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.55017506T>A | CA413294252 | ALAS2 | c.983A>T (p.Glu328Val) c.872A>T (p.Glu291Val) c.944A>T (p.Glu315Val) n.274A>T c.1055A>T (p.Glu352Val) c.122A>T (p.Glu41Val) | |
| X | g.55017506T>C | CA413294253 | ALAS2 | c.983A>G (p.Glu328Gly) c.872A>G (p.Glu291Gly) c.944A>G (p.Glu315Gly) n.274A>G c.1055A>G (p.Glu352Gly) c.122A>G (p.Glu41Gly) | |
| X | g.55017506T>G | CA413294255 | ALAS2 | c.983A>C (p.Glu328Ala) c.872A>C (p.Glu291Ala) c.944A>C (p.Glu315Ala) n.274A>C c.1055A>C (p.Glu352Ala) c.122A>C (p.Glu41Ala) | |
| X | g.55017507C>A | CA413294257 | ALAS2 | c.982G>T (p.Glu328Ter) c.871G>T (p.Glu291Ter) c.943G>T (p.Glu315Ter) n.273G>T c.1054G>T (p.Glu352Ter) c.121G>T (p.Glu41Ter) | |
| X | g.55017507C= | CA2430391377 | ALAS2 | c.982G= (p.Glu328=) c.871G= (p.Glu291=) c.943G= (p.Glu315=) n.273G= c.1054G= (p.Glu352=) c.121G= (p.Glu41=) | |
| X | g.55017507C>G | CA10428360 | ALAS2 | c.982G>C (p.Glu328Gln) c.871G>C (p.Glu291Gln) c.943G>C (p.Glu315Gln) n.273G>C c.1054G>C (p.Glu352Gln) c.121G>C (p.Glu41Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.55017507C>T | CA413294259 | ALAS2 | c.982G>A (p.Glu328Lys) c.871G>A (p.Glu291Lys) c.943G>A (p.Glu315Lys) n.273G>A c.1054G>A (p.Glu352Lys) c.121G>A (p.Glu41Lys) | |
| X | g.55017508A>C | CA413294261 | ALAS2 | c.981T>G (p.Phe327Leu) c.870T>G (p.Phe290Leu) c.942T>G (p.Phe314Leu) n.272T>G c.1053T>G (p.Phe351Leu) c.120T>G (p.Phe40Leu) | |
| X | g.55017508A>G | CA516582603 | ALAS2 | c.981T>C (p.Phe327=) c.870T>C (p.Phe290=) c.942T>C (p.Phe314=) n.272T>C c.1053T>C (p.Phe351=) c.120T>C (p.Phe40=) | |
| X | g.55017508A>T | CA413294263 | ALAS2 | c.981T>A (p.Phe327Leu) c.870T>A (p.Phe290Leu) c.942T>A (p.Phe314Leu) n.272T>A c.1053T>A (p.Phe351Leu) c.120T>A (p.Phe40Leu) | |
| X | g.55017509A>C | CA413294264 | ALAS2 | c.980T>G (p.Phe327Cys) c.869T>G (p.Phe290Cys) c.941T>G (p.Phe314Cys) n.271T>G c.1052T>G (p.Phe351Cys) c.119T>G (p.Phe40Cys) | |
| X | g.55017509A>G | CA413294266 | ALAS2 | c.980T>C (p.Phe327Ser) c.869T>C (p.Phe290Ser) c.941T>C (p.Phe314Ser) n.271T>C c.1052T>C (p.Phe351Ser) c.119T>C (p.Phe40Ser) | |
| X | g.55017509A>T | CA413294268 | ALAS2 | c.980T>A (p.Phe327Tyr) c.869T>A (p.Phe290Tyr) c.941T>A (p.Phe314Tyr) n.271T>A c.1052T>A (p.Phe351Tyr) c.119T>A (p.Phe40Tyr) | |
| X | g.55017510A>C | CA413294270 | ALAS2 | c.979T>G (p.Phe327Val) c.868T>G (p.Phe290Val) c.940T>G (p.Phe314Val) n.270T>G c.1051T>G (p.Phe351Val) c.118T>G (p.Phe40Val) | |
| X | g.55017510A>G | CA413294273 | ALAS2 | c.979T>C (p.Phe327Leu) c.868T>C (p.Phe290Leu) c.940T>C (p.Phe314Leu) n.270T>C c.1051T>C (p.Phe351Leu) c.118T>C (p.Phe40Leu) | |
| X | g.55017510A>T | CA413294271 | ALAS2 | c.979T>A (p.Phe327Ile) c.868T>A (p.Phe290Ile) c.940T>A (p.Phe314Ile) n.270T>A c.1051T>A (p.Phe351Ile) c.118T>A (p.Phe40Ile) | |
| X | g.55017511G>A | CA516582604 | ALAS2 | c.978C>T (p.Ala326=) c.867C>T (p.Ala289=) c.939C>T (p.Ala313=) n.269C>T c.1050C>T (p.Ala350=) c.117C>T (p.Ala39=) | |
| X | g.55017511G>C | CA516582605 | ALAS2 | c.978C>G (p.Ala326=) c.867C>G (p.Ala289=) c.939C>G (p.Ala313=) n.269C>G c.1050C>G (p.Ala350=) c.117C>G (p.Ala39=) | |
| X | g.55017511G>T | CA516582606 | ALAS2 | c.978C>A (p.Ala326=) c.867C>A (p.Ala289=) c.939C>A (p.Ala313=) n.269C>A c.1050C>A (p.Ala350=) c.117C>A (p.Ala39=) | |
| X | g.55017512G>A | CA413294275 | ALAS2 | c.977C>T (p.Ala326Val) c.866C>T (p.Ala289Val) c.938C>T (p.Ala313Val) n.268C>T c.1049C>T (p.Ala350Val) c.116C>T (p.Ala39Val) | gnomAD v4 |
| X | g.55017512G>C | CA413294276 | ALAS2 | c.977C>G (p.Ala326Gly) c.866C>G (p.Ala289Gly) c.938C>G (p.Ala313Gly) n.268C>G c.1049C>G (p.Ala350Gly) c.116C>G (p.Ala39Gly) | gnomAD v4 |
| X | g.55017512G>T | CA413294278 | ALAS2 | c.977C>A (p.Ala326Asp) c.866C>A (p.Ala289Asp) c.938C>A (p.Ala313Asp) n.268C>A c.1049C>A (p.Ala350Asp) c.116C>A (p.Ala39Asp) | |
| X | g.55017513C>A | CA413294279 | ALAS2 | c.976G>T (p.Ala326Ser) c.865G>T (p.Ala289Ser) c.937G>T (p.Ala313Ser) n.267G>T c.1048G>T (p.Ala350Ser) c.115G>T (p.Ala39Ser) | |
| X | g.55017513C>G | CA413294280 | ALAS2 | c.976G>C (p.Ala326Pro) c.865G>C (p.Ala289Pro) c.937G>C (p.Ala313Pro) n.267G>C c.1048G>C (p.Ala350Pro) c.115G>C (p.Ala39Pro) | |
| X | g.55017513C>T | CA413294281 | ALAS2 | c.976G>A (p.Ala326Thr) c.865G>A (p.Ala289Thr) c.937G>A (p.Ala313Thr) n.267G>A c.1048G>A (p.Ala350Thr) c.115G>A (p.Ala39Thr) | |
| X | g.55017514C>A | CA328971988 | ALAS2 | c.975G>T (p.Val325=) c.864G>T (p.Val288=) c.936G>T (p.Val312=) n.266G>T c.1047G>T (p.Val349=) c.114G>T (p.Val38=) | dbSNP gnomAD v4 |
| X | g.55017514C= | CA2430391378 | ALAS2 | c.975G= (p.Val325=) c.864G= (p.Val288=) c.936G= (p.Val312=) n.266G= c.1047G= (p.Val349=) c.114G= (p.Val38=) | |
| X | g.55017514C>G | CA516582607 | ALAS2 | c.975G>C (p.Val325=) c.864G>C (p.Val288=) c.936G>C (p.Val312=) n.266G>C c.1047G>C (p.Val349=) c.114G>C (p.Val38=) | |
| X | g.55017514C>T | CA516582608 | ALAS2 | c.975G>A (p.Val325=) c.864G>A (p.Val288=) c.936G>A (p.Val312=) n.266G>A c.1047G>A (p.Val349=) c.114G>A (p.Val38=) | |
| X | g.55017515A>C | CA413294282 | ALAS2 | c.974T>G (p.Val325Gly) c.863T>G (p.Val288Gly) c.935T>G (p.Val312Gly) n.265T>G c.1046T>G (p.Val349Gly) c.113T>G (p.Val38Gly) | |
| X | g.55017515A>G | CA413294283 | ALAS2 | c.974T>C (p.Val325Ala) c.863T>C (p.Val288Ala) c.935T>C (p.Val312Ala) n.265T>C c.1046T>C (p.Val349Ala) c.113T>C (p.Val38Ala) | |
| X | g.55017515A>T | CA413294284 | ALAS2 | c.974T>A (p.Val325Glu) c.863T>A (p.Val288Glu) c.935T>A (p.Val312Glu) n.265T>A c.1046T>A (p.Val349Glu) c.113T>A (p.Val38Glu) | |
| X | g.55017516C>A | CA413294286 | ALAS2 | c.973G>T (p.Val325Leu) c.862G>T (p.Val288Leu) c.934G>T (p.Val312Leu) n.264G>T c.1045G>T (p.Val349Leu) c.112G>T (p.Val38Leu) | |
| X | g.55017516C>G | CA413294287 | ALAS2 | c.973G>C (p.Val325Leu) c.862G>C (p.Val288Leu) c.934G>C (p.Val312Leu) n.264G>C c.1045G>C (p.Val349Leu) c.112G>C (p.Val38Leu) | |
| X | g.55017516C>T | CA413294285 | ALAS2 | c.973G>A (p.Val325Met) c.862G>A (p.Val288Met) c.934G>A (p.Val312Met) n.264G>A c.1045G>A (p.Val349Met) c.112G>A (p.Val38Met) | |
| X | g.55017517A>C | CA413294288 | ALAS2 | c.972T>G (p.Ile324Met) c.861T>G (p.Ile287Met) c.933T>G (p.Ile311Met) n.263T>G c.1044T>G (p.Ile348Met) c.111T>G (p.Ile37Met) | |
| X | g.55017517A>G | CA516582609 | ALAS2 | c.972T>C (p.Ile324=) c.861T>C (p.Ile287=) c.933T>C (p.Ile311=) n.263T>C c.1044T>C (p.Ile348=) c.111T>C (p.Ile37=) | |
| X | g.55017517A>T | CA516582610 | ALAS2 | c.972T>A (p.Ile324=) c.861T>A (p.Ile287=) c.933T>A (p.Ile311=) n.263T>A c.1044T>A (p.Ile348=) c.111T>A (p.Ile37=) | |
| X | g.55017518A>C | CA413294289 | ALAS2 | c.971T>G (p.Ile324Ser) c.860T>G (p.Ile287Ser) c.932T>G (p.Ile311Ser) n.262T>G c.1043T>G (p.Ile348Ser) c.110T>G (p.Ile37Ser) | |
| X | g.55017518A>G | CA413294290 | ALAS2 | c.971T>C (p.Ile324Thr) c.860T>C (p.Ile287Thr) c.932T>C (p.Ile311Thr) n.262T>C c.1043T>C (p.Ile348Thr) c.110T>C (p.Ile37Thr) | gnomAD v4 |
| X | g.55017518A>T | CA413294291 | ALAS2 | c.971T>A (p.Ile324Asn) c.860T>A (p.Ile287Asn) c.932T>A (p.Ile311Asn) n.262T>A c.1043T>A (p.Ile348Asn) c.110T>A (p.Ile37Asn) | |
| X | g.55017519T>A | CA413294292 | ALAS2 | c.970A>T (p.Ile324Phe) c.859A>T (p.Ile287Phe) c.931A>T (p.Ile311Phe) n.261A>T c.1042A>T (p.Ile348Phe) c.109A>T (p.Ile37Phe) | |
