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.152868907C>A | CA415287297 | NSDHL | c.913C>A (p.Leu305Ile) c.961C>A (p.Leu321Ile) | |
| X | g.152868907C= | CA2466154406 | NSDHL | c.913C= (p.Leu305=) c.961C= (p.Leu321=) | |
| X | g.152868907C>G | CA415287298 | NSDHL | c.913C>G (p.Leu305Val) c.961C>G (p.Leu321Val) | |
| X | g.152868907C>T | CA10544876 | NSDHL | c.913C>T (p.Leu305Phe) c.961C>T (p.Leu321Phe) | dbSNP ExAC |
| X | g.152868908T>A | CA415287299 | NSDHL | c.914T>A (p.Leu305His) c.962T>A (p.Leu321His) | |
| X | g.152868908T>C | CA415287300 | NSDHL | c.914T>C (p.Leu305Pro) c.962T>C (p.Leu321Pro) | |
| X | g.152868908T>G | CA10544877 | NSDHL | c.914T>G (p.Leu305Arg) c.962T>G (p.Leu321Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152868908T= | CA2466154407 | NSDHL | c.914T= (p.Leu305=) c.962T= (p.Leu321=) | |
| X | g.152868909C>A | CA519182632 | NSDHL | c.915C>A (p.Leu305=) c.963C>A (p.Leu321=) | |
| X | g.152868909C= | CA2466154408 | NSDHL | c.915C= (p.Leu305=) c.963C= (p.Leu321=) | |
| X | g.152868909C>G | CA519182634 | NSDHL | c.915C>G (p.Leu305=) c.963C>G (p.Leu321=) | |
| X | g.152868909C>T | CA10544878 | NSDHL | c.915C>T (p.Leu305=) c.963C>T (p.Leu321=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.152868910C>A | CA415287302 | NSDHL | c.916C>A (p.Leu306Met) c.964C>A (p.Leu322Met) | |
| X | g.152868910C>G | CA415287301 | NSDHL | c.916C>G (p.Leu306Val) c.964C>G (p.Leu322Val) | |
| X | g.152868910C>T | CA519182635 | NSDHL | c.916C>T (p.Leu306=) c.964C>T (p.Leu322=) | |
| X | g.152868911T>A | CA415287303 | NSDHL | c.917T>A (p.Leu306Gln) c.965T>A (p.Leu322Gln) | |
| X | g.152868911T>C | CA415287304 | NSDHL | c.917T>C (p.Leu306Pro) c.965T>C (p.Leu322Pro) | |
| X | g.152868911T>G | CA415287305 | NSDHL | c.917T>G (p.Leu306Arg) c.965T>G (p.Leu322Arg) | |
| X | g.152868912G>A | CA519182638 | NSDHL | c.918G>A (p.Leu306=) c.966G>A (p.Leu322=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152868912G>C | CA519182640 | NSDHL | c.918G>C (p.Leu306=) c.966G>C (p.Leu322=) | gnomAD v4 |
| X | g.152868912G= | CA2466154409 | NSDHL | c.918G= (p.Leu306=) c.966G= (p.Leu322=) | |
| X | g.152868912G>T | CA519182641 | NSDHL | c.918G>T (p.Leu306=) c.966G>T (p.Leu322=) | |
| X | g.152868913C>A | CA415287306 | NSDHL | c.919C>A (p.Leu307Ile) c.967C>A (p.Leu323Ile) | |
| X | g.152868913C= | CA2466154410 | NSDHL | c.919C= (p.Leu307=) c.967C= (p.Leu323=) | |
| X | g.152868913C>G | CA415287307 | NSDHL | c.919C>G (p.Leu307Val) c.967C>G (p.Leu323Val) | dbSNP gnomAD v4 |
| X | g.152868913C>T | CA519182642 | NSDHL | c.919C>T (p.Leu307=) c.967C>T (p.Leu323=) | |
| X | g.152868914T>A | CA415287308 | NSDHL | c.920T>A (p.Leu307Gln) c.968T>A (p.Leu323Gln) | |
| X | g.152868914T>C | CA415287309 | NSDHL | c.920T>C (p.Leu307Pro) c.968T>C (p.Leu323Pro) | |
| X | g.152868914T>G | CA415287310 | NSDHL | c.920T>G (p.Leu307Arg) c.968T>G (p.Leu323Arg) | |
| X | g.152868915A= | CA2466154411 | NSDHL | c.921A= (p.Leu307=) c.969A= (p.Leu323=) | |
| X | g.152868915A>C | CA519182643 | NSDHL | c.921A>C (p.Leu307=) c.969A>C (p.Leu323=) | |
| X | g.152868915A>G | CA10544879 | NSDHL | c.921A>G (p.Leu307=) c.969A>G (p.Leu323=) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
| X | g.152868915A>T | CA519182644 | NSDHL | c.921A>T (p.Leu307=) c.969A>T (p.Leu323=) | |
| X | g.152868916T>A | CA415287311 | NSDHL | c.922T>A (p.Ser308Thr) c.970T>A (p.Ser324Thr) | |
| X | g.152868916T>C | CA415287312 | NSDHL | c.922T>C (p.Ser308Pro) c.970T>C (p.Ser324Pro) | |
| X | g.152868916T>G | CA415287313 | NSDHL | c.922T>G (p.Ser308Ala) c.970T>G (p.Ser324Ala) | |
| X | g.152868917C>A | CA10544880 | NSDHL | c.923C>A (p.Ser308Tyr) c.971C>A (p.Ser324Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.152868917C= | CA2466154412 | NSDHL | c.923C= (p.Ser308=) c.971C= (p.Ser324=) | |
| X | g.152868917C>G | CA415287315 | NSDHL | c.923C>G (p.Ser308Cys) c.971C>G (p.Ser324Cys) | gnomAD v4 |
| X | g.152868917C>T | CA415287314 | NSDHL | c.923C>T (p.Ser308Phe) c.971C>T (p.Ser324Phe) | |
| X | g.152868918C>A | CA519182646 | NSDHL | c.924C>A (p.Ser308=) c.972C>A (p.Ser324=) | |
| X | g.152868918C>G | CA519182647 | NSDHL | c.924C>G (p.Ser308=) c.972C>G (p.Ser324=) | |
