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 |
|---|---|---|---|---|---|
| 1 | g.6477534_6477538delinsGGGGG | CA1144228659 | PLEKHG5 | c.34_38delinsCCCCC (p.Pro12=) c.145_149delinsCCCCC (p.Pro49=) n.51_55delinsCCCCC c.241_245delinsCCCCC (p.Pro81=) c.331_335delinsCCCCC (p.Pro111=) c.*246_*250delinsCCCCC (n.*246_*250delinsCCCCC) n.264_268delinsCCCCC c.219_223delinsCCCCC (p.Phe73=) n.240_244delinsCCCCC n.257_261delinsCCCCC c.265_269delinsCCCCC (p.Pro89=) c.202_206delinsCCCCC (p.Pro68=) c.271_275delinsCCCCC (p.Pro91=) | |
| 1 | g.6477538dup | CA2642988584 | PLEKHG5 | c.38dup (p.Gln14ThrfsTer?) c.149dup (p.Gln51ThrfsTer?) n.55dup c.245dup (p.Gln83ThrfsTer?) c.335dup (p.Gln113ThrfsTer?) c.*250dup (n.*250dup) n.268dup c.223dup (p.His75ProfsTer?) n.244dup n.261dup c.269dup (p.Gln91ThrfsTer?) c.206dup (p.Gln70ThrfsTer?) c.275dup (p.Gln93ThrfsTer?) | ClinVar gnomAD v4 |
| 1 | g.6477538del | CA144674 | PLEKHG5 | c.38del (p.Pro13HisfsTer?) c.149del (p.Pro50HisfsTer?) n.55del c.245del (p.Pro82HisfsTer?) c.335del (p.Pro112HisfsTer?) c.*250del (n.*250del) n.268del c.223del (p.His75ThrfsTer?) n.244del n.261del c.269del (p.Pro90HisfsTer?) c.206del (p.Pro69HisfsTer?) c.275del (p.Pro92HisfsTer?) | ClinVar dbSNP gnomAD v4 |
| 1 | g.6477538G>A | CA338141855 | PLEKHG5 | c.34C>T (p.Pro12Ser) c.145C>T (p.Pro49Ser) n.51C>T c.241C>T (p.Pro81Ser) c.331C>T (p.Pro111Ser) c.*246C>T (n.*246C>T) n.264C>T c.219C>T (p.Phe73=) n.240C>T n.257C>T c.265C>T (p.Pro89Ser) c.202C>T (p.Pro68Ser) c.271C>T (p.Pro91Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6477538G>C | CA338141856 | PLEKHG5 | c.34C>G (p.Pro12Ala) c.145C>G (p.Pro49Ala) n.51C>G c.241C>G (p.Pro81Ala) c.331C>G (p.Pro111Ala) c.*246C>G (n.*246C>G) n.264C>G c.219C>G (p.Phe73Leu) n.240C>G n.257C>G c.265C>G (p.Pro89Ala) c.202C>G (p.Pro68Ala) c.271C>G (p.Pro91Ala) | gnomAD v4 |
| 1 | g.6477538G= | CA1141758201 | PLEKHG5 | c.34C= (p.Pro12=) c.145C= (p.Pro49=) n.51C= c.241C= (p.Pro81=) c.331C= (p.Pro111=) c.*246C= (n.*246C=) n.264C= c.219C= (p.Phe73=) n.240C= n.257C= c.265C= (p.Pro89=) c.202C= (p.Pro68=) c.271C= (p.Pro91=) | |
| 1 | g.6477538G>T | CA562038 | PLEKHG5 | c.34C>A (p.Pro12Thr) c.145C>A (p.Pro49Thr) n.51C>A c.241C>A (p.Pro81Thr) c.331C>A (p.Pro111Thr) c.*246C>A (n.*246C>A) n.264C>A c.219C>A (p.Phe73Leu) n.240C>A n.257C>A c.265C>A (p.Pro89Thr) c.202C>A (p.Pro68Thr) c.271C>A (p.Pro91Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6477539A= | CA1142017266 | PLEKHG5 | c.33T= (p.Leu11=) c.144T= (p.Leu48=) n.50T= c.240T= (p.Leu80=) c.330T= (p.Leu110=) c.*245T= (n.*245T=) n.263T= c.218T= (p.Phe73=) n.239T= n.256T= c.264T= (p.Leu88=) c.201T= (p.Leu67=) c.270T= (p.Leu90=) | |
