Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.127426199_127426214del | CA2586969898 | PROC | c.650_665del (p.Met217ThrfsTer28) c.121-2158_121-2143del c.752_767del (p.Met251ThrfsTer28) n.236_251del c.833_848del (p.Met278ThrfsTer28) c.815_830del (p.Met272ThrfsTer28) c.713_728del (p.Met238ThrfsTer28) c.893_908del (p.Met298ThrfsTer28) c.995_1010del (p.Met332ThrfsTer28) c.935_950del (p.Met312ThrfsTer28) n.4374_4389del c.818_833del (p.Met273ThrfsTer28) c.836_851del (p.Met279ThrfsTer28) c.593_608del (p.Met198ThrfsTer28) c.626_641del (p.Met209ThrfsTer28) c.644_659del (p.Met215ThrfsTer28) | |
2 | g.127426214A= | CA1286883453 | PROC | c.665A= (p.Asp222=) c.121-2143A= c.767A= (p.Asp256=) n.251A= c.848A= (p.Asp283=) c.830A= (p.Asp277=) c.728A= (p.Asp243=) c.908A= (p.Asp303=) c.1010A= (p.Asp337=) c.950A= (p.Asp317=) n.4371T= c.833A= (p.Asp278=) c.851A= (p.Asp284=) c.608A= (p.Asp203=) c.641A= (p.Asp214=) c.659A= (p.Asp220=) | |
2 | g.127426214A>C | CA348401696 | PROC | c.665A>C (p.Asp222Ala) c.121-2143A>C c.767A>C (p.Asp256Ala) n.251A>C c.848A>C (p.Asp283Ala) c.830A>C (p.Asp277Ala) c.728A>C (p.Asp243Ala) c.908A>C (p.Asp303Ala) c.1010A>C (p.Asp337Ala) c.950A>C (p.Asp317Ala) n.4371T>G c.833A>C (p.Asp278Ala) c.851A>C (p.Asp284Ala) c.608A>C (p.Asp203Ala) c.641A>C (p.Asp214Ala) c.659A>C (p.Asp220Ala) | |
2 | g.127426214A>G | CA348401698 | PROC | c.665A>G (p.Asp222Gly) c.121-2143A>G c.767A>G (p.Asp256Gly) n.251A>G c.848A>G (p.Asp283Gly) c.830A>G (p.Asp277Gly) c.728A>G (p.Asp243Gly) c.908A>G (p.Asp303Gly) c.1010A>G (p.Asp337Gly) c.950A>G (p.Asp317Gly) n.4371T>C c.833A>G (p.Asp278Gly) c.851A>G (p.Asp284Gly) c.608A>G (p.Asp203Gly) c.641A>G (p.Asp214Gly) c.659A>G (p.Asp220Gly) | dbSNP |
2 | g.127426214A>T | CA348401700 | PROC | c.665A>T (p.Asp222Val) c.121-2143A>T c.767A>T (p.Asp256Val) n.251A>T c.848A>T (p.Asp283Val) c.830A>T (p.Asp277Val) c.728A>T (p.Asp243Val) c.908A>T (p.Asp303Val) c.1010A>T (p.Asp337Val) c.950A>T (p.Asp317Val) n.4371T>A c.833A>T (p.Asp278Val) c.851A>T (p.Asp284Val) c.608A>T (p.Asp203Val) c.641A>T (p.Asp214Val) c.659A>T (p.Asp220Val) | |
2 | g.127426215C>A | CA348401704 | PROC | c.666C>A (p.Asp222Glu) c.121-2142C>A c.768C>A (p.Asp256Glu) n.252C>A c.849C>A (p.Asp283Glu) c.831C>A (p.Asp277Glu) c.729C>A (p.Asp243Glu) c.909C>A (p.Asp303Glu) c.1011C>A (p.Asp337Glu) c.951C>A (p.Asp317Glu) n.4370G>T c.834C>A (p.Asp278Glu) c.852C>A (p.Asp284Glu) c.609C>A (p.Asp203Glu) c.642C>A (p.Asp214Glu) c.660C>A (p.Asp220Glu) | |