| X | g.152868918C>T | CA519182648 | NSDHL | c.924C>T (p.Ser308=) c.972C>T (p.Ser324=) | gnomAD v4 |
| X | g.152868919C>A | CA415287316 | NSDHL | c.925C>A (p.Leu309Met) c.973C>A (p.Leu325Met) | |
| X | g.152868919C= | CA2466154413 | NSDHL | c.925C= (p.Leu309=) c.973C= (p.Leu325=) | |
| X | g.152868919C>G | CA10544881 | NSDHL | c.925C>G (p.Leu309Val) c.973C>G (p.Leu325Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152868919C>T | CA519182650 | NSDHL | c.925C>T (p.Leu309=) c.973C>T (p.Leu325=) | dbSNP |
| X | g.152868920T>A | CA415287317 | NSDHL | c.926T>A (p.Leu309Gln) c.974T>A (p.Leu325Gln) | |
| X | g.152868920T>C | CA415287318 | NSDHL | c.926T>C (p.Leu309Pro) c.974T>C (p.Leu325Pro) | |
| X | g.152868920T>G | CA415287319 | NSDHL | c.926T>G (p.Leu309Arg) c.974T>G (p.Leu325Arg) | |
| X | g.152868921G>A | CA519182651 | NSDHL | c.927G>A (p.Leu309=) c.975G>A (p.Leu325=) | |
| X | g.152868921G>C | CA519182652 | NSDHL | c.927G>C (p.Leu309=) c.975G>C (p.Leu325=) | |
| X | g.152868921G>T | CA519182653 | NSDHL | c.927G>T (p.Leu309=) c.975G>T (p.Leu325=) | |
| X | g.152868922C>A | CA10544882 | NSDHL | c.928C>A (p.Leu310Met) c.976C>A (p.Leu326Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.152868922C= | CA2466154414 | NSDHL | c.928C= (p.Leu310=) c.976C= (p.Leu326=) | |
| X | g.152868922C>G | CA415287320 | NSDHL | c.928C>G (p.Leu310Val) c.976C>G (p.Leu326Val) | |
| X | g.152868922C>T | CA519182655 | NSDHL | c.928C>T (p.Leu310=) c.976C>T (p.Leu326=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.152868923T>A | CA415287321 | NSDHL | c.929T>A (p.Leu310Gln) c.977T>A (p.Leu326Gln) | |
| X | g.152868923T>C | CA415287322 | NSDHL | c.929T>C (p.Leu310Pro) c.977T>C (p.Leu326Pro) | |
| X | g.152868923T>G | CA415287323 | NSDHL | c.929T>G (p.Leu310Arg) c.977T>G (p.Leu326Arg) | |
| X | g.152868924G>A | CA519182656 | NSDHL | c.930G>A (p.Leu310=) c.978G>A (p.Leu326=) | |
| X | g.152868924G>C | CA519182657 | NSDHL | c.930G>C (p.Leu310=) c.978G>C (p.Leu326=) | |
| X | g.152868924G>T | CA519182658 | NSDHL | c.930G>T (p.Leu310=) c.978G>T (p.Leu326=) | |
| X | g.152868925G>A | CA415287324 | NSDHL | c.931G>A (p.Val311Met) c.979G>A (p.Val327Met) | |
| X | g.152868925G>C | CA415287325 | NSDHL | c.931G>C (p.Val311Leu) c.979G>C (p.Val327Leu) | |
| X | g.152868925G>T | CA415287326 | NSDHL | c.931G>T (p.Val311Leu) c.979G>T (p.Val327Leu) | |
| X | g.152868926T>A | CA415287328 | NSDHL | c.932T>A (p.Val311Glu) c.980T>A (p.Val327Glu) | |
| X | g.152868926T>C | CA337613771 | NSDHL | c.932T>C (p.Val311Ala) c.980T>C (p.Val327Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.152868926T>G | CA415287327 | NSDHL | c.932T>G (p.Val311Gly) c.980T>G (p.Val327Gly) | |
| X | g.152868926T= | CA2466154415 | NSDHL | c.932T= (p.Val311=) c.980T= (p.Val327=) | |
| X | g.152868927G>A | CA519182663 | NSDHL | c.933G>A (p.Val311=) c.981G>A (p.Val327=) | |
| X | g.152868927G>C | CA519182664 | NSDHL | c.933G>C (p.Val311=) c.981G>C (p.Val327=) | |
| X | g.152868927G>T | CA519182665 | NSDHL | c.933G>T (p.Val311=) c.981G>T (p.Val327=) | |
| X | g.152868928A>C | CA415287329 | NSDHL | c.934A>C (p.Met312Leu) c.982A>C (p.Met328Leu) | |
| X | g.152868928A>G | CA415287330 | NSDHL | c.934A>G (p.Met312Val) c.982A>G (p.Met328Val) | |
| X | g.152868928A>T | CA415287331 | NSDHL | c.934A>T (p.Met312Leu) c.982A>T (p.Met328Leu) | |
| X | g.152868929T>A | CA415287332 | NSDHL | c.935T>A (p.Met312Lys) c.983T>A (p.Met328Lys) | |
| X | g.152868929T>C | CA415287333 | NSDHL | c.935T>C (p.Met312Thr) c.983T>C (p.Met328Thr) | |
| X | g.152868929T>G | CA415287334 | NSDHL | c.935T>G (p.Met312Arg) c.983T>G (p.Met328Arg) | |
| X | g.152868930G>A | CA415287335 | NSDHL | c.936G>A (p.Met312Ile) c.984G>A (p.Met328Ile) | |
| X | g.152868930G>C | CA415287336 | NSDHL | c.936G>C (p.Met312Ile) c.984G>C (p.Met328Ile) | |
| X | g.152868930G>T | CA415287337 | NSDHL | c.936G>T (p.Met312Ile) c.984G>T (p.Met328Ile) | |
| X | g.152868931G>A | CA337613776 | NSDHL | c.937G>A (p.Val313Met) c.985G>A (p.Val329Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.152868931G>C | CA415287338 | NSDHL | c.937G>C (p.Val313Leu) c.985G>C (p.Val329Leu) | |
| X | g.152868931G= | CA2466154416 | NSDHL | c.937G= (p.Val313=) c.985G= (p.Val329=) | |
| X | g.152868931G>T | CA415287339 | NSDHL | c.937G>T (p.Val313Leu) c.985G>T (p.Val329Leu) | |
