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 |
|---|---|---|---|---|---|
| 7 | g.151576439_151576441del | CA2580614289 | PRKAG2 | c.153_155del (p.Phe52del) c.876_878del (p.Phe293del) c.879_881del (p.Phe294del) c.156_158del (p.Phe53del) n.222_224del c.504_506del (p.Phe169del) n.373_375del c.96_98del (p.Phe33del) n.994_996del c.*119_*121del (n.*119_*121del) n.81_83del c.*198_*200del (n.*198_*200del) c.747_749del (p.Phe250del) c.647_649del (n.647_649del) c.744_746del (p.Phe249del) n.612_614del n.260_262del n.284_286del n.225_227del c.507_509del (p.Phe170del) c.*128_*130del (n.*128_*130del) c.867_869del (p.Phe290del) c.864_866del (p.Phe289del) c.132_134del (p.Phe45del) | ClinVar |
| 7 | g.151576438G>A | CA058620 | PRKAG2 | c.153C>T (p.Phe51=) c.876C>T (p.Phe292=) c.879C>T (p.Phe293=) c.156C>T (p.Phe52=) n.222C>T c.504C>T (p.Phe168=) n.373C>T c.96C>T (p.Phe32=) n.994C>T c.*119C>T (n.*119C>T) n.81C>T c.*198C>T (n.*198C>T) c.747C>T (p.Phe249=) c.647C>T (n.647C>T) c.744C>T (p.Phe248=) n.612C>T n.260C>T n.284C>T n.225C>T c.507C>T (p.Phe169=) c.*128C>T (n.*128C>T) c.867C>T (p.Phe289=) c.864C>T (p.Phe288=) c.132C>T (p.Phe44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.151576438G>C | CA370072502 | PRKAG2 | c.153C>G (p.Phe51Leu) c.876C>G (p.Phe292Leu) c.879C>G (p.Phe293Leu) c.156C>G (p.Phe52Leu) n.222C>G c.504C>G (p.Phe168Leu) n.373C>G c.96C>G (p.Phe32Leu) n.994C>G c.*119C>G (n.*119C>G) n.81C>G c.*198C>G (n.*198C>G) c.747C>G (p.Phe249Leu) c.647C>G (n.647C>G) c.744C>G (p.Phe248Leu) n.612C>G n.260C>G n.284C>G n.225C>G c.507C>G (p.Phe169Leu) c.*128C>G (n.*128C>G) c.867C>G (p.Phe289Leu) c.864C>G (p.Phe288Leu) c.132C>G (p.Phe44Leu) | |
| 7 | g.151576438G= | CA1752702138 | PRKAG2 | c.153C= (p.Phe51=) c.876C= (p.Phe292=) c.879C= (p.Phe293=) c.156C= (p.Phe52=) n.222C= c.504C= (p.Phe168=) n.373C= c.96C= (p.Phe32=) n.994C= c.*119C= (n.*119C=) n.81C= c.*198C= (n.*198C=) c.747C= (p.Phe249=) c.647C= (n.647C=) c.744C= (p.Phe248=) n.612C= n.260C= n.284C= n.225C= c.507C= (p.Phe169=) c.*128C= (n.*128C=) c.867C= (p.Phe289=) c.864C= (p.Phe288=) c.132C= (p.Phe44=) | |
| 7 | g.151576438G>T | CA014610 | PRKAG2 | c.153C>A (p.Phe51Leu) c.876C>A (p.Phe292Leu) c.879C>A (p.Phe293Leu) c.156C>A (p.Phe52Leu) n.222C>A c.504C>A (p.Phe168Leu) n.373C>A c.96C>A (p.Phe32Leu) n.994C>A c.*119C>A (n.*119C>A) n.81C>A c.*198C>A (n.*198C>A) c.747C>A (p.Phe249Leu) c.647C>A (n.647C>A) c.744C>A (p.Phe248Leu) n.612C>A n.260C>A n.284C>A n.225C>A c.507C>A (p.Phe169Leu) c.*128C>A (n.*128C>A) c.867C>A (p.Phe289Leu) c.864C>A (p.Phe288Leu) c.132C>A (p.Phe44Leu) | ClinVar dbSNP COSMIC COSMIC |
| 7 | g.151576439A>C | CA370072503 | PRKAG2 | c.152T>G (p.Phe51Cys) c.875T>G (p.Phe292Cys) c.878T>G (p.Phe293Cys) c.155T>G (p.Phe52Cys) n.221T>G c.503T>G (p.Phe168Cys) n.372T>G c.95T>G (p.Phe32Cys) n.993T>G c.*118T>G (n.*118T>G) n.80T>G c.*197T>G (n.*197T>G) c.746T>G (p.Phe249Cys) c.646T>G (n.646T>G) c.743T>G (p.Phe248Cys) n.611T>G n.259T>G n.283T>G n.224T>G c.506T>G (p.Phe169Cys) c.*127T>G (n.*127T>G) c.866T>G (p.Phe289Cys) c.863T>G (p.Phe288Cys) c.131T>G (p.Phe44Cys) | |
