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 |
|---|---|---|---|---|---|
| 7 | g.155808884_155815348del | CA2580077757 | ClinVar | ||
| 7 | g.155811866A>C | CA370151163 | SHH | c.257T>G (p.Phe86Cys) | |
| 7 | g.155811866A>G | CA370151166 | SHH | c.257T>C (p.Phe86Ser) | |
| 7 | g.155811866A>T | CA370151167 | SHH | c.257T>A (p.Phe86Tyr) | |
| 7 | g.155811867A>C | CA370151172 | SHH | c.256T>G (p.Phe86Val) | |
| 7 | g.155811867A>G | CA370151176 | SHH | c.256T>C (p.Phe86Leu) | |
| 7 | g.155811867A>T | CA370151173 | SHH | c.256T>A (p.Phe86Ile) | |
| 7 | g.155811868T>A | CA458893301 | SHH | c.255A>T (p.Ile85=) | |
| 7 | g.155811868T>C | CA370151178 | SHH | c.255A>G (p.Ile85Met) | COSMIC |
| 7 | g.155811868T>G | CA458893302 | SHH | c.255A>C (p.Ile85=) | |
| 7 | g.155811869A>C | CA370151181 | SHH | c.254T>G (p.Ile85Arg) | |
| 7 | g.155811869A>G | CA370151183 | SHH | c.254T>C (p.Ile85Thr) | ClinVar gnomAD v4 |
| 7 | g.155811869A>T | CA370151186 | SHH | c.254T>A (p.Ile85Lys) | |
| 7 | g.155811870T>A | CA370151189 | SHH | c.253A>T (p.Ile85Leu) | |
| 7 | g.155811870T>C | CA370151194 | SHH | c.253A>G (p.Ile85Val) | gnomAD v4 |
| 7 | g.155811870T>G | CA370151191 | SHH | c.253A>C (p.Ile85Leu) | |
| 7 | g.155811871G>A | CA458893305 | SHH | c.252C>T (p.Ile84=) | |
| 7 | g.155811871G>C | CA370151197 | SHH | c.252C>G (p.Ile84Met) | |
| 7 | g.155811871G>T | CA458893306 | SHH | c.252C>A (p.Ile84=) | gnomAD v4 |
| 7 | g.155811872A>C | CA370151202 | SHH | c.251T>G (p.Ile84Ser) | |
| 7 | g.155811872A>G | CA370151205 | SHH | c.251T>C (p.Ile84Thr) | |
| 7 | g.155811872A>T | CA370151206 | SHH | c.251T>A (p.Ile84Asn) | |
| 7 | g.155811873T>A | CA370151209 | SHH | c.250A>T (p.Ile84Phe) | |
| 7 | g.155811873T>C | CA4587076 | SHH | c.250A>G (p.Ile84Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.155811873T>G | CA370151214 | SHH | c.250A>C (p.Ile84Leu) | |
| 7 | g.155811873T= | CA1754783534 | SHH | c.250A= (p.Ile84=) | |
| 7 | g.155811874G>A | CA458893312 | SHH | c.249C>T (p.Asp83=) | gnomAD v4 |
| 7 | g.155811874G>C | CA370151217 | SHH | c.249C>G (p.Asp83Glu) | |
| 7 | g.155811874G>T | CA370151219 | SHH | c.249C>A (p.Asp83Glu) | |
| 7 | g.155811875T>A | CA370151222 | SHH | c.248A>T (p.Asp83Val) | |
| 7 | g.155811875T>C | CA370151233 | SHH | c.248A>G (p.Asp83Gly) | |
| 7 | g.155811875T>G | CA370151236 | SHH | c.248A>C (p.Asp83Ala) | |
| 7 | g.155811876C>A | CA370151240 | SHH | c.247G>T (p.Asp83Tyr) | gnomAD v4 |
| 7 | g.155811876C= | CA1754783573 | SHH | c.247G= (p.Asp83=) | |
| 7 | g.155811876C>G | CA370151246 | SHH | c.247G>C (p.Asp83His) | dbSNP |
| 7 | g.155811876C>T | CA370151243 | SHH | c.247G>A (p.Asp83Asn) | COSMIC |
| 7 | g.155811877G>A | CA458893314 | SHH | c.246C>T (p.Pro82=) | dbSNP gnomAD v4 |
| 7 | g.155811877G>C | CA458893315 | SHH | c.246C>G (p.Pro82=) | |
| 7 | g.155811877G= | CA1754783582 | SHH | c.246C= (p.Pro82=) | |
| 7 | g.155811877G>T | CA458893316 | SHH | c.246C>A (p.Pro82=) | |
| 7 | g.155811878G>A | CA370151248 | SHH | c.245C>T (p.Pro82Leu) | |
| 7 | g.155811878G>C | CA370151250 | SHH | c.245C>G (p.Pro82Arg) | |
| 7 | g.155811878G>T | CA370151252 | SHH | c.245C>A (p.Pro82His) | |
