| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 15 | g.38351245A= | CA2170812631 | SPRED1 | c.916A= (p.Lys306=) c.952A= (p.Lys318=) c.694A= (p.Lys232=) c.853A= (p.Lys285=) | |
| 15 | g.38351245A>C | CA391933539 | SPRED1 | c.916A>C (p.Lys306Gln) c.952A>C (p.Lys318Gln) c.694A>C (p.Lys232Gln) c.853A>C (p.Lys285Gln) | |
| 15 | g.38351245A>G | CA391933538 | SPRED1 | c.916A>G (p.Lys306Glu) c.952A>G (p.Lys318Glu) c.694A>G (p.Lys232Glu) c.853A>G (p.Lys285Glu) | ClinVar dbSNP gnomAD v4 |
| 15 | g.38351245A>T | CA391933537 | SPRED1 | c.916A>T (p.Lys306Ter) c.952A>T (p.Lys318Ter) c.694A>T (p.Lys232Ter) c.853A>T (p.Lys285Ter) | ClinVar dbSNP |
| 15 | g.38351246A= | CA2170812632 | SPRED1 | c.917A= (p.Lys306=) c.953A= (p.Lys318=) c.695A= (p.Lys232=) c.854A= (p.Lys285=) | |
| 15 | g.38351246A>C | CA391933540 | SPRED1 | c.917A>C (p.Lys306Thr) c.953A>C (p.Lys318Thr) c.695A>C (p.Lys232Thr) c.854A>C (p.Lys285Thr) | |
| 15 | g.38351246A>G | CA391933541 | SPRED1 | c.917A>G (p.Lys306Arg) c.953A>G (p.Lys318Arg) c.695A>G (p.Lys232Arg) c.854A>G (p.Lys285Arg) | ClinVar dbSNP |
| 15 | g.38351246A>T | CA391933542 | SPRED1 | c.917A>T (p.Lys306Ile) c.953A>T (p.Lys318Ile) c.695A>T (p.Lys232Ile) c.854A>T (p.Lys285Ile) | |
| 15 | g.38351247A>C | CA391933543 | SPRED1 | c.918A>C (p.Lys306Asn) c.954A>C (p.Lys318Asn) c.696A>C (p.Lys232Asn) c.855A>C (p.Lys285Asn) | |
| 15 | g.38351247A>G | CA490012225 | SPRED1 | c.918A>G (p.Lys306=) c.954A>G (p.Lys318=) c.696A>G (p.Lys232=) c.855A>G (p.Lys285=) | |
| 15 | g.38351247A>T | CA391933544 | SPRED1 | c.918A>T (p.Lys306Asn) c.954A>T (p.Lys318Asn) c.696A>T (p.Lys232Asn) c.855A>T (p.Lys285Asn) | |
| 15 | g.38351248G>A | CA391933545 | SPRED1 | c.919G>A (p.Asp307Asn) c.955G>A (p.Asp319Asn) c.697G>A (p.Asp233Asn) c.856G>A (p.Asp286Asn) | |
| 15 | g.38351248G>C | CA391933546 | SPRED1 | c.919G>C (p.Asp307His) c.955G>C (p.Asp319His) c.697G>C (p.Asp233His) c.856G>C (p.Asp286His) | |
| 15 | g.38351248G>T | CA391933547 | SPRED1 | c.919G>T (p.Asp307Tyr) c.955G>T (p.Asp319Tyr) c.697G>T (p.Asp233Tyr) c.856G>T (p.Asp286Tyr) | |
| 15 | g.38351249A= | CA2170812633 | SPRED1 | c.920A= (p.Asp307=) c.956A= (p.Asp319=) c.698A= (p.Asp233=) c.857A= (p.Asp286=) | |
| 15 | g.38351249A>C | CA391933548 | SPRED1 | c.920A>C (p.Asp307Ala) c.956A>C (p.Asp319Ala) c.698A>C (p.Asp233Ala) c.857A>C (p.Asp286Ala) | |
| 15 | g.38351249A>G | CA7470203 | SPRED1 | c.920A>G (p.Asp307Gly) c.956A>G (p.Asp319Gly) c.698A>G (p.Asp233Gly) c.857A>G (p.Asp286Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351249A>T | CA391933549 | SPRED1 | c.920A>T (p.Asp307Val) c.956A>T (p.Asp319Val) c.698A>T (p.Asp233Val) c.857A>T (p.Asp286Val) | |
