Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.38351145_38351148del | CA2627716205 | SPRED1 | c.816_819del (p.Arg273MetfsTer29) c.852_855del (p.Arg285MetfsTer29) c.594_597del (p.Arg199MetfsTer29) c.753_756del (p.Arg252MetfsTer29) | gnomAD v4 |
15 | g.38351144A>C | CA391933312 | SPRED1 | c.815A>C (p.Glu272Ala) c.851A>C (p.Glu284Ala) c.593A>C (p.Glu198Ala) c.752A>C (p.Glu251Ala) | |
15 | g.38351144A>G | CA391933313 | SPRED1 | c.815A>G (p.Glu272Gly) c.851A>G (p.Glu284Gly) c.593A>G (p.Glu198Gly) c.752A>G (p.Glu251Gly) | |
15 | g.38351144A>T | CA391933314 | SPRED1 | c.815A>T (p.Glu272Val) c.851A>T (p.Glu284Val) c.593A>T (p.Glu198Val) c.752A>T (p.Glu251Val) | |
15 | g.38351145A>C | CA391933315 | SPRED1 | c.816A>C (p.Glu272Asp) c.852A>C (p.Glu284Asp) c.594A>C (p.Glu198Asp) c.753A>C (p.Glu251Asp) | |
15 | g.38351145A>G | CA490011789 | SPRED1 | c.816A>G (p.Glu272=) c.852A>G (p.Glu284=) c.594A>G (p.Glu198=) c.753A>G (p.Glu251=) | |
15 | g.38351145A>T | CA391933316 | SPRED1 | c.816A>T (p.Glu272Asp) c.852A>T (p.Glu284Asp) c.594A>T (p.Glu198Asp) c.753A>T (p.Glu251Asp) | |
15 | g.38351146A= | CA2170812589 | SPRED1 | c.817A= (p.Arg273=) c.853A= (p.Arg285=) c.595A= (p.Arg199=) c.754A= (p.Arg252=) | |
15 | g.38351146A>C | CA490011791 | SPRED1 | c.817A>C (p.Arg273=) c.853A>C (p.Arg285=) c.595A>C (p.Arg199=) c.754A>C (p.Arg252=) | |
15 | g.38351146A>G | CA269293443 | SPRED1 | c.817A>G (p.Arg273Gly) c.853A>G (p.Arg285Gly) c.595A>G (p.Arg199Gly) c.754A>G (p.Arg252Gly) | dbSNP gnomAD v4 |
15 | g.38351146A>T | CA391933317 | SPRED1 | c.817A>T (p.Arg273Ter) c.853A>T (p.Arg285Ter) c.595A>T (p.Arg199Ter) c.754A>T (p.Arg252Ter) | |
15 | g.38351147G>A | CA391933318 | SPRED1 | c.818G>A (p.Arg273Lys) c.854G>A (p.Arg285Lys) c.596G>A (p.Arg199Lys) c.755G>A (p.Arg252Lys) | |
15 | g.38351147G>C | CA269293444 | SPRED1 | c.818G>C (p.Arg273Thr) c.854G>C (p.Arg285Thr) c.596G>C (p.Arg199Thr) c.755G>C (p.Arg252Thr) | dbSNP |
15 | g.38351147G= | CA2170812590 | SPRED1 | c.818G= (p.Arg273=) c.854G= (p.Arg285=) c.596G= (p.Arg199=) c.755G= (p.Arg252=) | |
15 | g.38351147G>T | CA391933319 | SPRED1 | c.818G>T (p.Arg273Ile) c.854G>T (p.Arg285Ile) c.596G>T (p.Arg199Ile) c.755G>T (p.Arg252Ile) | COSMIC |
15 | g.38351148A>C | CA391933320 | SPRED1 | c.819A>C (p.Arg273Ser) c.855A>C (p.Arg285Ser) c.597A>C (p.Arg199Ser) c.756A>C (p.Arg252Ser) | |
15 | g.38351148A>G | CA490011795 | SPRED1 | c.819A>G (p.Arg273=) c.855A>G (p.Arg285=) c.597A>G (p.Arg199=) c.756A>G (p.Arg252=) | |
15 | g.38351148A>T | CA391933321 | SPRED1 | c.819A>T (p.Arg273Ser) c.855A>T (p.Arg285Ser) c.597A>T (p.Arg199Ser) c.756A>T (p.Arg252Ser) | |
15 | g.38351149G>A | CA391933322 | SPRED1 | c.820G>A (p.Asp274Asn) c.856G>A (p.Asp286Asn) c.598G>A (p.Asp200Asn) c.757G>A (p.Asp253Asn) | |
15 | g.38351149G>C | CA391933323 | SPRED1 | c.820G>C (p.Asp274His) c.856G>C (p.Asp286His) c.598G>C (p.Asp200His) c.757G>C (p.Asp253His) | gnomAD v4 |
15 | g.38351149G>T | CA391933324 | SPRED1 | c.820G>T (p.Asp274Tyr) c.856G>T (p.Asp286Tyr) c.598G>T (p.Asp200Tyr) c.757G>T (p.Asp253Tyr) | gnomAD v4 |
15 | g.38351150A= | CA2170812591 | SPRED1 | c.821A= (p.Asp274=) c.857A= (p.Asp286=) c.599A= (p.Asp200=) c.758A= (p.Asp253=) | |
15 | g.38351150A>C | CA391933325 | SPRED1 | c.821A>C (p.Asp274Ala) c.857A>C (p.Asp286Ala) c.599A>C (p.Asp200Ala) c.758A>C (p.Asp253Ala) | COSMIC |
15 | g.38351150A>G | CA269293445 | SPRED1 | c.821A>G (p.Asp274Gly) c.857A>G (p.Asp286Gly) c.599A>G (p.Asp200Gly) c.758A>G (p.Asp253Gly) | dbSNP gnomAD v4 |
15 | g.38351150A>T | CA391933326 | SPRED1 | c.821A>T (p.Asp274Val) c.857A>T (p.Asp286Val) c.599A>T (p.Asp200Val) c.758A>T (p.Asp253Val) | |
15 | g.38351151T>A | CA391933327 | SPRED1 | c.822T>A (p.Asp274Glu) c.858T>A (p.Asp286Glu) c.600T>A (p.Asp200Glu) c.759T>A (p.Asp253Glu) | |
15 | g.38351151T>C | CA490011800 | SPRED1 | c.822T>C (p.Asp274=) c.858T>C (p.Asp286=) c.600T>C (p.Asp200=) c.759T>C (p.Asp253=) | |
15 | g.38351151T>G | CA391933328 | SPRED1 | c.822T>G (p.Asp274Glu) c.858T>G (p.Asp286Glu) c.600T>G (p.Asp200Glu) c.759T>G (p.Asp253Glu) | |
15 | g.38351152G>A | CA391933329 | SPRED1 | c.823G>A (p.Asp275Asn) c.859G>A (p.Asp287Asn) c.601G>A (p.Asp201Asn) c.760G>A (p.Asp254Asn) | |
15 | g.38351152G>C | CA391933330 | SPRED1 | c.823G>C (p.Asp275His) c.859G>C (p.Asp287His) c.601G>C (p.Asp201His) c.760G>C (p.Asp254His) | |
15 | g.38351152G= | CA2170812592 | SPRED1 | c.823G= (p.Asp275=) c.859G= (p.Asp287=) c.601G= (p.Asp201=) c.760G= (p.Asp254=) | |
15 | g.38351152G>T | CA7470189 | SPRED1 | c.823G>T (p.Asp275Tyr) c.859G>T (p.Asp287Tyr) c.601G>T (p.Asp201Tyr) c.760G>T (p.Asp254Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38351153A>C | CA391933333 | SPRED1 | c.824A>C (p.Asp275Ala) c.860A>C (p.Asp287Ala) c.602A>C (p.Asp201Ala) c.761A>C (p.Asp254Ala) | |
15 | g.38351153A>G | CA391933332 | SPRED1 | c.824A>G (p.Asp275Gly) c.860A>G (p.Asp287Gly) c.602A>G (p.Asp201Gly) c.761A>G (p.Asp254Gly) | |
15 | g.38351153A>T | CA391933331 | SPRED1 | c.824A>T (p.Asp275Val) c.860A>T (p.Asp287Val) c.602A>T (p.Asp201Val) c.761A>T (p.Asp254Val) | |
15 | g.38351154T>A | CA391933334 | SPRED1 | c.825T>A (p.Asp275Glu) c.861T>A (p.Asp287Glu) c.603T>A (p.Asp201Glu) c.762T>A (p.Asp254Glu) | |
15 | g.38351154T>C | CA490011803 | SPRED1 | c.825T>C (p.Asp275=) c.861T>C (p.Asp287=) c.603T>C (p.Asp201=) c.762T>C (p.Asp254=) | |
15 | g.38351154T>G | CA391933335 | SPRED1 | c.825T>G (p.Asp275Glu) c.861T>G (p.Asp287Glu) c.603T>G (p.Asp201Glu) c.762T>G (p.Asp254Glu) | |
15 | g.38351155G>A | CA391933336 | SPRED1 | c.826G>A (p.Ala276Thr) c.862G>A (p.Ala288Thr) c.604G>A (p.Ala202Thr) c.763G>A (p.Ala255Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351155G>C | CA391933337 | SPRED1 | c.826G>C (p.Ala276Pro) c.862G>C (p.Ala288Pro) c.604G>C (p.Ala202Pro) c.763G>C (p.Ala255Pro) | |
15 | g.38351155G= | CA2170812593 | SPRED1 | c.826G= (p.Ala276=) c.862G= (p.Ala288=) c.604G= (p.Ala202=) c.763G= (p.Ala255=) | |
15 | g.38351155G>T | CA391933338 | SPRED1 | c.826G>T (p.Ala276Ser) c.862G>T (p.Ala288Ser) c.604G>T (p.Ala202Ser) c.763G>T (p.Ala255Ser) | |
15 | g.38351156C>A | CA391933339 | SPRED1 | c.827C>A (p.Ala276Asp) c.863C>A (p.Ala288Asp) c.605C>A (p.Ala202Asp) c.764C>A (p.Ala255Asp) | |
15 | g.38351156C>G | CA391933340 | SPRED1 | c.827C>G (p.Ala276Gly) c.863C>G (p.Ala288Gly) c.605C>G (p.Ala202Gly) c.764C>G (p.Ala255Gly) | |
