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 |
|---|---|---|---|---|---|
| 13 | g.113117505_113117506del | CA2623807945 | F7 | c.648_649del (p.Cys216TrpfsTer?) c.714_715del (p.Cys238TrpfsTer?) c.462_463del (p.Cys154TrpfsTer?) n.735_736del c.507_508del (p.Cys169TrpfsTer?) c.756_757del (p.Cys252TrpfsTer?) c.570_571del (p.Cys190TrpfsTer?) c.408_409del (p.Cys136TrpfsTer?) c.717_718del (p.Cys239TrpfsTer?) c.552_553del (p.Cys184TrpfsTer?) c.801_802del (p.Cys267TrpfsTer?) c.615_616del (p.Cys205TrpfsTer?) n.732_733del | gnomAD v4 |
| 13 | g.113117504G>A | CA256460429 | F7 | c.647G>A (p.Cys216Tyr) c.713G>A (p.Cys238Tyr) c.461G>A (p.Cys154Tyr) n.734G>A c.506G>A (p.Cys169Tyr) c.755G>A (p.Cys252Tyr) c.569G>A (p.Cys190Tyr) c.407G>A (p.Cys136Tyr) c.716G>A (p.Cys239Tyr) c.551G>A (p.Cys184Tyr) c.800G>A (p.Cys267Tyr) c.614G>A (p.Cys205Tyr) n.731G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.113117504G>C | CA7060066 | F7 | c.647G>C (p.Cys216Ser) c.713G>C (p.Cys238Ser) c.461G>C (p.Cys154Ser) n.734G>C c.506G>C (p.Cys169Ser) c.755G>C (p.Cys252Ser) c.569G>C (p.Cys190Ser) c.407G>C (p.Cys136Ser) c.716G>C (p.Cys239Ser) c.551G>C (p.Cys184Ser) c.800G>C (p.Cys267Ser) c.614G>C (p.Cys205Ser) n.731G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113117504G= | CA2120140194 | F7 | c.647G= (p.Cys216=) c.713G= (p.Cys238=) c.461G= (p.Cys154=) n.734G= c.506G= (p.Cys169=) c.755G= (p.Cys252=) c.569G= (p.Cys190=) c.407G= (p.Cys136=) c.716G= (p.Cys239=) c.551G= (p.Cys184=) c.800G= (p.Cys267=) c.614G= (p.Cys205=) n.731G= | |
| 13 | g.113117504G>T | CA388785255 | F7 | c.647G>T (p.Cys216Phe) c.713G>T (p.Cys238Phe) c.461G>T (p.Cys154Phe) n.734G>T c.506G>T (p.Cys169Phe) c.755G>T (p.Cys252Phe) c.569G>T (p.Cys190Phe) c.407G>T (p.Cys136Phe) c.716G>T (p.Cys239Phe) c.551G>T (p.Cys184Phe) c.800G>T (p.Cys267Phe) c.614G>T (p.Cys205Phe) n.731G>T | |
| 13 | g.113117504_113117505insA | CA2564641301 | F7 | c.647_648insA (p.Cys216Ter) c.713_714insA (p.Cys238Ter) c.461_462insA (p.Cys154Ter) n.734_735insA c.506_507insA (p.Cys169Ter) c.755_756insA (p.Cys252Ter) c.569_570insA (p.Cys190Ter) c.407_408insA (p.Cys136Ter) c.716_717insA (p.Cys239Ter) c.551_552insA (p.Cys184Ter) c.800_801insA (p.Cys267Ter) c.614_615insA (p.Cys205Ter) n.731_732insA | |
