| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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.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) | |
| 15 | g.38351347G>A | CA391933797 | SPRED1 | c.1018G>A (p.Glu340Lys) c.1054G>A (p.Glu352Lys) c.796G>A (p.Glu266Lys) c.955G>A (p.Glu319Lys) | |
| 15 | g.38351347G>C | CA391933799 | SPRED1 | c.1018G>C (p.Glu340Gln) c.1054G>C (p.Glu352Gln) c.796G>C (p.Glu266Gln) c.955G>C (p.Glu319Gln) | |
| 15 | g.38351347G>T | CA391933798 | SPRED1 | c.1018G>T (p.Glu340Ter) c.1054G>T (p.Glu352Ter) c.796G>T (p.Glu266Ter) c.955G>T (p.Glu319Ter) | |
| 15 | g.38351348A>C | CA391933801 | SPRED1 | c.1019A>C (p.Glu340Ala) c.1055A>C (p.Glu352Ala) c.797A>C (p.Glu266Ala) c.956A>C (p.Glu319Ala) | |
| 15 | g.38351348A>G | CA391933803 | SPRED1 | c.1019A>G (p.Glu340Gly) c.1055A>G (p.Glu352Gly) c.797A>G (p.Glu266Gly) c.956A>G (p.Glu319Gly) | |
| 15 | g.38351348A>T | CA391933805 | SPRED1 | c.1019A>T (p.Glu340Val) c.1055A>T (p.Glu352Val) c.797A>T (p.Glu266Val) c.956A>T (p.Glu319Val) | |
| 15 | g.38351349A>C | CA391933806 | SPRED1 | c.1020A>C (p.Glu340Asp) c.1056A>C (p.Glu352Asp) c.798A>C (p.Glu266Asp) c.957A>C (p.Glu319Asp) | |
| 15 | g.38351349A>G | CA490012440 | SPRED1 | c.1020A>G (p.Glu340=) c.1056A>G (p.Glu352=) c.798A>G (p.Glu266=) c.957A>G (p.Glu319=) | |
| 15 | g.38351349A>T | CA391933808 | SPRED1 | c.1020A>T (p.Glu340Asp) c.1056A>T (p.Glu352Asp) c.798A>T (p.Glu266Asp) c.957A>T (p.Glu319Asp) | |
| 15 | g.38351350A>C | CA490012441 | SPRED1 | c.1021A>C (p.Arg341=) c.1057A>C (p.Arg353=) c.799A>C (p.Arg267=) c.958A>C (p.Arg320=) | |
| 15 | g.38351350A>G | CA391933809 | SPRED1 | c.1021A>G (p.Arg341Gly) c.1057A>G (p.Arg353Gly) c.799A>G (p.Arg267Gly) c.958A>G (p.Arg320Gly) | gnomAD v4 |
| 15 | g.38351350A>T | CA391933811 | SPRED1 | c.1021A>T (p.Arg341Trp) c.1057A>T (p.Arg353Trp) c.799A>T (p.Arg267Trp) c.958A>T (p.Arg320Trp) | |
| 15 | g.38351351G>A | CA391933812 | SPRED1 | c.1022G>A (p.Arg341Lys) c.1058G>A (p.Arg353Lys) c.800G>A (p.Arg267Lys) c.959G>A (p.Arg320Lys) | |
| 15 | g.38351351G>C | CA391933814 | SPRED1 | c.1022G>C (p.Arg341Thr) c.1058G>C (p.Arg353Thr) c.800G>C (p.Arg267Thr) c.959G>C (p.Arg320Thr) | |
| 15 | g.38351351G>T | CA391933815 | SPRED1 | c.1022G>T (p.Arg341Met) c.1058G>T (p.Arg353Met) c.800G>T (p.Arg267Met) c.959G>T (p.Arg320Met) | |
| 15 | g.38351352del | CA2627716211 | SPRED1 | c.1023del (p.Arg341SerfsTer?) c.1059del (p.Arg353SerfsTer?) c.801del (p.Arg267SerfsTer?) c.960del (p.Arg320SerfsTer?) | gnomAD v4 |
| 15 | g.38351352G>A | CA490012443 | SPRED1 | c.1023G>A (p.Arg341=) c.1059G>A (p.Arg353=) c.801G>A (p.Arg267=) c.960G>A (p.Arg320=) | dbSNP |
| 15 | g.38351352G>C | CA391933816 | SPRED1 | c.1023G>C (p.Arg341Ser) c.1059G>C (p.Arg353Ser) c.801G>C (p.Arg267Ser) c.960G>C (p.Arg320Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351352G= | CA2170812680 | SPRED1 | c.1023G= (p.Arg341=) c.1059G= (p.Arg353=) c.801G= (p.Arg267=) c.960G= (p.Arg320=) | |
| 15 | g.38351352G>T | CA391933817 | SPRED1 | c.1023G>T (p.Arg341Ser) c.1059G>T (p.Arg353Ser) c.801G>T (p.Arg267Ser) c.960G>T (p.Arg320Ser) | |
| 15 | g.38351353T>A | CA391933818 | SPRED1 | c.1024T>A (p.Phe342Ile) c.1060T>A (p.Phe354Ile) c.802T>A (p.Phe268Ile) c.961T>A (p.Phe321Ile) | |
| 15 | g.38351353T>C | CA269293456 | SPRED1 | c.1024T>C (p.Phe342Leu) c.1060T>C (p.Phe354Leu) c.802T>C (p.Phe268Leu) c.961T>C (p.Phe321Leu) | dbSNP |
| 15 | g.38351353T>G | CA391933820 | SPRED1 | c.1024T>G (p.Phe342Val) c.1060T>G (p.Phe354Val) c.802T>G (p.Phe268Val) c.961T>G (p.Phe321Val) | |
| 15 | g.38351353T= | CA2170812681 | SPRED1 | c.1024T= (p.Phe342=) c.1060T= (p.Phe354=) c.802T= (p.Phe268=) c.961T= (p.Phe321=) | |
| 15 | g.38351354T>A | CA391933821 | SPRED1 | c.1025T>A (p.Phe342Tyr) c.1061T>A (p.Phe354Tyr) c.803T>A (p.Phe268Tyr) c.962T>A (p.Phe321Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.38351354T>C | CA391933822 | SPRED1 | c.1025T>C (p.Phe342Ser) c.1061T>C (p.Phe354Ser) c.803T>C (p.Phe268Ser) c.962T>C (p.Phe321Ser) | |
| 15 | g.38351354T>G | CA391933824 | SPRED1 | c.1025T>G (p.Phe342Cys) c.1061T>G (p.Phe354Cys) c.803T>G (p.Phe268Cys) c.962T>G (p.Phe321Cys) | |
| 15 | g.38351354T= | CA2170812682 | SPRED1 | c.1025T= (p.Phe342=) c.1061T= (p.Phe354=) c.803T= (p.Phe268=) c.962T= (p.Phe321=) | |
| 15 | g.38351355T>A | CA391933827 | SPRED1 | c.1026T>A (p.Phe342Leu) c.1062T>A (p.Phe354Leu) c.804T>A (p.Phe268Leu) c.963T>A (p.Phe321Leu) | |
| 15 | g.38351355T>C | CA490012448 | SPRED1 | c.1026T>C (p.Phe342=) c.1062T>C (p.Phe354=) c.804T>C (p.Phe268=) c.963T>C (p.Phe321=) | gnomAD v4 |