| X | g.152868932T>A | CA415287340 | NSDHL | c.938T>A (p.Val313Glu) c.986T>A (p.Val329Glu) | |
| X | g.152868932T>C | CA415287342 | NSDHL | c.938T>C (p.Val313Ala) c.986T>C (p.Val329Ala) | |
| X | g.152868932T>G | CA415287341 | NSDHL | c.938T>G (p.Val313Gly) c.986T>G (p.Val329Gly) | |
| X | g.152868933G>A | CA519182668 | NSDHL | c.939G>A (p.Val313=) c.987G>A (p.Val329=) | |
| X | g.152868933G>C | CA519182670 | NSDHL | c.939G>C (p.Val313=) c.987G>C (p.Val329=) | gnomAD v4 |
| X | g.152868933G= | CA2466154417 | NSDHL | c.939G= (p.Val313=) c.987G= (p.Val329=) | |
| X | g.152868933G>T | CA519182669 | NSDHL | c.939G>T (p.Val313=) c.987G>T (p.Val329=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.152868934A>C | CA415287343 | NSDHL | c.940A>C (p.Ile314Leu) c.988A>C (p.Ile330Leu) | |
| X | g.152868934A>G | CA415287344 | NSDHL | c.940A>G (p.Ile314Val) c.988A>G (p.Ile330Val) | |
| X | g.152868934A>T | CA415287345 | NSDHL | c.940A>T (p.Ile314Phe) c.988A>T (p.Ile330Phe) | |
| X | g.152868935T>A | CA415287346 | NSDHL | c.941T>A (p.Ile314Asn) c.989T>A (p.Ile330Asn) | |
| X | g.152868935T>C | CA415287347 | NSDHL | c.941T>C (p.Ile314Thr) c.989T>C (p.Ile330Thr) | |
| X | g.152868935T>G | CA415287348 | NSDHL | c.941T>G (p.Ile314Ser) c.989T>G (p.Ile330Ser) | |
| X | g.152868936C>A | CA519182675 | NSDHL | c.942C>A (p.Ile314=) c.990C>A (p.Ile330=) | |
| X | g.152868936C= | CA2466154418 | NSDHL | c.942C= (p.Ile314=) c.990C= (p.Ile330=) | |
| X | g.152868936C>G | CA415287349 | NSDHL | c.942C>G (p.Ile314Met) c.990C>G (p.Ile330Met) | |
| X | g.152868936C>T | CA172883 | NSDHL | c.942C>T (p.Ile314=) c.990C>T (p.Ile330=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152868937A>C | CA415287350 | NSDHL | c.943A>C (p.Ser315Arg) c.991A>C (p.Ser331Arg) | |
| X | g.152868937A>G | CA415287351 | NSDHL | c.943A>G (p.Ser315Gly) c.991A>G (p.Ser331Gly) | |
| X | g.152868937A>T | CA415287352 | NSDHL | c.943A>T (p.Ser315Cys) c.991A>T (p.Ser331Cys) | |
| X | g.152868938G>A | CA415287355 | NSDHL | c.944G>A (p.Ser315Asn) c.992G>A (p.Ser331Asn) | |
| X | g.152868938G>C | CA415287354 | NSDHL | c.944G>C (p.Ser315Thr) c.992G>C (p.Ser331Thr) | |
| X | g.152868938G>T | CA415287353 | NSDHL | c.944G>T (p.Ser315Ile) c.992G>T (p.Ser331Ile) | |
| X | g.152868939T>A | CA415287356 | NSDHL | c.945T>A (p.Ser315Arg) c.993T>A (p.Ser331Arg) | COSMIC |
| X | g.152868939T>C | CA519182679 | NSDHL | c.945T>C (p.Ser315=) c.993T>C (p.Ser331=) | gnomAD v4 |
| X | g.152868939T>G | CA415287357 | NSDHL | c.945T>G (p.Ser315Arg) c.993T>G (p.Ser331Arg) | |
| X | g.152868940C>A | CA415287358 | NSDHL | c.946C>A (p.Pro316Thr) c.994C>A (p.Pro332Thr) | |
| X | g.152868940C= | CA2466154419 | NSDHL | c.946C= (p.Pro316=) c.994C= (p.Pro332=) | |
| X | g.152868940C>G | CA415287359 | NSDHL | c.946C>G (p.Pro316Ala) c.994C>G (p.Pro332Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.152868940C>T | CA415287360 | NSDHL | c.946C>T (p.Pro316Ser) c.994C>T (p.Pro332Ser) | gnomAD v4 |
| X | g.152868941C>A | CA415287361 | NSDHL | c.947C>A (p.Pro316His) c.995C>A (p.Pro332His) | |
| X | g.152868941C= | CA2466154420 | NSDHL | c.947C= (p.Pro316=) c.995C= (p.Pro332=) | |
| X | g.152868941C>G | CA10544883 | NSDHL | c.947C>G (p.Pro316Arg) c.995C>G (p.Pro332Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.152868941C>T | CA415287362 | NSDHL | c.947C>T (p.Pro316Leu) c.995C>T (p.Pro332Leu) | gnomAD v4 |
| X | g.152868942T>A | CA519182686 | NSDHL | c.948T>A (p.Pro316=) c.996T>A (p.Pro332=) | |
| X | g.152868942T>C | CA519182687 | NSDHL | c.948T>C (p.Pro316=) c.996T>C (p.Pro332=) | |
| X | g.152868942T>G | CA519182688 | NSDHL | c.948T>G (p.Pro316=) c.996T>G (p.Pro332=) | |
| X | g.152868943G>A | CA415287363 | NSDHL | c.949G>A (p.Val317Ile) c.997G>A (p.Val333Ile) | |
| X | g.152868943G>C | CA415287364 | NSDHL | c.949G>C (p.Val317Leu) c.997G>C (p.Val333Leu) | |
| X | g.152868943G>T | CA415287365 | NSDHL | c.949G>T (p.Val317Phe) c.997G>T (p.Val333Phe) | |
| X | g.152868944T>A | CA415287368 | NSDHL | c.950T>A (p.Val317Asp) c.998T>A (p.Val333Asp) | dbSNP |
| X | g.152868944T>C | CA415287367 | NSDHL | c.950T>C (p.Val317Ala) c.998T>C (p.Val333Ala) | |
| X | g.152868944T>G | CA415287366 | NSDHL | c.950T>G (p.Val317Gly) c.998T>G (p.Val333Gly) | |