| 13 | g.113117505T>A | CA388785256 | F7 | c.648T>A (p.Cys216Ter) c.714T>A (p.Cys238Ter) c.462T>A (p.Cys154Ter) n.735T>A c.507T>A (p.Cys169Ter) c.756T>A (p.Cys252Ter) c.570T>A (p.Cys190Ter) c.408T>A (p.Cys136Ter) c.717T>A (p.Cys239Ter) c.552T>A (p.Cys184Ter) c.801T>A (p.Cys267Ter) c.615T>A (p.Cys205Ter) n.732T>A | |
| 13 | g.113117505T>C | CA485020963 | F7 | c.648T>C (p.Cys216=) c.714T>C (p.Cys238=) c.462T>C (p.Cys154=) n.735T>C c.507T>C (p.Cys169=) c.756T>C (p.Cys252=) c.570T>C (p.Cys190=) c.408T>C (p.Cys136=) c.717T>C (p.Cys239=) c.552T>C (p.Cys184=) c.801T>C (p.Cys267=) c.615T>C (p.Cys205=) n.732T>C | |
| 13 | g.113117505T>G | CA388785257 | F7 | c.648T>G (p.Cys216Trp) c.714T>G (p.Cys238Trp) c.462T>G (p.Cys154Trp) n.735T>G c.507T>G (p.Cys169Trp) c.756T>G (p.Cys252Trp) c.570T>G (p.Cys190Trp) c.408T>G (p.Cys136Trp) c.717T>G (p.Cys239Trp) c.552T>G (p.Cys184Trp) c.801T>G (p.Cys267Trp) c.615T>G (p.Cys205Trp) n.732T>G | |
| 13 | g.113117506G>A | CA388785258 | F7 | c.649G>A (p.Gly217Arg) c.715G>A (p.Gly239Arg) c.463G>A (p.Gly155Arg) n.736G>A c.508G>A (p.Gly170Arg) c.757G>A (p.Gly253Arg) c.571G>A (p.Gly191Arg) c.409G>A (p.Gly137Arg) c.718G>A (p.Gly240Arg) c.553G>A (p.Gly185Arg) c.802G>A (p.Gly268Arg) c.616G>A (p.Gly206Arg) n.733G>A | |
| 13 | g.113117506G>C | CA388785260 | F7 | c.649G>C (p.Gly217Arg) c.715G>C (p.Gly239Arg) c.463G>C (p.Gly155Arg) n.736G>C c.508G>C (p.Gly170Arg) c.757G>C (p.Gly253Arg) c.571G>C (p.Gly191Arg) c.409G>C (p.Gly137Arg) c.718G>C (p.Gly240Arg) c.553G>C (p.Gly185Arg) c.802G>C (p.Gly268Arg) c.616G>C (p.Gly206Arg) n.733G>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.113117506G>T | CA388785259 | F7 | c.649G>T (p.Gly217Trp) c.715G>T (p.Gly239Trp) c.463G>T (p.Gly155Trp) n.736G>T c.508G>T (p.Gly170Trp) c.757G>T (p.Gly253Trp) c.571G>T (p.Gly191Trp) c.409G>T (p.Gly137Trp) c.718G>T (p.Gly240Trp) c.553G>T (p.Gly185Trp) c.802G>T (p.Gly268Trp) c.616G>T (p.Gly206Trp) n.733G>T | |
| 13 | g.113117511dup | CA485020964 | F7 | c.654dup (p.Thr219AspfsTer?) c.720dup (p.Thr241AspfsTer?) c.468dup (p.Thr157AspfsTer?) n.741dup c.513dup (p.Thr172AspfsTer?) c.762dup (p.Thr255AspfsTer?) c.576dup (p.Thr193AspfsTer?) c.414dup (p.Thr139AspfsTer?) c.723dup (p.Thr242AspfsTer?) c.558dup (p.Thr187AspfsTer?) c.807dup (p.Thr270AspfsTer?) c.621dup (p.Thr208AspfsTer?) n.738dup | COSMIC |