| 15 | g.38351355T>G | CA391933829 | SPRED1 | c.1026T>G (p.Phe342Leu) c.1062T>G (p.Phe354Leu) c.804T>G (p.Phe268Leu) c.963T>G (p.Phe321Leu) | |
| 15 | g.38351356A>C | CA391933831 | SPRED1 | c.1027A>C (p.Asn343His) c.1063A>C (p.Asn355His) c.805A>C (p.Asn269His) c.964A>C (p.Asn322His) | |
| 15 | g.38351356A>G | CA391933833 | SPRED1 | c.1027A>G (p.Asn343Asp) c.1063A>G (p.Asn355Asp) c.805A>G (p.Asn269Asp) c.964A>G (p.Asn322Asp) | ClinVar gnomAD v4 |
| 15 | g.38351356A>T | CA391933834 | SPRED1 | c.1027A>T (p.Asn343Tyr) c.1063A>T (p.Asn355Tyr) c.805A>T (p.Asn269Tyr) c.964A>T (p.Asn322Tyr) | |
| 15 | g.38351357A>C | CA391933836 | SPRED1 | c.1028A>C (p.Asn343Thr) c.1064A>C (p.Asn355Thr) c.806A>C (p.Asn269Thr) c.965A>C (p.Asn322Thr) | |
| 15 | g.38351357A>G | CA391933837 | SPRED1 | c.1028A>G (p.Asn343Ser) c.1064A>G (p.Asn355Ser) c.806A>G (p.Asn269Ser) c.965A>G (p.Asn322Ser) | COSMIC |
| 15 | g.38351357A>T | CA391933838 | SPRED1 | c.1028A>T (p.Asn343Ile) c.1064A>T (p.Asn355Ile) c.806A>T (p.Asn269Ile) c.965A>T (p.Asn322Ile) | |
| 15 | g.38351358T>A | CA391933840 | SPRED1 | c.1029T>A (p.Asn343Lys) c.1065T>A (p.Asn355Lys) c.807T>A (p.Asn269Lys) c.966T>A (p.Asn322Lys) | |
| 15 | g.38351358T>C | CA490012451 | SPRED1 | c.1029T>C (p.Asn343=) c.1065T>C (p.Asn355=) c.807T>C (p.Asn269=) c.966T>C (p.Asn322=) | |
| 15 | g.38351358T>G | CA391933841 | SPRED1 | c.1029T>G (p.Asn343Lys) c.1065T>G (p.Asn355Lys) c.807T>G (p.Asn269Lys) c.966T>G (p.Asn322Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.38351358T= | CA2170812683 | SPRED1 | c.1029T= (p.Asn343=) c.1065T= (p.Asn355=) c.807T= (p.Asn269=) c.966T= (p.Asn322=) | |
| 15 | g.38351359C>A | CA391933845 | SPRED1 | c.1030C>A (p.His344Asn) c.1066C>A (p.His356Asn) c.808C>A (p.His270Asn) c.967C>A (p.His323Asn) | gnomAD v4 |
| 15 | g.38351359C= | CA2170812684 | SPRED1 | c.1030C= (p.His344=) c.1066C= (p.His356=) c.808C= (p.His270=) c.967C= (p.His323=) | |
| 15 | g.38351359C>G | CA391933842 | SPRED1 | c.1030C>G (p.His344Asp) c.1066C>G (p.His356Asp) c.808C>G (p.His270Asp) c.967C>G (p.His323Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351359C>T | CA391933844 | SPRED1 | c.1030C>T (p.His344Tyr) c.1066C>T (p.His356Tyr) c.808C>T (p.His270Tyr) c.967C>T (p.His323Tyr) | |
| 15 | g.38351360A= | CA2170812685 | SPRED1 | c.1031A= (p.His344=) c.1067A= (p.His356=) c.809A= (p.His270=) c.968A= (p.His323=) | |
| 15 | g.38351360A>C | CA391933847 | SPRED1 | c.1031A>C (p.His344Pro) c.1067A>C (p.His356Pro) c.809A>C (p.His270Pro) c.968A>C (p.His323Pro) | |
| 15 | g.38351360A>G | CA7470220 | SPRED1 | c.1031A>G (p.His344Arg) c.1067A>G (p.His356Arg) c.809A>G (p.His270Arg) c.968A>G (p.His323Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351360A>T | CA391933850 | SPRED1 | c.1031A>T (p.His344Leu) c.1067A>T (p.His356Leu) c.809A>T (p.His270Leu) c.968A>T (p.His323Leu) | |
| 15 | g.38351361T>A | CA391933851 | SPRED1 | c.1032T>A (p.His344Gln) c.1068T>A (p.His356Gln) c.810T>A (p.His270Gln) c.969T>A (p.His323Gln) | dbSNP |
| 15 | g.38351361T>C | CA490012455 | SPRED1 | c.1032T>C (p.His344=) c.1068T>C (p.His356=) c.810T>C (p.His270=) c.969T>C (p.His323=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351361T>G | CA391933852 | SPRED1 | c.1032T>G (p.His344Gln) c.1068T>G (p.His356Gln) c.810T>G (p.His270Gln) c.969T>G (p.His323Gln) | |
| 15 | g.38351361T= | CA2170812686 | SPRED1 | c.1032T= (p.His344=) c.1068T= (p.His356=) c.810T= (p.His270=) c.969T= (p.His323=) | |
| 15 | g.38351362G>A | CA391933854 | SPRED1 | c.1033G>A (p.Glu345Lys) c.1069G>A (p.Glu357Lys) c.811G>A (p.Glu271Lys) c.970G>A (p.Glu324Lys) | |
| 15 | g.38351362G>C | CA391933856 | SPRED1 | c.1033G>C (p.Glu345Gln) c.1069G>C (p.Glu357Gln) c.811G>C (p.Glu271Gln) c.970G>C (p.Glu324Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.38351362G= | CA2170812687 | SPRED1 | c.1033G= (p.Glu345=) c.1069G= (p.Glu357=) c.811G= (p.Glu271=) c.970G= (p.Glu324=) | |
| 15 | g.38351362G>T | CA391933858 | SPRED1 | c.1033G>T (p.Glu345Ter) c.1069G>T (p.Glu357Ter) c.811G>T (p.Glu271Ter) c.970G>T (p.Glu324Ter) | |
| 15 | g.38351363A>C | CA391933859 | SPRED1 | c.1034A>C (p.Glu345Ala) c.1070A>C (p.Glu357Ala) c.812A>C (p.Glu271Ala) c.971A>C (p.Glu324Ala) | |
| 15 | g.38351363A>G | CA391933861 | SPRED1 | c.1034A>G (p.Glu345Gly) c.1070A>G (p.Glu357Gly) c.812A>G (p.Glu271Gly) c.971A>G (p.Glu324Gly) | |
| 15 | g.38351363A>T | CA391933863 | SPRED1 | c.1034A>T (p.Glu345Val) c.1070A>T (p.Glu357Val) c.812A>T (p.Glu271Val) c.971A>T (p.Glu324Val) | gnomAD v4 |