| 15 | g.38351249_38351251delinsACT | CA2170812634 | SPRED1 | c.920_922delinsACT (p.Asp307=) c.956_958delinsACT (p.Asp319=) c.698_700delinsACT (p.Asp233=) c.857_859delinsACT (p.Asp286=) | |
| 15 | g.38351250C>A | CA391933550 | SPRED1 | c.921C>A (p.Asp307Glu) c.957C>A (p.Asp319Glu) c.699C>A (p.Asp233Glu) c.858C>A (p.Asp286Glu) | |
| 15 | g.38351250C>G | CA391933551 | SPRED1 | c.921C>G (p.Asp307Glu) c.957C>G (p.Asp319Glu) c.699C>G (p.Asp233Glu) c.858C>G (p.Asp286Glu) | |
| 15 | g.38351250C>T | CA490012234 | SPRED1 | c.921C>T (p.Asp307=) c.957C>T (p.Asp319=) c.699C>T (p.Asp233=) c.858C>T (p.Asp286=) | |
| 15 | g.38351252_38351253del | CA658658281 | SPRED1 | c.923_924del (p.Ser308CysfsTer4) c.959_960del (p.Ser320CysfsTer4) c.701_702del (p.Ser234CysfsTer4) c.860_861del (p.Ser287CysfsTer4) | ClinVar dbSNP |
| 15 | g.38351251T>A | CA7470205 | SPRED1 | c.922T>A (p.Ser308Thr) c.958T>A (p.Ser320Thr) c.700T>A (p.Ser234Thr) c.859T>A (p.Ser287Thr) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 15 | g.38351251T>C | CA391933552 | SPRED1 | c.922T>C (p.Ser308Pro) c.958T>C (p.Ser320Pro) c.700T>C (p.Ser234Pro) c.859T>C (p.Ser287Pro) | dbSNP |
| 15 | g.38351251T>G | CA7470204 | SPRED1 | c.922T>G (p.Ser308Ala) c.958T>G (p.Ser320Ala) c.700T>G (p.Ser234Ala) c.859T>G (p.Ser287Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351251T= | CA2170812635 | SPRED1 | c.922T= (p.Ser308=) c.958T= (p.Ser320=) c.700T= (p.Ser234=) c.859T= (p.Ser287=) | |
| 15 | g.38351253_38351276del | CA2627716206 | SPRED1 | c.924_947del (p.Val309_Ser316del) c.960_983del (p.Val321_Ser328del) c.702_725del (p.Val235_Ser242del) c.861_884del (p.Val288_Ser295del) | gnomAD v4 |
| 15 | g.38351252C>A | CA391933553 | SPRED1 | c.923C>A (p.Ser308Tyr) c.959C>A (p.Ser320Tyr) c.701C>A (p.Ser234Tyr) c.860C>A (p.Ser287Tyr) | |
| 15 | g.38351252C>G | CA391933554 | SPRED1 | c.923C>G (p.Ser308Cys) c.959C>G (p.Ser320Cys) c.701C>G (p.Ser234Cys) c.860C>G (p.Ser287Cys) | |
| 15 | g.38351252C>T | CA391933555 | SPRED1 | c.923C>T (p.Ser308Phe) c.959C>T (p.Ser320Phe) c.701C>T (p.Ser234Phe) c.860C>T (p.Ser287Phe) | gnomAD v4 |
| 15 | g.38351253T>A | CA490012241 | SPRED1 | c.924T>A (p.Ser308=) c.960T>A (p.Ser320=) c.702T>A (p.Ser234=) c.861T>A (p.Ser287=) | |
| 15 | g.38351253T>C | CA490012243 | SPRED1 | c.924T>C (p.Ser308=) c.960T>C (p.Ser320=) c.702T>C (p.Ser234=) c.861T>C (p.Ser287=) | |
| 15 | g.38351253T>G | CA490012246 | SPRED1 | c.924T>G (p.Ser308=) c.960T>G (p.Ser320=) c.702T>G (p.Ser234=) c.861T>G (p.Ser287=) | |
