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 |
|---|---|---|---|---|---|
| 20 | g.44186490C>A | CA510739831 | JPH2 | c.216G>T (p.Leu72=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44186490C= | CA2365659711 | JPH2 | c.216G= (p.Leu72=) | |
| 20 | g.44186490C>G | CA510739832 | JPH2 | c.216G>C (p.Leu72=) | |
| 20 | g.44186490C>T | CA510739833 | JPH2 | c.216G>A (p.Leu72=) | |
| 20 | g.44186491A>C | CA409095277 | JPH2 | c.215T>G (p.Leu72Arg) | |
| 20 | g.44186491A>G | CA409095278 | JPH2 | c.215T>C (p.Leu72Pro) | |
| 20 | g.44186491A>T | CA409095279 | JPH2 | c.215T>A (p.Leu72Gln) | |
| 20 | g.44186492G>A | CA315352213 | JPH2 | c.214C>T (p.Leu72=) | dbSNP |
| 20 | g.44186492G>C | CA409095280 | JPH2 | c.214C>G (p.Leu72Val) | |
| 20 | g.44186492G= | CA2365659712 | JPH2 | c.214C= (p.Leu72=) | |
| 20 | g.44186492G>T | CA409095281 | JPH2 | c.214C>A (p.Leu72Met) | |
| 20 | g.44186493C>A | CA510739837 | JPH2 | c.213G>T (p.Gly71=) | |
| 20 | g.44186493C>G | CA510739838 | JPH2 | c.213G>C (p.Gly71=) | |
| 20 | g.44186493C>T | CA510739839 | JPH2 | c.213G>A (p.Gly71=) | gnomAD v4 |
| 20 | g.44186494C>A | CA409095282 | JPH2 | c.212G>T (p.Gly71Val) | |
| 20 | g.44186494C= | CA2365659713 | JPH2 | c.212G= (p.Gly71=) | |
| 20 | g.44186494C>G | CA409095283 | JPH2 | c.212G>C (p.Gly71Ala) | |
| 20 | g.44186494C>T | CA409095284 | JPH2 | c.212G>A (p.Gly71Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44186495C>A | CA409095285 | JPH2 | c.211G>T (p.Gly71Trp) | ClinVar COSMIC COSMIC |
| 20 | g.44186495C= | CA2365659714 | JPH2 | c.211G= (p.Gly71=) | |
| 20 | g.44186495C>G | CA409095286 | JPH2 | c.211G>C (p.Gly71Arg) | |
| 20 | g.44186495C>T | CA409095287 | JPH2 | c.211G>A (p.Gly71Arg) | dbSNP |
| 20 | g.44186496A= | CA2365659715 | JPH2 | c.210T= (p.His70=) | |
| 20 | g.44186496A>C | CA409095289 | JPH2 | c.210T>G (p.His70Gln) | |
| 20 | g.44186496A>G | CA9868911 | JPH2 | c.210T>C (p.His70=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44186496A>T | CA409095288 | JPH2 | c.210T>A (p.His70Gln) | |
| 20 | g.44186497T>A | CA409095290 | JPH2 | c.209A>T (p.His70Leu) | |
| 20 | g.44186497T>C | CA409095291 | JPH2 | c.209A>G (p.His70Arg) | gnomAD v4 |
| 20 | g.44186497T>G | CA409095292 | JPH2 | c.209A>C (p.His70Pro) | |
| 20 | g.44186498G>A | CA409095293 | JPH2 | c.208C>T (p.His70Tyr) | |
| 20 | g.44186498G>C | CA409095294 | JPH2 | c.208C>G (p.His70Asp) | |
| 20 | g.44186498G>T | CA409095295 | JPH2 | c.208C>A (p.His70Asn) | |
| 20 | g.44186499C>A | CA510739840 | JPH2 | c.207G>T (p.Arg69=) | |
| 20 | g.44186499C>G | CA510739841 | JPH2 | c.207G>C (p.Arg69=) | |
| 20 | g.44186499C>T | CA510739842 | JPH2 | c.207G>A (p.Arg69=) | gnomAD v4 |
| 20 | g.44186500C>A | CA409095296 | JPH2 | c.206G>T (p.Arg69Leu) | |
| 20 | g.44186500C>G | CA409095297 | JPH2 | c.206G>C (p.Arg69Pro) | |
| 20 | g.44186500C>T | CA409095298 | JPH2 | c.206G>A (p.Arg69Gln) | gnomAD v4 |
| 20 | g.44186501G>A | CA409095299 | JPH2 | c.205C>T (p.Arg69Trp) | ClinVar gnomAD v4 |
| 20 | g.44186501G>C | CA409095300 | JPH2 | c.205C>G (p.Arg69Gly) | |
| 20 | g.44186501G>T | CA510739844 | JPH2 | c.205C>A (p.Arg69=) | COSMIC COSMIC |
| 20 | g.44186502T>A | CA409095301 | JPH2 | c.204A>T (p.Lys68Asn) | |
| 20 | g.44186502T>C | CA510739845 | JPH2 | c.204A>G (p.Lys68=) | |