| 15 | g.38351364A= | CA2170812688 | SPRED1 | c.1035A= (p.Glu345=) c.1071A= (p.Glu357=) c.813A= (p.Glu271=) c.972A= (p.Glu324=) | |
| 15 | g.38351364A>C | CA391933866 | SPRED1 | c.1035A>C (p.Glu345Asp) c.1071A>C (p.Glu357Asp) c.813A>C (p.Glu271Asp) c.972A>C (p.Glu324Asp) | |
| 15 | g.38351364A>G | CA7470221 | SPRED1 | c.1035A>G (p.Glu345=) c.1071A>G (p.Glu357=) c.813A>G (p.Glu271=) c.972A>G (p.Glu324=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.38351364A>T | CA391933868 | SPRED1 | c.1035A>T (p.Glu345Asp) c.1071A>T (p.Glu357Asp) c.813A>T (p.Glu271Asp) c.972A>T (p.Glu324Asp) | |
| 15 | g.38351364_38351376del | CA2740097249 | SPRED1 | c.1035_1047del (p.Gly350MetfsTer?) c.1071_1083del (p.Gly362MetfsTer?) c.813_825del (p.Gly276MetfsTer?) c.972_984del (p.Gly329MetfsTer?) | ClinVar |
| 15 | g.38351365G>A | CA391933870 | SPRED1 | c.1036G>A (p.Glu346Lys) c.1072G>A (p.Glu358Lys) c.814G>A (p.Glu272Lys) c.973G>A (p.Glu325Lys) | |
| 15 | g.38351365G>C | CA391933873 | SPRED1 | c.1036G>C (p.Glu346Gln) c.1072G>C (p.Glu358Gln) c.814G>C (p.Glu272Gln) c.973G>C (p.Glu325Gln) | gnomAD v4 |
| 15 | g.38351365G>T | CA391933872 | SPRED1 | c.1036G>T (p.Glu346Ter) c.1072G>T (p.Glu358Ter) c.814G>T (p.Glu272Ter) c.973G>T (p.Glu325Ter) | |
| 15 | g.38351372_38351373insCAGGGGAAAATGT | CA2697554335 | SPRED1 | c.1043_1044insCAGGGGAAAATGT (p.Gln353Ter) c.1079_1080insCAGGGGAAAATGT (p.Gln365Ter) c.821_822insCAGGGGAAAATGT (p.Gln279Ter) c.980_981insCAGGGGAAAATGT (p.Gln332Ter) | ClinVar |
| 15 | g.38351373_38351385del | CA617561334 | SPRED1 | c.1044_1056del (p.Gly350MetfsTer?) c.1080_1092del (p.Gly362MetfsTer?) c.822_834del (p.Gly276MetfsTer?) c.981_993del (p.Gly329MetfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351366A= | CA2170812689 | SPRED1 | c.1037A= (p.Glu346=) c.1073A= (p.Glu358=) c.815A= (p.Glu272=) c.974A= (p.Glu325=) | |
| 15 | g.38351366A>C | CA391933875 | SPRED1 | c.1037A>C (p.Glu346Ala) c.1073A>C (p.Glu358Ala) c.815A>C (p.Glu272Ala) c.974A>C (p.Glu325Ala) | |
| 15 | g.38351366A>G | CA7470222 | SPRED1 | c.1037A>G (p.Glu346Gly) c.1073A>G (p.Glu358Gly) c.815A>G (p.Glu272Gly) c.974A>G (p.Glu325Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.38351366A>T | CA391933877 | SPRED1 | c.1037A>T (p.Glu346Val) c.1073A>T (p.Glu358Val) c.815A>T (p.Glu272Val) c.974A>T (p.Glu325Val) | |
| 15 | g.38351367A>C | CA391933879 | SPRED1 | c.1038A>C (p.Glu346Asp) c.1074A>C (p.Glu358Asp) c.816A>C (p.Glu272Asp) c.975A>C (p.Glu325Asp) | |
| 15 | g.38351367A>G | CA490012459 | SPRED1 | c.1038A>G (p.Glu346=) c.1074A>G (p.Glu358=) c.816A>G (p.Glu272=) c.975A>G (p.Glu325=) | |
| 15 | g.38351367A>T | CA391933881 | SPRED1 | c.1038A>T (p.Glu346Asp) c.1074A>T (p.Glu358Asp) c.816A>T (p.Glu272Asp) c.975A>T (p.Glu325Asp) | |
| 15 | g.38351368A>C | CA391933882 | SPRED1 | c.1039A>C (p.Asn347His) c.1075A>C (p.Asn359His) c.817A>C (p.Asn273His) c.976A>C (p.Asn326His) | |
| 15 | g.38351368A>G | CA391933884 | SPRED1 | c.1039A>G (p.Asn347Asp) c.1075A>G (p.Asn359Asp) c.817A>G (p.Asn273Asp) c.976A>G (p.Asn326Asp) | |
| 15 | g.38351368A>T | CA391933885 | SPRED1 | c.1039A>T (p.Asn347Tyr) c.1075A>T (p.Asn359Tyr) c.817A>T (p.Asn273Tyr) c.976A>T (p.Asn326Tyr) | |
| 15 | g.38351369A>C | CA391933887 | SPRED1 | c.1040A>C (p.Asn347Thr) c.1076A>C (p.Asn359Thr) c.818A>C (p.Asn273Thr) c.977A>C (p.Asn326Thr) | |
| 15 | g.38351369A>G | CA391933889 | SPRED1 | c.1040A>G (p.Asn347Ser) c.1076A>G (p.Asn359Ser) c.818A>G (p.Asn273Ser) c.977A>G (p.Asn326Ser) | |
| 15 | g.38351369A>T | CA391933891 | SPRED1 | c.1040A>T (p.Asn347Ile) c.1076A>T (p.Asn359Ile) c.818A>T (p.Asn273Ile) c.977A>T (p.Asn326Ile) | |
| 15 | g.38351369_38351370insAAACCAAACACACCCAACACA | CA2803806070 | SPRED1 | c.1040_1041insAAACCAAACACACCCAACACA (p.Asn347delinsLysAsnGlnThrHisProThrHis) c.1076_1077insAAACCAAACACACCCAACACA (p.Asn359delinsLysAsnGlnThrHisProThrHis) c.818_819insAAACCAAACACACCCAACACA (p.Asn273delinsLysAsnGlnThrHisProThrHis) c.977_978insAAACCAAACACACCCAACACA (p.Asn326delinsLysAsnGlnThrHisProThrHis) | |
| 15 | g.38351370T>A | CA391933894 | SPRED1 | c.1041T>A (p.Asn347Lys) c.1077T>A (p.Asn359Lys) c.819T>A (p.Asn273Lys) c.978T>A (p.Asn326Lys) | |
| 15 | g.38351370T>C | CA490012046 | SPRED1 | c.1041T>C (p.Asn347=) c.1077T>C (p.Asn359=) c.819T>C (p.Asn273=) c.978T>C (p.Asn326=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.38351370T>G | CA391933893 | SPRED1 | c.1041T>G (p.Asn347Lys) c.1077T>G (p.Asn359Lys) c.819T>G (p.Asn273Lys) c.978T>G (p.Asn326Lys) | |
