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 |
|---|---|---|---|---|---|
| 9 | g.133351854_133351887del | CA2692367361 | SURF1 | c.*32_*65del (n.*32_*65del) | gnomAD v4 |
| 9 | g.133351883T>C | CA860706738 | SURF1 | c.*30A>G (n.*30A>G) n.923A>G | dbSNP gnomAD v4 |
| 9 | g.133351883T= | CA1882632736 | SURF1 | c.*30A= (n.*30A=) n.923A= | |
| 9 | g.133351884C>A | CA2692367487 | SURF1 | c.*29G>T (n.*29G>T) n.922G>T | gnomAD v4 |
| 9 | g.133351884C= | CA1882632738 | SURF1 | c.*29G= (n.*29G=) n.922G= | |
| 9 | g.133351884C>G | CA1882632740 | SURF1 | c.*29G>C (n.*29G>C) n.922G>C | dbSNP gnomAD v4 |
| 9 | g.133351884C>T | CA860706743 | SURF1 | c.*29G>A (n.*29G>A) n.922G>A | dbSNP dbSNP gnomAD v4 |
| 9 | g.133351884_133351890delinsCCAGGGA | CA1882632737 | SURF1 | c.*23_*29delinsTCCCTGG (n.*23_*29delinsTCCCTGG) n.916_922delinsTCCCTGG | |
| 9 | g.133351885C>T | CA2692367513 | SURF1 | c.*28G>A (n.*28G>A) n.921G>A | gnomAD v4 |
| 9 | g.133351890_133351895del | CA375693281 | SURF1 | c.*23_*28del (n.*23_*28del) n.916_921del | dbSNP dbSNP gnomAD v4 |
| 9 | g.133351886A= | CA1882632742 | SURF1 | c.*27T= (n.*27T=) n.920T= | |
| 9 | g.133351886A>C | CA200831833 | SURF1 | c.*27T>G (n.*27T>G) n.920T>G | dbSNP |
| 9 | g.133351887G>T | CA2692367515 | SURF1 | c.*26C>A (n.*26C>A) n.919C>A | gnomAD v4 |
| 9 | g.133351888G>A | CA200831834 | SURF1 | c.*25C>T (n.*25C>T) n.918C>T | dbSNP gnomAD v4 |
| 9 | g.133351888G= | CA1882632745 | SURF1 | c.*25C= (n.*25C=) n.918C= | |
| 9 | g.133351889G>T | CA2692367520 | SURF1 | c.*24C>A (n.*24C>A) n.917C>A | gnomAD v4 |
| 9 | g.133351891C>G | CA2692367521 | SURF1 | c.*22G>C (n.*22G>C) n.915G>C | gnomAD v4 |
| 9 | g.133351891_133351893delinsCAG | CA1882632747 | SURF1 | c.*20_*22delinsCTG (n.*20_*22delinsCTG) n.913_915delinsCTG | |
| 9 | g.133351892A>G | CA2692367523 | SURF1 | c.*21T>C (n.*21T>C) n.914T>C | gnomAD v4 |
| 9 | g.133351892_133351893del | CA860706745 | SURF1 | c.*20_*21del (n.*20_*21del) n.913_914del | dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351893G>A | CA1882632753 | SURF1 | c.*20C>T (n.*20C>T) n.913C>T | dbSNP gnomAD v4 |
| 9 | g.133351893G>C | CA2692367527 | SURF1 | c.*20C>G (n.*20C>G) n.913C>G | gnomAD v4 |
| 9 | g.133351893G= | CA1882632750 | SURF1 | c.*20C= (n.*20C=) n.913C= | |
| 9 | g.133351894_133351895del | CA375693282 | SURF1 | c.*19_*20del (n.*19_*20del) n.912_913del | |
| 9 | g.133351894G>C | CA200831837 | SURF1 | c.*19C>G (n.*19C>G) n.912C>G | dbSNP dbSNP gnomAD v4 |
| 9 | g.133351894G= | CA1882632754 | SURF1 | c.*19C= (n.*19C=) n.912C= | |
| 9 | g.133351895G>C | CA2579498276 | SURF1 | c.*18C>G (n.*18C>G) n.911C>G | |
| 9 | g.133351895G>T | CA2692367534 | SURF1 | c.*18C>A (n.*18C>A) n.911C>A | gnomAD v4 |
| 9 | g.133351896C>A | CA2692367536 | SURF1 | c.*17G>T (n.*17G>T) n.910G>T | gnomAD v4 |
| 9 | g.133351896C= | CA1882632756 | SURF1 | c.*17G= (n.*17G=) n.910G= | |
| 9 | g.133351896C>T | CA200831840 | SURF1 | c.*17G>A (n.*17G>A) n.910G>A | dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351897_133351899dup | CA2579498277 | SURF1 | c.*15_*17dup (n.*15_*17dup) n.908_910dup | |
| 9 | g.133351898T>C | CA860706751 | SURF1 | c.*15A>G (n.*15A>G) n.908A>G | dbSNP dbSNP gnomAD v4 |
| 9 | g.133351898T= | CA1882632761 | SURF1 | c.*15A= (n.*15A=) n.908A= | |
| 9 | g.133351898_133351901delinsTCAG | CA1882632760 | SURF1 | c.*12_*15delinsCTGA (n.*12_*15delinsCTGA) n.905_908delinsCTGA | |
| 9 | g.133351899C>T | CA2692367545 | SURF1 | c.*14G>A (n.*14G>A) n.907G>A | dbSNP gnomAD v4 |
| 9 | g.133351903_133351905del | CA200831841 | SURF1 | c.*12_*14del (n.*12_*14del) n.905_907del | dbSNP dbSNP gnomAD v4 |
| 9 | g.133351900A= | CA1882632763 | SURF1 | c.*13T= (n.*13T=) n.906T= | |
| 9 | g.133351900A>G | CA1129731318 | SURF1 | c.*13T>C (n.*13T>C) n.906T>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351901G>A | CA653779394 | SURF1 | c.*12C>T (n.*12C>T) n.905C>T | COSMIC |
| 9 | g.133351902C>G | CA2579498278 | SURF1 | c.*11G>C (n.*11G>C) n.904G>C | |
| 9 | g.133351902C>T | CA2579498279 | SURF1 | c.*11G>A (n.*11G>A) n.904G>A | |
| 9 | g.133351903del | CA2692367549 | SURF1 | c.*10del (n.*10del) n.903del | gnomAD v4 |
| 9 | g.133351903A= | CA1882632764 | SURF1 | c.*10T= (n.*10T=) n.903T= | |
| 9 | g.133351903A>G | CA860706760 | SURF1 | c.*10T>C (n.*10T>C) n.903T>C | dbSNP |
| 9 | g.133351904G>A | CA1882632769 | SURF1 | c.*9C>T (n.*9C>T) n.902C>T | dbSNP dbSNP |
| 9 | g.133351904G= | CA1882632767 | SURF1 | c.*9C= (n.*9C=) n.902C= | |