| 20 | g.44186502T>G | CA409095302 | JPH2 | c.204A>C (p.Lys68Asn) | |
| 20 | g.44186503T>A | CA409095304 | JPH2 | c.203A>T (p.Lys68Ile) | |
| 20 | g.44186503T>C | CA409095305 | JPH2 | c.203A>G (p.Lys68Arg) | |
| 20 | g.44186503T>G | CA409095303 | JPH2 | c.203A>C (p.Lys68Thr) | |
| 20 | g.44186504T>A | CA409095307 | JPH2 | c.202A>T (p.Lys68Ter) | |
| 20 | g.44186504T>C | CA409095306 | JPH2 | c.202A>G (p.Lys68Glu) | |
| 20 | g.44186504T>G | CA9868912 | JPH2 | c.202A>C (p.Lys68Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44186504T= | CA2365659716 | JPH2 | c.202A= (p.Lys68=) | |
| 20 | g.44186505G>A | CA510739846 | JPH2 | c.201C>T (p.Gly67=) | |
| 20 | g.44186505G>C | CA510739847 | JPH2 | c.201C>G (p.Gly67=) | |
| 20 | g.44186505G>T | CA510739848 | JPH2 | c.201C>A (p.Gly67=) | |
| 20 | g.44186506C>A | CA409095308 | JPH2 | c.200G>T (p.Gly67Val) | |
| 20 | g.44186506C>G | CA409095309 | JPH2 | c.200G>C (p.Gly67Ala) | |
| 20 | g.44186506C>T | CA409095310 | JPH2 | c.200G>A (p.Gly67Asp) | |
| 20 | g.44186507C>A | CA409095311 | JPH2 | c.199G>T (p.Gly67Cys) | |
| 20 | g.44186507C>G | CA409095312 | JPH2 | c.199G>C (p.Gly67Arg) | |
| 20 | g.44186507C>T | CA409095313 | JPH2 | c.199G>A (p.Gly67Ser) | gnomAD v4 |
| 20 | g.44186508C>A | CA409095314 | JPH2 | c.198G>T (p.Gln66His) | |
| 20 | g.44186508C= | CA2365659717 | JPH2 | c.198G= (p.Gln66=) | |
| 20 | g.44186508C>G | CA9868913 | JPH2 | c.198G>C (p.Gln66His) | dbSNP ExAC gnomAD v2 |
| 20 | g.44186508C>T | CA510739852 | JPH2 | c.198G>A (p.Gln66=) | |
| 20 | g.44186509T>A | CA409095315 | JPH2 | c.197A>T (p.Gln66Leu) | |
| 20 | g.44186509T>C | CA9868914 | JPH2 | c.197A>G (p.Gln66Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44186509T>G | CA409095316 | JPH2 | c.197A>C (p.Gln66Pro) | |
| 20 | g.44186509T= | CA2365659718 | JPH2 | c.197A= (p.Gln66=) | |
| 20 | g.44186510G>A | CA409095317 | JPH2 | c.196C>T (p.Gln66Ter) | |
| 20 | g.44186510G>C | CA409095319 | JPH2 | c.196C>G (p.Gln66Glu) | |
| 20 | g.44186510G>T | CA409095318 | JPH2 | c.196C>A (p.Gln66Lys) | gnomAD v4 |
| 20 | g.44186511G>A | CA510739853 | JPH2 | c.195C>T (p.Ser65=) | |
| 20 | g.44186511G>C | CA409095320 | JPH2 | c.195C>G (p.Ser65Arg) | |
| 20 | g.44186511G>T | CA409095321 | JPH2 | c.195C>A (p.Ser65Arg) | |
| 20 | g.44186512C>A | CA409095322 | JPH2 | c.194G>T (p.Ser65Ile) | |
| 20 | g.44186512C>G | CA409095323 | JPH2 | c.194G>C (p.Ser65Thr) | |
| 20 | g.44186512C>T | CA409095324 | JPH2 | c.194G>A (p.Ser65Asn) | |
| 20 | g.44186513T>A | CA409095325 | JPH2 | c.193A>T (p.Ser65Cys) | |
| 20 | g.44186513T>C | CA409095326 | JPH2 | c.193A>G (p.Ser65Gly) | |
| 20 | g.44186513T>G | CA409095327 | JPH2 | c.193A>C (p.Ser65Arg) | |
| 20 | g.44186514C>A | CA409095328 | JPH2 | c.192G>T (p.Trp64Cys) | |
| 20 | g.44186514C>G | CA409095329 | JPH2 | c.192G>C (p.Trp64Cys) | |
| 20 | g.44186514C>T | CA409095330 | JPH2 | c.192G>A (p.Trp64Ter) | |
| 20 | g.44186515C>A | CA409095331 | JPH2 | c.191G>T (p.Trp64Leu) | |
| 20 | g.44186515C= | CA2365659719 | JPH2 | c.191G= (p.Trp64=) | |
| 20 | g.44186515C>G | CA409095332 | JPH2 | c.191G>C (p.Trp64Ser) | |
| 20 | g.44186515C>T | CA9868915 | JPH2 | c.191G>A (p.Trp64Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44186516A>C | CA409095333 | JPH2 | c.190T>G (p.Trp64Gly) | |