15 | g.38351156C>T | CA391933341 | SPRED1 | c.827C>T (p.Ala276Val) c.863C>T (p.Ala288Val) c.605C>T (p.Ala202Val) c.764C>T (p.Ala255Val) | |
15 | g.38351157T>A | CA490011808 | SPRED1 | c.828T>A (p.Ala276=) c.864T>A (p.Ala288=) c.606T>A (p.Ala202=) c.765T>A (p.Ala255=) | |
15 | g.38351157T>C | CA490011809 | SPRED1 | c.828T>C (p.Ala276=) c.864T>C (p.Ala288=) c.606T>C (p.Ala202=) c.765T>C (p.Ala255=) | |
15 | g.38351157T>G | CA490011810 | SPRED1 | c.828T>G (p.Ala276=) c.864T>G (p.Ala288=) c.606T>G (p.Ala202=) c.765T>G (p.Ala255=) | |
15 | g.38351158G>A | CA269293446 | SPRED1 | c.829G>A (p.Asp277Asn) c.865G>A (p.Asp289Asn) c.607G>A (p.Asp203Asn) c.766G>A (p.Asp256Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351158G>C | CA391933342 | SPRED1 | c.829G>C (p.Asp277His) c.865G>C (p.Asp289His) c.607G>C (p.Asp203His) c.766G>C (p.Asp256His) | |
15 | g.38351158G= | CA2170812594 | SPRED1 | c.829G= (p.Asp277=) c.865G= (p.Asp289=) c.607G= (p.Asp203=) c.766G= (p.Asp256=) | |
15 | g.38351158G>T | CA391933343 | SPRED1 | c.829G>T (p.Asp277Tyr) c.865G>T (p.Asp289Tyr) c.607G>T (p.Asp203Tyr) c.766G>T (p.Asp256Tyr) | |
15 | g.38351159A>C | CA391933344 | SPRED1 | c.830A>C (p.Asp277Ala) c.866A>C (p.Asp289Ala) c.608A>C (p.Asp203Ala) c.767A>C (p.Asp256Ala) | |
15 | g.38351159A>G | CA391933345 | SPRED1 | c.830A>G (p.Asp277Gly) c.866A>G (p.Asp289Gly) c.608A>G (p.Asp203Gly) c.767A>G (p.Asp256Gly) | |
15 | g.38351159A>T | CA391933346 | SPRED1 | c.830A>T (p.Asp277Val) c.866A>T (p.Asp289Val) c.608A>T (p.Asp203Val) c.767A>T (p.Asp256Val) | |
15 | g.38351160T>A | CA391933348 | SPRED1 | c.831T>A (p.Asp277Glu) c.867T>A (p.Asp289Glu) c.609T>A (p.Asp203Glu) c.768T>A (p.Asp256Glu) | |
15 | g.38351160T>C | CA490011815 | SPRED1 | c.831T>C (p.Asp277=) c.867T>C (p.Asp289=) c.609T>C (p.Asp203=) c.768T>C (p.Asp256=) | |
15 | g.38351160T>G | CA391933347 | SPRED1 | c.831T>G (p.Asp277Glu) c.867T>G (p.Asp289Glu) c.609T>G (p.Asp203Glu) c.768T>G (p.Asp256Glu) | |
15 | g.38351161dup | CA658761235 | SPRED1 | c.832dup (p.Ser278PhefsTer7) c.868dup (p.Ser290PhefsTer7) c.610dup (p.Ser204PhefsTer7) c.769dup (p.Ser257PhefsTer7) | gnomAD v4 |
15 | g.38351161T>A | CA391933349 | SPRED1 | c.832T>A (p.Ser278Thr) c.868T>A (p.Ser290Thr) c.610T>A (p.Ser204Thr) c.769T>A (p.Ser257Thr) | |
15 | g.38351161T>C | CA391933350 | SPRED1 | c.832T>C (p.Ser278Pro) c.868T>C (p.Ser290Pro) c.610T>C (p.Ser204Pro) c.769T>C (p.Ser257Pro) | |
15 | g.38351161T>G | CA391933351 | SPRED1 | c.832T>G (p.Ser278Ala) c.868T>G (p.Ser290Ala) c.610T>G (p.Ser204Ala) c.769T>G (p.Ser257Ala) | |
15 | g.38351162C>A | CA391933352 | SPRED1 | c.833C>A (p.Ser278Tyr) c.869C>A (p.Ser290Tyr) c.611C>A (p.Ser204Tyr) c.770C>A (p.Ser257Tyr) | |
15 | g.38351162C>G | CA391933353 | SPRED1 | c.833C>G (p.Ser278Cys) c.869C>G (p.Ser290Cys) c.611C>G (p.Ser204Cys) c.770C>G (p.Ser257Cys) | |
15 | g.38351162C>T | CA391933354 | SPRED1 | c.833C>T (p.Ser278Phe) c.869C>T (p.Ser290Phe) c.611C>T (p.Ser204Phe) c.770C>T (p.Ser257Phe) | |
15 | g.38351163C>A | CA490011818 | SPRED1 | c.834C>A (p.Ser278=) c.870C>A (p.Ser290=) c.612C>A (p.Ser204=) c.771C>A (p.Ser257=) | |
15 | g.38351163C>G | CA490011820 | SPRED1 | c.834C>G (p.Ser278=) c.870C>G (p.Ser290=) c.612C>G (p.Ser204=) c.771C>G (p.Ser257=) | |
15 | g.38351163C>T | CA490011821 | SPRED1 | c.834C>T (p.Ser278=) c.870C>T (p.Ser290=) c.612C>T (p.Ser204=) c.771C>T (p.Ser257=) | |
15 | g.38351164A= | CA2170812595 | SPRED1 | c.835A= (p.Ser279=) c.871A= (p.Ser291=) c.613A= (p.Ser205=) c.772A= (p.Ser258=) | |
15 | g.38351164A>C | CA391933355 | SPRED1 | c.835A>C (p.Ser279Arg) c.871A>C (p.Ser291Arg) c.613A>C (p.Ser205Arg) c.772A>C (p.Ser258Arg) | |
15 | g.38351164A>G | CA7470190 | SPRED1 | c.835A>G (p.Ser279Gly) c.871A>G (p.Ser291Gly) c.613A>G (p.Ser205Gly) c.772A>G (p.Ser258Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38351164A>T | CA391933356 | SPRED1 | c.835A>T (p.Ser279Cys) c.871A>T (p.Ser291Cys) c.613A>T (p.Ser205Cys) c.772A>T (p.Ser258Cys) | |
15 | g.38351165G>A | CA269293447 | SPRED1 | c.836G>A (p.Ser279Asn) c.872G>A (p.Ser291Asn) c.614G>A (p.Ser205Asn) c.773G>A (p.Ser258Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351165G>C | CA391933357 | SPRED1 | c.836G>C (p.Ser279Thr) c.872G>C (p.Ser291Thr) c.614G>C (p.Ser205Thr) c.773G>C (p.Ser258Thr) | gnomAD v4 |
15 | g.38351165G= | CA2170812596 | SPRED1 | c.836G= (p.Ser279=) c.872G= (p.Ser291=) c.614G= (p.Ser205=) c.773G= (p.Ser258=) | |
15 | g.38351165G>T | CA391933358 | SPRED1 | c.836G>T (p.Ser279Ile) c.872G>T (p.Ser291Ile) c.614G>T (p.Ser205Ile) c.773G>T (p.Ser258Ile) | dbSNP |
15 | g.38351166T>A | CA391933360 | SPRED1 | c.837T>A (p.Ser279Arg) c.873T>A (p.Ser291Arg) c.615T>A (p.Ser205Arg) c.774T>A (p.Ser258Arg) | dbSNP |
15 | g.38351166T>C | CA490011827 | SPRED1 | c.837T>C (p.Ser279=) c.873T>C (p.Ser291=) c.615T>C (p.Ser205=) c.774T>C (p.Ser258=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351166T>G | CA391933359 | SPRED1 | c.837T>G (p.Ser279Arg) c.873T>G (p.Ser291Arg) c.615T>G (p.Ser205Arg) c.774T>G (p.Ser258Arg) | |
15 | g.38351166T= | CA2170812597 | SPRED1 | c.837T= (p.Ser279=) c.873T= (p.Ser291=) c.615T= (p.Ser205=) c.774T= (p.Ser258=) | |
15 | g.38351167A= | CA2170812598 | SPRED1 | c.838A= (p.Ile280=) c.874A= (p.Ile292=) c.616A= (p.Ile206=) c.775A= (p.Ile259=) | |
15 | g.38351167A>C | CA391933361 | SPRED1 | c.838A>C (p.Ile280Leu) c.874A>C (p.Ile292Leu) c.616A>C (p.Ile206Leu) c.775A>C (p.Ile259Leu) | |
15 | g.38351167A>G | CA391933362 | SPRED1 | c.838A>G (p.Ile280Val) c.874A>G (p.Ile292Val) c.616A>G (p.Ile206Val) c.775A>G (p.Ile259Val) | dbSNP gnomAD v4 |
15 | g.38351167A>T | CA391933363 | SPRED1 | c.838A>T (p.Ile280Phe) c.874A>T (p.Ile292Phe) c.616A>T (p.Ile206Phe) c.775A>T (p.Ile259Phe) | |
15 | g.38351168T>A | CA391933364 | SPRED1 | c.839T>A (p.Ile280Asn) c.875T>A (p.Ile292Asn) c.617T>A (p.Ile206Asn) c.776T>A (p.Ile259Asn) | |
15 | g.38351168T>C | CA391933365 | SPRED1 | c.839T>C (p.Ile280Thr) c.875T>C (p.Ile292Thr) c.617T>C (p.Ile206Thr) c.776T>C (p.Ile259Thr) | |
15 | g.38351168T>G | CA391933366 | SPRED1 | c.839T>G (p.Ile280Ser) c.875T>G (p.Ile292Ser) c.617T>G (p.Ile206Ser) c.776T>G (p.Ile259Ser) | |
15 | g.38351169T>A | CA490011835 | SPRED1 | c.840T>A (p.Ile280=) c.876T>A (p.Ile292=) c.618T>A (p.Ile206=) c.777T>A (p.Ile259=) | |
15 | g.38351169T>C | CA490011834 | SPRED1 | c.840T>C (p.Ile280=) c.876T>C (p.Ile292=) c.618T>C (p.Ile206=) c.777T>C (p.Ile259=) | |
