| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.38351013G>A | CA391933006 | SPRED1 | c.685-1G>A (n.685-1G>A) c.721-1G>A (n.721-1G>A) c.463-1G>A (n.463-1G>A) c.622-1G>A (n.622-1G>A) | COSMIC |
| 15 | g.38351013G>C | CA391933007 | SPRED1 | c.685-1G>C (n.685-1G>C) c.721-1G>C (n.721-1G>C) c.463-1G>C (n.463-1G>C) c.622-1G>C (n.622-1G>C) | |
| 15 | g.38351013G= | CA2170812541 | SPRED1 | c.685-1G= (n.685-1G=) c.721-1G= (n.721-1G=) c.463-1G= (n.463-1G=) c.622-1G= (n.622-1G=) | |
| 15 | g.38351013G>T | CA269293437 | SPRED1 | c.685-1G>T (n.685-1G>T) c.721-1G>T (n.721-1G>T) c.463-1G>T (n.463-1G>T) c.622-1G>T (n.622-1G>T) | dbSNP |
| 15 | g.38351014G>A | CA269293439 | SPRED1 | c.685G>A (p.Val229Ile) c.721G>A (p.Val241Ile) c.463G>A (p.Val155Ile) c.622G>A (p.Val208Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351014G>C | CA391933008 | SPRED1 | c.685G>C (p.Val229Leu) c.721G>C (p.Val241Leu) c.463G>C (p.Val155Leu) c.622G>C (p.Val208Leu) | |
| 15 | g.38351014G= | CA2170812542 | SPRED1 | c.685G= (p.Val229=) c.721G= (p.Val241=) c.463G= (p.Val155=) c.622G= (p.Val208=) | |
| 15 | g.38351014G>T | CA269293438 | SPRED1 | c.685G>T (p.Val229Phe) c.721G>T (p.Val241Phe) c.463G>T (p.Val155Phe) c.622G>T (p.Val208Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351015T>A | CA391933011 | SPRED1 | c.686T>A (p.Val229Asp) c.722T>A (p.Val241Asp) c.464T>A (p.Val155Asp) c.623T>A (p.Val208Asp) | |
| 15 | g.38351015T>C | CA391933009 | SPRED1 | c.686T>C (p.Val229Ala) c.722T>C (p.Val241Ala) c.464T>C (p.Val155Ala) c.623T>C (p.Val208Ala) | dbSNP gnomAD v4 COSMIC |
| 15 | g.38351015T>G | CA391933010 | SPRED1 | c.686T>G (p.Val229Gly) c.722T>G (p.Val241Gly) c.464T>G (p.Val155Gly) c.623T>G (p.Val208Gly) | |
| 15 | g.38351015T= | CA2170812543 | SPRED1 | c.686T= (p.Val229=) c.722T= (p.Val241=) c.464T= (p.Val155=) c.623T= (p.Val208=) | |
| 15 | g.38351016C>A | CA7470183 | SPRED1 | c.687C>A (p.Val229=) c.723C>A (p.Val241=) c.465C>A (p.Val155=) c.624C>A (p.Val208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351016C= | CA2170812544 | SPRED1 | c.687C= (p.Val229=) c.723C= (p.Val241=) c.465C= (p.Val155=) c.624C= (p.Val208=) | |
| 15 | g.38351016C>G | CA489922881 | SPRED1 | c.687C>G (p.Val229=) c.723C>G (p.Val241=) c.465C>G (p.Val155=) c.624C>G (p.Val208=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351016C>T | CA489922882 | SPRED1 | c.687C>T (p.Val229=) c.723C>T (p.Val241=) c.465C>T (p.Val155=) c.624C>T (p.Val208=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.38351017C>A | CA391933012 | SPRED1 | c.688C>A (p.Pro230Thr) c.724C>A (p.Pro242Thr) c.466C>A (p.Pro156Thr) c.625C>A (p.Pro209Thr) | |
| 15 | g.38351017C= | CA2170812545 | SPRED1 | c.688C= (p.Pro230=) c.724C= (p.Pro242=) c.466C= (p.Pro156=) c.625C= (p.Pro209=) | |