| 1 | g.6477539A>C | CA415835477 | PLEKHG5 | c.33T>G (p.Leu11=) c.144T>G (p.Leu48=) n.50T>G c.240T>G (p.Leu80=) c.330T>G (p.Leu110=) c.*245T>G (n.*245T>G) n.263T>G c.218T>G (p.Phe73Cys) n.239T>G n.256T>G c.264T>G (p.Leu88=) c.201T>G (p.Leu67=) c.270T>G (p.Leu90=) | |
| 1 | g.6477539A>G | CA562039 | PLEKHG5 | c.33T>C (p.Leu11=) c.144T>C (p.Leu48=) n.50T>C c.240T>C (p.Leu80=) c.330T>C (p.Leu110=) c.*245T>C (n.*245T>C) n.263T>C c.218T>C (p.Phe73Ser) n.239T>C n.256T>C c.264T>C (p.Leu88=) c.201T>C (p.Leu67=) c.270T>C (p.Leu90=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6477539A>T | CA415835478 | PLEKHG5 | c.33T>A (p.Leu11=) c.144T>A (p.Leu48=) n.50T>A c.240T>A (p.Leu80=) c.330T>A (p.Leu110=) c.*245T>A (n.*245T>A) n.263T>A c.218T>A (p.Phe73Tyr) n.239T>A n.256T>A c.264T>A (p.Leu88=) c.201T>A (p.Leu67=) c.270T>A (p.Leu90=) | |
| 1 | g.6477540del | CA2642988708 | PLEKHG5 | c.33del (p.Pro13HisfsTer?) c.144del (p.Pro50HisfsTer?) n.50del c.240del (p.Pro82HisfsTer?) c.330del (p.Pro112HisfsTer?) c.*245del (n.*245del) n.263del c.218del (p.Phe73SerfsTer?) n.239del n.256del c.264del (p.Pro90HisfsTer?) c.201del (p.Pro69HisfsTer?) c.270del (p.Pro92HisfsTer?) | gnomAD v4 |
| 1 | g.6477540A= | CA1151513881 | PLEKHG5 | c.32T= (p.Leu11=) c.143T= (p.Leu48=) n.49T= c.239T= (p.Leu80=) c.329T= (p.Leu110=) c.*244T= (n.*244T=) n.262T= c.217T= (p.Phe73=) n.238T= n.255T= c.263T= (p.Leu88=) c.200T= (p.Leu67=) c.269T= (p.Leu90=) | |
| 1 | g.6477540A>C | CA338141859 | PLEKHG5 | c.32T>G (p.Leu11Arg) c.143T>G (p.Leu48Arg) n.49T>G c.239T>G (p.Leu80Arg) c.329T>G (p.Leu110Arg) c.*244T>G (n.*244T>G) n.262T>G c.217T>G (p.Phe73Val) n.238T>G n.255T>G c.263T>G (p.Leu88Arg) c.200T>G (p.Leu67Arg) c.269T>G (p.Leu90Arg) | |
| 1 | g.6477540A>G | CA338141861 | PLEKHG5 | c.32T>C (p.Leu11Pro) c.143T>C (p.Leu48Pro) n.49T>C c.239T>C (p.Leu80Pro) c.329T>C (p.Leu110Pro) c.*244T>C (n.*244T>C) n.262T>C c.217T>C (p.Phe73Leu) n.238T>C n.255T>C c.263T>C (p.Leu88Pro) c.200T>C (p.Leu67Pro) c.269T>C (p.Leu90Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6477540A>T | CA338141863 | PLEKHG5 | c.32T>A (p.Leu11His) c.143T>A (p.Leu48His) n.49T>A c.239T>A (p.Leu80His) c.329T>A (p.Leu110His) c.*244T>A (n.*244T>A) n.262T>A c.217T>A (p.Phe73Ile) n.238T>A n.255T>A c.263T>A (p.Leu88His) c.200T>A (p.Leu67His) c.269T>A (p.Leu90His) | |
