| 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.127426207C>A | CA428618351 | PROC | c.658C>A (p.Arg220=) c.121-2150C>A c.760C>A (p.Arg254=) n.244C>A c.841C>A (p.Arg281=) c.823C>A (p.Arg275=) c.721C>A (p.Arg241=) c.901C>A (p.Arg301=) c.1003C>A (p.Arg335=) c.943C>A (p.Arg315=) n.4378G>T c.826C>A (p.Arg276=) c.844C>A (p.Arg282=) c.601C>A (p.Arg201=) c.634C>A (p.Arg212=) c.652C>A (p.Arg218=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127426207C= | CA1286883448 | PROC | c.658C= (p.Arg220=) c.121-2150C= c.760C= (p.Arg254=) n.244C= c.841C= (p.Arg281=) c.823C= (p.Arg275=) c.721C= (p.Arg241=) c.901C= (p.Arg301=) c.1003C= (p.Arg335=) c.943C= (p.Arg315=) n.4378G= c.826C= (p.Arg276=) c.844C= (p.Arg282=) c.601C= (p.Arg201=) c.634C= (p.Arg212=) c.652C= (p.Arg218=) | |
| 2 | g.127426207C>G | CA348401654 | PROC | c.658C>G (p.Arg220Gly) c.121-2150C>G c.760C>G (p.Arg254Gly) n.244C>G c.841C>G (p.Arg281Gly) c.823C>G (p.Arg275Gly) c.721C>G (p.Arg241Gly) c.901C>G (p.Arg301Gly) c.1003C>G (p.Arg335Gly) c.943C>G (p.Arg315Gly) n.4378G>C c.826C>G (p.Arg276Gly) c.844C>G (p.Arg282Gly) c.601C>G (p.Arg201Gly) c.634C>G (p.Arg212Gly) c.652C>G (p.Arg218Gly) | |
| 2 | g.127426207C>T | CA114410 | PROC | c.658C>T (p.Arg220Trp) c.121-2150C>T c.760C>T (p.Arg254Trp) n.244C>T c.841C>T (p.Arg281Trp) c.823C>T (p.Arg275Trp) c.721C>T (p.Arg241Trp) c.901C>T (p.Arg301Trp) c.1003C>T (p.Arg335Trp) c.943C>T (p.Arg315Trp) n.4378G>A c.826C>T (p.Arg276Trp) c.844C>T (p.Arg282Trp) c.601C>T (p.Arg201Trp) c.634C>T (p.Arg212Trp) c.652C>T (p.Arg218Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.127426208G>A | CA114412 | PROC | c.659G>A (p.Arg220Gln) c.121-2149G>A c.761G>A (p.Arg254Gln) n.245G>A c.842G>A (p.Arg281Gln) c.824G>A (p.Arg275Gln) c.722G>A (p.Arg241Gln) c.902G>A (p.Arg301Gln) c.1004G>A (p.Arg335Gln) c.944G>A (p.Arg315Gln) n.4377C>T c.827G>A (p.Arg276Gln) c.845G>A (p.Arg282Gln) c.602G>A (p.Arg201Gln) c.635G>A (p.Arg212Gln) c.653G>A (p.Arg218Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127426208G>C | CA348401661 | PROC | c.659G>C (p.Arg220Pro) c.121-2149G>C c.761G>C (p.Arg254Pro) n.245G>C c.842G>C (p.Arg281Pro) c.824G>C (p.Arg275Pro) c.722G>C (p.Arg241Pro) c.902G>C (p.Arg301Pro) c.1004G>C (p.Arg335Pro) c.944G>C (p.Arg315Pro) n.4377C>G c.827G>C (p.Arg276Pro) c.845G>C (p.Arg282Pro) c.602G>C (p.Arg201Pro) c.635G>C (p.Arg212Pro) c.653G>C (p.Arg218Pro) | ClinVar dbSNP |