| 20 | g.44186516A>G | CA409095334 | JPH2 | c.190T>C (p.Trp64Arg) | |
| 20 | g.44186516A>T | CA409095335 | JPH2 | c.190T>A (p.Trp64Arg) | |
| 20 | g.44186517G>A | CA510739855 | JPH2 | c.189C>T (p.Tyr63=) | gnomAD v4 |
| 20 | g.44186517G>C | CA409095336 | JPH2 | c.189C>G (p.Tyr63Ter) | |
| 20 | g.44186517G>T | CA409095337 | JPH2 | c.189C>A (p.Tyr63Ter) | |
| 20 | g.44186518T>A | CA409095338 | JPH2 | c.188A>T (p.Tyr63Phe) | |
| 20 | g.44186518T>C | CA9868916 | JPH2 | c.188A>G (p.Tyr63Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44186518T>G | CA409095339 | JPH2 | c.188A>C (p.Tyr63Ser) | |
| 20 | g.44186518T= | CA2365659720 | JPH2 | c.188A= (p.Tyr63=) | |
| 20 | g.44186519A>C | CA409095340 | JPH2 | c.187T>G (p.Tyr63Asp) | |
| 20 | g.44186519A>G | CA409095341 | JPH2 | c.187T>C (p.Tyr63His) | |
| 20 | g.44186519A>T | CA409095342 | JPH2 | c.187T>A (p.Tyr63Asn) | |
| 20 | g.44186520T>A | CA510739858 | JPH2 | c.186A>T (p.Gly62=) | |
| 20 | g.44186520T>C | CA510739857 | JPH2 | c.186A>G (p.Gly62=) | |
| 20 | g.44186520T>G | CA510739856 | JPH2 | c.186A>C (p.Gly62=) | |
| 20 | g.44186521C>A | CA409095343 | JPH2 | c.185G>T (p.Gly62Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44186521C= | CA2365659721 | JPH2 | c.185G= (p.Gly62=) | |
| 20 | g.44186521C>G | CA409095344 | JPH2 | c.185G>C (p.Gly62Ala) | |
| 20 | g.44186521C>T | CA409095345 | JPH2 | c.185G>A (p.Gly62Glu) | |
| 20 | g.44186522C>A | CA409095348 | JPH2 | c.184G>T (p.Gly62Ter) | |
| 20 | g.44186522C>G | CA409095347 | JPH2 | c.184G>C (p.Gly62Arg) | |
| 20 | g.44186522C>T | CA409095346 | JPH2 | c.184G>A (p.Gly62Arg) | COSMIC COSMIC |
| 20 | g.44186523C>A | CA409095349 | JPH2 | c.183G>T (p.Glu61Asp) | |
| 20 | g.44186523C= | CA2365659722 | JPH2 | c.183G= (p.Glu61=) | |
| 20 | g.44186523C>G | CA409095350 | JPH2 | c.183G>C (p.Glu61Asp) | |
| 20 | g.44186523C>T | CA510739862 | JPH2 | c.183G>A (p.Glu61=) | dbSNP gnomAD v4 |
| 20 | g.44186524T>A | CA409095351 | JPH2 | c.182A>T (p.Glu61Val) | |
| 20 | g.44186524T>C | CA409095352 | JPH2 | c.182A>G (p.Glu61Gly) | |
| 20 | g.44186524T>G | CA409095353 | JPH2 | c.182A>C (p.Glu61Ala) | |
| 20 | g.44186525C>A | CA409095354 | JPH2 | c.181G>T (p.Glu61Ter) | |
| 20 | g.44186525C= | CA2365659723 | JPH2 | c.181G= (p.Glu61=) | |
| 20 | g.44186525C>G | CA409095355 | JPH2 | c.181G>C (p.Glu61Gln) | |
| 20 | g.44186525C>T | CA409095356 | JPH2 | c.181G>A (p.Glu61Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44186526A>C | CA409095357 | JPH2 | c.180T>G (p.Phe60Leu) | |
| 20 | g.44186526A>G | CA510739865 | JPH2 | c.180T>C (p.Phe60=) | |
| 20 | g.44186526A>T | CA409095358 | JPH2 | c.180T>A (p.Phe60Leu) | |
| 20 | g.44186527A>C | CA409095359 | JPH2 | c.179T>G (p.Phe60Cys) | |
| 20 | g.44186527A>G | CA409095360 | JPH2 | c.179T>C (p.Phe60Ser) | |
| 20 | g.44186527A>T | CA409095361 | JPH2 | c.179T>A (p.Phe60Tyr) | |
| 20 | g.44186528A>C | CA409095362 | JPH2 | c.178T>G (p.Phe60Val) | |
| 20 | g.44186528A>G | CA409095364 | JPH2 | c.178T>C (p.Phe60Leu) | |
| 20 | g.44186528A>T | CA409095363 | JPH2 | c.178T>A (p.Phe60Ile) | |
| 20 | g.44186529G>A | CA510739866 | JPH2 | c.177C>T (p.Thr59=) | |
| 20 | g.44186529G>C | CA510739867 | JPH2 | c.177C>G (p.Thr59=) | dbSNP |