| 9 | g.133351906T>C | CA200831844 | SURF1 | c.*7A>G (n.*7A>G) n.900A>G | dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351906T= | CA1882632771 | SURF1 | c.*7A= (n.*7A=) n.900A= | |
| 9 | g.133351907G>A | CA2692367555 | SURF1 | c.*6C>T (n.*6C>T) n.899C>T | gnomAD v4 |
| 9 | g.133351907G>C | CA200831845 | SURF1 | c.*6C>G (n.*6C>G) n.899C>G | dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351907G= | CA1882632774 | SURF1 | c.*6C= (n.*6C=) n.899C= | |
| 9 | g.133351907G>T | CA1882632776 | SURF1 | c.*6C>A (n.*6C>A) n.899C>A | dbSNP gnomAD v4 |
| 9 | g.133351908A>T | CA2692367560 | SURF1 | c.*5T>A (n.*5T>A) n.898T>A | gnomAD v4 |
| 9 | g.133351909T>C | CA2692367564 | SURF1 | c.*4A>G (n.*4A>G) n.897A>G | gnomAD v4 |
| 9 | g.133351910C= | CA1882632778 | SURF1 | c.*3G= (n.*3G=) n.896G= | |
| 9 | g.133351910C>G | CA200831847 | SURF1 | c.*3G>C (n.*3G>C) n.896G>C | dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351910C>T | CA2692367569 | SURF1 | c.*3G>A (n.*3G>A) n.896G>A | gnomAD v4 |
| 9 | g.133351910_133351914del | CA2692367572 | SURF1 | c.902_*3del (n.[c.902_*3del;Ter301TyrextTer27]) n.892_896del c.575_*3del (n.[c.575_*3del;Ter192TyrextTer27]) | gnomAD v4 |
| 9 | g.133351911T>C | CA1882632781 | SURF1 | c.*2A>G (n.*2A>G) n.895A>G | dbSNP |
| 9 | g.133351911T>G | CA1882632779 | SURF1 | c.*2A>C (n.*2A>C) n.895A>C | dbSNP dbSNP gnomAD v4 |
| 9 | g.133351911T= | CA1882632780 | SURF1 | c.*2A= (n.*2A=) n.895A= | |
| 9 | g.133351912G>A | CA200831850 | SURF1 | c.*1C>T (n.*1C>T) n.894C>T | dbSNP gnomAD v4 |
| 9 | g.133351912G= | CA1882632784 | SURF1 | c.*1C= (n.*1C=) n.894C= | |
| 9 | g.133351913T>A | CA375693283 | SURF1 | c.903A>T (p.Ter301Cys) n.813A>T n.893A>T c.576A>T (p.Ter192Cys) | ClinVar |
| 9 | g.133351913T>C | CA375693284 | SURF1 | c.903A>G (p.Ter301Trp) n.813A>G n.893A>G c.576A>G (p.Ter192Trp) | ClinVar gnomAD v4 |
| 9 | g.133351913T>G | CA375693285 | SURF1 | c.903A>C (p.Ter301Cys) n.813A>C n.893A>C c.576A>C (p.Ter192Cys) | |
| 9 | g.133351913_133351916del | CA2579498280 | SURF1 | c.900_903del (p.Ter301ArgextTer?) n.810_813del n.890_893del c.573_576del (p.Ter192ArgextTer?) | |
| 9 | g.133351914C>A | CA375693286 | SURF1 | c.902G>T (p.Ter301Leu) n.812G>T n.892G>T c.575G>T (p.Ter192Leu) | |
| 9 | g.133351914C>G | CA375693287 | SURF1 | c.902G>C (p.Ter301Ser) n.812G>C n.892G>C c.575G>C (p.Ter192Ser) | |
| 9 | g.133351914C>T | CA2692367624 | SURF1 | c.902G>A (p.Ter301=) n.812G>A n.892G>A c.575G>A (p.Ter192=) | gnomAD v4 |
| 9 | g.133351919_133351920del | CA2692367621 | SURF1 | c.901_902del (p.Ter301ThrextTer28) n.811_812del n.891_892del c.574_575del (p.Ter192ThrextTer28) | gnomAD v4 |
| 9 | g.133351917_133351920del | CA2580617134 | SURF1 | c.899_902del (p.Val300AspfsTer?) n.809_812del n.889_892del c.572_575del (p.Val191AspfsTer?) | ClinVar |
| 9 | g.133351915A>C | CA375693288 | SURF1 | c.901T>G (p.Ter301Gly) n.811T>G n.891T>G c.574T>G (p.Ter192Gly) | |
| 9 | g.133351915A>G | CA375693289 | SURF1 | c.901T>C (p.Ter301Arg) n.811T>C n.891T>C c.574T>C (p.Ter192Arg) | gnomAD v4 |
| 9 | g.133351915A>T | CA375693290 | SURF1 | c.901T>A (p.Ter301Arg) n.811T>A n.891T>A c.574T>A (p.Ter192Arg) | |
| 9 | g.133351916C>A | CA200831855 | SURF1 | c.900G>T (p.Val300=) n.810G>T n.890G>T c.573G>T (p.Val191=) | dbSNP gnomAD v4 |
| 9 | g.133351916C= | CA1882632788 | SURF1 | c.900G= (p.Val300=) n.810G= n.890G= c.573G= (p.Val191=) | |
| 9 | g.133351916C>G | CA200831853 | SURF1 | c.900G>C (p.Val300=) n.810G>C n.890G>C c.573G>C (p.Val191=) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351917A>C | CA375693291 | SURF1 | c.899T>G (p.Val300Gly) n.809T>G n.889T>G c.572T>G (p.Val191Gly) | |
| 9 | g.133351917A>G | CA375693293 | SURF1 | c.899T>C (p.Val300Ala) n.809T>C n.889T>C c.572T>C (p.Val191Ala) | gnomAD v4 |
| 9 | g.133351917A>T | CA375693292 | SURF1 | c.899T>A (p.Val300Glu) n.809T>A n.889T>A c.572T>A (p.Val191Glu) | |
| 9 | g.133351918C>A | CA200831858 | SURF1 | c.898G>T (p.Val300Leu) n.808G>T n.888G>T c.571G>T (p.Val191Leu) | dbSNP |
| 9 | g.133351918C= | CA1882632796 | SURF1 | c.898G= (p.Val300=) n.808G= n.888G= c.571G= (p.Val191=) | |
| 9 | g.133351918C>G | CA200831859 | SURF1 | c.898G>C (p.Val300Leu) n.808G>C n.888G>C c.571G>C (p.Val191Leu) | dbSNP gnomAD v4 |
| 9 | g.133351918C>T | CA375693294 | SURF1 | c.898G>A (p.Val300Met) n.808G>A n.888G>A c.571G>A (p.Val191Met) | ClinVar dbSNP gnomAD v4 |
| 9 | g.133351918_133351919delinsCA | CA1882632798 | SURF1 | c.897_898delinsTG (p.Gly299=) n.807_808delinsTG n.887_888delinsTG c.570_571delinsTG (p.Gly190=) | |