| X | g.55017519T>C | CA413294293 | ALAS2 | c.970A>G (p.Ile324Val) c.859A>G (p.Ile287Val) c.931A>G (p.Ile311Val) n.261A>G c.1042A>G (p.Ile348Val) c.109A>G (p.Ile37Val) | |
| X | g.55017519T>G | CA413294294 | ALAS2 | c.970A>C (p.Ile324Leu) c.859A>C (p.Ile287Leu) c.931A>C (p.Ile311Leu) n.261A>C c.1042A>C (p.Ile348Leu) c.109A>C (p.Ile37Leu) | |
| X | g.55017520T>A | CA413294295 | ALAS2 | c.969A>T (p.Lys323Asn) c.858A>T (p.Lys286Asn) c.930A>T (p.Lys310Asn) n.260A>T c.1041A>T (p.Lys347Asn) c.108A>T (p.Lys36Asn) | |
| X | g.55017520T>C | CA516582611 | ALAS2 | c.969A>G (p.Lys323=) c.858A>G (p.Lys286=) c.930A>G (p.Lys310=) n.260A>G c.1041A>G (p.Lys347=) c.108A>G (p.Lys36=) | |
| X | g.55017520T>G | CA413294296 | ALAS2 | c.969A>C (p.Lys323Asn) c.858A>C (p.Lys286Asn) c.930A>C (p.Lys310Asn) n.260A>C c.1041A>C (p.Lys347Asn) c.108A>C (p.Lys36Asn) | |
| X | g.55017521T>A | CA413294297 | ALAS2 | c.968A>T (p.Lys323Ile) c.857A>T (p.Lys286Ile) c.929A>T (p.Lys310Ile) n.259A>T c.1040A>T (p.Lys347Ile) c.107A>T (p.Lys36Ile) | |
| X | g.55017521T>C | CA413294298 | ALAS2 | c.968A>G (p.Lys323Arg) c.857A>G (p.Lys286Arg) c.929A>G (p.Lys310Arg) n.259A>G c.1040A>G (p.Lys347Arg) c.107A>G (p.Lys36Arg) | dbSNP |
| X | g.55017521T>G | CA413294299 | ALAS2 | c.968A>C (p.Lys323Thr) c.857A>C (p.Lys286Thr) c.929A>C (p.Lys310Thr) n.259A>C c.1040A>C (p.Lys347Thr) c.107A>C (p.Lys36Thr) | |
| X | g.55017521T= | CA2430391379 | ALAS2 | c.968A= (p.Lys323=) c.857A= (p.Lys286=) c.929A= (p.Lys310=) n.259A= c.1040A= (p.Lys347=) c.107A= (p.Lys36=) | |
| X | g.55017522T>A | CA413294300 | ALAS2 | c.967A>T (p.Lys323Ter) c.856A>T (p.Lys286Ter) c.928A>T (p.Lys310Ter) n.258A>T c.1039A>T (p.Lys347Ter) c.106A>T (p.Lys36Ter) | |
| X | g.55017522T>C | CA413294301 | ALAS2 | c.967A>G (p.Lys323Glu) c.856A>G (p.Lys286Glu) c.928A>G (p.Lys310Glu) n.258A>G c.1039A>G (p.Lys347Glu) c.106A>G (p.Lys36Glu) | |
| X | g.55017522T>G | CA413294302 | ALAS2 | c.967A>C (p.Lys323Gln) c.856A>C (p.Lys286Gln) c.928A>C (p.Lys310Gln) n.258A>C c.1039A>C (p.Lys347Gln) c.106A>C (p.Lys36Gln) | |
| X | g.55017523G>A | CA516582614 | ALAS2 | c.966C>T (p.Pro322=) c.855C>T (p.Pro285=) c.927C>T (p.Pro309=) n.257C>T c.1038C>T (p.Pro346=) c.105C>T (p.Pro35=) | |
| X | g.55017523G>C | CA516582613 | ALAS2 | c.966C>G (p.Pro322=) c.855C>G (p.Pro285=) c.927C>G (p.Pro309=) n.257C>G c.1038C>G (p.Pro346=) c.105C>G (p.Pro35=) | gnomAD v4 |
| X | g.55017523G>T | CA516582612 | ALAS2 | c.966C>A (p.Pro322=) c.855C>A (p.Pro285=) c.927C>A (p.Pro309=) n.257C>A c.1038C>A (p.Pro346=) c.105C>A (p.Pro35=) | |
| X | g.55017524G>A | CA413294303 | ALAS2 | c.965C>T (p.Pro322Leu) c.854C>T (p.Pro285Leu) c.926C>T (p.Pro309Leu) n.256C>T c.1037C>T (p.Pro346Leu) c.104C>T (p.Pro35Leu) | |
| X | g.55017524G>C | CA413294305 | ALAS2 | c.965C>G (p.Pro322Arg) c.854C>G (p.Pro285Arg) c.926C>G (p.Pro309Arg) n.256C>G c.1037C>G (p.Pro346Arg) c.104C>G (p.Pro35Arg) | |
| X | g.55017524G>T | CA413294304 | ALAS2 | c.965C>A (p.Pro322His) c.854C>A (p.Pro285His) c.926C>A (p.Pro309His) n.256C>A c.1037C>A (p.Pro346His) c.104C>A (p.Pro35His) | |
| X | g.55017525G>A | CA413294306 | ALAS2 | c.964C>T (p.Pro322Ser) c.853C>T (p.Pro285Ser) c.925C>T (p.Pro309Ser) n.255C>T c.1036C>T (p.Pro346Ser) c.103C>T (p.Pro35Ser) | |
| X | g.55017525G>C | CA413294307 | ALAS2 | c.964C>G (p.Pro322Ala) c.853C>G (p.Pro285Ala) c.925C>G (p.Pro309Ala) n.255C>G c.1036C>G (p.Pro346Ala) c.103C>G (p.Pro35Ala) | |
| X | g.55017525G>T | CA413294308 | ALAS2 | c.964C>A (p.Pro322Thr) c.853C>A (p.Pro285Thr) c.925C>A (p.Pro309Thr) n.255C>A c.1036C>A (p.Pro346Thr) c.103C>A (p.Pro35Thr) | |
| X | g.55017526T>A | CA516582615 | ALAS2 | c.963A>T (p.Ile321=) c.852A>T (p.Ile284=) c.924A>T (p.Ile308=) n.254A>T c.1035A>T (p.Ile345=) c.102A>T (p.Ile34=) | |
| X | g.55017526T>C | CA413294309 | ALAS2 | c.963A>G (p.Ile321Met) c.852A>G (p.Ile284Met) c.924A>G (p.Ile308Met) n.254A>G c.1035A>G (p.Ile345Met) c.102A>G (p.Ile34Met) | |
| X | g.55017526T>G | CA516582616 | ALAS2 | c.963A>C (p.Ile321=) c.852A>C (p.Ile284=) c.924A>C (p.Ile308=) n.254A>C c.1035A>C (p.Ile345=) c.102A>C (p.Ile34=) | |
| X | g.55017527A>C | CA413294310 | ALAS2 | c.962T>G (p.Ile321Arg) c.851T>G (p.Ile284Arg) c.923T>G (p.Ile308Arg) n.253T>G c.1034T>G (p.Ile345Arg) c.101T>G (p.Ile34Arg) | |
| X | g.55017527A>G | CA413294311 | ALAS2 | c.962T>C (p.Ile321Thr) c.851T>C (p.Ile284Thr) c.923T>C (p.Ile308Thr) n.253T>C c.1034T>C (p.Ile345Thr) c.101T>C (p.Ile34Thr) | |
| X | g.55017527A>T | CA413294312 | ALAS2 | c.962T>A (p.Ile321Lys) c.851T>A (p.Ile284Lys) c.923T>A (p.Ile308Lys) n.253T>A c.1034T>A (p.Ile345Lys) c.101T>A (p.Ile34Lys) | |
| X | g.55017528T>A | CA413294313 | ALAS2 | c.961A>T (p.Ile321Leu) c.850A>T (p.Ile284Leu) c.922A>T (p.Ile308Leu) n.252A>T c.1033A>T (p.Ile345Leu) c.100A>T (p.Ile34Leu) | |
| X | g.55017528T>C | CA413294314 | ALAS2 | c.961A>G (p.Ile321Val) c.850A>G (p.Ile284Val) c.922A>G (p.Ile308Val) n.252A>G c.1033A>G (p.Ile345Val) c.100A>G (p.Ile34Val) | |
| X | g.55017528T>G | CA413294315 | ALAS2 | c.961A>C (p.Ile321Leu) c.850A>C (p.Ile284Leu) c.922A>C (p.Ile308Leu) n.252A>C c.1033A>C (p.Ile345Leu) c.100A>C (p.Ile34Leu) | |
| X | g.55017529C>A | CA413294316 | ALAS2 | c.960G>T (p.Lys320Asn) c.849G>T (p.Lys283Asn) c.921G>T (p.Lys307Asn) n.251G>T c.1032G>T (p.Lys344Asn) c.99G>T (p.Lys33Asn) | |
| X | g.55017529C>G | CA413294317 | ALAS2 | c.960G>C (p.Lys320Asn) c.849G>C (p.Lys283Asn) c.921G>C (p.Lys307Asn) n.251G>C c.1032G>C (p.Lys344Asn) c.99G>C (p.Lys33Asn) | |
| X | g.55017529C>T | CA516582618 | ALAS2 | c.960G>A (p.Lys320=) c.849G>A (p.Lys283=) c.921G>A (p.Lys307=) n.251G>A c.1032G>A (p.Lys344=) c.99G>A (p.Lys33=) | |
| X | g.55017530T>A | CA413294320 | ALAS2 | c.959A>T (p.Lys320Met) c.848A>T (p.Lys283Met) c.920A>T (p.Lys307Met) n.250A>T c.1031A>T (p.Lys344Met) c.98A>T (p.Lys33Met) | dbSNP |
| X | g.55017530T>C | CA413294318 | ALAS2 | c.959A>G (p.Lys320Arg) c.848A>G (p.Lys283Arg) c.920A>G (p.Lys307Arg) n.250A>G c.1031A>G (p.Lys344Arg) c.98A>G (p.Lys33Arg) | |
| X | g.55017530T>G | CA413294319 | ALAS2 | c.959A>C (p.Lys320Thr) c.848A>C (p.Lys283Thr) c.920A>C (p.Lys307Thr) n.250A>C c.1031A>C (p.Lys344Thr) c.98A>C (p.Lys33Thr) | |
| X | g.55017531T>A | CA413294321 | ALAS2 | c.958A>T (p.Lys320Ter) c.847A>T (p.Lys283Ter) c.919A>T (p.Lys307Ter) n.249A>T c.1030A>T (p.Lys344Ter) c.97A>T (p.Lys33Ter) | |
| X | g.55017531T>C | CA413294322 | ALAS2 | c.958A>G (p.Lys320Glu) c.847A>G (p.Lys283Glu) c.919A>G (p.Lys307Glu) n.249A>G c.1030A>G (p.Lys344Glu) c.97A>G (p.Lys33Glu) | |
| X | g.55017531T>G | CA413294323 | ALAS2 | c.958A>C (p.Lys320Gln) c.847A>C (p.Lys283Gln) c.919A>C (p.Lys307Gln) n.249A>C c.1030A>C (p.Lys344Gln) c.97A>C (p.Lys33Gln) | |
| X | g.55017532A>C | CA516582620 | ALAS2 | c.957T>G (p.Pro319=) c.846T>G (p.Pro282=) c.918T>G (p.Pro306=) n.248T>G c.1029T>G (p.Pro343=) c.96T>G (p.Pro32=) | gnomAD v4 |
| X | g.55017532A>G | CA516582621 | ALAS2 | c.957T>C (p.Pro319=) c.846T>C (p.Pro282=) c.918T>C (p.Pro306=) n.248T>C c.1029T>C (p.Pro343=) c.96T>C (p.Pro32=) | |
| X | g.55017532A>T | CA516582622 | ALAS2 | c.957T>A (p.Pro319=) c.846T>A (p.Pro282=) c.918T>A (p.Pro306=) n.248T>A c.1029T>A (p.Pro343=) c.96T>A (p.Pro32=) | |
