| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.101543372T>A | CA371643301 | GRHL2 | c.152T>A (p.Met51Lys) c.104T>A (p.Met35Lys) n.480T>A | |
| 8 | g.101543372T>C | CA371643299 | GRHL2 | c.152T>C (p.Met51Thr) c.104T>C (p.Met35Thr) n.480T>C | |
| 8 | g.101543372T>G | CA371643300 | GRHL2 | c.152T>G (p.Met51Arg) c.104T>G (p.Met35Arg) n.480T>G | |
| 8 | g.101543373G>A | CA371643302 | GRHL2 | c.153G>A (p.Met51Ile) c.105G>A (p.Met35Ile) n.481G>A | gnomAD v4 |
| 8 | g.101543373G>C | CA371643303 | GRHL2 | c.153G>C (p.Met51Ile) c.105G>C (p.Met35Ile) n.481G>C | |
| 8 | g.101543373G>T | CA371643304 | GRHL2 | c.153G>T (p.Met51Ile) c.105G>T (p.Met35Ile) n.481G>T | |
| 8 | g.101543374A>C | CA371643307 | GRHL2 | c.154A>C (p.Met52Leu) c.106A>C (p.Met36Leu) n.482A>C | gnomAD v4 |
| 8 | g.101543374A>G | CA371643306 | GRHL2 | c.154A>G (p.Met52Val) c.106A>G (p.Met36Val) n.482A>G | |
| 8 | g.101543374A>T | CA371643305 | GRHL2 | c.154A>T (p.Met52Leu) c.106A>T (p.Met36Leu) n.482A>T | |
| 8 | g.101543375T>A | CA371643308 | GRHL2 | c.155T>A (p.Met52Lys) c.107T>A (p.Met36Lys) n.483T>A | |
| 8 | g.101543375T>C | CA371643309 | GRHL2 | c.155T>C (p.Met52Thr) c.107T>C (p.Met36Thr) n.483T>C | |
| 8 | g.101543375T>G | CA371643310 | GRHL2 | c.155T>G (p.Met52Arg) c.107T>G (p.Met36Arg) n.483T>G | gnomAD v4 |
| 8 | g.101543376G>A | CA371643311 | GRHL2 | c.156G>A (p.Met52Ile) c.108G>A (p.Met36Ile) n.484G>A | |
| 8 | g.101543376G>C | CA371643312 | GRHL2 | c.156G>C (p.Met52Ile) c.108G>C (p.Met36Ile) n.484G>C | |
| 8 | g.101543376G>T | CA371643313 | GRHL2 | c.156G>T (p.Met52Ile) c.108G>T (p.Met36Ile) n.484G>T | |
| 8 | g.101543377A>C | CA371643314 | GRHL2 | c.157A>C (p.Ser53Arg) c.109A>C (p.Ser37Arg) n.485A>C | |
| 8 | g.101543377A>G | CA371643316 | GRHL2 | c.157A>G (p.Ser53Gly) c.109A>G (p.Ser37Gly) n.485A>G | |
| 8 | g.101543377A>T | CA371643315 | GRHL2 | c.157A>T (p.Ser53Cys) c.109A>T (p.Ser37Cys) n.485A>T | |
| 8 | g.101543378G>A | CA371643317 | GRHL2 | c.158G>A (p.Ser53Asn) c.110G>A (p.Ser37Asn) n.486G>A | |
| 8 | g.101543378G>C | CA371643318 | GRHL2 | c.158G>C (p.Ser53Thr) c.110G>C (p.Ser37Thr) n.486G>C | |
| 8 | g.101543378G>T | CA371643319 | GRHL2 | c.158G>T (p.Ser53Ile) c.110G>T (p.Ser37Ile) n.486G>T | |
| 8 | g.101543379C>A | CA371643320 | GRHL2 | c.159C>A (p.Ser53Arg) c.111C>A (p.Ser37Arg) n.487C>A | |
| 8 | g.101543379C= | CA1806376424 | GRHL2 | c.159C= (p.Ser53=) c.111C= (p.Ser37=) n.487C= | |
| 8 | g.101543379C>G | CA371643321 | GRHL2 | c.159C>G (p.Ser53Arg) c.111C>G (p.Ser37Arg) n.487C>G | |
| 8 | g.101543379C>T | CA462234195 | GRHL2 | c.159C>T (p.Ser53=) c.111C>T (p.Ser37=) n.487C>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.101543380A>C | CA371643322 | GRHL2 | c.160A>C (p.Ile54Leu) c.112A>C (p.Ile38Leu) n.488A>C | |
| 8 | g.101543380A>G | CA371643323 | GRHL2 | c.160A>G (p.Ile54Val) c.112A>G (p.Ile38Val) n.488A>G | |
| 8 | g.101543380A>T | CA371643324 | GRHL2 | c.160A>T (p.Ile54Phe) c.112A>T (p.Ile38Phe) n.488A>T | |
| 8 | g.101543381T>A | CA371643325 | GRHL2 | c.161T>A (p.Ile54Asn) c.113T>A (p.Ile38Asn) n.489T>A | |
| 8 | g.101543381T>C | CA371643326 | GRHL2 | c.161T>C (p.Ile54Thr) c.113T>C (p.Ile38Thr) n.489T>C | |
| 8 | g.101543381T>G | CA371643327 | GRHL2 | c.161T>G (p.Ile54Ser) c.113T>G (p.Ile38Ser) n.489T>G | |
| 8 | g.101543382T>A | CA462234200 | GRHL2 | c.162T>A (p.Ile54=) c.114T>A (p.Ile38=) n.490T>A | |
| 8 | g.101543382T>C | CA462234202 | GRHL2 | c.162T>C (p.Ile54=) c.114T>C (p.Ile38=) n.490T>C | |
| 8 | g.101543382T>G | CA371643328 | GRHL2 | c.162T>G (p.Ile54Met) c.114T>G (p.Ile38Met) n.490T>G | |
| 8 | g.101543383A>C | CA371643330 | GRHL2 | c.163A>C (p.Asn55His) c.115A>C (p.Asn39His) n.491A>C | |
