Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
15 | g.38351280A= | CA2170812646 | SPRED1 | c.951A= (p.Ser317=) c.987A= (p.Ser329=) c.729A= (p.Ser243=) c.888A= (p.Ser296=) | |
15 | g.38351280A>C | CA490012315 | SPRED1 | c.951A>C (p.Ser317=) c.987A>C (p.Ser329=) c.729A>C (p.Ser243=) c.888A>C (p.Ser296=) | |
15 | g.38351280A>G | CA490012313 | SPRED1 | c.951A>G (p.Ser317=) c.987A>G (p.Ser329=) c.729A>G (p.Ser243=) c.888A>G (p.Ser296=) | dbSNP |
15 | g.38351280A>T | CA269293453 | SPRED1 | c.951A>T (p.Ser317=) c.987A>T (p.Ser329=) c.729A>T (p.Ser243=) c.888A>T (p.Ser296=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351281T>A | CA391933610 | SPRED1 | c.952T>A (p.Leu318Ile) c.988T>A (p.Leu330Ile) c.730T>A (p.Leu244Ile) c.889T>A (p.Leu297Ile) | |
15 | g.38351281T>C | CA490012317 | SPRED1 | c.952T>C (p.Leu318=) c.988T>C (p.Leu330=) c.730T>C (p.Leu244=) c.889T>C (p.Leu297=) | |
15 | g.38351281T>G | CA391933611 | SPRED1 | c.952T>G (p.Leu318Val) c.988T>G (p.Leu330Val) c.730T>G (p.Leu244Val) c.889T>G (p.Leu297Val) | |
15 | g.38351282T>A | CA391933614 | SPRED1 | c.953T>A (p.Leu318Ter) c.989T>A (p.Leu330Ter) c.731T>A (p.Leu244Ter) c.890T>A (p.Leu297Ter) | COSMIC |
15 | g.38351282T>C | CA391933612 | SPRED1 | c.953T>C (p.Leu318Ser) c.989T>C (p.Leu330Ser) c.731T>C (p.Leu244Ser) c.890T>C (p.Leu297Ser) | |
15 | g.38351282T>G | CA391933613 | SPRED1 | c.953T>G (p.Leu318Ter) c.989T>G (p.Leu330Ter) c.731T>G (p.Leu244Ter) c.890T>G (p.Leu297Ter) | |
15 | g.38351283A= | CA2170812647 | SPRED1 | c.954A= (p.Leu318=) c.990A= (p.Leu330=) c.732A= (p.Leu244=) c.891A= (p.Leu297=) | |
15 | g.38351283A>C | CA391933615 | SPRED1 | c.954A>C (p.Leu318Phe) c.990A>C (p.Leu330Phe) c.732A>C (p.Leu244Phe) c.891A>C (p.Leu297Phe) | |
15 | g.38351283A>G | CA7470210 | SPRED1 | c.954A>G (p.Leu318=) c.990A>G (p.Leu330=) c.732A>G (p.Leu244=) c.891A>G (p.Leu297=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38351283A>T | CA391933616 | SPRED1 | c.954A>T (p.Leu318Phe) c.990A>T (p.Leu330Phe) c.732A>T (p.Leu244Phe) c.891A>T (p.Leu297Phe) | COSMIC |
15 | g.38351287dup | CA2580089329 | SPRED1 | c.958dup (p.Ile320AsnfsTer2) c.994dup (p.Ile332AsnfsTer2) c.736dup (p.Ile246AsnfsTer2) c.895dup (p.Ile299AsnfsTer2) | ClinVar |
15 | g.38351284A>C | CA391933617 | SPRED1 | c.955A>C (p.Lys319Gln) c.991A>C (p.Lys331Gln) c.733A>C (p.Lys245Gln) c.892A>C (p.Lys298Gln) | |
15 | g.38351284A>G | CA391933618 | SPRED1 | c.955A>G (p.Lys319Glu) c.991A>G (p.Lys331Glu) c.733A>G (p.Lys245Glu) c.892A>G (p.Lys298Glu) | |
15 | g.38351284A>T | CA391933619 | SPRED1 | c.955A>T (p.Lys319Ter) c.991A>T (p.Lys331Ter) c.733A>T (p.Lys245Ter) c.892A>T (p.Lys298Ter) | |
15 | g.38351285A>C | CA391933622 | SPRED1 | c.956A>C (p.Lys319Thr) c.992A>C (p.Lys331Thr) c.734A>C (p.Lys245Thr) c.893A>C (p.Lys298Thr) | |
15 | g.38351285A>G | CA391933621 | SPRED1 | c.956A>G (p.Lys319Arg) c.992A>G (p.Lys331Arg) c.734A>G (p.Lys245Arg) c.893A>G (p.Lys298Arg) | |
15 | g.38351285A>T | CA391933620 | SPRED1 | c.956A>T (p.Lys319Ile) c.992A>T (p.Lys331Ile) c.734A>T (p.Lys245Ile) c.893A>T (p.Lys298Ile) | |
15 | g.38351286A>C | CA391933623 | SPRED1 | c.957A>C (p.Lys319Asn) c.993A>C (p.Lys331Asn) c.735A>C (p.Lys245Asn) c.894A>C (p.Lys298Asn) | gnomAD v4 |
15 | g.38351286A>G | CA490012330 | SPRED1 | c.957A>G (p.Lys319=) c.993A>G (p.Lys331=) c.735A>G (p.Lys245=) c.894A>G (p.Lys298=) | |
15 | g.38351286A>T | CA391933624 | SPRED1 | c.957A>T (p.Lys319Asn) c.993A>T (p.Lys331Asn) c.735A>T (p.Lys245Asn) c.894A>T (p.Lys298Asn) | |
15 | g.38351287A>C | CA391933625 | SPRED1 | c.958A>C (p.Ile320Leu) c.994A>C (p.Ile332Leu) c.736A>C (p.Ile246Leu) c.895A>C (p.Ile299Leu) | gnomAD v4 |
15 | g.38351287A>G | CA391933626 | SPRED1 | c.958A>G (p.Ile320Val) c.994A>G (p.Ile332Val) c.736A>G (p.Ile246Val) c.895A>G (p.Ile299Val) | ClinVar |
15 | g.38351287A>T | CA391933627 | SPRED1 | c.958A>T (p.Ile320Phe) c.994A>T (p.Ile332Phe) c.736A>T (p.Ile246Phe) c.895A>T (p.Ile299Phe) | |
15 | g.38351288T>A | CA391933628 | SPRED1 | c.959T>A (p.Ile320Asn) c.995T>A (p.Ile332Asn) c.737T>A (p.Ile246Asn) c.896T>A (p.Ile299Asn) | |
15 | g.38351288T>C | CA391933629 | SPRED1 | c.959T>C (p.Ile320Thr) c.995T>C (p.Ile332Thr) c.737T>C (p.Ile246Thr) c.896T>C (p.Ile299Thr) | |
15 | g.38351288T>G | CA391933630 | SPRED1 | c.959T>G (p.Ile320Ser) c.995T>G (p.Ile332Ser) c.737T>G (p.Ile246Ser) c.896T>G (p.Ile299Ser) | |
15 | g.38351289_38351296del | CA645591363 | SPRED1 | c.960_967del (p.Lys322ThrfsTer7) c.996_1003del (p.Lys334ThrfsTer7) c.738_745del (p.Lys248ThrfsTer7) c.897_904del (p.Lys301ThrfsTer7) | COSMIC |