| X | g.55017533G>A | CA413294324 | ALAS2 | c.956C>T (p.Pro319Leu) c.845C>T (p.Pro282Leu) c.917C>T (p.Pro306Leu) n.247C>T c.1028C>T (p.Pro343Leu) c.95C>T (p.Pro32Leu) | |
| X | g.55017533G>C | CA413294325 | ALAS2 | c.956C>G (p.Pro319Arg) c.845C>G (p.Pro282Arg) c.917C>G (p.Pro306Arg) n.247C>G c.1028C>G (p.Pro343Arg) c.95C>G (p.Pro32Arg) | |
| X | g.55017533G>T | CA413294326 | ALAS2 | c.956C>A (p.Pro319His) c.845C>A (p.Pro282His) c.917C>A (p.Pro306His) n.247C>A c.1028C>A (p.Pro343His) c.95C>A (p.Pro32His) | |
| X | g.55017534G>A | CA413294329 | ALAS2 | c.955C>T (p.Pro319Ser) c.844C>T (p.Pro282Ser) c.916C>T (p.Pro306Ser) n.246C>T c.1027C>T (p.Pro343Ser) c.94C>T (p.Pro32Ser) | gnomAD v4 |
| X | g.55017534G>C | CA413294327 | ALAS2 | c.955C>G (p.Pro319Ala) c.844C>G (p.Pro282Ala) c.916C>G (p.Pro306Ala) n.246C>G c.1027C>G (p.Pro343Ala) c.94C>G (p.Pro32Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.55017534G= | CA2430391380 | ALAS2 | c.955C= (p.Pro319=) c.844C= (p.Pro282=) c.916C= (p.Pro306=) n.246C= c.1027C= (p.Pro343=) c.94C= (p.Pro32=) | |
| X | g.55017534G>T | CA413294328 | ALAS2 | c.955C>A (p.Pro319Thr) c.844C>A (p.Pro282Thr) c.916C>A (p.Pro306Thr) n.246C>A c.1027C>A (p.Pro343Thr) c.94C>A (p.Pro32Thr) | |
| X | g.55017535G>A | CA516582623 | ALAS2 | c.954C>T (p.Asn318=) c.843C>T (p.Asn281=) c.915C>T (p.Asn305=) n.245C>T c.1026C>T (p.Asn342=) c.93C>T (p.Asn31=) | |
| X | g.55017535G>C | CA413294330 | ALAS2 | c.954C>G (p.Asn318Lys) c.843C>G (p.Asn281Lys) c.915C>G (p.Asn305Lys) n.245C>G c.1026C>G (p.Asn342Lys) c.93C>G (p.Asn31Lys) | |
| X | g.55017535G>T | CA413294331 | ALAS2 | c.954C>A (p.Asn318Lys) c.843C>A (p.Asn281Lys) c.915C>A (p.Asn305Lys) n.245C>A c.1026C>A (p.Asn342Lys) c.93C>A (p.Asn31Lys) | |
| X | g.55017536T>A | CA413294332 | ALAS2 | c.953A>T (p.Asn318Ile) c.842A>T (p.Asn281Ile) c.914A>T (p.Asn305Ile) n.244A>T c.1025A>T (p.Asn342Ile) c.92A>T (p.Asn31Ile) | |
| X | g.55017536T>C | CA413294333 | ALAS2 | c.953A>G (p.Asn318Ser) c.842A>G (p.Asn281Ser) c.914A>G (p.Asn305Ser) n.244A>G c.1025A>G (p.Asn342Ser) c.92A>G (p.Asn31Ser) | |
| X | g.55017536T>G | CA413294334 | ALAS2 | c.953A>C (p.Asn318Thr) c.842A>C (p.Asn281Thr) c.914A>C (p.Asn305Thr) n.244A>C c.1025A>C (p.Asn342Thr) c.92A>C (p.Asn31Thr) | |
| X | g.55017537T>A | CA413294337 | ALAS2 | c.952A>T (p.Asn318Tyr) c.841A>T (p.Asn281Tyr) c.913A>T (p.Asn305Tyr) n.243A>T c.1024A>T (p.Asn342Tyr) c.91A>T (p.Asn31Tyr) | |
| X | g.55017537T>C | CA413294335 | ALAS2 | c.952A>G (p.Asn318Asp) c.841A>G (p.Asn281Asp) c.913A>G (p.Asn305Asp) n.243A>G c.1024A>G (p.Asn342Asp) c.91A>G (p.Asn31Asp) | |
| X | g.55017537T>G | CA413294336 | ALAS2 | c.952A>C (p.Asn318His) c.841A>C (p.Asn281His) c.913A>C (p.Asn305His) n.243A>C c.1024A>C (p.Asn342His) c.91A>C (p.Asn31His) | |
| X | g.55017538A= | CA2430391381 | ALAS2 | c.951T= (p.Ser317=) c.840T= (p.Ser280=) c.912T= (p.Ser304=) n.242T= c.1023T= (p.Ser341=) c.90T= (p.Ser30=) | |
| X | g.55017538A>C | CA516582624 | ALAS2 | c.951T>G (p.Ser317=) c.840T>G (p.Ser280=) c.912T>G (p.Ser304=) n.242T>G c.1023T>G (p.Ser341=) c.90T>G (p.Ser30=) | |
| X | g.55017538A>G | CA328972006 | ALAS2 | c.951T>C (p.Ser317=) c.840T>C (p.Ser280=) c.912T>C (p.Ser304=) n.242T>C c.1023T>C (p.Ser341=) c.90T>C (p.Ser30=) | dbSNP |
| X | g.55017538A>T | CA516582625 | ALAS2 | c.951T>A (p.Ser317=) c.840T>A (p.Ser280=) c.912T>A (p.Ser304=) n.242T>A c.1023T>A (p.Ser341=) c.90T>A (p.Ser30=) | |
| X | g.55017539G>A | CA413294338 | ALAS2 | c.950C>T (p.Ser317Phe) c.839C>T (p.Ser280Phe) c.911C>T (p.Ser304Phe) n.241C>T c.1022C>T (p.Ser341Phe) c.89C>T (p.Ser30Phe) | |
| X | g.55017539G>C | CA413294339 | ALAS2 | c.950C>G (p.Ser317Cys) c.839C>G (p.Ser280Cys) c.911C>G (p.Ser304Cys) n.241C>G c.1022C>G (p.Ser341Cys) c.89C>G (p.Ser30Cys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.55017539G= | CA2430391382 | ALAS2 | c.950C= (p.Ser317=) c.839C= (p.Ser280=) c.911C= (p.Ser304=) n.241C= c.1022C= (p.Ser341=) c.89C= (p.Ser30=) | |
| X | g.55017539G>T | CA413294340 | ALAS2 | c.950C>A (p.Ser317Tyr) c.839C>A (p.Ser280Tyr) c.911C>A (p.Ser304Tyr) n.241C>A c.1022C>A (p.Ser341Tyr) c.89C>A (p.Ser30Tyr) | |
| X | g.55017540A>C | CA413294341 | ALAS2 | c.949T>G (p.Ser317Ala) c.838T>G (p.Ser280Ala) c.910T>G (p.Ser304Ala) n.240T>G c.1021T>G (p.Ser341Ala) c.88T>G (p.Ser30Ala) | |
| X | g.55017540A>G | CA413294342 | ALAS2 | c.949T>C (p.Ser317Pro) c.838T>C (p.Ser280Pro) c.910T>C (p.Ser304Pro) n.240T>C c.1021T>C (p.Ser341Pro) c.88T>C (p.Ser30Pro) | |
| X | g.55017540A>T | CA413294343 | ALAS2 | c.949T>A (p.Ser317Thr) c.838T>A (p.Ser280Thr) c.910T>A (p.Ser304Thr) n.240T>A c.1021T>A (p.Ser341Thr) c.88T>A (p.Ser30Thr) | |
| X | g.55017541C>A | CA413294344 | ALAS2 | c.948G>T (p.Lys316Asn) c.837G>T (p.Lys279Asn) c.909G>T (p.Lys303Asn) n.239G>T c.1020G>T (p.Lys340Asn) c.87G>T (p.Lys29Asn) | |
| X | g.55017541C>G | CA413294345 | ALAS2 | c.948G>C (p.Lys316Asn) c.837G>C (p.Lys279Asn) c.909G>C (p.Lys303Asn) n.239G>C c.1020G>C (p.Lys340Asn) c.87G>C (p.Lys29Asn) | gnomAD v4 |
| X | g.55017541C>T | CA516582626 | ALAS2 | c.948G>A (p.Lys316=) c.837G>A (p.Lys279=) c.909G>A (p.Lys303=) n.239G>A c.1020G>A (p.Lys340=) c.87G>A (p.Lys29=) | |
| X | g.55017542T>A | CA413294346 | ALAS2 | c.947A>T (p.Lys316Met) c.836A>T (p.Lys279Met) c.908A>T (p.Lys303Met) n.238A>T c.1019A>T (p.Lys340Met) c.86A>T (p.Lys29Met) | |
| X | g.55017542T>C | CA413294347 | ALAS2 | c.947A>G (p.Lys316Arg) c.836A>G (p.Lys279Arg) c.908A>G (p.Lys303Arg) n.238A>G c.1019A>G (p.Lys340Arg) c.86A>G (p.Lys29Arg) | |
| X | g.55017542T>G | CA413294348 | ALAS2 | c.947A>C (p.Lys316Thr) c.836A>C (p.Lys279Thr) c.908A>C (p.Lys303Thr) n.238A>C c.1019A>C (p.Lys340Thr) c.86A>C (p.Lys29Thr) | |
| X | g.55017543T>A | CA413294349 | ALAS2 | c.946A>T (p.Lys316Ter) c.835A>T (p.Lys279Ter) c.907A>T (p.Lys303Ter) n.237A>T c.1018A>T (p.Lys340Ter) c.85A>T (p.Lys29Ter) | |
| X | g.55017543T>C | CA413294351 | ALAS2 | c.946A>G (p.Lys316Glu) c.835A>G (p.Lys279Glu) c.907A>G (p.Lys303Glu) n.237A>G c.1018A>G (p.Lys340Glu) c.85A>G (p.Lys29Glu) | |
| X | g.55017543T>G | CA413294350 | ALAS2 | c.946A>C (p.Lys316Gln) c.835A>C (p.Lys279Gln) c.907A>C (p.Lys303Gln) n.237A>C c.1018A>C (p.Lys340Gln) c.85A>C (p.Lys29Gln) | |
| X | g.55017544C>A | CA413294352 | ALAS2 | c.945G>T (p.Glu315Asp) c.834G>T (p.Glu278Asp) c.906G>T (p.Glu302Asp) n.236G>T c.1017G>T (p.Glu339Asp) c.84G>T (p.Glu28Asp) | |
| X | g.55017544C>G | CA413294353 | ALAS2 | c.945G>C (p.Glu315Asp) c.834G>C (p.Glu278Asp) c.906G>C (p.Glu302Asp) n.236G>C c.1017G>C (p.Glu339Asp) c.84G>C (p.Glu28Asp) | |
| X | g.55017544C>T | CA516582627 | ALAS2 | c.945G>A (p.Glu315=) c.834G>A (p.Glu278=) c.906G>A (p.Glu302=) n.236G>A c.1017G>A (p.Glu339=) c.84G>A (p.Glu28=) | |
| X | g.55017545T>A | CA413294354 | ALAS2 | c.944A>T (p.Glu315Val) c.833A>T (p.Glu278Val) c.905A>T (p.Glu302Val) n.235A>T c.1016A>T (p.Glu339Val) c.83A>T (p.Glu28Val) | |
| X | g.55017545T>C | CA413294355 | ALAS2 | c.944A>G (p.Glu315Gly) c.833A>G (p.Glu278Gly) c.905A>G (p.Glu302Gly) n.235A>G c.1016A>G (p.Glu339Gly) c.83A>G (p.Glu28Gly) | |
| X | g.55017545T>G | CA413294356 | ALAS2 | c.944A>C (p.Glu315Ala) c.833A>C (p.Glu278Ala) c.905A>C (p.Glu302Ala) n.235A>C c.1016A>C (p.Glu339Ala) c.83A>C (p.Glu28Ala) | |