15 | g.38351169T>G | CA391933367 | SPRED1 | c.840T>G (p.Ile280Met) c.876T>G (p.Ile292Met) c.618T>G (p.Ile206Met) c.777T>G (p.Ile259Met) | |
15 | g.38351170C>A | CA391933368 | SPRED1 | c.841C>A (p.Gln281Lys) c.877C>A (p.Gln293Lys) c.619C>A (p.Gln207Lys) c.778C>A (p.Gln260Lys) | |
15 | g.38351170C= | CA2170812599 | SPRED1 | c.841C= (p.Gln281=) c.877C= (p.Gln293=) c.619C= (p.Gln207=) c.778C= (p.Gln260=) | |
15 | g.38351170C>G | CA391933369 | SPRED1 | c.841C>G (p.Gln281Glu) c.877C>G (p.Gln293Glu) c.619C>G (p.Gln207Glu) c.778C>G (p.Gln260Glu) | |
15 | g.38351170C>T | CA7470191 | SPRED1 | c.841C>T (p.Gln281Ter) c.877C>T (p.Gln293Ter) c.619C>T (p.Gln207Ter) c.778C>T (p.Gln260Ter) | ClinVar dbSNP ExAC |
15 | g.38351171A= | CA2170812600 | SPRED1 | c.842A= (p.Gln281=) c.878A= (p.Gln293=) c.620A= (p.Gln207=) c.779A= (p.Gln260=) | |
15 | g.38351171A>C | CA391933370 | SPRED1 | c.842A>C (p.Gln281Pro) c.878A>C (p.Gln293Pro) c.620A>C (p.Gln207Pro) c.779A>C (p.Gln260Pro) | |
15 | g.38351171A>G | CA391933371 | SPRED1 | c.842A>G (p.Gln281Arg) c.878A>G (p.Gln293Arg) c.620A>G (p.Gln207Arg) c.779A>G (p.Gln260Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351171A>T | CA391933372 | SPRED1 | c.842A>T (p.Gln281Leu) c.878A>T (p.Gln293Leu) c.620A>T (p.Gln207Leu) c.779A>T (p.Gln260Leu) | |
15 | g.38351172G>A | CA490011838 | SPRED1 | c.843G>A (p.Gln281=) c.879G>A (p.Gln293=) c.621G>A (p.Gln207=) c.780G>A (p.Gln260=) | ClinVar dbSNP |
15 | g.38351172G>C | CA391933374 | SPRED1 | c.843G>C (p.Gln281His) c.879G>C (p.Gln293His) c.621G>C (p.Gln207His) c.780G>C (p.Gln260His) | gnomAD v4 |
15 | g.38351172G= | CA2170812601 | SPRED1 | c.843G= (p.Gln281=) c.879G= (p.Gln293=) c.621G= (p.Gln207=) c.780G= (p.Gln260=) | |
15 | g.38351172G>T | CA391933373 | SPRED1 | c.843G>T (p.Gln281His) c.879G>T (p.Gln293His) c.621G>T (p.Gln207His) c.780G>T (p.Gln260His) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351173T>A | CA391933375 | SPRED1 | c.844T>A (p.Phe282Ile) c.880T>A (p.Phe294Ile) c.622T>A (p.Phe208Ile) c.781T>A (p.Phe261Ile) | |
15 | g.38351173T>C | CA391933376 | SPRED1 | c.844T>C (p.Phe282Leu) c.880T>C (p.Phe294Leu) c.622T>C (p.Phe208Leu) c.781T>C (p.Phe261Leu) | |
15 | g.38351173T>G | CA391933377 | SPRED1 | c.844T>G (p.Phe282Val) c.880T>G (p.Phe294Val) c.622T>G (p.Phe208Val) c.781T>G (p.Phe261Val) | |
15 | g.38351174T>A | CA391933378 | SPRED1 | c.845T>A (p.Phe282Tyr) c.881T>A (p.Phe294Tyr) c.623T>A (p.Phe208Tyr) c.782T>A (p.Phe261Tyr) | |
15 | g.38351174T>C | CA391933379 | SPRED1 | c.845T>C (p.Phe282Ser) c.881T>C (p.Phe294Ser) c.623T>C (p.Phe208Ser) c.782T>C (p.Phe261Ser) | |
15 | g.38351174T>G | CA391933380 | SPRED1 | c.845T>G (p.Phe282Cys) c.881T>G (p.Phe294Cys) c.623T>G (p.Phe208Cys) c.782T>G (p.Phe261Cys) | |
15 | g.38351175T>A | CA391933381 | SPRED1 | c.846T>A (p.Phe282Leu) c.882T>A (p.Phe294Leu) c.624T>A (p.Phe208Leu) c.783T>A (p.Phe261Leu) | |
15 | g.38351175T>C | CA490011844 | SPRED1 | c.846T>C (p.Phe282=) c.882T>C (p.Phe294=) c.624T>C (p.Phe208=) c.783T>C (p.Phe261=) | |
15 | g.38351175T>G | CA391933382 | SPRED1 | c.846T>G (p.Phe282Leu) c.882T>G (p.Phe294Leu) c.624T>G (p.Phe208Leu) c.783T>G (p.Phe261Leu) | |
15 | g.38351176T>A | CA391933383 | SPRED1 | c.847T>A (p.Ser283Thr) c.883T>A (p.Ser295Thr) c.625T>A (p.Ser209Thr) c.784T>A (p.Ser262Thr) | |
15 | g.38351176T>C | CA391933384 | SPRED1 | c.847T>C (p.Ser283Pro) c.883T>C (p.Ser295Pro) c.625T>C (p.Ser209Pro) c.784T>C (p.Ser262Pro) | |
15 | g.38351176T>G | CA391933385 | SPRED1 | c.847T>G (p.Ser283Ala) c.883T>G (p.Ser295Ala) c.625T>G (p.Ser209Ala) c.784T>G (p.Ser262Ala) | gnomAD v4 |
15 | g.38351177C>A | CA391933386 | SPRED1 | c.848C>A (p.Ser283Tyr) c.884C>A (p.Ser295Tyr) c.626C>A (p.Ser209Tyr) c.785C>A (p.Ser262Tyr) | |
15 | g.38351177C>G | CA391933387 | SPRED1 | c.848C>G (p.Ser283Cys) c.884C>G (p.Ser295Cys) c.626C>G (p.Ser209Cys) c.785C>G (p.Ser262Cys) | |
15 | g.38351177C>T | CA391933388 | SPRED1 | c.848C>T (p.Ser283Phe) c.884C>T (p.Ser295Phe) c.626C>T (p.Ser209Phe) c.785C>T (p.Ser262Phe) | |
15 | g.38351178T>A | CA490011849 | SPRED1 | c.849T>A (p.Ser283=) c.885T>A (p.Ser295=) c.627T>A (p.Ser209=) c.786T>A (p.Ser262=) | |
15 | g.38351178T>C | CA490011850 | SPRED1 | c.849T>C (p.Ser283=) c.885T>C (p.Ser295=) c.627T>C (p.Ser209=) c.786T>C (p.Ser262=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351178T>G | CA490011851 | SPRED1 | c.849T>G (p.Ser283=) c.885T>G (p.Ser295=) c.627T>G (p.Ser209=) c.786T>G (p.Ser262=) | dbSNP gnomAD v4 |
15 | g.38351178T= | CA2170812602 | SPRED1 | c.849T= (p.Ser283=) c.885T= (p.Ser295=) c.627T= (p.Ser209=) c.786T= (p.Ser262=) | |
15 | g.38351179A>C | CA391933391 | SPRED1 | c.850A>C (p.Lys284Gln) c.886A>C (p.Lys296Gln) c.628A>C (p.Lys210Gln) c.787A>C (p.Lys263Gln) | |
15 | g.38351179A>G | CA391933390 | SPRED1 | c.850A>G (p.Lys284Glu) c.886A>G (p.Lys296Glu) c.628A>G (p.Lys210Glu) c.787A>G (p.Lys263Glu) | |
15 | g.38351179A>T | CA391933389 | SPRED1 | c.850A>T (p.Lys284Ter) c.886A>T (p.Lys296Ter) c.628A>T (p.Lys210Ter) c.787A>T (p.Lys263Ter) | |
15 | g.38351180A>C | CA391933393 | SPRED1 | c.851A>C (p.Lys284Thr) c.887A>C (p.Lys296Thr) c.629A>C (p.Lys210Thr) c.788A>C (p.Lys263Thr) | |
15 | g.38351180A>G | CA391933392 | SPRED1 | c.851A>G (p.Lys284Arg) c.887A>G (p.Lys296Arg) c.629A>G (p.Lys210Arg) c.788A>G (p.Lys263Arg) | |
15 | g.38351180A>T | CA391933394 | SPRED1 | c.851A>T (p.Lys284Ile) c.887A>T (p.Lys296Ile) c.629A>T (p.Lys210Ile) c.788A>T (p.Lys263Ile) | |
15 | g.38351181A= | CA2170812603 | SPRED1 | c.852A= (p.Lys284=) c.888A= (p.Lys296=) c.630A= (p.Lys210=) c.789A= (p.Lys263=) | |
15 | g.38351181A>C | CA391933395 | SPRED1 | c.852A>C (p.Lys284Asn) c.888A>C (p.Lys296Asn) c.630A>C (p.Lys210Asn) c.789A>C (p.Lys263Asn) | dbSNP gnomAD v2 |
15 | g.38351181A>G | CA490011854 | SPRED1 | c.852A>G (p.Lys284=) c.888A>G (p.Lys296=) c.630A>G (p.Lys210=) c.789A>G (p.Lys263=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351181A>T | CA391933396 | SPRED1 | c.852A>T (p.Lys284Asn) c.888A>T (p.Lys296Asn) c.630A>T (p.Lys210Asn) c.789A>T (p.Lys263Asn) | |
15 | g.38351182C>A | CA391933397 | SPRED1 | c.853C>A (p.Pro285Thr) c.889C>A (p.Pro297Thr) c.631C>A (p.Pro211Thr) c.790C>A (p.Pro264Thr) | gnomAD v4 |
15 | g.38351182C>G | CA391933398 | SPRED1 | c.853C>G (p.Pro285Ala) c.889C>G (p.Pro297Ala) c.631C>G (p.Pro211Ala) c.790C>G (p.Pro264Ala) | |
15 | g.38351182C>T | CA391933399 | SPRED1 | c.853C>T (p.Pro285Ser) c.889C>T (p.Pro297Ser) c.631C>T (p.Pro211Ser) c.790C>T (p.Pro264Ser) | |
