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 |
|---|---|---|---|---|---|
| 10 | g.122489413G>C | CA5725878 | HTRA1 | c.573-9G>C (n.573-9G>C) c.255-9G>C (n.255-9G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.122489413G= | CA1941464646 | HTRA1 | c.573-9G= (n.573-9G=) c.255-9G= (n.255-9G=) | |
| 10 | g.122489413G>T | CA933337050 | HTRA1 | c.573-9G>T (n.573-9G>T) c.255-9G>T (n.255-9G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.122489414G>A | CA5725879 | HTRA1 | c.573-8G>A (n.573-8G>A) c.255-8G>A (n.255-8G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.122489414G= | CA1941464649 | HTRA1 | c.573-8G= (n.573-8G=) c.255-8G= (n.255-8G=) | |
| 10 | g.122489414G>T | CA2611241825 | HTRA1 | c.573-8G>T (n.573-8G>T) c.255-8G>T (n.255-8G>T) | gnomAD v4 |
| 10 | g.122489416T>A | CA2574718875 | HTRA1 | c.573-6T>A (n.573-6T>A) c.255-6T>A (n.255-6T>A) | |
| 10 | g.122489417T>G | CA2611241826 | HTRA1 | c.573-5T>G (n.573-5T>G) c.255-5T>G (n.255-5T>G) | gnomAD v4 |
| 10 | g.122489418T>C | CA2611241827 | HTRA1 | c.573-4T>C (n.573-4T>C) c.255-4T>C (n.255-4T>C) | gnomAD v4 |
| 10 | g.122489418T>G | CA2611241828 | HTRA1 | c.573-4T>G (n.573-4T>G) c.255-4T>G (n.255-4T>G) | gnomAD v4 |
| 10 | g.122489419T>C | CA2789767620 | HTRA1 | c.573-3T>C (n.573-3T>C) c.255-3T>C (n.255-3T>C) | |
| 10 | g.122489420A>C | CA378580697 | HTRA1 | c.573-2A>C (n.573-2A>C) c.255-2A>C (n.255-2A>C) | |
| 10 | g.122489420A>G | CA378580695 | HTRA1 | c.573-2A>G (n.573-2A>G) c.255-2A>G (n.255-2A>G) | |
| 10 | g.122489420A>T | CA378580693 | HTRA1 | c.573-2A>T (n.573-2A>T) c.255-2A>T (n.255-2A>T) | |
| 10 | g.122489421G>A | CA214400969 | HTRA1 | c.573-1G>A (n.573-1G>A) c.255-1G>A (n.255-1G>A) | dbSNP |
| 10 | g.122489421G>C | CA378580702 | HTRA1 | c.573-1G>C (n.573-1G>C) c.255-1G>C (n.255-1G>C) | |
| 10 | g.122489421G= | CA1941464652 | HTRA1 | c.573-1G= (n.573-1G=) c.255-1G= (n.255-1G=) | |
| 10 | g.122489421G>T | CA378580701 | HTRA1 | c.573-1G>T (n.573-1G>T) c.255-1G>T (n.255-1G>T) | |
| 10 | g.122489422G>A | CA471664188 | HTRA1 | c.573G>A (p.Lys191=) c.255G>A (p.Lys85=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.122489422G>C | CA214400970 | HTRA1 | c.573G>C (p.Lys191Asn) c.255G>C (p.Lys85Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.122489422G= | CA1941464655 | HTRA1 | c.573G= (p.Lys191=) c.255G= (p.Lys85=) | |
| 10 | g.122489422G>T | CA378580703 | HTRA1 | c.573G>T (p.Lys191Asn) c.255G>T (p.Lys85Asn) | gnomAD v4 |
| 10 | g.122489423C>A | CA378580704 | HTRA1 | c.574C>A (p.Leu192Ile) c.256C>A (p.Leu86Ile) | |
| 10 | g.122489423C>G | CA378580706 | HTRA1 | c.574C>G (p.Leu192Val) c.256C>G (p.Leu86Val) | |
| 10 | g.122489423C>T | CA378580711 | HTRA1 | c.574C>T (p.Leu192Phe) c.256C>T (p.Leu86Phe) | |
| 10 | g.122489424T>A | CA378580713 | HTRA1 | c.575T>A (p.Leu192His) c.257T>A (p.Leu86His) | |
| 10 | g.122489424T>C | CA378580716 | HTRA1 | c.575T>C (p.Leu192Pro) c.257T>C (p.Leu86Pro) | |
| 10 | g.122489424T>G | CA378580717 | HTRA1 | c.575T>G (p.Leu192Arg) c.257T>G (p.Leu86Arg) | |
| 10 | g.122489425T>A | CA471664189 | HTRA1 | c.576T>A (p.Leu192=) c.258T>A (p.Leu86=) | |
| 10 | g.122489425T>C | CA471664190 | HTRA1 | c.576T>C (p.Leu192=) c.258T>C (p.Leu86=) | |
| 10 | g.122489425T>G | CA471664191 | HTRA1 | c.576T>G (p.Leu192=) c.258T>G (p.Leu86=) | |
| 10 | g.122489426C>A | CA378580723 | HTRA1 | c.577C>A (p.Pro193Thr) c.259C>A (p.Pro87Thr) | |
| 10 | g.122489426C>G | CA378580725 | HTRA1 | c.577C>G (p.Pro193Ala) c.259C>G (p.Pro87Ala) | |
| 10 | g.122489426C>T | CA378580728 | HTRA1 | c.577C>T (p.Pro193Ser) c.259C>T (p.Pro87Ser) | |
| 10 | g.122489427C>A | CA378580730 | HTRA1 | c.578C>A (p.Pro193Gln) c.260C>A (p.Pro87Gln) | |
| 10 | g.122489427C= | CA1941464660 | HTRA1 | c.578C= (p.Pro193=) c.260C= (p.Pro87=) | |
| 10 | g.122489427C>G | CA378580729 | HTRA1 | c.578C>G (p.Pro193Arg) c.260C>G (p.Pro87Arg) | |
| 10 | g.122489427C>T | CA5725880 | HTRA1 | c.578C>T (p.Pro193Leu) c.260C>T (p.Pro87Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.122489428G>A | CA5725881 | HTRA1 | c.579G>A (p.Pro193=) c.261G>A (p.Pro87=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.122489428G>C | CA471664196 | HTRA1 | c.579G>C (p.Pro193=) c.261G>C (p.Pro87=) | |