| 7 | g.151576439A>G | CA370072504 | PRKAG2 | c.152T>C (p.Phe51Ser) c.875T>C (p.Phe292Ser) c.878T>C (p.Phe293Ser) c.155T>C (p.Phe52Ser) n.221T>C c.503T>C (p.Phe168Ser) n.372T>C c.95T>C (p.Phe32Ser) n.993T>C c.*118T>C (n.*118T>C) n.80T>C c.*197T>C (n.*197T>C) c.746T>C (p.Phe249Ser) c.646T>C (n.646T>C) c.743T>C (p.Phe248Ser) n.611T>C n.259T>C n.283T>C n.224T>C c.506T>C (p.Phe169Ser) c.*127T>C (n.*127T>C) c.866T>C (p.Phe289Ser) c.863T>C (p.Phe288Ser) c.131T>C (p.Phe44Ser) | |
| 7 | g.151576439A>T | CA370072505 | PRKAG2 | c.152T>A (p.Phe51Tyr) c.875T>A (p.Phe292Tyr) c.878T>A (p.Phe293Tyr) c.155T>A (p.Phe52Tyr) n.221T>A c.503T>A (p.Phe168Tyr) n.372T>A c.95T>A (p.Phe32Tyr) n.993T>A c.*118T>A (n.*118T>A) n.80T>A c.*197T>A (n.*197T>A) c.746T>A (p.Phe249Tyr) c.646T>A (n.646T>A) c.743T>A (p.Phe248Tyr) n.611T>A n.259T>A n.283T>A n.224T>A c.506T>A (p.Phe169Tyr) c.*127T>A (n.*127T>A) c.866T>A (p.Phe289Tyr) c.863T>A (p.Phe288Tyr) c.131T>A (p.Phe44Tyr) | |
| 7 | g.151576439_151576440delinsAA | CA1752702147 | PRKAG2 | c.151_152delinsTT (p.Phe51=) c.874_875delinsTT (p.Phe292=) c.877_878delinsTT (p.Phe293=) c.154_155delinsTT (p.Phe52=) n.220_221delinsTT c.502_503delinsTT (p.Phe168=) n.371_372delinsTT c.94_95delinsTT (p.Phe32=) n.992_993delinsTT c.*117_*118delinsTT (n.*117_*118delinsTT) n.79_80delinsTT c.*196_*197delinsTT (n.*196_*197delinsTT) c.745_746delinsTT (p.Phe249=) c.645_646delinsTT (n.645_646delinsTT) c.742_743delinsTT (p.Phe248=) n.610_611delinsTT n.258_259delinsTT n.282_283delinsTT n.223_224delinsTT c.505_506delinsTT (p.Phe169=) c.*126_*127delinsTT (n.*126_*127delinsTT) c.865_866delinsTT (p.Phe289=) c.862_863delinsTT (p.Phe288=) c.130_131delinsTT (p.Phe44=) | |
| 7 | g.151576439_151576440delinsGC | CA658822617 | PRKAG2 | c.151_152delinsGC (p.Phe51Ala) c.874_875delinsGC (p.Phe292Ala) c.877_878delinsGC (p.Phe293Ala) c.154_155delinsGC (p.Phe52Ala) n.220_221delinsGC c.502_503delinsGC (p.Phe168Ala) n.371_372delinsGC c.94_95delinsGC (p.Phe32Ala) n.992_993delinsGC c.*117_*118delinsGC (n.*117_*118delinsGC) n.79_80delinsGC c.*196_*197delinsGC (n.*196_*197delinsGC) c.745_746delinsGC (p.Phe249Ala) c.645_646delinsGC (n.645_646delinsGC) c.742_743delinsGC (p.Phe248Ala) n.610_611delinsGC n.258_259delinsGC n.282_283delinsGC n.223_224delinsGC c.505_506delinsGC (p.Phe169Ala) c.*126_*127delinsGC (n.*126_*127delinsGC) c.865_866delinsGC (p.Phe289Ala) c.862_863delinsGC (p.Phe288Ala) c.130_131delinsGC (p.Phe44Ala) | ClinVar dbSNP |
| 7 | g.151576440A>C | CA370072506 | PRKAG2 | c.151T>G (p.Phe51Val) c.874T>G (p.Phe292Val) c.877T>G (p.Phe293Val) c.154T>G (p.Phe52Val) n.220T>G c.502T>G (p.Phe168Val) n.371T>G c.94T>G (p.Phe32Val) n.992T>G c.*117T>G (n.*117T>G) n.79T>G c.*196T>G (n.*196T>G) c.745T>G (p.Phe249Val) c.645T>G (n.645T>G) c.742T>G (p.Phe248Val) n.610T>G n.258T>G n.282T>G n.223T>G c.505T>G (p.Phe169Val) c.*126T>G (n.*126T>G) c.865T>G (p.Phe289Val) c.862T>G (p.Phe288Val) c.130T>G (p.Phe44Val) | |
| 7 | g.151576440A>G | CA370072507 | PRKAG2 | c.151T>C (p.Phe51Leu) c.874T>C (p.Phe292Leu) c.877T>C (p.Phe293Leu) c.154T>C (p.Phe52Leu) n.220T>C c.502T>C (p.Phe168Leu) n.371T>C c.94T>C (p.Phe32Leu) n.992T>C c.*117T>C (n.*117T>C) n.79T>C c.*196T>C (n.*196T>C) c.745T>C (p.Phe249Leu) c.645T>C (n.645T>C) c.742T>C (p.Phe248Leu) n.610T>C n.258T>C n.282T>C n.223T>C c.505T>C (p.Phe169Leu) c.*126T>C (n.*126T>C) c.865T>C (p.Phe289Leu) c.862T>C (p.Phe288Leu) c.130T>C (p.Phe44Leu) | |
