WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.130433393dup | CA2786081121 | HMCN2 | c.14883dup (p.Ser4962LeufsTer?) c.14940dup (p.Ser4981LeufsTer?) n.3286dup c.14880dup (p.Ser4961LeufsTer?) c.14817dup (p.Ser4940LeufsTer?) c.14808dup (p.Ser4937LeufsTer?) c.14763dup (p.Ser4922LeufsTer?) c.11721dup (p.Ser3908LeufsTer?) c.7518dup (p.Ser2507LeufsTer?) n.92+231dup | |
| 9 | g.130433393del | CA2692135581 | HMCN2 | c.14883del (p.Ser4962LeufsTer?) c.14940del (p.Ser4981LeufsTer?) n.3286del c.14880del (p.Ser4961LeufsTer?) c.14817del (p.Ser4940LeufsTer?) c.14808del (p.Ser4937LeufsTer?) c.14763del (p.Ser4922LeufsTer?) c.11721del (p.Ser3908LeufsTer?) c.7518del (p.Ser2507LeufsTer?) n.92+231del | gnomAD v4 |
| 9 | g.130433393C>A | CA200583081 | HMCN2 | c.14883C>A (p.Pro4961=) c.14940C>A (p.Pro4980=) n.3286C>A c.14880C>A (p.Pro4960=) c.14817C>A (p.Pro4939=) c.14808C>A (p.Pro4936=) c.14763C>A (p.Pro4921=) c.11721C>A (p.Pro3907=) c.7518C>A (p.Pro2506=) n.92+228G>T | dbSNP gnomAD v4 |
| 9 | g.130433393C= | CA1881266234 | HMCN2 | c.14883C= (p.Pro4961=) c.14940C= (p.Pro4980=) n.3286C= c.14880C= (p.Pro4960=) c.14817C= (p.Pro4939=) c.14808C= (p.Pro4936=) c.14763C= (p.Pro4921=) c.11721C= (p.Pro3907=) c.7518C= (p.Pro2506=) n.92+228G= | |
| 9 | g.130433393C>G | CA467387208 | HMCN2 | c.14883C>G (p.Pro4961=) c.14940C>G (p.Pro4980=) n.3286C>G c.14880C>G (p.Pro4960=) c.14817C>G (p.Pro4939=) c.14808C>G (p.Pro4936=) c.14763C>G (p.Pro4921=) c.11721C>G (p.Pro3907=) c.7518C>G (p.Pro2506=) n.92+228G>C | gnomAD v4 |
| 9 | g.130433393C>T | CA5283046 | HMCN2 | c.14883C>T (p.Pro4961=) c.14940C>T (p.Pro4980=) n.3286C>T c.14880C>T (p.Pro4960=) c.14817C>T (p.Pro4939=) c.14808C>T (p.Pro4936=) c.14763C>T (p.Pro4921=) c.11721C>T (p.Pro3907=) c.7518C>T (p.Pro2506=) n.92+228G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.130433394T>A | CA375219304 | HMCN2 | c.14884T>A (p.Ser4962Thr) c.14941T>A (p.Ser4981Thr) n.3287T>A c.14881T>A (p.Ser4961Thr) c.14818T>A (p.Ser4940Thr) c.14809T>A (p.Ser4937Thr) c.14764T>A (p.Ser4922Thr) c.11722T>A (p.Ser3908Thr) c.7519T>A (p.Ser2507Thr) n.92+227A>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.130433394T>C | CA375219308 | HMCN2 | c.14884T>C (p.Ser4962Pro) c.14941T>C (p.Ser4981Pro) n.3287T>C c.14881T>C (p.Ser4961Pro) c.14818T>C (p.Ser4940Pro) c.14809T>C (p.Ser4937Pro) c.14764T>C (p.Ser4922Pro) c.11722T>C (p.Ser3908Pro) c.7519T>C (p.Ser2507Pro) n.92+227A>G | |