| 1 | g.6477541G>A | CA338141865 | PLEKHG5 | c.31C>T (p.Leu11Phe) c.142C>T (p.Leu48Phe) n.48C>T c.238C>T (p.Leu80Phe) c.328C>T (p.Leu110Phe) c.*243C>T (n.*243C>T) n.261C>T c.216C>T (p.Thr72=) n.237C>T n.254C>T c.262C>T (p.Leu88Phe) c.199C>T (p.Leu67Phe) c.268C>T (p.Leu90Phe) | dbSNP gnomAD v4 |
| 1 | g.6477541G>C | CA338141866 | PLEKHG5 | c.31C>G (p.Leu11Val) c.142C>G (p.Leu48Val) n.48C>G c.238C>G (p.Leu80Val) c.328C>G (p.Leu110Val) c.*243C>G (n.*243C>G) n.261C>G c.216C>G (p.Thr72=) n.237C>G n.254C>G c.262C>G (p.Leu88Val) c.199C>G (p.Leu67Val) c.268C>G (p.Leu90Val) | COSMIC COSMIC COSMIC |
| 1 | g.6477541G>T | CA338141868 | PLEKHG5 | c.31C>A (p.Leu11Ile) c.142C>A (p.Leu48Ile) n.48C>A c.238C>A (p.Leu80Ile) c.328C>A (p.Leu110Ile) c.*243C>A (n.*243C>A) n.261C>A c.216C>A (p.Thr72=) n.237C>A n.254C>A c.262C>A (p.Leu88Ile) c.199C>A (p.Leu67Ile) c.268C>A (p.Leu90Ile) | |
| 1 | g.6477542G>A | CA562040 | PLEKHG5 | c.30C>T (p.Asp10=) c.141C>T (p.Asp47=) n.47C>T c.237C>T (p.Asp79=) c.327C>T (p.Asp109=) c.*242C>T (n.*242C>T) n.260C>T c.215C>T (p.Thr72Ile) n.236C>T n.253C>T c.261C>T (p.Asp87=) c.198C>T (p.Asp66=) c.267C>T (p.Asp89=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6477542G>C | CA338141871 | PLEKHG5 | c.30C>G (p.Asp10Glu) c.141C>G (p.Asp47Glu) n.47C>G c.237C>G (p.Asp79Glu) c.327C>G (p.Asp109Glu) c.*242C>G (n.*242C>G) n.260C>G c.215C>G (p.Thr72Ser) n.236C>G n.253C>G c.261C>G (p.Asp87Glu) c.198C>G (p.Asp66Glu) c.267C>G (p.Asp89Glu) | |
| 1 | g.6477542G= | CA1141386636 | PLEKHG5 | c.30C= (p.Asp10=) c.141C= (p.Asp47=) n.47C= c.237C= (p.Asp79=) c.327C= (p.Asp109=) c.*242C= (n.*242C=) n.260C= c.215C= (p.Thr72=) n.236C= n.253C= c.261C= (p.Asp87=) c.198C= (p.Asp66=) c.267C= (p.Asp89=) | |
| 1 | g.6477542G>T | CA338141872 | PLEKHG5 | c.30C>A (p.Asp10Glu) c.141C>A (p.Asp47Glu) n.47C>A c.237C>A (p.Asp79Glu) c.327C>A (p.Asp109Glu) c.*242C>A (n.*242C>A) n.260C>A c.215C>A (p.Thr72Asn) n.236C>A n.253C>A c.261C>A (p.Asp87Glu) c.198C>A (p.Asp66Glu) c.267C>A (p.Asp89Glu) | gnomAD v4 |
| 1 | g.6477543T>A | CA338141874 | PLEKHG5 | c.29A>T (p.Asp10Val) c.140A>T (p.Asp47Val) n.46A>T c.236A>T (p.Asp79Val) c.326A>T (p.Asp109Val) c.*241A>T (n.*241A>T) n.259A>T c.214A>T (p.Thr72Ser) n.235A>T n.252A>T c.260A>T (p.Asp87Val) c.197A>T (p.Asp66Val) c.266A>T (p.Asp89Val) | |