| 8 | g.101543383A>G | CA371643331 | GRHL2 | c.163A>G (p.Asn55Asp) c.115A>G (p.Asn39Asp) n.491A>G | |
| 8 | g.101543383A>T | CA371643329 | GRHL2 | c.163A>T (p.Asn55Tyr) c.115A>T (p.Asn39Tyr) n.491A>T | |
| 8 | g.101543384A>C | CA371643332 | GRHL2 | c.164A>C (p.Asn55Thr) c.116A>C (p.Asn39Thr) n.492A>C | |
| 8 | g.101543384A>G | CA371643333 | GRHL2 | c.164A>G (p.Asn55Ser) c.116A>G (p.Asn39Ser) n.492A>G | |
| 8 | g.101543384A>T | CA371643334 | GRHL2 | c.164A>T (p.Asn55Ile) c.116A>T (p.Asn39Ile) n.492A>T | |
| 8 | g.101543385T>A | CA371643335 | GRHL2 | c.165T>A (p.Asn55Lys) c.117T>A (p.Asn39Lys) n.493T>A | |
| 8 | g.101543385T>C | CA462234210 | GRHL2 | c.165T>C (p.Asn55=) c.117T>C (p.Asn39=) n.493T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.101543385T>G | CA371643336 | GRHL2 | c.165T>G (p.Asn55Lys) c.117T>G (p.Asn39Lys) n.493T>G | |
| 8 | g.101543385T= | CA1806376425 | GRHL2 | c.165T= (p.Asn55=) c.117T= (p.Asn39=) n.493T= | |
| 8 | g.101543386G>A | CA371643339 | GRHL2 | c.166G>A (p.Gly56Ser) c.118G>A (p.Gly40Ser) n.494G>A | |
| 8 | g.101543386G>C | CA371643338 | GRHL2 | c.166G>C (p.Gly56Arg) c.118G>C (p.Gly40Arg) n.494G>C | |
| 8 | g.101543386G>T | CA371643337 | GRHL2 | c.166G>T (p.Gly56Cys) c.118G>T (p.Gly40Cys) n.494G>T | |
| 8 | g.101543387G>A | CA371643340 | GRHL2 | c.167G>A (p.Gly56Asp) c.119G>A (p.Gly40Asp) n.495G>A | |
| 8 | g.101543387G>C | CA371643341 | GRHL2 | c.167G>C (p.Gly56Ala) c.119G>C (p.Gly40Ala) n.495G>C | |
| 8 | g.101543387G>T | CA371643342 | GRHL2 | c.167G>T (p.Gly56Val) c.119G>T (p.Gly40Val) n.495G>T | |
| 8 | g.101543388T>A | CA462234220 | GRHL2 | c.168T>A (p.Gly56=) c.120T>A (p.Gly40=) n.496T>A | |
| 8 | g.101543388T>C | CA462234219 | GRHL2 | c.168T>C (p.Gly56=) c.120T>C (p.Gly40=) n.496T>C | |
| 8 | g.101543388T>G | CA462234217 | GRHL2 | c.168T>G (p.Gly56=) c.120T>G (p.Gly40=) n.496T>G | |
| 8 | g.101543389G>A | CA371643343 | GRHL2 | c.169G>A (p.Asp57Asn) c.121G>A (p.Asp41Asn) n.497G>A | |
| 8 | g.101543389G>C | CA371643344 | GRHL2 | c.169G>C (p.Asp57His) c.121G>C (p.Asp41His) n.497G>C | |
| 8 | g.101543389G>T | CA371643345 | GRHL2 | c.169G>T (p.Asp57Tyr) c.121G>T (p.Asp41Tyr) n.497G>T | |
| 8 | g.101543390A>C | CA371643348 | GRHL2 | c.170A>C (p.Asp57Ala) c.122A>C (p.Asp41Ala) n.498A>C | |
| 8 | g.101543390A>G | CA371643346 | GRHL2 | c.170A>G (p.Asp57Gly) c.122A>G (p.Asp41Gly) n.498A>G | |
| 8 | g.101543390A>T | CA371643347 | GRHL2 | c.170A>T (p.Asp57Val) c.122A>T (p.Asp41Val) n.498A>T | |
| 8 | g.101543391T>A | CA371643349 | GRHL2 | c.171T>A (p.Asp57Glu) c.123T>A (p.Asp41Glu) n.499T>A | |
| 8 | g.101543391T>C | CA462234227 | GRHL2 | c.171T>C (p.Asp57=) c.123T>C (p.Asp41=) n.499T>C | |
| 8 | g.101543391T>G | CA371643350 | GRHL2 | c.171T>G (p.Asp57Glu) c.123T>G (p.Asp41Glu) n.499T>G | |
| 8 | g.101543392G>A | CA371643351 | GRHL2 | c.172G>A (p.Glu58Lys) c.124G>A (p.Glu42Lys) n.500G>A | |
| 8 | g.101543392G>C | CA371643352 | GRHL2 | c.172G>C (p.Glu58Gln) c.124G>C (p.Glu42Gln) n.500G>C | |
| 8 | g.101543392G>T | CA371643353 | GRHL2 | c.172G>T (p.Glu58Ter) c.124G>T (p.Glu42Ter) n.500G>T | |
| 8 | g.101543393A>C | CA371643354 | GRHL2 | c.173A>C (p.Glu58Ala) c.125A>C (p.Glu42Ala) n.501A>C | |
| 8 | g.101543393A>G | CA371643355 | GRHL2 | c.173A>G (p.Glu58Gly) c.125A>G (p.Glu42Gly) n.501A>G | |
| 8 | g.101543393A>T | CA371643356 | GRHL2 | c.173A>T (p.Glu58Val) c.125A>T (p.Glu42Val) n.501A>T | |
| 8 | g.101543394G>A | CA462234239 | GRHL2 | c.174G>A (p.Glu58=) c.126G>A (p.Glu42=) n.502G>A | |
| 8 | g.101543394G>C | CA371643357 | GRHL2 | c.174G>C (p.Glu58Asp) c.126G>C (p.Glu42Asp) n.502G>C | |
| 8 | g.101543394G>T | CA371643358 | GRHL2 | c.174G>T (p.Glu58Asp) c.126G>T (p.Glu42Asp) n.502G>T | |