| 7 | g.155811879G>A | CA4587077 | SHH | c.244C>T (p.Pro82Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.155811879G>C | CA370151263 | SHH | c.244C>G (p.Pro82Ala) | |
| 7 | g.155811879G= | CA1754783595 | SHH | c.244C= (p.Pro82=) | |
| 7 | g.155811879G>T | CA370151265 | SHH | c.244C>A (p.Pro82Thr) | |
| 7 | g.155811880G>A | CA458893320 | SHH | c.243C>T (p.Asn81=) | dbSNP |
| 7 | g.155811880G>C | CA370151269 | SHH | c.243C>G (p.Asn81Lys) | ClinVar |
| 7 | g.155811880G= | CA1754783605 | SHH | c.243C= (p.Asn81=) | |
| 7 | g.155811880G>T | CA370151271 | SHH | c.243C>A (p.Asn81Lys) | |
| 7 | g.155811881T>A | CA370151276 | SHH | c.242A>T (p.Asn81Ile) | |
| 7 | g.155811881T>C | CA370151278 | SHH | c.242A>G (p.Asn81Ser) | |
| 7 | g.155811881T>G | CA370151280 | SHH | c.242A>C (p.Asn81Thr) | |
| 7 | g.155811882T>A | CA370151283 | SHH | c.241A>T (p.Asn81Tyr) | |
| 7 | g.155811882T>C | CA169426208 | SHH | c.241A>G (p.Asn81Asp) | dbSNP |
| 7 | g.155811882T>G | CA370151287 | SHH | c.241A>C (p.Asn81His) | |
| 7 | g.155811882T= | CA1754783613 | SHH | c.241A= (p.Asn81=) | |
| 7 | g.155811883G>A | CA458893325 | SHH | c.240C>T (p.Tyr80=) | |
| 7 | g.155811883G>C | CA370151291 | SHH | c.240C>G (p.Tyr80Ter) | |
| 7 | g.155811883G>T | CA370151294 | SHH | c.240C>A (p.Tyr80Ter) | |
| 7 | g.155811884T>A | CA370151297 | SHH | c.239A>T (p.Tyr80Phe) | |
| 7 | g.155811884T>C | CA370151300 | SHH | c.239A>G (p.Tyr80Cys) | |
| 7 | g.155811884T>G | CA370151303 | SHH | c.239A>C (p.Tyr80Ser) | |
| 7 | g.155811885A>C | CA370151305 | SHH | c.238T>G (p.Tyr80Asp) | |
| 7 | g.155811885A>G | CA370151306 | SHH | c.238T>C (p.Tyr80His) | gnomAD v4 |
| 7 | g.155811885A>T | CA370151307 | SHH | c.238T>A (p.Tyr80Asn) | |
| 7 | g.155811886A>C | CA370151308 | SHH | c.237T>G (p.Asn79Lys) | |
| 7 | g.155811886A>G | CA458893332 | SHH | c.237T>C (p.Asn79=) | |
| 7 | g.155811886A>T | CA370151309 | SHH | c.237T>A (p.Asn79Lys) | |
| 7 | g.155811887T>A | CA370151311 | SHH | c.236A>T (p.Asn79Ile) | |
| 7 | g.155811887T>C | CA4587078 | SHH | c.236A>G (p.Asn79Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.155811887T>G | CA370151313 | SHH | c.236A>C (p.Asn79Thr) | |
| 7 | g.155811887T= | CA1754783621 | SHH | c.236A= (p.Asn79=) | |
| 7 | g.155811887_155811888insG | CA645541376 | SHH | c.235_236insC (p.Asn79ThrfsTer9) | COSMIC |
| 7 | g.155811888T>A | CA370151318 | SHH | c.235A>T (p.Asn79Tyr) | |
| 7 | g.155811888T>C | CA370151323 | SHH | c.235A>G (p.Asn79Asp) | |
| 7 | g.155811888T>G | CA370151321 | SHH | c.235A>C (p.Asn79His) | dbSNP |
| 7 | g.155811888T= | CA1754783632 | SHH | c.235A= (p.Asn79=) | |
| 7 | g.155811889G>A | CA458893337 | SHH | c.234C>T (p.Pro78=) | gnomAD v4 |
| 7 | g.155811889G>C | CA458893338 | SHH | c.234C>G (p.Pro78=) | gnomAD v4 |
| 7 | g.155811889G>T | CA458893339 | SHH | c.234C>A (p.Pro78=) | gnomAD v4 |
| 7 | g.155811893del | CA2695208858 | SHH | c.234del (p.Asn79IlefsTer19) | |
| 7 | g.155811890G>A | CA370151326 | SHH | c.233C>T (p.Pro78Leu) | |
| 7 | g.155811890G>C | CA370151329 | SHH | c.233C>G (p.Pro78Arg) | |
| 7 | g.155811890G>T | CA370151332 | SHH | c.233C>A (p.Pro78His) | |
