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 |
|---|---|---|---|---|---|
| 13 | g.113118527G>A | CA7060168 | F7 | c.854G>A (p.Arg285His) c.920G>A (p.Arg307His) c.668G>A (p.Arg223His) n.941G>A c.713G>A (p.Arg238His) c.962G>A (p.Arg321His) c.776G>A (p.Arg259His) c.614G>A (p.Arg205His) c.923G>A (p.Arg308His) c.758G>A (p.Arg253His) c.1007G>A (p.Arg336His) c.821G>A (p.Arg274His) n.938G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113118527G>C | CA388785990 | F7 | c.854G>C (p.Arg285Pro) c.920G>C (p.Arg307Pro) c.668G>C (p.Arg223Pro) n.941G>C c.713G>C (p.Arg238Pro) c.962G>C (p.Arg321Pro) c.776G>C (p.Arg259Pro) c.614G>C (p.Arg205Pro) c.923G>C (p.Arg308Pro) c.758G>C (p.Arg253Pro) c.1007G>C (p.Arg336Pro) c.821G>C (p.Arg274Pro) n.938G>C | |
| 13 | g.113118527G= | CA2120142011 | F7 | c.854G= (p.Arg285=) c.920G= (p.Arg307=) c.668G= (p.Arg223=) n.941G= c.713G= (p.Arg238=) c.962G= (p.Arg321=) c.776G= (p.Arg259=) c.614G= (p.Arg205=) c.923G= (p.Arg308=) c.758G= (p.Arg253=) c.1007G= (p.Arg336=) c.821G= (p.Arg274=) n.938G= | |
| 13 | g.113118527G>T | CA388785989 | F7 | c.854G>T (p.Arg285Leu) c.920G>T (p.Arg307Leu) c.668G>T (p.Arg223Leu) n.941G>T c.713G>T (p.Arg238Leu) c.962G>T (p.Arg321Leu) c.776G>T (p.Arg259Leu) c.614G>T (p.Arg205Leu) c.923G>T (p.Arg308Leu) c.758G>T (p.Arg253Leu) c.1007G>T (p.Arg336Leu) c.821G>T (p.Arg274Leu) n.938G>T | gnomAD v4 |
| 13 | g.113118528C>A | CA485423882 | F7 | c.855C>A (p.Arg285=) c.921C>A (p.Arg307=) c.669C>A (p.Arg223=) n.942C>A c.714C>A (p.Arg238=) c.963C>A (p.Arg321=) c.777C>A (p.Arg259=) c.615C>A (p.Arg205=) c.924C>A (p.Arg308=) c.759C>A (p.Arg253=) c.1008C>A (p.Arg336=) c.822C>A (p.Arg274=) n.939C>A | |
| 13 | g.113118528C>G | CA485423881 | F7 | c.855C>G (p.Arg285=) c.921C>G (p.Arg307=) c.669C>G (p.Arg223=) n.942C>G c.714C>G (p.Arg238=) c.963C>G (p.Arg321=) c.777C>G (p.Arg259=) c.615C>G (p.Arg205=) c.924C>G (p.Arg308=) c.759C>G (p.Arg253=) c.1008C>G (p.Arg336=) c.822C>G (p.Arg274=) n.939C>G | |
| 13 | g.113118528C>T | CA485423880 | F7 | c.855C>T (p.Arg285=) c.921C>T (p.Arg307=) c.669C>T (p.Arg223=) n.942C>T c.714C>T (p.Arg238=) c.963C>T (p.Arg321=) c.777C>T (p.Arg259=) c.615C>T (p.Arg205=) c.924C>T (p.Arg308=) c.759C>T (p.Arg253=) c.1008C>T (p.Arg336=) c.822C>T (p.Arg274=) n.939C>T | |
| 13 | g.113118529C>A | CA388785991 | F7 | c.856C>A (p.Leu286Met) c.922C>A (p.Leu308Met) c.670C>A (p.Leu224Met) n.943C>A c.715C>A (p.Leu239Met) c.964C>A (p.Leu322Met) c.778C>A (p.Leu260Met) c.616C>A (p.Leu206Met) c.925C>A (p.Leu309Met) c.760C>A (p.Leu254Met) c.1009C>A (p.Leu337Met) c.823C>A (p.Leu275Met) n.940C>A | |