| 8 | g.101543395G>A | CA371643359 | GRHL2 | c.175G>A (p.Asp59Asn) c.127G>A (p.Asp43Asn) n.503G>A | |
| 8 | g.101543395G>C | CA371643360 | GRHL2 | c.175G>C (p.Asp59His) c.127G>C (p.Asp43His) n.503G>C | |
| 8 | g.101543395G>T | CA371643361 | GRHL2 | c.175G>T (p.Asp59Tyr) c.127G>T (p.Asp43Tyr) n.503G>T | |
| 8 | g.101543396A>C | CA371643362 | GRHL2 | c.176A>C (p.Asp59Ala) c.128A>C (p.Asp43Ala) n.504A>C | |
| 8 | g.101543396A>G | CA371643364 | GRHL2 | c.176A>G (p.Asp59Gly) c.128A>G (p.Asp43Gly) n.504A>G | |
| 8 | g.101543396A>T | CA371643363 | GRHL2 | c.176A>T (p.Asp59Val) c.128A>T (p.Asp43Val) n.504A>T | |
| 8 | g.101543397C>A | CA371643365 | GRHL2 | c.177C>A (p.Asp59Glu) c.129C>A (p.Asp43Glu) n.505C>A | |
| 8 | g.101543397C= | CA1806376426 | GRHL2 | c.177C= (p.Asp59=) c.129C= (p.Asp43=) n.505C= | |
| 8 | g.101543397C>G | CA371643366 | GRHL2 | c.177C>G (p.Asp59Glu) c.129C>G (p.Asp43Glu) n.505C>G | |
| 8 | g.101543397C>T | CA462234249 | GRHL2 | c.177C>T (p.Asp59=) c.129C>T (p.Asp43=) n.505C>T | dbSNP |
| 8 | g.101543398A>C | CA371643367 | GRHL2 | c.178A>C (p.Ser60Arg) c.130A>C (p.Ser44Arg) n.506A>C | |
| 8 | g.101543398A>G | CA371643368 | GRHL2 | c.178A>G (p.Ser60Gly) c.130A>G (p.Ser44Gly) n.506A>G | |
| 8 | g.101543398A>T | CA371643369 | GRHL2 | c.178A>T (p.Ser60Cys) c.130A>T (p.Ser44Cys) n.506A>T | |
| 8 | g.101543399G>A | CA371643370 | GRHL2 | c.179G>A (p.Ser60Asn) c.131G>A (p.Ser44Asn) n.507G>A | |
| 8 | g.101543399G>C | CA371643371 | GRHL2 | c.179G>C (p.Ser60Thr) c.131G>C (p.Ser44Thr) n.507G>C | |
| 8 | g.101543399G>T | CA371643372 | GRHL2 | c.179G>T (p.Ser60Ile) c.131G>T (p.Ser44Ile) n.507G>T | |
| 8 | g.101543399_101543400insCAGCACTGTCCTCATCACCA | CA2830545480 | GRHL2 | c.179_180insCAGCACTGTCCTCATCACCA (p.Ala61SerfsTer29) c.131_132insCAGCACTGTCCTCATCACCA (p.Ala45SerfsTer29) n.507_508insCAGCACTGTCCTCATCACCA | |
| 8 | g.101543400T>A | CA371643373 | GRHL2 | c.180T>A (p.Ser60Arg) c.132T>A (p.Ser44Arg) n.508T>A | |
| 8 | g.101543400T>C | CA462234256 | GRHL2 | c.180T>C (p.Ser60=) c.132T>C (p.Ser44=) n.508T>C | |
| 8 | g.101543400T>G | CA371643374 | GRHL2 | c.180T>G (p.Ser60Arg) c.132T>G (p.Ser44Arg) n.508T>G | |
| 8 | g.101543401G>A | CA371643375 | GRHL2 | c.181G>A (p.Ala61Thr) c.133G>A (p.Ala45Thr) n.509G>A | dbSNP COSMIC |
| 8 | g.101543401G>C | CA371643376 | GRHL2 | c.181G>C (p.Ala61Pro) c.133G>C (p.Ala45Pro) n.509G>C | |
| 8 | g.101543401G= | CA1806376427 | GRHL2 | c.181G= (p.Ala61=) c.133G= (p.Ala45=) n.509G= | |
| 8 | g.101543401G>T | CA371643377 | GRHL2 | c.181G>T (p.Ala61Ser) c.133G>T (p.Ala45Ser) n.509G>T | |
| 8 | g.101543402C>A | CA371643378 | GRHL2 | c.182C>A (p.Ala61Asp) c.134C>A (p.Ala45Asp) n.510C>A | |
| 8 | g.101543402C>G | CA371643380 | GRHL2 | c.182C>G (p.Ala61Gly) c.134C>G (p.Ala45Gly) n.510C>G | |
| 8 | g.101543402C>T | CA371643379 | GRHL2 | c.182C>T (p.Ala61Val) c.134C>T (p.Ala45Val) n.510C>T | |
| 8 | g.101543403T>A | CA462234265 | GRHL2 | c.183T>A (p.Ala61=) c.135T>A (p.Ala45=) n.511T>A | |
| 8 | g.101543403T>C | CA182746659 | GRHL2 | c.183T>C (p.Ala61=) c.135T>C (p.Ala45=) n.511T>C | dbSNP |
| 8 | g.101543403T>G | CA4830220 | GRHL2 | c.183T>G (p.Ala61=) c.135T>G (p.Ala45=) n.511T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.101543403T= | CA1806376428 | GRHL2 | c.183T= (p.Ala61=) c.135T= (p.Ala45=) n.511T= | |
| 8 | g.101543404G>A | CA371643381 | GRHL2 | c.184G>A (p.Ala62Thr) c.136G>A (p.Ala46Thr) n.512G>A | |
| 8 | g.101543404G>C | CA371643382 | GRHL2 | c.184G>C (p.Ala62Pro) c.136G>C (p.Ala46Pro) n.512G>C | COSMIC |
| 8 | g.101543404G>T | CA371643383 | GRHL2 | c.184G>T (p.Ala62Ser) c.136G>T (p.Ala46Ser) n.512G>T | |
| 8 | g.101543405C>A | CA371643384 | GRHL2 | c.185C>A (p.Ala62Asp) c.137C>A (p.Ala46Asp) n.513C>A | |