15 | g.38351289T>A | CA490012335 | SPRED1 | c.960T>A (p.Ile320=) c.996T>A (p.Ile332=) c.738T>A (p.Ile246=) c.897T>A (p.Ile299=) | |
15 | g.38351289T>C | CA490012336 | SPRED1 | c.960T>C (p.Ile320=) c.996T>C (p.Ile332=) c.738T>C (p.Ile246=) c.897T>C (p.Ile299=) | gnomAD v4 |
15 | g.38351289T>G | CA391933631 | SPRED1 | c.960T>G (p.Ile320Met) c.996T>G (p.Ile332Met) c.738T>G (p.Ile246Met) c.897T>G (p.Ile299Met) | |
15 | g.38351290A>C | CA391933632 | SPRED1 | c.961A>C (p.Lys321Gln) c.997A>C (p.Lys333Gln) c.739A>C (p.Lys247Gln) c.898A>C (p.Lys300Gln) | |
15 | g.38351290A>G | CA391933633 | SPRED1 | c.961A>G (p.Lys321Glu) c.997A>G (p.Lys333Glu) c.739A>G (p.Lys247Glu) c.898A>G (p.Lys300Glu) | |
15 | g.38351290A>T | CA391933634 | SPRED1 | c.961A>T (p.Lys321Ter) c.997A>T (p.Lys333Ter) c.739A>T (p.Lys247Ter) c.898A>T (p.Lys300Ter) | |
15 | g.38351291A>C | CA391933635 | SPRED1 | c.962A>C (p.Lys321Thr) c.998A>C (p.Lys333Thr) c.740A>C (p.Lys247Thr) c.899A>C (p.Lys300Thr) | ClinVar |
15 | g.38351291A>G | CA391933636 | SPRED1 | c.962A>G (p.Lys321Arg) c.998A>G (p.Lys333Arg) c.740A>G (p.Lys247Arg) c.899A>G (p.Lys300Arg) | ClinVar |
15 | g.38351291A>T | CA391933637 | SPRED1 | c.962A>T (p.Lys321Met) c.998A>T (p.Lys333Met) c.740A>T (p.Lys247Met) c.899A>T (p.Lys300Met) | |
15 | g.38351291_38351297delinsAGAAGTC | CA2170812648 | SPRED1 | c.962_968delinsAGAAGTC (p.Lys321=) c.998_1004delinsAGAAGTC (p.Lys333=) c.740_746delinsAGAAGTC (p.Lys247=) c.899_905delinsAGAAGTC (p.Lys300=) | |
15 | g.38351292G>A | CA7470212 | SPRED1 | c.963G>A (p.Lys321=) c.999G>A (p.Lys333=) c.741G>A (p.Lys247=) c.900G>A (p.Lys300=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351292G>C | CA391933639 | SPRED1 | c.963G>C (p.Lys321Asn) c.999G>C (p.Lys333Asn) c.741G>C (p.Lys247Asn) c.900G>C (p.Lys300Asn) | ClinVar |
15 | g.38351292G= | CA2170812649 | SPRED1 | c.963G= (p.Lys321=) c.999G= (p.Lys333=) c.741G= (p.Lys247=) c.900G= (p.Lys300=) | |
15 | g.38351292G>T | CA391933638 | SPRED1 | c.963G>T (p.Lys321Asn) c.999G>T (p.Lys333Asn) c.741G>T (p.Lys247Asn) c.900G>T (p.Lys300Asn) | |
15 | g.38351292_38351297del | CA7470211 | SPRED1 | c.963_968del (p.Lys322_Ser323del) c.999_1004del (p.Lys334_Ser335del) c.741_746del (p.Lys248_Ser249del) c.900_905del (p.Lys301_Ser302del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38351293A>C | CA391933640 | SPRED1 | c.964A>C (p.Lys322Gln) c.1000A>C (p.Lys334Gln) c.742A>C (p.Lys248Gln) c.901A>C (p.Lys301Gln) | |
15 | g.38351293A>G | CA391933641 | SPRED1 | c.964A>G (p.Lys322Glu) c.1000A>G (p.Lys334Glu) c.742A>G (p.Lys248Glu) c.901A>G (p.Lys301Glu) | gnomAD v4 |
15 | g.38351293A>T | CA391933642 | SPRED1 | c.964A>T (p.Lys322Ter) c.1000A>T (p.Lys334Ter) c.742A>T (p.Lys248Ter) c.901A>T (p.Lys301Ter) | ClinVar |
15 | g.38351294A= | CA2170812650 | SPRED1 | c.965A= (p.Lys322=) c.1001A= (p.Lys334=) c.743A= (p.Lys248=) c.902A= (p.Lys301=) | |
15 | g.38351294A>C | CA391933643 | SPRED1 | c.965A>C (p.Lys322Thr) c.1001A>C (p.Lys334Thr) c.743A>C (p.Lys248Thr) c.902A>C (p.Lys301Thr) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351294A>G | CA391933644 | SPRED1 | c.965A>G (p.Lys322Arg) c.1001A>G (p.Lys334Arg) c.743A>G (p.Lys248Arg) c.902A>G (p.Lys301Arg) | |
15 | g.38351294A>T | CA391933645 | SPRED1 | c.965A>T (p.Lys322Met) c.1001A>T (p.Lys334Met) c.743A>T (p.Lys248Met) c.902A>T (p.Lys301Met) | |
15 | g.38351295G>A | CA490012350 | SPRED1 | c.966G>A (p.Lys322=) c.1002G>A (p.Lys334=) c.744G>A (p.Lys248=) c.903G>A (p.Lys301=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
15 | g.38351295G>C | CA391933646 | SPRED1 | c.966G>C (p.Lys322Asn) c.1002G>C (p.Lys334Asn) c.744G>C (p.Lys248Asn) c.903G>C (p.Lys301Asn) | |
15 | g.38351295G= | CA2170812651 | SPRED1 | c.966G= (p.Lys322=) c.1002G= (p.Lys334=) c.744G= (p.Lys248=) c.903G= (p.Lys301=) | |
15 | g.38351295G>T | CA391933647 | SPRED1 | c.966G>T (p.Lys322Asn) c.1002G>T (p.Lys334Asn) c.744G>T (p.Lys248Asn) c.903G>T (p.Lys301Asn) | |
15 | g.38351296T>A | CA391933648 | SPRED1 | c.967T>A (p.Ser323Thr) c.1003T>A (p.Ser335Thr) c.745T>A (p.Ser249Thr) c.904T>A (p.Ser302Thr) | |
15 | g.38351296T>C | CA391933649 | SPRED1 | c.967T>C (p.Ser323Pro) c.1003T>C (p.Ser335Pro) c.745T>C (p.Ser249Pro) c.904T>C (p.Ser302Pro) | |
15 | g.38351296T>G | CA391933650 | SPRED1 | c.967T>G (p.Ser323Ala) c.1003T>G (p.Ser335Ala) c.745T>G (p.Ser249Ala) c.904T>G (p.Ser302Ala) | ClinVar |
15 | g.38351296_38351310delinsTCAAAACGAAGAAAA | CA2170812652 | SPRED1 | c.967_981delinsTCAAAACGAAGAAAA (p.Ser323=) c.1003_1017delinsTCAAAACGAAGAAAA (p.Ser335=) c.745_759delinsTCAAAACGAAGAAAA (p.Ser249=) c.904_918delinsTCAAAACGAAGAAAA (p.Ser302=) | |