| 15 | g.38351370T= | CA2170812690 | SPRED1 | c.1041T= (p.Asn347=) c.1077T= (p.Asn359=) c.819T= (p.Asn273=) c.978T= (p.Asn326=) | |
| 15 | g.38351371G>A | CA269293457 | SPRED1 | c.1042G>A (p.Val348Ile) c.1078G>A (p.Val360Ile) c.820G>A (p.Val274Ile) c.979G>A (p.Val327Ile) | dbSNP gnomAD v4 |
| 15 | g.38351371G>C | CA391933895 | SPRED1 | c.1042G>C (p.Val348Leu) c.1078G>C (p.Val360Leu) c.820G>C (p.Val274Leu) c.979G>C (p.Val327Leu) | |
| 15 | g.38351371G= | CA2170812691 | SPRED1 | c.1042G= (p.Val348=) c.1078G= (p.Val360=) c.820G= (p.Val274=) c.979G= (p.Val327=) | |
| 15 | g.38351371G>T | CA391933896 | SPRED1 | c.1042G>T (p.Val348Phe) c.1078G>T (p.Val360Phe) c.820G>T (p.Val274Phe) c.979G>T (p.Val327Phe) | |
| 15 | g.38351372T>A | CA391933898 | SPRED1 | c.1043T>A (p.Val348Asp) c.1079T>A (p.Val360Asp) c.821T>A (p.Val274Asp) c.980T>A (p.Val327Asp) | |
| 15 | g.38351372T>C | CA391933900 | SPRED1 | c.1043T>C (p.Val348Ala) c.1079T>C (p.Val360Ala) c.821T>C (p.Val274Ala) c.980T>C (p.Val327Ala) | |
| 15 | g.38351372T>G | CA391933901 | SPRED1 | c.1043T>G (p.Val348Gly) c.1079T>G (p.Val360Gly) c.821T>G (p.Val274Gly) c.980T>G (p.Val327Gly) | |
| 15 | g.38351372_38351374delinsTTA | CA2170812692 | SPRED1 | c.1043_1045delinsTTA (p.Val348=) c.1079_1081delinsTTA (p.Val360=) c.821_823delinsTTA (p.Val274=) c.980_982delinsTTA (p.Val327=) | |
| 15 | g.38351372_38351375delinsTTAG | CA2170812693 | SPRED1 | c.1043_1046delinsTTAG (p.Val348=) c.1079_1082delinsTTAG (p.Val360=) c.821_824delinsTTAG (p.Val274=) c.980_983delinsTTAG (p.Val327=) | |
| 15 | g.38351373T>A | CA490012053 | SPRED1 | c.1044T>A (p.Val348=) c.1080T>A (p.Val360=) c.822T>A (p.Val274=) c.981T>A (p.Val327=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.38351373T>C | CA142266 | SPRED1 | c.1044T>C (p.Val348=) c.1080T>C (p.Val360=) c.822T>C (p.Val274=) c.981T>C (p.Val327=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351373T>G | CA7470223 | SPRED1 | c.1044T>G (p.Val348=) c.1080T>G (p.Val360=) c.822T>G (p.Val274=) c.981T>G (p.Val327=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351373T= | CA2170812694 | SPRED1 | c.1044T= (p.Val348=) c.1080T= (p.Val360=) c.822T= (p.Val274=) c.981T= (p.Val327=) | |
| 15 | g.38351373_38351374del | CA712576530 | SPRED1 | c.1044_1045del (p.Arg349GlyfsTer11) c.1080_1081del (p.Arg361GlyfsTer11) c.822_823del (p.Arg275GlyfsTer11) c.981_982del (p.Arg328GlyfsTer11) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.38351373_38351374delinsCC | CA2740097250 | SPRED1 | c.1044_1045delinsCC (p.Val348=) c.1080_1081delinsCC (p.Val360=) c.822_823delinsCC (p.Val274=) c.981_982delinsCC (p.Val327=) | ClinVar |
| 15 | g.38351373_38351374delinsCT | CA2697554336 | SPRED1 | c.1044_1045delinsCT (p.Arg349Trp) c.1080_1081delinsCT (p.Arg361Trp) c.822_823delinsCT (p.Arg275Trp) c.981_982delinsCT (p.Arg328Trp) | ClinVar |
| 15 | g.38351373_38351375delinsC | CA891843555 | SPRED1 | c.1044_1046delinsC (p.Arg349GlyfsTer11) c.1080_1082delinsC (p.Arg361GlyfsTer11) c.822_824delinsC (p.Arg275GlyfsTer11) c.981_983delinsC (p.Arg328GlyfsTer11) | ClinVar dbSNP |
| 15 | g.38351373_38351375delinsTAG | CA2170812696 | SPRED1 | c.1044_1046delinsTAG (p.Val348=) c.1080_1082delinsTAG (p.Val360=) c.822_824delinsTAG (p.Val274=) c.981_983delinsTAG (p.Val327=) | |
| 15 | g.38351373_38351386delinsTAGGGGAAAATGTC | CA2170812695 | SPRED1 | c.1044_1057delinsTAGGGGAAAATGTC (p.Val348=) c.1080_1093delinsTAGGGGAAAATGTC (p.Val360=) c.822_835delinsTAGGGGAAAATGTC (p.Val274=) c.981_994delinsTAGGGGAAAATGTC (p.Val327=) | |
| 15 | g.38351374A= | CA2170812697 | SPRED1 | c.1045A= (p.Arg349=) c.1081A= (p.Arg361=) c.823A= (p.Arg275=) c.982A= (p.Arg328=) | |
| 15 | g.38351374A>C | CA269293458 | SPRED1 | c.1045A>C (p.Arg349=) c.1081A>C (p.Arg361=) c.823A>C (p.Arg275=) c.982A>C (p.Arg328=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.38351374A>G | CA391933903 | SPRED1 | c.1045A>G (p.Arg349Gly) c.1081A>G (p.Arg361Gly) c.823A>G (p.Arg275Gly) c.982A>G (p.Arg328Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351374A>T | CA7470224 | SPRED1 | c.1045A>T (p.Arg349Trp) c.1081A>T (p.Arg361Trp) c.823A>T (p.Arg275Trp) c.982A>T (p.Arg328Trp) | ClinVar dbSNP ExAC gnomAD v2 |
| 15 | g.38351374_38351375del | CA658761250 | SPRED1 | c.1045_1046del (p.Arg349GlyfsTer11) c.1081_1082del (p.Arg361GlyfsTer11) c.823_824del (p.Arg275GlyfsTer11) c.982_983del (p.Arg328GlyfsTer11) | ClinVar dbSNP |
| 15 | g.38351377_38351389del | CA16042867 | SPRED1 | c.1048_1060del (p.Gly350MetfsTer?) c.1084_1096del (p.Gly362MetfsTer?) c.826_838del (p.Gly276MetfsTer?) c.985_997del (p.Gly329MetfsTer?) | ClinVar dbSNP |