| 9 | g.133351919del | CA200831862 | SURF1 | c.897del (p.Val300CysfsTer?) n.807del n.887del c.570del (p.Val191CysfsTer?) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351919A= | CA1882632804 | SURF1 | c.897T= (p.Gly299=) n.807T= n.887T= c.570T= (p.Gly190=) | |
| 9 | g.133351919A>G | CA200831863 | SURF1 | c.897T>C (p.Gly299=) n.807T>C n.887T>C c.570T>C (p.Gly190=) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351919_133351920delinsAC | CA1882632806 | SURF1 | c.896_897delinsGT (p.Gly299=) n.806_807delinsGT n.886_887delinsGT c.569_570delinsGT (p.Gly190=) | |
| 9 | g.133351920C>A | CA375693295 | SURF1 | c.896G>T (p.Gly299Val) n.806G>T n.886G>T c.569G>T (p.Gly190Val) | |
| 9 | g.133351920C= | CA1882632810 | SURF1 | c.896G= (p.Gly299=) n.806G= n.886G= c.569G= (p.Gly190=) | |
| 9 | g.133351920C>G | CA375693296 | SURF1 | c.896G>C (p.Gly299Ala) n.806G>C n.886G>C c.569G>C (p.Gly190Ala) | |
| 9 | g.133351920C>T | CA200831868 | SURF1 | c.896G>A (p.Gly299Asp) n.806G>A n.886G>A c.569G>A (p.Gly190Asp) | dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351921del | CA200831865 | SURF1 | c.896del (p.Gly299ValfsTer?) n.806del n.886del c.569del (p.Gly190ValfsTer?) | dbSNP |
| 9 | g.133351921C>A | CA375693297 | SURF1 | c.895G>T (p.Gly299Cys) n.805G>T n.885G>T c.568G>T (p.Gly190Cys) | |
| 9 | g.133351921C>G | CA375693298 | SURF1 | c.895G>C (p.Gly299Arg) n.805G>C n.885G>C c.568G>C (p.Gly190Arg) | |
| 9 | g.133351921C>T | CA375693299 | SURF1 | c.895G>A (p.Gly299Ser) n.805G>A n.885G>A c.568G>A (p.Gly190Ser) | gnomAD v4 |
| 9 | g.133351922A>G | CA2692367660 | SURF1 | c.894T>C (p.Pro298=) n.804T>C n.884T>C c.567T>C (p.Pro189=) | gnomAD v4 |
| 9 | g.133351923G>A | CA375693301 | SURF1 | c.893C>T (p.Pro298Leu) n.803C>T n.883C>T c.566C>T (p.Pro189Leu) | gnomAD v4 |
| 9 | g.133351923G>C | CA200831870 | SURF1 | c.893C>G (p.Pro298Arg) n.803C>G n.883C>G c.566C>G (p.Pro189Arg) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351923G= | CA1882632815 | SURF1 | c.893C= (p.Pro298=) n.803C= n.883C= c.566C= (p.Pro189=) | |
| 9 | g.133351923G>T | CA375693300 | SURF1 | c.893C>A (p.Pro298His) n.803C>A n.883C>A c.566C>A (p.Pro189His) | |
| 9 | g.133351924G>A | CA200831873 | SURF1 | c.892C>T (p.Pro298Ser) n.802C>T n.882C>T c.565C>T (p.Pro189Ser) | dbSNP gnomAD v4 |
| 9 | g.133351924G>C | CA375693303 | SURF1 | c.892C>G (p.Pro298Ala) n.802C>G n.882C>G c.565C>G (p.Pro189Ala) | dbSNP gnomAD v4 |
| 9 | g.133351924G= | CA1882632819 | SURF1 | c.892C= (p.Pro298=) n.802C= n.882C= c.565C= (p.Pro189=) | |
| 9 | g.133351924G>T | CA375693302 | SURF1 | c.892C>A (p.Pro298Thr) n.802C>A n.882C>A c.565C>A (p.Pro189Thr) | |
| 9 | g.133351925T>C | CA200831875 | SURF1 | c.891A>G (p.Thr297=) n.801A>G n.881A>G c.564A>G (p.Thr188=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.133351925T>G | CA200831877 | SURF1 | c.891A>C (p.Thr297=) n.801A>C n.881A>C c.564A>C (p.Thr188=) | ClinVar dbSNP dbSNP gnomAD v4 |
| 9 | g.133351925T= | CA1882632821 | SURF1 | c.891A= (p.Thr297=) n.801A= n.881A= c.564A= (p.Thr188=) | |
| 9 | g.133351926G>A | CA375693305 | SURF1 | c.890C>T (p.Thr297Ile) n.800C>T n.880C>T c.563C>T (p.Thr188Ile) | dbSNP dbSNP gnomAD v4 |
| 9 | g.133351926G>C | CA375693304 | SURF1 | c.890C>G (p.Thr297Arg) n.800C>G n.880C>G c.563C>G (p.Thr188Arg) | |
| 9 | g.133351926G= | CA1882632824 | SURF1 | c.890C= (p.Thr297=) n.800C= n.880C= c.563C= (p.Thr188=) | |
| 9 | g.133351926G>T | CA375693306 | SURF1 | c.890C>A (p.Thr297Lys) n.800C>A n.880C>A c.563C>A (p.Thr188Lys) | gnomAD v4 |
| 9 | g.133351927T>A | CA375693307 | SURF1 | c.889A>T (p.Thr297Ser) n.799A>T n.879A>T c.562A>T (p.Thr188Ser) | |
| 9 | g.133351927T>C | CA375693308 | SURF1 | c.889A>G (p.Thr297Ala) n.799A>G n.879A>G c.562A>G (p.Thr188Ala) | dbSNP |
| 9 | g.133351927T>G | CA324187 | SURF1 | c.889A>C (p.Thr297Pro) n.799A>C n.879A>C c.562A>C (p.Thr188Pro) | ClinVar dbSNP dbSNP gnomAD v4 |
| 9 | g.133351927T= | CA1882632829 | SURF1 | c.889A= (p.Thr297=) n.799A= n.879A= c.562A= (p.Thr188=) | |
| 9 | g.133351928C= | CA1882632834 | SURF1 | c.888G= (p.Gly296=) n.798G= n.878G= c.561G= (p.Gly187=) | |
| 9 | g.133351928C>G | CA200831882 | SURF1 | c.888G>C (p.Gly296=) n.798G>C n.878G>C c.561G>C (p.Gly187=) | dbSNP gnomAD v4 |
| 9 | g.133351928C>T | CA2579498281 | SURF1 | c.888G>A (p.Gly296=) n.798G>A n.878G>A c.561G>A (p.Gly187=) | |
| 9 | g.133351930del | CA2692367744 | SURF1 | c.888del (p.Thr297HisfsTer?) n.798del n.878del c.561del (p.Thr188HisfsTer?) | gnomAD v4 |
| 9 | g.133351929C>A | CA375693309 | SURF1 | c.887G>T (p.Gly296Val) n.797G>T n.877G>T c.560G>T (p.Gly187Val) | dbSNP |