| 1 | g.6477543T>C | CA338141876 | PLEKHG5 | c.29A>G (p.Asp10Gly) c.140A>G (p.Asp47Gly) n.46A>G c.236A>G (p.Asp79Gly) c.326A>G (p.Asp109Gly) c.*241A>G (n.*241A>G) n.259A>G c.214A>G (p.Thr72Ala) n.235A>G n.252A>G c.260A>G (p.Asp87Gly) c.197A>G (p.Asp66Gly) c.266A>G (p.Asp89Gly) | |
| 1 | g.6477543T>G | CA338141878 | PLEKHG5 | c.29A>C (p.Asp10Ala) c.140A>C (p.Asp47Ala) n.46A>C c.236A>C (p.Asp79Ala) c.326A>C (p.Asp109Ala) c.*241A>C (n.*241A>C) n.259A>C c.214A>C (p.Thr72Pro) n.235A>C n.252A>C c.260A>C (p.Asp87Ala) c.197A>C (p.Asp66Ala) c.266A>C (p.Asp89Ala) | |
| 1 | g.6477544C>A | CA338141883 | PLEKHG5 | c.28G>T (p.Asp10Tyr) c.139G>T (p.Asp47Tyr) n.45G>T c.235G>T (p.Asp79Tyr) c.325G>T (p.Asp109Tyr) c.*240G>T (n.*240G>T) n.258G>T c.213G>T (p.Ser71=) n.234G>T n.251G>T c.259G>T (p.Asp87Tyr) c.196G>T (p.Asp66Tyr) c.265G>T (p.Asp89Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6477544C= | CA1151513892 | PLEKHG5 | c.28G= (p.Asp10=) c.139G= (p.Asp47=) n.45G= c.235G= (p.Asp79=) c.325G= (p.Asp109=) c.*240G= (n.*240G=) n.258G= c.213G= (p.Ser71=) n.234G= n.251G= c.259G= (p.Asp87=) c.196G= (p.Asp66=) c.265G= (p.Asp89=) | |
| 1 | g.6477544C>G | CA562041 | PLEKHG5 | c.28G>C (p.Asp10His) c.139G>C (p.Asp47His) n.45G>C c.235G>C (p.Asp79His) c.325G>C (p.Asp109His) c.*240G>C (n.*240G>C) n.258G>C c.213G>C (p.Ser71=) n.234G>C n.251G>C c.259G>C (p.Asp87His) c.196G>C (p.Asp66His) c.265G>C (p.Asp89His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6477544C>T | CA17246475 | PLEKHG5 | c.28G>A (p.Asp10Asn) c.139G>A (p.Asp47Asn) n.45G>A c.235G>A (p.Asp79Asn) c.325G>A (p.Asp109Asn) c.*240G>A (n.*240G>A) n.258G>A c.213G>A (p.Ser71=) n.234G>A n.251G>A c.259G>A (p.Asp87Asn) c.196G>A (p.Asp66Asn) c.265G>A (p.Asp89Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.6477545G>A | CA562042 | PLEKHG5 | c.27C>T (p.Phe9=) c.138C>T (p.Phe46=) n.44C>T c.234C>T (p.Phe78=) c.324C>T (p.Phe108=) c.*239C>T (n.*239C>T) n.257C>T c.212C>T (p.Ser71Leu) n.233C>T n.250C>T c.258C>T (p.Phe86=) c.195C>T (p.Phe65=) c.264C>T (p.Phe88=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6477545G>C | CA338141888 | PLEKHG5 | c.27C>G (p.Phe9Leu) c.138C>G (p.Phe46Leu) n.44C>G c.234C>G (p.Phe78Leu) c.324C>G (p.Phe108Leu) c.*239C>G (n.*239C>G) n.257C>G c.212C>G (p.Ser71Trp) n.233C>G n.250C>G c.258C>G (p.Phe86Leu) c.195C>G (p.Phe65Leu) c.264C>G (p.Phe88Leu) | |
| 1 | g.6477545G= | CA1151513895 | PLEKHG5 | c.27C= (p.Phe9=) c.138C= (p.Phe46=) n.44C= c.234C= (p.Phe78=) c.324C= (p.Phe108=) c.*239C= (n.*239C=) n.257C= c.212C= (p.Ser71=) n.233C= n.250C= c.258C= (p.Phe86=) c.195C= (p.Phe65=) c.264C= (p.Phe88=) | |