| 2 | g.127426208G= | CA1286883449 | PROC | c.659G= (p.Arg220=) c.121-2149G= c.761G= (p.Arg254=) n.245G= c.842G= (p.Arg281=) c.824G= (p.Arg275=) c.722G= (p.Arg241=) c.902G= (p.Arg301=) c.1004G= (p.Arg335=) c.944G= (p.Arg315=) n.4377C= c.827G= (p.Arg276=) c.845G= (p.Arg282=) c.602G= (p.Arg201=) c.635G= (p.Arg212=) c.653G= (p.Arg218=) | |
| 2 | g.127426208G>T | CA1859404 | PROC | c.659G>T (p.Arg220Leu) c.121-2149G>T c.761G>T (p.Arg254Leu) n.245G>T c.842G>T (p.Arg281Leu) c.824G>T (p.Arg275Leu) c.722G>T (p.Arg241Leu) c.902G>T (p.Arg301Leu) c.1004G>T (p.Arg335Leu) c.944G>T (p.Arg315Leu) n.4377C>A c.827G>T (p.Arg276Leu) c.845G>T (p.Arg282Leu) c.602G>T (p.Arg201Leu) c.635G>T (p.Arg212Leu) c.653G>T (p.Arg218Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127426209G>A | CA428618353 | PROC | c.660G>A (p.Arg220=) c.121-2148G>A c.762G>A (p.Arg254=) n.246G>A c.843G>A (p.Arg281=) c.825G>A (p.Arg275=) c.723G>A (p.Arg241=) c.903G>A (p.Arg301=) c.1005G>A (p.Arg335=) c.945G>A (p.Arg315=) n.4376C>T c.828G>A (p.Arg276=) c.846G>A (p.Arg282=) c.603G>A (p.Arg201=) c.636G>A (p.Arg212=) c.654G>A (p.Arg218=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.127426209G>C | CA428618354 | PROC | c.660G>C (p.Arg220=) c.121-2148G>C c.762G>C (p.Arg254=) n.246G>C c.843G>C (p.Arg281=) c.825G>C (p.Arg275=) c.723G>C (p.Arg241=) c.903G>C (p.Arg301=) c.1005G>C (p.Arg335=) c.945G>C (p.Arg315=) n.4376C>G c.828G>C (p.Arg276=) c.846G>C (p.Arg282=) c.603G>C (p.Arg201=) c.636G>C (p.Arg212=) c.654G>C (p.Arg218=) | |
| 2 | g.127426209G= | CA1286883450 | PROC | c.660G= (p.Arg220=) c.121-2148G= c.762G= (p.Arg254=) n.246G= c.843G= (p.Arg281=) c.825G= (p.Arg275=) c.723G= (p.Arg241=) c.903G= (p.Arg301=) c.1005G= (p.Arg335=) c.945G= (p.Arg315=) n.4376C= c.828G= (p.Arg276=) c.846G= (p.Arg282=) c.603G= (p.Arg201=) c.636G= (p.Arg212=) c.654G= (p.Arg218=) | |
| 2 | g.127426209G>T | CA428618355 | PROC | c.660G>T (p.Arg220=) c.121-2148G>T c.762G>T (p.Arg254=) n.246G>T c.843G>T (p.Arg281=) c.825G>T (p.Arg275=) c.723G>T (p.Arg241=) c.903G>T (p.Arg301=) c.1005G>T (p.Arg335=) c.945G>T (p.Arg315=) n.4376C>A c.828G>T (p.Arg276=) c.846G>T (p.Arg282=) c.603G>T (p.Arg201=) c.636G>T (p.Arg212=) c.654G>T (p.Arg218=) | |
| 2 | g.127426210G>A | CA55348430 | PROC | c.661G>A (p.Gly221Arg) c.121-2147G>A c.763G>A (p.Gly255Arg) n.247G>A c.844G>A (p.Gly282Arg) c.826G>A (p.Gly276Arg) c.724G>A (p.Gly242Arg) c.904G>A (p.Gly302Arg) c.1006G>A (p.Gly336Arg) c.946G>A (p.Gly316Arg) n.4375C>T c.829G>A (p.Gly277Arg) c.847G>A (p.Gly283Arg) c.604G>A (p.Gly202Arg) c.637G>A (p.Gly213Arg) c.655G>A (p.Gly219Arg) | dbSNP |