| X | g.152868944T= | CA2466154421 | NSDHL | c.950T= (p.Val317=) c.998T= (p.Val333=) | |
| X | g.152868945C>A | CA519182693 | NSDHL | c.951C>A (p.Val317=) c.999C>A (p.Val333=) | |
| X | g.152868945C>G | CA519182694 | NSDHL | c.951C>G (p.Val317=) c.999C>G (p.Val333=) | |
| X | g.152868945C>T | CA519182697 | NSDHL | c.951C>T (p.Val317=) c.999C>T (p.Val333=) | |
| X | g.152868946A>C | CA415287369 | NSDHL | c.952A>C (p.Ile318Leu) c.1000A>C (p.Ile334Leu) | |
| X | g.152868946A>G | CA415287370 | NSDHL | c.952A>G (p.Ile318Val) c.1000A>G (p.Ile334Val) | |
| X | g.152868946A>T | CA415287371 | NSDHL | c.952A>T (p.Ile318Phe) c.1000A>T (p.Ile334Phe) | |
| X | g.152868947T>A | CA415287372 | NSDHL | c.953T>A (p.Ile318Asn) c.1001T>A (p.Ile334Asn) | gnomAD v4 |
| X | g.152868947T>C | CA415287373 | NSDHL | c.953T>C (p.Ile318Thr) c.1001T>C (p.Ile334Thr) | COSMIC |
| X | g.152868947T>G | CA415287374 | NSDHL | c.953T>G (p.Ile318Ser) c.1001T>G (p.Ile334Ser) | |
| X | g.152868948C>A | CA519182702 | NSDHL | c.954C>A (p.Ile318=) c.1002C>A (p.Ile334=) | |
| X | g.152868948C= | CA2466154422 | NSDHL | c.954C= (p.Ile318=) c.1002C= (p.Ile334=) | |
| X | g.152868948C>G | CA415287375 | NSDHL | c.954C>G (p.Ile318Met) c.1002C>G (p.Ile334Met) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.152868948C>T | CA519182708 | NSDHL | c.954C>T (p.Ile318=) c.1002C>T (p.Ile334=) | dbSNP |
| X | g.152868949C>A | CA415287376 | NSDHL | c.955C>A (p.Gln319Lys) c.1003C>A (p.Gln335Lys) | |
| X | g.152868949C= | CA2466154423 | NSDHL | c.955C= (p.Gln319=) c.1003C= (p.Gln335=) | |
| X | g.152868949C>G | CA10544884 | NSDHL | c.955C>G (p.Gln319Glu) c.1003C>G (p.Gln335Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.152868949C>T | CA415287377 | NSDHL | c.955C>T (p.Gln319Ter) c.1003C>T (p.Gln335Ter) | |
| X | g.152868950A>C | CA415287378 | NSDHL | c.956A>C (p.Gln319Pro) c.1004A>C (p.Gln335Pro) | |
| X | g.152868950A>G | CA415287379 | NSDHL | c.956A>G (p.Gln319Arg) c.1004A>G (p.Gln335Arg) | |
| X | g.152868950A>T | CA415287380 | NSDHL | c.956A>T (p.Gln319Leu) c.1004A>T (p.Gln335Leu) | |
| X | g.152868951G>A | CA519182710 | NSDHL | c.957G>A (p.Gln319=) c.1005G>A (p.Gln335=) | |
| X | g.152868951G>C | CA415287382 | NSDHL | c.957G>C (p.Gln319His) c.1005G>C (p.Gln335His) | gnomAD v4 |
| X | g.152868951G>T | CA415287381 | NSDHL | c.957G>T (p.Gln319His) c.1005G>T (p.Gln335His) | gnomAD v4 |
| X | g.152868952C>A | CA415287383 | NSDHL | c.958C>A (p.Leu320Met) c.1006C>A (p.Leu336Met) | |
| X | g.152868952C= | CA2466154424 | NSDHL | c.958C= (p.Leu320=) c.1006C= (p.Leu336=) | |
| X | g.152868952C>G | CA415287384 | NSDHL | c.958C>G (p.Leu320Val) c.1006C>G (p.Leu336Val) | |
| X | g.152868952C>T | CA519182711 | NSDHL | c.958C>T (p.Leu320=) c.1006C>T (p.Leu336=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.152868953T>A | CA415287385 | NSDHL | c.959T>A (p.Leu320Gln) c.1007T>A (p.Leu336Gln) | |
| X | g.152868953T>C | CA415287386 | NSDHL | c.959T>C (p.Leu320Pro) c.1007T>C (p.Leu336Pro) | |
| X | g.152868953T>G | CA415287387 | NSDHL | c.959T>G (p.Leu320Arg) c.1007T>G (p.Leu336Arg) | |
| X | g.152868954G>A | CA519182715 | NSDHL | c.960G>A (p.Leu320=) c.1008G>A (p.Leu336=) | |
| X | g.152868954G>C | CA519182716 | NSDHL | c.960G>C (p.Leu320=) c.1008G>C (p.Leu336=) | |
| X | g.152868954G= | CA2466154425 | NSDHL | c.960G= (p.Leu320=) c.1008G= (p.Leu336=) | |
| X | g.152868954G>T | CA519182717 | NSDHL | c.960G>T (p.Leu320=) c.1008G>T (p.Leu336=) | dbSNP gnomAD v2 |
| X | g.152868955C>A | CA415287388 | NSDHL | c.961C>A (p.Gln321Lys) c.1009C>A (p.Gln337Lys) | |
| X | g.152868955C>G | CA415287389 | NSDHL | c.961C>G (p.Gln321Glu) c.1009C>G (p.Gln337Glu) | |
| X | g.152868955C>T | CA415287390 | NSDHL | c.961C>T (p.Gln321Ter) c.1009C>T (p.Gln337Ter) | |
| X | g.152868956A>C | CA415287391 | NSDHL | c.962A>C (p.Gln321Pro) c.1010A>C (p.Gln337Pro) | |
| X | g.152868956A>G | CA415287392 | NSDHL | c.962A>G (p.Gln321Arg) c.1010A>G (p.Gln337Arg) | gnomAD v4 |
| X | g.152868956A>T | CA415287393 | NSDHL | c.962A>T (p.Gln321Leu) c.1010A>T (p.Gln337Leu) | |
| X | g.152868957G>A | CA519182721 | NSDHL | c.963G>A (p.Gln321=) c.1011G>A (p.Gln337=) | |