2 | g.127426215C= | CA1286883454 | PROC | c.666C= (p.Asp222=) c.121-2142C= c.768C= (p.Asp256=) n.252C= c.849C= (p.Asp283=) c.831C= (p.Asp277=) c.729C= (p.Asp243=) c.909C= (p.Asp303=) c.1011C= (p.Asp337=) c.951C= (p.Asp317=) n.4370G= c.834C= (p.Asp278=) c.852C= (p.Asp284=) c.609C= (p.Asp203=) c.642C= (p.Asp214=) c.660C= (p.Asp220=) | |
2 | g.127426215C>G | CA10612100 | PROC | c.666C>G (p.Asp222Glu) c.121-2142C>G c.768C>G (p.Asp256Glu) n.252C>G c.849C>G (p.Asp283Glu) c.831C>G (p.Asp277Glu) c.729C>G (p.Asp243Glu) c.909C>G (p.Asp303Glu) c.1011C>G (p.Asp337Glu) c.951C>G (p.Asp317Glu) n.4370G>C c.834C>G (p.Asp278Glu) c.852C>G (p.Asp284Glu) c.609C>G (p.Asp203Glu) c.642C>G (p.Asp214Glu) c.660C>G (p.Asp220Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.127426215C>T | CA428618361 | PROC | c.666C>T (p.Asp222=) c.121-2142C>T c.768C>T (p.Asp256=) n.252C>T c.849C>T (p.Asp283=) c.831C>T (p.Asp277=) c.729C>T (p.Asp243=) c.909C>T (p.Asp303=) c.1011C>T (p.Asp337=) c.951C>T (p.Asp317=) n.4370G>A c.834C>T (p.Asp278=) c.852C>T (p.Asp284=) c.609C>T (p.Asp203=) c.642C>T (p.Asp214=) c.660C>T (p.Asp220=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426216A>C | CA348401707 | PROC | c.667A>C (p.Ser223Arg) c.121-2141A>C c.769A>C (p.Ser257Arg) n.253A>C c.850A>C (p.Ser284Arg) c.832A>C (p.Ser278Arg) c.730A>C (p.Ser244Arg) c.910A>C (p.Ser304Arg) c.1012A>C (p.Ser338Arg) c.952A>C (p.Ser318Arg) n.4369T>G c.835A>C (p.Ser279Arg) c.853A>C (p.Ser285Arg) c.610A>C (p.Ser204Arg) c.643A>C (p.Ser215Arg) c.661A>C (p.Ser221Arg) | |
2 | g.127426216A>G | CA348401709 | PROC | c.667A>G (p.Ser223Gly) c.121-2141A>G c.769A>G (p.Ser257Gly) n.253A>G c.850A>G (p.Ser284Gly) c.832A>G (p.Ser278Gly) c.730A>G (p.Ser244Gly) c.910A>G (p.Ser304Gly) c.1012A>G (p.Ser338Gly) c.952A>G (p.Ser318Gly) n.4369T>C c.835A>G (p.Ser279Gly) c.853A>G (p.Ser285Gly) c.610A>G (p.Ser204Gly) c.643A>G (p.Ser215Gly) c.661A>G (p.Ser221Gly) | gnomAD v4 |
2 | g.127426216A>T | CA348401712 | PROC | c.667A>T (p.Ser223Cys) c.121-2141A>T c.769A>T (p.Ser257Cys) n.253A>T c.850A>T (p.Ser284Cys) c.832A>T (p.Ser278Cys) c.730A>T (p.Ser244Cys) c.910A>T (p.Ser304Cys) c.1012A>T (p.Ser338Cys) c.952A>T (p.Ser318Cys) n.4369T>A c.835A>T (p.Ser279Cys) c.853A>T (p.Ser285Cys) c.610A>T (p.Ser204Cys) c.643A>T (p.Ser215Cys) c.661A>T (p.Ser221Cys) | |
