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.6474030C>A | CA338138404 | PLEKHG5 | c.574G>T (p.Glu192Ter) c.748G>T (p.Glu250Ter) c.685G>T (p.Glu229Ter) n.1050G>T c.781G>T (p.Glu261Ter) c.871G>T (p.Glu291Ter) c.*786G>T (n.*786G>T) c.*402G>T (n.*402G>T) c.805G>T (p.Glu269Ter) c.742G>T (p.Glu248Ter) c.811G>T (p.Glu271Ter) | |
| 1 | g.6474030C= | CA1151505654 | PLEKHG5 | c.574G= (p.Glu192=) c.748G= (p.Glu250=) c.685G= (p.Glu229=) n.1050G= c.781G= (p.Glu261=) c.871G= (p.Glu291=) c.*786G= (n.*786G=) c.*402G= (n.*402G=) c.805G= (p.Glu269=) c.742G= (p.Glu248=) c.811G= (p.Glu271=) | |
| 1 | g.6474030C>G | CA338138402 | PLEKHG5 | c.574G>C (p.Glu192Gln) c.748G>C (p.Glu250Gln) c.685G>C (p.Glu229Gln) n.1050G>C c.781G>C (p.Glu261Gln) c.871G>C (p.Glu291Gln) c.*786G>C (n.*786G>C) c.*402G>C (n.*402G>C) c.805G>C (p.Glu269Gln) c.742G>C (p.Glu248Gln) c.811G>C (p.Glu271Gln) | |
| 1 | g.6474030C>T | CA338138399 | PLEKHG5 | c.574G>A (p.Glu192Lys) c.748G>A (p.Glu250Lys) c.685G>A (p.Glu229Lys) n.1050G>A c.781G>A (p.Glu261Lys) c.871G>A (p.Glu291Lys) c.*786G>A (n.*786G>A) c.*402G>A (n.*402G>A) c.805G>A (p.Glu269Lys) c.742G>A (p.Glu248Lys) c.811G>A (p.Glu271Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6474031C>A | CA415833900 | PLEKHG5 | c.573G>T (p.Arg191=) c.747G>T (p.Arg249=) c.684G>T (p.Arg228=) n.1049G>T c.780G>T (p.Arg260=) c.870G>T (p.Arg290=) c.*785G>T (n.*785G>T) c.*401G>T (n.*401G>T) c.804G>T (p.Arg268=) c.741G>T (p.Arg247=) c.810G>T (p.Arg270=) | |
| 1 | g.6474031C= | CA1148572400 | PLEKHG5 | c.573G= (p.Arg191=) c.747G= (p.Arg249=) c.684G= (p.Arg228=) n.1049G= c.780G= (p.Arg260=) c.870G= (p.Arg290=) c.*785G= (n.*785G=) c.*401G= (n.*401G=) c.804G= (p.Arg268=) c.741G= (p.Arg247=) c.810G= (p.Arg270=) | |
| 1 | g.6474031C>G | CA415833901 | PLEKHG5 | c.573G>C (p.Arg191=) c.747G>C (p.Arg249=) c.684G>C (p.Arg228=) n.1049G>C c.780G>C (p.Arg260=) c.870G>C (p.Arg290=) c.*785G>C (n.*785G>C) c.*401G>C (n.*401G>C) c.804G>C (p.Arg268=) c.741G>C (p.Arg247=) c.810G>C (p.Arg270=) | |
| 1 | g.6474031C>T | CA561801 | PLEKHG5 | c.573G>A (p.Arg191=) c.747G>A (p.Arg249=) c.684G>A (p.Arg228=) n.1049G>A c.780G>A (p.Arg260=) c.870G>A (p.Arg290=) c.*785G>A (n.*785G>A) c.*401G>A (n.*401G>A) c.804G>A (p.Arg268=) c.741G>A (p.Arg247=) c.810G>A (p.Arg270=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.6474031_6474034delinsCCGG | CA1151505659 | PLEKHG5 | c.570_573delinsCCGG (p.Arg190=) c.744_747delinsCCGG (p.Arg248=) c.681_684delinsCCGG (p.Arg227=) n.1046_1049delinsCCGG c.777_780delinsCCGG (p.Arg259=) c.867_870delinsCCGG (p.Arg289=) c.*782_*785delinsCCGG (n.*782_*785delinsCCGG) c.*398_*401delinsCCGG (n.*398_*401delinsCCGG) c.801_804delinsCCGG (p.Arg267=) c.738_741delinsCCGG (p.Arg246=) c.807_810delinsCCGG (p.Arg269=) | |