| X | g.55017546C>A | CA413294357 | ALAS2 | c.943G>T (p.Glu315Ter) c.832G>T (p.Glu278Ter) c.904G>T (p.Glu302Ter) n.234G>T c.1015G>T (p.Glu339Ter) c.82G>T (p.Glu28Ter) | |
| X | g.55017546C>G | CA413294358 | ALAS2 | c.943G>C (p.Glu315Gln) c.832G>C (p.Glu278Gln) c.904G>C (p.Glu302Gln) n.234G>C c.1015G>C (p.Glu339Gln) c.82G>C (p.Glu28Gln) | |
| X | g.55017546C>T | CA413294359 | ALAS2 | c.943G>A (p.Glu315Lys) c.832G>A (p.Glu278Lys) c.904G>A (p.Glu302Lys) n.234G>A c.1015G>A (p.Glu339Lys) c.82G>A (p.Glu28Lys) | |
| X | g.55017547T>A | CA328972016 | ALAS2 | c.942A>T (p.Leu314=) c.831A>T (p.Leu277=) c.903A>T (p.Leu301=) n.233A>T c.1014A>T (p.Leu338=) c.81A>T (p.Leu27=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.55017547T>C | CA10428361 | ALAS2 | c.942A>G (p.Leu314=) c.831A>G (p.Leu277=) c.903A>G (p.Leu301=) n.233A>G c.1014A>G (p.Leu338=) c.81A>G (p.Leu27=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.55017547T>G | CA516582628 | ALAS2 | c.942A>C (p.Leu314=) c.831A>C (p.Leu277=) c.903A>C (p.Leu301=) n.233A>C c.1014A>C (p.Leu338=) c.81A>C (p.Leu27=) | gnomAD v4 |
| X | g.55017547T= | CA2430391383 | ALAS2 | c.942A= (p.Leu314=) c.831A= (p.Leu277=) c.903A= (p.Leu301=) n.233A= c.1014A= (p.Leu338=) c.81A= (p.Leu27=) | |
| X | g.55017548A>C | CA413294360 | ALAS2 | c.941T>G (p.Leu314Arg) c.830T>G (p.Leu277Arg) c.902T>G (p.Leu301Arg) n.232T>G c.1013T>G (p.Leu338Arg) c.80T>G (p.Leu27Arg) | |
| X | g.55017548A>G | CA413294361 | ALAS2 | c.941T>C (p.Leu314Pro) c.830T>C (p.Leu277Pro) c.902T>C (p.Leu301Pro) n.232T>C c.1013T>C (p.Leu338Pro) c.80T>C (p.Leu27Pro) | |
| X | g.55017548A>T | CA413294362 | ALAS2 | c.941T>A (p.Leu314Gln) c.830T>A (p.Leu277Gln) c.902T>A (p.Leu301Gln) n.232T>A c.1013T>A (p.Leu338Gln) c.80T>A (p.Leu27Gln) | |
| X | g.55017549G>A | CA516582630 | ALAS2 | c.940C>T (p.Leu314=) c.829C>T (p.Leu277=) c.901C>T (p.Leu301=) n.231C>T c.1012C>T (p.Leu338=) c.79C>T (p.Leu27=) | |
| X | g.55017549G>C | CA413294363 | ALAS2 | c.940C>G (p.Leu314Val) c.829C>G (p.Leu277Val) c.901C>G (p.Leu301Val) n.231C>G c.1012C>G (p.Leu338Val) c.79C>G (p.Leu27Val) | |
| X | g.55017549G>T | CA413294364 | ALAS2 | c.940C>A (p.Leu314Ile) c.829C>A (p.Leu277Ile) c.901C>A (p.Leu301Ile) n.231C>A c.1012C>A (p.Leu338Ile) c.79C>A (p.Leu27Ile) | |
| X | g.55017550A>C | CA516582631 | ALAS2 | c.939T>G (p.Leu313=) c.828T>G (p.Leu276=) c.900T>G (p.Leu300=) n.230T>G c.1011T>G (p.Leu337=) c.78T>G (p.Leu26=) | |
| X | g.55017550A>G | CA516582632 | ALAS2 | c.939T>C (p.Leu313=) c.828T>C (p.Leu276=) c.900T>C (p.Leu300=) n.230T>C c.1011T>C (p.Leu337=) c.78T>C (p.Leu26=) | |
| X | g.55017550A>T | CA516582633 | ALAS2 | c.939T>A (p.Leu313=) c.828T>A (p.Leu276=) c.900T>A (p.Leu300=) n.230T>A c.1011T>A (p.Leu337=) c.78T>A (p.Leu26=) | gnomAD v4 |
| X | g.55017551A>C | CA413294367 | ALAS2 | c.938T>G (p.Leu313Arg) c.827T>G (p.Leu276Arg) c.899T>G (p.Leu300Arg) n.229T>G c.1010T>G (p.Leu337Arg) c.77T>G (p.Leu26Arg) | gnomAD v4 |
| X | g.55017551A>G | CA413294365 | ALAS2 | c.938T>C (p.Leu313Pro) c.827T>C (p.Leu276Pro) c.899T>C (p.Leu300Pro) n.229T>C c.1010T>C (p.Leu337Pro) c.77T>C (p.Leu26Pro) | |
| X | g.55017551A>T | CA413294366 | ALAS2 | c.938T>A (p.Leu313His) c.827T>A (p.Leu276His) c.899T>A (p.Leu300His) n.229T>A c.1010T>A (p.Leu337His) c.77T>A (p.Leu26His) | |
| X | g.55017552G>A | CA413294368 | ALAS2 | c.937C>T (p.Leu313Phe) c.826C>T (p.Leu276Phe) c.898C>T (p.Leu300Phe) n.228C>T c.1009C>T (p.Leu337Phe) c.76C>T (p.Leu26Phe) | |
| X | g.55017552G>C | CA413294369 | ALAS2 | c.937C>G (p.Leu313Val) c.826C>G (p.Leu276Val) c.898C>G (p.Leu300Val) n.228C>G c.1009C>G (p.Leu337Val) c.76C>G (p.Leu26Val) | |
| X | g.55017552G>T | CA413294370 | ALAS2 | c.937C>A (p.Leu313Ile) c.826C>A (p.Leu276Ile) c.898C>A (p.Leu300Ile) n.228C>A c.1009C>A (p.Leu337Ile) c.76C>A (p.Leu26Ile) | |
| X | g.55017553T>A | CA413294371 | ALAS2 | c.936A>T (p.Lys312Asn) c.825A>T (p.Lys275Asn) c.897A>T (p.Lys299Asn) n.227A>T c.1008A>T (p.Lys336Asn) c.75A>T (p.Lys25Asn) | |
| X | g.55017553T>C | CA516582634 | ALAS2 | c.936A>G (p.Lys312=) c.825A>G (p.Lys275=) c.897A>G (p.Lys299=) n.227A>G c.1008A>G (p.Lys336=) c.75A>G (p.Lys25=) | |
| X | g.55017553T>G | CA10428362 | ALAS2 | c.936A>C (p.Lys312Asn) c.825A>C (p.Lys275Asn) c.897A>C (p.Lys299Asn) n.227A>C c.1008A>C (p.Lys336Asn) c.75A>C (p.Lys25Asn) | dbSNP ExAC gnomAD v2 |
| X | g.55017553T= | CA2430391384 | ALAS2 | c.936A= (p.Lys312=) c.825A= (p.Lys275=) c.897A= (p.Lys299=) n.227A= c.1008A= (p.Lys336=) c.75A= (p.Lys25=) | |
| X | g.55017554T>A | CA413294372 | ALAS2 | c.935A>T (p.Lys312Ile) c.824A>T (p.Lys275Ile) c.896A>T (p.Lys299Ile) n.226A>T c.1007A>T (p.Lys336Ile) c.74A>T (p.Lys25Ile) | |
| X | g.55017554T>C | CA413294373 | ALAS2 | c.935A>G (p.Lys312Arg) c.824A>G (p.Lys275Arg) c.896A>G (p.Lys299Arg) n.226A>G c.1007A>G (p.Lys336Arg) c.74A>G (p.Lys25Arg) | |
| X | g.55017554T>G | CA413294374 | ALAS2 | c.935A>C (p.Lys312Thr) c.824A>C (p.Lys275Thr) c.896A>C (p.Lys299Thr) n.226A>C c.1007A>C (p.Lys336Thr) c.74A>C (p.Lys25Thr) | COSMIC COSMIC COSMIC |
| X | g.55017555T>A | CA413294375 | ALAS2 | c.934A>T (p.Lys312Ter) c.823A>T (p.Lys275Ter) c.895A>T (p.Lys299Ter) n.225A>T c.1006A>T (p.Lys336Ter) c.73A>T (p.Lys25Ter) | |
| X | g.55017555T>C | CA413294376 | ALAS2 | c.934A>G (p.Lys312Glu) c.823A>G (p.Lys275Glu) c.895A>G (p.Lys299Glu) n.225A>G c.1006A>G (p.Lys336Glu) c.73A>G (p.Lys25Glu) | |
| X | g.55017555T>G | CA413294377 | ALAS2 | c.934A>C (p.Lys312Gln) c.823A>C (p.Lys275Gln) c.895A>C (p.Lys299Gln) n.225A>C c.1006A>C (p.Lys336Gln) c.73A>C (p.Lys25Gln) | |
| X | g.55017556C>A | CA413294378 | ALAS2 | c.933G>T (p.Lys311Asn) c.822G>T (p.Lys274Asn) c.894G>T (p.Lys298Asn) n.224G>T c.1005G>T (p.Lys335Asn) c.72G>T (p.Lys24Asn) | COSMIC COSMIC COSMIC |
| X | g.55017556C= | CA2430391385 | ALAS2 | c.933G= (p.Lys311=) c.822G= (p.Lys274=) c.894G= (p.Lys298=) n.224G= c.1005G= (p.Lys335=) c.72G= (p.Lys24=) | |
| X | g.55017556C>G | CA413294379 | ALAS2 | c.933G>C (p.Lys311Asn) c.822G>C (p.Lys274Asn) c.894G>C (p.Lys298Asn) n.224G>C c.1005G>C (p.Lys335Asn) c.72G>C (p.Lys24Asn) | |
| X | g.55017556C>T | CA10428363 | ALAS2 | c.933G>A (p.Lys311=) c.822G>A (p.Lys274=) c.894G>A (p.Lys298=) n.224G>A c.1005G>A (p.Lys335=) c.72G>A (p.Lys24=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.55017557T>A | CA413294380 | ALAS2 | c.932A>T (p.Lys311Met) c.821A>T (p.Lys274Met) c.893A>T (p.Lys298Met) n.223A>T c.1004A>T (p.Lys335Met) c.71A>T (p.Lys24Met) | |
| X | g.55017557T>C | CA413294381 | ALAS2 | c.932A>G (p.Lys311Arg) c.821A>G (p.Lys274Arg) c.893A>G (p.Lys298Arg) n.223A>G c.1004A>G (p.Lys335Arg) c.71A>G (p.Lys24Arg) | |
| X | g.55017557T>G | CA413294382 | ALAS2 | c.932A>C (p.Lys311Thr) c.821A>C (p.Lys274Thr) c.893A>C (p.Lys298Thr) n.223A>C c.1004A>C (p.Lys335Thr) c.71A>C (p.Lys24Thr) | |
| X | g.55017558T>A | CA413294383 | ALAS2 | c.931A>T (p.Lys311Ter) c.820A>T (p.Lys274Ter) c.892A>T (p.Lys298Ter) n.222A>T c.1003A>T (p.Lys335Ter) c.70A>T (p.Lys24Ter) | |
| X | g.55017558T>C | CA413294384 | ALAS2 | c.931A>G (p.Lys311Glu) c.820A>G (p.Lys274Glu) c.892A>G (p.Lys298Glu) n.222A>G c.1003A>G (p.Lys335Glu) c.70A>G (p.Lys24Glu) | |