| 7 | g.155811891G>A | CA370151335 | SHH | c.232C>T (p.Pro78Ser) | |
| 7 | g.155811891G>C | CA370151338 | SHH | c.232C>G (p.Pro78Ala) | |
| 7 | g.155811891G>T | CA370151340 | SHH | c.232C>A (p.Pro78Thr) | |
| 7 | g.155811892G>A | CA458893341 | SHH | c.231C>T (p.Thr77=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.155811892G>C | CA458893342 | SHH | c.231C>G (p.Thr77=) | |
| 7 | g.155811892G= | CA1754783640 | SHH | c.231C= (p.Thr77=) | |
| 7 | g.155811892G>T | CA458893343 | SHH | c.231C>A (p.Thr77=) | |
| 7 | g.155811893G>A | CA370151351 | SHH | c.230C>T (p.Thr77Ile) | dbSNP gnomAD v4 |
| 7 | g.155811893G>C | CA370151349 | SHH | c.230C>G (p.Thr77Ser) | |
| 7 | g.155811893G= | CA1754783648 | SHH | c.230C= (p.Thr77=) | |
| 7 | g.155811893G>T | CA370151344 | SHH | c.230C>A (p.Thr77Asn) | |
| 7 | g.155811894T>A | CA370151353 | SHH | c.229A>T (p.Thr77Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.155811894T>C | CA370151355 | SHH | c.229A>G (p.Thr77Ala) | |
| 7 | g.155811894T>G | CA370151360 | SHH | c.229A>C (p.Thr77Pro) | gnomAD v4 |
| 7 | g.155811894T= | CA1754783658 | SHH | c.229A= (p.Thr77=) | |
| 7 | g.155811894dup | CA2695208755 | SHH | c.229dup (p.Thr77AsnfsTer11) | |
| 7 | g.155811895G>A | CA458893347 | SHH | c.228C>T (p.Leu76=) | |
| 7 | g.155811895G>C | CA458893348 | SHH | c.228C>G (p.Leu76=) | |
| 7 | g.155811895G>T | CA458893350 | SHH | c.228C>A (p.Leu76=) | |
| 7 | g.155811896A>C | CA370151362 | SHH | c.227T>G (p.Leu76Arg) | |
| 7 | g.155811896A>G | CA370151365 | SHH | c.227T>C (p.Leu76Pro) | COSMIC |
| 7 | g.155811896A>T | CA370151369 | SHH | c.227T>A (p.Leu76His) | |
| 7 | g.155811897G>A | CA370151383 | SHH | c.226C>T (p.Leu76Phe) | |
| 7 | g.155811897G>C | CA370151379 | SHH | c.226C>G (p.Leu76Val) | |
| 7 | g.155811897G>T | CA370151382 | SHH | c.226C>A (p.Leu76Ile) | |
| 7 | g.155811898T>A | CA370151389 | SHH | c.225A>T (p.Glu75Asp) | |
| 7 | g.155811898T>C | CA458893351 | SHH | c.225A>G (p.Glu75=) | |
| 7 | g.155811898T>G | CA370151391 | SHH | c.225A>C (p.Glu75Asp) | gnomAD v4 |
| 7 | g.155811899T>A | CA370151393 | SHH | c.224A>T (p.Glu75Val) | |
| 7 | g.155811899T>C | CA370151394 | SHH | c.224A>G (p.Glu75Gly) | dbSNP |
| 7 | g.155811899T>G | CA370151396 | SHH | c.224A>C (p.Glu75Ala) | |
| 7 | g.155811899T= | CA1754783670 | SHH | c.224A= (p.Glu75=) | |
| 7 | g.155811900C>A | CA370151399 | SHH | c.223G>T (p.Glu75Ter) | |
| 7 | g.155811900C>G | CA370151401 | SHH | c.223G>C (p.Glu75Gln) | dbSNP |
| 7 | g.155811900C>T | CA370151403 | SHH | c.223G>A (p.Glu75Lys) | COSMIC |
| 7 | g.155811901C>A | CA370151407 | SHH | c.222G>T (p.Lys74Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.155811901C= | CA1754783672 | SHH | c.222G= (p.Lys74=) | |
| 7 | g.155811901C>G | CA370151409 | SHH | c.222G>C (p.Lys74Asn) | |
| 7 | g.155811901C>T | CA458893353 | SHH | c.222G>A (p.Lys74=) | |
| 7 | g.155811902T>A | CA370151413 | SHH | c.221A>T (p.Lys74Met) | |
| 7 | g.155811902T>C | CA370151415 | SHH | c.221A>G (p.Lys74Arg) | |
| 7 | g.155811902T>G | CA370151416 | SHH | c.221A>C (p.Lys74Thr) | |
| 7 | g.155811903T>A | CA370151420 | SHH | c.220A>T (p.Lys74Ter) | |
| 7 | g.155811903T>C | CA370151425 | SHH | c.220A>G (p.Lys74Glu) | gnomAD v4 |