| 1 | g.6474032C>A | CA561803 | PLEKHG5 | c.572G>T (p.Arg191Leu) c.746G>T (p.Arg249Leu) c.683G>T (p.Arg228Leu) n.1048G>T c.779G>T (p.Arg260Leu) c.869G>T (p.Arg290Leu) c.*784G>T (n.*784G>T) c.*400G>T (n.*400G>T) c.803G>T (p.Arg268Leu) c.740G>T (p.Arg247Leu) c.809G>T (p.Arg270Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474032C= | CA1145299519 | PLEKHG5 | c.572G= (p.Arg191=) c.746G= (p.Arg249=) c.683G= (p.Arg228=) n.1048G= c.779G= (p.Arg260=) c.869G= (p.Arg290=) c.*784G= (n.*784G=) c.*400G= (n.*400G=) c.803G= (p.Arg268=) c.740G= (p.Arg247=) c.809G= (p.Arg270=) | |
| 1 | g.6474032C>G | CA338138411 | PLEKHG5 | c.572G>C (p.Arg191Pro) c.746G>C (p.Arg249Pro) c.683G>C (p.Arg228Pro) n.1048G>C c.779G>C (p.Arg260Pro) c.869G>C (p.Arg290Pro) c.*784G>C (n.*784G>C) c.*400G>C (n.*400G>C) c.803G>C (p.Arg268Pro) c.740G>C (p.Arg247Pro) c.809G>C (p.Arg270Pro) | |
| 1 | g.6474032C>T | CA561802 | PLEKHG5 | c.572G>A (p.Arg191Gln) c.746G>A (p.Arg249Gln) c.683G>A (p.Arg228Gln) n.1048G>A c.779G>A (p.Arg260Gln) c.869G>A (p.Arg290Gln) c.*784G>A (n.*784G>A) c.*400G>A (n.*400G>A) c.803G>A (p.Arg268Gln) c.740G>A (p.Arg247Gln) c.809G>A (p.Arg270Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474036_6474038del | CA521018914 | PLEKHG5 | c.570_572del (p.Arg191del) c.744_746del (p.Arg249del) c.681_683del (p.Arg228del) n.1046_1048del c.777_779del (p.Arg260del) c.867_869del (p.Arg290del) c.*782_*784del (n.*782_*784del) c.*398_*400del (n.*398_*400del) c.801_803del (p.Arg268del) c.738_740del (p.Arg247del) c.807_809del (p.Arg270del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474033G>A | CA561804 | PLEKHG5 | c.571C>T (p.Arg191Trp) c.745C>T (p.Arg249Trp) c.682C>T (p.Arg228Trp) n.1047C>T c.778C>T (p.Arg260Trp) c.868C>T (p.Arg290Trp) c.*783C>T (n.*783C>T) c.*399C>T (n.*399C>T) c.802C>T (p.Arg268Trp) c.739C>T (p.Arg247Trp) c.808C>T (p.Arg270Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474033G>C | CA338138417 | PLEKHG5 | c.571C>G (p.Arg191Gly) c.745C>G (p.Arg249Gly) c.682C>G (p.Arg228Gly) n.1047C>G c.778C>G (p.Arg260Gly) c.868C>G (p.Arg290Gly) c.*783C>G (n.*783C>G) c.*399C>G (n.*399C>G) c.802C>G (p.Arg268Gly) c.739C>G (p.Arg247Gly) c.808C>G (p.Arg270Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6474033G= | CA1142645352 | PLEKHG5 | c.571C= (p.Arg191=) c.745C= (p.Arg249=) c.682C= (p.Arg228=) n.1047C= c.778C= (p.Arg260=) c.868C= (p.Arg290=) c.*783C= (n.*783C=) c.*399C= (n.*399C=) c.802C= (p.Arg268=) c.739C= (p.Arg247=) c.808C= (p.Arg270=) | |