| 1 | g.6477545G>T | CA338141891 | PLEKHG5 | c.27C>A (p.Phe9Leu) c.138C>A (p.Phe46Leu) n.44C>A c.234C>A (p.Phe78Leu) c.324C>A (p.Phe108Leu) c.*239C>A (n.*239C>A) n.257C>A c.212C>A (p.Ser71Ter) n.233C>A n.250C>A c.258C>A (p.Phe86Leu) c.195C>A (p.Phe65Leu) c.264C>A (p.Phe88Leu) | |
| 1 | g.6477546A>C | CA338141894 | PLEKHG5 | c.26T>G (p.Phe9Cys) c.137T>G (p.Phe46Cys) n.43T>G c.233T>G (p.Phe78Cys) c.323T>G (p.Phe108Cys) c.*238T>G (n.*238T>G) n.256T>G c.211T>G (p.Ser71Ala) n.232T>G n.249T>G c.257T>G (p.Phe86Cys) c.194T>G (p.Phe65Cys) c.263T>G (p.Phe88Cys) | |
| 1 | g.6477546A>G | CA338141897 | PLEKHG5 | c.26T>C (p.Phe9Ser) c.137T>C (p.Phe46Ser) n.43T>C c.233T>C (p.Phe78Ser) c.323T>C (p.Phe108Ser) c.*238T>C (n.*238T>C) n.256T>C c.211T>C (p.Ser71Pro) n.232T>C n.249T>C c.257T>C (p.Phe86Ser) c.194T>C (p.Phe65Ser) c.263T>C (p.Phe88Ser) | |
| 1 | g.6477546A>T | CA338141899 | PLEKHG5 | c.26T>A (p.Phe9Tyr) c.137T>A (p.Phe46Tyr) n.43T>A c.233T>A (p.Phe78Tyr) c.323T>A (p.Phe108Tyr) c.*238T>A (n.*238T>A) n.256T>A c.211T>A (p.Ser71Thr) n.232T>A n.249T>A c.257T>A (p.Phe86Tyr) c.194T>A (p.Phe65Tyr) c.263T>A (p.Phe88Tyr) | |
| 1 | g.6477547A>C | CA338141901 | PLEKHG5 | c.25T>G (p.Phe9Val) c.136T>G (p.Phe46Val) n.42T>G c.232T>G (p.Phe78Val) c.322T>G (p.Phe108Val) c.*237T>G (n.*237T>G) n.255T>G c.210T>G (p.Ala70=) n.231T>G n.248T>G c.256T>G (p.Phe86Val) c.193T>G (p.Phe65Val) c.262T>G (p.Phe88Val) | |
| 1 | g.6477547A>G | CA338141907 | PLEKHG5 | c.25T>C (p.Phe9Leu) c.136T>C (p.Phe46Leu) n.42T>C c.232T>C (p.Phe78Leu) c.322T>C (p.Phe108Leu) c.*237T>C (n.*237T>C) n.255T>C c.210T>C (p.Ala70=) n.231T>C n.248T>C c.256T>C (p.Phe86Leu) c.193T>C (p.Phe65Leu) c.262T>C (p.Phe88Leu) | gnomAD v4 |
| 1 | g.6477547A>T | CA338141909 | PLEKHG5 | c.25T>A (p.Phe9Ile) c.136T>A (p.Phe46Ile) n.42T>A c.232T>A (p.Phe78Ile) c.322T>A (p.Phe108Ile) c.*237T>A (n.*237T>A) n.255T>A c.210T>A (p.Ala70=) n.231T>A n.248T>A c.256T>A (p.Phe86Ile) c.193T>A (p.Phe65Ile) c.262T>A (p.Phe88Ile) | |
| 1 | g.6477548G>A | CA415835485 | PLEKHG5 | c.24C>T (p.Arg8=) c.135C>T (p.Arg45=) n.41C>T c.231C>T (p.Arg77=) c.321C>T (p.Arg107=) c.*236C>T (n.*236C>T) n.254C>T c.209C>T (p.Ala70Val) n.230C>T n.247C>T c.255C>T (p.Arg85=) c.192C>T (p.Arg64=) c.261C>T (p.Arg87=) | |