| 8 | g.101543405C>G | CA371643385 | GRHL2 | c.185C>G (p.Ala62Gly) c.137C>G (p.Ala46Gly) n.513C>G | |
| 8 | g.101543405C>T | CA371643386 | GRHL2 | c.185C>T (p.Ala62Val) c.137C>T (p.Ala46Val) n.513C>T | |
| 8 | g.101543406T>A | CA462234271 | GRHL2 | c.186T>A (p.Ala62=) c.138T>A (p.Ala46=) n.514T>A | |
| 8 | g.101543406T>C | CA462234274 | GRHL2 | c.186T>C (p.Ala62=) c.138T>C (p.Ala46=) n.514T>C | |
| 8 | g.101543406T>G | CA462234273 | GRHL2 | c.186T>G (p.Ala62=) c.138T>G (p.Ala46=) n.514T>G | |
| 8 | g.101543407G>A | CA371643387 | GRHL2 | c.187G>A (p.Ala63Thr) c.139G>A (p.Ala47Thr) n.515G>A | |
| 8 | g.101543407G>C | CA371643388 | GRHL2 | c.187G>C (p.Ala63Pro) c.139G>C (p.Ala47Pro) n.515G>C | |
| 8 | g.101543407G>T | CA371643389 | GRHL2 | c.187G>T (p.Ala63Ser) c.139G>T (p.Ala47Ser) n.515G>T | |
| 8 | g.101543408C>A | CA371643392 | GRHL2 | c.188C>A (p.Ala63Asp) c.140C>A (p.Ala47Asp) n.516C>A | |
| 8 | g.101543408C>G | CA371643391 | GRHL2 | c.188C>G (p.Ala63Gly) c.140C>G (p.Ala47Gly) n.516C>G | |
| 8 | g.101543408C>T | CA371643390 | GRHL2 | c.188C>T (p.Ala63Val) c.140C>T (p.Ala47Val) n.516C>T | |
| 8 | g.101543409C>A | CA462234279 | GRHL2 | c.189C>A (p.Ala63=) c.141C>A (p.Ala47=) n.517C>A | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.101543409C= | CA1806376429 | GRHL2 | c.189C= (p.Ala63=) c.141C= (p.Ala47=) n.517C= | |
| 8 | g.101543409C>G | CA462234281 | GRHL2 | c.189C>G (p.Ala63=) c.141C>G (p.Ala47=) n.517C>G | |
| 8 | g.101543409C>T | CA462234282 | GRHL2 | c.189C>T (p.Ala63=) c.141C>T (p.Ala47=) n.517C>T | |
| 8 | g.101543410C>A | CA371643393 | GRHL2 | c.190C>A (p.Leu64Ile) c.142C>A (p.Leu48Ile) n.518C>A | |
| 8 | g.101543410C>G | CA371643395 | GRHL2 | c.190C>G (p.Leu64Val) c.142C>G (p.Leu48Val) n.518C>G | |
| 8 | g.101543410C>T | CA371643394 | GRHL2 | c.190C>T (p.Leu64Phe) c.142C>T (p.Leu48Phe) n.518C>T | |
| 8 | g.101543411T>A | CA371643396 | GRHL2 | c.191T>A (p.Leu64His) c.143T>A (p.Leu48His) n.519T>A | |
| 8 | g.101543411T>C | CA371643398 | GRHL2 | c.191T>C (p.Leu64Pro) c.143T>C (p.Leu48Pro) n.519T>C | |
| 8 | g.101543411T>G | CA371643397 | GRHL2 | c.191T>G (p.Leu64Arg) c.143T>G (p.Leu48Arg) n.519T>G | |
| 8 | g.101543412C>A | CA462234286 | GRHL2 | c.192C>A (p.Leu64=) c.144C>A (p.Leu48=) n.520C>A | |
| 8 | g.101543412C= | CA1806376430 | GRHL2 | c.192C= (p.Leu64=) c.144C= (p.Leu48=) n.520C= | |
| 8 | g.101543412C>G | CA462234287 | GRHL2 | c.192C>G (p.Leu64=) c.144C>G (p.Leu48=) n.520C>G | |
| 8 | g.101543412C>T | CA4830221 | GRHL2 | c.192C>T (p.Leu64=) c.144C>T (p.Leu48=) n.520C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.101543413G>A | CA371643401 | GRHL2 | c.193G>A (p.Gly65Ser) c.145G>A (p.Gly49Ser) n.521G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.101543413G>C | CA371643399 | GRHL2 | c.193G>C (p.Gly65Arg) c.145G>C (p.Gly49Arg) n.521G>C | |
| 8 | g.101543413G= | CA1806376431 | GRHL2 | c.193G= (p.Gly65=) c.145G= (p.Gly49=) n.521G= | |
| 8 | g.101543413G>T | CA371643400 | GRHL2 | c.193G>T (p.Gly65Cys) c.145G>T (p.Gly49Cys) n.521G>T | |
| 8 | g.101543414G>A | CA371643402 | GRHL2 | c.194G>A (p.Gly65Asp) c.146G>A (p.Gly49Asp) n.522G>A | COSMIC |
| 8 | g.101543414G>C | CA371643403 | GRHL2 | c.194G>C (p.Gly65Ala) c.146G>C (p.Gly49Ala) n.522G>C | |
| 8 | g.101543414G>T | CA371643404 | GRHL2 | c.194G>T (p.Gly65Val) c.146G>T (p.Gly49Val) n.522G>T | |
| 8 | g.101543415C>A | CA462234299 | GRHL2 | c.195C>A (p.Gly65=) c.147C>A (p.Gly49=) n.523C>A | |
| 8 | g.101543415C= | CA1806376432 | GRHL2 | c.195C= (p.Gly65=) c.147C= (p.Gly49=) n.523C= | |
| 8 | g.101543415C>G | CA462234300 | GRHL2 | c.195C>G (p.Gly65=) c.147C>G (p.Gly49=) n.523C>G | |