| 13 | g.113118529C= | CA2120142016 | F7 | c.856C= (p.Leu286=) c.922C= (p.Leu308=) c.670C= (p.Leu224=) n.943C= c.715C= (p.Leu239=) c.964C= (p.Leu322=) c.778C= (p.Leu260=) c.616C= (p.Leu206=) c.925C= (p.Leu309=) c.760C= (p.Leu254=) c.1009C= (p.Leu337=) c.823C= (p.Leu275=) n.940C= | |
| 13 | g.113118529C>G | CA388785992 | F7 | c.856C>G (p.Leu286Val) c.922C>G (p.Leu308Val) c.670C>G (p.Leu224Val) n.943C>G c.715C>G (p.Leu239Val) c.964C>G (p.Leu322Val) c.778C>G (p.Leu260Val) c.616C>G (p.Leu206Val) c.925C>G (p.Leu309Val) c.760C>G (p.Leu254Val) c.1009C>G (p.Leu337Val) c.823C>G (p.Leu275Val) n.940C>G | |
| 13 | g.113118529C>T | CA485423883 | F7 | c.856C>T (p.Leu286=) c.922C>T (p.Leu308=) c.670C>T (p.Leu224=) n.943C>T c.715C>T (p.Leu239=) c.964C>T (p.Leu322=) c.778C>T (p.Leu260=) c.616C>T (p.Leu206=) c.925C>T (p.Leu309=) c.760C>T (p.Leu254=) c.1009C>T (p.Leu337=) c.823C>T (p.Leu275=) n.940C>T | dbSNP |
| 13 | g.113118530T>A | CA388785993 | F7 | c.857T>A (p.Leu286Gln) c.923T>A (p.Leu308Gln) c.671T>A (p.Leu224Gln) n.944T>A c.716T>A (p.Leu239Gln) c.965T>A (p.Leu322Gln) c.779T>A (p.Leu260Gln) c.617T>A (p.Leu206Gln) c.926T>A (p.Leu309Gln) c.761T>A (p.Leu254Gln) c.1010T>A (p.Leu337Gln) c.824T>A (p.Leu275Gln) n.941T>A | gnomAD v4 |
| 13 | g.113118530T>C | CA388785994 | F7 | c.857T>C (p.Leu286Pro) c.923T>C (p.Leu308Pro) c.671T>C (p.Leu224Pro) n.944T>C c.716T>C (p.Leu239Pro) c.965T>C (p.Leu322Pro) c.779T>C (p.Leu260Pro) c.617T>C (p.Leu206Pro) c.926T>C (p.Leu309Pro) c.761T>C (p.Leu254Pro) c.1010T>C (p.Leu337Pro) c.824T>C (p.Leu275Pro) n.941T>C | ClinVar dbSNP |
| 13 | g.113118530T>G | CA388785995 | F7 | c.857T>G (p.Leu286Arg) c.923T>G (p.Leu308Arg) c.671T>G (p.Leu224Arg) n.944T>G c.716T>G (p.Leu239Arg) c.965T>G (p.Leu322Arg) c.779T>G (p.Leu260Arg) c.617T>G (p.Leu206Arg) c.926T>G (p.Leu309Arg) c.761T>G (p.Leu254Arg) c.1010T>G (p.Leu337Arg) c.824T>G (p.Leu275Arg) n.941T>G | |
| 13 | g.113118531G>A | CA485423886 | F7 | c.858G>A (p.Leu286=) c.924G>A (p.Leu308=) c.672G>A (p.Leu224=) n.945G>A c.717G>A (p.Leu239=) c.966G>A (p.Leu322=) c.780G>A (p.Leu260=) c.618G>A (p.Leu206=) c.927G>A (p.Leu309=) c.762G>A (p.Leu254=) c.1011G>A (p.Leu337=) c.825G>A (p.Leu275=) n.942G>A | dbSNP gnomAD v4 |
| 13 | g.113118531G>C | CA485423885 | F7 | c.858G>C (p.Leu286=) c.924G>C (p.Leu308=) c.672G>C (p.Leu224=) n.945G>C c.717G>C (p.Leu239=) c.966G>C (p.Leu322=) c.780G>C (p.Leu260=) c.618G>C (p.Leu206=) c.927G>C (p.Leu309=) c.762G>C (p.Leu254=) c.1011G>C (p.Leu337=) c.825G>C (p.Leu275=) n.942G>C | |
| 13 | g.113118531G= | CA2120142018 | F7 | c.858G= (p.Leu286=) c.924G= (p.Leu308=) c.672G= (p.Leu224=) n.945G= c.717G= (p.Leu239=) c.966G= (p.Leu322=) c.780G= (p.Leu260=) c.618G= (p.Leu206=) c.927G= (p.Leu309=) c.762G= (p.Leu254=) c.1011G= (p.Leu337=) c.825G= (p.Leu275=) n.942G= | |