| 20 | g.44186529G= | CA2365659724 | JPH2 | c.177C= (p.Thr59=) | |
| 20 | g.44186529G>T | CA510739868 | JPH2 | c.177C>A (p.Thr59=) | gnomAD v4 |
| 20 | g.44186530del | CA2652958150 | JPH2 | c.177del (p.Phe60LeufsTer15) | gnomAD v4 |
| 20 | g.44186530G>A | CA409095365 | JPH2 | c.176C>T (p.Thr59Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44186530G>C | CA409095366 | JPH2 | c.176C>G (p.Thr59Ser) | |
| 20 | g.44186530G= | CA2365659725 | JPH2 | c.176C= (p.Thr59=) | |
| 20 | g.44186530G>T | CA409095367 | JPH2 | c.176C>A (p.Thr59Asn) | ClinVar |
| 20 | g.44186531T>A | CA409095368 | JPH2 | c.175A>T (p.Thr59Ser) | |
| 20 | g.44186531T>C | CA409095369 | JPH2 | c.175A>G (p.Thr59Ala) | |
| 20 | g.44186531T>G | CA409095370 | JPH2 | c.175A>C (p.Thr59Pro) | |
| 20 | g.44186532G>A | CA510739869 | JPH2 | c.174C>T (p.Asn58=) | |
| 20 | g.44186532G>C | CA409095371 | JPH2 | c.174C>G (p.Asn58Lys) | |
| 20 | g.44186532G>T | CA409095372 | JPH2 | c.174C>A (p.Asn58Lys) | |
| 20 | g.44186533T>A | CA409095373 | JPH2 | c.173A>T (p.Asn58Ile) | gnomAD v4 |
| 20 | g.44186533T>C | CA409095374 | JPH2 | c.173A>G (p.Asn58Ser) | |
| 20 | g.44186533T>G | CA409095375 | JPH2 | c.173A>C (p.Asn58Thr) | |
| 20 | g.44186534T>A | CA409095376 | JPH2 | c.172A>T (p.Asn58Tyr) | |
| 20 | g.44186534T>C | CA409095377 | JPH2 | c.172A>G (p.Asn58Asp) | |
| 20 | g.44186534T>G | CA409095378 | JPH2 | c.172A>C (p.Asn58His) | |
| 20 | g.44186535T>A | CA510739871 | JPH2 | c.171A>T (p.Gly57=) | |
| 20 | g.44186535T>C | CA510739872 | JPH2 | c.171A>G (p.Gly57=) | dbSNP gnomAD v2 |
| 20 | g.44186535T>G | CA510739873 | JPH2 | c.171A>C (p.Gly57=) | |
| 20 | g.44186535T= | CA2365659726 | JPH2 | c.171A= (p.Gly57=) | |
| 20 | g.44186536C>A | CA409095381 | JPH2 | c.170G>T (p.Gly57Val) | |
| 20 | g.44186536C>G | CA409095380 | JPH2 | c.170G>C (p.Gly57Ala) | |
| 20 | g.44186536C>T | CA409095379 | JPH2 | c.170G>A (p.Gly57Glu) | |
| 20 | g.44186537C>A | CA409095382 | JPH2 | c.169G>T (p.Gly57Ter) | |
| 20 | g.44186537C= | CA2365659727 | JPH2 | c.169G= (p.Gly57=) | |
| 20 | g.44186537C>G | CA409095383 | JPH2 | c.169G>C (p.Gly57Arg) | |
| 20 | g.44186537C>T | CA409095384 | JPH2 | c.169G>A (p.Gly57Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 20 | g.44186538G>A | CA9868917 | JPH2 | c.168C>T (p.Ser56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 20 | g.44186538G>C | CA409095385 | JPH2 | c.168C>G (p.Ser56Arg) | |
| 20 | g.44186538G= | CA2365659728 | JPH2 | c.168C= (p.Ser56=) | |
| 20 | g.44186538G>T | CA409095386 | JPH2 | c.168C>A (p.Ser56Arg) | dbSNP |
| 20 | g.44186539C>A | CA409095387 | JPH2 | c.167G>T (p.Ser56Ile) | |
| 20 | g.44186539C>G | CA409095388 | JPH2 | c.167G>C (p.Ser56Thr) | |
| 20 | g.44186539C>T | CA409095389 | JPH2 | c.167G>A (p.Ser56Asn) | gnomAD v4 |
| 20 | g.44186540T>A | CA409095390 | JPH2 | c.166A>T (p.Ser56Cys) | |
| 20 | g.44186540T>C | CA409095391 | JPH2 | c.166A>G (p.Ser56Gly) | |
| 20 | g.44186540T>G | CA409095392 | JPH2 | c.166A>C (p.Ser56Arg) | |
| 20 | g.44186541G>A | CA510739876 | JPH2 | c.165C>T (p.Pro55=) | gnomAD v4 |
| 20 | g.44186541G>C | CA510739877 | JPH2 | c.165C>G (p.Pro55=) | |
| 20 | g.44186541G>T | CA510739878 | JPH2 | c.165C>A (p.Pro55=) | |
| 20 | g.44186542G>A | CA16616225 | JPH2 | c.164C>T (p.Pro55Leu) | ClinVar dbSNP gnomAD v4 |
