| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) | |
| 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) |