15 | g.38351297C>A | CA391933653 | SPRED1 | c.968C>A (p.Ser323Ter) c.1004C>A (p.Ser335Ter) c.746C>A (p.Ser249Ter) c.905C>A (p.Ser302Ter) | |
15 | g.38351297C>G | CA391933651 | SPRED1 | c.968C>G (p.Ser323Ter) c.1004C>G (p.Ser335Ter) c.746C>G (p.Ser249Ter) c.905C>G (p.Ser302Ter) | |
15 | g.38351297C>T | CA391933652 | SPRED1 | c.968C>T (p.Ser323Leu) c.1004C>T (p.Ser335Leu) c.746C>T (p.Ser249Leu) c.905C>T (p.Ser302Leu) | |
15 | g.38351297_38351310del | CA2170812653 | SPRED1 | c.968_981del (p.Ser323Ter) c.1004_1017del (p.Ser335Ter) c.746_759del (p.Ser249Ter) c.905_918del (p.Ser302Ter) | dbSNP |
15 | g.38351298A>C | CA490012355 | SPRED1 | c.969A>C (p.Ser323=) c.1005A>C (p.Ser335=) c.747A>C (p.Ser249=) c.906A>C (p.Ser302=) | |
15 | g.38351298A>G | CA490012356 | SPRED1 | c.969A>G (p.Ser323=) c.1005A>G (p.Ser335=) c.747A>G (p.Ser249=) c.906A>G (p.Ser302=) | |
15 | g.38351298A>T | CA490012357 | SPRED1 | c.969A>T (p.Ser323=) c.1005A>T (p.Ser335=) c.747A>T (p.Ser249=) c.906A>T (p.Ser302=) | |
15 | g.38351299A>C | CA391933654 | SPRED1 | c.970A>C (p.Lys324Gln) c.1006A>C (p.Lys336Gln) c.748A>C (p.Lys250Gln) c.907A>C (p.Lys303Gln) | |
15 | g.38351299A>G | CA391933655 | SPRED1 | c.970A>G (p.Lys324Glu) c.1006A>G (p.Lys336Glu) c.748A>G (p.Lys250Glu) c.907A>G (p.Lys303Glu) | COSMIC |
15 | g.38351299A>T | CA391933656 | SPRED1 | c.970A>T (p.Lys324Ter) c.1006A>T (p.Lys336Ter) c.748A>T (p.Lys250Ter) c.907A>T (p.Lys303Ter) | |
15 | g.38351300A>C | CA391933657 | SPRED1 | c.971A>C (p.Lys324Thr) c.1007A>C (p.Lys336Thr) c.749A>C (p.Lys250Thr) c.908A>C (p.Lys303Thr) | |
15 | g.38351300A>G | CA391933658 | SPRED1 | c.971A>G (p.Lys324Arg) c.1007A>G (p.Lys336Arg) c.749A>G (p.Lys250Arg) c.908A>G (p.Lys303Arg) | |
15 | g.38351300A>T | CA391933659 | SPRED1 | c.971A>T (p.Lys324Ile) c.1007A>T (p.Lys336Ile) c.749A>T (p.Lys250Ile) c.908A>T (p.Lys303Ile) | |
15 | g.38351301A= | CA2170812654 | SPRED1 | c.972A= (p.Lys324=) c.1008A= (p.Lys336=) c.750A= (p.Lys250=) c.909A= (p.Lys303=) | |
15 | g.38351301A>C | CA391933660 | SPRED1 | c.972A>C (p.Lys324Asn) c.1008A>C (p.Lys336Asn) c.750A>C (p.Lys250Asn) c.909A>C (p.Lys303Asn) | gnomAD v4 |
15 | g.38351301A>G | CA490012361 | SPRED1 | c.972A>G (p.Lys324=) c.1008A>G (p.Lys336=) c.750A>G (p.Lys250=) c.909A>G (p.Lys303=) | dbSNP gnomAD v4 |
15 | g.38351301A>T | CA391933661 | SPRED1 | c.972A>T (p.Lys324Asn) c.1008A>T (p.Lys336Asn) c.750A>T (p.Lys250Asn) c.909A>T (p.Lys303Asn) | |
15 | g.38351302C>A | CA490012362 | SPRED1 | c.973C>A (p.Arg325=) c.1009C>A (p.Arg337=) c.751C>A (p.Arg251=) c.910C>A (p.Arg304=) | |
15 | g.38351302C= | CA2170812655 | SPRED1 | c.973C= (p.Arg325=) c.1009C= (p.Arg337=) c.751C= (p.Arg251=) c.910C= (p.Arg304=) | |
15 | g.38351302C>G | CA391933662 | SPRED1 | c.973C>G (p.Arg325Gly) c.1009C>G (p.Arg337Gly) c.751C>G (p.Arg251Gly) c.910C>G (p.Arg304Gly) | ClinVar dbSNP |
15 | g.38351302C>T | CA16043687 | SPRED1 | c.973C>T (p.Arg325Ter) c.1009C>T (p.Arg337Ter) c.751C>T (p.Arg251Ter) c.910C>T (p.Arg304Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351303G>A | CA391933663 | SPRED1 | c.974G>A (p.Arg325Gln) c.1010G>A (p.Arg337Gln) c.752G>A (p.Arg251Gln) c.911G>A (p.Arg304Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
15 | g.38351303G>C | CA391933664 | SPRED1 | c.974G>C (p.Arg325Pro) c.1010G>C (p.Arg337Pro) c.752G>C (p.Arg251Pro) c.911G>C (p.Arg304Pro) | |
15 | g.38351303G= | CA2170812656 | SPRED1 | c.974G= (p.Arg325=) c.1010G= (p.Arg337=) c.752G= (p.Arg251=) c.911G= (p.Arg304=) | |
15 | g.38351303G>T | CA391933665 | SPRED1 | c.974G>T (p.Arg325Leu) c.1010G>T (p.Arg337Leu) c.752G>T (p.Arg251Leu) c.911G>T (p.Arg304Leu) | |
15 | g.38351304A= | CA2170812657 | SPRED1 | c.975A= (p.Arg325=) c.1011A= (p.Arg337=) c.753A= (p.Arg251=) c.912A= (p.Arg304=) | |
15 | g.38351304A>C | CA490012366 | SPRED1 | c.975A>C (p.Arg325=) c.1011A>C (p.Arg337=) c.753A>C (p.Arg251=) c.912A>C (p.Arg304=) | |
15 | g.38351304A>G | CA490012364 | SPRED1 | c.975A>G (p.Arg325=) c.1011A>G (p.Arg337=) c.753A>G (p.Arg251=) c.912A>G (p.Arg304=) | dbSNP |
15 | g.38351304A>T | CA490012365 | SPRED1 | c.975A>T (p.Arg325=) c.1011A>T (p.Arg337=) c.753A>T (p.Arg251=) c.912A>T (p.Arg304=) | |
15 | g.38351305A= | CA2170812658 | SPRED1 | c.976A= (p.Arg326=) c.1012A= (p.Arg338=) c.754A= (p.Arg252=) c.913A= (p.Arg305=) | |
15 | g.38351305A>C | CA490012367 | SPRED1 | c.976A>C (p.Arg326=) c.1012A>C (p.Arg338=) c.754A>C (p.Arg252=) c.913A>C (p.Arg305=) | gnomAD v4 |