| 9 | g.133351929C= | CA1882632838 | SURF1 | c.887G= (p.Gly296=) n.797G= n.877G= c.560G= (p.Gly187=) | |
| 9 | g.133351929C>G | CA375693310 | SURF1 | c.887G>C (p.Gly296Ala) n.797G>C n.877G>C c.560G>C (p.Gly187Ala) | |
| 9 | g.133351929C>T | CA375693311 | SURF1 | c.887G>A (p.Gly296Glu) n.797G>A n.877G>A c.560G>A (p.Gly187Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351930C>A | CA375693312 | SURF1 | c.886G>T (p.Gly296Trp) n.796G>T n.876G>T c.559G>T (p.Gly187Trp) | |
| 9 | g.133351930C>G | CA375693313 | SURF1 | c.886G>C (p.Gly296Arg) n.796G>C n.876G>C c.559G>C (p.Gly187Arg) | |
| 9 | g.133351930C>T | CA375693314 | SURF1 | c.886G>A (p.Gly296Arg) n.796G>A n.876G>A c.559G>A (p.Gly187Arg) | |
| 9 | g.133351932C>A | CA200831885 | SURF1 | c.884G>T (p.Arg295Leu) n.794G>T n.874G>T c.557G>T (p.Arg186Leu) | ClinVar dbSNP dbSNP gnomAD v4 |
| 9 | g.133351932C= | CA1882632840 | SURF1 | c.884G= (p.Arg295=) n.794G= n.874G= c.557G= (p.Arg186=) | |
| 9 | g.133351932C>G | CA375693315 | SURF1 | c.884G>C (p.Arg295Pro) n.794G>C n.874G>C c.557G>C (p.Arg186Pro) | |
| 9 | g.133351932C>T | CA200831887 | SURF1 | c.884G>A (p.Arg295His) n.794G>A n.874G>A c.557G>A (p.Arg186His) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351933G>A | CA16605399 | SURF1 | c.883C>T (p.Arg295Cys) n.793C>T n.873C>T c.556C>T (p.Arg186Cys) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351933G>C | CA375693316 | SURF1 | c.883C>G (p.Arg295Gly) n.793C>G n.873C>G c.556C>G (p.Arg186Gly) | |
| 9 | g.133351933G= | CA1882632844 | SURF1 | c.883C= (p.Arg295=) n.793C= n.873C= c.556C= (p.Arg186=) | |
| 9 | g.133351933G>T | CA375693317 | SURF1 | c.883C>A (p.Arg295Ser) n.793C>A n.873C>A c.556C>A (p.Arg186Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351934T>A | CA2697558154 | SURF1 | c.882A>T (p.Leu294=) n.792A>T n.872A>T c.555A>T (p.Leu185=) | ClinVar |
| 9 | g.133351934T>C | CA2499219749 | SURF1 | c.882A>G (p.Leu294=) n.792A>G n.872A>G c.555A>G (p.Leu185=) | ClinVar dbSNP |
| 9 | g.133351934T>G | CA2692367777 | SURF1 | c.882A>C (p.Leu294=) n.792A>C n.872A>C c.555A>C (p.Leu185=) | gnomAD v4 |
| 9 | g.133351935A= | CA1882632850 | SURF1 | c.881T= (p.Leu294=) n.791T= n.871T= c.554T= (p.Leu185=) | |
| 9 | g.133351935A>C | CA375693318 | SURF1 | c.881T>G (p.Leu294Arg) n.791T>G n.871T>G c.554T>G (p.Leu185Arg) | |
| 9 | g.133351935A>G | CA375693319 | SURF1 | c.881T>C (p.Leu294Pro) n.791T>C n.871T>C c.554T>C (p.Leu185Pro) | |
| 9 | g.133351935A>T | CA375693320 | SURF1 | c.881T>A (p.Leu294Gln) n.791T>A n.871T>A c.554T>A (p.Leu185Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351936G>C | CA375693321 | SURF1 | c.880C>G (p.Leu294Val) n.790C>G n.870C>G c.553C>G (p.Leu185Val) | gnomAD v4 |
| 9 | g.133351936G>T | CA375693322 | SURF1 | c.880C>A (p.Leu294Ile) n.790C>A n.870C>A c.553C>A (p.Leu185Ile) | |
| 9 | g.133351936_133351938delinsCTAC | CA2695211578 | SURF1 | c.878_880delinsGTAG (p.Phe293CysfsTer?) n.788_790delinsGTAG n.868_870delinsGTAG c.551_553delinsGTAG (p.Phe184CysfsTer?) | |
| 9 | g.133351937G>A | CA200831892 | SURF1 | c.879C>T (p.Phe293=) n.789C>T n.869C>T c.552C>T (p.Phe184=) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351937G>C | CA375693323 | SURF1 | c.879C>G (p.Phe293Leu) n.789C>G n.869C>G c.552C>G (p.Phe184Leu) | ClinVar gnomAD v4 |
| 9 | g.133351937G= | CA1882632852 | SURF1 | c.879C= (p.Phe293=) n.789C= n.869C= c.552C= (p.Phe184=) | |
| 9 | g.133351937G>T | CA375693324 | SURF1 | c.879C>A (p.Phe293Leu) n.789C>A n.869C>A c.552C>A (p.Phe184Leu) | gnomAD v4 |
| 9 | g.133351938A>C | CA375693326 | SURF1 | c.878T>G (p.Phe293Cys) n.788T>G n.868T>G c.551T>G (p.Phe184Cys) | |
| 9 | g.133351938A>G | CA375693327 | SURF1 | c.878T>C (p.Phe293Ser) n.788T>C n.868T>C c.551T>C (p.Phe184Ser) | gnomAD v4 |
| 9 | g.133351938A>T | CA375693325 | SURF1 | c.878T>A (p.Phe293Tyr) n.788T>A n.868T>A c.551T>A (p.Phe184Tyr) | |
| 9 | g.133351938_133351939insC | CA2692367812 | SURF1 | c.877_878insG (p.Phe293CysfsTer?) n.787_788insG n.867_868insG c.550_551insG (p.Phe184CysfsTer?) | gnomAD v4 |
| 9 | g.133351939A>C | CA375693328 | SURF1 | c.877T>G (p.Phe293Val) n.787T>G n.867T>G c.550T>G (p.Phe184Val) | |
| 9 | g.133351939A>G | CA375693329 | SURF1 | c.877T>C (p.Phe293Leu) n.787T>C n.867T>C c.550T>C (p.Phe184Leu) | |
| 9 | g.133351939A>T | CA375693330 | SURF1 | c.877T>A (p.Phe293Ile) n.787T>A n.867T>A c.550T>A (p.Phe184Ile) | |
| 9 | g.133351940T>A | CA375693331 | SURF1 | c.876A>T (p.Lys292Asn) n.786A>T n.866A>T c.549A>T (p.Lys183Asn) | |
| 9 | g.133351940T>C | CA2692367816 | SURF1 | c.876A>G (p.Lys292=) n.786A>G n.866A>G c.549A>G (p.Lys183=) | gnomAD v4 |