| 7 | g.151576440A>T | CA370072508 | PRKAG2 | c.151T>A (p.Phe51Ile) c.874T>A (p.Phe292Ile) c.877T>A (p.Phe293Ile) c.154T>A (p.Phe52Ile) n.220T>A c.502T>A (p.Phe168Ile) n.371T>A c.94T>A (p.Phe32Ile) n.992T>A c.*117T>A (n.*117T>A) n.79T>A c.*196T>A (n.*196T>A) c.745T>A (p.Phe249Ile) c.645T>A (n.645T>A) c.742T>A (p.Phe248Ile) n.610T>A n.258T>A n.282T>A n.223T>A c.505T>A (p.Phe169Ile) c.*126T>A (n.*126T>A) c.865T>A (p.Phe289Ile) c.862T>A (p.Phe288Ile) c.130T>A (p.Phe44Ile) | |
| 7 | g.151576440_151576441delinsAG | CA1752702152 | PRKAG2 | c.150_151delinsCT (p.Ala50=) c.873_874delinsCT (p.Ala291=) c.876_877delinsCT (p.Ala292=) c.153_154delinsCT (p.Ala51=) n.219_220delinsCT c.501_502delinsCT (p.Ala167=) n.370_371delinsCT c.93_94delinsCT (p.Ala31=) n.991_992delinsCT c.*116_*117delinsCT (n.*116_*117delinsCT) n.78_79delinsCT c.*195_*196delinsCT (n.*195_*196delinsCT) c.744_745delinsCT (p.Ala248=) c.644_645delinsCT (n.644_645delinsCT) c.741_742delinsCT (p.Ala247=) n.609_610delinsCT n.257_258delinsCT n.281_282delinsCT n.222_223delinsCT c.504_505delinsCT (p.Ala168=) c.*125_*126delinsCT (n.*125_*126delinsCT) c.864_865delinsCT (p.Ala288=) c.861_862delinsCT (p.Ala287=) c.129_130delinsCT (p.Ala43=) | |
| 7 | g.151576441G>A | CA058609 | PRKAG2 | c.150C>T (p.Ala50=) c.873C>T (p.Ala291=) c.876C>T (p.Ala292=) c.153C>T (p.Ala51=) n.219C>T c.501C>T (p.Ala167=) n.370C>T c.93C>T (p.Ala31=) n.991C>T c.*116C>T (n.*116C>T) n.78C>T c.*195C>T (n.*195C>T) c.744C>T (p.Ala248=) c.644C>T (n.644C>T) c.741C>T (p.Ala247=) n.609C>T n.257C>T n.281C>T n.222C>T c.504C>T (p.Ala168=) c.*125C>T (n.*125C>T) c.864C>T (p.Ala288=) c.861C>T (p.Ala287=) c.129C>T (p.Ala43=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.151576441G>C | CA458670660 | PRKAG2 | c.150C>G (p.Ala50=) c.873C>G (p.Ala291=) c.876C>G (p.Ala292=) c.153C>G (p.Ala51=) n.219C>G c.501C>G (p.Ala167=) n.370C>G c.93C>G (p.Ala31=) n.991C>G c.*116C>G (n.*116C>G) n.78C>G c.*195C>G (n.*195C>G) c.744C>G (p.Ala248=) c.644C>G (n.644C>G) c.741C>G (p.Ala247=) n.609C>G n.257C>G n.281C>G n.222C>G c.504C>G (p.Ala168=) c.*125C>G (n.*125C>G) c.864C>G (p.Ala288=) c.861C>G (p.Ala287=) c.129C>G (p.Ala43=) | ClinVar dbSNP |
| 7 | g.151576441G= | CA1752702160 | PRKAG2 | c.150C= (p.Ala50=) c.873C= (p.Ala291=) c.876C= (p.Ala292=) c.153C= (p.Ala51=) n.219C= c.501C= (p.Ala167=) n.370C= c.93C= (p.Ala31=) n.991C= c.*116C= (n.*116C=) n.78C= c.*195C= (n.*195C=) c.744C= (p.Ala248=) c.644C= (n.644C=) c.741C= (p.Ala247=) n.609C= n.257C= n.281C= n.222C= c.504C= (p.Ala168=) c.*125C= (n.*125C=) c.864C= (p.Ala288=) c.861C= (p.Ala287=) c.129C= (p.Ala43=) | |
| 7 | g.151576441G>T | CA458670655 | PRKAG2 | c.150C>A (p.Ala50=) c.873C>A (p.Ala291=) c.876C>A (p.Ala292=) c.153C>A (p.Ala51=) n.219C>A c.501C>A (p.Ala167=) n.370C>A c.93C>A (p.Ala31=) n.991C>A c.*116C>A (n.*116C>A) n.78C>A c.*195C>A (n.*195C>A) c.744C>A (p.Ala248=) c.644C>A (n.644C>A) c.741C>A (p.Ala247=) n.609C>A n.257C>A n.281C>A n.222C>A c.504C>A (p.Ala168=) c.*125C>A (n.*125C>A) c.864C>A (p.Ala288=) c.861C>A (p.Ala287=) c.129C>A (p.Ala43=) | |