15 | g.38351305A>G | CA391933667 | SPRED1 | c.976A>G (p.Arg326Gly) c.1012A>G (p.Arg338Gly) c.754A>G (p.Arg252Gly) c.913A>G (p.Arg305Gly) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351305A>T | CA391933666 | SPRED1 | c.976A>T (p.Arg326Ter) c.1012A>T (p.Arg338Ter) c.754A>T (p.Arg252Ter) c.913A>T (p.Arg305Ter) | |
15 | g.38351306G>A | CA391933668 | SPRED1 | c.977G>A (p.Arg326Lys) c.1013G>A (p.Arg338Lys) c.755G>A (p.Arg252Lys) c.914G>A (p.Arg305Lys) | |
15 | g.38351306G>C | CA7470213 | SPRED1 | c.977G>C (p.Arg326Thr) c.1013G>C (p.Arg338Thr) c.755G>C (p.Arg252Thr) c.914G>C (p.Arg305Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38351306G= | CA2170812659 | SPRED1 | c.977G= (p.Arg326=) c.1013G= (p.Arg338=) c.755G= (p.Arg252=) c.914G= (p.Arg305=) | |
15 | g.38351306G>T | CA391933669 | SPRED1 | c.977G>T (p.Arg326Ile) c.1013G>T (p.Arg338Ile) c.755G>T (p.Arg252Ile) c.914G>T (p.Arg305Ile) | |
15 | g.38351307A= | CA2170812660 | SPRED1 | c.978A= (p.Arg326=) c.1014A= (p.Arg338=) c.756A= (p.Arg252=) c.915A= (p.Arg305=) | |
15 | g.38351307A>C | CA391933670 | SPRED1 | c.978A>C (p.Arg326Ser) c.1014A>C (p.Arg338Ser) c.756A>C (p.Arg252Ser) c.915A>C (p.Arg305Ser) | |
15 | g.38351307A>G | CA269293454 | SPRED1 | c.978A>G (p.Arg326=) c.1014A>G (p.Arg338=) c.756A>G (p.Arg252=) c.915A>G (p.Arg305=) | dbSNP |
15 | g.38351307A>T | CA391933671 | SPRED1 | c.978A>T (p.Arg326Ser) c.1014A>T (p.Arg338Ser) c.756A>T (p.Arg252Ser) c.915A>T (p.Arg305Ser) | |
15 | g.38351309_38351310del | CA2627716207 | SPRED1 | c.980_981del (p.Lys327ArgfsTer4) c.1016_1017del (p.Lys339ArgfsTer4) c.758_759del (p.Lys253ArgfsTer4) c.917_918del (p.Lys306ArgfsTer4) | gnomAD v4 |
15 | g.38351308A>C | CA391933672 | SPRED1 | c.979A>C (p.Lys327Gln) c.1015A>C (p.Lys339Gln) c.757A>C (p.Lys253Gln) c.916A>C (p.Lys306Gln) | |
15 | g.38351308A>G | CA391933673 | SPRED1 | c.979A>G (p.Lys327Glu) c.1015A>G (p.Lys339Glu) c.757A>G (p.Lys253Glu) c.916A>G (p.Lys306Glu) | |
15 | g.38351308A>T | CA391933674 | SPRED1 | c.979A>T (p.Lys327Ter) c.1015A>T (p.Lys339Ter) c.757A>T (p.Lys253Ter) c.916A>T (p.Lys306Ter) | |
15 | g.38351309A>C | CA391933675 | SPRED1 | c.980A>C (p.Lys327Thr) c.1016A>C (p.Lys339Thr) c.758A>C (p.Lys253Thr) c.917A>C (p.Lys306Thr) | |
15 | g.38351309A>G | CA391933676 | SPRED1 | c.980A>G (p.Lys327Arg) c.1016A>G (p.Lys339Arg) c.758A>G (p.Lys253Arg) c.917A>G (p.Lys306Arg) | |
15 | g.38351309A>T | CA391933677 | SPRED1 | c.980A>T (p.Lys327Ile) c.1016A>T (p.Lys339Ile) c.758A>T (p.Lys253Ile) c.917A>T (p.Lys306Ile) | |
15 | g.38351310A>C | CA391933678 | SPRED1 | c.981A>C (p.Lys327Asn) c.1017A>C (p.Lys339Asn) c.759A>C (p.Lys253Asn) c.918A>C (p.Lys306Asn) | |
15 | g.38351310A>G | CA490012374 | SPRED1 | c.981A>G (p.Lys327=) c.1017A>G (p.Lys339=) c.759A>G (p.Lys253=) c.918A>G (p.Lys306=) | |
15 | g.38351310A>T | CA391933679 | SPRED1 | c.981A>T (p.Lys327Asn) c.1017A>T (p.Lys339Asn) c.759A>T (p.Lys253Asn) c.918A>T (p.Lys306Asn) | |
15 | g.38351311G>A | CA391933682 | SPRED1 | c.982G>A (p.Glu328Lys) c.1018G>A (p.Glu340Lys) c.760G>A (p.Glu254Lys) c.919G>A (p.Glu307Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351311G>C | CA391933680 | SPRED1 | c.982G>C (p.Glu328Gln) c.1018G>C (p.Glu340Gln) c.760G>C (p.Glu254Gln) c.919G>C (p.Glu307Gln) | |
15 | g.38351311G= | CA2170812661 | SPRED1 | c.982G= (p.Glu328=) c.1018G= (p.Glu340=) c.760G= (p.Glu254=) c.919G= (p.Glu307=) | |
15 | g.38351311G>T | CA391933681 | SPRED1 | c.982G>T (p.Glu328Ter) c.1018G>T (p.Glu340Ter) c.760G>T (p.Glu254Ter) c.919G>T (p.Glu307Ter) | COSMIC |
15 | g.38351312A>C | CA391933683 | SPRED1 | c.983A>C (p.Glu328Ala) c.1019A>C (p.Glu340Ala) c.761A>C (p.Glu254Ala) c.920A>C (p.Glu307Ala) | |
15 | g.38351312A>G | CA391933684 | SPRED1 | c.983A>G (p.Glu328Gly) c.1019A>G (p.Glu340Gly) c.761A>G (p.Glu254Gly) c.920A>G (p.Glu307Gly) | |
15 | g.38351312A>T | CA391933685 | SPRED1 | c.983A>T (p.Glu328Val) c.1019A>T (p.Glu340Val) c.761A>T (p.Glu254Val) c.920A>T (p.Glu307Val) | |
15 | g.38351313G>A | CA490012377 | SPRED1 | c.984G>A (p.Glu328=) c.1020G>A (p.Glu340=) c.762G>A (p.Glu254=) c.921G>A (p.Glu307=) | ClinVar |
15 | g.38351313G>C | CA391933686 | SPRED1 | c.984G>C (p.Glu328Asp) c.1020G>C (p.Glu340Asp) c.762G>C (p.Glu254Asp) c.921G>C (p.Glu307Asp) | |
15 | g.38351313G>T | CA391933687 | SPRED1 | c.984G>T (p.Glu328Asp) c.1020G>T (p.Glu340Asp) c.762G>T (p.Glu254Asp) c.921G>T (p.Glu307Asp) | |
15 | g.38351314G>A | CA269293455 | SPRED1 | c.985G>A (p.Asp329Asn) c.1021G>A (p.Asp341Asn) c.763G>A (p.Asp255Asn) c.922G>A (p.Asp308Asn) | dbSNP gnomAD v4 |