| 9 | g.133351940T>G | CA375693332 | SURF1 | c.876A>C (p.Lys292Asn) n.786A>C n.866A>C c.549A>C (p.Lys183Asn) | |
| 9 | g.133351942_133351945del | CA2579498282 | SURF1 | c.873_876del (p.Lys291AsnfsTer?) n.783_786del n.863_866del c.546_549del (p.Lys182AsnfsTer?) | |
| 9 | g.133351941T>A | CA375693335 | SURF1 | c.875A>T (p.Lys292Ile) n.785A>T n.865A>T c.548A>T (p.Lys183Ile) | |
| 9 | g.133351941T>C | CA375693333 | SURF1 | c.875A>G (p.Lys292Arg) n.785A>G n.865A>G c.548A>G (p.Lys183Arg) | |
| 9 | g.133351941T>G | CA375693334 | SURF1 | c.875A>C (p.Lys292Thr) n.785A>C n.865A>C c.548A>C (p.Lys183Thr) | |
| 9 | g.133351942T>A | CA375693336 | SURF1 | c.874A>T (p.Lys292Ter) n.784A>T n.864A>T c.547A>T (p.Lys183Ter) | |
| 9 | g.133351942T>C | CA375693337 | SURF1 | c.874A>G (p.Lys292Glu) n.784A>G n.864A>G c.547A>G (p.Lys183Glu) | gnomAD v4 |
| 9 | g.133351942T>G | CA375693338 | SURF1 | c.874A>C (p.Lys292Gln) n.784A>C n.864A>C c.547A>C (p.Lys183Gln) | dbSNP |
| 9 | g.133351942T= | CA1882632854 | SURF1 | c.874A= (p.Lys292=) n.784A= n.864A= c.547A= (p.Lys183=) | |
| 9 | g.133351943C>A | CA375693339 | SURF1 | c.873G>T (p.Lys291Asn) n.783G>T n.863G>T c.546G>T (p.Lys182Asn) | |
| 9 | g.133351943C>G | CA375693340 | SURF1 | c.873G>C (p.Lys291Asn) n.783G>C n.863G>C c.546G>C (p.Lys182Asn) | gnomAD v4 |
| 9 | g.133351944T>A | CA375693341 | SURF1 | c.872A>T (p.Lys291Met) n.782A>T n.862A>T c.545A>T (p.Lys182Met) | |
| 9 | g.133351944T>C | CA375693343 | SURF1 | c.872A>G (p.Lys291Arg) n.782A>G n.862A>G c.545A>G (p.Lys182Arg) | |
| 9 | g.133351944T>G | CA375693342 | SURF1 | c.872A>C (p.Lys291Thr) n.782A>C n.862A>C c.545A>C (p.Lys182Thr) | |
| 9 | g.133351945del | CA2720595844 | SURF1 | c.872del (p.Lys291ArgfsTer?) n.782del n.862del c.545del (p.Lys182ArgfsTer?) | dbSNP |
| 9 | g.133351945T>A | CA375693344 | SURF1 | c.871A>T (p.Lys291Ter) n.781A>T n.861A>T c.544A>T (p.Lys182Ter) | |
| 9 | g.133351945T>C | CA375693345 | SURF1 | c.871A>G (p.Lys291Glu) n.781A>G n.861A>G c.544A>G (p.Lys182Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351945T>G | CA200831894 | SURF1 | c.871A>C (p.Lys291Gln) n.781A>C n.861A>C c.544A>C (p.Lys182Gln) | dbSNP |
| 9 | g.133351945T= | CA1882632856 | SURF1 | c.871A= (p.Lys291=) n.781A= n.861A= c.544A= (p.Lys182=) | |
| 9 | g.133351946A>C | CA375693346 | SURF1 | c.870T>G (p.Phe290Leu) n.780T>G n.860T>G c.543T>G (p.Phe181Leu) | |
| 9 | g.133351946A>T | CA375693347 | SURF1 | c.870T>A (p.Phe290Leu) n.780T>A n.860T>A c.543T>A (p.Phe181Leu) | |
| 9 | g.133351948dup | CA200831897 | SURF1 | c.870dup (p.Lys291Ter) n.780dup n.860dup c.543dup (p.Lys182Ter) | ClinVar dbSNP dbSNP gnomAD v4 |
| 9 | g.133351948del | CA2695211579 | SURF1 | c.870del (p.Phe290LeufsTer?) n.780del n.860del c.543del (p.Phe181LeufsTer?) | ClinVar |
| 9 | g.133351947A= | CA1882632865 | SURF1 | c.869T= (p.Phe290=) n.779T= n.859T= c.542T= (p.Phe181=) | |
| 9 | g.133351947A>C | CA375693348 | SURF1 | c.869T>G (p.Phe290Cys) n.779T>G n.859T>G c.542T>G (p.Phe181Cys) | dbSNP dbSNP gnomAD v4 |
| 9 | g.133351947A>G | CA375693349 | SURF1 | c.869T>C (p.Phe290Ser) n.779T>C n.859T>C c.542T>C (p.Phe181Ser) | |
| 9 | g.133351947A>T | CA375693350 | SURF1 | c.869T>A (p.Phe290Tyr) n.779T>A n.859T>A c.542T>A (p.Phe181Tyr) | |
| 9 | g.133351948A>C | CA375693351 | SURF1 | c.868T>G (p.Phe290Val) n.778T>G n.858T>G c.541T>G (p.Phe181Val) | |
| 9 | g.133351948A>G | CA375693352 | SURF1 | c.868T>C (p.Phe290Leu) n.778T>C n.858T>C c.541T>C (p.Phe181Leu) | gnomAD v4 |
| 9 | g.133351948A>T | CA375693353 | SURF1 | c.868T>A (p.Phe290Ile) n.778T>A n.858T>A c.541T>A (p.Phe181Ile) | |
| 9 | g.133351949C>A | CA375693355 | SURF1 | c.867G>T (p.Trp289Cys) n.777G>T n.857G>T c.540G>T (p.Trp180Cys) | |
| 9 | g.133351949C>G | CA375693356 | SURF1 | c.867G>C (p.Trp289Cys) n.777G>C n.857G>C c.540G>C (p.Trp180Cys) | |
| 9 | g.133351949C>T | CA375693354 | SURF1 | c.867G>A (p.Trp289Ter) n.777G>A n.857G>A c.540G>A (p.Trp180Ter) | ClinVar dbSNP |
| 9 | g.133351950C>A | CA375693357 | SURF1 | c.866G>T (p.Trp289Leu) n.776G>T n.856G>T c.539G>T (p.Trp180Leu) | |
| 9 | g.133351950C>G | CA375693358 | SURF1 | c.866G>C (p.Trp289Ser) n.776G>C n.856G>C c.539G>C (p.Trp180Ser) | |
| 9 | g.133351950C>T | CA375693359 | SURF1 | c.866G>A (p.Trp289Ter) n.776G>A n.856G>A c.539G>A (p.Trp180Ter) | gnomAD v4 COSMIC |
| 9 | g.133351951A= | CA1882632869 | SURF1 | c.865T= (p.Trp289=) n.775T= n.855T= c.538T= (p.Trp180=) | |