| 9 | g.130433394T>G | CA375219306 | HMCN2 | c.14884T>G (p.Ser4962Ala) c.14941T>G (p.Ser4981Ala) n.3287T>G c.14881T>G (p.Ser4961Ala) c.14818T>G (p.Ser4940Ala) c.14809T>G (p.Ser4937Ala) c.14764T>G (p.Ser4922Ala) c.11722T>G (p.Ser3908Ala) c.7519T>G (p.Ser2507Ala) n.92+227A>C | |
| 9 | g.130433394T= | CA1881266237 | HMCN2 | c.14884T= (p.Ser4962=) c.14941T= (p.Ser4981=) n.3287T= c.14881T= (p.Ser4961=) c.14818T= (p.Ser4940=) c.14809T= (p.Ser4937=) c.14764T= (p.Ser4922=) c.11722T= (p.Ser3908=) c.7519T= (p.Ser2507=) n.92+227A= | |
| 9 | g.130433395C>A | CA375219311 | HMCN2 | c.14885C>A (p.Ser4962Tyr) c.14942C>A (p.Ser4981Tyr) n.3288C>A c.14882C>A (p.Ser4961Tyr) c.14819C>A (p.Ser4940Tyr) c.14810C>A (p.Ser4937Tyr) c.14765C>A (p.Ser4922Tyr) c.11723C>A (p.Ser3908Tyr) c.7520C>A (p.Ser2507Tyr) n.92+226G>T | |
| 9 | g.130433395C= | CA1881266242 | HMCN2 | c.14885C= (p.Ser4962=) c.14942C= (p.Ser4981=) n.3288C= c.14882C= (p.Ser4961=) c.14819C= (p.Ser4940=) c.14810C= (p.Ser4937=) c.14765C= (p.Ser4922=) c.11723C= (p.Ser3908=) c.7520C= (p.Ser2507=) n.92+226G= | |
| 9 | g.130433395C>G | CA375219313 | HMCN2 | c.14885C>G (p.Ser4962Cys) c.14942C>G (p.Ser4981Cys) n.3288C>G c.14882C>G (p.Ser4961Cys) c.14819C>G (p.Ser4940Cys) c.14810C>G (p.Ser4937Cys) c.14765C>G (p.Ser4922Cys) c.11723C>G (p.Ser3908Cys) c.7520C>G (p.Ser2507Cys) n.92+226G>C | |
| 9 | g.130433395C>T | CA375219314 | HMCN2 | c.14885C>T (p.Ser4962Phe) c.14942C>T (p.Ser4981Phe) n.3288C>T c.14882C>T (p.Ser4961Phe) c.14819C>T (p.Ser4940Phe) c.14810C>T (p.Ser4937Phe) c.14765C>T (p.Ser4922Phe) c.11723C>T (p.Ser3908Phe) c.7520C>T (p.Ser2507Phe) n.92+226G>A | dbSNP gnomAD v4 |
| 9 | g.130433396T>A | CA467387209 | HMCN2 | c.14886T>A (p.Ser4962=) c.14943T>A (p.Ser4981=) n.3289T>A c.14883T>A (p.Ser4961=) c.14820T>A (p.Ser4940=) c.14811T>A (p.Ser4937=) c.14766T>A (p.Ser4922=) c.11724T>A (p.Ser3908=) c.7521T>A (p.Ser2507=) n.92+225A>T | |
| 9 | g.130433396T>C | CA5283047 | HMCN2 | c.14886T>C (p.Ser4962=) c.14943T>C (p.Ser4981=) n.3289T>C c.14883T>C (p.Ser4961=) c.14820T>C (p.Ser4940=) c.14811T>C (p.Ser4937=) c.14766T>C (p.Ser4922=) c.11724T>C (p.Ser3908=) c.7521T>C (p.Ser2507=) n.92+225A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.130433396T>G | CA467387210 | HMCN2 | c.14886T>G (p.Ser4962=) c.14943T>G (p.Ser4981=) n.3289T>G c.14883T>G (p.Ser4961=) c.14820T>G (p.Ser4940=) c.14811T>G (p.Ser4937=) c.14766T>G (p.Ser4922=) c.11724T>G (p.Ser3908=) c.7521T>G (p.Ser2507=) n.92+225A>C | |