2 | g.127426217G>A | CA348401719 | PROC | c.668G>A (p.Ser223Asn) c.121-2140G>A c.770G>A (p.Ser257Asn) n.254G>A c.851G>A (p.Ser284Asn) c.833G>A (p.Ser278Asn) c.731G>A (p.Ser244Asn) c.911G>A (p.Ser304Asn) c.1013G>A (p.Ser338Asn) c.953G>A (p.Ser318Asn) n.4368C>T c.836G>A (p.Ser279Asn) c.854G>A (p.Ser285Asn) c.611G>A (p.Ser204Asn) c.644G>A (p.Ser215Asn) c.662G>A (p.Ser221Asn) | gnomAD v4 |
2 | g.127426217G>C | CA348401717 | PROC | c.668G>C (p.Ser223Thr) c.121-2140G>C c.770G>C (p.Ser257Thr) n.254G>C c.851G>C (p.Ser284Thr) c.833G>C (p.Ser278Thr) c.731G>C (p.Ser244Thr) c.911G>C (p.Ser304Thr) c.1013G>C (p.Ser338Thr) c.953G>C (p.Ser318Thr) n.4368C>G c.836G>C (p.Ser279Thr) c.854G>C (p.Ser285Thr) c.611G>C (p.Ser204Thr) c.644G>C (p.Ser215Thr) c.662G>C (p.Ser221Thr) | |
2 | g.127426217G>T | CA348401715 | PROC | c.668G>T (p.Ser223Ile) c.121-2140G>T c.770G>T (p.Ser257Ile) n.254G>T c.851G>T (p.Ser284Ile) c.833G>T (p.Ser278Ile) c.731G>T (p.Ser244Ile) c.911G>T (p.Ser304Ile) c.1013G>T (p.Ser338Ile) c.953G>T (p.Ser318Ile) n.4368C>A c.836G>T (p.Ser279Ile) c.854G>T (p.Ser285Ile) c.611G>T (p.Ser204Ile) c.644G>T (p.Ser215Ile) c.662G>T (p.Ser221Ile) | |
2 | g.127426218C>A | CA55348452 | PROC | c.669C>A (p.Ser223Arg) c.121-2139C>A c.771C>A (p.Ser257Arg) n.255C>A c.852C>A (p.Ser284Arg) c.834C>A (p.Ser278Arg) c.732C>A (p.Ser244Arg) c.912C>A (p.Ser304Arg) c.1014C>A (p.Ser338Arg) c.954C>A (p.Ser318Arg) n.4367G>T c.837C>A (p.Ser279Arg) c.855C>A (p.Ser285Arg) c.612C>A (p.Ser204Arg) c.645C>A (p.Ser215Arg) c.663C>A (p.Ser221Arg) | dbSNP gnomAD v4 |
2 | g.127426218C= | CA1286883455 | PROC | c.669C= (p.Ser223=) c.121-2139C= c.771C= (p.Ser257=) n.255C= c.852C= (p.Ser284=) c.834C= (p.Ser278=) c.732C= (p.Ser244=) c.912C= (p.Ser304=) c.1014C= (p.Ser338=) c.954C= (p.Ser318=) n.4367G= c.837C= (p.Ser279=) c.855C= (p.Ser285=) c.612C= (p.Ser204=) c.645C= (p.Ser215=) c.663C= (p.Ser221=) | |
2 | g.127426218C>G | CA348401722 | PROC | c.669C>G (p.Ser223Arg) c.121-2139C>G c.771C>G (p.Ser257Arg) n.255C>G c.852C>G (p.Ser284Arg) c.834C>G (p.Ser278Arg) c.732C>G (p.Ser244Arg) c.912C>G (p.Ser304Arg) c.1014C>G (p.Ser338Arg) c.954C>G (p.Ser318Arg) n.4367G>C c.837C>G (p.Ser279Arg) c.855C>G (p.Ser285Arg) c.612C>G (p.Ser204Arg) c.645C>G (p.Ser215Arg) c.663C>G (p.Ser221Arg) | |
2 | g.127426218C>T | CA428618362 | PROC | c.669C>T (p.Ser223=) c.121-2139C>T c.771C>T (p.Ser257=) n.255C>T c.852C>T (p.Ser284=) c.834C>T (p.Ser278=) c.732C>T (p.Ser244=) c.912C>T (p.Ser304=) c.1014C>T (p.Ser338=) c.954C>T (p.Ser318=) n.4367G>A c.837C>T (p.Ser279=) c.855C>T (p.Ser285=) c.612C>T (p.Ser204=) c.645C>T (p.Ser215=) c.663C>T (p.Ser221=) | |