| 7 | g.151576442del | CA835271782 | PRKAG2 | c.150del (p.Phe51SerfsTer5) c.873del (p.Phe292SerfsTer5) c.876del (p.Phe293SerfsTer5) c.153del (p.Phe52SerfsTer5) n.219del c.501del (p.Phe168SerfsTer5) n.370del c.93del (p.Phe32SerfsTer5) n.991del c.*116del (n.*116del) n.78del c.*195del (n.*195del) c.744del (p.Phe249SerfsTer5) c.644del (n.644del) c.741del (p.Phe248SerfsTer5) n.609del n.257del n.281del n.222del c.504del (p.Phe169SerfsTer5) c.*125del (n.*125del) c.864del (p.Phe289SerfsTer5) c.861del (p.Phe288SerfsTer5) c.129del (p.Phe44SerfsTer5) | dbSNP |
| 7 | g.151576441_151576447del | CA2697549710 | PRKAG2 | c.144_150del (p.Lys48AsnfsTer6) c.867_873del (p.Lys289AsnfsTer6) c.870_876del (p.Lys290AsnfsTer6) c.147_153del (p.Lys49AsnfsTer6) n.213_219del c.495_501del (p.Lys165AsnfsTer6) n.364_370del c.87_93del (p.Lys29AsnfsTer6) n.985_991del c.*110_*116del (n.*110_*116del) n.72_78del c.*189_*195del (n.*189_*195del) c.738_744del (p.Lys246AsnfsTer6) c.638_644del (n.638_644del) c.735_741del (p.Lys245AsnfsTer6) n.603_609del n.251_257del n.275_281del n.216_222del c.498_504del (p.Lys166AsnfsTer6) c.*119_*125del (n.*119_*125del) c.858_864del (p.Lys286AsnfsTer6) c.855_861del (p.Lys285AsnfsTer6) c.123_129del (p.Lys41AsnfsTer6) | ClinVar |
| 7 | g.151576442G>A | CA370072509 | PRKAG2 | c.149C>T (p.Ala50Val) c.872C>T (p.Ala291Val) c.875C>T (p.Ala292Val) c.152C>T (p.Ala51Val) n.218C>T c.500C>T (p.Ala167Val) n.369C>T c.92C>T (p.Ala31Val) n.990C>T c.*115C>T (n.*115C>T) n.77C>T c.*194C>T (n.*194C>T) c.743C>T (p.Ala248Val) c.643C>T (n.643C>T) c.740C>T (p.Ala247Val) n.608C>T n.256C>T n.280C>T n.221C>T c.503C>T (p.Ala168Val) c.*124C>T (n.*124C>T) c.863C>T (p.Ala288Val) c.860C>T (p.Ala287Val) c.128C>T (p.Ala43Val) | gnomAD v4 |
| 7 | g.151576442G>C | CA370072510 | PRKAG2 | c.149C>G (p.Ala50Gly) c.872C>G (p.Ala291Gly) c.875C>G (p.Ala292Gly) c.152C>G (p.Ala51Gly) n.218C>G c.500C>G (p.Ala167Gly) n.369C>G c.92C>G (p.Ala31Gly) n.990C>G c.*115C>G (n.*115C>G) n.77C>G c.*194C>G (n.*194C>G) c.743C>G (p.Ala248Gly) c.643C>G (n.643C>G) c.740C>G (p.Ala247Gly) n.608C>G n.256C>G n.280C>G n.221C>G c.503C>G (p.Ala168Gly) c.*124C>G (n.*124C>G) c.863C>G (p.Ala288Gly) c.860C>G (p.Ala287Gly) c.128C>G (p.Ala43Gly) | |
| 7 | g.151576442G= | CA1752702168 | PRKAG2 | c.149C= (p.Ala50=) c.872C= (p.Ala291=) c.875C= (p.Ala292=) c.152C= (p.Ala51=) n.218C= c.500C= (p.Ala167=) n.369C= c.92C= (p.Ala31=) n.990C= c.*115C= (n.*115C=) n.77C= c.*194C= (n.*194C=) c.743C= (p.Ala248=) c.643C= (n.643C=) c.740C= (p.Ala247=) n.608C= n.256C= n.280C= n.221C= c.503C= (p.Ala168=) c.*124C= (n.*124C=) c.863C= (p.Ala288=) c.860C= (p.Ala287=) c.128C= (p.Ala43=) | |