15 | g.38351314G>C | CA7470214 | SPRED1 | c.985G>C (p.Asp329His) c.1021G>C (p.Asp341His) c.763G>C (p.Asp255His) c.922G>C (p.Asp308His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351314G= | CA2170812662 | SPRED1 | c.985G= (p.Asp329=) c.1021G= (p.Asp341=) c.763G= (p.Asp255=) c.922G= (p.Asp308=) | |
15 | g.38351314G>T | CA391933688 | SPRED1 | c.985G>T (p.Asp329Tyr) c.1021G>T (p.Asp341Tyr) c.763G>T (p.Asp255Tyr) c.922G>T (p.Asp308Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351315A= | CA2170812663 | SPRED1 | c.986A= (p.Asp329=) c.1022A= (p.Asp341=) c.764A= (p.Asp255=) c.923A= (p.Asp308=) | |
15 | g.38351315A>C | CA391933689 | SPRED1 | c.986A>C (p.Asp329Ala) c.1022A>C (p.Asp341Ala) c.764A>C (p.Asp255Ala) c.923A>C (p.Asp308Ala) | |
15 | g.38351315A>G | CA391933690 | SPRED1 | c.986A>G (p.Asp329Gly) c.1022A>G (p.Asp341Gly) c.764A>G (p.Asp255Gly) c.923A>G (p.Asp308Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351315A>T | CA391933691 | SPRED1 | c.986A>T (p.Asp329Val) c.1022A>T (p.Asp341Val) c.764A>T (p.Asp255Val) c.923A>T (p.Asp308Val) | |
15 | g.38351316T>A | CA391933692 | SPRED1 | c.987T>A (p.Asp329Glu) c.1023T>A (p.Asp341Glu) c.765T>A (p.Asp255Glu) c.924T>A (p.Asp308Glu) | dbSNP |
15 | g.38351316T>C | CA490012379 | SPRED1 | c.987T>C (p.Asp329=) c.1023T>C (p.Asp341=) c.765T>C (p.Asp255=) c.924T>C (p.Asp308=) | |
15 | g.38351316T>G | CA391933693 | SPRED1 | c.987T>G (p.Asp329Glu) c.1023T>G (p.Asp341Glu) c.765T>G (p.Asp255Glu) c.924T>G (p.Asp308Glu) | |
15 | g.38351316T= | CA2170812664 | SPRED1 | c.987T= (p.Asp329=) c.1023T= (p.Asp341=) c.765T= (p.Asp255=) c.924T= (p.Asp308=) | |
15 | g.38351317G>A | CA391933696 | SPRED1 | c.988G>A (p.Gly330Ser) c.1024G>A (p.Gly342Ser) c.766G>A (p.Gly256Ser) c.925G>A (p.Gly309Ser) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351317G>C | CA391933695 | SPRED1 | c.988G>C (p.Gly330Arg) c.1024G>C (p.Gly342Arg) c.766G>C (p.Gly256Arg) c.925G>C (p.Gly309Arg) | |
15 | g.38351317G= | CA2170812665 | SPRED1 | c.988G= (p.Gly330=) c.1024G= (p.Gly342=) c.766G= (p.Gly256=) c.925G= (p.Gly309=) | |
15 | g.38351317G>T | CA391933694 | SPRED1 | c.988G>T (p.Gly330Cys) c.1024G>T (p.Gly342Cys) c.766G>T (p.Gly256Cys) c.925G>T (p.Gly309Cys) | |
15 | g.38351318del | CA658761242 | SPRED1 | c.989del (p.Gly330ValfsTer?) c.1025del (p.Gly342ValfsTer?) c.767del (p.Gly256ValfsTer?) c.926del (p.Gly309ValfsTer?) | |
15 | g.38351317_38351329delinsGGTGAACGTTCTC | CA2170812666 | SPRED1 | c.988_1000delinsGGTGAACGTTCTC (p.Gly330=) c.1024_1036delinsGGTGAACGTTCTC (p.Gly342=) c.766_778delinsGGTGAACGTTCTC (p.Gly256=) c.925_937delinsGGTGAACGTTCTC (p.Gly309=) | |
15 | g.38351318G>A | CA391933697 | SPRED1 | c.989G>A (p.Gly330Asp) c.1025G>A (p.Gly342Asp) c.767G>A (p.Gly256Asp) c.926G>A (p.Gly309Asp) | ClinVar dbSNP gnomAD v4 |
15 | g.38351318G>C | CA391933698 | SPRED1 | c.989G>C (p.Gly330Ala) c.1025G>C (p.Gly342Ala) c.767G>C (p.Gly256Ala) c.926G>C (p.Gly309Ala) | |
15 | g.38351318G= | CA2170812668 | SPRED1 | c.989G= (p.Gly330=) c.1025G= (p.Gly342=) c.767G= (p.Gly256=) c.926G= (p.Gly309=) | |
15 | g.38351318G>T | CA391933699 | SPRED1 | c.989G>T (p.Gly330Val) c.1025G>T (p.Gly342Val) c.767G>T (p.Gly256Val) c.926G>T (p.Gly309Val) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351319_38351330del | CA2170812667 | SPRED1 | c.990_1001del (p.Glu331_Arg334del) c.1026_1037del (p.Glu343_Arg346del) c.768_779del (p.Glu257_Arg260del) c.927_938del (p.Glu310_Arg313del) | dbSNP |
15 | g.38351319T>A | CA490012381 | SPRED1 | c.990T>A (p.Gly330=) c.1026T>A (p.Gly342=) c.768T>A (p.Gly256=) c.927T>A (p.Gly309=) | |
15 | g.38351319T>C | CA490012382 | SPRED1 | c.990T>C (p.Gly330=) c.1026T>C (p.Gly342=) c.768T>C (p.Gly256=) c.927T>C (p.Gly309=) | |
15 | g.38351319T>G | CA490012383 | SPRED1 | c.990T>G (p.Gly330=) c.1026T>G (p.Gly342=) c.768T>G (p.Gly256=) c.927T>G (p.Gly309=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351319T= | CA2170812669 | SPRED1 | c.990T= (p.Gly330=) c.1026T= (p.Gly342=) c.768T= (p.Gly256=) c.927T= (p.Gly309=) | |
15 | g.38351320G>A | CA391933700 | SPRED1 | c.991G>A (p.Glu331Lys) c.1027G>A (p.Glu343Lys) c.769G>A (p.Glu257Lys) c.928G>A (p.Glu310Lys) | |
15 | g.38351320G>C | CA391933701 | SPRED1 | c.991G>C (p.Glu331Gln) c.1027G>C (p.Glu343Gln) c.769G>C (p.Glu257Gln) c.928G>C (p.Glu310Gln) | |
15 | g.38351320G>T | CA391933702 | SPRED1 | c.991G>T (p.Glu331Ter) c.1027G>T (p.Glu343Ter) c.769G>T (p.Glu257Ter) c.928G>T (p.Glu310Ter) | |