| 10 | g.122489428G= | CA1941464669 | HTRA1 | c.579G= (p.Pro193=) c.261G= (p.Pro87=) | |
| 10 | g.122489428G>T | CA471664198 | HTRA1 | c.579G>T (p.Pro193=) c.261G>T (p.Pro87=) | gnomAD v4 |
| 10 | g.122489428_122489429delinsGT | CA1941464668 | HTRA1 | c.579_580delinsGT (p.Pro193=) c.261_262delinsGT (p.Pro87=) | |
| 10 | g.122489429T>A | CA378580734 | HTRA1 | c.580T>A (p.Phe194Ile) c.262T>A (p.Phe88Ile) | |
| 10 | g.122489429T>C | CA378580736 | HTRA1 | c.580T>C (p.Phe194Leu) c.262T>C (p.Phe88Leu) | |
| 10 | g.122489429T>G | CA378580737 | HTRA1 | c.580T>G (p.Phe194Val) c.262T>G (p.Phe88Val) | |
| 10 | g.122489432del | CA214400990 | HTRA1 | c.583del (p.Ser195LeufsTer20) c.265del (p.Ser89LeufsTer20) | dbSNP |
| 10 | g.122489430T>A | CA378580740 | HTRA1 | c.581T>A (p.Phe194Tyr) c.263T>A (p.Phe88Tyr) | |
| 10 | g.122489430T>C | CA378580742 | HTRA1 | c.581T>C (p.Phe194Ser) c.263T>C (p.Phe88Ser) | |
| 10 | g.122489430T>G | CA378580743 | HTRA1 | c.581T>G (p.Phe194Cys) c.263T>G (p.Phe88Cys) | |
| 10 | g.122489431T>A | CA378580744 | HTRA1 | c.582T>A (p.Phe194Leu) c.264T>A (p.Phe88Leu) | |
| 10 | g.122489431T>C | CA471664205 | HTRA1 | c.582T>C (p.Phe194=) c.264T>C (p.Phe88=) | |
| 10 | g.122489431T>G | CA378580746 | HTRA1 | c.582T>G (p.Phe194Leu) c.264T>G (p.Phe88Leu) | |
| 10 | g.122489432T>A | CA378580748 | HTRA1 | c.583T>A (p.Ser195Thr) c.265T>A (p.Ser89Thr) | |
| 10 | g.122489432T>C | CA378580750 | HTRA1 | c.583T>C (p.Ser195Pro) c.265T>C (p.Ser89Pro) | |
| 10 | g.122489432T>G | CA378580752 | HTRA1 | c.583T>G (p.Ser195Ala) c.265T>G (p.Ser89Ala) | |
| 10 | g.122489433C>A | CA378580762 | HTRA1 | c.584C>A (p.Ser195Tyr) c.266C>A (p.Ser89Tyr) | |
| 10 | g.122489433C>G | CA378580760 | HTRA1 | c.584C>G (p.Ser195Cys) c.266C>G (p.Ser89Cys) | |
| 10 | g.122489433C>T | CA378580758 | HTRA1 | c.584C>T (p.Ser195Phe) c.266C>T (p.Ser89Phe) | |
| 10 | g.122489434T>A | CA471664215 | HTRA1 | c.585T>A (p.Ser195=) c.267T>A (p.Ser89=) | |
| 10 | g.122489434T>C | CA471664216 | HTRA1 | c.585T>C (p.Ser195=) c.267T>C (p.Ser89=) | |
| 10 | g.122489434T>G | CA471664217 | HTRA1 | c.585T>G (p.Ser195=) c.267T>G (p.Ser89=) | |
| 10 | g.122489435A>C | CA378580768 | HTRA1 | c.586A>C (p.Lys196Gln) c.268A>C (p.Lys90Gln) | |
| 10 | g.122489435A>G | CA378580765 | HTRA1 | c.586A>G (p.Lys196Glu) c.268A>G (p.Lys90Glu) | |
| 10 | g.122489435A>T | CA378580766 | HTRA1 | c.586A>T (p.Lys196Ter) c.268A>T (p.Lys90Ter) | |
| 10 | g.122489436A>C | CA378580770 | HTRA1 | c.587A>C (p.Lys196Thr) c.269A>C (p.Lys90Thr) | |
| 10 | g.122489436A>G | CA378580772 | HTRA1 | c.587A>G (p.Lys196Arg) c.269A>G (p.Lys90Arg) | |
| 10 | g.122489436A>T | CA378580774 | HTRA1 | c.587A>T (p.Lys196Ile) c.269A>T (p.Lys90Ile) | |
| 10 | g.122489437A>C | CA378580775 | HTRA1 | c.588A>C (p.Lys196Asn) c.270A>C (p.Lys90Asn) | |
| 10 | g.122489437A>G | CA471664223 | HTRA1 | c.588A>G (p.Lys196=) c.270A>G (p.Lys90=) | |
| 10 | g.122489437A>T | CA378580777 | HTRA1 | c.588A>T (p.Lys196Asn) c.270A>T (p.Lys90Asn) | |
| 10 | g.122489438C>A | CA471664225 | HTRA1 | c.589C>A (p.Arg197=) c.271C>A (p.Arg91=) | |
| 10 | g.122489438C= | CA1941464673 | HTRA1 | c.589C= (p.Arg197=) c.271C= (p.Arg91=) | |
| 10 | g.122489438C>G | CA378580779 | HTRA1 | c.589C>G (p.Arg197Gly) c.271C>G (p.Arg91Gly) | gnomAD v4 |
| 10 | g.122489438C>T | CA378580781 | HTRA1 | c.589C>T (p.Arg197Ter) c.271C>T (p.Arg91Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.122489439G>A | CA378580788 | HTRA1 | c.590G>A (p.Arg197Gln) c.272G>A (p.Arg91Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.122489439G>C | CA378580790 | HTRA1 | c.590G>C (p.Arg197Pro) c.272G>C (p.Arg91Pro) | |
| 10 | g.122489439G= | CA1941464678 | HTRA1 | c.590G= (p.Arg197=) c.272G= (p.Arg91=) | |
| 10 | g.122489439G>T | CA378580793 | HTRA1 | c.590G>T (p.Arg197Leu) c.272G>T (p.Arg91Leu) | |
| 10 | g.122489440A>C | CA471664231 | HTRA1 | c.591A>C (p.Arg197=) c.273A>C (p.Arg91=) | |
| 10 | g.122489440A>G | CA471664232 | HTRA1 | c.591A>G (p.Arg197=) c.273A>G (p.Arg91=) | |
| 10 | g.122489440A>T | CA471664234 | HTRA1 | c.591A>T (p.Arg197=) c.273A>T (p.Arg91=) | |