| 9 | g.133351951A>C | CA200831900 | SURF1 | c.865T>G (p.Trp289Gly) n.775T>G n.855T>G c.538T>G (p.Trp180Gly) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351951A>G | CA375693360 | SURF1 | c.865T>C (p.Trp289Arg) n.775T>C n.855T>C c.538T>C (p.Trp180Arg) | gnomAD v4 |
| 9 | g.133351951A>T | CA375693361 | SURF1 | c.865T>A (p.Trp289Arg) n.775T>A n.855T>A c.538T>A (p.Trp180Arg) | |
| 9 | g.133351952C>A | CA200831903 | SURF1 | c.864G>T (p.Leu288=) n.774G>T n.854G>T c.537G>T (p.Leu179=) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351952C= | CA1882632872 | SURF1 | c.864G= (p.Leu288=) n.774G= n.854G= c.537G= (p.Leu179=) | |
| 9 | g.133351952C>T | CA2692367882 | SURF1 | c.864G>A (p.Leu288=) n.774G>A n.854G>A c.537G>A (p.Leu179=) | ClinVar gnomAD v4 |
| 9 | g.133351953A= | CA1882632875 | SURF1 | c.863T= (p.Leu288=) n.773T= n.853T= c.536T= (p.Leu179=) | |
| 9 | g.133351953A>C | CA200831910 | SURF1 | c.863T>G (p.Leu288Arg) n.773T>G n.853T>G c.536T>G (p.Leu179Arg) | dbSNP dbSNP gnomAD v4 |
| 9 | g.133351953A>G | CA375693362 | SURF1 | c.863T>C (p.Leu288Pro) n.773T>C n.853T>C c.536T>C (p.Leu179Pro) | |
| 9 | g.133351953A>T | CA200831913 | SURF1 | c.863T>A (p.Leu288Gln) n.773T>A n.853T>A c.536T>A (p.Leu179Gln) | ClinVar dbSNP dbSNP gnomAD v4 |
| 9 | g.133351954G>A | CA200831915 | SURF1 | c.862C>T (p.Leu288=) n.772C>T n.852C>T c.535C>T (p.Leu179=) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351954G>C | CA375693363 | SURF1 | c.862C>G (p.Leu288Val) n.772C>G n.852C>G c.535C>G (p.Leu179Val) | |
| 9 | g.133351954G= | CA1882632877 | SURF1 | c.862C= (p.Leu288=) n.772C= n.852C= c.535C= (p.Leu179=) | |
| 9 | g.133351954G>T | CA375693364 | SURF1 | c.862C>A (p.Leu288Met) n.772C>A n.852C>A c.535C>A (p.Leu179Met) | |
| 9 | g.133351955G>A | CA200831917 | SURF1 | c.861C>T (p.Tyr287=) n.771C>T n.851C>T c.534C>T (p.Tyr178=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 9 | g.133351955G>C | CA375693365 | SURF1 | c.861C>G (p.Tyr287Ter) n.771C>G n.851C>G c.534C>G (p.Tyr178Ter) | |
| 9 | g.133351955G= | CA1882632879 | SURF1 | c.861C= (p.Tyr287=) n.771C= n.851C= c.534C= (p.Tyr178=) | |
| 9 | g.133351955G>T | CA375693366 | SURF1 | c.861C>A (p.Tyr287Ter) n.771C>A n.851C>A c.534C>A (p.Tyr178Ter) | |
| 9 | g.133351956T>A | CA375693367 | SURF1 | c.860A>T (p.Tyr287Phe) n.770A>T n.850A>T c.533A>T (p.Tyr178Phe) | |
| 9 | g.133351956T>C | CA375693369 | SURF1 | c.860A>G (p.Tyr287Cys) n.770A>G n.850A>G c.533A>G (p.Tyr178Cys) | |
| 9 | g.133351956T>G | CA375693368 | SURF1 | c.860A>C (p.Tyr287Ser) n.770A>C n.850A>C c.533A>C (p.Tyr178Ser) | |
| 9 | g.133351957A= | CA1882632883 | SURF1 | c.859T= (p.Tyr287=) n.769T= n.849T= c.532T= (p.Tyr178=) | |
| 9 | g.133351957A>C | CA375693370 | SURF1 | c.859T>G (p.Tyr287Asp) n.769T>G n.849T>G c.532T>G (p.Tyr178Asp) | |
| 9 | g.133351957A>G | CA375693371 | SURF1 | c.859T>C (p.Tyr287His) n.769T>C n.849T>C c.532T>C (p.Tyr178His) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351957A>T | CA375693372 | SURF1 | c.859T>A (p.Tyr287Asn) n.769T>A n.849T>A c.532T>A (p.Tyr178Asn) | |
| 9 | g.133351958G>A | CA2739265135 | SURF1 | c.858C>T (p.Ser286=) n.768C>T n.848C>T c.531C>T (p.Ser177=) | ClinVar |
| 9 | g.133351959G>A | CA200831920 | SURF1 | c.857C>T (p.Ser286Phe) n.767C>T n.847C>T c.530C>T (p.Ser177Phe) | dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351959G>C | CA375693373 | SURF1 | c.857C>G (p.Ser286Cys) n.767C>G n.847C>G c.530C>G (p.Ser177Cys) | |
| 9 | g.133351959G= | CA1882632886 | SURF1 | c.857C= (p.Ser286=) n.767C= n.847C= c.530C= (p.Ser177=) | |
| 9 | g.133351959G>T | CA375693374 | SURF1 | c.857C>A (p.Ser286Tyr) n.767C>A n.847C>A c.530C>A (p.Ser177Tyr) | |
| 9 | g.133351960A>C | CA375693375 | SURF1 | c.856T>G (p.Ser286Ala) n.766T>G n.846T>G c.529T>G (p.Ser177Ala) | ClinVar dbSNP |
| 9 | g.133351960A>G | CA375693376 | SURF1 | c.856T>C (p.Ser286Pro) n.766T>C n.846T>C c.529T>C (p.Ser177Pro) | ClinVar |
| 9 | g.133351960A>T | CA375693377 | SURF1 | c.856T>A (p.Ser286Thr) n.766T>A n.846T>A c.529T>A (p.Ser177Thr) | |
| 9 | g.133351961T>C | CA200831924 | SURF1 | c.855A>G (p.Thr285=) n.765A>G n.845A>G c.528A>G (p.Thr176=) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351961T>G | CA200831922 | SURF1 | c.855A>C (p.Thr285=) n.765A>C n.845A>C c.528A>C (p.Thr176=) | dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351961T= | CA1882632891 | SURF1 | c.855A= (p.Thr285=) n.765A= n.845A= c.528A= (p.Thr176=) | |
| 9 | g.133351962G>A | CA375693378 | SURF1 | c.854C>T (p.Thr285Ile) n.764C>T n.844C>T c.527C>T (p.Thr176Ile) | |
| 9 | g.133351962G>C | CA375693379 | SURF1 | c.854C>G (p.Thr285Arg) n.764C>G n.844C>G c.527C>G (p.Thr176Arg) | |