| X | g.55017558T>G | CA413294385 | ALAS2 | c.931A>C (p.Lys311Gln) c.820A>C (p.Lys274Gln) c.892A>C (p.Lys298Gln) n.222A>C c.1003A>C (p.Lys335Gln) c.70A>C (p.Lys24Gln) | |
| X | g.55017559T>A | CA516582635 | ALAS2 | c.930A>T (p.Leu310=) c.819A>T (p.Leu273=) c.891A>T (p.Leu297=) n.221A>T c.1002A>T (p.Leu334=) c.69A>T (p.Leu23=) | |
| X | g.55017559T>C | CA516582636 | ALAS2 | c.930A>G (p.Leu310=) c.819A>G (p.Leu273=) c.891A>G (p.Leu297=) n.221A>G c.1002A>G (p.Leu334=) c.69A>G (p.Leu23=) | |
| X | g.55017559T>G | CA516582637 | ALAS2 | c.930A>C (p.Leu310=) c.819A>C (p.Leu273=) c.891A>C (p.Leu297=) n.221A>C c.1002A>C (p.Leu334=) c.69A>C (p.Leu23=) | |
| X | g.55017560A>C | CA413294386 | ALAS2 | c.929T>G (p.Leu310Arg) c.818T>G (p.Leu273Arg) c.890T>G (p.Leu297Arg) n.646T>G n.220T>G c.1001T>G (p.Leu334Arg) c.68T>G (p.Leu23Arg) | |
| X | g.55017560A>G | CA413294387 | ALAS2 | c.929T>C (p.Leu310Pro) c.818T>C (p.Leu273Pro) c.890T>C (p.Leu297Pro) n.646T>C n.220T>C c.1001T>C (p.Leu334Pro) c.68T>C (p.Leu23Pro) | |
| X | g.55017560A>T | CA413294388 | ALAS2 | c.929T>A (p.Leu310Gln) c.818T>A (p.Leu273Gln) c.890T>A (p.Leu297Gln) n.646T>A n.220T>A c.1001T>A (p.Leu334Gln) c.68T>A (p.Leu23Gln) | |
| X | g.55017561G>A | CA516582638 | ALAS2 | c.928C>T (p.Leu310=) c.817C>T (p.Leu273=) c.889C>T (p.Leu297=) n.645C>T n.219C>T c.1000C>T (p.Leu334=) c.67C>T (p.Leu23=) | |
| X | g.55017561G>C | CA413294389 | ALAS2 | c.928C>G (p.Leu310Val) c.817C>G (p.Leu273Val) c.889C>G (p.Leu297Val) n.645C>G n.219C>G c.1000C>G (p.Leu334Val) c.67C>G (p.Leu23Val) | |
| X | g.55017561G>T | CA413294390 | ALAS2 | c.928C>A (p.Leu310Ile) c.817C>A (p.Leu273Ile) c.889C>A (p.Leu297Ile) n.645C>A n.219C>A c.1000C>A (p.Leu334Ile) c.67C>A (p.Leu23Ile) | |
| X | g.55017562G>A | CA516582639 | ALAS2 | c.927C>T (p.His309=) c.816C>T (p.His272=) c.888C>T (p.His296=) n.644C>T n.218C>T c.999C>T (p.His333=) c.66C>T (p.His22=) | gnomAD v4 |
| X | g.55017562G>C | CA413294391 | ALAS2 | c.927C>G (p.His309Gln) c.816C>G (p.His272Gln) c.888C>G (p.His296Gln) n.644C>G n.218C>G c.999C>G (p.His333Gln) c.66C>G (p.His22Gln) | |
| X | g.55017562G>T | CA413294392 | ALAS2 | c.927C>A (p.His309Gln) c.816C>A (p.His272Gln) c.888C>A (p.His296Gln) n.644C>A n.218C>A c.999C>A (p.His333Gln) c.66C>A (p.His22Gln) | gnomAD v4 |
| X | g.55017563T>A | CA413294395 | ALAS2 | c.926A>T (p.His309Leu) c.815A>T (p.His272Leu) c.887A>T (p.His296Leu) n.643A>T n.217A>T c.998A>T (p.His333Leu) c.65A>T (p.His22Leu) | |
| X | g.55017563T>C | CA413294394 | ALAS2 | c.926A>G (p.His309Arg) c.815A>G (p.His272Arg) c.887A>G (p.His296Arg) n.643A>G n.217A>G c.998A>G (p.His333Arg) c.65A>G (p.His22Arg) | |
| X | g.55017563T>G | CA413294393 | ALAS2 | c.926A>C (p.His309Pro) c.815A>C (p.His272Pro) c.887A>C (p.His296Pro) n.643A>C n.217A>C c.998A>C (p.His333Pro) c.65A>C (p.His22Pro) | |
| X | g.55017564G>A | CA413294396 | ALAS2 | c.925C>T (p.His309Tyr) c.814C>T (p.His272Tyr) c.886C>T (p.His296Tyr) n.642C>T n.216C>T c.997C>T (p.His333Tyr) c.64C>T (p.His22Tyr) | |
| X | g.55017564G>C | CA413294397 | ALAS2 | c.925C>G (p.His309Asp) c.814C>G (p.His272Asp) c.886C>G (p.His296Asp) n.642C>G n.216C>G c.997C>G (p.His333Asp) c.64C>G (p.His22Asp) | |
| X | g.55017564G>T | CA413294398 | ALAS2 | c.925C>A (p.His309Asn) c.814C>A (p.His272Asn) c.886C>A (p.His296Asn) n.642C>A n.216C>A c.997C>A (p.His333Asn) c.64C>A (p.His22Asn) | |
| X | g.55017565G>A | CA516582640 | ALAS2 | c.924C>T (p.Asp308=) c.813C>T (p.Asp271=) c.885C>T (p.Asp295=) n.641C>T n.215C>T c.996C>T (p.Asp332=) c.63C>T (p.Asp21=) | |
| X | g.55017565G>C | CA413294399 | ALAS2 | c.924C>G (p.Asp308Glu) c.813C>G (p.Asp271Glu) c.885C>G (p.Asp295Glu) n.641C>G n.215C>G c.996C>G (p.Asp332Glu) c.63C>G (p.Asp21Glu) | |
| X | g.55017565G>T | CA413294400 | ALAS2 | c.924C>A (p.Asp308Glu) c.813C>A (p.Asp271Glu) c.885C>A (p.Asp295Glu) n.641C>A n.215C>A c.996C>A (p.Asp332Glu) c.63C>A (p.Asp21Glu) | |
| X | g.55017566T>A | CA413294401 | ALAS2 | c.923A>T (p.Asp308Val) c.812A>T (p.Asp271Val) c.884A>T (p.Asp295Val) n.640A>T n.214A>T c.995A>T (p.Asp332Val) c.62A>T (p.Asp21Val) | |
| X | g.55017566T>C | CA413294402 | ALAS2 | c.923A>G (p.Asp308Gly) c.812A>G (p.Asp271Gly) c.884A>G (p.Asp295Gly) n.640A>G n.214A>G c.995A>G (p.Asp332Gly) c.62A>G (p.Asp21Gly) | |
| X | g.55017566T>G | CA413294403 | ALAS2 | c.923A>C (p.Asp308Ala) c.812A>C (p.Asp271Ala) c.884A>C (p.Asp295Ala) n.640A>C n.214A>C c.995A>C (p.Asp332Ala) c.62A>C (p.Asp21Ala) | |
| X | g.55017567C>A | CA413294404 | ALAS2 | c.922G>T (p.Asp308Tyr) c.811G>T (p.Asp271Tyr) c.883G>T (p.Asp295Tyr) n.639G>T n.213G>T c.994G>T (p.Asp332Tyr) c.61G>T (p.Asp21Tyr) | |
| X | g.55017567C= | CA2430391386 | ALAS2 | c.922G= (p.Asp308=) c.811G= (p.Asp271=) c.883G= (p.Asp295=) n.639G= n.213G= c.994G= (p.Asp332=) c.61G= (p.Asp21=) | |
| X | g.55017567C>G | CA413294405 | ALAS2 | c.922G>C (p.Asp308His) c.811G>C (p.Asp271His) c.883G>C (p.Asp295His) n.639G>C n.213G>C c.994G>C (p.Asp332His) c.61G>C (p.Asp21His) | |
| X | g.55017567C>T | CA328972068 | ALAS2 | c.922G>A (p.Asp308Asn) c.811G>A (p.Asp271Asn) c.883G>A (p.Asp295Asn) n.639G>A n.213G>A c.994G>A (p.Asp332Asn) c.61G>A (p.Asp21Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.55017568A= | CA2430391387 | ALAS2 | c.921T= (p.Pro307=) c.810T= (p.Pro270=) c.882T= (p.Pro294=) n.638T= n.212T= c.993T= (p.Pro331=) c.60T= (p.Pro20=) | |
| X | g.55017568A>C | CA516582641 | ALAS2 | c.921T>G (p.Pro307=) c.810T>G (p.Pro270=) c.882T>G (p.Pro294=) n.638T>G n.212T>G c.993T>G (p.Pro331=) c.60T>G (p.Pro20=) | |
| X | g.55017568A>G | CA10428364 | ALAS2 | c.921T>C (p.Pro307=) c.810T>C (p.Pro270=) c.882T>C (p.Pro294=) n.638T>C n.212T>C c.993T>C (p.Pro331=) c.60T>C (p.Pro20=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.55017568A>T | CA516582642 | ALAS2 | c.921T>A (p.Pro307=) c.810T>A (p.Pro270=) c.882T>A (p.Pro294=) n.638T>A n.212T>A c.993T>A (p.Pro331=) c.60T>A (p.Pro20=) | |
| X | g.55017569G>A | CA413294408 | ALAS2 | c.920C>T (p.Pro307Leu) c.809C>T (p.Pro270Leu) c.881C>T (p.Pro294Leu) n.637C>T n.211C>T c.992C>T (p.Pro331Leu) c.59C>T (p.Pro20Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.55017569G>C | CA413294407 | ALAS2 | c.920C>G (p.Pro307Arg) c.809C>G (p.Pro270Arg) c.881C>G (p.Pro294Arg) n.637C>G n.211C>G c.992C>G (p.Pro331Arg) c.59C>G (p.Pro20Arg) | |
| X | g.55017569G= | CA2430391388 | ALAS2 | c.920C= (p.Pro307=) c.809C= (p.Pro270=) c.881C= (p.Pro294=) n.637C= n.211C= c.992C= (p.Pro331=) c.59C= (p.Pro20=) | |
| X | g.55017569G>T | CA413294406 | ALAS2 | c.920C>A (p.Pro307His) c.809C>A (p.Pro270His) c.881C>A (p.Pro294His) n.637C>A n.211C>A c.992C>A (p.Pro331His) c.59C>A (p.Pro20His) | |
| X | g.55017570G>A | CA413294409 | ALAS2 | c.919C>T (p.Pro307Ser) c.808C>T (p.Pro270Ser) c.880C>T (p.Pro294Ser) n.636C>T n.210C>T c.991C>T (p.Pro331Ser) c.58C>T (p.Pro20Ser) | |
| X | g.55017570G>C | CA413294411 | ALAS2 | c.919C>G (p.Pro307Ala) c.808C>G (p.Pro270Ala) c.880C>G (p.Pro294Ala) n.636C>G n.210C>G c.991C>G (p.Pro331Ala) c.58C>G (p.Pro20Ala) | |
| X | g.55017570G>T | CA413294410 | ALAS2 | c.919C>A (p.Pro307Thr) c.808C>A (p.Pro270Thr) c.880C>A (p.Pro294Thr) n.636C>A n.210C>A c.991C>A (p.Pro331Thr) c.58C>A (p.Pro20Thr) | |