| 7 | g.151576442G>T | CA169167827 | PRKAG2 | c.149C>A (p.Ala50Asp) c.872C>A (p.Ala291Asp) c.875C>A (p.Ala292Asp) c.152C>A (p.Ala51Asp) n.218C>A c.500C>A (p.Ala167Asp) n.369C>A c.92C>A (p.Ala31Asp) n.990C>A c.*115C>A (n.*115C>A) n.77C>A c.*194C>A (n.*194C>A) c.743C>A (p.Ala248Asp) c.643C>A (n.643C>A) c.740C>A (p.Ala247Asp) n.608C>A n.256C>A n.280C>A n.221C>A c.503C>A (p.Ala168Asp) c.*124C>A (n.*124C>A) c.863C>A (p.Ala288Asp) c.860C>A (p.Ala287Asp) c.128C>A (p.Ala43Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.151576443C>A | CA370072511 | PRKAG2 | c.148G>T (p.Ala50Ser) c.871G>T (p.Ala291Ser) c.874G>T (p.Ala292Ser) c.151G>T (p.Ala51Ser) n.217G>T c.499G>T (p.Ala167Ser) n.368G>T c.91G>T (p.Ala31Ser) n.989G>T c.*114G>T (n.*114G>T) n.76G>T c.*193G>T (n.*193G>T) c.742G>T (p.Ala248Ser) c.642G>T (n.642G>T) c.739G>T (p.Ala247Ser) n.607G>T n.255G>T n.279G>T n.220G>T c.502G>T (p.Ala168Ser) c.*123G>T (n.*123G>T) c.862G>T (p.Ala288Ser) c.859G>T (p.Ala287Ser) c.127G>T (p.Ala43Ser) | |
| 7 | g.151576443C= | CA1752702173 | PRKAG2 | c.148G= (p.Ala50=) c.871G= (p.Ala291=) c.874G= (p.Ala292=) c.151G= (p.Ala51=) n.217G= c.499G= (p.Ala167=) n.368G= c.91G= (p.Ala31=) n.989G= c.*114G= (n.*114G=) n.76G= c.*193G= (n.*193G=) c.742G= (p.Ala248=) c.642G= (n.642G=) c.739G= (p.Ala247=) n.607G= n.255G= n.279G= n.220G= c.502G= (p.Ala168=) c.*123G= (n.*123G=) c.862G= (p.Ala288=) c.859G= (p.Ala287=) c.127G= (p.Ala43=) | |
| 7 | g.151576443C>G | CA370072512 | PRKAG2 | c.148G>C (p.Ala50Pro) c.871G>C (p.Ala291Pro) c.874G>C (p.Ala292Pro) c.151G>C (p.Ala51Pro) n.217G>C c.499G>C (p.Ala167Pro) n.368G>C c.91G>C (p.Ala31Pro) n.989G>C c.*114G>C (n.*114G>C) n.76G>C c.*193G>C (n.*193G>C) c.742G>C (p.Ala248Pro) c.642G>C (n.642G>C) c.739G>C (p.Ala247Pro) n.607G>C n.255G>C n.279G>C n.220G>C c.502G>C (p.Ala168Pro) c.*123G>C (n.*123G>C) c.862G>C (p.Ala288Pro) c.859G>C (p.Ala287Pro) c.127G>C (p.Ala43Pro) | |
| 7 | g.151576443C>T | CA370072513 | PRKAG2 | c.148G>A (p.Ala50Thr) c.871G>A (p.Ala291Thr) c.874G>A (p.Ala292Thr) c.151G>A (p.Ala51Thr) n.217G>A c.499G>A (p.Ala167Thr) n.368G>A c.91G>A (p.Ala31Thr) n.989G>A c.*114G>A (n.*114G>A) n.76G>A c.*193G>A (n.*193G>A) c.742G>A (p.Ala248Thr) c.642G>A (n.642G>A) c.739G>A (p.Ala247Thr) n.607G>A n.255G>A n.279G>A n.220G>A c.502G>A (p.Ala168Thr) c.*123G>A (n.*123G>A) c.862G>A (p.Ala288Thr) c.859G>A (p.Ala287Thr) c.127G>A (p.Ala43Thr) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.151576444C>A | CA370072514 | PRKAG2 | c.147G>T (p.Lys49Asn) c.870G>T (p.Lys290Asn) c.873G>T (p.Lys291Asn) c.150G>T (p.Lys50Asn) n.216G>T c.498G>T (p.Lys166Asn) n.367G>T c.90G>T (p.Lys30Asn) n.988G>T c.*113G>T (n.*113G>T) n.75G>T c.*192G>T (n.*192G>T) c.741G>T (p.Lys247Asn) c.641G>T (n.641G>T) c.738G>T (p.Lys246Asn) n.606G>T n.254G>T n.278G>T n.219G>T c.501G>T (p.Lys167Asn) c.*122G>T (n.*122G>T) c.861G>T (p.Lys287Asn) c.858G>T (p.Lys286Asn) c.126G>T (p.Lys42Asn) | dbSNP |
| 7 | g.151576444C= | CA1752702178 | PRKAG2 | c.147G= (p.Lys49=) c.870G= (p.Lys290=) c.873G= (p.Lys291=) c.150G= (p.Lys50=) n.216G= c.498G= (p.Lys166=) n.367G= c.90G= (p.Lys30=) n.988G= c.*113G= (n.*113G=) n.75G= c.*192G= (n.*192G=) c.741G= (p.Lys247=) c.641G= (n.641G=) c.738G= (p.Lys246=) n.606G= n.254G= n.278G= n.219G= c.501G= (p.Lys167=) c.*122G= (n.*122G=) c.861G= (p.Lys287=) c.858G= (p.Lys286=) c.126G= (p.Lys42=) | |