| 10 | g.122489441G>A | CA378580796 | HTRA1 | c.592G>A (p.Glu198Lys) c.274G>A (p.Glu92Lys) | |
| 10 | g.122489441G>C | CA378580798 | HTRA1 | c.592G>C (p.Glu198Gln) c.274G>C (p.Glu92Gln) | |
| 10 | g.122489441G>T | CA378580795 | HTRA1 | c.592G>T (p.Glu198Ter) c.274G>T (p.Glu92Ter) | |
| 10 | g.122489442A>C | CA378580801 | HTRA1 | c.593A>C (p.Glu198Ala) c.275A>C (p.Glu92Ala) | |
| 10 | g.122489442A>G | CA378580802 | HTRA1 | c.593A>G (p.Glu198Gly) c.275A>G (p.Glu92Gly) | |
| 10 | g.122489442A>T | CA378580804 | HTRA1 | c.593A>T (p.Glu198Val) c.275A>T (p.Glu92Val) | gnomAD v4 |
| 10 | g.122489443G>A | CA471664237 | HTRA1 | c.594G>A (p.Glu198=) c.276G>A (p.Glu92=) | |
| 10 | g.122489443G>C | CA378580805 | HTRA1 | c.594G>C (p.Glu198Asp) c.276G>C (p.Glu92Asp) | |
| 10 | g.122489443G>T | CA378580806 | HTRA1 | c.594G>T (p.Glu198Asp) c.276G>T (p.Glu92Asp) | |
| 10 | g.122489444G>A | CA378580812 | HTRA1 | c.595G>A (p.Val199Met) c.277G>A (p.Val93Met) | |
| 10 | g.122489444G>C | CA378580808 | HTRA1 | c.595G>C (p.Val199Leu) c.277G>C (p.Val93Leu) | |
| 10 | g.122489444G>T | CA378580810 | HTRA1 | c.595G>T (p.Val199Leu) c.277G>T (p.Val93Leu) | |
| 10 | g.122489445T>A | CA378580814 | HTRA1 | c.596T>A (p.Val199Glu) c.278T>A (p.Val93Glu) | |
| 10 | g.122489445T>C | CA378580815 | HTRA1 | c.596T>C (p.Val199Ala) c.278T>C (p.Val93Ala) | |
| 10 | g.122489445T>G | CA378580816 | HTRA1 | c.596T>G (p.Val199Gly) c.278T>G (p.Val93Gly) | |
| 10 | g.122489446G>A | CA471664246 | HTRA1 | c.597G>A (p.Val199=) c.279G>A (p.Val93=) | |
| 10 | g.122489446G>C | CA471664249 | HTRA1 | c.597G>C (p.Val199=) c.279G>C (p.Val93=) | |
| 10 | g.122489446G= | CA1941464681 | HTRA1 | c.597G= (p.Val199=) c.279G= (p.Val93=) | |
| 10 | g.122489446G>T | CA471664250 | HTRA1 | c.597G>T (p.Val199=) c.279G>T (p.Val93=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.122489447C>A | CA378580817 | HTRA1 | c.598C>A (p.Pro200Thr) c.280C>A (p.Pro94Thr) | |
| 10 | g.122489447C>G | CA378580819 | HTRA1 | c.598C>G (p.Pro200Ala) c.280C>G (p.Pro94Ala) | |
| 10 | g.122489447C>T | CA378580821 | HTRA1 | c.598C>T (p.Pro200Ser) c.280C>T (p.Pro94Ser) | COSMIC |
| 10 | g.122489448C>A | CA378580829 | HTRA1 | c.599C>A (p.Pro200Gln) c.281C>A (p.Pro94Gln) | |
| 10 | g.122489448C= | CA1941464684 | HTRA1 | c.599C= (p.Pro200=) c.281C= (p.Pro94=) | |
| 10 | g.122489448C>G | CA378580831 | HTRA1 | c.599C>G (p.Pro200Arg) c.281C>G (p.Pro94Arg) | |
| 10 | g.122489448C>T | CA5725882 | HTRA1 | c.599C>T (p.Pro200Leu) c.281C>T (p.Pro94Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.122489449G>A | CA471664255 | HTRA1 | c.600G>A (p.Pro200=) c.282G>A (p.Pro94=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.122489449G>C | CA471664256 | HTRA1 | c.600G>C (p.Pro200=) c.282G>C (p.Pro94=) | |
| 10 | g.122489449G= | CA1941464687 | HTRA1 | c.600G= (p.Pro200=) c.282G= (p.Pro94=) | |
| 10 | g.122489449G>T | CA471664258 | HTRA1 | c.600G>T (p.Pro200=) c.282G>T (p.Pro94=) | |
| 10 | g.122489450G>A | CA378580832 | HTRA1 | c.601G>A (p.Val201Met) c.283G>A (p.Val95Met) | |
| 10 | g.122489450G>C | CA378580834 | HTRA1 | c.601G>C (p.Val201Leu) c.283G>C (p.Val95Leu) | |
| 10 | g.122489450G>T | CA378580836 | HTRA1 | c.601G>T (p.Val201Leu) c.283G>T (p.Val95Leu) | |
| 10 | g.122489451T>A | CA378580838 | HTRA1 | c.602T>A (p.Val201Glu) c.284T>A (p.Val95Glu) | |
| 10 | g.122489451T>C | CA378580840 | HTRA1 | c.602T>C (p.Val201Ala) c.284T>C (p.Val95Ala) | |
| 10 | g.122489451T>G | CA378580842 | HTRA1 | c.602T>G (p.Val201Gly) c.284T>G (p.Val95Gly) | |
| 10 | g.122489452G>A | CA5725883 | HTRA1 | c.603G>A (p.Val201=) c.285G>A (p.Val95=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.122489452G>C | CA471664265 | HTRA1 | c.603G>C (p.Val201=) c.285G>C (p.Val95=) | |
| 10 | g.122489452G= | CA1941464690 | HTRA1 | c.603G= (p.Val201=) c.285G= (p.Val95=) | |
| 10 | g.122489452G>T | CA471664267 | HTRA1 | c.603G>T (p.Val201=) c.285G>T (p.Val95=) | |
| 10 | g.122489453G>A | CA378580846 | HTRA1 | c.604G>A (p.Ala202Thr) c.286G>A (p.Ala96Thr) | gnomAD v4 |
| 10 | g.122489453G>C | CA378580848 | HTRA1 | c.604G>C (p.Ala202Pro) c.286G>C (p.Ala96Pro) | |