| X | g.55017571G>A | CA516582643 | ALAS2 | c.918C>T (p.Asp306=) c.807C>T (p.Asp269=) c.879C>T (p.Asp293=) n.635C>T n.209C>T c.990C>T (p.Asp330=) c.57C>T (p.Asp19=) | gnomAD v4 |
| X | g.55017571G>C | CA413294412 | ALAS2 | c.918C>G (p.Asp306Glu) c.807C>G (p.Asp269Glu) c.879C>G (p.Asp293Glu) n.635C>G n.209C>G c.990C>G (p.Asp330Glu) c.57C>G (p.Asp19Glu) | |
| X | g.55017571G>T | CA413294413 | ALAS2 | c.918C>A (p.Asp306Glu) c.807C>A (p.Asp269Glu) c.879C>A (p.Asp293Glu) n.635C>A n.209C>A c.990C>A (p.Asp330Glu) c.57C>A (p.Asp19Glu) | gnomAD v4 |
| X | g.55017572T>A | CA413294414 | ALAS2 | c.917A>T (p.Asp306Val) c.806A>T (p.Asp269Val) c.878A>T (p.Asp293Val) n.634A>T n.208A>T c.989A>T (p.Asp330Val) c.56A>T (p.Asp19Val) | |
| X | g.55017572T>C | CA413294415 | ALAS2 | c.917A>G (p.Asp306Gly) c.806A>G (p.Asp269Gly) c.878A>G (p.Asp293Gly) n.634A>G n.208A>G c.989A>G (p.Asp330Gly) c.56A>G (p.Asp19Gly) | |
| X | g.55017572T>G | CA413294416 | ALAS2 | c.917A>C (p.Asp306Ala) c.806A>C (p.Asp269Ala) c.878A>C (p.Asp293Ala) n.634A>C n.208A>C c.989A>C (p.Asp330Ala) c.56A>C (p.Asp19Ala) | |
| X | g.55017573C>A | CA413294417 | ALAS2 | c.916G>T (p.Asp306Tyr) c.805G>T (p.Asp269Tyr) c.877G>T (p.Asp293Tyr) n.633G>T n.207G>T c.988G>T (p.Asp330Tyr) c.55G>T (p.Asp19Tyr) | |
| X | g.55017573C>G | CA413294418 | ALAS2 | c.916G>C (p.Asp306His) c.805G>C (p.Asp269His) c.877G>C (p.Asp293His) n.633G>C n.207G>C c.988G>C (p.Asp330His) c.55G>C (p.Asp19His) | |
| X | g.55017573C>T | CA413294419 | ALAS2 | c.916G>A (p.Asp306Asn) c.805G>A (p.Asp269Asn) c.877G>A (p.Asp293Asn) n.633G>A n.207G>A c.988G>A (p.Asp330Asn) c.55G>A (p.Asp19Asn) | |
| X | g.55017574A>C | CA413294420 | ALAS2 | c.915T>G (p.Asn305Lys) c.804T>G (p.Asn268Lys) c.876T>G (p.Asn292Lys) n.632T>G n.206T>G c.987T>G (p.Asn329Lys) c.54T>G (p.Asn18Lys) | |
| X | g.55017574A>G | CA516582644 | ALAS2 | c.915T>C (p.Asn305=) c.804T>C (p.Asn268=) c.876T>C (p.Asn292=) n.632T>C n.206T>C c.987T>C (p.Asn329=) c.54T>C (p.Asn18=) | |
| X | g.55017574A>T | CA413294421 | ALAS2 | c.915T>A (p.Asn305Lys) c.804T>A (p.Asn268Lys) c.876T>A (p.Asn292Lys) n.632T>A n.206T>A c.987T>A (p.Asn329Lys) c.54T>A (p.Asn18Lys) | |
| X | g.55017575T>A | CA413294422 | ALAS2 | c.914A>T (p.Asn305Ile) c.803A>T (p.Asn268Ile) c.875A>T (p.Asn292Ile) n.631A>T n.205A>T c.986A>T (p.Asn329Ile) c.53A>T (p.Asn18Ile) | |
| X | g.55017575T>C | CA413294424 | ALAS2 | c.914A>G (p.Asn305Ser) c.803A>G (p.Asn268Ser) c.875A>G (p.Asn292Ser) n.631A>G n.205A>G c.986A>G (p.Asn329Ser) c.53A>G (p.Asn18Ser) | |
| X | g.55017575T>G | CA413294423 | ALAS2 | c.914A>C (p.Asn305Thr) c.803A>C (p.Asn268Thr) c.875A>C (p.Asn292Thr) n.631A>C n.205A>C c.986A>C (p.Asn329Thr) c.53A>C (p.Asn18Thr) | |
| X | g.55017576T>A | CA413294425 | ALAS2 | c.913A>T (p.Asn305Tyr) c.802A>T (p.Asn268Tyr) c.874A>T (p.Asn292Tyr) n.630A>T n.204A>T c.985A>T (p.Asn329Tyr) c.52A>T (p.Asn18Tyr) | |
| X | g.55017576T>C | CA413294426 | ALAS2 | c.913A>G (p.Asn305Asp) c.802A>G (p.Asn268Asp) c.874A>G (p.Asn292Asp) n.630A>G n.204A>G c.985A>G (p.Asn329Asp) c.52A>G (p.Asn18Asp) | |
| X | g.55017576T>G | CA413294427 | ALAS2 | c.913A>C (p.Asn305His) c.802A>C (p.Asn268His) c.874A>C (p.Asn292His) n.630A>C n.204A>C c.985A>C (p.Asn329His) c.52A>C (p.Asn18His) | |
| X | g.55017577G>A | CA328972100 | ALAS2 | c.912C>T (p.His304=) c.801C>T (p.His267=) c.873C>T (p.His291=) n.629C>T n.203C>T c.984C>T (p.His328=) c.51C>T (p.His17=) | ClinVar dbSNP gnomAD v4 |
| X | g.55017577G>C | CA413294428 | ALAS2 | c.912C>G (p.His304Gln) c.801C>G (p.His267Gln) c.873C>G (p.His291Gln) n.629C>G n.203C>G c.984C>G (p.His328Gln) c.51C>G (p.His17Gln) | gnomAD v4 |
| X | g.55017577G= | CA2430391389 | ALAS2 | c.912C= (p.His304=) c.801C= (p.His267=) c.873C= (p.His291=) n.629C= n.203C= c.984C= (p.His328=) c.51C= (p.His17=) | |
| X | g.55017577G>T | CA413294429 | ALAS2 | c.912C>A (p.His304Gln) c.801C>A (p.His267Gln) c.873C>A (p.His291Gln) n.629C>A n.203C>A c.984C>A (p.His328Gln) c.51C>A (p.His17Gln) | |
| X | g.55017578T>A | CA413294430 | ALAS2 | c.911A>T (p.His304Leu) c.800A>T (p.His267Leu) c.872A>T (p.His291Leu) n.628A>T n.202A>T c.983A>T (p.His328Leu) c.50A>T (p.His17Leu) | |
| X | g.55017578T>C | CA413294432 | ALAS2 | c.911A>G (p.His304Arg) c.800A>G (p.His267Arg) c.872A>G (p.His291Arg) n.628A>G n.202A>G c.983A>G (p.His328Arg) c.50A>G (p.His17Arg) | |
| X | g.55017578T>G | CA413294431 | ALAS2 | c.911A>C (p.His304Pro) c.800A>C (p.His267Pro) c.872A>C (p.His291Pro) n.628A>C n.202A>C c.983A>C (p.His328Pro) c.50A>C (p.His17Pro) | |
| X | g.55017579G>A | CA413294433 | ALAS2 | c.910C>T (p.His304Tyr) c.799C>T (p.His267Tyr) c.871C>T (p.His291Tyr) n.627C>T n.201C>T c.982C>T (p.His328Tyr) c.49C>T (p.His17Tyr) | |
| X | g.55017579G>C | CA413294434 | ALAS2 | c.910C>G (p.His304Asp) c.799C>G (p.His267Asp) c.871C>G (p.His291Asp) n.627C>G n.201C>G c.982C>G (p.His328Asp) c.49C>G (p.His17Asp) | |
| X | g.55017579G>T | CA413294435 | ALAS2 | c.910C>A (p.His304Asn) c.799C>A (p.His267Asn) c.871C>A (p.His291Asn) n.627C>A n.201C>A c.982C>A (p.His328Asn) c.49C>A (p.His17Asn) | |
| X | g.55017580C>A | CA413294436 | ALAS2 | c.909G>T (p.Arg303Ser) c.798G>T (p.Arg266Ser) c.870G>T (p.Arg290Ser) n.626G>T n.200G>T c.981G>T (p.Arg327Ser) c.48G>T (p.Arg16Ser) | |
| X | g.55017580C>G | CA413294437 | ALAS2 | c.909G>C (p.Arg303Ser) c.798G>C (p.Arg266Ser) c.870G>C (p.Arg290Ser) n.626G>C n.200G>C c.981G>C (p.Arg327Ser) c.48G>C (p.Arg16Ser) | |
| X | g.55017580C>T | CA516582645 | ALAS2 | c.909G>A (p.Arg303=) c.798G>A (p.Arg266=) c.870G>A (p.Arg290=) n.626G>A n.200G>A c.981G>A (p.Arg327=) c.48G>A (p.Arg16=) | |
| X | g.55017581C>A | CA413294438 | ALAS2 | c.908G>T (p.Arg303Met) c.797G>T (p.Arg266Met) c.869G>T (p.Arg290Met) n.625G>T n.199G>T c.980G>T (p.Arg327Met) c.47G>T (p.Arg16Met) | |
| X | g.55017581C>G | CA413294439 | ALAS2 | c.908G>C (p.Arg303Thr) c.797G>C (p.Arg266Thr) c.869G>C (p.Arg290Thr) n.625G>C n.199G>C c.980G>C (p.Arg327Thr) c.47G>C (p.Arg16Thr) | |
| X | g.55017581C>T | CA413294441 | ALAS2 | c.908G>A (p.Arg303Lys) c.797G>A (p.Arg266Lys) c.869G>A (p.Arg290Lys) n.625G>A n.199G>A c.980G>A (p.Arg327Lys) c.47G>A (p.Arg16Lys) | |
| X | g.55017582T>A | CA413294443 | ALAS2 | c.907A>T (p.Arg303Trp) c.796A>T (p.Arg266Trp) c.868A>T (p.Arg290Trp) n.624A>T n.198A>T c.979A>T (p.Arg327Trp) c.46A>T (p.Arg16Trp) | |
| X | g.55017582T>C | CA413294445 | ALAS2 | c.907A>G (p.Arg303Gly) c.796A>G (p.Arg266Gly) c.868A>G (p.Arg290Gly) n.624A>G n.198A>G c.979A>G (p.Arg327Gly) c.46A>G (p.Arg16Gly) | dbSNP gnomAD v4 |
| X | g.55017582T>G | CA516582647 | ALAS2 | c.907A>C (p.Arg303=) c.796A>C (p.Arg266=) c.868A>C (p.Arg290=) n.624A>C n.198A>C c.979A>C (p.Arg327=) c.46A>C (p.Arg16=) | |
| X | g.55017582T= | CA2430391390 | ALAS2 | c.907A= (p.Arg303=) c.796A= (p.Arg266=) c.868A= (p.Arg290=) n.624A= n.198A= c.979A= (p.Arg327=) c.46A= (p.Arg16=) | |
| X | g.55017582_55017590delinsTGAAGACAA | CA2430391391 | ALAS2 | c.899_907delinsTTGTCTTCA (p.Phe300=) c.788_796delinsTTGTCTTCA (p.Phe263=) c.860_868delinsTTGTCTTCA (p.Phe287=) n.616_624delinsTTGTCTTCA n.190_198delinsTTGTCTTCA c.971_979delinsTTGTCTTCA (p.Phe324=) c.38_46delinsTTGTCTTCA (p.Phe13=) | |
| X | g.55017583G>A | CA516582648 | ALAS2 | c.906C>T (p.Phe302=) c.795C>T (p.Phe265=) c.867C>T (p.Phe289=) n.623C>T n.197C>T c.978C>T (p.Phe326=) c.45C>T (p.Phe15=) | |