| 9 | g.130433396T= | CA1881266245 | HMCN2 | c.14886T= (p.Ser4962=) c.14943T= (p.Ser4981=) n.3289T= c.14883T= (p.Ser4961=) c.14820T= (p.Ser4940=) c.14811T= (p.Ser4937=) c.14766T= (p.Ser4922=) c.11724T= (p.Ser3908=) c.7521T= (p.Ser2507=) n.92+225A= | |
| 9 | g.130433397A>C | CA375219317 | HMCN2 | c.14887A>C (p.Thr4963Pro) c.14944A>C (p.Thr4982Pro) n.3290A>C c.14884A>C (p.Thr4962Pro) c.14821A>C (p.Thr4941Pro) c.14812A>C (p.Thr4938Pro) c.14767A>C (p.Thr4923Pro) c.11725A>C (p.Thr3909Pro) c.7522A>C (p.Thr2508Pro) n.92+224T>G | |
| 9 | g.130433397A>G | CA375219319 | HMCN2 | c.14887A>G (p.Thr4963Ala) c.14944A>G (p.Thr4982Ala) n.3290A>G c.14884A>G (p.Thr4962Ala) c.14821A>G (p.Thr4941Ala) c.14812A>G (p.Thr4938Ala) c.14767A>G (p.Thr4923Ala) c.11725A>G (p.Thr3909Ala) c.7522A>G (p.Thr2508Ala) n.92+224T>C | gnomAD v4 |
| 9 | g.130433397A>T | CA375219321 | HMCN2 | c.14887A>T (p.Thr4963Ser) c.14944A>T (p.Thr4982Ser) n.3290A>T c.14884A>T (p.Thr4962Ser) c.14821A>T (p.Thr4941Ser) c.14812A>T (p.Thr4938Ser) c.14767A>T (p.Thr4923Ser) c.11725A>T (p.Thr3909Ser) c.7522A>T (p.Thr2508Ser) n.92+224T>A | |
| 9 | g.130433398C>A | CA375219327 | HMCN2 | c.14888C>A (p.Thr4963Lys) c.14945C>A (p.Thr4982Lys) n.3291C>A c.14885C>A (p.Thr4962Lys) c.14822C>A (p.Thr4941Lys) c.14813C>A (p.Thr4938Lys) c.14768C>A (p.Thr4923Lys) c.11726C>A (p.Thr3909Lys) c.7523C>A (p.Thr2508Lys) n.92+223G>T | gnomAD v4 |
| 9 | g.130433398C= | CA1881266247 | HMCN2 | c.14888C= (p.Thr4963=) c.14945C= (p.Thr4982=) n.3291C= c.14885C= (p.Thr4962=) c.14822C= (p.Thr4941=) c.14813C= (p.Thr4938=) c.14768C= (p.Thr4923=) c.11726C= (p.Thr3909=) c.7523C= (p.Thr2508=) n.92+223G= | |
| 9 | g.130433398C>G | CA375219329 | HMCN2 | c.14888C>G (p.Thr4963Arg) c.14945C>G (p.Thr4982Arg) n.3291C>G c.14885C>G (p.Thr4962Arg) c.14822C>G (p.Thr4941Arg) c.14813C>G (p.Thr4938Arg) c.14768C>G (p.Thr4923Arg) c.11726C>G (p.Thr3909Arg) c.7523C>G (p.Thr2508Arg) n.92+223G>C | |
| 9 | g.130433398C>T | CA375219331 | HMCN2 | c.14888C>T (p.Thr4963Met) c.14945C>T (p.Thr4982Met) n.3291C>T c.14885C>T (p.Thr4962Met) c.14822C>T (p.Thr4941Met) c.14813C>T (p.Thr4938Met) c.14768C>T (p.Thr4923Met) c.11726C>T (p.Thr3909Met) c.7523C>T (p.Thr2508Met) n.92+223G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.130433399G>A | CA467387211 | HMCN2 | c.14889G>A (p.Thr4963=) c.14946G>A (p.Thr4982=) n.3292G>A c.14886G>A (p.Thr4962=) c.14823G>A (p.Thr4941=) c.14814G>A (p.Thr4938=) c.14769G>A (p.Thr4923=) c.11727G>A (p.Thr3909=) c.7524G>A (p.Thr2508=) n.92+222C>T | dbSNP gnomAD v4 |