| 15 | g.38351255_38351256del | CA2580613792 | SPRED1 | c.926_927del (p.Val309GlyfsTer3) c.962_963del (p.Val321GlyfsTer3) c.704_705del (p.Val235GlyfsTer3) c.863_864del (p.Val288GlyfsTer3) | ClinVar dbSNP gnomAD v4 |
| 15 | g.38351254G>A | CA391933556 | SPRED1 | c.925G>A (p.Val309Met) c.961G>A (p.Val321Met) c.703G>A (p.Val235Met) c.862G>A (p.Val288Met) | |
| 15 | g.38351254G>C | CA391933557 | SPRED1 | c.925G>C (p.Val309Leu) c.961G>C (p.Val321Leu) c.703G>C (p.Val235Leu) c.862G>C (p.Val288Leu) | gnomAD v4 |
| 15 | g.38351254G>T | CA391933558 | SPRED1 | c.925G>T (p.Val309Leu) c.961G>T (p.Val321Leu) c.703G>T (p.Val235Leu) c.862G>T (p.Val288Leu) | |
| 15 | g.38351255T>A | CA391933559 | SPRED1 | c.926T>A (p.Val309Glu) c.962T>A (p.Val321Glu) c.704T>A (p.Val235Glu) c.863T>A (p.Val288Glu) | |
| 15 | g.38351255T>C | CA181530 | SPRED1 | c.926T>C (p.Val309Ala) c.962T>C (p.Val321Ala) c.704T>C (p.Val235Ala) c.863T>C (p.Val288Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351255T>G | CA391933560 | SPRED1 | c.926T>G (p.Val309Gly) c.962T>G (p.Val321Gly) c.704T>G (p.Val235Gly) c.863T>G (p.Val288Gly) | |
| 15 | g.38351255T= | CA2170812636 | SPRED1 | c.926T= (p.Val309=) c.962T= (p.Val321=) c.704T= (p.Val235=) c.863T= (p.Val288=) | |
| 15 | g.38351256G>A | CA490012250 | SPRED1 | c.927G>A (p.Val309=) c.963G>A (p.Val321=) c.705G>A (p.Val235=) c.864G>A (p.Val288=) | |
| 15 | g.38351256G>C | CA490012253 | SPRED1 | c.927G>C (p.Val309=) c.963G>C (p.Val321=) c.705G>C (p.Val235=) c.864G>C (p.Val288=) | |
| 15 | g.38351256G>T | CA490012255 | SPRED1 | c.927G>T (p.Val309=) c.963G>T (p.Val321=) c.705G>T (p.Val235=) c.864G>T (p.Val288=) | |
| 15 | g.38351257G>A | CA269293450 | SPRED1 | c.928G>A (p.Val310Ile) c.964G>A (p.Val322Ile) c.706G>A (p.Val236Ile) c.865G>A (p.Val289Ile) | dbSNP |
| 15 | g.38351257G>C | CA391933561 | SPRED1 | c.928G>C (p.Val310Leu) c.964G>C (p.Val322Leu) c.706G>C (p.Val236Leu) c.865G>C (p.Val289Leu) | |
| 15 | g.38351257G= | CA2170812637 | SPRED1 | c.928G= (p.Val310=) c.964G= (p.Val322=) c.706G= (p.Val236=) c.865G= (p.Val289=) | |
| 15 | g.38351257G>T | CA391933562 | SPRED1 | c.928G>T (p.Val310Leu) c.964G>T (p.Val322Leu) c.706G>T (p.Val236Leu) c.865G>T (p.Val289Leu) | |
| 15 | g.38351258T>A | CA391933565 | SPRED1 | c.929T>A (p.Val310Glu) c.965T>A (p.Val322Glu) c.707T>A (p.Val236Glu) c.866T>A (p.Val289Glu) | |
| 15 | g.38351258T>C | CA391933564 | SPRED1 | c.929T>C (p.Val310Ala) c.965T>C (p.Val322Ala) c.707T>C (p.Val236Ala) c.866T>C (p.Val289Ala) | gnomAD v4 |
| 15 | g.38351258T>G | CA391933563 | SPRED1 | c.929T>G (p.Val310Gly) c.965T>G (p.Val322Gly) c.707T>G (p.Val236Gly) c.866T>G (p.Val289Gly) | |