| X | g.55017583G>C | CA413294446 | ALAS2 | c.906C>G (p.Phe302Leu) c.795C>G (p.Phe265Leu) c.867C>G (p.Phe289Leu) n.623C>G n.197C>G c.978C>G (p.Phe326Leu) c.45C>G (p.Phe15Leu) | |
| X | g.55017583G>T | CA413294448 | ALAS2 | c.906C>A (p.Phe302Leu) c.795C>A (p.Phe265Leu) c.867C>A (p.Phe289Leu) n.623C>A n.197C>A c.978C>A (p.Phe326Leu) c.45C>A (p.Phe15Leu) | |
| X | g.55017583_55017590del | CA1133279177 | ALAS2 | c.899_906del (p.Phe300Ter) c.788_795del (p.Phe263Ter) c.860_867del (p.Phe287Ter) n.616_623del n.190_197del c.971_978del (p.Phe324Ter) c.38_45del (p.Phe13Ter) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.55017584A>C | CA413294450 | ALAS2 | c.905T>G (p.Phe302Cys) c.794T>G (p.Phe265Cys) c.866T>G (p.Phe289Cys) n.622T>G n.196T>G c.977T>G (p.Phe326Cys) c.44T>G (p.Phe15Cys) | |
| X | g.55017584A>G | CA413294453 | ALAS2 | c.905T>C (p.Phe302Ser) c.794T>C (p.Phe265Ser) c.866T>C (p.Phe289Ser) n.622T>C n.196T>C c.977T>C (p.Phe326Ser) c.44T>C (p.Phe15Ser) | |
| X | g.55017584A>T | CA413294452 | ALAS2 | c.905T>A (p.Phe302Tyr) c.794T>A (p.Phe265Tyr) c.866T>A (p.Phe289Tyr) n.622T>A n.196T>A c.977T>A (p.Phe326Tyr) c.44T>A (p.Phe15Tyr) | |
| X | g.55017585A>C | CA413294455 | ALAS2 | c.904T>G (p.Phe302Val) c.793T>G (p.Phe265Val) c.865T>G (p.Phe289Val) n.621T>G n.195T>G c.976T>G (p.Phe326Val) c.43T>G (p.Phe15Val) | |
| X | g.55017585A>G | CA413294457 | ALAS2 | c.904T>C (p.Phe302Leu) c.793T>C (p.Phe265Leu) c.865T>C (p.Phe289Leu) n.621T>C n.195T>C c.976T>C (p.Phe326Leu) c.43T>C (p.Phe15Leu) | |
| X | g.55017585A>T | CA413294459 | ALAS2 | c.904T>A (p.Phe302Ile) c.793T>A (p.Phe265Ile) c.865T>A (p.Phe289Ile) n.621T>A n.195T>A c.976T>A (p.Phe326Ile) c.43T>A (p.Phe15Ile) | |
| X | g.55017586G>A | CA516582649 | ALAS2 | c.903C>T (p.Val301=) c.792C>T (p.Val264=) c.864C>T (p.Val288=) n.620C>T n.194C>T c.975C>T (p.Val325=) c.42C>T (p.Val14=) | |
| X | g.55017586G>C | CA516582650 | ALAS2 | c.903C>G (p.Val301=) c.792C>G (p.Val264=) c.864C>G (p.Val288=) n.620C>G n.194C>G c.975C>G (p.Val325=) c.42C>G (p.Val14=) | |
| X | g.55017586G>T | CA516582651 | ALAS2 | c.903C>A (p.Val301=) c.792C>A (p.Val264=) c.864C>A (p.Val288=) n.620C>A n.194C>A c.975C>A (p.Val325=) c.42C>A (p.Val14=) | |
| X | g.55017587A>C | CA413294460 | ALAS2 | c.902T>G (p.Val301Gly) c.791T>G (p.Val264Gly) c.863T>G (p.Val288Gly) n.619T>G n.193T>G c.974T>G (p.Val325Gly) c.41T>G (p.Val14Gly) | |
| X | g.55017587A>G | CA413294462 | ALAS2 | c.902T>C (p.Val301Ala) c.791T>C (p.Val264Ala) c.863T>C (p.Val288Ala) n.619T>C n.193T>C c.974T>C (p.Val325Ala) c.41T>C (p.Val14Ala) | |
| X | g.55017587A>T | CA413294464 | ALAS2 | c.902T>A (p.Val301Asp) c.791T>A (p.Val264Asp) c.863T>A (p.Val288Asp) n.619T>A n.193T>A c.974T>A (p.Val325Asp) c.41T>A (p.Val14Asp) | |
| X | g.55017588C>A | CA413294469 | ALAS2 | c.901G>T (p.Val301Phe) c.790G>T (p.Val264Phe) c.862G>T (p.Val288Phe) n.618G>T n.192G>T c.973G>T (p.Val325Phe) c.40G>T (p.Val14Phe) | |
| X | g.55017588C= | CA2430391392 | ALAS2 | c.901G= (p.Val301=) c.790G= (p.Val264=) c.862G= (p.Val288=) n.618G= n.192G= c.973G= (p.Val325=) c.40G= (p.Val14=) | |
| X | g.55017588C>G | CA413294466 | ALAS2 | c.901G>C (p.Val301Leu) c.790G>C (p.Val264Leu) c.862G>C (p.Val288Leu) n.618G>C n.192G>C c.973G>C (p.Val325Leu) c.40G>C (p.Val14Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.55017588C>T | CA413294467 | ALAS2 | c.901G>A (p.Val301Ile) c.790G>A (p.Val264Ile) c.862G>A (p.Val288Ile) n.618G>A n.192G>A c.973G>A (p.Val325Ile) c.40G>A (p.Val14Ile) | |
| X | g.55017589A>C | CA413294471 | ALAS2 | c.900T>G (p.Phe300Leu) c.789T>G (p.Phe263Leu) c.861T>G (p.Phe287Leu) n.617T>G n.191T>G c.972T>G (p.Phe324Leu) c.39T>G (p.Phe13Leu) | |
| X | g.55017589A>G | CA516582652 | ALAS2 | c.900T>C (p.Phe300=) c.789T>C (p.Phe263=) c.861T>C (p.Phe287=) n.617T>C n.191T>C c.972T>C (p.Phe324=) c.39T>C (p.Phe13=) | |
| X | g.55017589A>T | CA413294473 | ALAS2 | c.900T>A (p.Phe300Leu) c.789T>A (p.Phe263Leu) c.861T>A (p.Phe287Leu) n.617T>A n.191T>A c.972T>A (p.Phe324Leu) c.39T>A (p.Phe13Leu) | |
| X | g.55017590A>C | CA413294474 | ALAS2 | c.899T>G (p.Phe300Cys) c.788T>G (p.Phe263Cys) c.860T>G (p.Phe287Cys) n.616T>G n.190T>G c.971T>G (p.Phe324Cys) c.38T>G (p.Phe13Cys) | |
| X | g.55017590A>G | CA413294475 | ALAS2 | c.899T>C (p.Phe300Ser) c.788T>C (p.Phe263Ser) c.860T>C (p.Phe287Ser) n.616T>C n.190T>C c.971T>C (p.Phe324Ser) c.38T>C (p.Phe13Ser) | |
| X | g.55017590A>T | CA413294478 | ALAS2 | c.899T>A (p.Phe300Tyr) c.788T>A (p.Phe263Tyr) c.860T>A (p.Phe287Tyr) n.616T>A n.190T>A c.971T>A (p.Phe324Tyr) c.38T>A (p.Phe13Tyr) | |
| X | g.55017591A>C | CA413294479 | ALAS2 | c.898T>G (p.Phe300Val) c.787T>G (p.Phe263Val) c.859T>G (p.Phe287Val) n.615T>G n.189T>G c.970T>G (p.Phe324Val) c.37T>G (p.Phe13Val) | |
| X | g.55017591A>G | CA413294482 | ALAS2 | c.898T>C (p.Phe300Leu) c.787T>C (p.Phe263Leu) c.859T>C (p.Phe287Leu) n.615T>C n.189T>C c.970T>C (p.Phe324Leu) c.37T>C (p.Phe13Leu) | |
| X | g.55017591A>T | CA413294481 | ALAS2 | c.898T>A (p.Phe300Ile) c.787T>A (p.Phe263Ile) c.859T>A (p.Phe287Ile) n.615T>A n.189T>A c.970T>A (p.Phe324Ile) c.37T>A (p.Phe13Ile) | |
| X | g.55017592C>A | CA413294484 | ALAS2 | c.897G>T (p.Lys299Asn) c.786G>T (p.Lys262Asn) c.858G>T (p.Lys286Asn) n.614G>T n.188G>T c.969G>T (p.Lys323Asn) c.36G>T (p.Lys12Asn) | |
| X | g.55017592C>G | CA413294485 | ALAS2 | c.897G>C (p.Lys299Asn) c.786G>C (p.Lys262Asn) c.858G>C (p.Lys286Asn) n.614G>C n.188G>C c.969G>C (p.Lys323Asn) c.36G>C (p.Lys12Asn) | |
| X | g.55017592C>T | CA516582653 | ALAS2 | c.897G>A (p.Lys299=) c.786G>A (p.Lys262=) c.858G>A (p.Lys286=) n.614G>A n.188G>A c.969G>A (p.Lys323=) c.36G>A (p.Lys12=) | |
| X | g.55017593T>A | CA413294486 | ALAS2 | c.896A>T (p.Lys299Met) c.785A>T (p.Lys262Met) c.857A>T (p.Lys286Met) n.613A>T n.187A>T c.968A>T (p.Lys323Met) c.35A>T (p.Lys12Met) | |
| X | g.55017593T>C | CA413294488 | ALAS2 | c.896A>G (p.Lys299Arg) c.785A>G (p.Lys262Arg) c.857A>G (p.Lys286Arg) n.613A>G n.187A>G c.968A>G (p.Lys323Arg) c.35A>G (p.Lys12Arg) | |
| X | g.55017593T>G | CA413294490 | ALAS2 | c.896A>C (p.Lys299Thr) c.785A>C (p.Lys262Thr) c.857A>C (p.Lys286Thr) n.613A>C n.187A>C c.968A>C (p.Lys323Thr) c.35A>C (p.Lys12Thr) | COSMIC COSMIC COSMIC |
| X | g.55017594T>A | CA413294491 | ALAS2 | c.895A>T (p.Lys299Ter) c.784A>T (p.Lys262Ter) c.856A>T (p.Lys286Ter) n.612A>T n.186A>T c.967A>T (p.Lys323Ter) c.34A>T (p.Lys12Ter) | |
| X | g.55017594T>C | CA413294493 | ALAS2 | c.895A>G (p.Lys299Glu) c.784A>G (p.Lys262Glu) c.856A>G (p.Lys286Glu) n.612A>G n.186A>G c.967A>G (p.Lys323Glu) c.34A>G (p.Lys12Glu) | |
| X | g.55017594T>G | CA121081 | ALAS2 | c.895A>C (p.Lys299Gln) c.784A>C (p.Lys262Gln) c.856A>C (p.Lys286Gln) n.612A>C n.186A>C c.967A>C (p.Lys323Gln) c.34A>C (p.Lys12Gln) | ClinVar dbSNP |
| X | g.55017594T= | CA2430391393 | ALAS2 | c.895A= (p.Lys299=) c.784A= (p.Lys262=) c.856A= (p.Lys286=) n.612A= n.186A= c.967A= (p.Lys323=) c.34A= (p.Lys12=) | |
| X | g.55017595G>A | CA516582655 | ALAS2 | c.894C>T (p.Ala298=) c.783C>T (p.Ala261=) c.855C>T (p.Ala285=) n.611C>T n.185C>T c.966C>T (p.Ala322=) c.33C>T (p.Ala11=) | |