15 | g.38351183C>A | CA391933400 | SPRED1 | c.854C>A (p.Pro285Gln) c.890C>A (p.Pro297Gln) c.632C>A (p.Pro211Gln) c.791C>A (p.Pro264Gln) | |
15 | g.38351183C= | CA2170812604 | SPRED1 | c.854C= (p.Pro285=) c.890C= (p.Pro297=) c.632C= (p.Pro211=) c.791C= (p.Pro264=) | |
15 | g.38351183C>G | CA391933401 | SPRED1 | c.854C>G (p.Pro285Arg) c.890C>G (p.Pro297Arg) c.632C>G (p.Pro211Arg) c.791C>G (p.Pro264Arg) | |
15 | g.38351183C>T | CA269293448 | SPRED1 | c.854C>T (p.Pro285Leu) c.890C>T (p.Pro297Leu) c.632C>T (p.Pro211Leu) c.791C>T (p.Pro264Leu) | ClinVar dbSNP |
15 | g.38351184A>C | CA490011858 | SPRED1 | c.855A>C (p.Pro285=) c.891A>C (p.Pro297=) c.633A>C (p.Pro211=) c.792A>C (p.Pro264=) | |
15 | g.38351184A>G | CA490011859 | SPRED1 | c.855A>G (p.Pro285=) c.891A>G (p.Pro297=) c.633A>G (p.Pro211=) c.792A>G (p.Pro264=) | |
15 | g.38351184A>T | CA490011860 | SPRED1 | c.855A>T (p.Pro285=) c.891A>T (p.Pro297=) c.633A>T (p.Pro211=) c.792A>T (p.Pro264=) | |
15 | g.38351185G>A | CA391933402 | SPRED1 | c.856G>A (p.Asp286Asn) c.892G>A (p.Asp298Asn) c.634G>A (p.Asp212Asn) c.793G>A (p.Asp265Asn) | ClinVar dbSNP |
15 | g.38351185G>C | CA391933403 | SPRED1 | c.856G>C (p.Asp286His) c.892G>C (p.Asp298His) c.634G>C (p.Asp212His) c.793G>C (p.Asp265His) | gnomAD v4 |
15 | g.38351185G>T | CA391933404 | SPRED1 | c.856G>T (p.Asp286Tyr) c.892G>T (p.Asp298Tyr) c.634G>T (p.Asp212Tyr) c.793G>T (p.Asp265Tyr) | |
15 | g.38351186A>C | CA391933405 | SPRED1 | c.857A>C (p.Asp286Ala) c.893A>C (p.Asp298Ala) c.635A>C (p.Asp212Ala) c.794A>C (p.Asp265Ala) | |
15 | g.38351186A>G | CA391933406 | SPRED1 | c.857A>G (p.Asp286Gly) c.893A>G (p.Asp298Gly) c.635A>G (p.Asp212Gly) c.794A>G (p.Asp265Gly) | |
15 | g.38351186A>T | CA391933407 | SPRED1 | c.857A>T (p.Asp286Val) c.893A>T (p.Asp298Val) c.635A>T (p.Asp212Val) c.794A>T (p.Asp265Val) | |
15 | g.38351187C>A | CA391933408 | SPRED1 | c.858C>A (p.Asp286Glu) c.894C>A (p.Asp298Glu) c.636C>A (p.Asp212Glu) c.795C>A (p.Asp265Glu) | |
15 | g.38351187C= | CA2170812605 | SPRED1 | c.858C= (p.Asp286=) c.894C= (p.Asp298=) c.636C= (p.Asp212=) c.795C= (p.Asp265=) | |
15 | g.38351187C>G | CA391933409 | SPRED1 | c.858C>G (p.Asp286Glu) c.894C>G (p.Asp298Glu) c.636C>G (p.Asp212Glu) c.795C>G (p.Asp265Glu) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351187C>T | CA490011865 | SPRED1 | c.858C>T (p.Asp286=) c.894C>T (p.Asp298=) c.636C>T (p.Asp212=) c.795C>T (p.Asp265=) | |
15 | g.38351188A>C | CA391933410 | SPRED1 | c.859A>C (p.Ser287Arg) c.895A>C (p.Ser299Arg) c.637A>C (p.Ser213Arg) c.796A>C (p.Ser266Arg) | |
15 | g.38351188A>G | CA391933411 | SPRED1 | c.859A>G (p.Ser287Gly) c.895A>G (p.Ser299Gly) c.637A>G (p.Ser213Gly) c.796A>G (p.Ser266Gly) | gnomAD v4 |
15 | g.38351188A>T | CA391933412 | SPRED1 | c.859A>T (p.Ser287Cys) c.895A>T (p.Ser299Cys) c.637A>T (p.Ser213Cys) c.796A>T (p.Ser266Cys) | |
15 | g.38351189G>A | CA391933413 | SPRED1 | c.860G>A (p.Ser287Asn) c.896G>A (p.Ser299Asn) c.638G>A (p.Ser213Asn) c.797G>A (p.Ser266Asn) | ClinVar gnomAD v4 |
15 | g.38351189G>C | CA391933414 | SPRED1 | c.860G>C (p.Ser287Thr) c.896G>C (p.Ser299Thr) c.638G>C (p.Ser213Thr) c.797G>C (p.Ser266Thr) | |
15 | g.38351189G>T | CA391933415 | SPRED1 | c.860G>T (p.Ser287Ile) c.896G>T (p.Ser299Ile) c.638G>T (p.Ser213Ile) c.797G>T (p.Ser266Ile) | |
15 | g.38351190T>A | CA391933416 | SPRED1 | c.861T>A (p.Ser287Arg) c.897T>A (p.Ser299Arg) c.639T>A (p.Ser213Arg) c.798T>A (p.Ser266Arg) | |
15 | g.38351190T>C | CA490011870 | SPRED1 | c.861T>C (p.Ser287=) c.897T>C (p.Ser299=) c.639T>C (p.Ser213=) c.798T>C (p.Ser266=) | ClinVar gnomAD v4 |
15 | g.38351190T>G | CA391933417 | SPRED1 | c.861T>G (p.Ser287Arg) c.897T>G (p.Ser299Arg) c.639T>G (p.Ser213Arg) c.798T>G (p.Ser266Arg) | |
15 | g.38351190T= | CA2170812606 | SPRED1 | c.861T= (p.Ser287=) c.897T= (p.Ser299=) c.639T= (p.Ser213=) c.798T= (p.Ser266=) | |
15 | g.38351191A= | CA2170812607 | SPRED1 | c.862A= (p.Lys288=) c.898A= (p.Lys300=) c.640A= (p.Lys214=) c.799A= (p.Lys267=) | |
15 | g.38351191A>C | CA391933418 | SPRED1 | c.862A>C (p.Lys288Gln) c.898A>C (p.Lys300Gln) c.640A>C (p.Lys214Gln) c.799A>C (p.Lys267Gln) | |
15 | g.38351191A>G | CA391933419 | SPRED1 | c.862A>G (p.Lys288Glu) c.898A>G (p.Lys300Glu) c.640A>G (p.Lys214Glu) c.799A>G (p.Lys267Glu) | dbSNP gnomAD v4 |
15 | g.38351191A>T | CA391933420 | SPRED1 | c.862A>T (p.Lys288Ter) c.898A>T (p.Lys300Ter) c.640A>T (p.Lys214Ter) c.799A>T (p.Lys267Ter) | |
15 | g.38351196dup | CA617561332 | SPRED1 | c.867dup (p.Ser290IlefsTer10) c.903dup (p.Ser302IlefsTer10) c.645dup (p.Ser216IlefsTer10) c.804dup (p.Ser269IlefsTer10) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351192A>C | CA391933422 | SPRED1 | c.863A>C (p.Lys288Thr) c.899A>C (p.Lys300Thr) c.641A>C (p.Lys214Thr) c.800A>C (p.Lys267Thr) | gnomAD v4 COSMIC |
15 | g.38351192A>G | CA391933423 | SPRED1 | c.863A>G (p.Lys288Arg) c.899A>G (p.Lys300Arg) c.641A>G (p.Lys214Arg) c.800A>G (p.Lys267Arg) | |
15 | g.38351192A>T | CA391933421 | SPRED1 | c.863A>T (p.Lys288Ile) c.899A>T (p.Lys300Ile) c.641A>T (p.Lys214Ile) c.800A>T (p.Lys267Ile) | |
15 | g.38351193A= | CA2170812608 | SPRED1 | c.864A= (p.Lys288=) c.900A= (p.Lys300=) c.642A= (p.Lys214=) c.801A= (p.Lys267=) | |
15 | g.38351193A>C | CA7470192 | SPRED1 | c.864A>C (p.Lys288Asn) c.900A>C (p.Lys300Asn) c.642A>C (p.Lys214Asn) c.801A>C (p.Lys267Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38351193A>G | CA490011875 | SPRED1 | c.864A>G (p.Lys288=) c.900A>G (p.Lys300=) c.642A>G (p.Lys214=) c.801A>G (p.Lys267=) | |
15 | g.38351193A>T | CA391933424 | SPRED1 | c.864A>T (p.Lys288Asn) c.900A>T (p.Lys300Asn) c.642A>T (p.Lys214Asn) c.801A>T (p.Lys267Asn) | |
15 | g.38351194A>C | CA391933425 | SPRED1 | c.865A>C (p.Lys289Gln) c.901A>C (p.Lys301Gln) c.643A>C (p.Lys215Gln) c.802A>C (p.Lys268Gln) | |
15 | g.38351194A>G | CA391933426 | SPRED1 | c.865A>G (p.Lys289Glu) c.901A>G (p.Lys301Glu) c.643A>G (p.Lys215Glu) c.802A>G (p.Lys268Glu) | |
15 | g.38351194A>T | CA391933427 | SPRED1 | c.865A>T (p.Lys289Ter) c.901A>T (p.Lys301Ter) c.643A>T (p.Lys215Ter) c.802A>T (p.Lys268Ter) | |
15 | g.38351194_38351203delinsAAATCAGACT | CA2170812609 | SPRED1 | c.865_874delinsAAATCAGACT (p.Lys289=) c.901_910delinsAAATCAGACT (p.Lys301=) c.643_652delinsAAATCAGACT (p.Lys215=) c.802_811delinsAAATCAGACT (p.Lys268=) | |