| 7 | g.151576444C>G | CA370072515 | PRKAG2 | c.147G>C (p.Lys49Asn) c.870G>C (p.Lys290Asn) c.873G>C (p.Lys291Asn) c.150G>C (p.Lys50Asn) n.216G>C c.498G>C (p.Lys166Asn) n.367G>C c.90G>C (p.Lys30Asn) n.988G>C c.*113G>C (n.*113G>C) n.75G>C c.*192G>C (n.*192G>C) c.741G>C (p.Lys247Asn) c.641G>C (n.641G>C) c.738G>C (p.Lys246Asn) n.606G>C n.254G>C n.278G>C n.219G>C c.501G>C (p.Lys167Asn) c.*122G>C (n.*122G>C) c.861G>C (p.Lys287Asn) c.858G>C (p.Lys286Asn) c.126G>C (p.Lys42Asn) | |
| 7 | g.151576444C>T | CA458670666 | PRKAG2 | c.147G>A (p.Lys49=) c.870G>A (p.Lys290=) c.873G>A (p.Lys291=) c.150G>A (p.Lys50=) n.216G>A c.498G>A (p.Lys166=) n.367G>A c.90G>A (p.Lys30=) n.988G>A c.*113G>A (n.*113G>A) n.75G>A c.*192G>A (n.*192G>A) c.741G>A (p.Lys247=) c.641G>A (n.641G>A) c.738G>A (p.Lys246=) n.606G>A n.254G>A n.278G>A n.219G>A c.501G>A (p.Lys167=) c.*122G>A (n.*122G>A) c.861G>A (p.Lys287=) c.858G>A (p.Lys286=) c.126G>A (p.Lys42=) | |
| 7 | g.151576445T>A | CA370072516 | PRKAG2 | c.146A>T (p.Lys49Met) c.869A>T (p.Lys290Met) c.872A>T (p.Lys291Met) c.149A>T (p.Lys50Met) n.215A>T c.497A>T (p.Lys166Met) n.366A>T c.89A>T (p.Lys30Met) n.987A>T c.*112A>T (n.*112A>T) n.74A>T c.*191A>T (n.*191A>T) c.740A>T (p.Lys247Met) c.640A>T (n.640A>T) c.737A>T (p.Lys246Met) n.605A>T n.253A>T n.277A>T n.218A>T c.500A>T (p.Lys167Met) c.*121A>T (n.*121A>T) c.860A>T (p.Lys287Met) c.857A>T (p.Lys286Met) c.125A>T (p.Lys42Met) | |
| 7 | g.151576445T>C | CA370072517 | PRKAG2 | c.146A>G (p.Lys49Arg) c.869A>G (p.Lys290Arg) c.872A>G (p.Lys291Arg) c.149A>G (p.Lys50Arg) n.215A>G c.497A>G (p.Lys166Arg) n.366A>G c.89A>G (p.Lys30Arg) n.987A>G c.*112A>G (n.*112A>G) n.74A>G c.*191A>G (n.*191A>G) c.740A>G (p.Lys247Arg) c.640A>G (n.640A>G) c.737A>G (p.Lys246Arg) n.605A>G n.253A>G n.277A>G n.218A>G c.500A>G (p.Lys167Arg) c.*121A>G (n.*121A>G) c.860A>G (p.Lys287Arg) c.857A>G (p.Lys286Arg) c.125A>G (p.Lys42Arg) | gnomAD v4 |
| 7 | g.151576445T>G | CA370072518 | PRKAG2 | c.146A>C (p.Lys49Thr) c.869A>C (p.Lys290Thr) c.872A>C (p.Lys291Thr) c.149A>C (p.Lys50Thr) n.215A>C c.497A>C (p.Lys166Thr) n.366A>C c.89A>C (p.Lys30Thr) n.987A>C c.*112A>C (n.*112A>C) n.74A>C c.*191A>C (n.*191A>C) c.740A>C (p.Lys247Thr) c.640A>C (n.640A>C) c.737A>C (p.Lys246Thr) n.605A>C n.253A>C n.277A>C n.218A>C c.500A>C (p.Lys167Thr) c.*121A>C (n.*121A>C) c.860A>C (p.Lys287Thr) c.857A>C (p.Lys286Thr) c.125A>C (p.Lys42Thr) | |
| 7 | g.151576449del | CA458670669 | PRKAG2 | c.146del (p.Lys49ArgfsTer7) c.869del (p.Lys290ArgfsTer7) c.872del (p.Lys291ArgfsTer7) c.149del (p.Lys50ArgfsTer7) n.215del c.497del (p.Lys166ArgfsTer7) n.366del c.89del (p.Lys30ArgfsTer7) n.987del c.*112del (n.*112del) n.74del c.*191del (n.*191del) c.740del (p.Lys247ArgfsTer7) c.640del (n.640del) c.737del (p.Lys246ArgfsTer7) n.605del n.253del n.277del n.218del c.500del (p.Lys167ArgfsTer7) c.*121del (n.*121del) c.860del (p.Lys287ArgfsTer7) c.857del (p.Lys286ArgfsTer7) c.125del (p.Lys42ArgfsTer7) | gnomAD v4 COSMIC COSMIC |
| 7 | g.151576446T>A | CA370072519 | PRKAG2 | c.145A>T (p.Lys49Ter) c.868A>T (p.Lys290Ter) c.871A>T (p.Lys291Ter) c.148A>T (p.Lys50Ter) n.214A>T c.496A>T (p.Lys166Ter) n.365A>T c.88A>T (p.Lys30Ter) n.986A>T c.*111A>T (n.*111A>T) n.73A>T c.*190A>T (n.*190A>T) c.739A>T (p.Lys247Ter) c.639A>T (n.639A>T) c.736A>T (p.Lys246Ter) n.604A>T n.252A>T n.276A>T n.217A>T c.499A>T (p.Lys167Ter) c.*120A>T (n.*120A>T) c.859A>T (p.Lys287Ter) c.856A>T (p.Lys286Ter) c.124A>T (p.Lys42Ter) | |