| 15 | g.38351375G>A | CA391933907 | SPRED1 | c.1046G>A (p.Arg349Lys) c.1082G>A (p.Arg361Lys) c.824G>A (p.Arg275Lys) c.983G>A (p.Arg328Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.38351375G>C | CA391933909 | SPRED1 | c.1046G>C (p.Arg349Thr) c.1082G>C (p.Arg361Thr) c.824G>C (p.Arg275Thr) c.983G>C (p.Arg328Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.38351375G= | CA2170812698 | SPRED1 | c.1046G= (p.Arg349=) c.1082G= (p.Arg361=) c.824G= (p.Arg275=) c.983G= (p.Arg328=) | |
| 15 | g.38351375G>T | CA391933906 | SPRED1 | c.1046G>T (p.Arg349Met) c.1082G>T (p.Arg361Met) c.824G>T (p.Arg275Met) c.983G>T (p.Arg328Met) | |
| 15 | g.38351377_38351378del | CA658761251 | SPRED1 | c.1048_1049del (p.Gly350LysfsTer10) c.1084_1085del (p.Gly362LysfsTer10) c.826_827del (p.Gly276LysfsTer10) c.985_986del (p.Gly329LysfsTer10) | |
| 15 | g.38351376G>A | CA490012061 | SPRED1 | c.1047G>A (p.Arg349=) c.1083G>A (p.Arg361=) c.825G>A (p.Arg275=) c.984G>A (p.Arg328=) | |
| 15 | g.38351376G>C | CA391933910 | SPRED1 | c.1047G>C (p.Arg349Ser) c.1083G>C (p.Arg361Ser) c.825G>C (p.Arg275Ser) c.984G>C (p.Arg328Ser) | |
| 15 | g.38351376G= | CA2170812699 | SPRED1 | c.1047G= (p.Arg349=) c.1083G= (p.Arg361=) c.825G= (p.Arg275=) c.984G= (p.Arg328=) | |
| 15 | g.38351376G>T | CA391933912 | SPRED1 | c.1047G>T (p.Arg349Ser) c.1083G>T (p.Arg361Ser) c.825G>T (p.Arg275Ser) c.984G>T (p.Arg328Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.38351377G>A | CA391933914 | SPRED1 | c.1048G>A (p.Gly350Arg) c.1084G>A (p.Gly362Arg) c.826G>A (p.Gly276Arg) c.985G>A (p.Gly329Arg) | |
| 15 | g.38351377G>C | CA391933915 | SPRED1 | c.1048G>C (p.Gly350Arg) c.1084G>C (p.Gly362Arg) c.826G>C (p.Gly276Arg) c.985G>C (p.Gly329Arg) | |
| 15 | g.38351377G>T | CA391933917 | SPRED1 | c.1048G>T (p.Gly350Ter) c.1084G>T (p.Gly362Ter) c.826G>T (p.Gly276Ter) c.985G>T (p.Gly329Ter) | |
| 15 | g.38351378G>A | CA391933918 | SPRED1 | c.1049G>A (p.Gly350Glu) c.1085G>A (p.Gly362Glu) c.827G>A (p.Gly276Glu) c.986G>A (p.Gly329Glu) | |
| 15 | g.38351378G>C | CA391933919 | SPRED1 | c.1049G>C (p.Gly350Ala) c.1085G>C (p.Gly362Ala) c.827G>C (p.Gly276Ala) c.986G>C (p.Gly329Ala) | |
| 15 | g.38351378G>T | CA391933921 | SPRED1 | c.1049G>T (p.Gly350Val) c.1085G>T (p.Gly362Val) c.827G>T (p.Gly276Val) c.986G>T (p.Gly329Val) | |
| 15 | g.38351378_38351379delinsGA | CA2170812700 | SPRED1 | c.1049_1050delinsGA (p.Gly350=) c.1085_1086delinsGA (p.Gly362=) c.827_828delinsGA (p.Gly276=) c.986_987delinsGA (p.Gly329=) | |
| 15 | g.38351379A>C | CA490012067 | SPRED1 | c.1050A>C (p.Gly350=) c.1086A>C (p.Gly362=) c.828A>C (p.Gly276=) c.987A>C (p.Gly329=) | |
| 15 | g.38351379A>G | CA490012069 | SPRED1 | c.1050A>G (p.Gly350=) c.1086A>G (p.Gly362=) c.828A>G (p.Gly276=) c.987A>G (p.Gly329=) | |
| 15 | g.38351379A>T | CA490012070 | SPRED1 | c.1050A>T (p.Gly350=) c.1086A>T (p.Gly362=) c.828A>T (p.Gly276=) c.987A>T (p.Gly329=) | |
| 15 | g.38351382del | CA891843556 | SPRED1 | c.1053del (p.Lys351AsnfsTer?) c.1089del (p.Lys363AsnfsTer?) c.831del (p.Lys277AsnfsTer?) c.990del (p.Lys330AsnfsTer?) | ClinVar dbSNP |
| 15 | g.38351380_38351382del | CA2627716212 | SPRED1 | c.1051_1053del (p.Lys351del) c.1087_1089del (p.Lys363del) c.829_831del (p.Lys277del) c.988_990del (p.Lys330del) | gnomAD v4 |
| 15 | g.38351380A>C | CA391933923 | SPRED1 | c.1051A>C (p.Lys351Gln) c.1087A>C (p.Lys363Gln) c.829A>C (p.Lys277Gln) c.988A>C (p.Lys330Gln) | |
| 15 | g.38351380A>G | CA391933925 | SPRED1 | c.1051A>G (p.Lys351Glu) c.1087A>G (p.Lys363Glu) c.829A>G (p.Lys277Glu) c.988A>G (p.Lys330Glu) | |
| 15 | g.38351380A>T | CA391933926 | SPRED1 | c.1051A>T (p.Lys351Ter) c.1087A>T (p.Lys363Ter) c.829A>T (p.Lys277Ter) c.988A>T (p.Lys330Ter) | |
| 15 | g.38351381A>C | CA391933930 | SPRED1 | c.1052A>C (p.Lys351Thr) c.1088A>C (p.Lys363Thr) c.830A>C (p.Lys277Thr) c.989A>C (p.Lys330Thr) | |
| 15 | g.38351381A>G | CA391933932 | SPRED1 | c.1052A>G (p.Lys351Arg) c.1088A>G (p.Lys363Arg) c.830A>G (p.Lys277Arg) c.989A>G (p.Lys330Arg) | |
| 15 | g.38351381A>T | CA391933928 | SPRED1 | c.1052A>T (p.Lys351Ile) c.1088A>T (p.Lys363Ile) c.830A>T (p.Lys277Ile) c.989A>T (p.Lys330Ile) | |
| 15 | g.38351382A>C | CA391933933 | SPRED1 | c.1053A>C (p.Lys351Asn) c.1089A>C (p.Lys363Asn) c.831A>C (p.Lys277Asn) c.990A>C (p.Lys330Asn) | COSMIC |
| 15 | g.38351382A>G | CA490012077 | SPRED1 | c.1053A>G (p.Lys351=) c.1089A>G (p.Lys363=) c.831A>G (p.Lys277=) c.990A>G (p.Lys330=) | |
| 15 | g.38351382A>T | CA391933935 | SPRED1 | c.1053A>T (p.Lys351Asn) c.1089A>T (p.Lys363Asn) c.831A>T (p.Lys277Asn) c.990A>T (p.Lys330Asn) | |