15 | g.38351195A= | CA2170812610 | SPRED1 | c.866A= (p.Lys289=) c.902A= (p.Lys301=) c.644A= (p.Lys215=) c.803A= (p.Lys268=) | |
15 | g.38351195A>C | CA7470194 | SPRED1 | c.866A>C (p.Lys289Thr) c.902A>C (p.Lys301Thr) c.644A>C (p.Lys215Thr) c.803A>C (p.Lys268Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351195A>G | CA391933428 | SPRED1 | c.866A>G (p.Lys289Arg) c.902A>G (p.Lys301Arg) c.644A>G (p.Lys215Arg) c.803A>G (p.Lys268Arg) | |
15 | g.38351195A>T | CA391933429 | SPRED1 | c.866A>T (p.Lys289Ile) c.902A>T (p.Lys301Ile) c.644A>T (p.Lys215Ile) c.803A>T (p.Lys268Ile) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351196_38351204del | CA7470193 | SPRED1 | c.867_875del (p.Lys289_Tyr292delinsAsn) c.903_911del (p.Lys301_Tyr304delinsAsn) c.645_653del (p.Lys215_Tyr218delinsAsn) c.804_812del (p.Lys268_Tyr271delinsAsn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38351196A= | CA2170812611 | SPRED1 | c.867A= (p.Lys289=) c.903A= (p.Lys301=) c.645A= (p.Lys215=) c.804A= (p.Lys268=) | |
15 | g.38351196A>C | CA391933430 | SPRED1 | c.867A>C (p.Lys289Asn) c.903A>C (p.Lys301Asn) c.645A>C (p.Lys215Asn) c.804A>C (p.Lys268Asn) | |
15 | g.38351196A>G | CA490011880 | SPRED1 | c.867A>G (p.Lys289=) c.903A>G (p.Lys301=) c.645A>G (p.Lys215=) c.804A>G (p.Lys268=) | |
15 | g.38351196A>T | CA391933431 | SPRED1 | c.867A>T (p.Lys289Asn) c.903A>T (p.Lys301Asn) c.645A>T (p.Lys215Asn) c.804A>T (p.Lys268Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351197T>A | CA391933433 | SPRED1 | c.868T>A (p.Ser290Thr) c.904T>A (p.Ser302Thr) c.646T>A (p.Ser216Thr) c.805T>A (p.Ser269Thr) | |
15 | g.38351197T>C | CA391933434 | SPRED1 | c.868T>C (p.Ser290Pro) c.904T>C (p.Ser302Pro) c.646T>C (p.Ser216Pro) c.805T>C (p.Ser269Pro) | |
15 | g.38351197T>G | CA391933432 | SPRED1 | c.868T>G (p.Ser290Ala) c.904T>G (p.Ser302Ala) c.646T>G (p.Ser216Ala) c.805T>G (p.Ser269Ala) | |
15 | g.38351198C>A | CA391933435 | SPRED1 | c.869C>A (p.Ser290Ter) c.905C>A (p.Ser302Ter) c.647C>A (p.Ser216Ter) c.806C>A (p.Ser269Ter) | |
15 | g.38351198C>G | CA391933436 | SPRED1 | c.869C>G (p.Ser290Ter) c.905C>G (p.Ser302Ter) c.647C>G (p.Ser216Ter) c.806C>G (p.Ser269Ter) | |
15 | g.38351198C>T | CA391933437 | SPRED1 | c.869C>T (p.Ser290Leu) c.905C>T (p.Ser302Leu) c.647C>T (p.Ser216Leu) c.806C>T (p.Ser269Leu) | |
15 | g.38351199A>C | CA490011888 | SPRED1 | c.870A>C (p.Ser290=) c.906A>C (p.Ser302=) c.648A>C (p.Ser216=) c.807A>C (p.Ser269=) | |
15 | g.38351199A>G | CA490011890 | SPRED1 | c.870A>G (p.Ser290=) c.906A>G (p.Ser302=) c.648A>G (p.Ser216=) c.807A>G (p.Ser269=) | |
15 | g.38351199A>T | CA490011893 | SPRED1 | c.870A>T (p.Ser290=) c.906A>T (p.Ser302=) c.648A>T (p.Ser216=) c.807A>T (p.Ser269=) | |
15 | g.38351200G>A | CA391933438 | SPRED1 | c.871G>A (p.Asp291Asn) c.907G>A (p.Asp303Asn) c.649G>A (p.Asp217Asn) c.808G>A (p.Asp270Asn) | |
15 | g.38351200G>C | CA391933439 | SPRED1 | c.871G>C (p.Asp291His) c.907G>C (p.Asp303His) c.649G>C (p.Asp217His) c.808G>C (p.Asp270His) | |
15 | g.38351200G>T | CA391933440 | SPRED1 | c.871G>T (p.Asp291Tyr) c.907G>T (p.Asp303Tyr) c.649G>T (p.Asp217Tyr) c.808G>T (p.Asp270Tyr) | |
15 | g.38351201A>C | CA391933441 | SPRED1 | c.872A>C (p.Asp291Ala) c.908A>C (p.Asp303Ala) c.650A>C (p.Asp217Ala) c.809A>C (p.Asp270Ala) | |
15 | g.38351201A>G | CA391933443 | SPRED1 | c.872A>G (p.Asp291Gly) c.908A>G (p.Asp303Gly) c.650A>G (p.Asp217Gly) c.809A>G (p.Asp270Gly) | |
15 | g.38351201A>T | CA391933442 | SPRED1 | c.872A>T (p.Asp291Val) c.908A>T (p.Asp303Val) c.650A>T (p.Asp217Val) c.809A>T (p.Asp270Val) | ClinVar |
15 | g.38351202C>A | CA391933444 | SPRED1 | c.873C>A (p.Asp291Glu) c.909C>A (p.Asp303Glu) c.651C>A (p.Asp217Glu) c.810C>A (p.Asp270Glu) | |
15 | g.38351202C>G | CA391933445 | SPRED1 | c.873C>G (p.Asp291Glu) c.909C>G (p.Asp303Glu) c.651C>G (p.Asp217Glu) c.810C>G (p.Asp270Glu) | gnomAD v4 |
15 | g.38351202C>T | CA490011903 | SPRED1 | c.873C>T (p.Asp291=) c.909C>T (p.Asp303=) c.651C>T (p.Asp217=) c.810C>T (p.Asp270=) | |
15 | g.38351203T>A | CA391933446 | SPRED1 | c.874T>A (p.Tyr292Asn) c.910T>A (p.Tyr304Asn) c.652T>A (p.Tyr218Asn) c.811T>A (p.Tyr271Asn) | |
15 | g.38351203T>C | CA391933447 | SPRED1 | c.874T>C (p.Tyr292His) c.910T>C (p.Tyr304His) c.652T>C (p.Tyr218His) c.811T>C (p.Tyr271His) | |
15 | g.38351203T>G | CA391933448 | SPRED1 | c.874T>G (p.Tyr292Asp) c.910T>G (p.Tyr304Asp) c.652T>G (p.Tyr218Asp) c.811T>G (p.Tyr271Asp) | |
15 | g.38351204A= | CA2170812612 | SPRED1 | c.875A= (p.Tyr292=) c.911A= (p.Tyr304=) c.653A= (p.Tyr218=) c.812A= (p.Tyr271=) | |
15 | g.38351204A>C | CA391933450 | SPRED1 | c.875A>C (p.Tyr292Ser) c.911A>C (p.Tyr304Ser) c.653A>C (p.Tyr218Ser) c.812A>C (p.Tyr271Ser) | |
15 | g.38351204A>G | CA7470195 | SPRED1 | c.875A>G (p.Tyr292Cys) c.911A>G (p.Tyr304Cys) c.653A>G (p.Tyr218Cys) c.812A>G (p.Tyr271Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351204A>T | CA391933449 | SPRED1 | c.875A>T (p.Tyr292Phe) c.911A>T (p.Tyr304Phe) c.653A>T (p.Tyr218Phe) c.812A>T (p.Tyr271Phe) | COSMIC |
15 | g.38351205T>A | CA391933452 | SPRED1 | c.876T>A (p.Tyr292Ter) c.912T>A (p.Tyr304Ter) c.654T>A (p.Tyr218Ter) c.813T>A (p.Tyr271Ter) | |
15 | g.38351205T>C | CA490011918 | SPRED1 | c.876T>C (p.Tyr292=) c.912T>C (p.Tyr304=) c.654T>C (p.Tyr218=) c.813T>C (p.Tyr271=) | |
15 | g.38351205T>G | CA391933451 | SPRED1 | c.876T>G (p.Tyr292Ter) c.912T>G (p.Tyr304Ter) c.654T>G (p.Tyr218Ter) c.813T>G (p.Tyr271Ter) | |
15 | g.38351206C>A | CA391933453 | SPRED1 | c.877C>A (p.Leu293Met) c.913C>A (p.Leu305Met) c.655C>A (p.Leu219Met) c.814C>A (p.Leu272Met) | |
15 | g.38351206C= | CA2170812613 | SPRED1 | c.877C= (p.Leu293=) c.913C= (p.Leu305=) c.655C= (p.Leu219=) c.814C= (p.Leu272=) | |
15 | g.38351206C>G | CA391933454 | SPRED1 | c.877C>G (p.Leu293Val) c.913C>G (p.Leu305Val) c.655C>G (p.Leu219Val) c.814C>G (p.Leu272Val) | ClinVar dbSNP gnomAD v4 |
15 | g.38351206C>T | CA490011919 | SPRED1 | c.877C>T (p.Leu293=) c.913C>T (p.Leu305=) c.655C>T (p.Leu219=) c.814C>T (p.Leu272=) | gnomAD v4 |
15 | g.38351207T>A | CA391933455 | SPRED1 | c.878T>A (p.Leu293Gln) c.914T>A (p.Leu305Gln) c.656T>A (p.Leu219Gln) c.815T>A (p.Leu272Gln) | gnomAD v4 COSMIC |
15 | g.38351207T>C | CA391933456 | SPRED1 | c.878T>C (p.Leu293Pro) c.914T>C (p.Leu305Pro) c.656T>C (p.Leu219Pro) c.815T>C (p.Leu272Pro) | |
15 | g.38351207T>G | CA391933457 | SPRED1 | c.878T>G (p.Leu293Arg) c.914T>G (p.Leu305Arg) c.656T>G (p.Leu219Arg) c.815T>G (p.Leu272Arg) | |