| 15 | g.38351259A= | CA2170812638 | SPRED1 | c.930A= (p.Val310=) c.966A= (p.Val322=) c.708A= (p.Val236=) c.867A= (p.Val289=) | |
| 15 | g.38351259A>C | CA490012258 | SPRED1 | c.930A>C (p.Val310=) c.966A>C (p.Val322=) c.708A>C (p.Val236=) c.867A>C (p.Val289=) | |
| 15 | g.38351259A>G | CA490012259 | SPRED1 | c.930A>G (p.Val310=) c.966A>G (p.Val322=) c.708A>G (p.Val236=) c.867A>G (p.Val289=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351259A>T | CA490012257 | SPRED1 | c.930A>T (p.Val310=) c.966A>T (p.Val322=) c.708A>T (p.Val236=) c.867A>T (p.Val289=) | |
| 15 | g.38351260T>A | CA391933566 | SPRED1 | c.931T>A (p.Phe311Ile) c.967T>A (p.Phe323Ile) c.709T>A (p.Phe237Ile) c.868T>A (p.Phe290Ile) | COSMIC |
| 15 | g.38351260T>C | CA269293451 | SPRED1 | c.931T>C (p.Phe311Leu) c.967T>C (p.Phe323Leu) c.709T>C (p.Phe237Leu) c.868T>C (p.Phe290Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351260T>G | CA391933567 | SPRED1 | c.931T>G (p.Phe311Val) c.967T>G (p.Phe323Val) c.709T>G (p.Phe237Val) c.868T>G (p.Phe290Val) | |
| 15 | g.38351260T= | CA2170812639 | SPRED1 | c.931T= (p.Phe311=) c.967T= (p.Phe323=) c.709T= (p.Phe237=) c.868T= (p.Phe290=) | |
| 15 | g.38351261_38351262del | CA2580089327 | SPRED1 | c.932_933del (p.Phe311Ter) c.968_969del (p.Phe323Ter) c.710_711del (p.Phe237Ter) c.869_870del (p.Phe290Ter) | ClinVar |
| 15 | g.38351261T>A | CA391933568 | SPRED1 | c.932T>A (p.Phe311Tyr) c.968T>A (p.Phe323Tyr) c.710T>A (p.Phe237Tyr) c.869T>A (p.Phe290Tyr) | |
| 15 | g.38351261T>C | CA391933569 | SPRED1 | c.932T>C (p.Phe311Ser) c.968T>C (p.Phe323Ser) c.710T>C (p.Phe237Ser) c.869T>C (p.Phe290Ser) | |
| 15 | g.38351261T>G | CA391933570 | SPRED1 | c.932T>G (p.Phe311Cys) c.968T>G (p.Phe323Cys) c.710T>G (p.Phe237Cys) c.869T>G (p.Phe290Cys) | |
| 15 | g.38351262T>A | CA391933571 | SPRED1 | c.933T>A (p.Phe311Leu) c.969T>A (p.Phe323Leu) c.711T>A (p.Phe237Leu) c.870T>A (p.Phe290Leu) | |
| 15 | g.38351262T>C | CA16606924 | SPRED1 | c.933T>C (p.Phe311=) c.969T>C (p.Phe323=) c.711T>C (p.Phe237=) c.870T>C (p.Phe290=) | ClinVar dbSNP |
| 15 | g.38351262T>G | CA391933572 | SPRED1 | c.933T>G (p.Phe311Leu) c.969T>G (p.Phe323Leu) c.711T>G (p.Phe237Leu) c.870T>G (p.Phe290Leu) | |
| 15 | g.38351262T= | CA2170812640 | SPRED1 | c.933T= (p.Phe311=) c.969T= (p.Phe323=) c.711T= (p.Phe237=) c.870T= (p.Phe290=) | |
| 15 | g.38351263A>C | CA391933573 | SPRED1 | c.934A>C (p.Lys312Gln) c.970A>C (p.Lys324Gln) c.712A>C (p.Lys238Gln) c.871A>C (p.Lys291Gln) | |
| 15 | g.38351263A>G | CA391933574 | SPRED1 | c.934A>G (p.Lys312Glu) c.970A>G (p.Lys324Glu) c.712A>G (p.Lys238Glu) c.871A>G (p.Lys291Glu) | |