| 13 | g.113117507G>A | CA388785261 | F7 | c.650G>A (p.Gly217Glu) c.716G>A (p.Gly239Glu) c.464G>A (p.Gly155Glu) n.737G>A c.509G>A (p.Gly170Glu) c.758G>A (p.Gly253Glu) c.572G>A (p.Gly191Glu) c.410G>A (p.Gly137Glu) c.719G>A (p.Gly240Glu) c.554G>A (p.Gly185Glu) c.803G>A (p.Gly268Glu) c.617G>A (p.Gly206Glu) n.734G>A | |
| 13 | g.113117507G>C | CA256460434 | F7 | c.650G>C (p.Gly217Ala) c.716G>C (p.Gly239Ala) c.464G>C (p.Gly155Ala) n.737G>C c.509G>C (p.Gly170Ala) c.758G>C (p.Gly253Ala) c.572G>C (p.Gly191Ala) c.410G>C (p.Gly137Ala) c.719G>C (p.Gly240Ala) c.554G>C (p.Gly185Ala) c.803G>C (p.Gly268Ala) c.617G>C (p.Gly206Ala) n.734G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113117507G= | CA2120140197 | F7 | c.650G= (p.Gly217=) c.716G= (p.Gly239=) c.464G= (p.Gly155=) n.737G= c.509G= (p.Gly170=) c.758G= (p.Gly253=) c.572G= (p.Gly191=) c.410G= (p.Gly137=) c.719G= (p.Gly240=) c.554G= (p.Gly185=) c.803G= (p.Gly268=) c.617G= (p.Gly206=) n.734G= | |
| 13 | g.113117507G>T | CA388785262 | F7 | c.650G>T (p.Gly217Val) c.716G>T (p.Gly239Val) c.464G>T (p.Gly155Val) n.737G>T c.509G>T (p.Gly170Val) c.758G>T (p.Gly253Val) c.572G>T (p.Gly191Val) c.410G>T (p.Gly137Val) c.719G>T (p.Gly240Val) c.554G>T (p.Gly185Val) c.803G>T (p.Gly268Val) c.617G>T (p.Gly206Val) n.734G>T | |
| 13 | g.113117508G>A | CA485020965 | F7 | c.651G>A (p.Gly217=) c.717G>A (p.Gly239=) c.465G>A (p.Gly155=) n.738G>A c.510G>A (p.Gly170=) c.759G>A (p.Gly253=) c.573G>A (p.Gly191=) c.411G>A (p.Gly137=) c.720G>A (p.Gly240=) c.555G>A (p.Gly185=) c.804G>A (p.Gly268=) c.618G>A (p.Gly206=) n.735G>A | |
| 13 | g.113117508G>C | CA485020966 | F7 | c.651G>C (p.Gly217=) c.717G>C (p.Gly239=) c.465G>C (p.Gly155=) n.738G>C c.510G>C (p.Gly170=) c.759G>C (p.Gly253=) c.573G>C (p.Gly191=) c.411G>C (p.Gly137=) c.720G>C (p.Gly240=) c.555G>C (p.Gly185=) c.804G>C (p.Gly268=) c.618G>C (p.Gly206=) n.735G>C | |
| 13 | g.113117508G>T | CA485020967 | F7 | c.651G>T (p.Gly217=) c.717G>T (p.Gly239=) c.465G>T (p.Gly155=) n.738G>T c.510G>T (p.Gly170=) c.759G>T (p.Gly253=) c.573G>T (p.Gly191=) c.411G>T (p.Gly137=) c.720G>T (p.Gly240=) c.555G>T (p.Gly185=) c.804G>T (p.Gly268=) c.618G>T (p.Gly206=) n.735G>T | |