| 7 | g.151576446T>C | CA370072520 | PRKAG2 | c.145A>G (p.Lys49Glu) c.868A>G (p.Lys290Glu) c.871A>G (p.Lys291Glu) c.148A>G (p.Lys50Glu) n.214A>G c.496A>G (p.Lys166Glu) n.365A>G c.88A>G (p.Lys30Glu) n.986A>G c.*111A>G (n.*111A>G) n.73A>G c.*190A>G (n.*190A>G) c.739A>G (p.Lys247Glu) c.639A>G (n.639A>G) c.736A>G (p.Lys246Glu) n.604A>G n.252A>G n.276A>G n.217A>G c.499A>G (p.Lys167Glu) c.*120A>G (n.*120A>G) c.859A>G (p.Lys287Glu) c.856A>G (p.Lys286Glu) c.124A>G (p.Lys42Glu) | |
| 7 | g.151576446T>G | CA370072521 | PRKAG2 | c.145A>C (p.Lys49Gln) c.868A>C (p.Lys290Gln) c.871A>C (p.Lys291Gln) c.148A>C (p.Lys50Gln) n.214A>C c.496A>C (p.Lys166Gln) n.365A>C c.88A>C (p.Lys30Gln) n.986A>C c.*111A>C (n.*111A>C) n.73A>C c.*190A>C (n.*190A>C) c.739A>C (p.Lys247Gln) c.639A>C (n.639A>C) c.736A>C (p.Lys246Gln) n.604A>C n.252A>C n.276A>C n.217A>C c.499A>C (p.Lys167Gln) c.*120A>C (n.*120A>C) c.859A>C (p.Lys287Gln) c.856A>C (p.Lys286Gln) c.124A>C (p.Lys42Gln) | |
| 7 | g.151576446_151576457del | CA645547454 | PRKAG2 | c.139-5_145del c.862-5_868del c.865-5_871del c.142-5_148del n.208-5_214del c.490-5_496del n.359-5_365del c.82-5_88del n.980-5_986del c.*105-5_*111del n.67-5_73del c.*184-5_*190del c.733-5_739del c.633-5_639del c.730-5_736del n.598-5_604del n.246-5_252del n.270-5_276del n.211-5_217del c.493-5_499del c.*114-5_*120del c.853-5_859del c.850-5_856del c.118-5_124del | COSMIC COSMIC |
| 7 | g.151576447T>A | CA370072523 | PRKAG2 | c.144A>T (p.Lys48Asn) c.867A>T (p.Lys289Asn) c.870A>T (p.Lys290Asn) c.147A>T (p.Lys49Asn) n.213A>T c.495A>T (p.Lys165Asn) n.364A>T c.87A>T (p.Lys29Asn) n.985A>T c.*110A>T (n.*110A>T) n.72A>T c.*189A>T (n.*189A>T) c.738A>T (p.Lys246Asn) c.638A>T (n.638A>T) c.735A>T (p.Lys245Asn) n.603A>T n.251A>T n.275A>T n.216A>T c.498A>T (p.Lys166Asn) c.*119A>T (n.*119A>T) c.858A>T (p.Lys286Asn) c.855A>T (p.Lys285Asn) c.123A>T (p.Lys41Asn) | |
| 7 | g.151576447T>C | CA458670673 | PRKAG2 | c.144A>G (p.Lys48=) c.867A>G (p.Lys289=) c.870A>G (p.Lys290=) c.147A>G (p.Lys49=) n.213A>G c.495A>G (p.Lys165=) n.364A>G c.87A>G (p.Lys29=) n.985A>G c.*110A>G (n.*110A>G) n.72A>G c.*189A>G (n.*189A>G) c.738A>G (p.Lys246=) c.638A>G (n.638A>G) c.735A>G (p.Lys245=) n.603A>G n.251A>G n.275A>G n.216A>G c.498A>G (p.Lys166=) c.*119A>G (n.*119A>G) c.858A>G (p.Lys286=) c.855A>G (p.Lys285=) c.123A>G (p.Lys41=) | |
| 7 | g.151576447T>G | CA370072522 | PRKAG2 | c.144A>C (p.Lys48Asn) c.867A>C (p.Lys289Asn) c.870A>C (p.Lys290Asn) c.147A>C (p.Lys49Asn) n.213A>C c.495A>C (p.Lys165Asn) n.364A>C c.87A>C (p.Lys29Asn) n.985A>C c.*110A>C (n.*110A>C) n.72A>C c.*189A>C (n.*189A>C) c.738A>C (p.Lys246Asn) c.638A>C (n.638A>C) c.735A>C (p.Lys245Asn) n.603A>C n.251A>C n.275A>C n.216A>C c.498A>C (p.Lys166Asn) c.*119A>C (n.*119A>C) c.858A>C (p.Lys286Asn) c.855A>C (p.Lys285Asn) c.123A>C (p.Lys41Asn) | |