2 | g.127426219C>A | CA348401723 | PROC | c.670C>A (p.Pro224Thr) c.121-2138C>A c.772C>A (p.Pro258Thr) n.256C>A c.853C>A (p.Pro285Thr) c.835C>A (p.Pro279Thr) c.733C>A (p.Pro245Thr) c.913C>A (p.Pro305Thr) c.1015C>A (p.Pro339Thr) c.955C>A (p.Pro319Thr) n.4366G>T c.838C>A (p.Pro280Thr) c.856C>A (p.Pro286Thr) c.613C>A (p.Pro205Thr) c.646C>A (p.Pro216Thr) c.664C>A (p.Pro222Thr) | |
2 | g.127426219C>G | CA348401727 | PROC | c.670C>G (p.Pro224Ala) c.121-2138C>G c.772C>G (p.Pro258Ala) n.256C>G c.853C>G (p.Pro285Ala) c.835C>G (p.Pro279Ala) c.733C>G (p.Pro245Ala) c.913C>G (p.Pro305Ala) c.1015C>G (p.Pro339Ala) c.955C>G (p.Pro319Ala) n.4366G>C c.838C>G (p.Pro280Ala) c.856C>G (p.Pro286Ala) c.613C>G (p.Pro205Ala) c.646C>G (p.Pro216Ala) c.664C>G (p.Pro222Ala) | |
2 | g.127426219C>T | CA348401725 | PROC | c.670C>T (p.Pro224Ser) c.121-2138C>T c.772C>T (p.Pro258Ser) n.256C>T c.853C>T (p.Pro285Ser) c.835C>T (p.Pro279Ser) c.733C>T (p.Pro245Ser) c.913C>T (p.Pro305Ser) c.1015C>T (p.Pro339Ser) c.955C>T (p.Pro319Ser) n.4366G>A c.838C>T (p.Pro280Ser) c.856C>T (p.Pro286Ser) c.613C>T (p.Pro205Ser) c.646C>T (p.Pro216Ser) c.664C>T (p.Pro222Ser) | |
2 | g.127426220C>A | CA348401729 | PROC | c.671C>A (p.Pro224His) c.121-2137C>A c.773C>A (p.Pro258His) n.257C>A c.854C>A (p.Pro285His) c.836C>A (p.Pro279His) c.734C>A (p.Pro245His) c.914C>A (p.Pro305His) c.1016C>A (p.Pro339His) c.956C>A (p.Pro319His) n.4365G>T c.839C>A (p.Pro280His) c.857C>A (p.Pro286His) c.614C>A (p.Pro205His) c.647C>A (p.Pro216His) c.665C>A (p.Pro222His) | |
2 | g.127426220C>G | CA348401732 | PROC | c.671C>G (p.Pro224Arg) c.121-2137C>G c.773C>G (p.Pro258Arg) n.257C>G c.854C>G (p.Pro285Arg) c.836C>G (p.Pro279Arg) c.734C>G (p.Pro245Arg) c.914C>G (p.Pro305Arg) c.1016C>G (p.Pro339Arg) c.956C>G (p.Pro319Arg) n.4365G>C c.839C>G (p.Pro280Arg) c.857C>G (p.Pro286Arg) c.614C>G (p.Pro205Arg) c.647C>G (p.Pro216Arg) c.665C>G (p.Pro222Arg) | |
2 | g.127426220C>T | CA348401734 | PROC | c.671C>T (p.Pro224Leu) c.121-2137C>T c.773C>T (p.Pro258Leu) n.257C>T c.854C>T (p.Pro285Leu) c.836C>T (p.Pro279Leu) c.734C>T (p.Pro245Leu) c.914C>T (p.Pro305Leu) c.1016C>T (p.Pro339Leu) c.956C>T (p.Pro319Leu) n.4365G>A c.839C>T (p.Pro280Leu) c.857C>T (p.Pro286Leu) c.614C>T (p.Pro205Leu) c.647C>T (p.Pro216Leu) c.665C>T (p.Pro222Leu) | |