| 13 | g.113117509G>A | CA388785263 | F7 | c.652G>A (p.Gly218Arg) c.718G>A (p.Gly240Arg) c.466G>A (p.Gly156Arg) n.739G>A c.511G>A (p.Gly171Arg) c.760G>A (p.Gly254Arg) c.574G>A (p.Gly192Arg) c.412G>A (p.Gly138Arg) c.721G>A (p.Gly241Arg) c.556G>A (p.Gly186Arg) c.805G>A (p.Gly269Arg) c.619G>A (p.Gly207Arg) n.736G>A | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.113117509G>C | CA388785264 | F7 | c.652G>C (p.Gly218Arg) c.718G>C (p.Gly240Arg) c.466G>C (p.Gly156Arg) n.739G>C c.511G>C (p.Gly171Arg) c.760G>C (p.Gly254Arg) c.574G>C (p.Gly192Arg) c.412G>C (p.Gly138Arg) c.721G>C (p.Gly241Arg) c.556G>C (p.Gly186Arg) c.805G>C (p.Gly269Arg) c.619G>C (p.Gly207Arg) n.736G>C | |
| 13 | g.113117509G= | CA2120140200 | F7 | c.652G= (p.Gly218=) c.718G= (p.Gly240=) c.466G= (p.Gly156=) n.739G= c.511G= (p.Gly171=) c.760G= (p.Gly254=) c.574G= (p.Gly192=) c.412G= (p.Gly138=) c.721G= (p.Gly241=) c.556G= (p.Gly186=) c.805G= (p.Gly269=) c.619G= (p.Gly207=) n.736G= | |
| 13 | g.113117509G>T | CA388785265 | F7 | c.652G>T (p.Gly218Trp) c.718G>T (p.Gly240Trp) c.466G>T (p.Gly156Trp) n.739G>T c.511G>T (p.Gly171Trp) c.760G>T (p.Gly254Trp) c.574G>T (p.Gly192Trp) c.412G>T (p.Gly138Trp) c.721G>T (p.Gly241Trp) c.556G>T (p.Gly186Trp) c.805G>T (p.Gly269Trp) c.619G>T (p.Gly207Trp) n.736G>T | dbSNP COSMIC COSMIC |
| 13 | g.113117510G>A | CA388785266 | F7 | c.653G>A (p.Gly218Glu) c.719G>A (p.Gly240Glu) c.467G>A (p.Gly156Glu) n.740G>A c.512G>A (p.Gly171Glu) c.761G>A (p.Gly254Glu) c.575G>A (p.Gly192Glu) c.413G>A (p.Gly138Glu) c.722G>A (p.Gly241Glu) c.557G>A (p.Gly186Glu) c.806G>A (p.Gly269Glu) c.620G>A (p.Gly207Glu) n.737G>A | dbSNP COSMIC COSMIC |
| 13 | g.113117510G>C | CA388785267 | F7 | c.653G>C (p.Gly218Ala) c.719G>C (p.Gly240Ala) c.467G>C (p.Gly156Ala) n.740G>C c.512G>C (p.Gly171Ala) c.761G>C (p.Gly254Ala) c.575G>C (p.Gly192Ala) c.413G>C (p.Gly138Ala) c.722G>C (p.Gly241Ala) c.557G>C (p.Gly186Ala) c.806G>C (p.Gly269Ala) c.620G>C (p.Gly207Ala) n.737G>C | |
| 13 | g.113117510G= | CA2120140203 | F7 | c.653G= (p.Gly218=) c.719G= (p.Gly240=) c.467G= (p.Gly156=) n.740G= c.512G= (p.Gly171=) c.761G= (p.Gly254=) c.575G= (p.Gly192=) c.413G= (p.Gly138=) c.722G= (p.Gly241=) c.557G= (p.Gly186=) c.806G= (p.Gly269=) c.620G= (p.Gly207=) n.737G= | |
| 13 | g.113117510G>T | CA388785268 | F7 | c.653G>T (p.Gly218Val) c.719G>T (p.Gly240Val) c.467G>T (p.Gly156Val) n.740G>T c.512G>T (p.Gly171Val) c.761G>T (p.Gly254Val) c.575G>T (p.Gly192Val) c.413G>T (p.Gly138Val) c.722G>T (p.Gly241Val) c.557G>T (p.Gly186Val) c.806G>T (p.Gly269Val) c.620G>T (p.Gly207Val) n.737G>T | |