| 20 | g.44186542G>C | CA409095393 | JPH2 | c.164C>G (p.Pro55Arg) | |
| 20 | g.44186542G= | CA2365659729 | JPH2 | c.164C= (p.Pro55=) | |
| 20 | g.44186542G>T | CA409095394 | JPH2 | c.164C>A (p.Pro55His) | |
| 20 | g.44186543G>A | CA409095396 | JPH2 | c.163C>T (p.Pro55Ser) | |
| 20 | g.44186543G>C | CA409095397 | JPH2 | c.163C>G (p.Pro55Ala) | |
| 20 | g.44186543G>T | CA409095395 | JPH2 | c.163C>A (p.Pro55Thr) | |
| 20 | g.44186544C>A | CA409095398 | JPH2 | c.162G>T (p.Trp54Cys) | |
| 20 | g.44186544C= | CA2365659730 | JPH2 | c.162G= (p.Trp54=) | |
| 20 | g.44186544C>G | CA409095399 | JPH2 | c.162G>C (p.Trp54Cys) | |
| 20 | g.44186544C>T | CA9868918 | JPH2 | c.162G>A (p.Trp54Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 20 | g.44186545C>A | CA409095400 | JPH2 | c.161G>T (p.Trp54Leu) | |
| 20 | g.44186545C>G | CA409095401 | JPH2 | c.161G>C (p.Trp54Ser) | |
| 20 | g.44186545C>T | CA409095402 | JPH2 | c.161G>A (p.Trp54Ter) | gnomAD v4 |
| 20 | g.44186546A>C | CA409095403 | JPH2 | c.160T>G (p.Trp54Gly) | |
| 20 | g.44186546A>G | CA409095404 | JPH2 | c.160T>C (p.Trp54Arg) | |
| 20 | g.44186546A>T | CA409095405 | JPH2 | c.160T>A (p.Trp54Arg) | |
| 20 | g.44186547G>A | CA9868919 | JPH2 | c.159C>T (p.Thr53=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44186547G>C | CA510739880 | JPH2 | c.159C>G (p.Thr53=) | |
| 20 | g.44186547G= | CA2365659731 | JPH2 | c.159C= (p.Thr53=) | |
| 20 | g.44186547G>T | CA510739881 | JPH2 | c.159C>A (p.Thr53=) | |
| 20 | g.44186548G>A | CA409095406 | JPH2 | c.158C>T (p.Thr53Ile) | |
| 20 | g.44186548G>C | CA409095407 | JPH2 | c.158C>G (p.Thr53Ser) | |
| 20 | g.44186548G>T | CA409095408 | JPH2 | c.158C>A (p.Thr53Asn) | COSMIC COSMIC |
| 20 | g.44186549T>A | CA409095410 | JPH2 | c.157A>T (p.Thr53Ser) | gnomAD v4 |
| 20 | g.44186549T>C | CA9868920 | JPH2 | c.157A>G (p.Thr53Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44186549T>G | CA409095409 | JPH2 | c.157A>C (p.Thr53Pro) | |
| 20 | g.44186549T= | CA2365659732 | JPH2 | c.157A= (p.Thr53=) | |
| 20 | g.44186549_44186550insATA | CA2652958152 | JPH2 | c.156_157insTAT (p.Tyr52_Thr53insTyr) | gnomAD v4 |
| 20 | g.44186550G>A | CA333084 | JPH2 | c.156C>T (p.Tyr52=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44186550G>C | CA409095411 | JPH2 | c.156C>G (p.Tyr52Ter) | |
| 20 | g.44186550G= | CA2365659733 | JPH2 | c.156C= (p.Tyr52=) | |
| 20 | g.44186550G>T | CA409095412 | JPH2 | c.156C>A (p.Tyr52Ter) | gnomAD v3 gnomAD v4 |
| 20 | g.44186550_44186551insACACCTGCCACCTCAAAGCCAAAGTTCCAGGAGCCAGAGTATTCGCCCTGGCTCCAGTATCCCTCAAAGGTGTTTCCGCTGGGCCAGGTA | CA2652958153 | JPH2 | c.155_156insTACCTGGCCCAGCGGAAACACCTTTGAGGGATACTGGAGCCAGGGCGAATACTCTGGCTCCTGGAACTTTGGCTTTGAGGTGGCAGGTGT (p.Tyr52_Thr53insThrTrpProSerGlyAsnThrPheGluGlyTyrTrpSerGlnGlyGluTyrSerGlySerTrpAsnPheGlyPheGluValAlaGlyVal) | gnomAD v4 |
| 20 | g.44186551T>A | CA409095413 | JPH2 | c.155A>T (p.Tyr52Phe) | |
| 20 | g.44186551T>C | CA409095414 | JPH2 | c.155A>G (p.Tyr52Cys) | gnomAD v4 |
| 20 | g.44186551T>G | CA409095415 | JPH2 | c.155A>C (p.Tyr52Ser) | |
| 20 | g.44186552A>C | CA409095416 | JPH2 | c.154T>G (p.Tyr52Asp) | |
| 20 | g.44186552A>G | CA409095417 | JPH2 | c.154T>C (p.Tyr52His) | |
| 20 | g.44186552A>T | CA409095418 | JPH2 | c.154T>A (p.Tyr52Asn) | |