| 1 | g.6474033G>T | CA415833902 | PLEKHG5 | c.571C>A (p.Arg191=) c.745C>A (p.Arg249=) c.682C>A (p.Arg228=) n.1047C>A c.778C>A (p.Arg260=) c.868C>A (p.Arg290=) c.*783C>A (n.*783C>A) c.*399C>A (n.*399C>A) c.802C>A (p.Arg268=) c.739C>A (p.Arg247=) c.808C>A (p.Arg270=) | gnomAD v4 |
| 1 | g.6474037_6474046del | CA2742323541 | PLEKHG5 | c.562_571del (p.Gln188GlyfsTer?) c.736_745del (p.Gln246GlyfsTer?) c.673_682del (p.Gln225GlyfsTer?) n.1038_1047del c.769_778del (p.Gln257GlyfsTer?) c.859_868del (p.Gln287GlyfsTer?) c.*774_*783del (n.*774_*783del) c.*390_*399del (n.*390_*399del) c.793_802del (p.Gln265GlyfsTer?) c.730_739del (p.Gln244GlyfsTer?) c.799_808del (p.Gln267GlyfsTer?) | |
| 1 | g.6474034G>A | CA415833903 | PLEKHG5 | c.570C>T (p.Arg190=) c.744C>T (p.Arg248=) c.681C>T (p.Arg227=) n.1046C>T c.777C>T (p.Arg259=) c.867C>T (p.Arg289=) c.*782C>T (n.*782C>T) c.*398C>T (n.*398C>T) c.801C>T (p.Arg267=) c.738C>T (p.Arg246=) c.807C>T (p.Arg269=) | gnomAD v4 |
| 1 | g.6474034G>C | CA415833904 | PLEKHG5 | c.570C>G (p.Arg190=) c.744C>G (p.Arg248=) c.681C>G (p.Arg227=) n.1046C>G c.777C>G (p.Arg259=) c.867C>G (p.Arg289=) c.*782C>G (n.*782C>G) c.*398C>G (n.*398C>G) c.801C>G (p.Arg267=) c.738C>G (p.Arg246=) c.807C>G (p.Arg269=) | |
| 1 | g.6474034G>T | CA415833905 | PLEKHG5 | c.570C>A (p.Arg190=) c.744C>A (p.Arg248=) c.681C>A (p.Arg227=) n.1046C>A c.777C>A (p.Arg259=) c.867C>A (p.Arg289=) c.*782C>A (n.*782C>A) c.*398C>A (n.*398C>A) c.801C>A (p.Arg267=) c.738C>A (p.Arg246=) c.807C>A (p.Arg269=) | |
| 1 | g.6474035C>A | CA561806 | PLEKHG5 | c.569G>T (p.Arg190Leu) c.743G>T (p.Arg248Leu) c.680G>T (p.Arg227Leu) n.1045G>T c.776G>T (p.Arg259Leu) c.866G>T (p.Arg289Leu) c.*781G>T (n.*781G>T) c.*397G>T (n.*397G>T) c.800G>T (p.Arg267Leu) c.737G>T (p.Arg246Leu) c.806G>T (p.Arg269Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474035C= | CA1151505682 | PLEKHG5 | c.569G= (p.Arg190=) c.743G= (p.Arg248=) c.680G= (p.Arg227=) n.1045G= c.776G= (p.Arg259=) c.866G= (p.Arg289=) c.*781G= (n.*781G=) c.*397G= (n.*397G=) c.800G= (p.Arg267=) c.737G= (p.Arg246=) c.806G= (p.Arg269=) | |