15 | g.38351208G>A | CA7470196 | SPRED1 | c.879G>A (p.Leu293=) c.915G>A (p.Leu305=) c.657G>A (p.Leu219=) c.816G>A (p.Leu272=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351208G>C | CA490011928 | SPRED1 | c.879G>C (p.Leu293=) c.915G>C (p.Leu305=) c.657G>C (p.Leu219=) c.816G>C (p.Leu272=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351208G= | CA2170812614 | SPRED1 | c.879G= (p.Leu293=) c.915G= (p.Leu305=) c.657G= (p.Leu219=) c.816G= (p.Leu272=) | |
15 | g.38351208G>T | CA490011929 | SPRED1 | c.879G>T (p.Leu293=) c.915G>T (p.Leu305=) c.657G>T (p.Leu219=) c.816G>T (p.Leu272=) | gnomAD v4 |
15 | g.38351209T>A | CA391933458 | SPRED1 | c.880T>A (p.Tyr294Asn) c.916T>A (p.Tyr306Asn) c.658T>A (p.Tyr220Asn) c.817T>A (p.Tyr273Asn) | |
15 | g.38351209T>C | CA391933459 | SPRED1 | c.880T>C (p.Tyr294His) c.916T>C (p.Tyr306His) c.658T>C (p.Tyr220His) c.817T>C (p.Tyr273His) | gnomAD v4 |
15 | g.38351209T>G | CA391933460 | SPRED1 | c.880T>G (p.Tyr294Asp) c.916T>G (p.Tyr306Asp) c.658T>G (p.Tyr220Asp) c.817T>G (p.Tyr273Asp) | |
15 | g.38351209_38351210dup | CA658824653 | SPRED1 | c.880_881dup (p.Ser295ThrfsTer9) c.916_917dup (p.Ser307ThrfsTer9) c.658_659dup (p.Ser221ThrfsTer9) c.817_818dup (p.Ser274ThrfsTer9) | ClinVar dbSNP |
15 | g.38351210A= | CA2170812615 | SPRED1 | c.881A= (p.Tyr294=) c.917A= (p.Tyr306=) c.659A= (p.Tyr220=) c.818A= (p.Tyr273=) | |
15 | g.38351210A>C | CA391933461 | SPRED1 | c.881A>C (p.Tyr294Ser) c.917A>C (p.Tyr306Ser) c.659A>C (p.Tyr220Ser) c.818A>C (p.Tyr273Ser) | |
15 | g.38351210A>G | CA391933462 | SPRED1 | c.881A>G (p.Tyr294Cys) c.917A>G (p.Tyr306Cys) c.659A>G (p.Tyr220Cys) c.818A>G (p.Tyr273Cys) | |
15 | g.38351210A>T | CA10635893 | SPRED1 | c.881A>T (p.Tyr294Phe) c.917A>T (p.Tyr306Phe) c.659A>T (p.Tyr220Phe) c.818A>T (p.Tyr273Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351211C>A | CA391933463 | SPRED1 | c.882C>A (p.Tyr294Ter) c.918C>A (p.Tyr306Ter) c.660C>A (p.Tyr220Ter) c.819C>A (p.Tyr273Ter) | |
15 | g.38351211C>G | CA391933464 | SPRED1 | c.882C>G (p.Tyr294Ter) c.918C>G (p.Tyr306Ter) c.660C>G (p.Tyr220Ter) c.819C>G (p.Tyr273Ter) | |
15 | g.38351211C>T | CA490011937 | SPRED1 | c.882C>T (p.Tyr294=) c.918C>T (p.Tyr306=) c.660C>T (p.Tyr220=) c.819C>T (p.Tyr273=) | |
15 | g.38351212T>A | CA391933465 | SPRED1 | c.883T>A (p.Ser295Thr) c.919T>A (p.Ser307Thr) c.661T>A (p.Ser221Thr) c.820T>A (p.Ser274Thr) | |
15 | g.38351212T>C | CA391933466 | SPRED1 | c.883T>C (p.Ser295Pro) c.919T>C (p.Ser307Pro) c.661T>C (p.Ser221Pro) c.820T>C (p.Ser274Pro) | ClinVar |
15 | g.38351212T>G | CA391933467 | SPRED1 | c.883T>G (p.Ser295Ala) c.919T>G (p.Ser307Ala) c.661T>G (p.Ser221Ala) c.820T>G (p.Ser274Ala) | |
15 | g.38351213C>A | CA391933468 | SPRED1 | c.884C>A (p.Ser295Tyr) c.920C>A (p.Ser307Tyr) c.662C>A (p.Ser221Tyr) c.821C>A (p.Ser274Tyr) | gnomAD v4 |
15 | g.38351213C>G | CA391933469 | SPRED1 | c.884C>G (p.Ser295Cys) c.920C>G (p.Ser307Cys) c.662C>G (p.Ser221Cys) c.821C>G (p.Ser274Cys) | |
15 | g.38351213C>T | CA391933470 | SPRED1 | c.884C>T (p.Ser295Phe) c.920C>T (p.Ser307Phe) c.662C>T (p.Ser221Phe) c.821C>T (p.Ser274Phe) | |
15 | g.38351214T>A | CA490011941 | SPRED1 | c.885T>A (p.Ser295=) c.921T>A (p.Ser307=) c.663T>A (p.Ser221=) c.822T>A (p.Ser274=) | |
15 | g.38351214T>C | CA490011942 | SPRED1 | c.885T>C (p.Ser295=) c.921T>C (p.Ser307=) c.663T>C (p.Ser221=) c.822T>C (p.Ser274=) | ClinVar dbSNP gnomAD v4 |
15 | g.38351214T>G | CA490011944 | SPRED1 | c.885T>G (p.Ser295=) c.921T>G (p.Ser307=) c.663T>G (p.Ser221=) c.822T>G (p.Ser274=) | |
15 | g.38351214T= | CA2170812616 | SPRED1 | c.885T= (p.Ser295=) c.921T= (p.Ser307=) c.663T= (p.Ser221=) c.822T= (p.Ser274=) | |
15 | g.38351215T>A | CA391933471 | SPRED1 | c.886T>A (p.Cys296Ser) c.922T>A (p.Cys308Ser) c.664T>A (p.Cys222Ser) c.823T>A (p.Cys275Ser) | ClinVar |
15 | g.38351215T>C | CA7470197 | SPRED1 | c.886T>C (p.Cys296Arg) c.922T>C (p.Cys308Arg) c.664T>C (p.Cys222Arg) c.823T>C (p.Cys275Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351215T>G | CA391933472 | SPRED1 | c.886T>G (p.Cys296Gly) c.922T>G (p.Cys308Gly) c.664T>G (p.Cys222Gly) c.823T>G (p.Cys275Gly) | |
15 | g.38351215T= | CA2170812617 | SPRED1 | c.886T= (p.Cys296=) c.922T= (p.Cys308=) c.664T= (p.Cys222=) c.823T= (p.Cys275=) | |
15 | g.38351216G>A | CA7470198 | SPRED1 | c.887G>A (p.Cys296Tyr) c.923G>A (p.Cys308Tyr) c.665G>A (p.Cys222Tyr) c.824G>A (p.Cys275Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351216G>C | CA391933473 | SPRED1 | c.887G>C (p.Cys296Ser) c.923G>C (p.Cys308Ser) c.665G>C (p.Cys222Ser) c.824G>C (p.Cys275Ser) | |
15 | g.38351216G= | CA2170812618 | SPRED1 | c.887G= (p.Cys296=) c.923G= (p.Cys308=) c.665G= (p.Cys222=) c.824G= (p.Cys275=) | |
15 | g.38351216G>T | CA391933474 | SPRED1 | c.887G>T (p.Cys296Phe) c.923G>T (p.Cys308Phe) c.665G>T (p.Cys222Phe) c.824G>T (p.Cys275Phe) | dbSNP gnomAD v2 |
15 | g.38351217T>A | CA391933476 | SPRED1 | c.888T>A (p.Cys296Ter) c.924T>A (p.Cys308Ter) c.666T>A (p.Cys222Ter) c.825T>A (p.Cys275Ter) | |
15 | g.38351217T>C | CA7470199 | SPRED1 | c.888T>C (p.Cys296=) c.924T>C (p.Cys308=) c.666T>C (p.Cys222=) c.825T>C (p.Cys275=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351217T>G | CA391933475 | SPRED1 | c.888T>G (p.Cys296Trp) c.924T>G (p.Cys308Trp) c.666T>G (p.Cys222Trp) c.825T>G (p.Cys275Trp) | |
15 | g.38351217T= | CA2170812619 | SPRED1 | c.888T= (p.Cys296=) c.924T= (p.Cys308=) c.666T= (p.Cys222=) c.825T= (p.Cys275=) | |
15 | g.38351218G>A | CA391933477 | SPRED1 | c.889G>A (p.Gly297Arg) c.925G>A (p.Gly309Arg) c.667G>A (p.Gly223Arg) c.826G>A (p.Gly276Arg) | |
15 | g.38351218G>C | CA391933478 | SPRED1 | c.889G>C (p.Gly297Arg) c.925G>C (p.Gly309Arg) c.667G>C (p.Gly223Arg) c.826G>C (p.Gly276Arg) | |
15 | g.38351218G>T | CA391933479 | SPRED1 | c.889G>T (p.Gly297Trp) c.925G>T (p.Gly309Trp) c.667G>T (p.Gly223Trp) c.826G>T (p.Gly276Trp) | |
15 | g.38351219G>A | CA391933480 | SPRED1 | c.890G>A (p.Gly297Glu) c.926G>A (p.Gly309Glu) c.668G>A (p.Gly223Glu) c.827G>A (p.Gly276Glu) | |
15 | g.38351219G>C | CA391933481 | SPRED1 | c.890G>C (p.Gly297Ala) c.926G>C (p.Gly309Ala) c.668G>C (p.Gly223Ala) c.827G>C (p.Gly276Ala) | dbSNP |
15 | g.38351219G= | CA2170812620 | SPRED1 | c.890G= (p.Gly297=) c.926G= (p.Gly309=) c.668G= (p.Gly223=) c.827G= (p.Gly276=) | |
15 | g.38351219G>T | CA391933482 | SPRED1 | c.890G>T (p.Gly297Val) c.926G>T (p.Gly309Val) c.668G>T (p.Gly223Val) c.827G>T (p.Gly276Val) | |