2 | g.127426221C>A | CA428618364 | PROC | c.672C>A (p.Pro224=) c.121-2136C>A c.774C>A (p.Pro258=) n.258C>A c.855C>A (p.Pro285=) c.837C>A (p.Pro279=) c.735C>A (p.Pro245=) c.915C>A (p.Pro305=) c.1017C>A (p.Pro339=) c.957C>A (p.Pro319=) n.4364G>T c.840C>A (p.Pro280=) c.858C>A (p.Pro286=) c.615C>A (p.Pro205=) c.648C>A (p.Pro216=) c.666C>A (p.Pro222=) | dbSNP |
2 | g.127426221C>G | CA428618366 | PROC | c.672C>G (p.Pro224=) c.121-2136C>G c.774C>G (p.Pro258=) n.258C>G c.855C>G (p.Pro285=) c.837C>G (p.Pro279=) c.735C>G (p.Pro245=) c.915C>G (p.Pro305=) c.1017C>G (p.Pro339=) c.957C>G (p.Pro319=) n.4364G>C c.840C>G (p.Pro280=) c.858C>G (p.Pro286=) c.615C>G (p.Pro205=) c.648C>G (p.Pro216=) c.666C>G (p.Pro222=) | |
2 | g.127426221C>T | CA428618365 | PROC | c.672C>T (p.Pro224=) c.121-2136C>T c.774C>T (p.Pro258=) n.258C>T c.855C>T (p.Pro285=) c.837C>T (p.Pro279=) c.735C>T (p.Pro245=) c.915C>T (p.Pro305=) c.1017C>T (p.Pro339=) c.957C>T (p.Pro319=) n.4364G>A c.840C>T (p.Pro280=) c.858C>T (p.Pro286=) c.615C>T (p.Pro205=) c.648C>T (p.Pro216=) c.666C>T (p.Pro222=) | |
2 | g.127426221_127426222delinsCT | CA1286883456 | PROC | c.672_673delinsCT (p.Pro224=) c.121-2136_121-2135delinsCT c.774_775delinsCT (p.Pro258=) n.258_259delinsCT c.855_856delinsCT (p.Pro285=) c.837_838delinsCT (p.Pro279=) c.735_736delinsCT (p.Pro245=) c.915_916delinsCT (p.Pro305=) c.1017_1018delinsCT (p.Pro339=) c.957_958delinsCT (p.Pro319=) n.4363_4364delinsAG c.840_841delinsCT (p.Pro280=) c.858_859delinsCT (p.Pro286=) c.615_616delinsCT (p.Pro205=) c.648_649delinsCT (p.Pro216=) c.666_667delinsCT (p.Pro222=) | |
2 | g.127426222del | CA1286883457 | PROC | c.673del (p.Trp225GlyfsTer25) c.121-2135del c.775del (p.Trp259GlyfsTer25) n.259del c.856del (p.Trp286GlyfsTer25) c.838del (p.Trp280GlyfsTer25) c.736del (p.Trp246GlyfsTer25) c.916del (p.Trp306GlyfsTer25) c.1018del (p.Trp340GlyfsTer25) c.958del (p.Trp320GlyfsTer25) n.4363del c.841del (p.Trp281GlyfsTer25) c.859del (p.Trp287GlyfsTer25) c.616del (p.Trp206GlyfsTer25) c.649del (p.Trp217GlyfsTer25) c.667del (p.Trp223GlyfsTer25) | dbSNP |
2 | g.127426222T>A | CA348401741 | PROC | c.673T>A (p.Trp225Arg) c.121-2135T>A c.775T>A (p.Trp259Arg) n.259T>A c.856T>A (p.Trp286Arg) c.838T>A (p.Trp280Arg) c.736T>A (p.Trp246Arg) c.916T>A (p.Trp306Arg) c.1018T>A (p.Trp340Arg) c.958T>A (p.Trp320Arg) n.4363A>T c.841T>A (p.Trp281Arg) c.859T>A (p.Trp287Arg) c.616T>A (p.Trp206Arg) c.649T>A (p.Trp217Arg) c.667T>A (p.Trp223Arg) | |