15 | g.38351321A>C | CA391933703 | SPRED1 | c.992A>C (p.Glu331Ala) c.1028A>C (p.Glu343Ala) c.770A>C (p.Glu257Ala) c.929A>C (p.Glu310Ala) | |
15 | g.38351321A>G | CA391933704 | SPRED1 | c.992A>G (p.Glu331Gly) c.1028A>G (p.Glu343Gly) c.770A>G (p.Glu257Gly) c.929A>G (p.Glu310Gly) | gnomAD v4 |
15 | g.38351321A>T | CA391933705 | SPRED1 | c.992A>T (p.Glu331Val) c.1028A>T (p.Glu343Val) c.770A>T (p.Glu257Val) c.929A>T (p.Glu310Val) | |
15 | g.38351322dup | CA2695219958 | SPRED1 | c.993dup (p.Arg332ThrfsTer12) c.1029dup (p.Arg344ThrfsTer12) c.771dup (p.Arg258ThrfsTer12) c.930dup (p.Arg311ThrfsTer12) | |
15 | g.38351322A>C | CA391933706 | SPRED1 | c.993A>C (p.Glu331Asp) c.1029A>C (p.Glu343Asp) c.771A>C (p.Glu257Asp) c.930A>C (p.Glu310Asp) | |
15 | g.38351322A>G | CA490012387 | SPRED1 | c.993A>G (p.Glu331=) c.1029A>G (p.Glu343=) c.771A>G (p.Glu257=) c.930A>G (p.Glu310=) | ClinVar |
15 | g.38351322A>T | CA391933707 | SPRED1 | c.993A>T (p.Glu331Asp) c.1029A>T (p.Glu343Asp) c.771A>T (p.Glu257Asp) c.930A>T (p.Glu310Asp) | |
15 | g.38351323C>A | CA391933708 | SPRED1 | c.994C>A (p.Arg332Ser) c.1030C>A (p.Arg344Ser) c.772C>A (p.Arg258Ser) c.931C>A (p.Arg311Ser) | |
15 | g.38351323C= | CA2170812670 | SPRED1 | c.994C= (p.Arg332=) c.1030C= (p.Arg344=) c.772C= (p.Arg258=) c.931C= (p.Arg311=) | |
15 | g.38351323C>G | CA391933710 | SPRED1 | c.994C>G (p.Arg332Gly) c.1030C>G (p.Arg344Gly) c.772C>G (p.Arg258Gly) c.931C>G (p.Arg311Gly) | |
15 | g.38351323C>T | CA7470215 | SPRED1 | c.994C>T (p.Arg332Cys) c.1030C>T (p.Arg344Cys) c.772C>T (p.Arg258Cys) c.931C>T (p.Arg311Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38351324G>A | CA7470216 | SPRED1 | c.995G>A (p.Arg332His) c.1031G>A (p.Arg344His) c.773G>A (p.Arg258His) c.932G>A (p.Arg311His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351324G>C | CA391933716 | SPRED1 | c.995G>C (p.Arg332Pro) c.1031G>C (p.Arg344Pro) c.773G>C (p.Arg258Pro) c.932G>C (p.Arg311Pro) | |
15 | g.38351324G= | CA2170812671 | SPRED1 | c.995G= (p.Arg332=) c.1031G= (p.Arg344=) c.773G= (p.Arg258=) c.932G= (p.Arg311=) | |
15 | g.38351324G>T | CA391933713 | SPRED1 | c.995G>T (p.Arg332Leu) c.1031G>T (p.Arg344Leu) c.773G>T (p.Arg258Leu) c.932G>T (p.Arg311Leu) | |
15 | g.38351325T>A | CA490012391 | SPRED1 | c.996T>A (p.Arg332=) c.1032T>A (p.Arg344=) c.774T>A (p.Arg258=) c.933T>A (p.Arg311=) | |
15 | g.38351325T>C | CA490012392 | SPRED1 | c.996T>C (p.Arg332=) c.1032T>C (p.Arg344=) c.774T>C (p.Arg258=) c.933T>C (p.Arg311=) | |
15 | g.38351325T>G | CA490012393 | SPRED1 | c.996T>G (p.Arg332=) c.1032T>G (p.Arg344=) c.774T>G (p.Arg258=) c.933T>G (p.Arg311=) | |
15 | g.38351326T>A | CA391933718 | SPRED1 | c.997T>A (p.Ser333Thr) c.1033T>A (p.Ser345Thr) c.775T>A (p.Ser259Thr) c.934T>A (p.Ser312Thr) | |
15 | g.38351326T>C | CA391933719 | SPRED1 | c.997T>C (p.Ser333Pro) c.1033T>C (p.Ser345Pro) c.775T>C (p.Ser259Pro) c.934T>C (p.Ser312Pro) | |
15 | g.38351326T>G | CA391933720 | SPRED1 | c.997T>G (p.Ser333Ala) c.1033T>G (p.Ser345Ala) c.775T>G (p.Ser259Ala) c.934T>G (p.Ser312Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351326T= | CA2170812672 | SPRED1 | c.997T= (p.Ser333=) c.1033T= (p.Ser345=) c.775T= (p.Ser259=) c.934T= (p.Ser312=) | |
15 | g.38351327C>A | CA391933722 | SPRED1 | c.998C>A (p.Ser333Tyr) c.1034C>A (p.Ser345Tyr) c.776C>A (p.Ser259Tyr) c.935C>A (p.Ser312Tyr) | |
15 | g.38351327C>G | CA391933724 | SPRED1 | c.998C>G (p.Ser333Cys) c.1034C>G (p.Ser345Cys) c.776C>G (p.Ser259Cys) c.935C>G (p.Ser312Cys) | |
15 | g.38351327C>T | CA391933725 | SPRED1 | c.998C>T (p.Ser333Phe) c.1034C>T (p.Ser345Phe) c.776C>T (p.Ser259Phe) c.935C>T (p.Ser312Phe) | |
15 | g.38351328T>A | CA490012399 | SPRED1 | c.999T>A (p.Ser333=) c.1035T>A (p.Ser345=) c.777T>A (p.Ser259=) c.936T>A (p.Ser312=) | |
15 | g.38351328T>C | CA490012400 | SPRED1 | c.999T>C (p.Ser333=) c.1035T>C (p.Ser345=) c.777T>C (p.Ser259=) c.936T>C (p.Ser312=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351328T>G | CA490012402 | SPRED1 | c.999T>G (p.Ser333=) c.1035T>G (p.Ser345=) c.777T>G (p.Ser259=) c.936T>G (p.Ser312=) | |
15 | g.38351328T= | CA2170812673 | SPRED1 | c.999T= (p.Ser333=) c.1035T= (p.Ser345=) c.777T= (p.Ser259=) c.936T= (p.Ser312=) | |
15 | g.38351329C>A | CA391933727 | SPRED1 | c.1000C>A (p.Arg334Ser) c.1036C>A (p.Arg346Ser) c.778C>A (p.Arg260Ser) c.937C>A (p.Arg313Ser) | |
15 | g.38351329C= | CA2170812674 | SPRED1 | c.1000C= (p.Arg334=) c.1036C= (p.Arg346=) c.778C= (p.Arg260=) c.937C= (p.Arg313=) | |
15 | g.38351329C>G | CA391933729 | SPRED1 | c.1000C>G (p.Arg334Gly) c.1036C>G (p.Arg346Gly) c.778C>G (p.Arg260Gly) c.937C>G (p.Arg313Gly) | |