| 13 | g.113117511G>A | CA485020968 | F7 | c.654G>A (p.Gly218=) c.720G>A (p.Gly240=) c.468G>A (p.Gly156=) n.741G>A c.513G>A (p.Gly171=) c.762G>A (p.Gly254=) c.576G>A (p.Gly192=) c.414G>A (p.Gly138=) c.723G>A (p.Gly241=) c.558G>A (p.Gly186=) c.807G>A (p.Gly269=) c.621G>A (p.Gly207=) n.738G>A | |
| 13 | g.113117511G>C | CA485020969 | F7 | c.654G>C (p.Gly218=) c.720G>C (p.Gly240=) c.468G>C (p.Gly156=) n.741G>C c.513G>C (p.Gly171=) c.762G>C (p.Gly254=) c.576G>C (p.Gly192=) c.414G>C (p.Gly138=) c.723G>C (p.Gly241=) c.558G>C (p.Gly186=) c.807G>C (p.Gly269=) c.621G>C (p.Gly207=) n.738G>C | dbSNP |
| 13 | g.113117511G= | CA2120140206 | F7 | c.654G= (p.Gly218=) c.720G= (p.Gly240=) c.468G= (p.Gly156=) n.741G= c.513G= (p.Gly171=) c.762G= (p.Gly254=) c.576G= (p.Gly192=) c.414G= (p.Gly138=) c.723G= (p.Gly241=) c.558G= (p.Gly186=) c.807G= (p.Gly269=) c.621G= (p.Gly207=) n.738G= | |
| 13 | g.113117511G>T | CA485020970 | F7 | c.654G>T (p.Gly218=) c.720G>T (p.Gly240=) c.468G>T (p.Gly156=) n.741G>T c.513G>T (p.Gly171=) c.762G>T (p.Gly254=) c.576G>T (p.Gly192=) c.414G>T (p.Gly138=) c.723G>T (p.Gly241=) c.558G>T (p.Gly186=) c.807G>T (p.Gly269=) c.621G>T (p.Gly207=) n.738G>T | |
| 13 | g.113117512A>C | CA388785269 | F7 | c.655A>C (p.Thr219Pro) c.721A>C (p.Thr241Pro) c.469A>C (p.Thr157Pro) n.742A>C c.514A>C (p.Thr172Pro) c.763A>C (p.Thr255Pro) c.577A>C (p.Thr193Pro) c.415A>C (p.Thr139Pro) c.724A>C (p.Thr242Pro) c.559A>C (p.Thr187Pro) c.808A>C (p.Thr270Pro) c.622A>C (p.Thr208Pro) n.739A>C | |
| 13 | g.113117512A>G | CA388785270 | F7 | c.655A>G (p.Thr219Ala) c.721A>G (p.Thr241Ala) c.469A>G (p.Thr157Ala) n.742A>G c.514A>G (p.Thr172Ala) c.763A>G (p.Thr255Ala) c.577A>G (p.Thr193Ala) c.415A>G (p.Thr139Ala) c.724A>G (p.Thr242Ala) c.559A>G (p.Thr187Ala) c.808A>G (p.Thr270Ala) c.622A>G (p.Thr208Ala) n.739A>G | |
| 13 | g.113117512A>T | CA388785271 | F7 | c.655A>T (p.Thr219Ser) c.721A>T (p.Thr241Ser) c.469A>T (p.Thr157Ser) n.742A>T c.514A>T (p.Thr172Ser) c.763A>T (p.Thr255Ser) c.577A>T (p.Thr193Ser) c.415A>T (p.Thr139Ser) c.724A>T (p.Thr242Ser) c.559A>T (p.Thr187Ser) c.808A>T (p.Thr270Ser) c.622A>T (p.Thr208Ser) n.739A>T | |