2 | g.127426222T>C | CA348401743 | PROC | c.673T>C (p.Trp225Arg) c.121-2135T>C c.775T>C (p.Trp259Arg) n.259T>C c.856T>C (p.Trp286Arg) c.838T>C (p.Trp280Arg) c.736T>C (p.Trp246Arg) c.916T>C (p.Trp306Arg) c.1018T>C (p.Trp340Arg) c.958T>C (p.Trp320Arg) n.4363A>G c.841T>C (p.Trp281Arg) c.859T>C (p.Trp287Arg) c.616T>C (p.Trp206Arg) c.649T>C (p.Trp217Arg) c.667T>C (p.Trp223Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.127426222T>G | CA348401744 | PROC | c.673T>G (p.Trp225Gly) c.121-2135T>G c.775T>G (p.Trp259Gly) n.259T>G c.856T>G (p.Trp286Gly) c.838T>G (p.Trp280Gly) c.736T>G (p.Trp246Gly) c.916T>G (p.Trp306Gly) c.1018T>G (p.Trp340Gly) c.958T>G (p.Trp320Gly) n.4363A>C c.841T>G (p.Trp281Gly) c.859T>G (p.Trp287Gly) c.616T>G (p.Trp206Gly) c.649T>G (p.Trp217Gly) c.667T>G (p.Trp223Gly) | ClinVar dbSNP gnomAD v4 |
2 | g.127426222T= | CA1286883458 | PROC | c.673T= (p.Trp225=) c.121-2135T= c.775T= (p.Trp259=) n.259T= c.856T= (p.Trp286=) c.838T= (p.Trp280=) c.736T= (p.Trp246=) c.916T= (p.Trp306=) c.1018T= (p.Trp340=) c.958T= (p.Trp320=) n.4363A= c.841T= (p.Trp281=) c.859T= (p.Trp287=) c.616T= (p.Trp206=) c.649T= (p.Trp217=) c.667T= (p.Trp223=) | |
2 | g.127426223G>A | CA348401747 | PROC | c.674G>A (p.Trp225Ter) c.121-2134G>A c.776G>A (p.Trp259Ter) n.260G>A c.857G>A (p.Trp286Ter) c.839G>A (p.Trp280Ter) c.737G>A (p.Trp246Ter) c.917G>A (p.Trp306Ter) c.1019G>A (p.Trp340Ter) c.959G>A (p.Trp320Ter) n.4362C>T c.842G>A (p.Trp281Ter) c.860G>A (p.Trp287Ter) c.617G>A (p.Trp206Ter) c.650G>A (p.Trp217Ter) c.668G>A (p.Trp223Ter) | |
2 | g.127426223G>C | CA348401787 | PROC | c.674G>C (p.Trp225Ser) c.121-2134G>C c.776G>C (p.Trp259Ser) n.260G>C c.857G>C (p.Trp286Ser) c.839G>C (p.Trp280Ser) c.737G>C (p.Trp246Ser) c.917G>C (p.Trp306Ser) c.1019G>C (p.Trp340Ser) c.959G>C (p.Trp320Ser) n.4362C>G c.842G>C (p.Trp281Ser) c.860G>C (p.Trp287Ser) c.617G>C (p.Trp206Ser) c.650G>C (p.Trp217Ser) c.668G>C (p.Trp223Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426223G= | CA1286883459 | PROC | c.674G= (p.Trp225=) c.121-2134G= c.776G= (p.Trp259=) n.260G= c.857G= (p.Trp286=) c.839G= (p.Trp280=) c.737G= (p.Trp246=) c.917G= (p.Trp306=) c.1019G= (p.Trp340=) c.959G= (p.Trp320=) n.4362C= c.842G= (p.Trp281=) c.860G= (p.Trp287=) c.617G= (p.Trp206=) c.650G= (p.Trp217=) c.668G= (p.Trp223=) | |