15 | g.38351329C>T | CA10641669 | SPRED1 | c.1000C>T (p.Arg334Cys) c.1036C>T (p.Arg346Cys) c.778C>T (p.Arg260Cys) c.937C>T (p.Arg313Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351330G>A | CA7470217 | SPRED1 | c.1001G>A (p.Arg334His) c.1037G>A (p.Arg346His) c.779G>A (p.Arg260His) c.938G>A (p.Arg313His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351330G>C | CA391933732 | SPRED1 | c.1001G>C (p.Arg334Pro) c.1037G>C (p.Arg346Pro) c.779G>C (p.Arg260Pro) c.938G>C (p.Arg313Pro) | gnomAD v4 |
15 | g.38351330G= | CA2170812675 | SPRED1 | c.1001G= (p.Arg334=) c.1037G= (p.Arg346=) c.779G= (p.Arg260=) c.938G= (p.Arg313=) | |
15 | g.38351330G>T | CA391933733 | SPRED1 | c.1001G>T (p.Arg334Leu) c.1037G>T (p.Arg346Leu) c.779G>T (p.Arg260Leu) c.938G>T (p.Arg313Leu) | dbSNP |
15 | g.38351331C>A | CA490012405 | SPRED1 | c.1002C>A (p.Arg334=) c.1038C>A (p.Arg346=) c.780C>A (p.Arg260=) c.939C>A (p.Arg313=) | |
15 | g.38351331C>G | CA490012406 | SPRED1 | c.1002C>G (p.Arg334=) c.1038C>G (p.Arg346=) c.780C>G (p.Arg260=) c.939C>G (p.Arg313=) | |
15 | g.38351331C>T | CA490012407 | SPRED1 | c.1002C>T (p.Arg334=) c.1038C>T (p.Arg346=) c.780C>T (p.Arg260=) c.939C>T (p.Arg313=) | |
15 | g.38351332del | CA2627716208 | SPRED1 | c.1003del (p.Cys335AlafsTer?) c.1039del (p.Cys347AlafsTer?) c.781del (p.Cys261AlafsTer?) c.940del (p.Cys314AlafsTer?) | gnomAD v4 |
15 | g.38351332T>A | CA391933738 | SPRED1 | c.1003T>A (p.Cys335Ser) c.1039T>A (p.Cys347Ser) c.781T>A (p.Cys261Ser) c.940T>A (p.Cys314Ser) | |
15 | g.38351332T>C | CA391933736 | SPRED1 | c.1003T>C (p.Cys335Arg) c.1039T>C (p.Cys347Arg) c.781T>C (p.Cys261Arg) c.940T>C (p.Cys314Arg) | |
15 | g.38351332T>G | CA391933735 | SPRED1 | c.1003T>G (p.Cys335Gly) c.1039T>G (p.Cys347Gly) c.781T>G (p.Cys261Gly) c.940T>G (p.Cys314Gly) | |
15 | g.38351333G>A | CA391933739 | SPRED1 | c.1004G>A (p.Cys335Tyr) c.1040G>A (p.Cys347Tyr) c.782G>A (p.Cys261Tyr) c.941G>A (p.Cys314Tyr) | |
15 | g.38351333G>C | CA391933741 | SPRED1 | c.1004G>C (p.Cys335Ser) c.1040G>C (p.Cys347Ser) c.782G>C (p.Cys261Ser) c.941G>C (p.Cys314Ser) | |
15 | g.38351333G>T | CA391933742 | SPRED1 | c.1004G>T (p.Cys335Phe) c.1040G>T (p.Cys347Phe) c.782G>T (p.Cys261Phe) c.941G>T (p.Cys314Phe) | |
15 | g.38351334C>A | CA391933744 | SPRED1 | c.1005C>A (p.Cys335Ter) c.1041C>A (p.Cys347Ter) c.783C>A (p.Cys261Ter) c.942C>A (p.Cys314Ter) | |
15 | g.38351334C= | CA2170812676 | SPRED1 | c.1005C= (p.Cys335=) c.1041C= (p.Cys347=) c.783C= (p.Cys261=) c.942C= (p.Cys314=) | |
15 | g.38351334C>G | CA391933745 | SPRED1 | c.1005C>G (p.Cys335Trp) c.1041C>G (p.Cys347Trp) c.783C>G (p.Cys261Trp) c.942C>G (p.Cys314Trp) | |
15 | g.38351334C>T | CA7470218 | SPRED1 | c.1005C>T (p.Cys335=) c.1041C>T (p.Cys347=) c.783C>T (p.Cys261=) c.942C>T (p.Cys314=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351335G>A | CA7470219 | SPRED1 | c.1006G>A (p.Val336Ile) c.1042G>A (p.Val348Ile) c.784G>A (p.Val262Ile) c.943G>A (p.Val315Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351335G>C | CA391933748 | SPRED1 | c.1006G>C (p.Val336Leu) c.1042G>C (p.Val348Leu) c.784G>C (p.Val262Leu) c.943G>C (p.Val315Leu) | |
15 | g.38351335G= | CA2170812677 | SPRED1 | c.1006G= (p.Val336=) c.1042G= (p.Val348=) c.784G= (p.Val262=) c.943G= (p.Val315=) | |
15 | g.38351335G>T | CA391933750 | SPRED1 | c.1006G>T (p.Val336Leu) c.1042G>T (p.Val348Leu) c.784G>T (p.Val262Leu) c.943G>T (p.Val315Leu) | |
15 | g.38351336T>A | CA391933751 | SPRED1 | c.1007T>A (p.Val336Glu) c.1043T>A (p.Val348Glu) c.785T>A (p.Val262Glu) c.944T>A (p.Val315Glu) | |
15 | g.38351336T>C | CA391933752 | SPRED1 | c.1007T>C (p.Val336Ala) c.1043T>C (p.Val348Ala) c.785T>C (p.Val262Ala) c.944T>C (p.Val315Ala) | |
15 | g.38351336T>G | CA391933753 | SPRED1 | c.1007T>G (p.Val336Gly) c.1043T>G (p.Val348Gly) c.785T>G (p.Val262Gly) c.944T>G (p.Val315Gly) | |
15 | g.38351337A= | CA2170812678 | SPRED1 | c.1008A= (p.Val336=) c.1044A= (p.Val348=) c.786A= (p.Val262=) c.945A= (p.Val315=) | |
15 | g.38351337A>C | CA490012413 | SPRED1 | c.1008A>C (p.Val336=) c.1044A>C (p.Val348=) c.786A>C (p.Val262=) c.945A>C (p.Val315=) | |
15 | g.38351337A>G | CA490012414 | SPRED1 | c.1008A>G (p.Val336=) c.1044A>G (p.Val348=) c.786A>G (p.Val262=) c.945A>G (p.Val315=) | ClinVar dbSNP gnomAD v4 |
15 | g.38351337A>T | CA490012415 | SPRED1 | c.1008A>T (p.Val336=) c.1044A>T (p.Val348=) c.786A>T (p.Val262=) c.945A>T (p.Val315=) | |
15 | g.38351338T>A | CA391933755 | SPRED1 | c.1009T>A (p.Tyr337Asn) c.1045T>A (p.Tyr349Asn) c.787T>A (p.Tyr263Asn) c.946T>A (p.Tyr316Asn) | gnomAD v4 |