| 10 | g.122489453G>T | CA378580850 | HTRA1 | c.604G>T (p.Ala202Ser) c.286G>T (p.Ala96Ser) | |
| 10 | g.122489454C>A | CA378580857 | HTRA1 | c.605C>A (p.Ala202Asp) c.287C>A (p.Ala96Asp) | |
| 10 | g.122489454C>G | CA378580859 | HTRA1 | c.605C>G (p.Ala202Gly) c.287C>G (p.Ala96Gly) | |
| 10 | g.122489454C>T | CA378580860 | HTRA1 | c.605C>T (p.Ala202Val) c.287C>T (p.Ala96Val) | |
| 10 | g.122489455T>A | CA471664277 | HTRA1 | c.606T>A (p.Ala202=) c.288T>A (p.Ala96=) | |
| 10 | g.122489455T>C | CA471664278 | HTRA1 | c.606T>C (p.Ala202=) c.288T>C (p.Ala96=) | |
| 10 | g.122489455T>G | CA471664279 | HTRA1 | c.606T>G (p.Ala202=) c.288T>G (p.Ala96=) | |
| 10 | g.122489456A>C | CA378580864 | HTRA1 | c.607A>C (p.Ser203Arg) c.289A>C (p.Ser97Arg) | |
| 10 | g.122489456A>G | CA378580863 | HTRA1 | c.607A>G (p.Ser203Gly) c.289A>G (p.Ser97Gly) | |
| 10 | g.122489456A>T | CA378580862 | HTRA1 | c.607A>T (p.Ser203Cys) c.289A>T (p.Ser97Cys) | |
| 10 | g.122489457G>A | CA378580865 | HTRA1 | c.608G>A (p.Ser203Asn) c.290G>A (p.Ser97Asn) | dbSNP gnomAD v4 |
| 10 | g.122489457G>C | CA378580867 | HTRA1 | c.608G>C (p.Ser203Thr) c.290G>C (p.Ser97Thr) | |
| 10 | g.122489457G= | CA1941464693 | HTRA1 | c.608G= (p.Ser203=) c.290G= (p.Ser97=) | |
| 10 | g.122489457G>T | CA378580868 | HTRA1 | c.608G>T (p.Ser203Ile) c.290G>T (p.Ser97Ile) | |
| 10 | g.122489458T>A | CA378580871 | HTRA1 | c.609T>A (p.Ser203Arg) c.291T>A (p.Ser97Arg) | |
| 10 | g.122489458T>C | CA471664284 | HTRA1 | c.609T>C (p.Ser203=) c.291T>C (p.Ser97=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.122489458T>G | CA378580874 | HTRA1 | c.609T>G (p.Ser203Arg) c.291T>G (p.Ser97Arg) | |
| 10 | g.122489458T= | CA1941464694 | HTRA1 | c.609T= (p.Ser203=) c.291T= (p.Ser97=) | |
| 10 | g.122489459G>A | CA378580878 | HTRA1 | c.610G>A (p.Gly204Arg) c.292G>A (p.Gly98Arg) | ClinVar |
| 10 | g.122489459G>C | CA378580880 | HTRA1 | c.610G>C (p.Gly204Arg) c.292G>C (p.Gly98Arg) | |
| 10 | g.122489459G>T | CA378580882 | HTRA1 | c.610G>T (p.Gly204Trp) c.292G>T (p.Gly98Trp) | |
| 10 | g.122489460G>A | CA378580884 | HTRA1 | c.611G>A (p.Gly204Glu) c.293G>A (p.Gly98Glu) | |
| 10 | g.122489460G>C | CA378580885 | HTRA1 | c.611G>C (p.Gly204Ala) c.293G>C (p.Gly98Ala) | |
| 10 | g.122489460G>T | CA378580887 | HTRA1 | c.611G>T (p.Gly204Val) c.293G>T (p.Gly98Val) | |
| 10 | g.122489461G>A | CA471664291 | HTRA1 | c.612G>A (p.Gly204=) c.294G>A (p.Gly98=) | |
| 10 | g.122489461G>C | CA471664292 | HTRA1 | c.612G>C (p.Gly204=) c.294G>C (p.Gly98=) | |
| 10 | g.122489461G= | CA1941464695 | HTRA1 | c.612G= (p.Gly204=) c.294G= (p.Gly98=) | |
| 10 | g.122489461G>T | CA471664293 | HTRA1 | c.612G>T (p.Gly204=) c.294G>T (p.Gly98=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.122489462T>A | CA378580889 | HTRA1 | c.613T>A (p.Ser205Thr) c.295T>A (p.Ser99Thr) | |
| 10 | g.122489462T>C | CA378580891 | HTRA1 | c.613T>C (p.Ser205Pro) c.295T>C (p.Ser99Pro) | |
| 10 | g.122489462T>G | CA378580893 | HTRA1 | c.613T>G (p.Ser205Ala) c.295T>G (p.Ser99Ala) | dbSNP |
| 10 | g.122489462T= | CA1941464697 | HTRA1 | c.613T= (p.Ser205=) c.295T= (p.Ser99=) | |
| 10 | g.122489463C>A | CA378580897 | HTRA1 | c.614C>A (p.Ser205Tyr) c.296C>A (p.Ser99Tyr) | |
| 10 | g.122489463C= | CA1941464700 | HTRA1 | c.614C= (p.Ser205=) c.296C= (p.Ser99=) | |
| 10 | g.122489463C>G | CA378580899 | HTRA1 | c.614C>G (p.Ser205Cys) c.296C>G (p.Ser99Cys) | ClinVar dbSNP |
| 10 | g.122489463C>T | CA378580895 | HTRA1 | c.614C>T (p.Ser205Phe) c.296C>T (p.Ser99Phe) | COSMIC |
| 10 | g.122489464T>A | CA471664300 | HTRA1 | c.615T>A (p.Ser205=) c.297T>A (p.Ser99=) | |
| 10 | g.122489464T>C | CA471664301 | HTRA1 | c.615T>C (p.Ser205=) c.297T>C (p.Ser99=) | |
| 10 | g.122489464T>G | CA471664303 | HTRA1 | c.615T>G (p.Ser205=) c.297T>G (p.Ser99=) | |
| 10 | g.122489465G>A | CA378580906 | HTRA1 | c.616G>A (p.Gly206Arg) c.298G>A (p.Gly100Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.122489465G>C | CA378580908 | HTRA1 | c.616G>C (p.Gly206Arg) c.298G>C (p.Gly100Arg) | |
| 10 | g.122489465G= | CA1941464707 | HTRA1 | c.616G= (p.Gly206=) c.298G= (p.Gly100=) | |
| 10 | g.122489465G>T | CA378580910 | HTRA1 | c.616G>T (p.Gly206Trp) c.298G>T (p.Gly100Trp) | |