| 8 | g.101543415C>T | CA462234301 | GRHL2 | c.195C>T (p.Gly65=) c.147C>T (p.Gly49=) n.523C>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.101543416C>A | CA371643405 | GRHL2 | c.196C>A (p.Leu66Met) c.148C>A (p.Leu50Met) n.524C>A | |
| 8 | g.101543416C>G | CA371643406 | GRHL2 | c.196C>G (p.Leu66Val) c.148C>G (p.Leu50Val) n.524C>G | |
| 8 | g.101543416C>T | CA462234304 | GRHL2 | c.196C>T (p.Leu66=) c.148C>T (p.Leu50=) n.524C>T | |
| 8 | g.101543417T>A | CA371643407 | GRHL2 | c.197T>A (p.Leu66Gln) c.149T>A (p.Leu50Gln) n.525T>A | |
| 8 | g.101543417T>C | CA371643408 | GRHL2 | c.197T>C (p.Leu66Pro) c.149T>C (p.Leu50Pro) n.525T>C | |
| 8 | g.101543417T>G | CA371643409 | GRHL2 | c.197T>G (p.Leu66Arg) c.149T>G (p.Leu50Arg) n.525T>G | |
| 8 | g.101543418G>A | CA462234309 | GRHL2 | c.198G>A (p.Leu66=) c.150G>A (p.Leu50=) n.526G>A | gnomAD v4 |
| 8 | g.101543418G>C | CA462234310 | GRHL2 | c.198G>C (p.Leu66=) c.150G>C (p.Leu50=) n.526G>C | |
| 8 | g.101543418G>T | CA462234311 | GRHL2 | c.198G>T (p.Leu66=) c.150G>T (p.Leu50=) n.526G>T | |
| 8 | g.101543419C>A | CA371643412 | GRHL2 | c.199C>A (p.Leu67Ile) c.151C>A (p.Leu51Ile) n.527C>A | |
| 8 | g.101543419C>G | CA371643411 | GRHL2 | c.199C>G (p.Leu67Val) c.151C>G (p.Leu51Val) n.527C>G | |
| 8 | g.101543419C>T | CA371643410 | GRHL2 | c.199C>T (p.Leu67Phe) c.151C>T (p.Leu51Phe) n.527C>T | |
| 8 | g.101543420T>A | CA371643413 | GRHL2 | c.200T>A (p.Leu67His) c.152T>A (p.Leu51His) n.528T>A | |
| 8 | g.101543420T>C | CA371643414 | GRHL2 | c.200T>C (p.Leu67Pro) c.152T>C (p.Leu51Pro) n.528T>C | |
| 8 | g.101543420T>G | CA371643415 | GRHL2 | c.200T>G (p.Leu67Arg) c.152T>G (p.Leu51Arg) n.528T>G | |
| 8 | g.101543421C>A | CA462234312 | GRHL2 | c.201C>A (p.Leu67=) c.153C>A (p.Leu51=) n.529C>A | |
| 8 | g.101543421C= | CA1806376433 | GRHL2 | c.201C= (p.Leu67=) c.153C= (p.Leu51=) n.529C= | |
| 8 | g.101543421C>G | CA182746665 | GRHL2 | c.201C>G (p.Leu67=) c.153C>G (p.Leu51=) n.529C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.101543421C>T | CA462234313 | GRHL2 | c.201C>T (p.Leu67=) c.153C>T (p.Leu51=) n.529C>T | COSMIC |
| 8 | g.101543422T>A | CA371643416 | GRHL2 | c.202T>A (p.Tyr68Asn) c.154T>A (p.Tyr52Asn) n.530T>A | |
| 8 | g.101543422T>C | CA371643417 | GRHL2 | c.202T>C (p.Tyr68His) c.154T>C (p.Tyr52His) n.530T>C | |
| 8 | g.101543422T>G | CA371643418 | GRHL2 | c.202T>G (p.Tyr68Asp) c.154T>G (p.Tyr52Asp) n.530T>G | |
| 8 | g.101543423A= | CA1806376434 | GRHL2 | c.203A= (p.Tyr68=) c.155A= (p.Tyr52=) n.531A= | |
| 8 | g.101543423A>C | CA371643419 | GRHL2 | c.203A>C (p.Tyr68Ser) c.155A>C (p.Tyr52Ser) n.531A>C | |
| 8 | g.101543423A>G | CA4830222 | GRHL2 | c.203A>G (p.Tyr68Cys) c.155A>G (p.Tyr52Cys) n.531A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.101543423A>T | CA371643420 | GRHL2 | c.203A>T (p.Tyr68Phe) c.155A>T (p.Tyr52Phe) n.531A>T | |
| 8 | g.101543424T>A | CA371643421 | GRHL2 | c.204T>A (p.Tyr68Ter) c.156T>A (p.Tyr52Ter) n.532T>A | |
| 8 | g.101543424T>C | CA462234314 | GRHL2 | c.204T>C (p.Tyr68=) c.156T>C (p.Tyr52=) n.532T>C | |
| 8 | g.101543424T>G | CA371643422 | GRHL2 | c.204T>G (p.Tyr68Ter) c.156T>G (p.Tyr52Ter) n.532T>G | |
| 8 | g.101543425G>A | CA371643424 | GRHL2 | c.205G>A (p.Asp69Asn) c.157G>A (p.Asp53Asn) n.533G>A | |
| 8 | g.101543425G>C | CA371643425 | GRHL2 | c.205G>C (p.Asp69His) c.157G>C (p.Asp53His) n.533G>C | |
| 8 | g.101543425G>T | CA371643423 | GRHL2 | c.205G>T (p.Asp69Tyr) c.157G>T (p.Asp53Tyr) n.533G>T | |
| 8 | g.101543426A>C | CA371643426 | GRHL2 | c.206A>C (p.Asp69Ala) c.158A>C (p.Asp53Ala) n.534A>C | |
| 8 | g.101543426A>G | CA371643427 | GRHL2 | c.206A>G (p.Asp69Gly) c.158A>G (p.Asp53Gly) n.534A>G | |
| 8 | g.101543426A>T | CA371643428 | GRHL2 | c.206A>T (p.Asp69Val) c.158A>T (p.Asp53Val) n.534A>T | |