| 13 | g.113118531G>T | CA485423884 | F7 | c.858G>T (p.Leu286=) c.924G>T (p.Leu308=) c.672G>T (p.Leu224=) n.945G>T c.717G>T (p.Leu239=) c.966G>T (p.Leu322=) c.780G>T (p.Leu260=) c.618G>T (p.Leu206=) c.927G>T (p.Leu309=) c.762G>T (p.Leu254=) c.1011G>T (p.Leu337=) c.825G>T (p.Leu275=) n.942G>T | |
| 13 | g.113118532C>A | CA388785996 | F7 | c.859C>A (p.His287Asn) c.925C>A (p.His309Asn) c.673C>A (p.His225Asn) n.946C>A c.718C>A (p.His240Asn) c.967C>A (p.His323Asn) c.781C>A (p.His261Asn) c.619C>A (p.His207Asn) c.928C>A (p.His310Asn) c.763C>A (p.His255Asn) c.1012C>A (p.His338Asn) c.826C>A (p.His276Asn) n.943C>A | |
| 13 | g.113118532C= | CA2120142021 | F7 | c.859C= (p.His287=) c.925C= (p.His309=) c.673C= (p.His225=) n.946C= c.718C= (p.His240=) c.967C= (p.His323=) c.781C= (p.His261=) c.619C= (p.His207=) c.928C= (p.His310=) c.763C= (p.His255=) c.1012C= (p.His338=) c.826C= (p.His276=) n.943C= | |
| 13 | g.113118532C>G | CA388785997 | F7 | c.859C>G (p.His287Asp) c.925C>G (p.His309Asp) c.673C>G (p.His225Asp) n.946C>G c.718C>G (p.His240Asp) c.967C>G (p.His323Asp) c.781C>G (p.His261Asp) c.619C>G (p.His207Asp) c.928C>G (p.His310Asp) c.763C>G (p.His255Asp) c.1012C>G (p.His338Asp) c.826C>G (p.His276Asp) n.943C>G | |
| 13 | g.113118532C>T | CA388785998 | F7 | c.859C>T (p.His287Tyr) c.925C>T (p.His309Tyr) c.673C>T (p.His225Tyr) n.946C>T c.718C>T (p.His240Tyr) c.967C>T (p.His323Tyr) c.781C>T (p.His261Tyr) c.619C>T (p.His207Tyr) c.928C>T (p.His310Tyr) c.763C>T (p.His255Tyr) c.1012C>T (p.His338Tyr) c.826C>T (p.His276Tyr) n.943C>T | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.113118533A= | CA2120142024 | F7 | c.860A= (p.His287=) c.926A= (p.His309=) c.674A= (p.His225=) n.947A= c.719A= (p.His240=) c.968A= (p.His323=) c.782A= (p.His261=) c.620A= (p.His207=) c.929A= (p.His310=) c.764A= (p.His255=) c.1013A= (p.His338=) c.827A= (p.His276=) n.944A= | |
| 13 | g.113118533A>C | CA388785999 | F7 | c.860A>C (p.His287Pro) c.926A>C (p.His309Pro) c.674A>C (p.His225Pro) n.947A>C c.719A>C (p.His240Pro) c.968A>C (p.His323Pro) c.782A>C (p.His261Pro) c.620A>C (p.His207Pro) c.929A>C (p.His310Pro) c.764A>C (p.His255Pro) c.1013A>C (p.His338Pro) c.827A>C (p.His276Pro) n.944A>C | dbSNP gnomAD v2 |
| 13 | g.113118533A>G | CA388786000 | F7 | c.860A>G (p.His287Arg) c.926A>G (p.His309Arg) c.674A>G (p.His225Arg) n.947A>G c.719A>G (p.His240Arg) c.968A>G (p.His323Arg) c.782A>G (p.His261Arg) c.620A>G (p.His207Arg) c.929A>G (p.His310Arg) c.764A>G (p.His255Arg) c.1013A>G (p.His338Arg) c.827A>G (p.His276Arg) n.944A>G | |