| 7 | g.155811903T>G | CA370151422 | SHH | c.220A>C (p.Lys74Gln) | |
| 7 | g.155811904A>C | CA370151427 | SHH | c.219T>G (p.Phe73Leu) | |
| 7 | g.155811904A>G | CA458893357 | SHH | c.219T>C (p.Phe73=) | |
| 7 | g.155811904A>T | CA370151430 | SHH | c.219T>A (p.Phe73Leu) | |
| 7 | g.155811905A>C | CA370151434 | SHH | c.218T>G (p.Phe73Cys) | COSMIC |
| 7 | g.155811905A>G | CA370151437 | SHH | c.218T>C (p.Phe73Ser) | |
| 7 | g.155811905A>T | CA370151441 | SHH | c.218T>A (p.Phe73Tyr) | |
| 7 | g.155811906A= | CA1754783673 | SHH | c.217T= (p.Phe73=) | |
| 7 | g.155811906A>C | CA169426209 | SHH | c.217T>G (p.Phe73Val) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.155811906A>G | CA370151447 | SHH | c.217T>C (p.Phe73Leu) | |
| 7 | g.155811906A>T | CA370151445 | SHH | c.217T>A (p.Phe73Ile) | |
| 7 | g.155811907T>A | CA458893362 | SHH | c.216A>T (p.Arg72=) | |
| 7 | g.155811907T>C | CA458893360 | SHH | c.216A>G (p.Arg72=) | |
| 7 | g.155811907T>G | CA458893359 | SHH | c.216A>C (p.Arg72=) | |
| 7 | g.155811908C>A | CA370151453 | SHH | c.215G>T (p.Arg72Leu) | |
| 7 | g.155811908C= | CA1754783674 | SHH | c.215G= (p.Arg72=) | |
| 7 | g.155811908C>G | CA370151455 | SHH | c.215G>C (p.Arg72Pro) | |
| 7 | g.155811908C>T | CA370151457 | SHH | c.215G>A (p.Arg72Gln) | dbSNP |
| 7 | g.155811909G>A | CA370151461 | SHH | c.214C>T (p.Arg72Ter) | ClinVar dbSNP |
| 7 | g.155811909G>C | CA370151463 | SHH | c.214C>G (p.Arg72Gly) | gnomAD v4 |
| 7 | g.155811909G= | CA1754783675 | SHH | c.214C= (p.Arg72=) | |
| 7 | g.155811909G>T | CA4587079 | SHH | c.214C>A (p.Arg72=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.155811910C>A | CA370151468 | SHH | c.213G>T (p.Glu71Asp) | |
| 7 | g.155811910C= | CA1754783676 | SHH | c.213G= (p.Glu71=) | |
| 7 | g.155811910C>G | CA370151480 | SHH | c.213G>C (p.Glu71Asp) | |
| 7 | g.155811910C>T | CA4587080 | SHH | c.213G>A (p.Glu71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.155811911T>A | CA370151484 | SHH | c.212A>T (p.Glu71Val) | |
| 7 | g.155811911T>C | CA370151487 | SHH | c.212A>G (p.Glu71Gly) | ClinVar dbSNP |
| 7 | g.155811911T>G | CA370151490 | SHH | c.212A>C (p.Glu71Ala) | |
| 7 | g.155811911T= | CA1754783679 | SHH | c.212A= (p.Glu71=) | |
| 7 | g.155811912del | CA2695208756 | SHH | c.211del (p.Glu71SerfsTer27) | |
| 7 | g.155811912C>A | CA370151493 | SHH | c.211G>T (p.Glu71Ter) | |
| 7 | g.155811912C= | CA1754783682 | SHH | c.211G= (p.Glu71=) | |
| 7 | g.155811912C>G | CA370151497 | SHH | c.211G>C (p.Glu71Gln) | ClinVar dbSNP |
| 7 | g.155811912C>T | CA370151499 | SHH | c.211G>A (p.Glu71Lys) | |
| 7 | g.155811913G>A | CA4587081 | SHH | c.210C>T (p.Ser70=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.155811913G>C | CA458893367 | SHH | c.210C>G (p.Ser70=) | |
| 7 | g.155811913G= | CA1754783686 | SHH | c.210C= (p.Ser70=) | |
| 7 | g.155811913G>T | CA458893366 | SHH | c.210C>A (p.Ser70=) | |
| 7 | g.155811914dup | CA2695208757 | SHH | c.210dup (p.Glu71ArgfsTer4) | |
| 7 | g.155811914G>A | CA370151504 | SHH | c.209C>T (p.Ser70Phe) | |
| 7 | g.155811914G>C | CA370151507 | SHH | c.209C>G (p.Ser70Cys) | |