| 8 | g.101543427C>A | CA371643429 | GRHL2 | c.207C>A (p.Asp69Glu) c.159C>A (p.Asp53Glu) n.535C>A | |
| 8 | g.101543427C>G | CA371643430 | GRHL2 | c.207C>G (p.Asp69Glu) c.159C>G (p.Asp53Glu) n.535C>G | gnomAD v4 |
| 8 | g.101543427C>T | CA462234318 | GRHL2 | c.207C>T (p.Asp69=) c.159C>T (p.Asp53=) n.535C>T | gnomAD v4 |
| 8 | g.101543428T>A | CA371643433 | GRHL2 | c.208T>A (p.Tyr70Asn) c.160T>A (p.Tyr54Asn) n.536T>A | |
| 8 | g.101543428T>C | CA371643431 | GRHL2 | c.208T>C (p.Tyr70His) c.160T>C (p.Tyr54His) n.536T>C | |
| 8 | g.101543428T>G | CA371643432 | GRHL2 | c.208T>G (p.Tyr70Asp) c.160T>G (p.Tyr54Asp) n.536T>G | |
| 8 | g.101543429A>C | CA371643434 | GRHL2 | c.209A>C (p.Tyr70Ser) c.161A>C (p.Tyr54Ser) n.537A>C | |
| 8 | g.101543429A>G | CA371643435 | GRHL2 | c.209A>G (p.Tyr70Cys) c.161A>G (p.Tyr54Cys) n.537A>G | |
| 8 | g.101543429A>T | CA371643436 | GRHL2 | c.209A>T (p.Tyr70Phe) c.161A>T (p.Tyr54Phe) n.537A>T | |
| 8 | g.101543430C>A | CA371643437 | GRHL2 | c.210C>A (p.Tyr70Ter) c.162C>A (p.Tyr54Ter) n.538C>A | |
| 8 | g.101543430C>G | CA371643438 | GRHL2 | c.210C>G (p.Tyr70Ter) c.162C>G (p.Tyr54Ter) n.538C>G | |
| 8 | g.101543430C>T | CA462234323 | GRHL2 | c.210C>T (p.Tyr70=) c.162C>T (p.Tyr54=) n.538C>T | gnomAD v4 |
| 8 | g.101543431T>A | CA371643439 | GRHL2 | c.211T>A (p.Tyr71Asn) c.163T>A (p.Tyr55Asn) n.539T>A | |
| 8 | g.101543431T>C | CA371643441 | GRHL2 | c.211T>C (p.Tyr71His) c.163T>C (p.Tyr55His) n.539T>C | |
| 8 | g.101543431T>G | CA371643440 | GRHL2 | c.211T>G (p.Tyr71Asp) c.163T>G (p.Tyr55Asp) n.539T>G | |
| 8 | g.101543432A>C | CA371643442 | GRHL2 | c.212A>C (p.Tyr71Ser) c.164A>C (p.Tyr55Ser) n.540A>C | |
| 8 | g.101543432A>G | CA371643443 | GRHL2 | c.212A>G (p.Tyr71Cys) c.164A>G (p.Tyr55Cys) n.540A>G | dbSNP |
| 8 | g.101543432A>T | CA371643444 | GRHL2 | c.212A>T (p.Tyr71Phe) c.164A>T (p.Tyr55Phe) n.540A>T | |
| 8 | g.101543433C>A | CA371643445 | GRHL2 | c.213C>A (p.Tyr71Ter) c.165C>A (p.Tyr55Ter) n.541C>A | |
| 8 | g.101543433C>G | CA371643446 | GRHL2 | c.213C>G (p.Tyr71Ter) c.165C>G (p.Tyr55Ter) n.541C>G | |
| 8 | g.101543433C>T | CA462234327 | GRHL2 | c.213C>T (p.Tyr71=) c.165C>T (p.Tyr55=) n.541C>T | |
| 8 | g.101543434A= | CA1806376435 | GRHL2 | c.214A= (p.Lys72=) c.166A= (p.Lys56=) n.542A= | |
| 8 | g.101543434A>C | CA371643447 | GRHL2 | c.214A>C (p.Lys72Gln) c.166A>C (p.Lys56Gln) n.542A>C | |
| 8 | g.101543434A>G | CA371643448 | GRHL2 | c.214A>G (p.Lys72Glu) c.166A>G (p.Lys56Glu) n.542A>G | dbSNP gnomAD v4 |
| 8 | g.101543434A>T | CA371643449 | GRHL2 | c.214A>T (p.Lys72Ter) c.166A>T (p.Lys56Ter) n.542A>T | |
| 8 | g.101543435A= | CA1806376436 | GRHL2 | c.215A= (p.Lys72=) c.167A= (p.Lys56=) n.543A= | |
| 8 | g.101543435A>C | CA371643450 | GRHL2 | c.215A>C (p.Lys72Thr) c.167A>C (p.Lys56Thr) n.543A>C | |
| 8 | g.101543435A>G | CA371643451 | GRHL2 | c.215A>G (p.Lys72Arg) c.167A>G (p.Lys56Arg) n.543A>G | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.101543435A>T | CA371643452 | GRHL2 | c.215A>T (p.Lys72Met) c.167A>T (p.Lys56Met) n.543A>T | |
| 8 | g.101543436G>A | CA4830223 | GRHL2 | c.216G>A (p.Lys72=) c.168G>A (p.Lys56=) n.544G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.101543436G>C | CA371643454 | GRHL2 | c.216G>C (p.Lys72Asn) c.168G>C (p.Lys56Asn) n.544G>C | |
| 8 | g.101543436G= | CA1806376437 | GRHL2 | c.216G= (p.Lys72=) c.168G= (p.Lys56=) n.544G= | |
| 8 | g.101543436G>T | CA371643453 | GRHL2 | c.216G>T (p.Lys72Asn) c.168G>T (p.Lys56Asn) n.544G>T | |
| 8 | g.101543437G>A | CA371643457 | GRHL2 | c.216+1G>A (n.216+1G>A) c.168+1G>A (n.168+1G>A) n.545G>A | |
| 8 | g.101543437G>C | CA371643455 | GRHL2 | c.216+1G>C (n.216+1G>C) c.168+1G>C (n.168+1G>C) n.545G>C | |
