UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.46853667_46853671dup | CA2695233377 | RP2 | c.294_298dup (p.Val100AlafsTer15) | |
| 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.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.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.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) | |
| X | g.46853750A>C | CA413039500 | RP2 | c.377A>C (p.Glu126Ala) | |
| X | g.46853750A>G | CA413039502 | RP2 | c.377A>G (p.Glu126Gly) | |
| X | g.46853750A>T | CA413039504 | RP2 | c.377A>T (p.Glu126Val) | |
| X | g.46853751A>C | CA413039507 | RP2 | c.378A>C (p.Glu126Asp) | gnomAD v4 |
| X | g.46853751A>G | CA516370936 | RP2 | c.378A>G (p.Glu126=) | |
| X | g.46853751A>T | CA413039509 | RP2 | c.378A>T (p.Glu126Asp) | |
| X | g.46853752G>A | CA413039512 | RP2 | c.379G>A (p.Val127Ile) | |
| X | g.46853752G>C | CA413039514 | RP2 | c.379G>C (p.Val127Leu) | |
| X | g.46853752G>T | CA413039517 | RP2 | c.379G>T (p.Val127Phe) | |
| X | g.46853753T>A | CA413039522 | RP2 | c.380T>A (p.Val127Asp) | |
| X | g.46853753T>C | CA413039524 | RP2 | c.380T>C (p.Val127Ala) | |
| X | g.46853753T>G | CA413039520 | RP2 | c.380T>G (p.Val127Gly) | |
| X | g.46853754del | CA2740092113 | RP2 | c.381del (p.Leu129CysfsTer27) | ClinVar |
| X | g.46853754C>A | CA516370942 | RP2 | c.381C>A (p.Val127=) | COSMIC |
| X | g.46853754C= | CA2427731426 | RP2 | c.381C= (p.Val127=) | |
| X | g.46853754C>G | CA516370944 | RP2 | c.381C>G (p.Val127=) | |
| X | g.46853754C>T | CA329691492 | RP2 | c.381C>T (p.Val127=) | dbSNP gnomAD v4 |
| X | g.46853755T>A | CA413039531 | RP2 | c.382T>A (p.Phe128Ile) | |
| X | g.46853755T>C | CA413039527 | RP2 | c.382T>C (p.Phe128Leu) | |
| X | g.46853755T>G | CA413039529 | RP2 | c.382T>G (p.Phe128Val) | gnomAD v4 |
| X | g.46853759dup | CA2695233384 | RP2 | c.386dup (p.Leu129PhefsTer10) | |
| X | g.46853758_46853759del | CA2573158920 | RP2 | c.385_386del (p.Leu129ValfsTer9) | ClinVar dbSNP |
| X | g.46853756T>A | CA413039535 | RP2 | c.383T>A (p.Phe128Tyr) | |
| X | g.46853756T>C | CA413039536 | RP2 | c.383T>C (p.Phe128Ser) | |
| X | g.46853756T>G | CA413039538 | RP2 | c.383T>G (p.Phe128Cys) | |
| X | g.46853757T>A | CA413039540 | RP2 | c.384T>A (p.Phe128Leu) | |
| X | g.46853757T>C | CA516370961 | RP2 | c.384T>C (p.Phe128=) | |
| X | g.46853757T>G | CA413039543 | RP2 | c.384T>G (p.Phe128Leu) | |
| X | g.46853758T>A | CA413039545 | RP2 | c.385T>A (p.Leu129Met) | |
| X | g.46853758T>C | CA516370966 | RP2 | c.385T>C (p.Leu129=) | |
| X | g.46853758T>G | CA413039548 | RP2 | c.385T>G (p.Leu129Val) | |
| X | g.46853759T>A | CA413039551 | RP2 | c.386T>A (p.Leu129Ter) | |
| X | g.46853759T>C | CA413039552 | RP2 | c.386T>C (p.Leu129Ser) | |
| X | g.46853759T>G | CA413039554 | RP2 | c.386T>G (p.Leu129Trp) | |
| X | g.46853760G>A | CA516370975 | RP2 | c.387G>A (p.Leu129=) | dbSNP |