15 | g.38351338T>C | CA391933758 | SPRED1 | c.1009T>C (p.Tyr337His) c.1045T>C (p.Tyr349His) c.787T>C (p.Tyr263His) c.946T>C (p.Tyr316His) | |
15 | g.38351338T>G | CA391933757 | SPRED1 | c.1009T>G (p.Tyr337Asp) c.1045T>G (p.Tyr349Asp) c.787T>G (p.Tyr263Asp) c.946T>G (p.Tyr316Asp) | |
15 | g.38351339A>C | CA391933761 | SPRED1 | c.1010A>C (p.Tyr337Ser) c.1046A>C (p.Tyr349Ser) c.788A>C (p.Tyr263Ser) c.947A>C (p.Tyr316Ser) | |
15 | g.38351339A>G | CA391933764 | SPRED1 | c.1010A>G (p.Tyr337Cys) c.1046A>G (p.Tyr349Cys) c.788A>G (p.Tyr263Cys) c.947A>G (p.Tyr316Cys) | |
15 | g.38351339A>T | CA391933762 | SPRED1 | c.1010A>T (p.Tyr337Phe) c.1046A>T (p.Tyr349Phe) c.788A>T (p.Tyr263Phe) c.947A>T (p.Tyr316Phe) | |
15 | g.38351339_38351340insGGGGGGGGGGGG | CA2803806069 | SPRED1 | c.1010_1011insGGGGGGGGGGGG (p.Tyr337Ter) c.1046_1047insGGGGGGGGGGGG (p.Tyr349Ter) c.788_789insGGGGGGGGGGGG (p.Tyr263Ter) c.947_948insGGGGGGGGGGGG (p.Tyr316Ter) | |
15 | g.38351340C>A | CA391933765 | SPRED1 | c.1011C>A (p.Tyr337Ter) c.1047C>A (p.Tyr349Ter) c.789C>A (p.Tyr263Ter) c.948C>A (p.Tyr316Ter) | ClinVar dbSNP |
15 | g.38351340C>G | CA391933767 | SPRED1 | c.1011C>G (p.Tyr337Ter) c.1047C>G (p.Tyr349Ter) c.789C>G (p.Tyr263Ter) c.948C>G (p.Tyr316Ter) | |
15 | g.38351340C>T | CA490012420 | SPRED1 | c.1011C>T (p.Tyr337=) c.1047C>T (p.Tyr349=) c.789C>T (p.Tyr263=) c.948C>T (p.Tyr316=) | ClinVar |
15 | g.38351340_38351341insCTCGC | CA2627716209 | SPRED1 | c.1011_1012insCTCGC (p.Cys338LeufsTer?) c.1047_1048insCTCGC (p.Cys350LeufsTer?) c.789_790insCTCGC (p.Cys264LeufsTer?) c.948_949insCTCGC (p.Cys317LeufsTer?) | gnomAD v4 |
15 | g.38351341T>A | CA391933769 | SPRED1 | c.1012T>A (p.Cys338Ser) c.1048T>A (p.Cys350Ser) c.790T>A (p.Cys264Ser) c.949T>A (p.Cys317Ser) | |
15 | g.38351341T>C | CA391933770 | SPRED1 | c.1012T>C (p.Cys338Arg) c.1048T>C (p.Cys350Arg) c.790T>C (p.Cys264Arg) c.949T>C (p.Cys317Arg) | |
15 | g.38351341T>G | CA391933772 | SPRED1 | c.1012T>G (p.Cys338Gly) c.1048T>G (p.Cys350Gly) c.790T>G (p.Cys264Gly) c.949T>G (p.Cys317Gly) | |
15 | g.38351342G>A | CA391933775 | SPRED1 | c.1013G>A (p.Cys338Tyr) c.1049G>A (p.Cys350Tyr) c.791G>A (p.Cys264Tyr) c.950G>A (p.Cys317Tyr) | |
15 | g.38351342G>C | CA391933776 | SPRED1 | c.1013G>C (p.Cys338Ser) c.1049G>C (p.Cys350Ser) c.791G>C (p.Cys264Ser) c.950G>C (p.Cys317Ser) | |
15 | g.38351342G>T | CA391933777 | SPRED1 | c.1013G>T (p.Cys338Phe) c.1049G>T (p.Cys350Phe) c.791G>T (p.Cys264Phe) c.950G>T (p.Cys317Phe) | |
15 | g.38351343C>A | CA391933779 | SPRED1 | c.1014C>A (p.Cys338Ter) c.1050C>A (p.Cys350Ter) c.792C>A (p.Cys264Ter) c.951C>A (p.Cys317Ter) | |
15 | g.38351343C>G | CA391933780 | SPRED1 | c.1014C>G (p.Cys338Trp) c.1050C>G (p.Cys350Trp) c.792C>G (p.Cys264Trp) c.951C>G (p.Cys317Trp) | |
15 | g.38351343C>T | CA490012425 | SPRED1 | c.1014C>T (p.Cys338=) c.1050C>T (p.Cys350=) c.792C>T (p.Cys264=) c.951C>T (p.Cys317=) | |
15 | g.38351344C>A | CA391933782 | SPRED1 | c.1015C>A (p.Gln339Lys) c.1051C>A (p.Gln351Lys) c.793C>A (p.Gln265Lys) c.952C>A (p.Gln318Lys) | |
15 | g.38351344C= | CA2170812679 | SPRED1 | c.1015C= (p.Gln339=) c.1051C= (p.Gln351=) c.793C= (p.Gln265=) c.952C= (p.Gln318=) | |
15 | g.38351344C>G | CA391933784 | SPRED1 | c.1015C>G (p.Gln339Glu) c.1051C>G (p.Gln351Glu) c.793C>G (p.Gln265Glu) c.952C>G (p.Gln318Glu) | |
15 | g.38351344C>T | CA391933783 | SPRED1 | c.1015C>T (p.Gln339Ter) c.1051C>T (p.Gln351Ter) c.793C>T (p.Gln265Ter) c.952C>T (p.Gln318Ter) | ClinVar dbSNP |
15 | g.38351344_38351346del | CA2627716210 | SPRED1 | c.1015_1017del (p.Gln339del) c.1051_1053del (p.Gln351del) c.793_795del (p.Gln265del) c.952_954del (p.Gln318del) | gnomAD v4 |
15 | g.38351345A>C | CA391933786 | SPRED1 | c.1016A>C (p.Gln339Pro) c.1052A>C (p.Gln351Pro) c.794A>C (p.Gln265Pro) c.953A>C (p.Gln318Pro) | |
15 | g.38351345A>G | CA391933788 | SPRED1 | c.1016A>G (p.Gln339Arg) c.1052A>G (p.Gln351Arg) c.794A>G (p.Gln265Arg) c.953A>G (p.Gln318Arg) | |
15 | g.38351345A>T | CA391933791 | SPRED1 | c.1016A>T (p.Gln339Leu) c.1052A>T (p.Gln351Leu) c.794A>T (p.Gln265Leu) c.953A>T (p.Gln318Leu) | |
15 | g.38351346G>A | CA490012432 | SPRED1 | c.1017G>A (p.Gln339=) c.1053G>A (p.Gln351=) c.795G>A (p.Gln265=) c.954G>A (p.Gln318=) | |
15 | g.38351346G>C | CA391933793 | SPRED1 | c.1017G>C (p.Gln339His) c.1053G>C (p.Gln351His) c.795G>C (p.Gln265His) c.954G>C (p.Gln318His) | |
15 | g.38351346G>T | CA391933795 | SPRED1 | c.1017G>T (p.Gln339His) c.1053G>T (p.Gln351His) c.795G>T (p.Gln265His) c.954G>T (p.Gln318His) |