| 8 | g.101543437G>T | CA371643456 | GRHL2 | c.216+1G>T (n.216+1G>T) c.168+1G>T (n.168+1G>T) n.545G>T | |
| 8 | g.101543438T>A | CA371643458 | GRHL2 | c.216+2T>A (n.216+2T>A) c.168+2T>A (n.168+2T>A) n.546T>A | |
| 8 | g.101543438T>C | CA371643459 | GRHL2 | c.216+2T>C (n.216+2T>C) c.168+2T>C (n.168+2T>C) n.546T>C | |
| 8 | g.101543438T>G | CA371643460 | GRHL2 | c.216+2T>G (n.216+2T>G) c.168+2T>G (n.168+2T>G) n.546T>G | |
| 8 | g.101543439A= | CA1806376438 | GRHL2 | c.216+3A= (n.216+3A=) c.168+3A= (n.168+3A=) n.547A= | |
| 8 | g.101543439A>C | CA2688131403 | GRHL2 | c.216+3A>C (n.216+3A>C) c.168+3A>C (n.168+3A>C) n.547A>C | gnomAD v4 |
| 8 | g.101543439A>G | CA584021086 | GRHL2 | c.216+3A>G (n.216+3A>G) c.168+3A>G (n.168+3A>G) n.547A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.101543440G>C | CA2688131404 | GRHL2 | c.216+4G>C (n.216+4G>C) c.168+4G>C (n.168+4G>C) n.548G>C | gnomAD v4 |
| 8 | g.101543440G>T | CA645547883 | GRHL2 | c.216+4G>T (n.216+4G>T) c.168+4G>T (n.168+4G>T) n.548G>T | COSMIC |
| 8 | g.101543441G>C | CA182746669 | GRHL2 | c.216+5G>C (n.216+5G>C) c.168+5G>C (n.168+5G>C) n.549G>C | dbSNP |
| 8 | g.101543441G= | CA1806376439 | GRHL2 | c.216+5G= (n.216+5G=) c.168+5G= (n.168+5G=) n.549G= | |
| 8 | g.101543441G>T | CA2688131405 | GRHL2 | c.216+5G>T (n.216+5G>T) c.168+5G>T (n.168+5G>T) n.549G>T | gnomAD v4 |
| 8 | g.101543443C>A | CA584021087 | GRHL2 | c.216+7C>A (n.216+7C>A) c.168+7C>A (n.168+7C>A) n.551C>A | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.101543443C= | CA1806376440 | GRHL2 | c.216+7C= (n.216+7C=) c.168+7C= (n.168+7C=) n.551C= | |
| 8 | g.101543443C>T | CA182746671 | GRHL2 | c.216+7C>T (n.216+7C>T) c.168+7C>T (n.168+7C>T) n.551C>T | dbSNP gnomAD v3 |
| 8 | g.101543444C= | CA1806376441 | GRHL2 | c.216+8C= (n.216+8C=) c.168+8C= (n.168+8C=) n.552C= | |
| 8 | g.101543444C>T | CA182214 | GRHL2 | c.216+8C>T (n.216+8C>T) c.168+8C>T (n.168+8C>T) n.552C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.101543445C>A | CA2688131406 | GRHL2 | c.216+9C>A (n.216+9C>A) c.168+9C>A (n.168+9C>A) n.553C>A | gnomAD v4 |
| 8 | g.101543445C= | CA1806376442 | GRHL2 | c.216+9C= (n.216+9C=) c.168+9C= (n.168+9C=) n.553C= | |
| 8 | g.101543445C>G | CA4830224 | GRHL2 | c.216+9C>G (n.216+9C>G) c.168+9C>G (n.168+9C>G) n.553C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.101543446C>A | CA2579220422 | GRHL2 | c.216+10C>A (n.216+10C>A) c.168+10C>A (n.168+10C>A) n.554C>A | |
| 8 | g.101543446C= | CA1806376443 | GRHL2 | c.216+10C= (n.216+10C=) c.168+10C= (n.168+10C=) n.554C= | |
| 8 | g.101543446C>T | CA584021088 | GRHL2 | c.216+10C>T (n.216+10C>T) c.168+10C>T (n.168+10C>T) n.554C>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.101543448G>A | CA2688131407 | GRHL2 | c.216+12G>A (n.216+12G>A) c.168+12G>A (n.168+12G>A) n.556G>A | gnomAD v4 |
| 8 | g.101543449C>A | CA4830225 | GRHL2 | c.216+13C>A (n.216+13C>A) c.168+13C>A (n.168+13C>A) n.557C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.101543449C= | CA1806376444 | GRHL2 | c.216+13C= (n.216+13C=) c.168+13C= (n.168+13C=) n.557C= | |
| 8 | g.101543449C>G | CA2688131408 | GRHL2 | c.216+13C>G (n.216+13C>G) c.168+13C>G (n.168+13C>G) n.557C>G | gnomAD v4 |
| 8 | g.101543450C= | CA1806376445 | GRHL2 | c.216+14C= (n.216+14C=) c.168+14C= (n.168+14C=) n.558C= | |
| 8 | g.101543450C>T | CA2688131409 | GRHL2 | c.216+14C>T (n.216+14C>T) c.168+14C>T (n.168+14C>T) n.558C>T | gnomAD v4 |
| 8 | g.101543451_101543454dup | CA1806376446 | GRHL2 | c.216+15_216+18dup (n.216+15_216+18dup) c.168+15_168+18dup (n.168+15_168+18dup) n.559_562dup | dbSNP |
| 8 | g.101543452C= | CA1806376447 | GRHL2 | c.216+16C= (n.216+16C=) c.168+16C= (n.168+16C=) n.560C= | |