| X | g.152868957G>C | CA415287394 | NSDHL | c.963G>C (p.Gln321His) c.1011G>C (p.Gln337His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.152868957G= | CA2466154426 | NSDHL | c.963G= (p.Gln321=) c.1011G= (p.Gln337=) | |
| X | g.152868957G>T | CA415287395 | NSDHL | c.963G>T (p.Gln321His) c.1011G>T (p.Gln337His) | |
| X | g.152868958C>A | CA415287398 | NSDHL | c.964C>A (p.Pro322Thr) c.1012C>A (p.Pro338Thr) | |
| X | g.152868958C>G | CA415287396 | NSDHL | c.964C>G (p.Pro322Ala) c.1012C>G (p.Pro338Ala) | |
| X | g.152868958C>T | CA415287397 | NSDHL | c.964C>T (p.Pro322Ser) c.1012C>T (p.Pro338Ser) | gnomAD v4 |
| X | g.152868959C>A | CA415287399 | NSDHL | c.965C>A (p.Pro322His) c.1013C>A (p.Pro338His) | |
| X | g.152868959C= | CA2466154427 | NSDHL | c.965C= (p.Pro322=) c.1013C= (p.Pro338=) | |
| X | g.152868959C>G | CA337613783 | NSDHL | c.965C>G (p.Pro322Arg) c.1013C>G (p.Pro338Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152868959C>T | CA415287400 | NSDHL | c.965C>T (p.Pro322Leu) c.1013C>T (p.Pro338Leu) | |
| X | g.152868960C>A | CA519182725 | NSDHL | c.966C>A (p.Pro322=) c.1014C>A (p.Pro338=) | |
| X | g.152868960C= | CA2466154428 | NSDHL | c.966C= (p.Pro322=) c.1014C= (p.Pro338=) | |
| X | g.152868960C>G | CA519182726 | NSDHL | c.966C>G (p.Pro322=) c.1014C>G (p.Pro338=) | |
| X | g.152868960C>T | CA10544885 | NSDHL | c.966C>T (p.Pro322=) c.1014C>T (p.Pro338=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152868961A>C | CA415287401 | NSDHL | c.967A>C (p.Thr323Pro) c.1015A>C (p.Thr339Pro) | |
| X | g.152868961A>G | CA415287402 | NSDHL | c.967A>G (p.Thr323Ala) c.1015A>G (p.Thr339Ala) | |
| X | g.152868961A>T | CA415287403 | NSDHL | c.967A>T (p.Thr323Ser) c.1015A>T (p.Thr339Ser) | |
| X | g.152868962C>A | CA415287404 | NSDHL | c.968C>A (p.Thr323Asn) c.1016C>A (p.Thr339Asn) | |
| X | g.152868962C>G | CA415287405 | NSDHL | c.968C>G (p.Thr323Ser) c.1016C>G (p.Thr339Ser) | |
| X | g.152868962C>T | CA415287406 | NSDHL | c.968C>T (p.Thr323Ile) c.1016C>T (p.Thr339Ile) | |
| X | g.152868963C>A | CA519182731 | NSDHL | c.969C>A (p.Thr323=) c.1017C>A (p.Thr339=) | |
| X | g.152868963C= | CA2466154429 | NSDHL | c.969C= (p.Thr323=) c.1017C= (p.Thr339=) | |
| X | g.152868963C>G | CA519182732 | NSDHL | c.969C>G (p.Thr323=) c.1017C>G (p.Thr339=) | |
| X | g.152868963C>T | CA519182733 | NSDHL | c.969C>T (p.Thr323=) c.1017C>T (p.Thr339=) | dbSNP |
| X | g.152868964T>A | CA415287407 | NSDHL | c.970T>A (p.Phe324Ile) c.1018T>A (p.Phe340Ile) | |
| X | g.152868964T>C | CA415287408 | NSDHL | c.970T>C (p.Phe324Leu) c.1018T>C (p.Phe340Leu) | |
| X | g.152868964T>G | CA415287409 | NSDHL | c.970T>G (p.Phe324Val) c.1018T>G (p.Phe340Val) | |
| X | g.152868965T>A | CA415287412 | NSDHL | c.971T>A (p.Phe324Tyr) c.1019T>A (p.Phe340Tyr) | |
| X | g.152868965T>C | CA415287410 | NSDHL | c.971T>C (p.Phe324Ser) c.1019T>C (p.Phe340Ser) | |
| X | g.152868965T>G | CA415287411 | NSDHL | c.971T>G (p.Phe324Cys) c.1019T>G (p.Phe340Cys) | |
| X | g.152868966C>A | CA415287413 | NSDHL | c.972C>A (p.Phe324Leu) c.1020C>A (p.Phe340Leu) | gnomAD v4 |
| X | g.152868966C>G | CA415287414 | NSDHL | c.972C>G (p.Phe324Leu) c.1020C>G (p.Phe340Leu) | |
| X | g.152868966C>T | CA519182735 | NSDHL | c.972C>T (p.Phe324=) c.1020C>T (p.Phe340=) | |
| X | g.152868967A>C | CA415287415 | NSDHL | c.973A>C (p.Thr325Pro) c.1021A>C (p.Thr341Pro) | |
| X | g.152868967A>G | CA415287416 | NSDHL | c.973A>G (p.Thr325Ala) c.1021A>G (p.Thr341Ala) | ClinVar |
| X | g.152868967A>T | CA415287417 | NSDHL | c.973A>T (p.Thr325Ser) c.1021A>T (p.Thr341Ser) | |
| X | g.152868968C>A | CA415287418 | NSDHL | c.974C>A (p.Thr325Lys) c.1022C>A (p.Thr341Lys) | |
| X | g.152868968C>G | CA415287419 | NSDHL | c.974C>G (p.Thr325Arg) c.1022C>G (p.Thr341Arg) | |
| X | g.152868968C>T | CA415287420 | NSDHL | c.974C>T (p.Thr325Ile) c.1022C>T (p.Thr341Ile) | |
| X | g.152868969A>C | CA519182740 | NSDHL | c.975A>C (p.Thr325=) c.1023A>C (p.Thr341=) | |
| X | g.152868969A>G | CA519182739 | NSDHL | c.975A>G (p.Thr325=) c.1023A>G (p.Thr341=) | |
| X | g.152868969A>T | CA519182738 | NSDHL | c.975A>T (p.Thr325=) c.1023A>T (p.Thr341=) | |
| X | g.152868970C>A | CA415287421 | NSDHL | c.976C>A (p.Pro326Thr) c.1024C>A (p.Pro342Thr) | |
| X | g.152868970C= | CA2466154430 | NSDHL | c.976C= (p.Pro326=) c.1024C= (p.Pro342=) | |