| X | g.46853760G>C | CA413039557 | RP2 | c.387G>C (p.Leu129Phe) | |
| X | g.46853760G= | CA2427731427 | RP2 | c.387G= (p.Leu129=) | |
| X | g.46853760G>T | CA413039558 | RP2 | c.387G>T (p.Leu129Phe) | |
| X | g.46853761T>A | CA413039565 | RP2 | c.388T>A (p.Cys130Ser) | |
| X | g.46853761T>C | CA413039561 | RP2 | c.388T>C (p.Cys130Arg) | gnomAD v4 |
| X | g.46853761T>G | CA413039563 | RP2 | c.388T>G (p.Cys130Gly) | |
| X | g.46853762G>A | CA413039568 | RP2 | c.389G>A (p.Cys130Tyr) | |
| X | g.46853762G>C | CA413039570 | RP2 | c.389G>C (p.Cys130Ser) | |
| X | g.46853762G>T | CA413039573 | RP2 | c.389G>T (p.Cys130Phe) | |
| X | g.46853763T>A | CA413039576 | RP2 | c.390T>A (p.Cys130Ter) | ClinVar dbSNP |
| X | g.46853763T>C | CA516370989 | RP2 | c.390T>C (p.Cys130=) | |
| X | g.46853763T>G | CA413039578 | RP2 | c.390T>G (p.Cys130Trp) | |
| X | g.46853763T= | CA2427731428 | RP2 | c.390T= (p.Cys130=) | |
| X | g.46853764dup | CA2695233385 | RP2 | c.391dup (p.Cys131LeufsTer8) | |
| X | g.46853764T>A | CA413039581 | RP2 | c.391T>A (p.Cys131Ser) | |
| X | g.46853764T>C | CA413039582 | RP2 | c.391T>C (p.Cys131Arg) | dbSNP COSMIC |
| X | g.46853764T>G | CA413039585 | RP2 | c.391T>G (p.Cys131Gly) | |
| X | g.46853764T= | CA2427731429 | RP2 | c.391T= (p.Cys131=) | |
| X | g.46853764_46853765delinsTG | CA2427731430 | RP2 | c.391_392delinsTG (p.Cys131=) | |
| X | g.46853765del | CA16621891 | RP2 | c.392del (p.Cys131LeufsTer25) | ClinVar dbSNP |
| X | g.46853765G>A | CA413039590 | RP2 | c.392G>A (p.Cys131Tyr) | ClinVar COSMIC |
| X | g.46853765G>C | CA413039592 | RP2 | c.392G>C (p.Cys131Ser) | |
| X | g.46853765G>T | CA413039594 | RP2 | c.392G>T (p.Cys131Phe) | |
| X | g.46853766T>A | CA413039596 | RP2 | c.393T>A (p.Cys131Ter) | |
| X | g.46853766T>C | CA516371000 | RP2 | c.393T>C (p.Cys131=) | |
| X | g.46853766T>G | CA413039599 | RP2 | c.393T>G (p.Cys131Trp) | |
| X | g.46853767G>A | CA413039602 | RP2 | c.394G>A (p.Ala132Thr) | dbSNP |
| X | g.46853767G>C | CA413039606 | RP2 | c.394G>C (p.Ala132Pro) | |
| X | g.46853767G= | CA2427731431 | RP2 | c.394G= (p.Ala132=) | |
| X | g.46853767G>T | CA413039604 | RP2 | c.394G>T (p.Ala132Ser) | |
| X | g.46853767_46853768del | CA2739273472 | RP2 | c.394_395del (p.Ala132HisfsTer6) | ClinVar |
| X | g.46853768C>A | CA413039609 | RP2 | c.395C>A (p.Ala132Asp) | |
| X | g.46853768C>G | CA413039610 | RP2 | c.395C>G (p.Ala132Gly) | |
| X | g.46853768C>T | CA413039613 | RP2 | c.395C>T (p.Ala132Val) | |
| X | g.46853769_46853793del | CA2695233386 | RP2 | c.396_420del (p.Thr133GlnfsTer15) | |
| X | g.46853769C>A | CA516371011 | RP2 | c.396C>A (p.Ala132=) | |
| X | g.46853769C= | CA2427731432 | RP2 | c.396C= (p.Ala132=) | |
| X | g.46853769C>G | CA329691493 | RP2 | c.396C>G (p.Ala132=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.46853769C>T | CA516371015 | RP2 | c.396C>T (p.Ala132=) |