| 10 | g.122489466G>A | CA378580912 | HTRA1 | c.617G>A (p.Gly206Glu) c.299G>A (p.Gly100Glu) | |
| 10 | g.122489466G>C | CA378580914 | HTRA1 | c.617G>C (p.Gly206Ala) c.299G>C (p.Gly100Ala) | |
| 10 | g.122489466G>T | CA378580916 | HTRA1 | c.617G>T (p.Gly206Val) c.299G>T (p.Gly100Val) | |
| 10 | g.122489467G>A | CA471664309 | HTRA1 | c.618G>A (p.Gly206=) c.300G>A (p.Gly100=) | |
| 10 | g.122489467G>C | CA471664311 | HTRA1 | c.618G>C (p.Gly206=) c.300G>C (p.Gly100=) | |
| 10 | g.122489467G>T | CA471664313 | HTRA1 | c.618G>T (p.Gly206=) c.300G>T (p.Gly100=) | gnomAD v4 |
| 10 | g.122489468T>A | CA378580926 | HTRA1 | c.619T>A (p.Phe207Ile) c.301T>A (p.Phe101Ile) | |
| 10 | g.122489468T>C | CA378580919 | HTRA1 | c.619T>C (p.Phe207Leu) c.301T>C (p.Phe101Leu) | |
| 10 | g.122489468T>G | CA378580921 | HTRA1 | c.619T>G (p.Phe207Val) c.301T>G (p.Phe101Val) | dbSNP |
| 10 | g.122489468T= | CA1941464712 | HTRA1 | c.619T= (p.Phe207=) c.301T= (p.Phe101=) | |
| 10 | g.122489469T>A | CA378580928 | HTRA1 | c.620T>A (p.Phe207Tyr) c.302T>A (p.Phe101Tyr) | |
| 10 | g.122489469T>C | CA378580929 | HTRA1 | c.620T>C (p.Phe207Ser) c.302T>C (p.Phe101Ser) | |
| 10 | g.122489469T>G | CA378580930 | HTRA1 | c.620T>G (p.Phe207Cys) c.302T>G (p.Phe101Cys) | |
| 10 | g.122489470T>A | CA378580931 | HTRA1 | c.621T>A (p.Phe207Leu) c.303T>A (p.Phe101Leu) | |
| 10 | g.122489470T>C | CA471664318 | HTRA1 | c.621T>C (p.Phe207=) c.303T>C (p.Phe101=) | |
| 10 | g.122489470T>G | CA378580933 | HTRA1 | c.621T>G (p.Phe207Leu) c.303T>G (p.Phe101Leu) | |
| 10 | g.122489471A= | CA1941464717 | HTRA1 | c.622A= (p.Ile208=) c.304A= (p.Ile102=) | |
| 10 | g.122489471A>C | CA378580935 | HTRA1 | c.622A>C (p.Ile208Leu) c.304A>C (p.Ile102Leu) | |
| 10 | g.122489471A>G | CA378580939 | HTRA1 | c.622A>G (p.Ile208Val) c.304A>G (p.Ile102Val) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.122489471A>T | CA378580937 | HTRA1 | c.622A>T (p.Ile208Phe) c.304A>T (p.Ile102Phe) | |
| 10 | g.122489472T>A | CA378580941 | HTRA1 | c.623T>A (p.Ile208Asn) c.305T>A (p.Ile102Asn) | |
| 10 | g.122489472T>C | CA378580943 | HTRA1 | c.623T>C (p.Ile208Thr) c.305T>C (p.Ile102Thr) | COSMIC |
| 10 | g.122489472T>G | CA378580945 | HTRA1 | c.623T>G (p.Ile208Ser) c.305T>G (p.Ile102Ser) | |
| 10 | g.122489473T>A | CA471664325 | HTRA1 | c.624T>A (p.Ile208=) c.306T>A (p.Ile102=) | |
| 10 | g.122489473T>C | CA471664326 | HTRA1 | c.624T>C (p.Ile208=) c.306T>C (p.Ile102=) | ClinVar |
| 10 | g.122489473T>G | CA378580947 | HTRA1 | c.624T>G (p.Ile208Met) c.306T>G (p.Ile102Met) | |
| 10 | g.122489474G>A | CA378580949 | HTRA1 | c.625G>A (p.Val209Met) c.307G>A (p.Val103Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.122489474G>C | CA378580951 | HTRA1 | c.625G>C (p.Val209Leu) c.307G>C (p.Val103Leu) | |
| 10 | g.122489474G= | CA1941464722 | HTRA1 | c.625G= (p.Val209=) c.307G= (p.Val103=) | |
| 10 | g.122489474G>T | CA378580953 | HTRA1 | c.625G>T (p.Val209Leu) c.307G>T (p.Val103Leu) | |
| 10 | g.122489475T>A | CA378580956 | HTRA1 | c.626T>A (p.Val209Glu) c.308T>A (p.Val103Glu) | |
| 10 | g.122489475T>C | CA5725884 | HTRA1 | c.626T>C (p.Val209Ala) c.308T>C (p.Val103Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.122489475T>G | CA378580959 | HTRA1 | c.626T>G (p.Val209Gly) c.308T>G (p.Val103Gly) | |
| 10 | g.122489475T= | CA1941464727 | HTRA1 | c.626T= (p.Val209=) c.308T= (p.Val103=) | |
| 10 | g.122489476G>A | CA471664333 | HTRA1 | c.627G>A (p.Val209=) c.309G>A (p.Val103=) | |
| 10 | g.122489476G>C | CA471664334 | HTRA1 | c.627G>C (p.Val209=) c.309G>C (p.Val103=) | |
| 10 | g.122489476G>T | CA471664336 | HTRA1 | c.627G>T (p.Val209=) c.309G>T (p.Val103=) | |
| 10 | g.122489477T>A | CA378580961 | HTRA1 | c.628T>A (p.Ser210Thr) c.310T>A (p.Ser104Thr) | |
| 10 | g.122489477T>C | CA378580965 | HTRA1 | c.628T>C (p.Ser210Pro) c.310T>C (p.Ser104Pro) | |
| 10 | g.122489477T>G | CA378580963 | HTRA1 | c.628T>G (p.Ser210Ala) c.310T>G (p.Ser104Ala) | |
| 10 | g.122489478C>A | CA378580972 | HTRA1 | c.629C>A (p.Ser210Ter) c.311C>A (p.Ser104Ter) | |
| 10 | g.122489478C= | CA1941464730 | HTRA1 | c.629C= (p.Ser210=) c.311C= (p.Ser104=) | |