| 9 | g.130433399G>C | CA200583116 | HMCN2 | c.14889G>C (p.Thr4963=) c.14946G>C (p.Thr4982=) n.3292G>C c.14886G>C (p.Thr4962=) c.14823G>C (p.Thr4941=) c.14814G>C (p.Thr4938=) c.14769G>C (p.Thr4923=) c.11727G>C (p.Thr3909=) c.7524G>C (p.Thr2508=) n.92+222C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130433399G= | CA1881266249 | HMCN2 | c.14889G= (p.Thr4963=) c.14946G= (p.Thr4982=) n.3292G= c.14886G= (p.Thr4962=) c.14823G= (p.Thr4941=) c.14814G= (p.Thr4938=) c.14769G= (p.Thr4923=) c.11727G= (p.Thr3909=) c.7524G= (p.Thr2508=) n.92+222C= | |
| 9 | g.130433399G>T | CA5283048 | HMCN2 | c.14889G>T (p.Thr4963=) c.14946G>T (p.Thr4982=) n.3292G>T c.14886G>T (p.Thr4962=) c.14823G>T (p.Thr4941=) c.14814G>T (p.Thr4938=) c.14769G>T (p.Thr4923=) c.11727G>T (p.Thr3909=) c.7524G>T (p.Thr2508=) n.92+222C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130433400C>A | CA375219337 | HMCN2 | c.14890C>A (p.Leu4964Met) c.14947C>A (p.Leu4983Met) n.3293C>A c.14887C>A (p.Leu4963Met) c.14824C>A (p.Leu4942Met) c.14815C>A (p.Leu4939Met) c.14770C>A (p.Leu4924Met) c.11728C>A (p.Leu3910Met) c.7525C>A (p.Leu2509Met) n.92+221G>T | gnomAD v4 |
| 9 | g.130433400C= | CA1881266253 | HMCN2 | c.14890C= (p.Leu4964=) c.14947C= (p.Leu4983=) n.3293C= c.14887C= (p.Leu4963=) c.14824C= (p.Leu4942=) c.14815C= (p.Leu4939=) c.14770C= (p.Leu4924=) c.11728C= (p.Leu3910=) c.7525C= (p.Leu2509=) n.92+221G= | |
| 9 | g.130433400C>G | CA375219335 | HMCN2 | c.14890C>G (p.Leu4964Val) c.14947C>G (p.Leu4983Val) n.3293C>G c.14887C>G (p.Leu4963Val) c.14824C>G (p.Leu4942Val) c.14815C>G (p.Leu4939Val) c.14770C>G (p.Leu4924Val) c.11728C>G (p.Leu3910Val) c.7525C>G (p.Leu2509Val) n.92+221G>C | |
| 9 | g.130433400C>T | CA467387212 | HMCN2 | c.14890C>T (p.Leu4964=) c.14947C>T (p.Leu4983=) n.3293C>T c.14887C>T (p.Leu4963=) c.14824C>T (p.Leu4942=) c.14815C>T (p.Leu4939=) c.14770C>T (p.Leu4924=) c.11728C>T (p.Leu3910=) c.7525C>T (p.Leu2509=) n.92+221G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.130433401T>A | CA375219340 | HMCN2 | c.14891T>A (p.Leu4964Gln) c.14948T>A (p.Leu4983Gln) n.3294T>A c.14888T>A (p.Leu4963Gln) c.14825T>A (p.Leu4942Gln) c.14816T>A (p.Leu4939Gln) c.14771T>A (p.Leu4924Gln) c.11729T>A (p.Leu3910Gln) c.7526T>A (p.Leu2509Gln) n.92+220A>T | |