2 | g.127426223G>T | CA348401789 | PROC | c.674G>T (p.Trp225Leu) c.121-2134G>T c.776G>T (p.Trp259Leu) n.260G>T c.857G>T (p.Trp286Leu) c.839G>T (p.Trp280Leu) c.737G>T (p.Trp246Leu) c.917G>T (p.Trp306Leu) c.1019G>T (p.Trp340Leu) c.959G>T (p.Trp320Leu) n.4362C>A c.842G>T (p.Trp281Leu) c.860G>T (p.Trp287Leu) c.617G>T (p.Trp206Leu) c.650G>T (p.Trp217Leu) c.668G>T (p.Trp223Leu) | |
2 | g.127426224G>A | CA348401792 | PROC | c.675G>A (p.Trp225Ter) c.121-2133G>A c.777G>A (p.Trp259Ter) n.261G>A c.858G>A (p.Trp286Ter) c.840G>A (p.Trp280Ter) c.738G>A (p.Trp246Ter) c.918G>A (p.Trp306Ter) c.1020G>A (p.Trp340Ter) c.960G>A (p.Trp320Ter) n.4361C>T c.843G>A (p.Trp281Ter) c.861G>A (p.Trp287Ter) c.618G>A (p.Trp206Ter) c.651G>A (p.Trp217Ter) c.669G>A (p.Trp223Ter) | ClinVar dbSNP |
2 | g.127426224G>C | CA1859405 | PROC | c.675G>C (p.Trp225Cys) c.121-2133G>C c.777G>C (p.Trp259Cys) n.261G>C c.858G>C (p.Trp286Cys) c.840G>C (p.Trp280Cys) c.738G>C (p.Trp246Cys) c.918G>C (p.Trp306Cys) c.1020G>C (p.Trp340Cys) c.960G>C (p.Trp320Cys) n.4361C>G c.843G>C (p.Trp281Cys) c.861G>C (p.Trp287Cys) c.618G>C (p.Trp206Cys) c.651G>C (p.Trp217Cys) c.669G>C (p.Trp223Cys) | dbSNP ExAC gnomAD v2 |
2 | g.127426224G= | CA1286883460 | PROC | c.675G= (p.Trp225=) c.121-2133G= c.777G= (p.Trp259=) n.261G= c.858G= (p.Trp286=) c.840G= (p.Trp280=) c.738G= (p.Trp246=) c.918G= (p.Trp306=) c.1020G= (p.Trp340=) c.960G= (p.Trp320=) n.4361C= c.843G= (p.Trp281=) c.861G= (p.Trp287=) c.618G= (p.Trp206=) c.651G= (p.Trp217=) c.669G= (p.Trp223=) | |
2 | g.127426224G>T | CA348401801 | PROC | c.675G>T (p.Trp225Cys) c.121-2133G>T c.777G>T (p.Trp259Cys) n.261G>T c.858G>T (p.Trp286Cys) c.840G>T (p.Trp280Cys) c.738G>T (p.Trp246Cys) c.918G>T (p.Trp306Cys) c.1020G>T (p.Trp340Cys) c.960G>T (p.Trp320Cys) n.4361C>A c.843G>T (p.Trp281Cys) c.861G>T (p.Trp287Cys) c.618G>T (p.Trp206Cys) c.651G>T (p.Trp217Cys) c.669G>T (p.Trp223Cys) | |
2 | g.127426225C>A | CA348401817 | PROC | c.676C>A (p.Gln226Lys) c.121-2132C>A c.778C>A (p.Gln260Lys) n.262C>A c.859C>A (p.Gln287Lys) c.841C>A (p.Gln281Lys) c.739C>A (p.Gln247Lys) c.919C>A (p.Gln307Lys) c.1021C>A (p.Gln341Lys) c.961C>A (p.Gln321Lys) n.4360G>T c.844C>A (p.Gln282Lys) c.862C>A (p.Gln288Lys) c.619C>A (p.Gln207Lys) c.652C>A (p.Gln218Lys) c.670C>A (p.Gln224Lys) | |
2 | g.127426225C>G | CA348401812 | PROC | c.676C>G (p.Gln226Glu) c.121-2132C>G c.778C>G (p.Gln260Glu) n.262C>G c.859C>G (p.Gln287Glu) c.841C>G (p.Gln281Glu) c.739C>G (p.Gln247Glu) c.919C>G (p.Gln307Glu) c.1021C>G (p.Gln341Glu) c.961C>G (p.Gln321Glu) n.4360G>C c.844C>G (p.Gln282Glu) c.862C>G (p.Gln288Glu) c.619C>G (p.Gln207Glu) c.652C>G (p.Gln218Glu) c.670C>G (p.Gln224Glu) | |