| 13 | g.113117513C>A | CA388785274 | F7 | c.656C>A (p.Thr219Asn) c.722C>A (p.Thr241Asn) c.470C>A (p.Thr157Asn) n.743C>A c.515C>A (p.Thr172Asn) c.764C>A (p.Thr255Asn) c.578C>A (p.Thr193Asn) c.416C>A (p.Thr139Asn) c.725C>A (p.Thr242Asn) c.560C>A (p.Thr187Asn) c.809C>A (p.Thr270Asn) c.623C>A (p.Thr208Asn) n.740C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113117513C= | CA2120140209 | F7 | c.656C= (p.Thr219=) c.722C= (p.Thr241=) c.470C= (p.Thr157=) n.743C= c.515C= (p.Thr172=) c.764C= (p.Thr255=) c.578C= (p.Thr193=) c.416C= (p.Thr139=) c.725C= (p.Thr242=) c.560C= (p.Thr187=) c.809C= (p.Thr270=) c.623C= (p.Thr208=) n.740C= | |
| 13 | g.113117513C>G | CA388785272 | F7 | c.656C>G (p.Thr219Ser) c.722C>G (p.Thr241Ser) c.470C>G (p.Thr157Ser) n.743C>G c.515C>G (p.Thr172Ser) c.764C>G (p.Thr255Ser) c.578C>G (p.Thr193Ser) c.416C>G (p.Thr139Ser) c.725C>G (p.Thr242Ser) c.560C>G (p.Thr187Ser) c.809C>G (p.Thr270Ser) c.623C>G (p.Thr208Ser) n.740C>G | gnomAD v4 |
| 13 | g.113117513C>T | CA388785273 | F7 | c.656C>T (p.Thr219Ile) c.722C>T (p.Thr241Ile) c.470C>T (p.Thr157Ile) n.743C>T c.515C>T (p.Thr172Ile) c.764C>T (p.Thr255Ile) c.578C>T (p.Thr193Ile) c.416C>T (p.Thr139Ile) c.725C>T (p.Thr242Ile) c.560C>T (p.Thr187Ile) c.809C>T (p.Thr270Ile) c.623C>T (p.Thr208Ile) n.740C>T | gnomAD v4 |
| 13 | g.113117514C>A | CA485020971 | F7 | c.657C>A (p.Thr219=) c.723C>A (p.Thr241=) c.471C>A (p.Thr157=) n.744C>A c.516C>A (p.Thr172=) c.765C>A (p.Thr255=) c.579C>A (p.Thr193=) c.417C>A (p.Thr139=) c.726C>A (p.Thr242=) c.561C>A (p.Thr187=) c.810C>A (p.Thr270=) c.624C>A (p.Thr208=) n.741C>A | |
| 13 | g.113117514C= | CA2120140213 | F7 | c.657C= (p.Thr219=) c.723C= (p.Thr241=) c.471C= (p.Thr157=) n.744C= c.516C= (p.Thr172=) c.765C= (p.Thr255=) c.579C= (p.Thr193=) c.417C= (p.Thr139=) c.726C= (p.Thr242=) c.561C= (p.Thr187=) c.810C= (p.Thr270=) c.624C= (p.Thr208=) n.741C= | |
| 13 | g.113117514C>G | CA485020972 | F7 | c.657C>G (p.Thr219=) c.723C>G (p.Thr241=) c.471C>G (p.Thr157=) n.744C>G c.516C>G (p.Thr172=) c.765C>G (p.Thr255=) c.579C>G (p.Thr193=) c.417C>G (p.Thr139=) c.726C>G (p.Thr242=) c.561C>G (p.Thr187=) c.810C>G (p.Thr270=) c.624C>G (p.Thr208=) n.741C>G | |
| 13 | g.113117514C>T | CA485020973 | F7 | c.657C>T (p.Thr219=) c.723C>T (p.Thr241=) c.471C>T (p.Thr157=) n.744C>T c.516C>T (p.Thr172=) c.765C>T (p.Thr255=) c.579C>T (p.Thr193=) c.417C>T (p.Thr139=) c.726C>T (p.Thr242=) c.561C>T (p.Thr187=) c.810C>T (p.Thr270=) c.624C>T (p.Thr208=) n.741C>T | dbSNP |