| 9 | g.130433401T>C | CA375219341 | HMCN2 | c.14891T>C (p.Leu4964Pro) c.14948T>C (p.Leu4983Pro) n.3294T>C c.14888T>C (p.Leu4963Pro) c.14825T>C (p.Leu4942Pro) c.14816T>C (p.Leu4939Pro) c.14771T>C (p.Leu4924Pro) c.11729T>C (p.Leu3910Pro) c.7526T>C (p.Leu2509Pro) n.92+220A>G | gnomAD v4 |
| 9 | g.130433401T>G | CA375219343 | HMCN2 | c.14891T>G (p.Leu4964Arg) c.14948T>G (p.Leu4983Arg) n.3294T>G c.14888T>G (p.Leu4963Arg) c.14825T>G (p.Leu4942Arg) c.14816T>G (p.Leu4939Arg) c.14771T>G (p.Leu4924Arg) c.11729T>G (p.Leu3910Arg) c.7526T>G (p.Leu2509Arg) n.92+220A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130433401T= | CA1881266255 | HMCN2 | c.14891T= (p.Leu4964=) c.14948T= (p.Leu4983=) n.3294T= c.14888T= (p.Leu4963=) c.14825T= (p.Leu4942=) c.14816T= (p.Leu4939=) c.14771T= (p.Leu4924=) c.11729T= (p.Leu3910=) c.7526T= (p.Leu2509=) n.92+220A= | |
| 9 | g.130433402G>A | CA467387213 | HMCN2 | c.14892G>A (p.Leu4964=) c.14949G>A (p.Leu4983=) n.3295G>A c.14889G>A (p.Leu4963=) c.14826G>A (p.Leu4942=) c.14817G>A (p.Leu4939=) c.14772G>A (p.Leu4924=) c.11730G>A (p.Leu3910=) c.7527G>A (p.Leu2509=) n.92+219C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.130433402G>C | CA467387214 | HMCN2 | c.14892G>C (p.Leu4964=) c.14949G>C (p.Leu4983=) n.3295G>C c.14889G>C (p.Leu4963=) c.14826G>C (p.Leu4942=) c.14817G>C (p.Leu4939=) c.14772G>C (p.Leu4924=) c.11730G>C (p.Leu3910=) c.7527G>C (p.Leu2509=) n.92+219C>G | |
| 9 | g.130433402G= | CA1881266257 | HMCN2 | c.14892G= (p.Leu4964=) c.14949G= (p.Leu4983=) n.3295G= c.14889G= (p.Leu4963=) c.14826G= (p.Leu4942=) c.14817G= (p.Leu4939=) c.14772G= (p.Leu4924=) c.11730G= (p.Leu3910=) c.7527G= (p.Leu2509=) n.92+219C= | |
| 9 | g.130433402G>T | CA467387215 | HMCN2 | c.14892G>T (p.Leu4964=) c.14949G>T (p.Leu4983=) n.3295G>T c.14889G>T (p.Leu4963=) c.14826G>T (p.Leu4942=) c.14817G>T (p.Leu4939=) c.14772G>T (p.Leu4924=) c.11730G>T (p.Leu3910=) c.7527G>T (p.Leu2509=) n.92+219C>A | |
| 9 | g.130433403C>A | CA375219345 | HMCN2 | c.14893C>A (p.Gln4965Lys) c.14950C>A (p.Gln4984Lys) n.3296C>A c.14890C>A (p.Gln4964Lys) c.14827C>A (p.Gln4943Lys) c.14818C>A (p.Gln4940Lys) c.14773C>A (p.Gln4925Lys) c.11731C>A (p.Gln3911Lys) c.7528C>A (p.Gln2510Lys) n.92+218G>T | gnomAD v4 |