| 15 | g.38351383T>A | CA391933937 | SPRED1 | c.1054T>A (p.Cys352Ser) c.1090T>A (p.Cys364Ser) c.832T>A (p.Cys278Ser) c.991T>A (p.Cys331Ser) | |
| 15 | g.38351383T>C | CA391933939 | SPRED1 | c.1054T>C (p.Cys352Arg) c.1090T>C (p.Cys364Arg) c.832T>C (p.Cys278Arg) c.991T>C (p.Cys331Arg) | |
| 15 | g.38351383T>G | CA391933940 | SPRED1 | c.1054T>G (p.Cys352Gly) c.1090T>G (p.Cys364Gly) c.832T>G (p.Cys278Gly) c.991T>G (p.Cys331Gly) | |
| 15 | g.38351384G>A | CA391933945 | SPRED1 | c.1055G>A (p.Cys352Tyr) c.1091G>A (p.Cys364Tyr) c.833G>A (p.Cys278Tyr) c.992G>A (p.Cys331Tyr) | |
| 15 | g.38351384G>C | CA391933943 | SPRED1 | c.1055G>C (p.Cys352Ser) c.1091G>C (p.Cys364Ser) c.833G>C (p.Cys278Ser) c.992G>C (p.Cys331Ser) | |
| 15 | g.38351384G>T | CA391933944 | SPRED1 | c.1055G>T (p.Cys352Phe) c.1091G>T (p.Cys364Phe) c.833G>T (p.Cys278Phe) c.992G>T (p.Cys331Phe) | |
| 15 | g.38351385T>A | CA391933948 | SPRED1 | c.1056T>A (p.Cys352Ter) c.1092T>A (p.Cys364Ter) c.834T>A (p.Cys278Ter) c.993T>A (p.Cys331Ter) | |
| 15 | g.38351385T>C | CA490012087 | SPRED1 | c.1056T>C (p.Cys352=) c.1092T>C (p.Cys364=) c.834T>C (p.Cys278=) c.993T>C (p.Cys331=) | |
| 15 | g.38351385T>G | CA391933950 | SPRED1 | c.1056T>G (p.Cys352Trp) c.1092T>G (p.Cys364Trp) c.834T>G (p.Cys278Trp) c.993T>G (p.Cys331Trp) | |
| 15 | g.38351386C>A | CA391933951 | SPRED1 | c.1057C>A (p.Gln353Lys) c.1093C>A (p.Gln365Lys) c.835C>A (p.Gln279Lys) c.994C>A (p.Gln332Lys) | |
| 15 | g.38351386C>G | CA391933953 | SPRED1 | c.1057C>G (p.Gln353Glu) c.1093C>G (p.Gln365Glu) c.835C>G (p.Gln279Glu) c.994C>G (p.Gln332Glu) | |
| 15 | g.38351386C>T | CA391933955 | SPRED1 | c.1057C>T (p.Gln353Ter) c.1093C>T (p.Gln365Ter) c.835C>T (p.Gln279Ter) c.994C>T (p.Gln332Ter) | COSMIC |
| 15 | g.38351387A>C | CA391933960 | SPRED1 | c.1058A>C (p.Gln353Pro) c.1094A>C (p.Gln365Pro) c.836A>C (p.Gln279Pro) c.995A>C (p.Gln332Pro) | |
| 15 | g.38351387A>G | CA391933958 | SPRED1 | c.1058A>G (p.Gln353Arg) c.1094A>G (p.Gln365Arg) c.836A>G (p.Gln279Arg) c.995A>G (p.Gln332Arg) | |
| 15 | g.38351387A>T | CA391933957 | SPRED1 | c.1058A>T (p.Gln353Leu) c.1094A>T (p.Gln365Leu) c.836A>T (p.Gln279Leu) c.995A>T (p.Gln332Leu) | |
| 15 | g.38351388G>A | CA490012099 | SPRED1 | c.1059G>A (p.Gln353=) c.1095G>A (p.Gln365=) c.837G>A (p.Gln279=) c.996G>A (p.Gln332=) | |
| 15 | g.38351388G>C | CA391933962 | SPRED1 | c.1059G>C (p.Gln353His) c.1095G>C (p.Gln365His) c.837G>C (p.Gln279His) c.996G>C (p.Gln332His) | |
| 15 | g.38351388G>T | CA391933963 | SPRED1 | c.1059G>T (p.Gln353His) c.1095G>T (p.Gln365His) c.837G>T (p.Gln279His) c.996G>T (p.Gln332His) | |
| 15 | g.38351389G>A | CA391933965 | SPRED1 | c.1060G>A (p.Asp354Asn) c.1096G>A (p.Asp366Asn) c.838G>A (p.Asp280Asn) c.997G>A (p.Asp333Asn) | |
| 15 | g.38351389G>C | CA391933966 | SPRED1 | c.1060G>C (p.Asp354His) c.1096G>C (p.Asp366His) c.838G>C (p.Asp280His) c.997G>C (p.Asp333His) | |
| 15 | g.38351389G>T | CA391933968 | SPRED1 | c.1060G>T (p.Asp354Tyr) c.1096G>T (p.Asp366Tyr) c.838G>T (p.Asp280Tyr) c.997G>T (p.Asp333Tyr) | COSMIC |
| 15 | g.38351390A>C | CA391933970 | SPRED1 | c.1061A>C (p.Asp354Ala) c.1097A>C (p.Asp366Ala) c.839A>C (p.Asp280Ala) c.998A>C (p.Asp333Ala) | |
| 15 | g.38351390A>G | CA391933971 | SPRED1 | c.1061A>G (p.Asp354Gly) c.1097A>G (p.Asp366Gly) c.839A>G (p.Asp280Gly) c.998A>G (p.Asp333Gly) | |
| 15 | g.38351390A>T | CA391933973 | SPRED1 | c.1061A>T (p.Asp354Val) c.1097A>T (p.Asp366Val) c.839A>T (p.Asp280Val) c.998A>T (p.Asp333Val) | |
| 15 | g.38351391del | CA2573053987 | SPRED1 | c.1062del (p.Asp354GlufsTer?) c.1098del (p.Asp366GlufsTer?) c.840del (p.Asp280GlufsTer?) c.999del (p.Asp333GlufsTer?) | ClinVar dbSNP |
| 15 | g.38351391T>A | CA391933977 | SPRED1 | c.1062T>A (p.Asp354Glu) c.1098T>A (p.Asp366Glu) c.840T>A (p.Asp280Glu) c.999T>A (p.Asp333Glu) | |
| 15 | g.38351391T>C | CA490012104 | SPRED1 | c.1062T>C (p.Asp354=) c.1098T>C (p.Asp366=) c.840T>C (p.Asp280=) c.999T>C (p.Asp333=) | |
| 15 | g.38351391T>G | CA391933975 | SPRED1 | c.1062T>G (p.Asp354Glu) c.1098T>G (p.Asp366Glu) c.840T>G (p.Asp280Glu) c.999T>G (p.Asp333Glu) | |
| 15 | g.38351392G>A | CA391933979 | SPRED1 | c.1063G>A (p.Ala355Thr) c.1099G>A (p.Ala367Thr) c.841G>A (p.Ala281Thr) c.1000G>A (p.Ala334Thr) | |
| 15 | g.38351392G>C | CA391933981 | SPRED1 | c.1063G>C (p.Ala355Pro) c.1099G>C (p.Ala367Pro) c.841G>C (p.Ala281Pro) c.1000G>C (p.Ala334Pro) | |
| 15 | g.38351392G>T | CA391933983 | SPRED1 | c.1063G>T (p.Ala355Ser) c.1099G>T (p.Ala367Ser) c.841G>T (p.Ala281Ser) c.1000G>T (p.Ala334Ser) | |