| 10 | g.122489478C>G | CA378580973 | HTRA1 | c.629C>G (p.Ser210Trp) c.311C>G (p.Ser104Trp) | |
| 10 | g.122489478C>T | CA5725885 | HTRA1 | c.629C>T (p.Ser210Leu) c.311C>T (p.Ser104Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.122489479G>A | CA5725886 | HTRA1 | c.630G>A (p.Ser210=) c.312G>A (p.Ser104=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.122489479G>C | CA471664344 | HTRA1 | c.630G>C (p.Ser210=) c.312G>C (p.Ser104=) | |
| 10 | g.122489479G= | CA1941464732 | HTRA1 | c.630G= (p.Ser210=) c.312G= (p.Ser104=) | |
| 10 | g.122489479G>T | CA471664342 | HTRA1 | c.630G>T (p.Ser210=) c.312G>T (p.Ser104=) | |
| 10 | g.122489480G>A | CA378580978 | HTRA1 | c.631G>A (p.Glu211Lys) c.313G>A (p.Glu105Lys) | COSMIC |
| 10 | g.122489480G>C | CA378580974 | HTRA1 | c.631G>C (p.Glu211Gln) c.313G>C (p.Glu105Gln) | |
| 10 | g.122489480G>T | CA378580977 | HTRA1 | c.631G>T (p.Glu211Ter) c.313G>T (p.Glu105Ter) | |
| 10 | g.122489481A>C | CA378580981 | HTRA1 | c.632A>C (p.Glu211Ala) c.314A>C (p.Glu105Ala) | ClinVar gnomAD v4 |
| 10 | g.122489481A>G | CA378580983 | HTRA1 | c.632A>G (p.Glu211Gly) c.314A>G (p.Glu105Gly) | |
| 10 | g.122489481A>T | CA378580985 | HTRA1 | c.632A>T (p.Glu211Val) c.314A>T (p.Glu105Val) | |
| 10 | g.122489482A= | CA1941464738 | HTRA1 | c.633A= (p.Glu211=) c.315A= (p.Glu105=) | |
| 10 | g.122489482A>C | CA378580993 | HTRA1 | c.633A>C (p.Glu211Asp) c.315A>C (p.Glu105Asp) | |
| 10 | g.122489482A>G | CA471664351 | HTRA1 | c.633A>G (p.Glu211=) c.315A>G (p.Glu105=) | |
| 10 | g.122489482A>T | CA214400998 | HTRA1 | c.633A>T (p.Glu211Asp) c.315A>T (p.Glu105Asp) | dbSNP gnomAD v4 |
| 10 | g.122489483G>A | CA378580996 | HTRA1 | c.634G>A (p.Asp212Asn) c.316G>A (p.Asp106Asn) | |
| 10 | g.122489483G>C | CA378580997 | HTRA1 | c.634G>C (p.Asp212His) c.316G>C (p.Asp106His) | dbSNP |
| 10 | g.122489483G= | CA1941464741 | HTRA1 | c.634G= (p.Asp212=) c.316G= (p.Asp106=) | |
| 10 | g.122489483G>T | CA378580998 | HTRA1 | c.634G>T (p.Asp212Tyr) c.316G>T (p.Asp106Tyr) | |
| 10 | g.122489484A>C | CA378581008 | HTRA1 | c.635A>C (p.Asp212Ala) c.317A>C (p.Asp106Ala) | |
| 10 | g.122489484A>G | CA378581001 | HTRA1 | c.635A>G (p.Asp212Gly) c.317A>G (p.Asp106Gly) | |
| 10 | g.122489484A>T | CA378581000 | HTRA1 | c.635A>T (p.Asp212Val) c.317A>T (p.Asp106Val) | |
| 10 | g.122489485T>A | CA378581010 | HTRA1 | c.636T>A (p.Asp212Glu) c.318T>A (p.Asp106Glu) | |
| 10 | g.122489485T>C | CA5725887 | HTRA1 | c.636T>C (p.Asp212=) c.318T>C (p.Asp106=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.122489485T>G | CA378581011 | HTRA1 | c.636T>G (p.Asp212Glu) c.318T>G (p.Asp106Glu) | |
| 10 | g.122489485T= | CA1941464743 | HTRA1 | c.636T= (p.Asp212=) c.318T= (p.Asp106=) | |
| 10 | g.122489486G>A | CA378581012 | HTRA1 | c.637G>A (p.Gly213Arg) c.319G>A (p.Gly107Arg) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.122489486G>C | CA378581013 | HTRA1 | c.637G>C (p.Gly213Arg) c.319G>C (p.Gly107Arg) | |
| 10 | g.122489486G= | CA1941464747 | HTRA1 | c.637G= (p.Gly213=) c.319G= (p.Gly107=) | |
| 10 | g.122489486G>T | CA378581014 | HTRA1 | c.637G>T (p.Gly213Ter) c.319G>T (p.Gly107Ter) | |
| 10 | g.122489487G>A | CA378581015 | HTRA1 | c.638G>A (p.Gly213Glu) c.320G>A (p.Gly107Glu) | |
| 10 | g.122489487G>C | CA378581024 | HTRA1 | c.638G>C (p.Gly213Ala) c.320G>C (p.Gly107Ala) | |
| 10 | g.122489487G>T | CA378581026 | HTRA1 | c.638G>T (p.Gly213Val) c.320G>T (p.Gly107Val) | gnomAD v4 |
| 10 | g.122489488A>C | CA471664361 | HTRA1 | c.639A>C (p.Gly213=) c.321A>C (p.Gly107=) | |
| 10 | g.122489488A>G | CA471664362 | HTRA1 | c.639A>G (p.Gly213=) c.321A>G (p.Gly107=) | |
| 10 | g.122489488A>T | CA471664364 | HTRA1 | c.639A>T (p.Gly213=) c.321A>T (p.Gly107=) | |
| 10 | g.122489489C>A | CA378581028 | HTRA1 | c.640C>A (p.Leu214Met) c.322C>A (p.Leu108Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.122489489C= | CA1941464750 | HTRA1 | c.640C= (p.Leu214=) c.322C= (p.Leu108=) | |
| 10 | g.122489489C>G | CA378581029 | HTRA1 | c.640C>G (p.Leu214Val) c.322C>G (p.Leu108Val) | |
| 10 | g.122489489C>T | CA471664367 | HTRA1 | c.640C>T (p.Leu214=) c.322C>T (p.Leu108=) | |