| 13 | g.113118533A>T | CA388786001 | F7 | c.860A>T (p.His287Leu) c.926A>T (p.His309Leu) c.674A>T (p.His225Leu) n.947A>T c.719A>T (p.His240Leu) c.968A>T (p.His323Leu) c.782A>T (p.His261Leu) c.620A>T (p.His207Leu) c.929A>T (p.His310Leu) c.764A>T (p.His255Leu) c.1013A>T (p.His338Leu) c.827A>T (p.His276Leu) n.944A>T | |
| 13 | g.113118537_113118557del | CA2623808955 | F7 | c.864_884del (p.Gln288_Asp294del) c.930_950del (p.Gln310_Asp316del) c.678_698del (p.Gln226_Asp232del) n.951_971del c.723_743del (p.Gln241_Asp247del) c.972_992del (p.Gln324_Asp330del) c.786_806del (p.Gln262_Asp268del) c.624_644del (p.Gln208_Asp214del) c.933_953del (p.Gln311_Asp317del) c.768_788del (p.Gln256_Asp262del) c.1017_1037del (p.Gln339_Asp345del) c.831_851del (p.Gln277_Asp283del) n.948_968del | gnomAD v4 |
| 13 | g.113118534C>A | CA388786002 | F7 | c.861C>A (p.His287Gln) c.927C>A (p.His309Gln) c.675C>A (p.His225Gln) n.948C>A c.720C>A (p.His240Gln) c.969C>A (p.His323Gln) c.783C>A (p.His261Gln) c.621C>A (p.His207Gln) c.930C>A (p.His310Gln) c.765C>A (p.His255Gln) c.1014C>A (p.His338Gln) c.828C>A (p.His276Gln) n.945C>A | |
| 13 | g.113118534C>G | CA388786003 | F7 | c.861C>G (p.His287Gln) c.927C>G (p.His309Gln) c.675C>G (p.His225Gln) n.948C>G c.720C>G (p.His240Gln) c.969C>G (p.His323Gln) c.783C>G (p.His261Gln) c.621C>G (p.His207Gln) c.930C>G (p.His310Gln) c.765C>G (p.His255Gln) c.1014C>G (p.His338Gln) c.828C>G (p.His276Gln) n.945C>G | |
| 13 | g.113118534C>T | CA485423887 | F7 | c.861C>T (p.His287=) c.927C>T (p.His309=) c.675C>T (p.His225=) n.948C>T c.720C>T (p.His240=) c.969C>T (p.His323=) c.783C>T (p.His261=) c.621C>T (p.His207=) c.930C>T (p.His310=) c.765C>T (p.His255=) c.1014C>T (p.His338=) c.828C>T (p.His276=) n.945C>T | gnomAD v4 |
| 13 | g.113118535C>A | CA388786004 | F7 | c.862C>A (p.Gln288Lys) c.928C>A (p.Gln310Lys) c.676C>A (p.Gln226Lys) n.949C>A c.721C>A (p.Gln241Lys) c.970C>A (p.Gln324Lys) c.784C>A (p.Gln262Lys) c.622C>A (p.Gln208Lys) c.931C>A (p.Gln311Lys) c.766C>A (p.Gln256Lys) c.1015C>A (p.Gln339Lys) c.829C>A (p.Gln277Lys) n.946C>A | |
| 13 | g.113118535C= | CA2120142027 | F7 | c.862C= (p.Gln288=) c.928C= (p.Gln310=) c.676C= (p.Gln226=) n.949C= c.721C= (p.Gln241=) c.970C= (p.Gln324=) c.784C= (p.Gln262=) c.622C= (p.Gln208=) c.931C= (p.Gln311=) c.766C= (p.Gln256=) c.1015C= (p.Gln339=) c.829C= (p.Gln277=) n.946C= | |
| 13 | g.113118535C>G | CA388786005 | F7 | c.862C>G (p.Gln288Glu) c.928C>G (p.Gln310Glu) c.676C>G (p.Gln226Glu) n.949C>G c.721C>G (p.Gln241Glu) c.970C>G (p.Gln324Glu) c.784C>G (p.Gln262Glu) c.622C>G (p.Gln208Glu) c.931C>G (p.Gln311Glu) c.766C>G (p.Gln256Glu) c.1015C>G (p.Gln339Glu) c.829C>G (p.Gln277Glu) n.946C>G | |