| 15 | g.38351393C>A | CA391933984 | SPRED1 | c.1064C>A (p.Ala355Asp) c.1100C>A (p.Ala367Asp) c.842C>A (p.Ala281Asp) c.1001C>A (p.Ala334Asp) | |
| 15 | g.38351393C>G | CA391933986 | SPRED1 | c.1064C>G (p.Ala355Gly) c.1100C>G (p.Ala367Gly) c.842C>G (p.Ala281Gly) c.1001C>G (p.Ala334Gly) | |
| 15 | g.38351393C>T | CA391933988 | SPRED1 | c.1064C>T (p.Ala355Val) c.1100C>T (p.Ala367Val) c.842C>T (p.Ala281Val) c.1001C>T (p.Ala334Val) | |
| 15 | g.38351394T>A | CA490012111 | SPRED1 | c.1065T>A (p.Ala355=) c.1101T>A (p.Ala367=) c.843T>A (p.Ala281=) c.1002T>A (p.Ala334=) | |
| 15 | g.38351394T>C | CA490012113 | SPRED1 | c.1065T>C (p.Ala355=) c.1101T>C (p.Ala367=) c.843T>C (p.Ala281=) c.1002T>C (p.Ala334=) | ClinVar |
| 15 | g.38351394T>G | CA490012112 | SPRED1 | c.1065T>G (p.Ala355=) c.1101T>G (p.Ala367=) c.843T>G (p.Ala281=) c.1002T>G (p.Ala334=) | |
| 15 | g.38351395C>A | CA391933990 | SPRED1 | c.1066C>A (p.Pro356Thr) c.1102C>A (p.Pro368Thr) c.844C>A (p.Pro282Thr) c.1003C>A (p.Pro335Thr) | gnomAD v4 |
| 15 | g.38351395C>G | CA391933992 | SPRED1 | c.1066C>G (p.Pro356Ala) c.1102C>G (p.Pro368Ala) c.844C>G (p.Pro282Ala) c.1003C>G (p.Pro335Ala) | |
| 15 | g.38351395C>T | CA391933991 | SPRED1 | c.1066C>T (p.Pro356Ser) c.1102C>T (p.Pro368Ser) c.844C>T (p.Pro282Ser) c.1003C>T (p.Pro335Ser) | |
| 15 | g.38351396C>A | CA391933994 | SPRED1 | c.1067C>A (p.Pro356Gln) c.1103C>A (p.Pro368Gln) c.845C>A (p.Pro282Gln) c.1004C>A (p.Pro335Gln) | ClinVar |
| 15 | g.38351396C>G | CA391933996 | SPRED1 | c.1067C>G (p.Pro356Arg) c.1103C>G (p.Pro368Arg) c.845C>G (p.Pro282Arg) c.1004C>G (p.Pro335Arg) | |
| 15 | g.38351396C>T | CA391933998 | SPRED1 | c.1067C>T (p.Pro356Leu) c.1103C>T (p.Pro368Leu) c.845C>T (p.Pro282Leu) c.1004C>T (p.Pro335Leu) | |
| 15 | g.38351397A>C | CA490012117 | SPRED1 | c.1068A>C (p.Pro356=) c.1104A>C (p.Pro368=) c.846A>C (p.Pro282=) c.1005A>C (p.Pro335=) | |
| 15 | g.38351397A>G | CA490012120 | SPRED1 | c.1068A>G (p.Pro356=) c.1104A>G (p.Pro368=) c.846A>G (p.Pro282=) c.1005A>G (p.Pro335=) | |
| 15 | g.38351397A>T | CA490012121 | SPRED1 | c.1068A>T (p.Pro356=) c.1104A>T (p.Pro368=) c.846A>T (p.Pro282=) c.1005A>T (p.Pro335=) | |
| 15 | g.38351398G>A | CA391934000 | SPRED1 | c.1069G>A (p.Asp357Asn) c.1105G>A (p.Asp369Asn) c.847G>A (p.Asp283Asn) c.1006G>A (p.Asp336Asn) | |
| 15 | g.38351398G>C | CA391934001 | SPRED1 | c.1069G>C (p.Asp357His) c.1105G>C (p.Asp369His) c.847G>C (p.Asp283His) c.1006G>C (p.Asp336His) | |
| 15 | g.38351398G>T | CA391934003 | SPRED1 | c.1069G>T (p.Asp357Tyr) c.1105G>T (p.Asp369Tyr) c.847G>T (p.Asp283Tyr) c.1006G>T (p.Asp336Tyr) | |
| 15 | g.38351399A>C | CA391934005 | SPRED1 | c.1070A>C (p.Asp357Ala) c.1106A>C (p.Asp369Ala) c.848A>C (p.Asp283Ala) c.1007A>C (p.Asp336Ala) | |
| 15 | g.38351399A>G | CA391934006 | SPRED1 | c.1070A>G (p.Asp357Gly) c.1106A>G (p.Asp369Gly) c.848A>G (p.Asp283Gly) c.1007A>G (p.Asp336Gly) | COSMIC |
| 15 | g.38351399A>T | CA391934008 | SPRED1 | c.1070A>T (p.Asp357Val) c.1106A>T (p.Asp369Val) c.848A>T (p.Asp283Val) c.1007A>T (p.Asp336Val) | |
| 15 | g.38351400C>A | CA391934010 | SPRED1 | c.1071C>A (p.Asp357Glu) c.1107C>A (p.Asp369Glu) c.849C>A (p.Asp283Glu) c.1008C>A (p.Asp336Glu) | |
| 15 | g.38351400C>G | CA391934013 | SPRED1 | c.1071C>G (p.Asp357Glu) c.1107C>G (p.Asp369Glu) c.849C>G (p.Asp283Glu) c.1008C>G (p.Asp336Glu) | |
| 15 | g.38351400C>T | CA490012133 | SPRED1 | c.1071C>T (p.Asp357=) c.1107C>T (p.Asp369=) c.849C>T (p.Asp283=) c.1008C>T (p.Asp336=) | gnomAD v4 |
| 15 | g.38351402del | CA658761253 | SPRED1 | c.1073del (p.Pro358LeufsTer?) c.1109del (p.Pro370LeufsTer?) c.851del (p.Pro284LeufsTer?) c.1010del (p.Pro337LeufsTer?) | ClinVar |
| 15 | g.38351401C>A | CA391934016 | SPRED1 | c.1072C>A (p.Pro358Thr) c.1108C>A (p.Pro370Thr) c.850C>A (p.Pro284Thr) c.1009C>A (p.Pro337Thr) | |
| 15 | g.38351401C>G | CA391934018 | SPRED1 | c.1072C>G (p.Pro358Ala) c.1108C>G (p.Pro370Ala) c.850C>G (p.Pro284Ala) c.1009C>G (p.Pro337Ala) | |
| 15 | g.38351401C>T | CA391934017 | SPRED1 | c.1072C>T (p.Pro358Ser) c.1108C>T (p.Pro370Ser) c.850C>T (p.Pro284Ser) c.1009C>T (p.Pro337Ser) | |
| 15 | g.38351402C>A | CA391934020 | SPRED1 | c.1073C>A (p.Pro358His) c.1109C>A (p.Pro370His) c.851C>A (p.Pro284His) c.1010C>A (p.Pro337His) | |
| 15 | g.38351402C= | CA2170812701 | SPRED1 | c.1073C= (p.Pro358=) c.1109C= (p.Pro370=) c.851C= (p.Pro284=) c.1010C= (p.Pro337=) | |