| X | g.55017595G>C | CA516582656 | ALAS2 | c.894C>G (p.Ala298=) c.783C>G (p.Ala261=) c.855C>G (p.Ala285=) n.611C>G n.185C>G c.966C>G (p.Ala322=) c.33C>G (p.Ala11=) | |
| X | g.55017595G>T | CA516582657 | ALAS2 | c.894C>A (p.Ala298=) c.783C>A (p.Ala261=) c.855C>A (p.Ala285=) n.611C>A n.185C>A c.966C>A (p.Ala322=) c.33C>A (p.Ala11=) | |
| X | g.55017596G>A | CA413294496 | ALAS2 | c.893C>T (p.Ala298Val) c.782C>T (p.Ala261Val) c.854C>T (p.Ala285Val) n.610C>T n.184C>T c.965C>T (p.Ala322Val) c.32C>T (p.Ala11Val) | |
| X | g.55017596G>C | CA413294497 | ALAS2 | c.893C>G (p.Ala298Gly) c.782C>G (p.Ala261Gly) c.854C>G (p.Ala285Gly) n.610C>G n.184C>G c.965C>G (p.Ala322Gly) c.32C>G (p.Ala11Gly) | |
| X | g.55017596G>T | CA413294499 | ALAS2 | c.893C>A (p.Ala298Asp) c.782C>A (p.Ala261Asp) c.854C>A (p.Ala285Asp) n.610C>A n.184C>A c.965C>A (p.Ala322Asp) c.32C>A (p.Ala11Asp) | |
| X | g.55017597C>A | CA413294501 | ALAS2 | c.892G>T (p.Ala298Ser) c.781G>T (p.Ala261Ser) c.853G>T (p.Ala285Ser) n.609G>T n.183G>T c.964G>T (p.Ala322Ser) c.31G>T (p.Ala11Ser) | |
| X | g.55017597C>G | CA413294504 | ALAS2 | c.892G>C (p.Ala298Pro) c.781G>C (p.Ala261Pro) c.853G>C (p.Ala285Pro) n.609G>C n.183G>C c.964G>C (p.Ala322Pro) c.31G>C (p.Ala11Pro) | |
| X | g.55017597C>T | CA413294502 | ALAS2 | c.892G>A (p.Ala298Thr) c.781G>A (p.Ala261Thr) c.853G>A (p.Ala285Thr) n.609G>A n.183G>A c.964G>A (p.Ala322Thr) c.31G>A (p.Ala11Thr) | gnomAD v4 |
| X | g.55017598T>A | CA10428365 | ALAS2 | c.891A>T (p.Ala297=) c.780A>T (p.Ala260=) c.852A>T (p.Ala284=) n.608A>T n.182A>T c.963A>T (p.Ala321=) c.30A>T (p.Ala10=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.55017598T>C | CA516582659 | ALAS2 | c.891A>G (p.Ala297=) c.780A>G (p.Ala260=) c.852A>G (p.Ala284=) n.608A>G n.182A>G c.963A>G (p.Ala321=) c.30A>G (p.Ala10=) | gnomAD v4 |
| X | g.55017598T>G | CA516582658 | ALAS2 | c.891A>C (p.Ala297=) c.780A>C (p.Ala260=) c.852A>C (p.Ala284=) n.608A>C n.182A>C c.963A>C (p.Ala321=) c.30A>C (p.Ala10=) | |
| X | g.55017598T= | CA2430391394 | ALAS2 | c.891A= (p.Ala297=) c.780A= (p.Ala260=) c.852A= (p.Ala284=) n.608A= n.182A= c.963A= (p.Ala321=) c.30A= (p.Ala10=) | |
| X | g.55017599G>A | CA413294506 | ALAS2 | c.890C>T (p.Ala297Val) c.779C>T (p.Ala260Val) c.851C>T (p.Ala284Val) n.607C>T n.181C>T c.962C>T (p.Ala321Val) c.29C>T (p.Ala10Val) | |
| X | g.55017599G>C | CA413294508 | ALAS2 | c.890C>G (p.Ala297Gly) c.779C>G (p.Ala260Gly) c.851C>G (p.Ala284Gly) n.607C>G n.181C>G c.962C>G (p.Ala321Gly) c.29C>G (p.Ala10Gly) | |
| X | g.55017599G>T | CA413294510 | ALAS2 | c.890C>A (p.Ala297Glu) c.779C>A (p.Ala260Glu) c.851C>A (p.Ala284Glu) n.607C>A n.181C>A c.962C>A (p.Ala321Glu) c.29C>A (p.Ala10Glu) | |
| X | g.55017600C>A | CA413294511 | ALAS2 | c.889G>T (p.Ala297Ser) c.778G>T (p.Ala260Ser) c.850G>T (p.Ala284Ser) n.606G>T n.180G>T c.961G>T (p.Ala321Ser) c.28G>T (p.Ala10Ser) | COSMIC COSMIC COSMIC |
| X | g.55017600C>G | CA413294513 | ALAS2 | c.889G>C (p.Ala297Pro) c.778G>C (p.Ala260Pro) c.850G>C (p.Ala284Pro) n.606G>C n.180G>C c.961G>C (p.Ala321Pro) c.28G>C (p.Ala10Pro) | |
| X | g.55017600C>T | CA413294515 | ALAS2 | c.889G>A (p.Ala297Thr) c.778G>A (p.Ala260Thr) c.850G>A (p.Ala284Thr) n.606G>A n.180G>A c.961G>A (p.Ala321Thr) c.28G>A (p.Ala10Thr) | gnomAD v4 |
| X | g.55017601T>A | CA516582661 | ALAS2 | c.888A>T (p.Gly296=) c.777A>T (p.Gly259=) c.849A>T (p.Gly283=) n.605A>T n.179A>T c.960A>T (p.Gly320=) c.27A>T (p.Gly9=) | COSMIC COSMIC COSMIC |
| X | g.55017601T>C | CA328972124 | ALAS2 | c.888A>G (p.Gly296=) c.777A>G (p.Gly259=) c.849A>G (p.Gly283=) n.605A>G n.179A>G c.960A>G (p.Gly320=) c.27A>G (p.Gly9=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.55017601T>G | CA516582662 | ALAS2 | c.888A>C (p.Gly296=) c.777A>C (p.Gly259=) c.849A>C (p.Gly283=) n.605A>C n.179A>C c.960A>C (p.Gly320=) c.27A>C (p.Gly9=) | |
| X | g.55017601T= | CA2430391395 | ALAS2 | c.888A= (p.Gly296=) c.777A= (p.Gly259=) c.849A= (p.Gly283=) n.605A= n.179A= c.960A= (p.Gly320=) c.27A= (p.Gly9=) | |
| X | g.55017602C>A | CA413294521 | ALAS2 | c.887G>T (p.Gly296Val) c.776G>T (p.Gly259Val) c.848G>T (p.Gly283Val) n.604G>T n.178G>T c.959G>T (p.Gly320Val) c.26G>T (p.Gly9Val) | |
| X | g.55017602C= | CA2430391396 | ALAS2 | c.887G= (p.Gly296=) c.776G= (p.Gly259=) c.848G= (p.Gly283=) n.604G= n.178G= c.959G= (p.Gly320=) c.26G= (p.Gly9=) | |
| X | g.55017602C>G | CA413294517 | ALAS2 | c.887G>C (p.Gly296Ala) c.776G>C (p.Gly259Ala) c.848G>C (p.Gly283Ala) n.604G>C n.178G>C c.959G>C (p.Gly320Ala) c.26G>C (p.Gly9Ala) | |
| X | g.55017602C>T | CA413294519 | ALAS2 | c.887G>A (p.Gly296Glu) c.776G>A (p.Gly259Glu) c.848G>A (p.Gly283Glu) n.604G>A n.178G>A c.959G>A (p.Gly320Glu) c.26G>A (p.Gly9Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.55017603C>A | CA413294522 | ALAS2 | c.886G>T (p.Gly296Ter) c.775G>T (p.Gly259Ter) c.847G>T (p.Gly283Ter) n.603G>T n.177G>T c.958G>T (p.Gly320Ter) c.25G>T (p.Gly9Ter) | |
| X | g.55017603C= | CA2430391397 | ALAS2 | c.886G= (p.Gly296=) c.775G= (p.Gly259=) c.847G= (p.Gly283=) n.603G= n.177G= c.958G= (p.Gly320=) c.25G= (p.Gly9=) | |
| X | g.55017603C>G | CA413294523 | ALAS2 | c.886G>C (p.Gly296Arg) c.775G>C (p.Gly259Arg) c.847G>C (p.Gly283Arg) n.603G>C n.177G>C c.958G>C (p.Gly320Arg) c.25G>C (p.Gly9Arg) | |
| X | g.55017603C>T | CA10428366 | ALAS2 | c.886G>A (p.Gly296Arg) c.775G>A (p.Gly259Arg) c.847G>A (p.Gly283Arg) n.603G>A n.177G>A c.958G>A (p.Gly320Arg) c.25G>A (p.Gly9Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.55017604A>C | CA413294525 | ALAS2 | c.885T>G (p.Ser295Arg) c.774T>G (p.Ser258Arg) c.846T>G (p.Ser282Arg) n.602T>G n.176T>G c.957T>G (p.Ser319Arg) c.24T>G (p.Ser8Arg) | |
| X | g.55017604A>G | CA516582663 | ALAS2 | c.885T>C (p.Ser295=) c.774T>C (p.Ser258=) c.846T>C (p.Ser282=) n.602T>C n.176T>C c.957T>C (p.Ser319=) c.24T>C (p.Ser8=) | gnomAD v4 |
| X | g.55017604A>T | CA413294527 | ALAS2 | c.885T>A (p.Ser295Arg) c.774T>A (p.Ser258Arg) c.846T>A (p.Ser282Arg) n.602T>A n.176T>A c.957T>A (p.Ser319Arg) c.24T>A (p.Ser8Arg) | |
| X | g.55017605C>A | CA413294528 | ALAS2 | c.884G>T (p.Ser295Ile) c.773G>T (p.Ser258Ile) c.845G>T (p.Ser282Ile) n.601G>T n.175G>T c.956G>T (p.Ser319Ile) c.23G>T (p.Ser8Ile) | |
| X | g.55017605C>G | CA413294531 | ALAS2 | c.884G>C (p.Ser295Thr) c.773G>C (p.Ser258Thr) c.845G>C (p.Ser282Thr) n.601G>C n.175G>C c.956G>C (p.Ser319Thr) c.23G>C (p.Ser8Thr) | |
| X | g.55017605C>T | CA413294530 | ALAS2 | c.884G>A (p.Ser295Asn) c.773G>A (p.Ser258Asn) c.845G>A (p.Ser282Asn) n.601G>A n.175G>A c.956G>A (p.Ser319Asn) c.23G>A (p.Ser8Asn) | |
| X | g.55017606T>A | CA413294533 | ALAS2 | c.883A>T (p.Ser295Cys) c.772A>T (p.Ser258Cys) c.844A>T (p.Ser282Cys) n.600A>T n.174A>T c.955A>T (p.Ser319Cys) c.22A>T (p.Ser8Cys) | |
| X | g.55017606T>C | CA413294534 | ALAS2 | c.883A>G (p.Ser295Gly) c.772A>G (p.Ser258Gly) c.844A>G (p.Ser282Gly) n.600A>G n.174A>G c.955A>G (p.Ser319Gly) c.22A>G (p.Ser8Gly) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.55017606T>G | CA413294535 | ALAS2 | c.883A>C (p.Ser295Arg) c.772A>C (p.Ser258Arg) c.844A>C (p.Ser282Arg) n.600A>C n.174A>C c.955A>C (p.Ser319Arg) c.22A>C (p.Ser8Arg) | |
| X | g.55017606T= | CA2430391398 | ALAS2 | c.883A= (p.Ser295=) c.772A= (p.Ser258=) c.844A= (p.Ser282=) n.600A= n.174A= c.955A= (p.Ser319=) c.22A= (p.Ser8=) |