| 7 | g.155811914G>T | CA370151510 | SHH | c.209C>A (p.Ser70Tyr) | |
| 7 | g.155811915A>C | CA370151513 | SHH | c.208T>G (p.Ser70Ala) | |
| 7 | g.155811915A>G | CA370151520 | SHH | c.208T>C (p.Ser70Pro) | |
| 7 | g.155811915A>T | CA370151515 | SHH | c.208T>A (p.Ser70Thr) | |
| 7 | g.155811916G>A | CA458893371 | SHH | c.207C>T (p.Asn69=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.155811916G>C | CA370151523 | SHH | c.207C>G (p.Asn69Lys) | |
| 7 | g.155811916G= | CA1754783690 | SHH | c.207C= (p.Asn69=) | |
| 7 | g.155811916G>T | CA370151526 | SHH | c.207C>A (p.Asn69Lys) | |
| 7 | g.155811917T>A | CA4587082 | SHH | c.206A>T (p.Asn69Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.155811917T>C | CA370151532 | SHH | c.206A>G (p.Asn69Ser) | gnomAD v4 |
| 7 | g.155811917T>G | CA370151535 | SHH | c.206A>C (p.Asn69Thr) | |
| 7 | g.155811917T= | CA1754783699 | SHH | c.206A= (p.Asn69=) | |
| 7 | g.155811918T>A | CA370151538 | SHH | c.205A>T (p.Asn69Tyr) | |
| 7 | g.155811918T>C | CA370151541 | SHH | c.205A>G (p.Asn69Asp) | |
| 7 | g.155811918T>G | CA370151542 | SHH | c.205A>C (p.Asn69His) | ClinVar dbSNP |
| 7 | g.155811919T>A | CA370151546 | SHH | c.204A>T (p.Arg68Ser) | |
| 7 | g.155811919T>C | CA169426230 | SHH | c.204A>G (p.Arg68=) | dbSNP gnomAD v4 |
| 7 | g.155811919T>G | CA370151552 | SHH | c.204A>C (p.Arg68Ser) | |
| 7 | g.155811919T= | CA1754783704 | SHH | c.204A= (p.Arg68=) | |
| 7 | g.155811920C>A | CA370151555 | SHH | c.203G>T (p.Arg68Ile) | |
| 7 | g.155811920C>G | CA370151557 | SHH | c.203G>C (p.Arg68Thr) | |
| 7 | g.155811920C>T | CA370151560 | SHH | c.203G>A (p.Arg68Lys) | gnomAD v4 |
| 7 | g.155811921T>A | CA370151564 | SHH | c.202A>T (p.Arg68Ter) | dbSNP |
| 7 | g.155811921T>C | CA370151562 | SHH | c.202A>G (p.Arg68Gly) | |
| 7 | g.155811921T>G | CA458893379 | SHH | c.202A>C (p.Arg68=) | |
| 7 | g.155811922G>A | CA458893380 | SHH | c.201C>T (p.Ser67=) | |
| 7 | g.155811922G>C | CA458893381 | SHH | c.201C>G (p.Ser67=) | |
| 7 | g.155811922G>T | CA458893382 | SHH | c.201C>A (p.Ser67=) | |
| 7 | g.155811923G>A | CA370151567 | SHH | c.200C>T (p.Ser67Phe) | |
| 7 | g.155811923G>C | CA4587083 | SHH | c.200C>G (p.Ser67Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.155811923G= | CA1754783715 | SHH | c.200C= (p.Ser67=) | |
| 7 | g.155811923G>T | CA370151571 | SHH | c.200C>A (p.Ser67Tyr) | |
| 7 | g.155811924A>C | CA370151575 | SHH | c.199T>G (p.Ser67Ala) | |
| 7 | g.155811924A>G | CA370151578 | SHH | c.199T>C (p.Ser67Pro) | dbSNP |
| 7 | g.155811924A>T | CA370151580 | SHH | c.199T>A (p.Ser67Thr) | |
| 7 | g.155811925G>A | CA458893383 | SHH | c.198C>T (p.Ile66=) | |
| 7 | g.155811925G>C | CA4587084 | SHH | c.198C>G (p.Ile66Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.155811925G= | CA1754783723 | SHH | c.198C= (p.Ile66=) | |
| 7 | g.155811925G>T | CA458893384 | SHH | c.198C>A (p.Ile66=) | gnomAD v4 |
| 7 | g.155811926A>C | CA370151587 | SHH | c.197T>G (p.Ile66Ser) | gnomAD v4 |
| 7 | g.155811926A>G | CA370151588 | SHH | c.197T>C (p.Ile66Thr) | |
| 7 | g.155811926A>T | CA370151591 | SHH | c.197T>A (p.Ile66Asn) | |
| 7 | g.155811927T>A | CA370151594 | SHH | c.196A>T (p.Ile66Phe) | |