| 20 | g.44186553G>A | CA510739883 | JPH2 | c.153C>T (p.Val51=) | |
| 20 | g.44186553G>C | CA510739884 | JPH2 | c.153C>G (p.Val51=) | |
| 20 | g.44186553G>T | CA510739885 | JPH2 | c.153C>A (p.Val51=) | |
| 20 | g.44186554A>C | CA409095419 | JPH2 | c.152T>G (p.Val51Gly) | |
| 20 | g.44186554A>G | CA409095420 | JPH2 | c.152T>C (p.Val51Ala) | |
| 20 | g.44186554A>T | CA409095421 | JPH2 | c.152T>A (p.Val51Asp) | |
| 20 | g.44186555C>A | CA409095422 | JPH2 | c.151G>T (p.Val51Phe) | |
| 20 | g.44186555C= | CA2365659734 | JPH2 | c.151G= (p.Val51=) | |
| 20 | g.44186555C>G | CA315352249 | JPH2 | c.151G>C (p.Val51Leu) | dbSNP |
| 20 | g.44186555C>T | CA9868921 | JPH2 | c.151G>A (p.Val51Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44186556A= | CA2365659735 | JPH2 | c.150T= (p.Gly50=) | |
| 20 | g.44186556A>C | CA510739889 | JPH2 | c.150T>G (p.Gly50=) | dbSNP |
| 20 | g.44186556A>G | CA510739888 | JPH2 | c.150T>C (p.Gly50=) | |
| 20 | g.44186556A>T | CA510739887 | JPH2 | c.150T>A (p.Gly50=) | |
| 20 | g.44186557C>A | CA409095423 | JPH2 | c.149G>T (p.Gly50Val) | dbSNP |
| 20 | g.44186557C>G | CA409095425 | JPH2 | c.149G>C (p.Gly50Ala) | |
| 20 | g.44186557C>T | CA409095424 | JPH2 | c.149G>A (p.Gly50Asp) | |
| 20 | g.44186558C>A | CA409095426 | JPH2 | c.148G>T (p.Gly50Cys) | |
| 20 | g.44186558C= | CA2365659736 | JPH2 | c.148G= (p.Gly50=) | |
| 20 | g.44186558C>G | CA409095427 | JPH2 | c.148G>C (p.Gly50Arg) | |
| 20 | g.44186558C>T | CA409095428 | JPH2 | c.148G>A (p.Gly50Ser) | dbSNP gnomAD v2 |
| 20 | g.44186559T>A | CA510739892 | JPH2 | c.147A>T (p.Ala49=) | |
| 20 | g.44186559T>C | CA9868922 | JPH2 | c.147A>G (p.Ala49=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44186559T>G | CA510739894 | JPH2 | c.147A>C (p.Ala49=) | |
| 20 | g.44186559T= | CA2365659737 | JPH2 | c.147A= (p.Ala49=) | |
| 20 | g.44186560G>A | CA409095429 | JPH2 | c.146C>T (p.Ala49Val) | |
| 20 | g.44186560G>C | CA409095430 | JPH2 | c.146C>G (p.Ala49Gly) | |
| 20 | g.44186560G>T | CA409095431 | JPH2 | c.146C>A (p.Ala49Glu) | |
| 20 | g.44186561C>A | CA409095432 | JPH2 | c.145G>T (p.Ala49Ser) | |
| 20 | g.44186561C= | CA2365659738 | JPH2 | c.145G= (p.Ala49=) | |
| 20 | g.44186561C>G | CA409095433 | JPH2 | c.145G>C (p.Ala49Pro) | |
| 20 | g.44186561C>T | CA409095434 | JPH2 | c.145G>A (p.Ala49Thr) | dbSNP gnomAD v4 |
| 20 | g.44186562C>A | CA510739897 | JPH2 | c.144G>T (p.Val48=) | |
| 20 | g.44186562C= | CA2365659739 | JPH2 | c.144G= (p.Val48=) | |
| 20 | g.44186562C>G | CA510739900 | JPH2 | c.144G>C (p.Val48=) | |
| 20 | g.44186562C>T | CA510739899 | JPH2 | c.144G>A (p.Val48=) | ClinVar dbSNP gnomAD v4 |
| 20 | g.44186563A>C | CA409095435 | JPH2 | c.143T>G (p.Val48Gly) | |
| 20 | g.44186563A>G | CA409095436 | JPH2 | c.143T>C (p.Val48Ala) | COSMIC COSMIC |
| 20 | g.44186563A>T | CA409095437 | JPH2 | c.143T>A (p.Val48Glu) | |
| 20 | g.44186564C>A | CA409095438 | JPH2 | c.142G>T (p.Val48Leu) | |
| 20 | g.44186564C>G | CA409095440 | JPH2 | c.142G>C (p.Val48Leu) | |
| 20 | g.44186564C>T | CA409095439 | JPH2 | c.142G>A (p.Val48Met) | |
| 20 | g.44186565C>A | CA409095441 | JPH2 | c.141G>T (p.Glu47Asp) | |
| 20 | g.44186565C>G | CA409095442 | JPH2 | c.141G>C (p.Glu47Asp) | |