| 1 | g.6474035C>G | CA338138421 | PLEKHG5 | c.569G>C (p.Arg190Pro) c.743G>C (p.Arg248Pro) c.680G>C (p.Arg227Pro) n.1045G>C c.776G>C (p.Arg259Pro) c.866G>C (p.Arg289Pro) c.*781G>C (n.*781G>C) c.*397G>C (n.*397G>C) c.800G>C (p.Arg267Pro) c.737G>C (p.Arg246Pro) c.806G>C (p.Arg269Pro) | gnomAD v4 |
| 1 | g.6474035C>T | CA561805 | PLEKHG5 | c.569G>A (p.Arg190His) c.743G>A (p.Arg248His) c.680G>A (p.Arg227His) n.1045G>A c.776G>A (p.Arg259His) c.866G>A (p.Arg289His) c.*781G>A (n.*781G>A) c.*397G>A (n.*397G>A) c.800G>A (p.Arg267His) c.737G>A (p.Arg246His) c.806G>A (p.Arg269His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474036G>A | CA561807 | PLEKHG5 | c.568C>T (p.Arg190Cys) c.742C>T (p.Arg248Cys) c.679C>T (p.Arg227Cys) n.1044C>T c.775C>T (p.Arg259Cys) c.865C>T (p.Arg289Cys) c.*780C>T (n.*780C>T) c.*396C>T (n.*396C>T) c.799C>T (p.Arg267Cys) c.736C>T (p.Arg246Cys) c.805C>T (p.Arg269Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.6474036G>C | CA338138431 | PLEKHG5 | c.568C>G (p.Arg190Gly) c.742C>G (p.Arg248Gly) c.679C>G (p.Arg227Gly) n.1044C>G c.775C>G (p.Arg259Gly) c.865C>G (p.Arg289Gly) c.*780C>G (n.*780C>G) c.*396C>G (n.*396C>G) c.799C>G (p.Arg267Gly) c.736C>G (p.Arg246Gly) c.805C>G (p.Arg269Gly) | |
| 1 | g.6474036G= | CA1151505714 | PLEKHG5 | c.568C= (p.Arg190=) c.742C= (p.Arg248=) c.679C= (p.Arg227=) n.1044C= c.775C= (p.Arg259=) c.865C= (p.Arg289=) c.*780C= (n.*780C=) c.*396C= (n.*396C=) c.799C= (p.Arg267=) c.736C= (p.Arg246=) c.805C= (p.Arg269=) | |
| 1 | g.6474036G>T | CA338138434 | PLEKHG5 | c.568C>A (p.Arg190Ser) c.742C>A (p.Arg248Ser) c.679C>A (p.Arg227Ser) n.1044C>A c.775C>A (p.Arg259Ser) c.865C>A (p.Arg289Ser) c.*780C>A (n.*780C>A) c.*396C>A (n.*396C>A) c.799C>A (p.Arg267Ser) c.736C>A (p.Arg246Ser) c.805C>A (p.Arg269Ser) | |
| 1 | g.6474037G>A | CA561808 | PLEKHG5 | c.567C>T (p.Ser189=) c.741C>T (p.Ser247=) c.678C>T (p.Ser226=) n.1043C>T c.774C>T (p.Ser258=) c.864C>T (p.Ser288=) c.*779C>T (n.*779C>T) c.*395C>T (n.*395C>T) c.798C>T (p.Ser266=) c.735C>T (p.Ser245=) c.804C>T (p.Ser268=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474037G>C | CA338138439 | PLEKHG5 | c.567C>G (p.Ser189Arg) c.741C>G (p.Ser247Arg) c.678C>G (p.Ser226Arg) n.1043C>G c.774C>G (p.Ser258Arg) c.864C>G (p.Ser288Arg) c.*779C>G (n.*779C>G) c.*395C>G (n.*395C>G) c.798C>G (p.Ser266Arg) c.735C>G (p.Ser245Arg) c.804C>G (p.Ser268Arg) | |
| 1 | g.6474037G= | CA1151505722 | PLEKHG5 | c.567C= (p.Ser189=) c.741C= (p.Ser247=) c.678C= (p.Ser226=) n.1043C= c.774C= (p.Ser258=) c.864C= (p.Ser288=) c.*779C= (n.*779C=) c.*395C= (n.*395C=) c.798C= (p.Ser266=) c.735C= (p.Ser245=) c.804C= (p.Ser268=) | |