15 | g.38351220G>A | CA490011957 | SPRED1 | c.891G>A (p.Gly297=) c.927G>A (p.Gly309=) c.669G>A (p.Gly223=) c.828G>A (p.Gly276=) | |
15 | g.38351220G>C | CA490011958 | SPRED1 | c.891G>C (p.Gly297=) c.927G>C (p.Gly309=) c.669G>C (p.Gly223=) c.828G>C (p.Gly276=) | |
15 | g.38351220G>T | CA490011959 | SPRED1 | c.891G>T (p.Gly297=) c.927G>T (p.Gly309=) c.669G>T (p.Gly223=) c.828G>T (p.Gly276=) | |
15 | g.38351221G>A | CA391933483 | SPRED1 | c.892G>A (p.Asp298Asn) c.928G>A (p.Asp310Asn) c.670G>A (p.Asp224Asn) c.829G>A (p.Asp277Asn) | gnomAD v4 |
15 | g.38351221G>C | CA7470200 | SPRED1 | c.892G>C (p.Asp298His) c.928G>C (p.Asp310His) c.670G>C (p.Asp224His) c.829G>C (p.Asp277His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351221G= | CA2170812621 | SPRED1 | c.892G= (p.Asp298=) c.928G= (p.Asp310=) c.670G= (p.Asp224=) c.829G= (p.Asp277=) | |
15 | g.38351221G>T | CA391933484 | SPRED1 | c.892G>T (p.Asp298Tyr) c.928G>T (p.Asp310Tyr) c.670G>T (p.Asp224Tyr) c.829G>T (p.Asp277Tyr) | gnomAD v4 |
15 | g.38351222A>C | CA391933485 | SPRED1 | c.893A>C (p.Asp298Ala) c.929A>C (p.Asp310Ala) c.671A>C (p.Asp224Ala) c.830A>C (p.Asp277Ala) | |
15 | g.38351222A>G | CA391933486 | SPRED1 | c.893A>G (p.Asp298Gly) c.929A>G (p.Asp310Gly) c.671A>G (p.Asp224Gly) c.830A>G (p.Asp277Gly) | ClinVar |
15 | g.38351222A>T | CA391933487 | SPRED1 | c.893A>T (p.Asp298Val) c.929A>T (p.Asp310Val) c.671A>T (p.Asp224Val) c.830A>T (p.Asp277Val) | |
15 | g.38351223T>A | CA391933488 | SPRED1 | c.894T>A (p.Asp298Glu) c.930T>A (p.Asp310Glu) c.672T>A (p.Asp224Glu) c.831T>A (p.Asp277Glu) | |
15 | g.38351223T>C | CA490011963 | SPRED1 | c.894T>C (p.Asp298=) c.930T>C (p.Asp310=) c.672T>C (p.Asp224=) c.831T>C (p.Asp277=) | |
15 | g.38351223T>G | CA391933489 | SPRED1 | c.894T>G (p.Asp298Glu) c.930T>G (p.Asp310Glu) c.672T>G (p.Asp224Glu) c.831T>G (p.Asp277Glu) | |
15 | g.38351224G>A | CA391933492 | SPRED1 | c.895G>A (p.Glu299Lys) c.931G>A (p.Glu311Lys) c.673G>A (p.Glu225Lys) c.832G>A (p.Glu278Lys) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351224G>C | CA391933491 | SPRED1 | c.895G>C (p.Glu299Gln) c.931G>C (p.Glu311Gln) c.673G>C (p.Glu225Gln) c.832G>C (p.Glu278Gln) | |
15 | g.38351224G= | CA2170812622 | SPRED1 | c.895G= (p.Glu299=) c.931G= (p.Glu311=) c.673G= (p.Glu225=) c.832G= (p.Glu278=) | |
15 | g.38351224G>T | CA391933490 | SPRED1 | c.895G>T (p.Glu299Ter) c.931G>T (p.Glu311Ter) c.673G>T (p.Glu225Ter) c.832G>T (p.Glu278Ter) | |
15 | g.38351225A>C | CA391933493 | SPRED1 | c.896A>C (p.Glu299Ala) c.932A>C (p.Glu311Ala) c.674A>C (p.Glu225Ala) c.833A>C (p.Glu278Ala) | ClinVar |
15 | g.38351225A>G | CA391933494 | SPRED1 | c.896A>G (p.Glu299Gly) c.932A>G (p.Glu311Gly) c.674A>G (p.Glu225Gly) c.833A>G (p.Glu278Gly) | |
15 | g.38351225A>T | CA391933495 | SPRED1 | c.896A>T (p.Glu299Val) c.932A>T (p.Glu311Val) c.674A>T (p.Glu225Val) c.833A>T (p.Glu278Val) | |
15 | g.38351226G>A | CA490011976 | SPRED1 | c.897G>A (p.Glu299=) c.933G>A (p.Glu311=) c.675G>A (p.Glu225=) c.834G>A (p.Glu278=) | |
15 | g.38351226G>C | CA391933496 | SPRED1 | c.897G>C (p.Glu299Asp) c.933G>C (p.Glu311Asp) c.675G>C (p.Glu225Asp) c.834G>C (p.Glu278Asp) | |
15 | g.38351226G>T | CA391933497 | SPRED1 | c.897G>T (p.Glu299Asp) c.933G>T (p.Glu311Asp) c.675G>T (p.Glu225Asp) c.834G>T (p.Glu278Asp) | |
15 | g.38351227A= | CA2170812623 | SPRED1 | c.898A= (p.Thr300=) c.934A= (p.Thr312=) c.676A= (p.Thr226=) c.835A= (p.Thr279=) | |
15 | g.38351227A>C | CA391933498 | SPRED1 | c.898A>C (p.Thr300Pro) c.934A>C (p.Thr312Pro) c.676A>C (p.Thr226Pro) c.835A>C (p.Thr279Pro) | |
15 | g.38351227A>G | CA391933499 | SPRED1 | c.898A>G (p.Thr300Ala) c.934A>G (p.Thr312Ala) c.676A>G (p.Thr226Ala) c.835A>G (p.Thr279Ala) | ClinVar dbSNP |
15 | g.38351227A>T | CA391933500 | SPRED1 | c.898A>T (p.Thr300Ser) c.934A>T (p.Thr312Ser) c.676A>T (p.Thr226Ser) c.835A>T (p.Thr279Ser) | |
15 | g.38351228C>A | CA391933501 | SPRED1 | c.899C>A (p.Thr300Asn) c.935C>A (p.Thr312Asn) c.677C>A (p.Thr226Asn) c.836C>A (p.Thr279Asn) | |
15 | g.38351228C= | CA2170812624 | SPRED1 | c.899C= (p.Thr300=) c.935C= (p.Thr312=) c.677C= (p.Thr226=) c.836C= (p.Thr279=) | |
15 | g.38351228C>G | CA7470201 | SPRED1 | c.899C>G (p.Thr300Ser) c.935C>G (p.Thr312Ser) c.677C>G (p.Thr226Ser) c.836C>G (p.Thr279Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351228C>T | CA391933502 | SPRED1 | c.899C>T (p.Thr300Ile) c.935C>T (p.Thr312Ile) c.677C>T (p.Thr226Ile) c.836C>T (p.Thr279Ile) | |
15 | g.38351228_38351233delinsCTAAGT | CA2170812625 | SPRED1 | c.899_904delinsCTAAGT (p.Thr300=) c.935_940delinsCTAAGT (p.Thr312=) c.677_682delinsCTAAGT (p.Thr226=) c.836_841delinsCTAAGT (p.Thr279=) | |
15 | g.38351229T>A | CA490011982 | SPRED1 | c.900T>A (p.Thr300=) c.936T>A (p.Thr312=) c.678T>A (p.Thr226=) c.837T>A (p.Thr279=) | |
15 | g.38351229T>C | CA490011984 | SPRED1 | c.900T>C (p.Thr300=) c.936T>C (p.Thr312=) c.678T>C (p.Thr226=) c.837T>C (p.Thr279=) | |
15 | g.38351229T>G | CA490011983 | SPRED1 | c.900T>G (p.Thr300=) c.936T>G (p.Thr312=) c.678T>G (p.Thr226=) c.837T>G (p.Thr279=) | |
15 | g.38351229dup | CA915946530 | SPRED1 | c.900dup (p.Lys301Ter) c.936dup (p.Lys313Ter) c.678dup (p.Lys227Ter) c.837dup (p.Lys280Ter) | ClinVar dbSNP |
15 | g.38351235_38351239del | CA915946529 | SPRED1 | c.906_910del (p.Leu302PhefsTer9) c.942_946del (p.Leu314PhefsTer9) c.684_688del (p.Leu228PhefsTer9) c.843_847del (p.Leu281PhefsTer9) | ClinVar dbSNP |
15 | g.38351230A>C | CA391933503 | SPRED1 | c.901A>C (p.Lys301Gln) c.937A>C (p.Lys313Gln) c.679A>C (p.Lys227Gln) c.838A>C (p.Lys280Gln) | |
15 | g.38351230A>G | CA391933504 | SPRED1 | c.901A>G (p.Lys301Glu) c.937A>G (p.Lys313Glu) c.679A>G (p.Lys227Glu) c.838A>G (p.Lys280Glu) | |
15 | g.38351230A>T | CA391933505 | SPRED1 | c.901A>T (p.Lys301Ter) c.937A>T (p.Lys313Ter) c.679A>T (p.Lys227Ter) c.838A>T (p.Lys280Ter) | |
15 | g.38351230_38351234delinsAAGTT | CA2170812626 | SPRED1 | c.901_905delinsAAGTT (p.Lys301=) c.937_941delinsAAGTT (p.Lys313=) c.679_683delinsAAGTT (p.Lys227=) c.838_842delinsAAGTT (p.Lys280=) | |
15 | g.38351231A>C | CA391933508 | SPRED1 | c.902A>C (p.Lys301Thr) c.938A>C (p.Lys313Thr) c.680A>C (p.Lys227Thr) c.839A>C (p.Lys280Thr) | ClinVar |
15 | g.38351231A>G | CA391933507 | SPRED1 | c.902A>G (p.Lys301Arg) c.938A>G (p.Lys313Arg) c.680A>G (p.Lys227Arg) c.839A>G (p.Lys280Arg) | |
15 | g.38351231A>T | CA391933506 | SPRED1 | c.902A>T (p.Lys301Met) c.938A>T (p.Lys313Met) c.680A>T (p.Lys227Met) c.839A>T (p.Lys280Met) | |