| 13 | g.113118535C>T | CA256461545 | F7 | c.862C>T (p.Gln288Ter) c.928C>T (p.Gln310Ter) c.676C>T (p.Gln226Ter) n.949C>T c.721C>T (p.Gln241Ter) c.970C>T (p.Gln324Ter) c.784C>T (p.Gln262Ter) c.622C>T (p.Gln208Ter) c.931C>T (p.Gln311Ter) c.766C>T (p.Gln256Ter) c.1015C>T (p.Gln339Ter) c.829C>T (p.Gln277Ter) n.946C>T | dbSNP gnomAD v4 |
| 13 | g.113118536A>C | CA388786006 | F7 | c.863A>C (p.Gln288Pro) c.929A>C (p.Gln310Pro) c.677A>C (p.Gln226Pro) n.950A>C c.722A>C (p.Gln241Pro) c.971A>C (p.Gln324Pro) c.785A>C (p.Gln262Pro) c.623A>C (p.Gln208Pro) c.932A>C (p.Gln311Pro) c.767A>C (p.Gln256Pro) c.1016A>C (p.Gln339Pro) c.830A>C (p.Gln277Pro) n.947A>C | |
| 13 | g.113118536A>G | CA388786007 | F7 | c.863A>G (p.Gln288Arg) c.929A>G (p.Gln310Arg) c.677A>G (p.Gln226Arg) n.950A>G c.722A>G (p.Gln241Arg) c.971A>G (p.Gln324Arg) c.785A>G (p.Gln262Arg) c.623A>G (p.Gln208Arg) c.932A>G (p.Gln311Arg) c.767A>G (p.Gln256Arg) c.1016A>G (p.Gln339Arg) c.830A>G (p.Gln277Arg) n.947A>G | |
| 13 | g.113118536A>T | CA388786008 | F7 | c.863A>T (p.Gln288Leu) c.929A>T (p.Gln310Leu) c.677A>T (p.Gln226Leu) n.950A>T c.722A>T (p.Gln241Leu) c.971A>T (p.Gln324Leu) c.785A>T (p.Gln262Leu) c.623A>T (p.Gln208Leu) c.932A>T (p.Gln311Leu) c.767A>T (p.Gln256Leu) c.1016A>T (p.Gln339Leu) c.830A>T (p.Gln277Leu) n.947A>T | |
| 13 | g.113118537G>A | CA485423888 | F7 | c.864G>A (p.Gln288=) c.930G>A (p.Gln310=) c.678G>A (p.Gln226=) n.951G>A c.723G>A (p.Gln241=) c.972G>A (p.Gln324=) c.786G>A (p.Gln262=) c.624G>A (p.Gln208=) c.933G>A (p.Gln311=) c.768G>A (p.Gln256=) c.1017G>A (p.Gln339=) c.831G>A (p.Gln277=) n.948G>A | |
| 13 | g.113118537G>C | CA388786009 | F7 | c.864G>C (p.Gln288His) c.930G>C (p.Gln310His) c.678G>C (p.Gln226His) n.951G>C c.723G>C (p.Gln241His) c.972G>C (p.Gln324His) c.786G>C (p.Gln262His) c.624G>C (p.Gln208His) c.933G>C (p.Gln311His) c.768G>C (p.Gln256His) c.1017G>C (p.Gln339His) c.831G>C (p.Gln277His) n.948G>C | |
| 13 | g.113118537G= | CA2120142031 | F7 | c.864G= (p.Gln288=) c.930G= (p.Gln310=) c.678G= (p.Gln226=) n.951G= c.723G= (p.Gln241=) c.972G= (p.Gln324=) c.786G= (p.Gln262=) c.624G= (p.Gln208=) c.933G= (p.Gln311=) c.768G= (p.Gln256=) c.1017G= (p.Gln339=) c.831G= (p.Gln277=) n.948G= | |
| 13 | g.113118537G>T | CA388786010 | F7 | c.864G>T (p.Gln288His) c.930G>T (p.Gln310His) c.678G>T (p.Gln226His) n.951G>T c.723G>T (p.Gln241His) c.972G>T (p.Gln324His) c.786G>T (p.Gln262His) c.624G>T (p.Gln208His) c.933G>T (p.Gln311His) c.768G>T (p.Gln256His) c.1017G>T (p.Gln339His) c.831G>T (p.Gln277His) n.948G>T | dbSNP gnomAD v4 |
| 13 | g.113118538C>A | CA388786011 | F7 | c.865C>A (p.Pro289Thr) c.931C>A (p.Pro311Thr) c.679C>A (p.Pro227Thr) n.952C>A c.724C>A (p.Pro242Thr) c.973C>A (p.Pro325Thr) c.787C>A (p.Pro263Thr) c.625C>A (p.Pro209Thr) c.934C>A (p.Pro312Thr) c.769C>A (p.Pro257Thr) c.1018C>A (p.Pro340Thr) c.832C>A (p.Pro278Thr) n.949C>A | |