| 13 | g.113117514_113117515insA | CA2518818636 | F7 | c.657_658insA (p.Leu220ThrfsTer?) c.723_724insA (p.Leu242ThrfsTer?) c.471_472insA (p.Leu158ThrfsTer?) n.744_745insA c.516_517insA (p.Leu173ThrfsTer?) c.765_766insA (p.Leu256ThrfsTer?) c.579_580insA (p.Leu194ThrfsTer?) c.417_418insA (p.Leu140ThrfsTer?) c.726_727insA (p.Leu243ThrfsTer?) c.561_562insA (p.Leu188ThrfsTer?) c.810_811insA (p.Leu271ThrfsTer?) c.624_625insA (p.Leu209ThrfsTer?) n.741_742insA | |
| 13 | g.113117515C>A | CA388785275 | F7 | c.658C>A (p.Leu220Met) c.724C>A (p.Leu242Met) c.472C>A (p.Leu158Met) n.745C>A c.517C>A (p.Leu173Met) c.766C>A (p.Leu256Met) c.580C>A (p.Leu194Met) c.418C>A (p.Leu140Met) c.727C>A (p.Leu243Met) c.562C>A (p.Leu188Met) c.811C>A (p.Leu271Met) c.625C>A (p.Leu209Met) n.742C>A | |
| 13 | g.113117515C>G | CA388785276 | F7 | c.658C>G (p.Leu220Val) c.724C>G (p.Leu242Val) c.472C>G (p.Leu158Val) n.745C>G c.517C>G (p.Leu173Val) c.766C>G (p.Leu256Val) c.580C>G (p.Leu194Val) c.418C>G (p.Leu140Val) c.727C>G (p.Leu243Val) c.562C>G (p.Leu188Val) c.811C>G (p.Leu271Val) c.625C>G (p.Leu209Val) n.742C>G | |
| 13 | g.113117515C>T | CA485020974 | F7 | c.658C>T (p.Leu220=) c.724C>T (p.Leu242=) c.472C>T (p.Leu158=) n.745C>T c.517C>T (p.Leu173=) c.766C>T (p.Leu256=) c.580C>T (p.Leu194=) c.418C>T (p.Leu140=) c.727C>T (p.Leu243=) c.562C>T (p.Leu188=) c.811C>T (p.Leu271=) c.625C>T (p.Leu209=) n.742C>T | gnomAD v4 |
| 13 | g.113117515_113117516insCG | CA2550805346 | F7 | c.658_659insCG (p.Leu220ProfsTer2) c.724_725insCG (p.Leu242ProfsTer2) c.472_473insCG (p.Leu158ProfsTer2) n.745_746insCG c.517_518insCG (p.Leu173ProfsTer2) c.766_767insCG (p.Leu256ProfsTer2) c.580_581insCG (p.Leu194ProfsTer2) c.418_419insCG (p.Leu140ProfsTer2) c.727_728insCG (p.Leu243ProfsTer2) c.562_563insCG (p.Leu188ProfsTer2) c.811_812insCG (p.Leu271ProfsTer2) c.625_626insCG (p.Leu209ProfsTer2) n.742_743insCG | |
| 13 | g.113117516T>A | CA388785277 | F7 | c.659T>A (p.Leu220Gln) c.725T>A (p.Leu242Gln) c.473T>A (p.Leu158Gln) n.746T>A c.518T>A (p.Leu173Gln) c.767T>A (p.Leu256Gln) c.581T>A (p.Leu194Gln) c.419T>A (p.Leu140Gln) c.728T>A (p.Leu243Gln) c.563T>A (p.Leu188Gln) c.812T>A (p.Leu271Gln) c.626T>A (p.Leu209Gln) n.743T>A | |
| 13 | g.113117516T>C | CA388785278 | F7 | c.659T>C (p.Leu220Pro) c.725T>C (p.Leu242Pro) c.473T>C (p.Leu158Pro) n.746T>C c.518T>C (p.Leu173Pro) c.767T>C (p.Leu256Pro) c.581T>C (p.Leu194Pro) c.419T>C (p.Leu140Pro) c.728T>C (p.Leu243Pro) c.563T>C (p.Leu188Pro) c.812T>C (p.Leu271Pro) c.626T>C (p.Leu209Pro) n.743T>C |