| 9 | g.130433403C>G | CA375219347 | HMCN2 | c.14893C>G (p.Gln4965Glu) c.14950C>G (p.Gln4984Glu) n.3296C>G c.14890C>G (p.Gln4964Glu) c.14827C>G (p.Gln4943Glu) c.14818C>G (p.Gln4940Glu) c.14773C>G (p.Gln4925Glu) c.11731C>G (p.Gln3911Glu) c.7528C>G (p.Gln2510Glu) n.92+218G>C | |
| 9 | g.130433403C>T | CA375219349 | HMCN2 | c.14893C>T (p.Gln4965Ter) c.14950C>T (p.Gln4984Ter) n.3296C>T c.14890C>T (p.Gln4964Ter) c.14827C>T (p.Gln4943Ter) c.14818C>T (p.Gln4940Ter) c.14773C>T (p.Gln4925Ter) c.11731C>T (p.Gln3911Ter) c.7528C>T (p.Gln2510Ter) n.92+218G>A | gnomAD v4 |
| 9 | g.130433404A= | CA1881266262 | HMCN2 | c.14894A= (p.Gln4965=) c.14951A= (p.Gln4984=) n.3297A= c.14891A= (p.Gln4964=) c.14828A= (p.Gln4943=) c.14819A= (p.Gln4940=) c.14774A= (p.Gln4925=) c.11732A= (p.Gln3911=) c.7529A= (p.Gln2510=) n.92+217T= | |
| 9 | g.130433404A>C | CA375219351 | HMCN2 | c.14894A>C (p.Gln4965Pro) c.14951A>C (p.Gln4984Pro) n.3297A>C c.14891A>C (p.Gln4964Pro) c.14828A>C (p.Gln4943Pro) c.14819A>C (p.Gln4940Pro) c.14774A>C (p.Gln4925Pro) c.11732A>C (p.Gln3911Pro) c.7529A>C (p.Gln2510Pro) n.92+217T>G | dbSNP gnomAD v4 |
| 9 | g.130433404A>G | CA375219353 | HMCN2 | c.14894A>G (p.Gln4965Arg) c.14951A>G (p.Gln4984Arg) n.3297A>G c.14891A>G (p.Gln4964Arg) c.14828A>G (p.Gln4943Arg) c.14819A>G (p.Gln4940Arg) c.14774A>G (p.Gln4925Arg) c.11732A>G (p.Gln3911Arg) c.7529A>G (p.Gln2510Arg) n.92+217T>C | |
| 9 | g.130433404A>T | CA375219354 | HMCN2 | c.14894A>T (p.Gln4965Leu) c.14951A>T (p.Gln4984Leu) n.3297A>T c.14891A>T (p.Gln4964Leu) c.14828A>T (p.Gln4943Leu) c.14819A>T (p.Gln4940Leu) c.14774A>T (p.Gln4925Leu) c.11732A>T (p.Gln3911Leu) c.7529A>T (p.Gln2510Leu) n.92+217T>A | |
| 9 | g.130433405_130433407del | CA2692135582 | HMCN2 | c.14895_14897del (p.Gln4965_Tyr4966delinsHis) c.14952_14954del (p.Gln4984_Tyr4985delinsHis) n.3298_3300del c.14892_14894del (p.Gln4964_Tyr4965delinsHis) c.14829_14831del (p.Gln4943_Tyr4944delinsHis) c.14820_14822del (p.Gln4940_Tyr4941delinsHis) c.14775_14777del (p.Gln4925_Tyr4926delinsHis) c.11733_11735del (p.Gln3911_Tyr3912delinsHis) c.7530_7532del (p.Gln2510_Tyr2511delinsHis) n.92+215_92+217del | gnomAD v4 |
| 9 | g.130433405G>A | CA467387216 | HMCN2 | c.14895G>A (p.Gln4965=) c.14952G>A (p.Gln4984=) n.3298G>A c.14892G>A (p.Gln4964=) c.14829G>A (p.Gln4943=) c.14820G>A (p.Gln4940=) c.14775G>A (p.Gln4925=) c.11733G>A (p.Gln3911=) c.7530G>A (p.Gln2510=) n.92+216C>T | gnomAD v4 |