| 15 | g.38351263A>T | CA391933575 | SPRED1 | c.934A>T (p.Lys312Ter) c.970A>T (p.Lys324Ter) c.712A>T (p.Lys238Ter) c.871A>T (p.Lys291Ter) | |
| 15 | g.38351264A>C | CA391933576 | SPRED1 | c.935A>C (p.Lys312Thr) c.971A>C (p.Lys324Thr) c.713A>C (p.Lys238Thr) c.872A>C (p.Lys291Thr) | |
| 15 | g.38351264A>G | CA391933577 | SPRED1 | c.935A>G (p.Lys312Arg) c.971A>G (p.Lys324Arg) c.713A>G (p.Lys238Arg) c.872A>G (p.Lys291Arg) | COSMIC |
| 15 | g.38351264A>T | CA391933578 | SPRED1 | c.935A>T (p.Lys312Met) c.971A>T (p.Lys324Met) c.713A>T (p.Lys238Met) c.872A>T (p.Lys291Met) | |
| 15 | g.38351265G>A | CA490012268 | SPRED1 | c.936G>A (p.Lys312=) c.972G>A (p.Lys324=) c.714G>A (p.Lys238=) c.873G>A (p.Lys291=) | |
| 15 | g.38351265G>C | CA391933579 | SPRED1 | c.936G>C (p.Lys312Asn) c.972G>C (p.Lys324Asn) c.714G>C (p.Lys238Asn) c.873G>C (p.Lys291Asn) | |
| 15 | g.38351265G>T | CA391933580 | SPRED1 | c.936G>T (p.Lys312Asn) c.972G>T (p.Lys324Asn) c.714G>T (p.Lys238Asn) c.873G>T (p.Lys291Asn) | |
| 15 | g.38351266A>C | CA391933581 | SPRED1 | c.937A>C (p.Thr313Pro) c.973A>C (p.Thr325Pro) c.715A>C (p.Thr239Pro) c.874A>C (p.Thr292Pro) | |
| 15 | g.38351266A>G | CA391933583 | SPRED1 | c.937A>G (p.Thr313Ala) c.973A>G (p.Thr325Ala) c.715A>G (p.Thr239Ala) c.874A>G (p.Thr292Ala) | |
| 15 | g.38351266A>T | CA391933582 | SPRED1 | c.937A>T (p.Thr313Ser) c.973A>T (p.Thr325Ser) c.715A>T (p.Thr239Ser) c.874A>T (p.Thr292Ser) | |
| 15 | g.38351267C>A | CA391933584 | SPRED1 | c.938C>A (p.Thr313Lys) c.974C>A (p.Thr325Lys) c.716C>A (p.Thr239Lys) c.875C>A (p.Thr292Lys) | |
| 15 | g.38351267C= | CA2170812641 | SPRED1 | c.938C= (p.Thr313=) c.974C= (p.Thr325=) c.716C= (p.Thr239=) c.875C= (p.Thr292=) | |
| 15 | g.38351267C>G | CA391933585 | SPRED1 | c.938C>G (p.Thr313Arg) c.974C>G (p.Thr325Arg) c.716C>G (p.Thr239Arg) c.875C>G (p.Thr292Arg) | |
| 15 | g.38351267C>T | CA7470206 | SPRED1 | c.938C>T (p.Thr313Met) c.974C>T (p.Thr325Met) c.716C>T (p.Thr239Met) c.875C>T (p.Thr292Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351268G>A | CA7470207 | SPRED1 | c.939G>A (p.Thr313=) c.975G>A (p.Thr325=) c.717G>A (p.Thr239=) c.876G>A (p.Thr292=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351268G>C | CA490012272 | SPRED1 | c.939G>C (p.Thr313=) c.975G>C (p.Thr325=) c.717G>C (p.Thr239=) c.876G>C (p.Thr292=) | |
| 15 | g.38351268G= | CA2170812642 | SPRED1 | c.939G= (p.Thr313=) c.975G= (p.Thr325=) c.717G= (p.Thr239=) c.876G= (p.Thr292=) | |