2 | g.127426225C>T | CA348401814 | PROC | c.676C>T (p.Gln226Ter) c.121-2132C>T c.778C>T (p.Gln260Ter) n.262C>T c.859C>T (p.Gln287Ter) c.841C>T (p.Gln281Ter) c.739C>T (p.Gln247Ter) c.919C>T (p.Gln307Ter) c.1021C>T (p.Gln341Ter) c.961C>T (p.Gln321Ter) n.4360G>A c.844C>T (p.Gln282Ter) c.862C>T (p.Gln288Ter) c.619C>T (p.Gln207Ter) c.652C>T (p.Gln218Ter) c.670C>T (p.Gln224Ter) | |
2 | g.127426226A>C | CA348401820 | PROC | c.677A>C (p.Gln226Pro) c.121-2131A>C c.779A>C (p.Gln260Pro) n.263A>C c.860A>C (p.Gln287Pro) c.842A>C (p.Gln281Pro) c.740A>C (p.Gln247Pro) c.920A>C (p.Gln307Pro) c.1022A>C (p.Gln341Pro) c.962A>C (p.Gln321Pro) n.4359T>G c.845A>C (p.Gln282Pro) c.863A>C (p.Gln288Pro) c.620A>C (p.Gln207Pro) c.653A>C (p.Gln218Pro) c.671A>C (p.Gln224Pro) | |
2 | g.127426226A>G | CA348401823 | PROC | c.677A>G (p.Gln226Arg) c.121-2131A>G c.779A>G (p.Gln260Arg) n.263A>G c.860A>G (p.Gln287Arg) c.842A>G (p.Gln281Arg) c.740A>G (p.Gln247Arg) c.920A>G (p.Gln307Arg) c.1022A>G (p.Gln341Arg) c.962A>G (p.Gln321Arg) n.4359T>C c.845A>G (p.Gln282Arg) c.863A>G (p.Gln288Arg) c.620A>G (p.Gln207Arg) c.653A>G (p.Gln218Arg) c.671A>G (p.Gln224Arg) | ClinVar dbSNP |
2 | g.127426226A>T | CA348401825 | PROC | c.677A>T (p.Gln226Leu) c.121-2131A>T c.779A>T (p.Gln260Leu) n.263A>T c.860A>T (p.Gln287Leu) c.842A>T (p.Gln281Leu) c.740A>T (p.Gln247Leu) c.920A>T (p.Gln307Leu) c.1022A>T (p.Gln341Leu) c.962A>T (p.Gln321Leu) n.4359T>A c.845A>T (p.Gln282Leu) c.863A>T (p.Gln288Leu) c.620A>T (p.Gln207Leu) c.653A>T (p.Gln218Leu) c.671A>T (p.Gln224Leu) | |
2 | g.127426227G>A | CA428618368 | PROC | c.678G>A (p.Gln226=) c.121-2130G>A c.780G>A (p.Gln260=) n.264G>A c.861G>A (p.Gln287=) c.843G>A (p.Gln281=) c.741G>A (p.Gln247=) c.921G>A (p.Gln307=) c.1023G>A (p.Gln341=) c.963G>A (p.Gln321=) n.4358C>T c.846G>A (p.Gln282=) c.864G>A (p.Gln288=) c.621G>A (p.Gln207=) c.654G>A (p.Gln218=) c.672G>A (p.Gln224=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.127426227G>C | CA114416 | PROC | c.678G>C (p.Gln226His) c.121-2130G>C c.780G>C (p.Gln260His) n.264G>C c.861G>C (p.Gln287His) c.843G>C (p.Gln281His) c.741G>C (p.Gln247His) c.921G>C (p.Gln307His) c.1023G>C (p.Gln341His) c.963G>C (p.Gln321His) n.4358C>G c.846G>C (p.Gln282His) c.864G>C (p.Gln288His) c.621G>C (p.Gln207His) c.654G>C (p.Gln218His) c.672G>C (p.Gln224His) | ClinVar dbSNP |