15 | g.38351232_38351235del | CA915946531 | SPRED1 | c.903_906del (p.Leu302ValfsTer16) c.939_942del (p.Leu314ValfsTer16) c.681_684del (p.Leu228ValfsTer16) c.840_843del (p.Leu281ValfsTer16) | ClinVar dbSNP |
15 | g.38351232G>A | CA490011988 | SPRED1 | c.903G>A (p.Lys301=) c.939G>A (p.Lys313=) c.681G>A (p.Lys227=) c.840G>A (p.Lys280=) | |
15 | g.38351232G>C | CA391933509 | SPRED1 | c.903G>C (p.Lys301Asn) c.939G>C (p.Lys313Asn) c.681G>C (p.Lys227Asn) c.840G>C (p.Lys280Asn) | |
15 | g.38351232G>T | CA391933510 | SPRED1 | c.903G>T (p.Lys301Asn) c.939G>T (p.Lys313Asn) c.681G>T (p.Lys227Asn) c.840G>T (p.Lys280Asn) | |
15 | g.38351233T>A | CA391933511 | SPRED1 | c.904T>A (p.Leu302Ile) c.940T>A (p.Leu314Ile) c.682T>A (p.Leu228Ile) c.841T>A (p.Leu281Ile) | |
15 | g.38351233T>C | CA490011998 | SPRED1 | c.904T>C (p.Leu302=) c.940T>C (p.Leu314=) c.682T>C (p.Leu228=) c.841T>C (p.Leu281=) | |
15 | g.38351233T>G | CA391933512 | SPRED1 | c.904T>G (p.Leu302Val) c.940T>G (p.Leu314Val) c.682T>G (p.Leu228Val) c.841T>G (p.Leu281Val) | |
15 | g.38351234T>A | CA391933513 | SPRED1 | c.905T>A (p.Leu302Ter) c.941T>A (p.Leu314Ter) c.683T>A (p.Leu228Ter) c.842T>A (p.Leu281Ter) | |
15 | g.38351234T>C | CA391933514 | SPRED1 | c.905T>C (p.Leu302Ser) c.941T>C (p.Leu314Ser) c.683T>C (p.Leu228Ser) c.842T>C (p.Leu281Ser) | |
15 | g.38351234T>G | CA391933515 | SPRED1 | c.905T>G (p.Leu302Ter) c.941T>G (p.Leu314Ter) c.683T>G (p.Leu228Ter) c.842T>G (p.Leu281Ter) | |
15 | g.38351235A= | CA2170812627 | SPRED1 | c.906A= (p.Leu302=) c.942A= (p.Leu314=) c.684A= (p.Leu228=) c.843A= (p.Leu281=) | |
15 | g.38351235A>C | CA391933516 | SPRED1 | c.906A>C (p.Leu302Phe) c.942A>C (p.Leu314Phe) c.684A>C (p.Leu228Phe) c.843A>C (p.Leu281Phe) | gnomAD v4 |
15 | g.38351235A>G | CA7470202 | SPRED1 | c.906A>G (p.Leu302=) c.942A>G (p.Leu314=) c.684A>G (p.Leu228=) c.843A>G (p.Leu281=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351235A>T | CA391933517 | SPRED1 | c.906A>T (p.Leu302Phe) c.942A>T (p.Leu314Phe) c.684A>T (p.Leu228Phe) c.843A>T (p.Leu281Phe) | |
15 | g.38351236A>C | CA391933518 | SPRED1 | c.907A>C (p.Ser303Arg) c.943A>C (p.Ser315Arg) c.685A>C (p.Ser229Arg) c.844A>C (p.Ser282Arg) | ClinVar dbSNP |
15 | g.38351236A>G | CA391933519 | SPRED1 | c.907A>G (p.Ser303Gly) c.943A>G (p.Ser315Gly) c.685A>G (p.Ser229Gly) c.844A>G (p.Ser282Gly) | gnomAD v4 |
15 | g.38351236A>T | CA391933520 | SPRED1 | c.907A>T (p.Ser303Cys) c.943A>T (p.Ser315Cys) c.685A>T (p.Ser229Cys) c.844A>T (p.Ser282Cys) | |
15 | g.38351237G>A | CA391933521 | SPRED1 | c.908G>A (p.Ser303Asn) c.944G>A (p.Ser315Asn) c.686G>A (p.Ser229Asn) c.845G>A (p.Ser282Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351237G>C | CA391933522 | SPRED1 | c.908G>C (p.Ser303Thr) c.944G>C (p.Ser315Thr) c.686G>C (p.Ser229Thr) c.845G>C (p.Ser282Thr) | |
15 | g.38351237G= | CA2170812628 | SPRED1 | c.908G= (p.Ser303=) c.944G= (p.Ser315=) c.686G= (p.Ser229=) c.845G= (p.Ser282=) | |
15 | g.38351237G>T | CA391933523 | SPRED1 | c.908G>T (p.Ser303Ile) c.944G>T (p.Ser315Ile) c.686G>T (p.Ser229Ile) c.845G>T (p.Ser282Ile) | |
15 | g.38351238T>A | CA391933525 | SPRED1 | c.909T>A (p.Ser303Arg) c.945T>A (p.Ser315Arg) c.687T>A (p.Ser229Arg) c.846T>A (p.Ser282Arg) | |
15 | g.38351238T>C | CA490012011 | SPRED1 | c.909T>C (p.Ser303=) c.945T>C (p.Ser315=) c.687T>C (p.Ser229=) c.846T>C (p.Ser282=) | |
15 | g.38351238T>G | CA391933524 | SPRED1 | c.909T>G (p.Ser303Arg) c.945T>G (p.Ser315Arg) c.687T>G (p.Ser229Arg) c.846T>G (p.Ser282Arg) | |
15 | g.38351239T>A | CA391933526 | SPRED1 | c.910T>A (p.Ser304Thr) c.946T>A (p.Ser316Thr) c.688T>A (p.Ser230Thr) c.847T>A (p.Ser283Thr) | |
15 | g.38351239T>C | CA391933527 | SPRED1 | c.910T>C (p.Ser304Pro) c.946T>C (p.Ser316Pro) c.688T>C (p.Ser230Pro) c.847T>C (p.Ser283Pro) | |
15 | g.38351239T>G | CA391933528 | SPRED1 | c.910T>G (p.Ser304Ala) c.946T>G (p.Ser316Ala) c.688T>G (p.Ser230Ala) c.847T>G (p.Ser283Ala) | |
15 | g.38351240C>A | CA391933529 | SPRED1 | c.911C>A (p.Ser304Ter) c.947C>A (p.Ser316Ter) c.689C>A (p.Ser230Ter) c.848C>A (p.Ser283Ter) | |
15 | g.38351240C>G | CA391933530 | SPRED1 | c.911C>G (p.Ser304Ter) c.947C>G (p.Ser316Ter) c.689C>G (p.Ser230Ter) c.848C>G (p.Ser283Ter) | |
15 | g.38351240C>T | CA391933531 | SPRED1 | c.911C>T (p.Ser304Leu) c.947C>T (p.Ser316Leu) c.689C>T (p.Ser230Leu) c.848C>T (p.Ser283Leu) | |
15 | g.38351241A>C | CA490012201 | SPRED1 | c.912A>C (p.Ser304=) c.948A>C (p.Ser316=) c.690A>C (p.Ser230=) c.849A>C (p.Ser283=) | |
15 | g.38351241A>G | CA490012202 | SPRED1 | c.912A>G (p.Ser304=) c.948A>G (p.Ser316=) c.690A>G (p.Ser230=) c.849A>G (p.Ser283=) | ClinVar dbSNP |
15 | g.38351241A>T | CA490012205 | SPRED1 | c.912A>T (p.Ser304=) c.948A>T (p.Ser316=) c.690A>T (p.Ser230=) c.849A>T (p.Ser283=) | |
15 | g.38351242C>A | CA391933532 | SPRED1 | c.913C>A (p.Pro305Thr) c.949C>A (p.Pro317Thr) c.691C>A (p.Pro231Thr) c.850C>A (p.Pro284Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351242C= | CA2170812629 | SPRED1 | c.913C= (p.Pro305=) c.949C= (p.Pro317=) c.691C= (p.Pro231=) c.850C= (p.Pro284=) | |
15 | g.38351242C>G | CA391933533 | SPRED1 | c.913C>G (p.Pro305Ala) c.949C>G (p.Pro317Ala) c.691C>G (p.Pro231Ala) c.850C>G (p.Pro284Ala) | |
15 | g.38351242C>T | CA391933534 | SPRED1 | c.913C>T (p.Pro305Ser) c.949C>T (p.Pro317Ser) c.691C>T (p.Pro231Ser) c.850C>T (p.Pro284Ser) | gnomAD v4 |
15 | g.38351243C>A | CA391933535 | SPRED1 | c.914C>A (p.Pro305His) c.950C>A (p.Pro317His) c.692C>A (p.Pro231His) c.851C>A (p.Pro284His) | gnomAD v4 |
15 | g.38351243C= | CA2170812630 | SPRED1 | c.914C= (p.Pro305=) c.950C= (p.Pro317=) c.692C= (p.Pro231=) c.851C= (p.Pro284=) | |
15 | g.38351243C>G | CA269293449 | SPRED1 | c.914C>G (p.Pro305Arg) c.950C>G (p.Pro317Arg) c.692C>G (p.Pro231Arg) c.851C>G (p.Pro284Arg) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351243C>T | CA391933536 | SPRED1 | c.914C>T (p.Pro305Leu) c.950C>T (p.Pro317Leu) c.692C>T (p.Pro231Leu) c.851C>T (p.Pro284Leu) | |
15 | g.38351244C>A | CA490012214 | SPRED1 | c.915C>A (p.Pro305=) c.951C>A (p.Pro317=) c.693C>A (p.Pro231=) c.852C>A (p.Pro284=) | |
15 | g.38351244C>G | CA490012216 | SPRED1 | c.915C>G (p.Pro305=) c.951C>G (p.Pro317=) c.693C>G (p.Pro231=) c.852C>G (p.Pro284=) | ClinVar dbSNP |
15 | g.38351244C>T | CA490012217 | SPRED1 | c.915C>T (p.Pro305=) c.951C>T (p.Pro317=) c.693C>T (p.Pro231=) c.852C>T (p.Pro284=) |