| 20 | g.44186565C>T | CA510739903 | JPH2 | c.141G>A (p.Glu47=) | |
| 20 | g.44186566T>A | CA409095443 | JPH2 | c.140A>T (p.Glu47Val) | |
| 20 | g.44186566T>C | CA409095444 | JPH2 | c.140A>G (p.Glu47Gly) | |
| 20 | g.44186566T>G | CA409095445 | JPH2 | c.140A>C (p.Glu47Ala) | ClinVar dbSNP |
| 20 | g.44186566T= | CA2365659741 | JPH2 | c.140A= (p.Glu47=) | |
| 20 | g.44186566_44186572delinsTCAAAGC | CA2365659740 | JPH2 | c.134_140delinsGCTTTGA (p.Gly45=) | |
| 20 | g.44186567C>A | CA409095446 | JPH2 | c.139G>T (p.Glu47Ter) | |
| 20 | g.44186567C>G | CA409095447 | JPH2 | c.139G>C (p.Glu47Gln) | |
| 20 | g.44186567C>T | CA409095448 | JPH2 | c.139G>A (p.Glu47Lys) | COSMIC COSMIC |
| 20 | g.44186572_44186577del | CA636173689 | JPH2 | c.134_139del (p.Gly45_Phe46del) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44186568A>C | CA409095449 | JPH2 | c.138T>G (p.Phe46Leu) | |
| 20 | g.44186568A>G | CA510739905 | JPH2 | c.138T>C (p.Phe46=) | |
| 20 | g.44186568A>T | CA409095450 | JPH2 | c.138T>A (p.Phe46Leu) | |
| 20 | g.44186569A= | CA2365659742 | JPH2 | c.137T= (p.Phe46=) | |
| 20 | g.44186569A>C | CA409095452 | JPH2 | c.137T>G (p.Phe46Cys) | |
| 20 | g.44186569A>G | CA9868923 | JPH2 | c.137T>C (p.Phe46Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44186569A>T | CA409095451 | JPH2 | c.137T>A (p.Phe46Tyr) | |
| 20 | g.44186570A>C | CA409095453 | JPH2 | c.136T>G (p.Phe46Val) | |
| 20 | g.44186570A>G | CA409095454 | JPH2 | c.136T>C (p.Phe46Leu) | |
| 20 | g.44186570A>T | CA409095455 | JPH2 | c.136T>A (p.Phe46Ile) | |
| 20 | g.44186571G>A | CA510739910 | JPH2 | c.135C>T (p.Gly45=) | |
| 20 | g.44186571G>C | CA510739908 | JPH2 | c.135C>G (p.Gly45=) | |
| 20 | g.44186571G>T | CA510739906 | JPH2 | c.135C>A (p.Gly45=) | |
| 20 | g.44186572C>A | CA409095456 | JPH2 | c.134G>T (p.Gly45Val) | |
| 20 | g.44186572C>G | CA409095457 | JPH2 | c.134G>C (p.Gly45Ala) | |
| 20 | g.44186572C>T | CA409095458 | JPH2 | c.134G>A (p.Gly45Asp) | |
| 20 | g.44186573C>A | CA409095461 | JPH2 | c.133G>T (p.Gly45Cys) | |
| 20 | g.44186573C>G | CA409095459 | JPH2 | c.133G>C (p.Gly45Arg) | |
| 20 | g.44186573C>T | CA409095460 | JPH2 | c.133G>A (p.Gly45Ser) | |
| 20 | g.44186574A>C | CA409095462 | JPH2 | c.132T>G (p.Phe44Leu) | |
| 20 | g.44186574A>G | CA510739914 | JPH2 | c.132T>C (p.Phe44=) | gnomAD v4 |
| 20 | g.44186574A>T | CA409095463 | JPH2 | c.132T>A (p.Phe44Leu) | |
| 20 | g.44186575A>C | CA409095464 | JPH2 | c.131T>G (p.Phe44Cys) | |
| 20 | g.44186575A>G | CA409095465 | JPH2 | c.131T>C (p.Phe44Ser) | |
| 20 | g.44186575A>T | CA409095466 | JPH2 | c.131T>A (p.Phe44Tyr) | |
| 20 | g.44186576A>C | CA409095467 | JPH2 | c.130T>G (p.Phe44Val) | |
| 20 | g.44186576A>G | CA409095469 | JPH2 | c.130T>C (p.Phe44Leu) | |
| 20 | g.44186576A>T | CA409095468 | JPH2 | c.130T>A (p.Phe44Ile) | |
| 20 | g.44186577G>A | CA510739917 | JPH2 | c.129C>T (p.Asn43=) | |
| 20 | g.44186577G>C | CA409095470 | JPH2 | c.129C>G (p.Asn43Lys) | |
| 20 | g.44186577G>T | CA409095471 | JPH2 | c.129C>A (p.Asn43Lys) | |
| 20 | g.44186578T>A | CA409095472 | JPH2 | c.128A>T (p.Asn43Ile) | |
| 20 | g.44186578T>C | CA335208 | JPH2 | c.128A>G (p.Asn43Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44186578T>G | CA409095473 | JPH2 | c.128A>C (p.Asn43Thr) | |