| 1 | g.6477548G>C | CA415835486 | PLEKHG5 | c.24C>G (p.Arg8=) c.135C>G (p.Arg45=) n.41C>G c.231C>G (p.Arg77=) c.321C>G (p.Arg107=) c.*236C>G (n.*236C>G) n.254C>G c.209C>G (p.Ala70Gly) n.230C>G n.247C>G c.255C>G (p.Arg85=) c.192C>G (p.Arg64=) c.261C>G (p.Arg87=) | |
| 1 | g.6477548G>T | CA415835487 | PLEKHG5 | c.24C>A (p.Arg8=) c.135C>A (p.Arg45=) n.41C>A c.231C>A (p.Arg77=) c.321C>A (p.Arg107=) c.*236C>A (n.*236C>A) n.254C>A c.209C>A (p.Ala70Asp) n.230C>A n.247C>A c.255C>A (p.Arg85=) c.192C>A (p.Arg64=) c.261C>A (p.Arg87=) | gnomAD v4 |
| 1 | g.6477549C>A | CA338141912 | PLEKHG5 | c.23G>T (p.Arg8Leu) c.134G>T (p.Arg45Leu) n.40G>T c.230G>T (p.Arg77Leu) c.320G>T (p.Arg107Leu) c.*235G>T (n.*235G>T) n.253G>T c.208G>T (p.Ala70Ser) n.229G>T n.246G>T c.254G>T (p.Arg85Leu) c.191G>T (p.Arg64Leu) c.260G>T (p.Arg87Leu) | gnomAD v4 |
| 1 | g.6477549C= | CA1151513897 | PLEKHG5 | c.23G= (p.Arg8=) c.134G= (p.Arg45=) n.40G= c.230G= (p.Arg77=) c.320G= (p.Arg107=) c.*235G= (n.*235G=) n.253G= c.208G= (p.Ala70=) n.229G= n.246G= c.254G= (p.Arg85=) c.191G= (p.Arg64=) c.260G= (p.Arg87=) | |
| 1 | g.6477549C>G | CA338141915 | PLEKHG5 | c.23G>C (p.Arg8Pro) c.134G>C (p.Arg45Pro) n.40G>C c.230G>C (p.Arg77Pro) c.320G>C (p.Arg107Pro) c.*235G>C (n.*235G>C) n.253G>C c.208G>C (p.Ala70Pro) n.229G>C n.246G>C c.254G>C (p.Arg85Pro) c.191G>C (p.Arg64Pro) c.260G>C (p.Arg87Pro) | |
| 1 | g.6477549C>T | CA562043 | PLEKHG5 | c.23G>A (p.Arg8His) c.134G>A (p.Arg45His) n.40G>A c.230G>A (p.Arg77His) c.320G>A (p.Arg107His) c.*235G>A (n.*235G>A) n.253G>A c.208G>A (p.Ala70Thr) n.229G>A n.246G>A c.254G>A (p.Arg85His) c.191G>A (p.Arg64His) c.260G>A (p.Arg87His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6477550G>A | CA562044 | PLEKHG5 | c.22C>T (p.Arg8Cys) c.133C>T (p.Arg45Cys) n.39C>T c.229C>T (p.Arg77Cys) c.319C>T (p.Arg107Cys) c.*234C>T (n.*234C>T) n.252C>T c.207C>T (p.Ser69=) n.228C>T n.245C>T c.253C>T (p.Arg85Cys) c.190C>T (p.Arg64Cys) c.259C>T (p.Arg87Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.6477550G>C | CA338141924 | PLEKHG5 | c.22C>G (p.Arg8Gly) c.133C>G (p.Arg45Gly) n.39C>G c.229C>G (p.Arg77Gly) c.319C>G (p.Arg107Gly) c.*234C>G (n.*234C>G) n.252C>G c.207C>G (p.Ser69=) n.228C>G n.245C>G c.253C>G (p.Arg85Gly) c.190C>G (p.Arg64Gly) c.259C>G (p.Arg87Gly) | |
| 1 | g.6477550G= | CA1151513900 | PLEKHG5 | c.22C= (p.Arg8=) c.133C= (p.Arg45=) n.39C= c.229C= (p.Arg77=) c.319C= (p.Arg107=) c.*234C= (n.*234C=) n.252C= c.207C= (p.Ser69=) n.228C= n.245C= c.253C= (p.Arg85=) c.190C= (p.Arg64=) c.259C= (p.Arg87=) |