| X | g.152868970C>G | CA415287422 | NSDHL | c.976C>G (p.Pro326Ala) c.1024C>G (p.Pro342Ala) | ClinVar |
| X | g.152868970C>T | CA415287423 | NSDHL | c.976C>T (p.Pro326Ser) c.1024C>T (p.Pro342Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.152868971C>A | CA415287424 | NSDHL | c.977C>A (p.Pro326His) c.1025C>A (p.Pro342His) | gnomAD v4 |
| X | g.152868971C>G | CA415287426 | NSDHL | c.977C>G (p.Pro326Arg) c.1025C>G (p.Pro342Arg) | |
| X | g.152868971C>T | CA415287425 | NSDHL | c.977C>T (p.Pro326Leu) c.1025C>T (p.Pro342Leu) | gnomAD v4 |
| X | g.152868972C>A | CA519182741 | NSDHL | c.978C>A (p.Pro326=) c.1026C>A (p.Pro342=) | |
| X | g.152868972C>G | CA519182743 | NSDHL | c.978C>G (p.Pro326=) c.1026C>G (p.Pro342=) | gnomAD v4 |
| X | g.152868972C>T | CA519182742 | NSDHL | c.978C>T (p.Pro326=) c.1026C>T (p.Pro342=) | gnomAD v4 |
| X | g.152868973A= | CA2466154431 | NSDHL | c.979A= (p.Met327=) c.1027A= (p.Met343=) | |
| X | g.152868973A>C | CA415287427 | NSDHL | c.979A>C (p.Met327Leu) c.1027A>C (p.Met343Leu) | |
| X | g.152868973A>G | CA415287429 | NSDHL | c.979A>G (p.Met327Val) c.1027A>G (p.Met343Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.152868973A>T | CA415287428 | NSDHL | c.979A>T (p.Met327Leu) c.1027A>T (p.Met343Leu) | |
| X | g.152868974T>A | CA415287430 | NSDHL | c.980T>A (p.Met327Lys) c.1028T>A (p.Met343Lys) | |
| X | g.152868974T>C | CA415287431 | NSDHL | c.980T>C (p.Met327Thr) c.1028T>C (p.Met343Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.152868974T>G | CA415287432 | NSDHL | c.980T>G (p.Met327Arg) c.1028T>G (p.Met343Arg) | |
| X | g.152868974T= | CA2466154432 | NSDHL | c.980T= (p.Met327=) c.1028T= (p.Met343=) | |
| X | g.152868975G>A | CA415287433 | NSDHL | c.981G>A (p.Met327Ile) c.1029G>A (p.Met343Ile) | ClinVar gnomAD v4 |
| X | g.152868975G>C | CA415287434 | NSDHL | c.981G>C (p.Met327Ile) c.1029G>C (p.Met343Ile) | |
| X | g.152868975G>T | CA415287435 | NSDHL | c.981G>T (p.Met327Ile) c.1029G>T (p.Met343Ile) | |
| X | g.152868976C>A | CA519182746 | NSDHL | c.982C>A (p.Arg328=) c.1030C>A (p.Arg344=) | |
| X | g.152868976C>G | CA415287436 | NSDHL | c.982C>G (p.Arg328Gly) c.1030C>G (p.Arg344Gly) | |
| X | g.152868976C>T | CA415287437 | NSDHL | c.982C>T (p.Arg328Trp) c.1030C>T (p.Arg344Trp) | gnomAD v4 |
| X | g.152868977G>A | CA415287438 | NSDHL | c.983G>A (p.Arg328Gln) c.1031G>A (p.Arg344Gln) | gnomAD v4 |
| X | g.152868977G>C | CA415287439 | NSDHL | c.983G>C (p.Arg328Pro) c.1031G>C (p.Arg344Pro) | |
| X | g.152868977G>T | CA415287440 | NSDHL | c.983G>T (p.Arg328Leu) c.1031G>T (p.Arg344Leu) | |
| X | g.152868978G>A | CA519182751 | NSDHL | c.984G>A (p.Arg328=) c.1032G>A (p.Arg344=) | |
| X | g.152868978G>C | CA519182750 | NSDHL | c.984G>C (p.Arg328=) c.1032G>C (p.Arg344=) | |
| X | g.152868978G>T | CA519182752 | NSDHL | c.984G>T (p.Arg328=) c.1032G>T (p.Arg344=) | |
| X | g.152868979G>A | CA415287443 | NSDHL | c.985G>A (p.Val329Ile) c.1033G>A (p.Val345Ile) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.152868979G>C | CA415287441 | NSDHL | c.985G>C (p.Val329Leu) c.1033G>C (p.Val345Leu) | |
| X | g.152868979G= | CA2466154433 | NSDHL | c.985G= (p.Val329=) c.1033G= (p.Val345=) | |
| X | g.152868979G>T | CA415287442 | NSDHL | c.985G>T (p.Val329Phe) c.1033G>T (p.Val345Phe) | |
| X | g.152868980T>A | CA415287444 | NSDHL | c.986T>A (p.Val329Asp) c.1034T>A (p.Val345Asp) | |
| X | g.152868980T>C | CA415287445 | NSDHL | c.986T>C (p.Val329Ala) c.1034T>C (p.Val345Ala) | |
| X | g.152868980T>G | CA415287446 | NSDHL | c.986T>G (p.Val329Gly) c.1034T>G (p.Val345Gly) | |
| X | g.152868981C>A | CA519182754 | NSDHL | c.987C>A (p.Val329=) c.1035C>A (p.Val345=) | |
| X | g.152868981C= | CA2466154434 | NSDHL | c.987C= (p.Val329=) c.1035C= (p.Val345=) | |
| X | g.152868981C>G | CA519182755 | NSDHL | c.987C>G (p.Val329=) c.1035C>G (p.Val345=) | |
| X | g.152868981C>T | CA10544886 | NSDHL | c.987C>T (p.Val329=) c.1035C>T (p.Val345=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152868982G>A | CA415287447 | NSDHL | c.988G>A (p.Ala330Thr) c.1036G>A (p.Ala346Thr) | |
| X | g.152868982G>C | CA415287448 | NSDHL | c.988G>C (p.Ala330Pro) c.1036G>C (p.Ala346Pro) | |
| X | g.152868982G= | CA2466154435 | NSDHL | c.988G= (p.Ala330=) c.1036G= (p.Ala346=) | |