| 2 | g.127426210G>C | CA348401668 | PROC | c.661G>C (p.Gly221Arg) c.121-2147G>C c.763G>C (p.Gly255Arg) n.247G>C c.844G>C (p.Gly282Arg) c.826G>C (p.Gly276Arg) c.724G>C (p.Gly242Arg) c.904G>C (p.Gly302Arg) c.1006G>C (p.Gly336Arg) c.946G>C (p.Gly316Arg) n.4375C>G c.829G>C (p.Gly277Arg) c.847G>C (p.Gly283Arg) c.604G>C (p.Gly202Arg) c.637G>C (p.Gly213Arg) c.655G>C (p.Gly219Arg) | |
| 2 | g.127426210G= | CA1286883451 | PROC | c.661G= (p.Gly221=) c.121-2147G= c.763G= (p.Gly255=) n.247G= c.844G= (p.Gly282=) c.826G= (p.Gly276=) c.724G= (p.Gly242=) c.904G= (p.Gly302=) c.1006G= (p.Gly336=) c.946G= (p.Gly316=) n.4375C= c.829G= (p.Gly277=) c.847G= (p.Gly283=) c.604G= (p.Gly202=) c.637G= (p.Gly213=) c.655G= (p.Gly219=) | |
| 2 | g.127426210G>T | CA348401671 | PROC | c.661G>T (p.Gly221Ter) c.121-2147G>T c.763G>T (p.Gly255Ter) n.247G>T c.844G>T (p.Gly282Ter) c.826G>T (p.Gly276Ter) c.724G>T (p.Gly242Ter) c.904G>T (p.Gly302Ter) c.1006G>T (p.Gly336Ter) c.946G>T (p.Gly316Ter) n.4375C>A c.829G>T (p.Gly277Ter) c.847G>T (p.Gly283Ter) c.604G>T (p.Gly202Ter) c.637G>T (p.Gly213Ter) c.655G>T (p.Gly219Ter) | |
| 2 | g.127426211G>A | CA348401679 | PROC | c.662G>A (p.Gly221Glu) c.121-2146G>A c.764G>A (p.Gly255Glu) n.248G>A c.845G>A (p.Gly282Glu) c.827G>A (p.Gly276Glu) c.725G>A (p.Gly242Glu) c.905G>A (p.Gly302Glu) c.1007G>A (p.Gly336Glu) c.947G>A (p.Gly316Glu) n.4374C>T c.830G>A (p.Gly277Glu) c.848G>A (p.Gly283Glu) c.605G>A (p.Gly202Glu) c.638G>A (p.Gly213Glu) c.656G>A (p.Gly219Glu) | |
| 2 | g.127426211G>C | CA348401674 | PROC | c.662G>C (p.Gly221Ala) c.121-2146G>C c.764G>C (p.Gly255Ala) n.248G>C c.845G>C (p.Gly282Ala) c.827G>C (p.Gly276Ala) c.725G>C (p.Gly242Ala) c.905G>C (p.Gly302Ala) c.1007G>C (p.Gly336Ala) c.947G>C (p.Gly316Ala) n.4374C>G c.830G>C (p.Gly277Ala) c.848G>C (p.Gly283Ala) c.605G>C (p.Gly202Ala) c.638G>C (p.Gly213Ala) c.656G>C (p.Gly219Ala) | |
| 2 | g.127426211G>T | CA348401677 | PROC | c.662G>T (p.Gly221Val) c.121-2146G>T c.764G>T (p.Gly255Val) n.248G>T c.845G>T (p.Gly282Val) c.827G>T (p.Gly276Val) c.725G>T (p.Gly242Val) c.905G>T (p.Gly302Val) c.1007G>T (p.Gly336Val) c.947G>T (p.Gly316Val) n.4374C>A c.830G>T (p.Gly277Val) c.848G>T (p.Gly283Val) c.605G>T (p.Gly202Val) c.638G>T (p.Gly213Val) c.656G>T (p.Gly219Val) | |
| 2 | g.127426212A= | CA1286883452 | PROC | c.663A= (p.Gly221=) c.121-2145A= c.765A= (p.Gly255=) n.249A= c.846A= (p.Gly282=) c.828A= (p.Gly276=) c.726A= (p.Gly242=) c.906A= (p.Gly302=) c.1008A= (p.Gly336=) c.948A= (p.Gly316=) n.4373T= c.831A= (p.Gly277=) c.849A= (p.Gly283=) c.606A= (p.Gly202=) c.639A= (p.Gly213=) c.657A= (p.Gly219=) | |