| 7 | g.151576448T>A | CA370072524 | PRKAG2 | c.143A>T (p.Lys48Ile) c.866A>T (p.Lys289Ile) c.869A>T (p.Lys290Ile) c.146A>T (p.Lys49Ile) n.212A>T c.494A>T (p.Lys165Ile) n.363A>T c.86A>T (p.Lys29Ile) n.984A>T c.*109A>T (n.*109A>T) n.71A>T c.*188A>T (n.*188A>T) c.737A>T (p.Lys246Ile) c.637A>T (n.637A>T) c.734A>T (p.Lys245Ile) n.602A>T n.250A>T n.274A>T n.215A>T c.497A>T (p.Lys166Ile) c.*118A>T (n.*118A>T) c.857A>T (p.Lys286Ile) c.854A>T (p.Lys285Ile) c.122A>T (p.Lys41Ile) | ClinVar dbSNP |
| 7 | g.151576448T>C | CA370072526 | PRKAG2 | c.143A>G (p.Lys48Arg) c.866A>G (p.Lys289Arg) c.869A>G (p.Lys290Arg) c.146A>G (p.Lys49Arg) n.212A>G c.494A>G (p.Lys165Arg) n.363A>G c.86A>G (p.Lys29Arg) n.984A>G c.*109A>G (n.*109A>G) n.71A>G c.*188A>G (n.*188A>G) c.737A>G (p.Lys246Arg) c.637A>G (n.637A>G) c.734A>G (p.Lys245Arg) n.602A>G n.250A>G n.274A>G n.215A>G c.497A>G (p.Lys166Arg) c.*118A>G (n.*118A>G) c.857A>G (p.Lys286Arg) c.854A>G (p.Lys285Arg) c.122A>G (p.Lys41Arg) | |
| 7 | g.151576448T>G | CA370072525 | PRKAG2 | c.143A>C (p.Lys48Thr) c.866A>C (p.Lys289Thr) c.869A>C (p.Lys290Thr) c.146A>C (p.Lys49Thr) n.212A>C c.494A>C (p.Lys165Thr) n.363A>C c.86A>C (p.Lys29Thr) n.984A>C c.*109A>C (n.*109A>C) n.71A>C c.*188A>C (n.*188A>C) c.737A>C (p.Lys246Thr) c.637A>C (n.637A>C) c.734A>C (p.Lys245Thr) n.602A>C n.250A>C n.274A>C n.215A>C c.497A>C (p.Lys166Thr) c.*118A>C (n.*118A>C) c.857A>C (p.Lys286Thr) c.854A>C (p.Lys285Thr) c.122A>C (p.Lys41Thr) | |
| 7 | g.151576448T= | CA1752702185 | PRKAG2 | c.143A= (p.Lys48=) c.866A= (p.Lys289=) c.869A= (p.Lys290=) c.146A= (p.Lys49=) n.212A= c.494A= (p.Lys165=) n.363A= c.86A= (p.Lys29=) n.984A= c.*109A= (n.*109A=) n.71A= c.*188A= (n.*188A=) c.737A= (p.Lys246=) c.637A= (n.637A=) c.734A= (p.Lys245=) n.602A= n.250A= n.274A= n.215A= c.497A= (p.Lys166=) c.*118A= (n.*118A=) c.857A= (p.Lys286=) c.854A= (p.Lys285=) c.122A= (p.Lys41=) | |
| 7 | g.151576449T>A | CA370072527 | PRKAG2 | c.142A>T (p.Lys48Ter) c.865A>T (p.Lys289Ter) c.868A>T (p.Lys290Ter) c.145A>T (p.Lys49Ter) n.211A>T c.493A>T (p.Lys165Ter) n.362A>T c.85A>T (p.Lys29Ter) n.983A>T c.*108A>T (n.*108A>T) n.70A>T c.*187A>T (n.*187A>T) c.736A>T (p.Lys246Ter) c.636A>T (n.636A>T) c.733A>T (p.Lys245Ter) n.601A>T n.249A>T n.273A>T n.214A>T c.496A>T (p.Lys166Ter) c.*117A>T (n.*117A>T) c.856A>T (p.Lys286Ter) c.853A>T (p.Lys285Ter) c.121A>T (p.Lys41Ter) | gnomAD v4 COSMIC COSMIC |
| 7 | g.151576449T>C | CA352130 | PRKAG2 | c.142A>G (p.Lys48Glu) c.865A>G (p.Lys289Glu) c.868A>G (p.Lys290Glu) c.145A>G (p.Lys49Glu) n.211A>G c.493A>G (p.Lys165Glu) n.362A>G c.85A>G (p.Lys29Glu) n.983A>G c.*108A>G (n.*108A>G) n.70A>G c.*187A>G (n.*187A>G) c.736A>G (p.Lys246Glu) c.636A>G (n.636A>G) c.733A>G (p.Lys245Glu) n.601A>G n.249A>G n.273A>G n.214A>G c.496A>G (p.Lys166Glu) c.*117A>G (n.*117A>G) c.856A>G (p.Lys286Glu) c.853A>G (p.Lys285Glu) c.121A>G (p.Lys41Glu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.151576449T>G | CA370072528 | PRKAG2 | c.142A>C (p.Lys48Gln) c.865A>C (p.Lys289Gln) c.868A>C (p.Lys290Gln) c.145A>C (p.Lys49Gln) n.211A>C c.493A>C (p.Lys165Gln) n.362A>C c.85A>C (p.Lys29Gln) n.983A>C c.*108A>C (n.*108A>C) n.70A>C c.*187A>C (n.*187A>C) c.736A>C (p.Lys246Gln) c.636A>C (n.636A>C) c.733A>C (p.Lys245Gln) n.601A>C n.249A>C n.273A>C n.214A>C c.496A>C (p.Lys166Gln) c.*117A>C (n.*117A>C) c.856A>C (p.Lys286Gln) c.853A>C (p.Lys285Gln) c.121A>C (p.Lys41Gln) |