| 7 | g.155811927T>C | CA370151596 | SHH | c.196A>G (p.Ile66Val) | |
| 7 | g.155811927T>G | CA370151604 | SHH | c.196A>C (p.Ile66Leu) | |
| 7 | g.155811928C>A | CA370151606 | SHH | c.195G>T (p.Lys65Asn) | ClinVar |
| 7 | g.155811928C>G | CA370151609 | SHH | c.195G>C (p.Lys65Asn) | |
| 7 | g.155811928C>T | CA458893385 | SHH | c.195G>A (p.Lys65=) | |
| 7 | g.155811929T>A | CA370151612 | SHH | c.194A>T (p.Lys65Met) | |
| 7 | g.155811929T>C | CA370151615 | SHH | c.194A>G (p.Lys65Arg) | |
| 7 | g.155811929T>G | CA370151618 | SHH | c.194A>C (p.Lys65Thr) | |
| 7 | g.155811930T>A | CA370151621 | SHH | c.193A>T (p.Lys65Ter) | |
| 7 | g.155811930T>C | CA370151623 | SHH | c.193A>G (p.Lys65Glu) | |
| 7 | g.155811930T>G | CA370151626 | SHH | c.193A>C (p.Lys65Gln) | |
| 7 | g.155811931C>A | CA458893387 | SHH | c.192G>T (p.Gly64=) | |
| 7 | g.155811931C= | CA1754783729 | SHH | c.192G= (p.Gly64=) | |
| 7 | g.155811931C>G | CA458893388 | SHH | c.192G>C (p.Gly64=) | dbSNP gnomAD v2 |
| 7 | g.155811931C>T | CA458893389 | SHH | c.192G>A (p.Gly64=) | dbSNP gnomAD v4 |
| 7 | g.155811932C>A | CA370151633 | SHH | c.191G>T (p.Gly64Val) | |
| 7 | g.155811932C= | CA1754783751 | SHH | c.191G= (p.Gly64=) | |
| 7 | g.155811932C>G | CA370151629 | SHH | c.191G>C (p.Gly64Ala) | dbSNP |
| 7 | g.155811932C>T | CA370151632 | SHH | c.191G>A (p.Gly64Glu) | |
| 7 | g.155811933C>A | CA370151634 | SHH | c.190G>T (p.Gly64Trp) | |
| 7 | g.155811933C>G | CA370151635 | SHH | c.190G>C (p.Gly64Arg) | |
| 7 | g.155811933C>T | CA370151636 | SHH | c.190G>A (p.Gly64Arg) | gnomAD v4 |
| 7 | g.155811934T>A | CA370151638 | SHH | c.189A>T (p.Glu63Asp) | |
| 7 | g.155811934T>C | CA458893391 | SHH | c.189A>G (p.Glu63=) | gnomAD v4 |
| 7 | g.155811934T>G | CA370151640 | SHH | c.189A>C (p.Glu63Asp) | |
| 7 | g.155811935T>A | CA370151642 | SHH | c.188A>T (p.Glu63Val) | |
| 7 | g.155811935T>C | CA370151645 | SHH | c.188A>G (p.Glu63Gly) | |
| 7 | g.155811935T>G | CA370151644 | SHH | c.188A>C (p.Glu63Ala) | |
| 7 | g.155811936C>A | CA370151648 | SHH | c.187G>T (p.Glu63Ter) | |
| 7 | g.155811936C>G | CA370151651 | SHH | c.187G>C (p.Glu63Gln) | |
| 7 | g.155811936C>T | CA370151652 | SHH | c.187G>A (p.Glu63Lys) | |
| 7 | g.155811937A= | CA1754783760 | SHH | c.186T= (p.Tyr62=) | |
| 7 | g.155811937A>C | CA370151655 | SHH | c.186T>G (p.Tyr62Ter) | |
| 7 | g.155811937A>G | CA458893393 | SHH | c.186T>C (p.Tyr62=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.155811937A>T | CA370151656 | SHH | c.186T>A (p.Tyr62Ter) | |
| 7 | g.155811938T>A | CA370151660 | SHH | c.185A>T (p.Tyr62Phe) | |
| 7 | g.155811938T>C | CA370151662 | SHH | c.185A>G (p.Tyr62Cys) | |
| 7 | g.155811938T>G | CA370151664 | SHH | c.185A>C (p.Tyr62Ser) | gnomAD v4 |
| 7 | g.155811939A= | CA1754783769 | SHH | c.184T= (p.Tyr62=) | |
| 7 | g.155811939A>C | CA370151666 | SHH | c.184T>G (p.Tyr62Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.155811939A>G | CA370151672 | SHH | c.184T>C (p.Tyr62His) | |
| 7 | g.155811939A>T | CA370151675 | SHH | c.184T>A (p.Tyr62Asn) | |
| 7 | g.155811940C>A | CA4587085 | SHH | c.183G>T (p.Arg61Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.155811940C= | CA1754783777 | SHH | c.183G= (p.Arg61=) | |