| 13 | g.113118538C>G | CA388786012 | F7 | c.865C>G (p.Pro289Ala) c.931C>G (p.Pro311Ala) c.679C>G (p.Pro227Ala) n.952C>G c.724C>G (p.Pro242Ala) c.973C>G (p.Pro325Ala) c.787C>G (p.Pro263Ala) c.625C>G (p.Pro209Ala) c.934C>G (p.Pro312Ala) c.769C>G (p.Pro257Ala) c.1018C>G (p.Pro340Ala) c.832C>G (p.Pro278Ala) n.949C>G | |
| 13 | g.113118538C>T | CA388786013 | F7 | c.865C>T (p.Pro289Ser) c.931C>T (p.Pro311Ser) c.679C>T (p.Pro227Ser) n.952C>T c.724C>T (p.Pro242Ser) c.973C>T (p.Pro325Ser) c.787C>T (p.Pro263Ser) c.625C>T (p.Pro209Ser) c.934C>T (p.Pro312Ser) c.769C>T (p.Pro257Ser) c.1018C>T (p.Pro340Ser) c.832C>T (p.Pro278Ser) n.949C>T | |
| 13 | g.113118539C>A | CA388786014 | F7 | c.866C>A (p.Pro289His) c.932C>A (p.Pro311His) c.680C>A (p.Pro227His) n.953C>A c.725C>A (p.Pro242His) c.974C>A (p.Pro325His) c.788C>A (p.Pro263His) c.626C>A (p.Pro209His) c.935C>A (p.Pro312His) c.770C>A (p.Pro257His) c.1019C>A (p.Pro340His) c.833C>A (p.Pro278His) n.950C>A | |
| 13 | g.113118539C= | CA2120142035 | F7 | c.866C= (p.Pro289=) c.932C= (p.Pro311=) c.680C= (p.Pro227=) n.953C= c.725C= (p.Pro242=) c.974C= (p.Pro325=) c.788C= (p.Pro263=) c.626C= (p.Pro209=) c.935C= (p.Pro312=) c.770C= (p.Pro257=) c.1019C= (p.Pro340=) c.833C= (p.Pro278=) n.950C= | |
| 13 | g.113118539C>G | CA388786015 | F7 | c.866C>G (p.Pro289Arg) c.932C>G (p.Pro311Arg) c.680C>G (p.Pro227Arg) n.953C>G c.725C>G (p.Pro242Arg) c.974C>G (p.Pro325Arg) c.788C>G (p.Pro263Arg) c.626C>G (p.Pro209Arg) c.935C>G (p.Pro312Arg) c.770C>G (p.Pro257Arg) c.1019C>G (p.Pro340Arg) c.833C>G (p.Pro278Arg) n.950C>G | |
| 13 | g.113118539C>T | CA7060169 | F7 | c.866C>T (p.Pro289Leu) c.932C>T (p.Pro311Leu) c.680C>T (p.Pro227Leu) n.953C>T c.725C>T (p.Pro242Leu) c.974C>T (p.Pro325Leu) c.788C>T (p.Pro263Leu) c.626C>T (p.Pro209Leu) c.935C>T (p.Pro312Leu) c.770C>T (p.Pro257Leu) c.1019C>T (p.Pro340Leu) c.833C>T (p.Pro278Leu) n.950C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.113118540C>A | CA485423889 | F7 | c.867C>A (p.Pro289=) c.933C>A (p.Pro311=) c.681C>A (p.Pro227=) n.954C>A c.726C>A (p.Pro242=) c.975C>A (p.Pro325=) c.789C>A (p.Pro263=) c.627C>A (p.Pro209=) c.936C>A (p.Pro312=) c.771C>A (p.Pro257=) c.1020C>A (p.Pro340=) c.834C>A (p.Pro278=) n.951C>A | |
| 13 | g.113118540C= | CA2120142036 | F7 | c.867C= (p.Pro289=) c.933C= (p.Pro311=) c.681C= (p.Pro227=) n.954C= c.726C= (p.Pro242=) c.975C= (p.Pro325=) c.789C= (p.Pro263=) c.627C= (p.Pro209=) c.936C= (p.Pro312=) c.771C= (p.Pro257=) c.1020C= (p.Pro340=) c.834C= (p.Pro278=) n.951C= |