| 8 | g.101543452C>T | CA584021089 | GRHL2 | c.216+16C>T (n.216+16C>T) c.168+16C>T (n.168+16C>T) n.560C>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.101543453C= | CA1806376448 | GRHL2 | c.216+17C= (n.216+17C=) c.168+17C= (n.168+17C=) n.561C= | |
| 8 | g.101543453C>G | CA1806376449 | GRHL2 | c.216+17C>G (n.216+17C>G) c.168+17C>G (n.168+17C>G) n.561C>G | dbSNP |
| 8 | g.101543454A>G | CA2688131410 | GRHL2 | c.216+18A>G (n.216+18A>G) c.168+18A>G (n.168+18A>G) n.562A>G | gnomAD v4 |
| 8 | g.101543455C>A | CA2688131411 | GRHL2 | c.216+19C>A (n.216+19C>A) c.168+19C>A (n.168+19C>A) n.563C>A | gnomAD v4 |
| 8 | g.101543455C= | CA1806376450 | GRHL2 | c.216+19C= (n.216+19C=) c.168+19C= (n.168+19C=) n.563C= | |
| 8 | g.101543455C>T | CA4830226 | GRHL2 | c.216+19C>T (n.216+19C>T) c.168+19C>T (n.168+19C>T) n.563C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.101543457_101543462delinsTTTCTC | CA1806376451 | GRHL2 | c.216+21_216+26delinsTTTCTC (n.216+21_216+26delinsTTTCTC) c.168+21_168+26delinsTTTCTC (n.168+21_168+26delinsTTTCTC) n.565_570delinsTTTCTC | |
| 8 | g.101543462_101543466del | CA1806376452 | GRHL2 | c.216+26_216+30del (n.216+26_216+30del) c.168+26_168+30del (n.168+26_168+30del) n.570_574del | dbSNP |
| 8 | g.101543459T>G | CA182746678 | GRHL2 | c.216+23T>G (n.216+23T>G) c.168+23T>G (n.168+23T>G) n.567T>G | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.101543459T= | CA1806376453 | GRHL2 | c.216+23T= (n.216+23T=) c.168+23T= (n.168+23T=) n.567T= | |
| 8 | g.101543460C>A | CA1806376455 | GRHL2 | c.216+24C>A (n.216+24C>A) c.168+24C>A (n.168+24C>A) n.568C>A | dbSNP |
| 8 | g.101543460C= | CA1806376454 | GRHL2 | c.216+24C= (n.216+24C=) c.168+24C= (n.168+24C=) n.568C= | |
| 8 | g.101543462C>T | CA2688131412 | GRHL2 | c.216+26C>T (n.216+26C>T) c.168+26C>T (n.168+26C>T) n.570C>T | gnomAD v4 |
| 8 | g.101543463T>C | CA2579220423 | GRHL2 | c.216+27T>C (n.216+27T>C) c.168+27T>C (n.168+27T>C) n.571T>C | |
| 8 | g.101543463T>G | CA2579220424 | GRHL2 | c.216+27T>G (n.216+27T>G) c.168+27T>G (n.168+27T>G) n.571T>G | gnomAD v4 |
| 8 | g.101543465C>A | CA2688131413 | GRHL2 | c.216+29C>A (n.216+29C>A) c.168+29C>A (n.168+29C>A) n.573C>A | gnomAD v4 |
| 8 | g.101543465C= | CA1806376456 | GRHL2 | c.216+29C= (n.216+29C=) c.168+29C= (n.168+29C=) n.573C= | |
| 8 | g.101543465C>G | CA4830227 | GRHL2 | c.216+29C>G (n.216+29C>G) c.168+29C>G (n.168+29C>G) n.573C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.101543466T>A | CA2579220425 | GRHL2 | c.216+30T>A (n.216+30T>A) c.168+30T>A (n.168+30T>A) n.574T>A | |
| 8 | g.101543466T>C | CA2688131414 | GRHL2 | c.216+30T>C (n.216+30T>C) c.168+30T>C (n.168+30T>C) n.574T>C | gnomAD v4 |
| 8 | g.101543466T>G | CA2688131415 | GRHL2 | c.216+30T>G (n.216+30T>G) c.168+30T>G (n.168+30T>G) n.574T>G | gnomAD v4 |
| 8 | g.101543468C>A | CA2688131416 | GRHL2 | c.216+32C>A (n.216+32C>A) c.168+32C>A (n.168+32C>A) n.576C>A | gnomAD v4 |
| 8 | g.101543469C>A | CA2688131417 | GRHL2 | c.216+33C>A (n.216+33C>A) c.168+33C>A (n.168+33C>A) n.577C>A | gnomAD v4 |
| 8 | g.101543469C>T | CA2579220426 | GRHL2 | c.216+33C>T (n.216+33C>T) c.168+33C>T (n.168+33C>T) n.577C>T | gnomAD v4 |
| 8 | g.101543471G>A | CA4830228 | GRHL2 | c.216+35G>A (n.216+35G>A) c.168+35G>A (n.168+35G>A) n.579G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.101543471G>C | CA2579220427 | GRHL2 | c.216+35G>C (n.216+35G>C) c.168+35G>C (n.168+35G>C) n.579G>C | |
| 8 | g.101543471G= | CA1806376457 | GRHL2 | c.216+35G= (n.216+35G=) c.168+35G= (n.168+35G=) n.579G= | |
| 8 | g.101543472C>A | CA2688131419 | GRHL2 | c.216+36C>A (n.216+36C>A) c.168+36C>A (n.168+36C>A) n.580C>A | gnomAD v4 |
| 8 | g.101543472C>G | CA2688131418 | GRHL2 | c.216+36C>G (n.216+36C>G) c.168+36C>G (n.168+36C>G) n.580C>G | gnomAD v4 |