| 10 | g.122489490T>A | CA214401007 | HTRA1 | c.641T>A (p.Leu214Gln) c.323T>A (p.Leu108Gln) | dbSNP |
| 10 | g.122489490T>C | CA378581032 | HTRA1 | c.641T>C (p.Leu214Pro) c.323T>C (p.Leu108Pro) | |
| 10 | g.122489490T>G | CA378581031 | HTRA1 | c.641T>G (p.Leu214Arg) c.323T>G (p.Leu108Arg) | |
| 10 | g.122489490T= | CA1941464754 | HTRA1 | c.641T= (p.Leu214=) c.323T= (p.Leu108=) | |
| 10 | g.122489491G>A | CA471664370 | HTRA1 | c.642G>A (p.Leu214=) c.324G>A (p.Leu108=) | dbSNP COSMIC |
| 10 | g.122489491G>C | CA471664372 | HTRA1 | c.642G>C (p.Leu214=) c.324G>C (p.Leu108=) | |
| 10 | g.122489491G= | CA1941464758 | HTRA1 | c.642G= (p.Leu214=) c.324G= (p.Leu108=) | |
| 10 | g.122489491G>T | CA471664374 | HTRA1 | c.642G>T (p.Leu214=) c.324G>T (p.Leu108=) | |
| 10 | g.122489492A= | CA1941464762 | HTRA1 | c.643A= (p.Ile215=) c.325A= (p.Ile109=) | |
| 10 | g.122489492A>C | CA378581033 | HTRA1 | c.643A>C (p.Ile215Leu) c.325A>C (p.Ile109Leu) | |
| 10 | g.122489492A>G | CA378581035 | HTRA1 | c.643A>G (p.Ile215Val) c.325A>G (p.Ile109Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.122489492A>T | CA378581037 | HTRA1 | c.643A>T (p.Ile215Phe) c.325A>T (p.Ile109Phe) | |
| 10 | g.122489493T>A | CA378581038 | HTRA1 | c.644T>A (p.Ile215Asn) c.326T>A (p.Ile109Asn) | |
| 10 | g.122489493T>C | CA378581039 | HTRA1 | c.644T>C (p.Ile215Thr) c.326T>C (p.Ile109Thr) | |
| 10 | g.122489493T>G | CA378581040 | HTRA1 | c.644T>G (p.Ile215Ser) c.326T>G (p.Ile109Ser) | |
| 10 | g.122489494del | CA2611241875 | HTRA1 | c.645del (p.Ile215MetfsTer2) c.327del (p.Ile109MetfsTer2) | gnomAD v4 |
| 10 | g.122489494C>A | CA471664379 | HTRA1 | c.645C>A (p.Ile215=) c.327C>A (p.Ile109=) | dbSNP gnomAD v4 |
| 10 | g.122489494C= | CA1941464765 | HTRA1 | c.645C= (p.Ile215=) c.327C= (p.Ile109=) | |
| 10 | g.122489494C>G | CA378581042 | HTRA1 | c.645C>G (p.Ile215Met) c.327C>G (p.Ile109Met) | dbSNP |
| 10 | g.122489494C>T | CA5725888 | HTRA1 | c.645C>T (p.Ile215=) c.327C>T (p.Ile109=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.122489494_122489495insCA | CA2611241879 | HTRA1 | c.645_646insCA (p.Val216GlnfsTer2) c.327_328insCA (p.Val110GlnfsTer2) | gnomAD v4 |
| 10 | g.122489495G>A | CA5725889 | HTRA1 | c.646G>A (p.Val216Met) c.328G>A (p.Val110Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.122489495G>C | CA378581044 | HTRA1 | c.646G>C (p.Val216Leu) c.328G>C (p.Val110Leu) | |
| 10 | g.122489495G= | CA1941464771 | HTRA1 | c.646G= (p.Val216=) c.328G= (p.Val110=) | |
| 10 | g.122489495G>T | CA378581045 | HTRA1 | c.646G>T (p.Val216Leu) c.328G>T (p.Val110Leu) | dbSNP |
| 10 | g.122489496del | CA2695212886 | HTRA1 | c.647del (p.Val216GlyfsTer7) c.329del (p.Val110GlyfsTer7) | |
| 10 | g.122489496T>A | CA378581055 | HTRA1 | c.647T>A (p.Val216Glu) c.329T>A (p.Val110Glu) | gnomAD v4 |
| 10 | g.122489496T>C | CA378581056 | HTRA1 | c.647T>C (p.Val216Ala) c.329T>C (p.Val110Ala) | |
| 10 | g.122489496T>G | CA378581054 | HTRA1 | c.647T>G (p.Val216Gly) c.329T>G (p.Val110Gly) | |
| 10 | g.122489497G>A | CA471664386 | HTRA1 | c.648G>A (p.Val216=) c.330G>A (p.Val110=) | |
| 10 | g.122489497G>C | CA471664388 | HTRA1 | c.648G>C (p.Val216=) c.330G>C (p.Val110=) | |
| 10 | g.122489497G>T | CA471664390 | HTRA1 | c.648G>T (p.Val216=) c.330G>T (p.Val110=) | |
| 10 | g.122489498A>C | CA378581058 | HTRA1 | c.649A>C (p.Thr217Pro) c.331A>C (p.Thr111Pro) | |
| 10 | g.122489498A>G | CA378581066 | HTRA1 | c.649A>G (p.Thr217Ala) c.331A>G (p.Thr111Ala) | |
| 10 | g.122489498A>T | CA378581068 | HTRA1 | c.649A>T (p.Thr217Ser) c.331A>T (p.Thr111Ser) | |
| 10 | g.122489499C>A | CA378581070 | HTRA1 | c.650C>A (p.Thr217Lys) c.332C>A (p.Thr111Lys) | |
| 10 | g.122489499C>G | CA378581072 | HTRA1 | c.650C>G (p.Thr217Arg) c.332C>G (p.Thr111Arg) | |
| 10 | g.122489499C>T | CA378581073 | HTRA1 | c.650C>T (p.Thr217Ile) c.332C>T (p.Thr111Ile) | |
| 10 | g.122489500A>C | CA471664397 | HTRA1 | c.651A>C (p.Thr217=) c.333A>C (p.Thr111=) | |
| 10 | g.122489500A>G | CA471664398 | HTRA1 | c.651A>G (p.Thr217=) c.333A>G (p.Thr111=) | |
| 10 | g.122489500A>T | CA471664395 | HTRA1 | c.651A>T (p.Thr217=) c.333A>T (p.Thr111=) | |
| 10 | g.122489501A>C | CA378581074 | HTRA1 | c.652A>C (p.Asn218His) c.334A>C (p.Asn112His) | |