| 15 | g.38351268G>T | CA7470208 | SPRED1 | c.939G>T (p.Thr313=) c.975G>T (p.Thr325=) c.717G>T (p.Thr239=) c.876G>T (p.Thr292=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351269C>A | CA391933586 | SPRED1 | c.940C>A (p.Gln314Lys) c.976C>A (p.Gln326Lys) c.718C>A (p.Gln240Lys) c.877C>A (p.Gln293Lys) | gnomAD v4 |
| 15 | g.38351269C>G | CA391933587 | SPRED1 | c.940C>G (p.Gln314Glu) c.976C>G (p.Gln326Glu) c.718C>G (p.Gln240Glu) c.877C>G (p.Gln293Glu) | |
| 15 | g.38351269C>T | CA391933588 | SPRED1 | c.940C>T (p.Gln314Ter) c.976C>T (p.Gln326Ter) c.718C>T (p.Gln240Ter) c.877C>T (p.Gln293Ter) | |
| 15 | g.38351270A= | CA2170812643 | SPRED1 | c.941A= (p.Gln314=) c.977A= (p.Gln326=) c.719A= (p.Gln240=) c.878A= (p.Gln293=) | |
| 15 | g.38351270A>C | CA269293452 | SPRED1 | c.941A>C (p.Gln314Pro) c.977A>C (p.Gln326Pro) c.719A>C (p.Gln240Pro) c.878A>C (p.Gln293Pro) | dbSNP gnomAD v4 |
| 15 | g.38351270A>G | CA391933589 | SPRED1 | c.941A>G (p.Gln314Arg) c.977A>G (p.Gln326Arg) c.719A>G (p.Gln240Arg) c.878A>G (p.Gln293Arg) | |
| 15 | g.38351270A>T | CA391933590 | SPRED1 | c.941A>T (p.Gln314Leu) c.977A>T (p.Gln326Leu) c.719A>T (p.Gln240Leu) c.878A>T (p.Gln293Leu) | |
| 15 | g.38351271G>A | CA490012284 | SPRED1 | c.942G>A (p.Gln314=) c.978G>A (p.Gln326=) c.720G>A (p.Gln240=) c.879G>A (p.Gln293=) | gnomAD v4 |
| 15 | g.38351271G>C | CA391933592 | SPRED1 | c.942G>C (p.Gln314His) c.978G>C (p.Gln326His) c.720G>C (p.Gln240His) c.879G>C (p.Gln293His) | |
| 15 | g.38351271G>T | CA391933591 | SPRED1 | c.942G>T (p.Gln314His) c.978G>T (p.Gln326His) c.720G>T (p.Gln240His) c.879G>T (p.Gln293His) | |
| 15 | g.38351272C>A | CA391933593 | SPRED1 | c.943C>A (p.Pro315Thr) c.979C>A (p.Pro327Thr) c.721C>A (p.Pro241Thr) c.880C>A (p.Pro294Thr) | |
| 15 | g.38351272C>G | CA391933594 | SPRED1 | c.943C>G (p.Pro315Ala) c.979C>G (p.Pro327Ala) c.721C>G (p.Pro241Ala) c.880C>G (p.Pro294Ala) | gnomAD v4 |
| 15 | g.38351272C>T | CA391933595 | SPRED1 | c.943C>T (p.Pro315Ser) c.979C>T (p.Pro327Ser) c.721C>T (p.Pro241Ser) c.880C>T (p.Pro294Ser) | ClinVar |
| 15 | g.38351273C>A | CA391933596 | SPRED1 | c.944C>A (p.Pro315His) c.980C>A (p.Pro327His) c.722C>A (p.Pro241His) c.881C>A (p.Pro294His) | |
| 15 | g.38351273C= | CA2170812644 | SPRED1 | c.944C= (p.Pro315=) c.980C= (p.Pro327=) c.722C= (p.Pro241=) c.881C= (p.Pro294=) | |
| 15 | g.38351273C>G | CA391933597 | SPRED1 | c.944C>G (p.Pro315Arg) c.980C>G (p.Pro327Arg) c.722C>G (p.Pro241Arg) c.881C>G (p.Pro294Arg) | |
| 15 | g.38351273C>T | CA7470209 | SPRED1 | c.944C>T (p.Pro315Leu) c.980C>T (p.Pro327Leu) c.722C>T (p.Pro241Leu) c.881C>T (p.Pro294Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351274T>A | CA490012288 | SPRED1 | c.945T>A (p.Pro315=) c.981T>A (p.Pro327=) c.723T>A (p.Pro241=) c.882T>A (p.Pro294=) | |