| 20 | g.44186578T= | CA2365659743 | JPH2 | c.128A= (p.Asn43=) | |
| 20 | g.44186579del | CA2652958154 | JPH2 | c.128del (p.Asn43ThrfsTer?) | gnomAD v4 |
| 20 | g.44186579T>A | CA409095474 | JPH2 | c.127A>T (p.Asn43Tyr) | |
| 20 | g.44186579T>C | CA409095475 | JPH2 | c.127A>G (p.Asn43Asp) | |
| 20 | g.44186579T>G | CA409095476 | JPH2 | c.127A>C (p.Asn43His) | |
| 20 | g.44186580C>A | CA409095477 | JPH2 | c.126G>T (p.Trp42Cys) | |
| 20 | g.44186580C>G | CA409095478 | JPH2 | c.126G>C (p.Trp42Cys) | |
| 20 | g.44186580C>T | CA409095479 | JPH2 | c.126G>A (p.Trp42Ter) | gnomAD v4 |
| 20 | g.44186581C>A | CA409095480 | JPH2 | c.125G>T (p.Trp42Leu) | |
| 20 | g.44186581C>G | CA409095482 | JPH2 | c.125G>C (p.Trp42Ser) | |
| 20 | g.44186581C>T | CA409095481 | JPH2 | c.125G>A (p.Trp42Ter) | |
| 20 | g.44186582del | CA2652958155 | JPH2 | c.124del (p.Trp42GlyfsTer?) | gnomAD v4 |
| 20 | g.44186582A= | CA2365659744 | JPH2 | c.124T= (p.Trp42=) | |
| 20 | g.44186582A>C | CA409095483 | JPH2 | c.124T>G (p.Trp42Gly) | |
| 20 | g.44186582A>G | CA409095484 | JPH2 | c.124T>C (p.Trp42Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44186582A>T | CA409095485 | JPH2 | c.124T>A (p.Trp42Arg) | |
| 20 | g.44186583G>A | CA510739920 | JPH2 | c.123C>T (p.Ser41=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44186583G>C | CA510739921 | JPH2 | c.123C>G (p.Ser41=) | |
| 20 | g.44186583G= | CA2365659745 | JPH2 | c.123C= (p.Ser41=) | |
| 20 | g.44186583G>T | CA510739923 | JPH2 | c.123C>A (p.Ser41=) | |
| 20 | g.44186584G>A | CA409095486 | JPH2 | c.122C>T (p.Ser41Phe) | |
| 20 | g.44186584G>C | CA409095487 | JPH2 | c.122C>G (p.Ser41Cys) | |
| 20 | g.44186584G>T | CA409095488 | JPH2 | c.122C>A (p.Ser41Tyr) | |
| 20 | g.44186585A>C | CA409095491 | JPH2 | c.121T>G (p.Ser41Ala) | |
| 20 | g.44186585A>G | CA409095490 | JPH2 | c.121T>C (p.Ser41Pro) | gnomAD v4 |
| 20 | g.44186585A>T | CA409095489 | JPH2 | c.121T>A (p.Ser41Thr) | |
| 20 | g.44186586G>A | CA510739924 | JPH2 | c.120C>T (p.Gly40=) | |
| 20 | g.44186586G>C | CA510739925 | JPH2 | c.120C>G (p.Gly40=) | |
| 20 | g.44186586G>T | CA510739927 | JPH2 | c.120C>A (p.Gly40=) | gnomAD v4 |
| 20 | g.44186587C>A | CA409095492 | JPH2 | c.119G>T (p.Gly40Val) | gnomAD v4 |
| 20 | g.44186587C>G | CA409095493 | JPH2 | c.119G>C (p.Gly40Ala) | |
| 20 | g.44186587C>T | CA409095494 | JPH2 | c.119G>A (p.Gly40Asp) | |
| 20 | g.44186588C>A | CA409095495 | JPH2 | c.118G>T (p.Gly40Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44186588C= | CA2365659746 | JPH2 | c.118G= (p.Gly40=) | |
| 20 | g.44186588C>G | CA409095496 | JPH2 | c.118G>C (p.Gly40Arg) | |
| 20 | g.44186588C>T | CA409095497 | JPH2 | c.118G>A (p.Gly40Ser) | |
| 20 | g.44186589A= | CA2365659747 | JPH2 | c.117T= (p.Ser39=) | |
| 20 | g.44186589A>C | CA510739930 | JPH2 | c.117T>G (p.Ser39=) | |
| 20 | g.44186589A>G | CA510739931 | JPH2 | c.117T>C (p.Ser39=) | |
| 20 | g.44186589A>T | CA315352263 | JPH2 | c.117T>A (p.Ser39=) | dbSNP gnomAD v4 |
| 20 | g.44186590G>A | CA409095499 | JPH2 | c.116C>T (p.Ser39Phe) | COSMIC COSMIC |
| 20 | g.44186590G>C | CA315352275 | JPH2 | c.116C>G (p.Ser39Cys) | dbSNP |
| 20 | g.44186590G= | CA2365659748 | JPH2 | c.116C= (p.Ser39=) | |
| 20 | g.44186590G>T | CA409095498 | JPH2 | c.116C>A (p.Ser39Tyr) | gnomAD v4 |