| 9 | g.133351962G>T | CA375693380 | SURF1 | c.854C>A (p.Thr285Lys) n.764C>A n.844C>A c.527C>A (p.Thr176Lys) | |
| 9 | g.133351963T>A | CA375693381 | SURF1 | c.853A>T (p.Thr285Ser) n.763A>T n.843A>T c.526A>T (p.Thr176Ser) | |
| 9 | g.133351963T>C | CA200831927 | SURF1 | c.853A>G (p.Thr285Ala) n.763A>G n.843A>G c.526A>G (p.Thr176Ala) | dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351963T>G | CA375693382 | SURF1 | c.853A>C (p.Thr285Pro) n.763A>C n.843A>C c.526A>C (p.Thr176Pro) | |
| 9 | g.133351963T= | CA1882632896 | SURF1 | c.853A= (p.Thr285=) n.763A= n.843A= c.526A= (p.Thr176=) | |
| 9 | g.133351964A>G | CA2692367921 | SURF1 | c.852T>C (p.Ala284=) n.762T>C n.842T>C c.525T>C (p.Ala175=) | gnomAD v4 |
| 9 | g.133351965G>A | CA375693383 | SURF1 | c.851C>T (p.Ala284Val) n.761C>T n.841C>T c.524C>T (p.Ala175Val) | |
| 9 | g.133351965G>C | CA375693384 | SURF1 | c.851C>G (p.Ala284Gly) n.761C>G n.841C>G c.524C>G (p.Ala175Gly) | gnomAD v4 |
| 9 | g.133351965G>T | CA375693385 | SURF1 | c.851C>A (p.Ala284Asp) n.761C>A n.841C>A c.524C>A (p.Ala175Asp) | |
| 9 | g.133351966C>A | CA375693386 | SURF1 | c.850G>T (p.Ala284Ser) n.760G>T n.840G>T c.523G>T (p.Ala175Ser) | |
| 9 | g.133351966C= | CA1882632900 | SURF1 | c.850G= (p.Ala284=) n.760G= n.840G= c.523G= (p.Ala175=) | |
| 9 | g.133351966C>G | CA375693387 | SURF1 | c.850G>C (p.Ala284Pro) n.760G>C n.840G>C c.523G>C (p.Ala175Pro) | ClinVar |
| 9 | g.133351966C>T | CA200831929 | SURF1 | c.850G>A (p.Ala284Thr) n.760G>A n.840G>A c.523G>A (p.Ala175Thr) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351967T>A | CA2692367940 | SURF1 | c.849A>T (p.Ala283=) n.759A>T n.839A>T c.522A>T (p.Ala174=) | ClinVar gnomAD v4 |
| 9 | g.133351968G>A | CA375693390 | SURF1 | c.848C>T (p.Ala283Val) n.758C>T n.838C>T c.521C>T (p.Ala174Val) | |
| 9 | g.133351968G>C | CA375693388 | SURF1 | c.848C>G (p.Ala283Gly) n.758C>G n.838C>G c.521C>G (p.Ala174Gly) | |
| 9 | g.133351968G>T | CA375693389 | SURF1 | c.848C>A (p.Ala283Glu) n.758C>A n.838C>A c.521C>A (p.Ala174Glu) | |
| 9 | g.133351969C>A | CA375693391 | SURF1 | c.847G>T (p.Ala283Ser) n.757G>T n.837G>T c.520G>T (p.Ala174Ser) | |
| 9 | g.133351969C= | CA1882632904 | SURF1 | c.847G= (p.Ala283=) n.757G= n.837G= c.520G= (p.Ala174=) | |
| 9 | g.133351969C>G | CA375693392 | SURF1 | c.847G>C (p.Ala283Pro) n.757G>C n.837G>C c.520G>C (p.Ala174Pro) | |
| 9 | g.133351969C>T | CA200831932 | SURF1 | c.847G>A (p.Ala283Thr) n.757G>A n.837G>A c.520G>A (p.Ala174Thr) | ClinVar dbSNP dbSNP gnomAD v4 |
| 9 | g.133351969_133351971delinsCAG | CA1882632902 | SURF1 | c.845_847delinsCTG (p.Ser282=) n.755_757delinsCTG n.835_837delinsCTG c.518_520delinsCTG (p.Ser173=) | |
| 9 | g.133351970A= | CA1882632910 | SURF1 | c.846T= (p.Ser282=) n.756T= n.836T= c.519T= (p.Ser173=) | |
| 9 | g.133351970A>G | CA200831934 | SURF1 | c.846T>C (p.Ser282=) n.756T>C n.836T>C c.519T>C (p.Ser173=) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351974_133351975del | CA212943 | SURF1 | c.845_846del (p.Ser282CysfsTer9) n.755_756del n.835_836del c.518_519del (p.Ser173CysfsTer9) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.133351971G>A | CA200831936 | SURF1 | c.845C>T (p.Ser282Phe) n.755C>T n.835C>T c.518C>T (p.Ser173Phe) | dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351971G>C | CA375693394 | SURF1 | c.845C>G (p.Ser282Cys) n.755C>G n.835C>G c.518C>G (p.Ser173Cys) | ClinVar dbSNP dbSNP gnomAD v4 |
| 9 | g.133351971G= | CA1882632913 | SURF1 | c.845C= (p.Ser282=) n.755C= n.835C= c.518C= (p.Ser173=) | |
| 9 | g.133351971G>T | CA375693393 | SURF1 | c.845C>A (p.Ser282Tyr) n.755C>A n.835C>A c.518C>A (p.Ser173Tyr) | |
| 9 | g.133351972del | CA2692367988 | SURF1 | c.844del (p.Ser282LeufsTer?) n.754del n.834del c.517del (p.Ser173LeufsTer?) | gnomAD v4 |
| 9 | g.133351972A= | CA1882632916 | SURF1 | c.844T= (p.Ser282=) n.754T= n.834T= c.517T= (p.Ser173=) | |
| 9 | g.133351972A>C | CA375693395 | SURF1 | c.844T>G (p.Ser282Ala) n.754T>G n.834T>G c.517T>G (p.Ser173Ala) | |
| 9 | g.133351972A>G | CA375693396 | SURF1 | c.844T>C (p.Ser282Pro) n.754T>C n.834T>C c.517T>C (p.Ser173Pro) | dbSNP gnomAD v4 |
| 9 | g.133351972A>T | CA375693397 | SURF1 | c.844T>A (p.Ser282Thr) n.754T>A n.834T>A c.517T>A (p.Ser173Thr) | |
| 9 | g.133351973G>A | CA2692367992 | SURF1 | c.843C>T (p.Leu281=) n.753C>T n.833C>T c.516C>T (p.Leu172=) | gnomAD v4 |
| 9 | g.133351974A= | CA1882632918 | SURF1 | c.842T= (p.Leu281=) n.752T= n.832T= c.515T= (p.Leu172=) | |