| 15 | g.38351274T>C | CA490012291 | SPRED1 | c.945T>C (p.Pro315=) c.981T>C (p.Pro327=) c.723T>C (p.Pro241=) c.882T>C (p.Pro294=) | |
| 15 | g.38351274T>G | CA490012293 | SPRED1 | c.945T>G (p.Pro315=) c.981T>G (p.Pro327=) c.723T>G (p.Pro241=) c.882T>G (p.Pro294=) | COSMIC |
| 15 | g.38351275T>A | CA391933598 | SPRED1 | c.946T>A (p.Ser316Thr) c.982T>A (p.Ser328Thr) c.724T>A (p.Ser242Thr) c.883T>A (p.Ser295Thr) | |
| 15 | g.38351275T>C | CA391933599 | SPRED1 | c.946T>C (p.Ser316Pro) c.982T>C (p.Ser328Pro) c.724T>C (p.Ser242Pro) c.883T>C (p.Ser295Pro) | |
| 15 | g.38351275T>G | CA391933600 | SPRED1 | c.946T>G (p.Ser316Ala) c.982T>G (p.Ser328Ala) c.724T>G (p.Ser242Ala) c.883T>G (p.Ser295Ala) | |
| 15 | g.38351276C>A | CA391933601 | SPRED1 | c.947C>A (p.Ser316Tyr) c.983C>A (p.Ser328Tyr) c.725C>A (p.Ser242Tyr) c.884C>A (p.Ser295Tyr) | |
| 15 | g.38351276C>G | CA391933602 | SPRED1 | c.947C>G (p.Ser316Cys) c.983C>G (p.Ser328Cys) c.725C>G (p.Ser242Cys) c.884C>G (p.Ser295Cys) | |
| 15 | g.38351276C>T | CA391933603 | SPRED1 | c.947C>T (p.Ser316Phe) c.983C>T (p.Ser328Phe) c.725C>T (p.Ser242Phe) c.884C>T (p.Ser295Phe) | dbSNP |
| 15 | g.38351277C>A | CA490012302 | SPRED1 | c.948C>A (p.Ser316=) c.984C>A (p.Ser328=) c.726C>A (p.Ser242=) c.885C>A (p.Ser295=) | |
| 15 | g.38351277C= | CA2170812645 | SPRED1 | c.948C= (p.Ser316=) c.984C= (p.Ser328=) c.726C= (p.Ser242=) c.885C= (p.Ser295=) | |
| 15 | g.38351277C>G | CA490012305 | SPRED1 | c.948C>G (p.Ser316=) c.984C>G (p.Ser328=) c.726C>G (p.Ser242=) c.885C>G (p.Ser295=) | ClinVar dbSNP |
| 15 | g.38351277C>T | CA490012308 | SPRED1 | c.948C>T (p.Ser316=) c.984C>T (p.Ser328=) c.726C>T (p.Ser242=) c.885C>T (p.Ser295=) | |
| 15 | g.38351278T>A | CA391933605 | SPRED1 | c.949T>A (p.Ser317Thr) c.985T>A (p.Ser329Thr) c.727T>A (p.Ser243Thr) c.886T>A (p.Ser296Thr) | |
| 15 | g.38351278T>C | CA391933606 | SPRED1 | c.949T>C (p.Ser317Pro) c.985T>C (p.Ser329Pro) c.727T>C (p.Ser243Pro) c.886T>C (p.Ser296Pro) | |
| 15 | g.38351278T>G | CA391933604 | SPRED1 | c.949T>G (p.Ser317Ala) c.985T>G (p.Ser329Ala) c.727T>G (p.Ser243Ala) c.886T>G (p.Ser296Ala) | |
| 15 | g.38351279C>A | CA391933607 | SPRED1 | c.950C>A (p.Ser317Ter) c.986C>A (p.Ser329Ter) c.728C>A (p.Ser243Ter) c.887C>A (p.Ser296Ter) | |
| 15 | g.38351279C>G | CA391933608 | SPRED1 | c.950C>G (p.Ser317Ter) c.986C>G (p.Ser329Ter) c.728C>G (p.Ser243Ter) c.887C>G (p.Ser296Ter) | ClinVar |
| 15 | g.38351279C>T | CA391933609 | SPRED1 | c.950C>T (p.Ser317Leu) c.986C>T (p.Ser329Leu) c.728C>T (p.Ser243Leu) c.887C>T (p.Ser296Leu) | gnomAD v4 |