| 15 | g.38351402C>G | CA7470225 | SPRED1 | c.1073C>G (p.Pro358Arg) c.1109C>G (p.Pro370Arg) c.851C>G (p.Pro284Arg) c.1010C>G (p.Pro337Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.38351402C>T | CA391934023 | SPRED1 | c.1073C>T (p.Pro358Leu) c.1109C>T (p.Pro370Leu) c.851C>T (p.Pro284Leu) c.1010C>T (p.Pro337Leu) | gnomAD v4 |
| 15 | g.38351403T>A | CA490012142 | SPRED1 | c.1074T>A (p.Pro358=) c.1110T>A (p.Pro370=) c.852T>A (p.Pro284=) c.1011T>A (p.Pro337=) | dbSNP |
| 15 | g.38351403T>C | CA490012140 | SPRED1 | c.1074T>C (p.Pro358=) c.1110T>C (p.Pro370=) c.852T>C (p.Pro284=) c.1011T>C (p.Pro337=) | |
| 15 | g.38351403T>G | CA490012141 | SPRED1 | c.1074T>G (p.Pro358=) c.1110T>G (p.Pro370=) c.852T>G (p.Pro284=) c.1011T>G (p.Pro337=) | |
| 15 | g.38351403T= | CA2170812702 | SPRED1 | c.1074T= (p.Pro358=) c.1110T= (p.Pro370=) c.852T= (p.Pro284=) c.1011T= (p.Pro337=) | |
| 15 | g.38351404_38351405insAGTA | CA2580089331 | SPRED1 | c.1075_1076insAGTA (p.Ile359LysfsTer3) c.1111_1112insAGTA (p.Ile371LysfsTer3) c.853_854insAGTA (p.Ile285LysfsTer3) c.1012_1013insAGTA (p.Ile338LysfsTer3) | ClinVar |
| 15 | g.38351404A>C | CA391934025 | SPRED1 | c.1075A>C (p.Ile359Leu) c.1111A>C (p.Ile371Leu) c.853A>C (p.Ile285Leu) c.1012A>C (p.Ile338Leu) | |
| 15 | g.38351404A>G | CA391934027 | SPRED1 | c.1075A>G (p.Ile359Val) c.1111A>G (p.Ile371Val) c.853A>G (p.Ile285Val) c.1012A>G (p.Ile338Val) | gnomAD v4 |
| 15 | g.38351404A>T | CA391934028 | SPRED1 | c.1075A>T (p.Ile359Phe) c.1111A>T (p.Ile371Phe) c.853A>T (p.Ile285Phe) c.1012A>T (p.Ile338Phe) | |
| 15 | g.38351405T>A | CA7470226 | SPRED1 | c.1076T>A (p.Ile359Asn) c.1112T>A (p.Ile371Asn) c.854T>A (p.Ile285Asn) c.1013T>A (p.Ile338Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.38351405T>C | CA391934031 | SPRED1 | c.1076T>C (p.Ile359Thr) c.1112T>C (p.Ile371Thr) c.854T>C (p.Ile285Thr) c.1013T>C (p.Ile338Thr) | |
| 15 | g.38351405T>G | CA391934033 | SPRED1 | c.1076T>G (p.Ile359Ser) c.1112T>G (p.Ile371Ser) c.854T>G (p.Ile285Ser) c.1013T>G (p.Ile338Ser) | |
| 15 | g.38351405T= | CA2170812703 | SPRED1 | c.1076T= (p.Ile359=) c.1112T= (p.Ile371=) c.854T= (p.Ile285=) c.1013T= (p.Ile338=) | |
| 15 | g.38351406T>A | CA490012149 | SPRED1 | c.1077T>A (p.Ile359=) c.1113T>A (p.Ile371=) c.855T>A (p.Ile285=) c.1014T>A (p.Ile338=) | |
| 15 | g.38351406T>C | CA490012151 | SPRED1 | c.1077T>C (p.Ile359=) c.1113T>C (p.Ile371=) c.855T>C (p.Ile285=) c.1014T>C (p.Ile338=) | |
| 15 | g.38351406T>G | CA391934034 | SPRED1 | c.1077T>G (p.Ile359Met) c.1113T>G (p.Ile371Met) c.855T>G (p.Ile285Met) c.1014T>G (p.Ile338Met) | |
| 15 | g.38351407A= | CA2170812704 | SPRED1 | c.1078A= (p.Lys360=) c.1114A= (p.Lys372=) c.856A= (p.Lys286=) c.1015A= (p.Lys339=) | |
| 15 | g.38351407A>C | CA391934037 | SPRED1 | c.1078A>C (p.Lys360Gln) c.1114A>C (p.Lys372Gln) c.856A>C (p.Lys286Gln) c.1015A>C (p.Lys339Gln) | |
| 15 | g.38351407A>G | CA269293459 | SPRED1 | c.1078A>G (p.Lys360Glu) c.1114A>G (p.Lys372Glu) c.856A>G (p.Lys286Glu) c.1015A>G (p.Lys339Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351407A>T | CA391934038 | SPRED1 | c.1078A>T (p.Lys360Ter) c.1114A>T (p.Lys372Ter) c.856A>T (p.Lys286Ter) c.1015A>T (p.Lys339Ter) | |
| 15 | g.38351408A>C | CA391934041 | SPRED1 | c.1079A>C (p.Lys360Thr) c.1115A>C (p.Lys372Thr) c.857A>C (p.Lys286Thr) c.1016A>C (p.Lys339Thr) | gnomAD v4 |
| 15 | g.38351408A>G | CA391934044 | SPRED1 | c.1079A>G (p.Lys360Arg) c.1115A>G (p.Lys372Arg) c.857A>G (p.Lys286Arg) c.1016A>G (p.Lys339Arg) | |
| 15 | g.38351408A>T | CA391934042 | SPRED1 | c.1079A>T (p.Lys360Ile) c.1115A>T (p.Lys372Ile) c.857A>T (p.Lys286Ile) c.1016A>T (p.Lys339Ile) | |
| 15 | g.38351409A= | CA2170812705 | SPRED1 | c.1080A= (p.Lys360=) c.1116A= (p.Lys372=) c.858A= (p.Lys286=) c.1017A= (p.Lys339=) | |
| 15 | g.38351409A>C | CA391934046 | SPRED1 | c.1080A>C (p.Lys360Asn) c.1116A>C (p.Lys372Asn) c.858A>C (p.Lys286Asn) c.1017A>C (p.Lys339Asn) | |
| 15 | g.38351409A>G | CA7470227 | SPRED1 | c.1080A>G (p.Lys360=) c.1116A>G (p.Lys372=) c.858A>G (p.Lys286=) c.1017A>G (p.Lys339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351409A>T | CA391934048 | SPRED1 | c.1080A>T (p.Lys360Asn) c.1116A>T (p.Lys372Asn) c.858A>T (p.Lys286Asn) c.1017A>T (p.Lys339Asn) | |
| 15 | g.38351410A>C | CA490012158 | SPRED1 | c.1081A>C (p.Arg361=) c.1117A>C (p.Arg373=) c.859A>C (p.Arg287=) c.1018A>C (p.Arg340=) | |
| 15 | g.38351410A>G | CA391934050 | SPRED1 | c.1081A>G (p.Arg361Gly) c.1117A>G (p.Arg373Gly) c.859A>G (p.Arg287Gly) c.1018A>G (p.Arg340Gly) | |
| 15 | g.38351410A>T | CA391934051 | SPRED1 | c.1081A>T (p.Arg361Ter) c.1117A>T (p.Arg373Ter) c.859A>T (p.Arg287Ter) c.1018A>T (p.Arg340Ter) |