| 2 | g.127426212A>C | CA428618357 | PROC | c.663A>C (p.Gly221=) c.121-2145A>C c.765A>C (p.Gly255=) n.249A>C c.846A>C (p.Gly282=) c.828A>C (p.Gly276=) c.726A>C (p.Gly242=) c.906A>C (p.Gly302=) c.1008A>C (p.Gly336=) c.948A>C (p.Gly316=) n.4373T>G c.831A>C (p.Gly277=) c.849A>C (p.Gly283=) c.606A>C (p.Gly202=) c.639A>C (p.Gly213=) c.657A>C (p.Gly219=) | |
| 2 | g.127426212A>G | CA428618359 | PROC | c.663A>G (p.Gly221=) c.121-2145A>G c.765A>G (p.Gly255=) n.249A>G c.846A>G (p.Gly282=) c.828A>G (p.Gly276=) c.726A>G (p.Gly242=) c.906A>G (p.Gly302=) c.1008A>G (p.Gly336=) c.948A>G (p.Gly316=) n.4373T>C c.831A>G (p.Gly277=) c.849A>G (p.Gly283=) c.606A>G (p.Gly202=) c.639A>G (p.Gly213=) c.657A>G (p.Gly219=) | |
| 2 | g.127426212A>T | CA55348435 | PROC | c.663A>T (p.Gly221=) c.121-2145A>T c.765A>T (p.Gly255=) n.249A>T c.846A>T (p.Gly282=) c.828A>T (p.Gly276=) c.726A>T (p.Gly242=) c.906A>T (p.Gly302=) c.1008A>T (p.Gly336=) c.948A>T (p.Gly316=) n.4373T>A c.831A>T (p.Gly277=) c.849A>T (p.Gly283=) c.606A>T (p.Gly202=) c.639A>T (p.Gly213=) c.657A>T (p.Gly219=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127426213G>A | CA348401682 | PROC | c.664G>A (p.Asp222Asn) c.121-2144G>A c.766G>A (p.Asp256Asn) n.250G>A c.847G>A (p.Asp283Asn) c.829G>A (p.Asp277Asn) c.727G>A (p.Asp243Asn) c.907G>A (p.Asp303Asn) c.1009G>A (p.Asp337Asn) c.949G>A (p.Asp317Asn) n.4372C>T c.832G>A (p.Asp278Asn) c.850G>A (p.Asp284Asn) c.607G>A (p.Asp203Asn) c.640G>A (p.Asp214Asn) c.658G>A (p.Asp220Asn) | gnomAD v4 |
| 2 | g.127426213G>C | CA348401691 | PROC | c.664G>C (p.Asp222His) c.121-2144G>C c.766G>C (p.Asp256His) n.250G>C c.847G>C (p.Asp283His) c.829G>C (p.Asp277His) c.727G>C (p.Asp243His) c.907G>C (p.Asp303His) c.1009G>C (p.Asp337His) c.949G>C (p.Asp317His) n.4372C>G c.832G>C (p.Asp278His) c.850G>C (p.Asp284His) c.607G>C (p.Asp203His) c.640G>C (p.Asp214His) c.658G>C (p.Asp220His) | |
| 2 | g.127426213G>T | CA348401694 | PROC | c.664G>T (p.Asp222Tyr) c.121-2144G>T c.766G>T (p.Asp256Tyr) n.250G>T c.847G>T (p.Asp283Tyr) c.829G>T (p.Asp277Tyr) c.727G>T (p.Asp243Tyr) c.907G>T (p.Asp303Tyr) c.1009G>T (p.Asp337Tyr) c.949G>T (p.Asp317Tyr) n.4372C>A c.832G>T (p.Asp278Tyr) c.850G>T (p.Asp284Tyr) c.607G>T (p.Asp203Tyr) c.640G>T (p.Asp214Tyr) c.658G>T (p.Asp220Tyr) | |
| 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=) | 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) |