| 1 | g.6474037G>T | CA338138442 | PLEKHG5 | c.567C>A (p.Ser189Arg) c.741C>A (p.Ser247Arg) c.678C>A (p.Ser226Arg) n.1043C>A c.774C>A (p.Ser258Arg) c.864C>A (p.Ser288Arg) c.*779C>A (n.*779C>A) c.*395C>A (n.*395C>A) c.798C>A (p.Ser266Arg) c.735C>A (p.Ser245Arg) c.804C>A (p.Ser268Arg) | |
| 1 | g.6474038C>A | CA338138445 | PLEKHG5 | c.566G>T (p.Ser189Ile) c.740G>T (p.Ser247Ile) c.677G>T (p.Ser226Ile) n.1042G>T c.773G>T (p.Ser258Ile) c.863G>T (p.Ser288Ile) c.*778G>T (n.*778G>T) c.*394G>T (n.*394G>T) c.797G>T (p.Ser266Ile) c.734G>T (p.Ser245Ile) c.803G>T (p.Ser268Ile) | |
| 1 | g.6474038C= | CA1151505726 | PLEKHG5 | c.566G= (p.Ser189=) c.740G= (p.Ser247=) c.677G= (p.Ser226=) n.1042G= c.773G= (p.Ser258=) c.863G= (p.Ser288=) c.*778G= (n.*778G=) c.*394G= (n.*394G=) c.797G= (p.Ser266=) c.734G= (p.Ser245=) c.803G= (p.Ser268=) | |
| 1 | g.6474038C>G | CA338138448 | PLEKHG5 | c.566G>C (p.Ser189Thr) c.740G>C (p.Ser247Thr) c.677G>C (p.Ser226Thr) n.1042G>C c.773G>C (p.Ser258Thr) c.863G>C (p.Ser288Thr) c.*778G>C (n.*778G>C) c.*394G>C (n.*394G>C) c.797G>C (p.Ser266Thr) c.734G>C (p.Ser245Thr) c.803G>C (p.Ser268Thr) | |
| 1 | g.6474038C>T | CA338138446 | PLEKHG5 | c.566G>A (p.Ser189Asn) c.740G>A (p.Ser247Asn) c.677G>A (p.Ser226Asn) n.1042G>A c.773G>A (p.Ser258Asn) c.863G>A (p.Ser288Asn) c.*778G>A (n.*778G>A) c.*394G>A (n.*394G>A) c.797G>A (p.Ser266Asn) c.734G>A (p.Ser245Asn) c.803G>A (p.Ser268Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474039T>A | CA338138454 | PLEKHG5 | c.565A>T (p.Ser189Cys) c.739A>T (p.Ser247Cys) c.676A>T (p.Ser226Cys) n.1041A>T c.772A>T (p.Ser258Cys) c.862A>T (p.Ser288Cys) c.*777A>T (n.*777A>T) c.*393A>T (n.*393A>T) c.796A>T (p.Ser266Cys) c.733A>T (p.Ser245Cys) c.802A>T (p.Ser268Cys) | |
| 1 | g.6474039T>C | CA338138457 | PLEKHG5 | c.565A>G (p.Ser189Gly) c.739A>G (p.Ser247Gly) c.676A>G (p.Ser226Gly) n.1041A>G c.772A>G (p.Ser258Gly) c.862A>G (p.Ser288Gly) c.*777A>G (n.*777A>G) c.*393A>G (n.*393A>G) c.796A>G (p.Ser266Gly) c.733A>G (p.Ser245Gly) c.802A>G (p.Ser268Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474039T>G | CA338138460 | PLEKHG5 | c.565A>C (p.Ser189Arg) c.739A>C (p.Ser247Arg) c.676A>C (p.Ser226Arg) n.1041A>C c.772A>C (p.Ser258Arg) c.862A>C (p.Ser288Arg) c.*777A>C (n.*777A>C) c.*393A>C (n.*393A>C) c.796A>C (p.Ser266Arg) c.733A>C (p.Ser245Arg) c.802A>C (p.Ser268Arg) | |
