951029 | RP2 | c.364del (p.Cys122ValfsTer?)
| ClinVar dbSNP |
X | g.46853737T>A | CA413039423 | RP2 | c.364T>A (p.Cys122Ser)
| |
X | g.46853737T>C | CA413039426 | RP2 | c.364T>C (p.Cys122Arg)
| |
X | g.46853737T>G | CA413039428 | RP2 | c.364T>G (p.Cys122Gly)
| |
X | g.46853738G>A | CA413039431 | RP2 | c.365G>A (p.Cys122Tyr)
| ClinVar dbSNP |
X | g.46853738G>C | CA413039433 | RP2 | c.365G>C (p.Cys122Ser)
| |
X | g.46853738G= | CA2427731423 | RP2 | c.365G= (p.Cys122=)
| |
X | g.46853738G>T | CA413039436 | RP2 | c.365G>T (p.Cys122Phe)
| |
X | g.46853739T>A | CA413039438 | RP2 | c.366T>A (p.Cys122Ter)
| |
X | g.46853739T>C | CA516370902 | RP2 | c.366T>C (p.Cys122=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.46853739T>G | CA413039440 | RP2 | c.366T>G (p.Cys122Trp)
| |
X | g.46853739T= | CA2427731424 | RP2 | c.366T= (p.Cys122=)
| |
X | g.46853740A>C | CA516370905 | RP2 | c.367A>C (p.Arg123=)
| |
X | g.46853740A>G | CA413039446 | RP2 | c.367A>G (p.Arg123Gly)
| gnomAD v4 |
X | g.46853740A>T | CA413039444 | RP2 | c.367A>T (p.Arg123Ter)
| |
X | g.46853741G>A | CA413039448 | RP2 | c.368G>A (p.Arg123Lys)
| |
X | g.46853741G>C | CA413039451 | RP2 | c.368G>C (p.Arg123Thr)
| |
X | g.46853741G>T | CA413039453 | RP2 | c.368G>T (p.Arg123Ile)
| |
X | g.46853742A>C | CA413039456 | RP2 | c.369A>C (p.Arg123Ser)
| |
X | g.46853742A>G | CA516370910 | RP2 | c.369A>G (p.Arg123=)
| |
X | g.46853742A>T | CA413039458 | RP2 | c.369A>T (p.Arg123Ser)
| |
X | g.46853743A>C | CA413039462 | RP2 | c.370A>C (p.Lys124Gln)
| |
X | g.46853743A>G | CA413039463 | RP2 | c.370A>G (p.Lys124Glu)
| |
X | g.46853743A>T | CA413039466 | RP2 | c.370A>T (p.Lys124Ter)
| |
X | g.46853744A>C | CA413039468 | RP2 | c.371A>C (p.Lys124Thr)
| gnomAD v4 |
X | g.46853744A>G | CA413039471 | RP2 | c.371A>G (p.Lys124Arg)
| |
X | g.46853744A>T | CA413039473 | RP2 | c.371A>T (p.Lys124Met)
| |
X | g.46853745G>A | CA516370923 | RP2 | c.372G>A (p.Lys124=)
| dbSNP |
X | g.46853745G>C | CA413039475 | RP2 | c.372G>C (p.Lys124Asn)
| |
X | g.46853745G= | CA2427731425 | RP2 | c.372G= (p.Lys124=)
| |
X | g.46853745G>T | CA413039477 | RP2 | c.372G>T (p.Lys124Asn)
| |
X | g.46853746C>A | CA413039483 | RP2 | c.373C>A (p.Leu125Met)
| |
X | g.46853746C>G | CA413039480 | RP2 | c.373C>G (p.Leu125Val)
| |
X | g.46853746C>T | CA516370924 | RP2 | c.373C>T (p.Leu125=)
| |
X | g.46853747T>A | CA413039486 | RP2 | c.374T>A (p.Leu125Gln)
| |
X | g.46853747T>C | CA413039488 | RP2 | c.374T>C (p.Leu125Pro)
| |
X | g.46853747T>G | CA413039490 | RP2 | c.374T>G (p.Leu125Arg)
| |
X | g.46853748G>A | CA516370926 | RP2 | c.375G>A (p.Leu125=)
| gnomAD v4 |
X | g.46853748G>C | CA516370928 | RP2 | c.375G>C (p.Leu125=)
| |
X | g.46853748G>T | CA516370930 | RP2 | c.375G>T (p.Leu125=)
| |
X | g.46853749dup | CA2840200922 | RP2 | c.376dup (p.Glu126GlyfsTer13)
| |
X | g.46853749G>A | CA413039493 | RP2 | c.376G>A (p.Glu126Lys)
| |
X | g.46853749G>C | CA413039495 | RP2 | c.376G>C (p.Glu126Gln)
| |
X | g.46853749G>T | CA413039497 | RP2 | c.376G>T (p.Glu126Ter)
| |