| 7 | g.155811940C>G | CA370151677 | SHH | c.183G>C (p.Arg61Ser) | |
| 7 | g.155811940C>T | CA458893397 | SHH | c.183G>A (p.Arg61=) | |
| 7 | g.155811941C>A | CA370151682 | SHH | c.182G>T (p.Arg61Met) | |
| 7 | g.155811941C>G | CA370151690 | SHH | c.182G>C (p.Arg61Thr) | gnomAD v4 |
| 7 | g.155811941C>T | CA370151688 | SHH | c.182G>A (p.Arg61Lys) | |
| 7 | g.155811942T>A | CA370151691 | SHH | c.181A>T (p.Arg61Trp) | |
| 7 | g.155811942T>C | CA370151692 | SHH | c.181A>G (p.Arg61Gly) | |
| 7 | g.155811942T>G | CA458893401 | SHH | c.181A>C (p.Arg61=) | |
| 7 | g.155811943T>A | CA458893405 | SHH | c.180A>T (p.Gly60=) | |
| 7 | g.155811943T>C | CA458893406 | SHH | c.180A>G (p.Gly60=) | dbSNP gnomAD v4 |
| 7 | g.155811943T>G | CA458893407 | SHH | c.180A>C (p.Gly60=) | |
| 7 | g.155811943T= | CA1754783783 | SHH | c.180A= (p.Gly60=) | |
| 7 | g.155811944C>A | CA370151693 | SHH | c.179G>T (p.Gly60Val) | |
| 7 | g.155811944C>G | CA370151695 | SHH | c.179G>C (p.Gly60Ala) | |
| 7 | g.155811944C>T | CA370151698 | SHH | c.179G>A (p.Gly60Glu) | |
| 7 | g.155811945C>A | CA370151701 | SHH | c.178G>T (p.Gly60Ter) | |
| 7 | g.155811945C>G | CA370151704 | SHH | c.178G>C (p.Gly60Arg) | |
| 7 | g.155811945C>T | CA370151706 | SHH | c.178G>A (p.Gly60Arg) | |
| 7 | g.155811946G>A | CA4587086 | SHH | c.177C>T (p.Ser59=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.155811946G>C | CA370151710 | SHH | c.177C>G (p.Ser59Arg) | |
| 7 | g.155811946G= | CA1754783790 | SHH | c.177C= (p.Ser59=) | |
| 7 | g.155811946G>T | CA370151712 | SHH | c.177C>A (p.Ser59Arg) | ClinVar |
| 7 | g.155811947C>A | CA370151724 | SHH | c.176G>T (p.Ser59Ile) | |
| 7 | g.155811947C>G | CA370151721 | SHH | c.176G>C (p.Ser59Thr) | |
| 7 | g.155811947C>T | CA370151719 | SHH | c.176G>A (p.Ser59Asn) | |
| 7 | g.155811948T>A | CA370151728 | SHH | c.175A>T (p.Ser59Cys) | |
| 7 | g.155811948T>C | CA370151730 | SHH | c.175A>G (p.Ser59Gly) | |
| 7 | g.155811948T>G | CA370151733 | SHH | c.175A>C (p.Ser59Arg) | |
| 7 | g.155811949G>A | CA458893410 | SHH | c.174C>T (p.Ala58=) | |
| 7 | g.155811949G>C | CA458893411 | SHH | c.174C>G (p.Ala58=) | |
| 7 | g.155811949G>T | CA458893412 | SHH | c.174C>A (p.Ala58=) | |
| 7 | g.155811950G>A | CA370151737 | SHH | c.173C>T (p.Ala58Val) | |
| 7 | g.155811950G>C | CA370151739 | SHH | c.173C>G (p.Ala58Gly) | |
| 7 | g.155811950G>T | CA370151741 | SHH | c.173C>A (p.Ala58Asp) | |
| 7 | g.155811951C>A | CA370151743 | SHH | c.172G>T (p.Ala58Ser) | gnomAD v4 |
| 7 | g.155811951C>G | CA370151745 | SHH | c.172G>C (p.Ala58Pro) | |
| 7 | g.155811951C>T | CA370151747 | SHH | c.172G>A (p.Ala58Thr) | dbSNP |
| 7 | g.155811952G>A | CA458893413 | SHH | c.171C>T (p.Gly57=) | |
| 7 | g.155811952G>C | CA169426249 | SHH | c.171C>G (p.Gly57=) | dbSNP |
| 7 | g.155811952G= | CA1754783795 | SHH | c.171C= (p.Gly57=) | |
| 7 | g.155811952G>T | CA458893414 | SHH | c.171C>A (p.Gly57=) | COSMIC |
| 7 | g.155811953C>A | CA370151751 | SHH | c.170G>T (p.Gly57Val) | |
| 7 | g.155811953C>G | CA370151753 | SHH | c.170G>C (p.Gly57Ala) | |