| X | g.152868982G>T | CA415287449 | NSDHL | c.988G>T (p.Ala330Ser) c.1036G>T (p.Ala346Ser) | dbSNP |
| X | g.152868983C>A | CA415287450 | NSDHL | c.989C>A (p.Ala330Glu) c.1037C>A (p.Ala346Glu) | |
| X | g.152868983C>G | CA415287451 | NSDHL | c.989C>G (p.Ala330Gly) c.1037C>G (p.Ala346Gly) | |
| X | g.152868983C>T | CA415287452 | NSDHL | c.989C>T (p.Ala330Val) c.1037C>T (p.Ala346Val) | |
| X | g.152868984A= | CA2466154436 | NSDHL | c.990A= (p.Ala330=) c.1038A= (p.Ala346=) | |
| X | g.152868984A>C | CA519182760 | NSDHL | c.990A>C (p.Ala330=) c.1038A>C (p.Ala346=) | |
| X | g.152868984A>G | CA337613790 | NSDHL | c.990A>G (p.Ala330=) c.1038A>G (p.Ala346=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152868984A>T | CA519182759 | NSDHL | c.990A>T (p.Ala330=) c.1038A>T (p.Ala346=) | |
| X | g.152868985C>A | CA415287454 | NSDHL | c.991C>A (p.Leu331Met) c.1039C>A (p.Leu347Met) | |
| X | g.152868985C= | CA2466154437 | NSDHL | c.991C= (p.Leu331=) c.1039C= (p.Leu347=) | |
| X | g.152868985C>G | CA415287453 | NSDHL | c.991C>G (p.Leu331Val) c.1039C>G (p.Leu347Val) | |
| X | g.152868985C>T | CA10544887 | NSDHL | c.991C>T (p.Leu331=) c.1039C>T (p.Leu347=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152868986T>A | CA415287455 | NSDHL | c.992T>A (p.Leu331Gln) c.1040T>A (p.Leu347Gln) | |
| X | g.152868986T>C | CA415287456 | NSDHL | c.992T>C (p.Leu331Pro) c.1040T>C (p.Leu347Pro) | |
| X | g.152868986T>G | CA415287457 | NSDHL | c.992T>G (p.Leu331Arg) c.1040T>G (p.Leu347Arg) | |
| X | g.152868987G>A | CA519182765 | NSDHL | c.993G>A (p.Leu331=) c.1041G>A (p.Leu347=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152868987G>C | CA519182766 | NSDHL | c.993G>C (p.Leu331=) c.1041G>C (p.Leu347=) | |
| X | g.152868987G= | CA2466154438 | NSDHL | c.993G= (p.Leu331=) c.1041G= (p.Leu347=) | |
| X | g.152868987G>T | CA519182767 | NSDHL | c.993G>T (p.Leu331=) c.1041G>T (p.Leu347=) | |
| X | g.152868988G>A | CA415287458 | NSDHL | c.994G>A (p.Ala332Thr) c.1042G>A (p.Ala348Thr) | |
| X | g.152868988G>C | CA415287459 | NSDHL | c.994G>C (p.Ala332Pro) c.1042G>C (p.Ala348Pro) | |
| X | g.152868988G>T | CA415287460 | NSDHL | c.994G>T (p.Ala332Ser) c.1042G>T (p.Ala348Ser) | |
| X | g.152868989C>A | CA415287461 | NSDHL | c.995C>A (p.Ala332Asp) c.1043C>A (p.Ala348Asp) | |
| X | g.152868989C>G | CA415287462 | NSDHL | c.995C>G (p.Ala332Gly) c.1043C>G (p.Ala348Gly) | gnomAD v4 COSMIC |
| X | g.152868989C>T | CA415287463 | NSDHL | c.995C>T (p.Ala332Val) c.1043C>T (p.Ala348Val) | |
| X | g.152868990T>A | CA519182768 | NSDHL | c.996T>A (p.Ala332=) c.1044T>A (p.Ala348=) | |
| X | g.152868990T>C | CA519182769 | NSDHL | c.996T>C (p.Ala332=) c.1044T>C (p.Ala348=) | COSMIC |
| X | g.152868990T>G | CA519182771 | NSDHL | c.996T>G (p.Ala332=) c.1044T>G (p.Ala348=) | |
| X | g.152868991G>A | CA10544888 | NSDHL | c.997G>A (p.Gly333Ser) c.1045G>A (p.Gly349Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152868991G>C | CA415287465 | NSDHL | c.997G>C (p.Gly333Arg) c.1045G>C (p.Gly349Arg) | |
| X | g.152868991G= | CA2466154439 | NSDHL | c.997G= (p.Gly333=) c.1045G= (p.Gly349=) | |
| X | g.152868991G>T | CA415287464 | NSDHL | c.997G>T (p.Gly333Cys) c.1045G>T (p.Gly349Cys) | |
| X | g.152868992G>A | CA415287466 | NSDHL | c.998G>A (p.Gly333Asp) c.1046G>A (p.Gly349Asp) | |
| X | g.152868992G>C | CA415287467 | NSDHL | c.998G>C (p.Gly333Ala) c.1046G>C (p.Gly349Ala) | |
| X | g.152868992G>T | CA415287468 | NSDHL | c.998G>T (p.Gly333Val) c.1046G>T (p.Gly349Val) | |
| X | g.152868993C>A | CA519182778 | NSDHL | c.999C>A (p.Gly333=) c.1047C>A (p.Gly349=) | |
| X | g.152868993C>G | CA519182779 | NSDHL | c.999C>G (p.Gly333=) c.1047C>G (p.Gly349=) | |
| X | g.152868993C>T | CA519182780 | NSDHL | c.999C>T (p.Gly333=) c.1047C>T (p.Gly349=) | |
| X | g.152868994A>C | CA415287469 | NSDHL | c.1000A>C (p.Thr334Pro) c.1048A>C (p.Thr350Pro) | |
| X | g.152868994A>G | CA415287470 | NSDHL | c.1000A>G (p.Thr334Ala) c.1048A>G (p.Thr350Ala) | |
| X | g.152868994A>T | CA415287471 | NSDHL | c.1000A>T (p.Thr334Ser) c.1048A>T (p.Thr350Ser) | |
| X | g.152868995C>A | CA415287472 | NSDHL | c.1001C>A (p.Thr334Lys) c.1049C>A (p.Thr350Lys) | |
| X | g.152868995C= | CA2466154440 | NSDHL | c.1001C= (p.Thr334=) c.1049C= (p.Thr350=) | |