| 1 | g.6474039T= | CA1151505732 | PLEKHG5 | c.565A= (p.Ser189=) c.739A= (p.Ser247=) c.676A= (p.Ser226=) n.1041A= c.772A= (p.Ser258=) c.862A= (p.Ser288=) c.*777A= (n.*777A=) c.*393A= (n.*393A=) c.796A= (p.Ser266=) c.733A= (p.Ser245=) c.802A= (p.Ser268=) | |
| 1 | g.6474040C>A | CA338138462 | PLEKHG5 | c.564G>T (p.Gln188His) c.738G>T (p.Gln246His) c.675G>T (p.Gln225His) n.1040G>T c.771G>T (p.Gln257His) c.861G>T (p.Gln287His) c.*776G>T (n.*776G>T) c.*392G>T (n.*392G>T) c.795G>T (p.Gln265His) c.732G>T (p.Gln244His) c.801G>T (p.Gln267His) | |
| 1 | g.6474040C>G | CA338138465 | PLEKHG5 | c.564G>C (p.Gln188His) c.738G>C (p.Gln246His) c.675G>C (p.Gln225His) n.1040G>C c.771G>C (p.Gln257His) c.861G>C (p.Gln287His) c.*776G>C (n.*776G>C) c.*392G>C (n.*392G>C) c.795G>C (p.Gln265His) c.732G>C (p.Gln244His) c.801G>C (p.Gln267His) | |
| 1 | g.6474040C>T | CA415833907 | PLEKHG5 | c.564G>A (p.Gln188=) c.738G>A (p.Gln246=) c.675G>A (p.Gln225=) n.1040G>A c.771G>A (p.Gln257=) c.861G>A (p.Gln287=) c.*776G>A (n.*776G>A) c.*392G>A (n.*392G>A) c.795G>A (p.Gln265=) c.732G>A (p.Gln244=) c.801G>A (p.Gln267=) | |
| 1 | g.6474041T>A | CA338138467 | PLEKHG5 | c.563A>T (p.Gln188Leu) c.737A>T (p.Gln246Leu) c.674A>T (p.Gln225Leu) n.1039A>T c.770A>T (p.Gln257Leu) c.860A>T (p.Gln287Leu) c.*775A>T (n.*775A>T) c.*391A>T (n.*391A>T) c.794A>T (p.Gln265Leu) c.731A>T (p.Gln244Leu) c.800A>T (p.Gln267Leu) | |
| 1 | g.6474041T>C | CA338138470 | PLEKHG5 | c.563A>G (p.Gln188Arg) c.737A>G (p.Gln246Arg) c.674A>G (p.Gln225Arg) n.1039A>G c.770A>G (p.Gln257Arg) c.860A>G (p.Gln287Arg) c.*775A>G (n.*775A>G) c.*391A>G (n.*391A>G) c.794A>G (p.Gln265Arg) c.731A>G (p.Gln244Arg) c.800A>G (p.Gln267Arg) | |
| 1 | g.6474041T>G | CA338138472 | PLEKHG5 | c.563A>C (p.Gln188Pro) c.737A>C (p.Gln246Pro) c.674A>C (p.Gln225Pro) n.1039A>C c.770A>C (p.Gln257Pro) c.860A>C (p.Gln287Pro) c.*775A>C (n.*775A>C) c.*391A>C (n.*391A>C) c.794A>C (p.Gln265Pro) c.731A>C (p.Gln244Pro) c.800A>C (p.Gln267Pro) | |
| 1 | g.6474042G>A | CA338138476 | PLEKHG5 | c.562C>T (p.Gln188Ter) c.736C>T (p.Gln246Ter) c.673C>T (p.Gln225Ter) n.1038C>T c.769C>T (p.Gln257Ter) c.859C>T (p.Gln287Ter) c.*774C>T (n.*774C>T) c.*390C>T (n.*390C>T) c.793C>T (p.Gln265Ter) c.730C>T (p.Gln244Ter) c.799C>T (p.Gln267Ter) | |
| 1 | g.6474042G>C | CA338138478 | PLEKHG5 | c.562C>G (p.Gln188Glu) c.736C>G (p.Gln246Glu) c.673C>G (p.Gln225Glu) n.1038C>G c.769C>G (p.Gln257Glu) c.859C>G (p.Gln287Glu) c.*774C>G (n.*774C>G) c.*390C>G (n.*390C>G) c.793C>G (p.Gln265Glu) c.730C>G (p.Gln244Glu) c.799C>G (p.Gln267Glu) |