| 10 | g.122489501A>G | CA378581076 | HTRA1 | c.652A>G (p.Asn218Asp) c.334A>G (p.Asn112Asp) | |
| 10 | g.122489501A>T | CA378581075 | HTRA1 | c.652A>T (p.Asn218Tyr) c.334A>T (p.Asn112Tyr) | |
| 10 | g.122489502A>C | CA378581078 | HTRA1 | c.653A>C (p.Asn218Thr) c.335A>C (p.Asn112Thr) | |
| 10 | g.122489502A>G | CA378581079 | HTRA1 | c.653A>G (p.Asn218Ser) c.335A>G (p.Asn112Ser) | |
| 10 | g.122489502A>T | CA378581080 | HTRA1 | c.653A>T (p.Asn218Ile) c.335A>T (p.Asn112Ile) | |
| 10 | g.122489503T>A | CA378581081 | HTRA1 | c.654T>A (p.Asn218Lys) c.336T>A (p.Asn112Lys) | |
| 10 | g.122489503T>C | CA471664405 | HTRA1 | c.654T>C (p.Asn218=) c.336T>C (p.Asn112=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.122489503T>G | CA378581083 | HTRA1 | c.654T>G (p.Asn218Lys) c.336T>G (p.Asn112Lys) | |
| 10 | g.122489503T= | CA1941464778 | HTRA1 | c.654T= (p.Asn218=) c.336T= (p.Asn112=) | |
| 10 | g.122489504G>A | CA378581087 | HTRA1 | c.655G>A (p.Ala219Thr) c.337G>A (p.Ala113Thr) | |
| 10 | g.122489504G>C | CA378581089 | HTRA1 | c.655G>C (p.Ala219Pro) c.337G>C (p.Ala113Pro) | |
| 10 | g.122489504G>T | CA378581085 | HTRA1 | c.655G>T (p.Ala219Ser) c.337G>T (p.Ala113Ser) | |
| 10 | g.122489505C>A | CA378581092 | HTRA1 | c.656C>A (p.Ala219Asp) c.338C>A (p.Ala113Asp) | |
| 10 | g.122489505C>G | CA378581094 | HTRA1 | c.656C>G (p.Ala219Gly) c.338C>G (p.Ala113Gly) | |
| 10 | g.122489505C>T | CA378581096 | HTRA1 | c.656C>T (p.Ala219Val) c.338C>T (p.Ala113Val) | COSMIC |
| 10 | g.122489506C>A | CA471664411 | HTRA1 | c.657C>A (p.Ala219=) c.339C>A (p.Ala113=) | |
| 10 | g.122489506C>G | CA471664413 | HTRA1 | c.657C>G (p.Ala219=) c.339C>G (p.Ala113=) | dbSNP |
| 10 | g.122489506C>T | CA471664415 | HTRA1 | c.657C>T (p.Ala219=) c.339C>T (p.Ala113=) | gnomAD v4 |
| 10 | g.122489507C>A | CA378581099 | HTRA1 | c.658C>A (p.His220Asn) c.340C>A (p.His114Asn) | |
| 10 | g.122489507C>G | CA378581101 | HTRA1 | c.658C>G (p.His220Asp) c.340C>G (p.His114Asp) | |
| 10 | g.122489507C>T | CA378581103 | HTRA1 | c.658C>T (p.His220Tyr) c.340C>T (p.His114Tyr) | |
| 10 | g.122489508A>C | CA378581110 | HTRA1 | c.659A>C (p.His220Pro) c.341A>C (p.His114Pro) | |
| 10 | g.122489508A>G | CA378581105 | HTRA1 | c.659A>G (p.His220Arg) c.341A>G (p.His114Arg) | |
| 10 | g.122489508A>T | CA378581108 | HTRA1 | c.659A>T (p.His220Leu) c.341A>T (p.His114Leu) | |
| 10 | g.122489509C>A | CA378581112 | HTRA1 | c.660C>A (p.His220Gln) c.342C>A (p.His114Gln) | dbSNP |
| 10 | g.122489509C= | CA1941464784 | HTRA1 | c.660C= (p.His220=) c.342C= (p.His114=) | |
| 10 | g.122489509C>G | CA378581114 | HTRA1 | c.660C>G (p.His220Gln) c.342C>G (p.His114Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.122489509C>T | CA471664422 | HTRA1 | c.660C>T (p.His220=) c.342C>T (p.His114=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.122489510G>A | CA378581116 | HTRA1 | c.661G>A (p.Val221Met) c.343G>A (p.Val115Met) | gnomAD v4 |
| 10 | g.122489510G>C | CA378581117 | HTRA1 | c.661G>C (p.Val221Leu) c.343G>C (p.Val115Leu) | |
| 10 | g.122489510G>T | CA378581119 | HTRA1 | c.661G>T (p.Val221Leu) c.343G>T (p.Val115Leu) | gnomAD v4 |
| 10 | g.122489511T>A | CA378581124 | HTRA1 | c.662T>A (p.Val221Glu) c.344T>A (p.Val115Glu) | |
| 10 | g.122489511T>C | CA378581121 | HTRA1 | c.662T>C (p.Val221Ala) c.344T>C (p.Val115Ala) | |
| 10 | g.122489511T>G | CA378581123 | HTRA1 | c.662T>G (p.Val221Gly) c.344T>G (p.Val115Gly) | |
| 10 | g.122489512G>A | CA5725890 | HTRA1 | c.663G>A (p.Val221=) c.345G>A (p.Val115=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.122489512G>C | CA471664428 | HTRA1 | c.663G>C (p.Val221=) c.345G>C (p.Val115=) | gnomAD v4 |
| 10 | g.122489512G= | CA1941464794 | HTRA1 | c.663G= (p.Val221=) c.345G= (p.Val115=) | |
| 10 | g.122489512G>T | CA471664430 | HTRA1 | c.663G>T (p.Val221=) c.345G>T (p.Val115=) | |
| 10 | g.122489513G>A | CA378581127 | HTRA1 | c.664G>A (p.Val222Met) c.346G>A (p.Val116Met) | |
| 10 | g.122489513G>C | CA378581128 | HTRA1 | c.664G>C (p.Val222Leu) c.346G>C (p.Val116Leu) | |
| 10 | g.122489513G>T | CA378581129 | HTRA1 | c.664G>T (p.Val222Leu) c.346G>T (p.Val116Leu) |