| X | g.152868995C>G | CA415287473 | NSDHL | c.1001C>G (p.Thr334Arg) c.1049C>G (p.Thr350Arg) | dbSNP gnomAD v4 |
| X | g.152868995C>T | CA415287474 | NSDHL | c.1001C>T (p.Thr334Ile) c.1049C>T (p.Thr350Ile) | dbSNP |
| X | g.152868996A>C | CA519182785 | NSDHL | c.1002A>C (p.Thr334=) c.1050A>C (p.Thr350=) | |
| X | g.152868996A>G | CA519182787 | NSDHL | c.1002A>G (p.Thr334=) c.1050A>G (p.Thr350=) | gnomAD v4 |
| X | g.152868996A>T | CA519182789 | NSDHL | c.1002A>T (p.Thr334=) c.1050A>T (p.Thr350=) | |
| X | g.152868997T>A | CA415287475 | NSDHL | c.1003T>A (p.Phe335Ile) c.1051T>A (p.Phe351Ile) | |
| X | g.152868997T>C | CA415287476 | NSDHL | c.1003T>C (p.Phe335Leu) c.1051T>C (p.Phe351Leu) | |
| X | g.152868997T>G | CA415287477 | NSDHL | c.1003T>G (p.Phe335Val) c.1051T>G (p.Phe351Val) | |
| X | g.152868998T>A | CA415287479 | NSDHL | c.1004T>A (p.Phe335Tyr) c.1052T>A (p.Phe351Tyr) | |
| X | g.152868998T>C | CA415287480 | NSDHL | c.1004T>C (p.Phe335Ser) c.1052T>C (p.Phe351Ser) | |
| X | g.152868998T>G | CA415287478 | NSDHL | c.1004T>G (p.Phe335Cys) c.1052T>G (p.Phe351Cys) | |
| X | g.152868999C>A | CA415287482 | NSDHL | c.1005C>A (p.Phe335Leu) c.1053C>A (p.Phe351Leu) | |
| X | g.152868999C= | CA2466154441 | NSDHL | c.1005C= (p.Phe335=) c.1053C= (p.Phe351=) | |
| X | g.152868999C>G | CA415287481 | NSDHL | c.1005C>G (p.Phe335Leu) c.1053C>G (p.Phe351Leu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.152868999C>T | CA519182791 | NSDHL | c.1005C>T (p.Phe335=) c.1053C>T (p.Phe351=) | |
| X | g.152869000C>A | CA415287484 | NSDHL | c.1006C>A (p.His336Asn) c.1054C>A (p.His352Asn) | |
| X | g.152869000C>G | CA415287483 | NSDHL | c.1006C>G (p.His336Asp) c.1054C>G (p.His352Asp) | |
| X | g.152869000C>T | CA415287485 | NSDHL | c.1006C>T (p.His336Tyr) c.1054C>T (p.His352Tyr) | COSMIC |
| X | g.152869001A>C | CA415287486 | NSDHL | c.1007A>C (p.His336Pro) c.1055A>C (p.His352Pro) | |
| X | g.152869001A>G | CA415287487 | NSDHL | c.1007A>G (p.His336Arg) c.1055A>G (p.His352Arg) | |
| X | g.152869001A>T | CA415287488 | NSDHL | c.1007A>T (p.His336Leu) c.1055A>T (p.His352Leu) | |
| X | g.152869002C>A | CA415287489 | NSDHL | c.1008C>A (p.His336Gln) c.1056C>A (p.His352Gln) | |
| X | g.152869002C= | CA2466154442 | NSDHL | c.1008C= (p.His336=) c.1056C= (p.His352=) | |
| X | g.152869002C>G | CA415287490 | NSDHL | c.1008C>G (p.His336Gln) c.1056C>G (p.His352Gln) | |
| X | g.152869002C>T | CA519182792 | NSDHL | c.1008C>T (p.His336=) c.1056C>T (p.His352=) | dbSNP |
| X | g.152869003T>A | CA415287491 | NSDHL | c.1009T>A (p.Tyr337Asn) c.1057T>A (p.Tyr353Asn) | |
| X | g.152869003T>C | CA415287492 | NSDHL | c.1009T>C (p.Tyr337His) c.1057T>C (p.Tyr353His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152869003T>G | CA415287493 | NSDHL | c.1009T>G (p.Tyr337Asp) c.1057T>G (p.Tyr353Asp) | |
| X | g.152869003T= | CA2466154443 | NSDHL | c.1009T= (p.Tyr337=) c.1057T= (p.Tyr353=) | |
| X | g.152869004A= | CA2466154444 | NSDHL | c.1010A= (p.Tyr337=) c.1058A= (p.Tyr353=) | |
| X | g.152869004A>C | CA415287494 | NSDHL | c.1010A>C (p.Tyr337Ser) c.1058A>C (p.Tyr353Ser) | |
| X | g.152869004A>G | CA415287495 | NSDHL | c.1010A>G (p.Tyr337Cys) c.1058A>G (p.Tyr353Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152869004A>T | CA415287496 | NSDHL | c.1010A>T (p.Tyr337Phe) c.1058A>T (p.Tyr353Phe) | gnomAD v4 |
| X | g.152869005C>A | CA415287497 | NSDHL | c.1011C>A (p.Tyr337Ter) c.1059C>A (p.Tyr353Ter) | |
| X | g.152869005C>G | CA415287498 | NSDHL | c.1011C>G (p.Tyr337Ter) c.1059C>G (p.Tyr353Ter) | |
| X | g.152869005C>T | CA519182794 | NSDHL | c.1011C>T (p.Tyr337=) c.1059C>T (p.Tyr353=) | |
| X | g.152869006T>A | CA415287501 | NSDHL | c.1012T>A (p.Tyr338Asn) c.1060T>A (p.Tyr354Asn) | |
| X | g.152869006T>C | CA415287499 | NSDHL | c.1012T>C (p.Tyr338His) c.1060T>C (p.Tyr354His) | |
| X | g.152869006T>G | CA415287500 | NSDHL | c.1012T>G (p.Tyr338Asp) c.1060T>G (p.Tyr354Asp) | |
| X | g.152869007A>C | CA415287502 | NSDHL | c.1013A>C (p.Tyr338Ser) c.1061A>C (p.Tyr354Ser) | |
| X | g.152869007A>G | CA415287503 | NSDHL | c.1013A>G (p.Tyr338Cys) c.1061A>G (p.Tyr354Cys) | |
| X | g.152869007A>T | CA415287504 | NSDHL | c.1013A>T (p.Tyr338Phe) c.1061A>T (p.Tyr354Phe) |