| 7 | g.155811953C>T | CA370151756 | SHH | c.170G>A (p.Gly57Asp) | gnomAD v4 |
| 7 | g.155811954C>A | CA370151761 | SHH | c.169G>T (p.Gly57Cys) | |
| 7 | g.155811954C>G | CA370151760 | SHH | c.169G>C (p.Gly57Arg) | |
| 7 | g.155811954C>T | CA370151759 | SHH | c.169G>A (p.Gly57Ser) | |
| 7 | g.155811955T>A | CA458893415 | SHH | c.168A>T (p.Leu56=) | |
| 7 | g.155811955T>C | CA458893416 | SHH | c.168A>G (p.Leu56=) | |
| 7 | g.155811955T>G | CA458893417 | SHH | c.168A>C (p.Leu56=) | |
| 7 | g.155811956A>C | CA370151769 | SHH | c.167T>G (p.Leu56Arg) | |
| 7 | g.155811956A>G | CA370151764 | SHH | c.167T>C (p.Leu56Pro) | |
| 7 | g.155811956A>T | CA370151767 | SHH | c.167T>A (p.Leu56Gln) | |
| 7 | g.155811957G>A | CA458893418 | SHH | c.166C>T (p.Leu56=) | |
| 7 | g.155811957G>C | CA370151772 | SHH | c.166C>G (p.Leu56Val) | |
| 7 | g.155811957G>T | CA370151773 | SHH | c.166C>A (p.Leu56Ile) | |
| 7 | g.155811960_155811978del | CA2695208758 | SHH | c.148_166del (p.Asn50Ter) | |
| 7 | g.155811958G>A | CA458893419 | SHH | c.165C>T (p.Thr55=) | |
| 7 | g.155811958G>C | CA458893420 | SHH | c.165C>G (p.Thr55=) | dbSNP |
| 7 | g.155811958G= | CA1754783804 | SHH | c.165C= (p.Thr55=) | |
| 7 | g.155811958G>T | CA458893421 | SHH | c.165C>A (p.Thr55=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.155811959G>A | CA370151776 | SHH | c.164C>T (p.Thr55Ile) | |
| 7 | g.155811959G>C | CA370151786 | SHH | c.164C>G (p.Thr55Ser) | |
| 7 | g.155811959G>T | CA370151790 | SHH | c.164C>A (p.Thr55Asn) | |
| 7 | g.155811960T>A | CA370151794 | SHH | c.163A>T (p.Thr55Ser) | |
| 7 | g.155811960T>C | CA370151798 | SHH | c.163A>G (p.Thr55Ala) | |
| 7 | g.155811960T>G | CA370151800 | SHH | c.163A>C (p.Thr55Pro) | |
| 7 | g.155811961C>A | CA370151806 | SHH | c.162G>T (p.Lys54Asn) | gnomAD v4 |
| 7 | g.155811961C= | CA1754783810 | SHH | c.162G= (p.Lys54=) | |
| 7 | g.155811961C>G | CA370151807 | SHH | c.162G>C (p.Lys54Asn) | |
| 7 | g.155811961C>T | CA4587087 | SHH | c.162G>A (p.Lys54=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.155811962T>A | CA370151813 | SHH | c.161A>T (p.Lys54Met) | |
| 7 | g.155811962T>C | CA370151817 | SHH | c.161A>G (p.Lys54Arg) | |
| 7 | g.155811962T>G | CA370151811 | SHH | c.161A>C (p.Lys54Thr) | |
| 7 | g.155811963T>A | CA370151819 | SHH | c.160A>T (p.Lys54Ter) | |
| 7 | g.155811963T>C | CA370151822 | SHH | c.160A>G (p.Lys54Glu) | |
| 7 | g.155811963T>G | CA370151827 | SHH | c.160A>C (p.Lys54Gln) | |
| 7 | g.155811964C>A | CA370151832 | SHH | c.159G>T (p.Glu53Asp) | |
| 7 | g.155811964C>G | CA370151834 | SHH | c.159G>C (p.Glu53Asp) | |
| 7 | g.155811964C>T | CA458893422 | SHH | c.159G>A (p.Glu53=) | COSMIC |
| 7 | g.155811965T>A | CA370151842 | SHH | c.158A>T (p.Glu53Val) | |
| 7 | g.155811965T>C | CA370151840 | SHH | c.158A>G (p.Glu53Gly) | |
| 7 | g.155811965T>G | CA370151841 | SHH | c.158A>C (p.Glu53Ala) | |
| 7 | g.155811965_155811966delinsAA | CA2580077763 | SHH | c.157_158delinsTT (p.Glu53Leu) | ClinVar dbSNP |
| 7 | g.155811966C>A | CA370151844 | SHH | c.157G>T (p.Glu53Ter) | |
| 7 | g.155811966C>G | CA370151845 | SHH | c.157G>C (p.Glu53Gln) | |
| 7 | g.155811966C>T | CA370151847 | SHH | c.157G>A (p.Glu53Lys) |