| 9 | g.133351974A>C | CA375693398 | SURF1 | c.842T>G (p.Leu281Arg) n.752T>G n.832T>G c.515T>G (p.Leu172Arg) | ClinVar dbSNP |
| 9 | g.133351974A>G | CA375693399 | SURF1 | c.842T>C (p.Leu281Pro) n.752T>C n.832T>C c.515T>C (p.Leu172Pro) | |
| 9 | g.133351974A>T | CA375693400 | SURF1 | c.842T>A (p.Leu281His) n.752T>A n.832T>A c.515T>A (p.Leu172His) | dbSNP dbSNP gnomAD v4 |
| 9 | g.133351975G>A | CA375693401 | SURF1 | c.841C>T (p.Leu281Phe) n.751C>T n.831C>T c.514C>T (p.Leu172Phe) | dbSNP gnomAD v4 |
| 9 | g.133351975G>C | CA200831939 | SURF1 | c.841C>G (p.Leu281Val) n.751C>G n.831C>G c.514C>G (p.Leu172Val) | dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351975G= | CA1882632920 | SURF1 | c.841C= (p.Leu281=) n.751C= n.831C= c.514C= (p.Leu172=) | |
| 9 | g.133351975G>T | CA375693402 | SURF1 | c.841C>A (p.Leu281Ile) n.751C>A n.831C>A c.514C>A (p.Leu172Ile) | |
| 9 | g.133351976T>C | CA2786166415 | SURF1 | c.840A>G (p.Gly280=) n.750A>G n.830A>G c.513A>G (p.Gly171=) | |
| 9 | g.133351976T= | CA1882632923 | SURF1 | c.840A= (p.Gly280=) n.750A= n.830A= c.513A= (p.Gly171=) | |
| 9 | g.133351977C>A | CA375693404 | SURF1 | c.839G>T (p.Gly280Val) n.749G>T n.829G>T c.512G>T (p.Gly171Val) | |
| 9 | g.133351977C>G | CA375693405 | SURF1 | c.839G>C (p.Gly280Ala) n.749G>C n.829G>C c.512G>C (p.Gly171Ala) | |
| 9 | g.133351977C>T | CA375693403 | SURF1 | c.839G>A (p.Gly280Glu) n.749G>A n.829G>A c.512G>A (p.Gly171Glu) | |
| 9 | g.133351977_133351978dup | CA200831940 | SURF1 | c.838_839dup (p.Leu281AspfsTer?) n.748_749dup n.828_829dup c.511_512dup (p.Leu172AspfsTer?) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351978C>A | CA375693408 | SURF1 | c.838G>T (p.Gly280Ter) n.748G>T n.828G>T c.511G>T (p.Gly171Ter) | |
| 9 | g.133351978C>G | CA375693406 | SURF1 | c.838G>C (p.Gly280Arg) n.748G>C n.828G>C c.511G>C (p.Gly171Arg) | |
| 9 | g.133351978C>T | CA375693407 | SURF1 | c.838G>A (p.Gly280Arg) n.748G>A n.828G>A c.511G>A (p.Gly171Arg) | |
| 9 | g.133351979A= | CA1882632927 | SURF1 | c.837T= (p.Tyr279=) n.747T= n.827T= c.510T= (p.Tyr170=) | |
| 9 | g.133351979A>C | CA375693409 | SURF1 | c.837T>G (p.Tyr279Ter) n.747T>G n.827T>G c.510T>G (p.Tyr170Ter) | gnomAD v4 |
| 9 | g.133351979A>G | CA1882632929 | SURF1 | c.837T>C (p.Tyr279=) n.747T>C n.827T>C c.510T>C (p.Tyr170=) | dbSNP gnomAD v4 |
| 9 | g.133351979A>T | CA375693410 | SURF1 | c.837T>A (p.Tyr279Ter) n.747T>A n.827T>A c.510T>A (p.Tyr170Ter) | |
| 9 | g.133351979_133351983delinsATACC | CA1882632926 | SURF1 | c.834-1_837delinsGGTAT n.744-1_747delinsGGTAT n.824-1_827delinsGGTAT c.507-1_510delinsGGTAT | |
| 9 | g.133351980T>A | CA200831942 | SURF1 | c.836A>T (p.Tyr279Phe) n.746A>T n.826A>T c.509A>T (p.Tyr170Phe) | ClinVar dbSNP dbSNP gnomAD v4 |
| 9 | g.133351980T>C | CA200831944 | SURF1 | c.836A>G (p.Tyr279Cys) n.746A>G n.826A>G c.509A>G (p.Tyr170Cys) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351980T>G | CA375693411 | SURF1 | c.836A>C (p.Tyr279Ser) n.746A>C n.826A>C c.509A>C (p.Tyr170Ser) | |
| 9 | g.133351980T= | CA1882632932 | SURF1 | c.836A= (p.Tyr279=) n.746A= n.826A= c.509A= (p.Tyr170=) | |
| 9 | g.133351982_133351985del | CA860706909 | SURF1 | c.834-1_836del n.744-1_746del n.824-1_826del c.507-1_509del | dbSNP gnomAD v4 |
| 9 | g.133351981A>C | CA375693412 | SURF1 | c.835T>G (p.Tyr279Asp) n.745T>G n.825T>G c.508T>G (p.Tyr170Asp) | |
| 9 | g.133351981A>G | CA375693413 | SURF1 | c.835T>C (p.Tyr279His) n.745T>C n.825T>C c.508T>C (p.Tyr170His) | |
| 9 | g.133351981A>T | CA375693414 | SURF1 | c.835T>A (p.Tyr279Asn) n.745T>A n.825T>A c.508T>A (p.Tyr170Asn) | |
| 9 | g.133351982C>A | CA375693415 | SURF1 | c.834G>T (p.Trp278Cys) n.744G>T n.824G>T c.507G>T (p.Trp169Cys) | |
| 9 | g.133351982C= | CA1882632937 | SURF1 | c.834G= (p.Trp278=) n.744G= n.824G= c.507G= (p.Trp169=) | |
| 9 | g.133351982C>G | CA375693416 | SURF1 | c.834G>C (p.Trp278Cys) n.744G>C n.824G>C c.507G>C (p.Trp169Cys) | gnomAD v4 |
| 9 | g.133351982C>T | CA200831946 | SURF1 | c.834G>A (p.Trp278Ter) n.744G>A n.824G>A c.507G>A (p.Trp169Ter) | ClinVar dbSNP dbSNP gnomAD v4 |
| 9 | g.133351983C>A | CA375693418 | SURF1 | c.834-1G>T (n.834-1G>T) n.744-1G>T n.824-1G>T c.507-1G>T (n.507-1G>T) | |
| 9 | g.133351983C= | CA1882632947 | SURF1 | c.834-1G= (n.834-1G=) n.744-1G= n.824-1G= c.507-1G= (n.507-1G=) | |
| 9 | g.133351983C>G | CA375693417 | SURF1 | c.834-1G>C (n.834-1G>C) n.744-1G>C n.824-1G>C c.507-1G>C (n.507-1G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351983C>T | CA200831949 | SURF1 | c.834-1G>A (n.834-1G>A) n.744-1G>A n.824-1G>A c.507-1G>A (n.507-1G>A) | dbSNP dbSNP gnomAD v4 |