| 15 | g.38351017C>G | CA391933013 | SPRED1 | c.688C>G (p.Pro230Ala) c.724C>G (p.Pro242Ala) c.466C>G (p.Pro156Ala) c.625C>G (p.Pro209Ala) | |
| 15 | g.38351017C>T | CA391933014 | SPRED1 | c.688C>T (p.Pro230Ser) c.724C>T (p.Pro242Ser) c.466C>T (p.Pro156Ser) c.625C>T (p.Pro209Ser) | dbSNP COSMIC |
| 15 | g.38351018C>A | CA391933015 | SPRED1 | c.689C>A (p.Pro230His) c.725C>A (p.Pro242His) c.467C>A (p.Pro156His) c.626C>A (p.Pro209His) | COSMIC |
| 15 | g.38351018C>G | CA391933016 | SPRED1 | c.689C>G (p.Pro230Arg) c.725C>G (p.Pro242Arg) c.467C>G (p.Pro156Arg) c.626C>G (p.Pro209Arg) | ClinVar dbSNP |
| 15 | g.38351018C>T | CA391933017 | SPRED1 | c.689C>T (p.Pro230Leu) c.725C>T (p.Pro242Leu) c.467C>T (p.Pro156Leu) c.626C>T (p.Pro209Leu) | |
| 15 | g.38351019T>A | CA489922883 | SPRED1 | c.690T>A (p.Pro230=) c.726T>A (p.Pro242=) c.468T>A (p.Pro156=) c.627T>A (p.Pro209=) | |
| 15 | g.38351019T>C | CA489922884 | SPRED1 | c.690T>C (p.Pro230=) c.726T>C (p.Pro242=) c.468T>C (p.Pro156=) c.627T>C (p.Pro209=) | |
| 15 | g.38351019T>G | CA489922885 | SPRED1 | c.690T>G (p.Pro230=) c.726T>G (p.Pro242=) c.468T>G (p.Pro156=) c.627T>G (p.Pro209=) | |
| 15 | g.38351021del | CA2573150669 | SPRED1 | c.692del (p.Leu231Ter) c.728del (p.Leu243Ter) c.470del (p.Leu157Ter) c.629del (p.Leu210Ter) | ClinVar dbSNP |
| 15 | g.38351020T>A | CA391933018 | SPRED1 | c.691T>A (p.Leu231Met) c.727T>A (p.Leu243Met) c.469T>A (p.Leu157Met) c.628T>A (p.Leu210Met) | |
| 15 | g.38351020T>C | CA489922886 | SPRED1 | c.691T>C (p.Leu231=) c.727T>C (p.Leu243=) c.469T>C (p.Leu157=) c.628T>C (p.Leu210=) | |
| 15 | g.38351020T>G | CA391933019 | SPRED1 | c.691T>G (p.Leu231Val) c.727T>G (p.Leu243Val) c.469T>G (p.Leu157Val) c.628T>G (p.Leu210Val) | |
| 15 | g.38351021T>A | CA391933020 | SPRED1 | c.692T>A (p.Leu231Ter) c.728T>A (p.Leu243Ter) c.470T>A (p.Leu157Ter) c.629T>A (p.Leu210Ter) | |
| 15 | g.38351021T>C | CA391933021 | SPRED1 | c.692T>C (p.Leu231Ser) c.728T>C (p.Leu243Ser) c.470T>C (p.Leu157Ser) c.629T>C (p.Leu210Ser) | |
| 15 | g.38351021T>G | CA391933022 | SPRED1 | c.692T>G (p.Leu231Trp) c.728T>G (p.Leu243Trp) c.470T>G (p.Leu157Trp) c.629T>G (p.Leu210Trp) | |
| 15 | g.38351022G>A | CA489922888 | SPRED1 | c.693G>A (p.Leu231=) c.729G>A (p.Leu243=) c.471G>A (p.Leu157=) c.630G>A (p.Leu210=) | |
| 15 | g.38351022G>C | CA391933024 | SPRED1 | c.693G>C (p.Leu231Phe) c.729G>C (p.Leu243Phe) c.471G>C (p.Leu157Phe) c.630G>C (p.Leu210Phe) | |
| 15 | g.38351022G>T | CA391933023 | SPRED1 | c.693G>T (p.Leu231Phe) c.729G>T (p.Leu243Phe) c.471G>T (p.Leu157Phe) c.630G>T (p.Leu210Phe) | |
| 15 | g.38351023A>C | CA391933025 | SPRED1 | c.694A>C (p.Lys232Gln) c.730A>C (p.Lys244Gln) c.472A>C (p.Lys158Gln) c.631A>C (p.Lys211Gln) | |
| 15 | g.38351023A>G | CA391933027 | SPRED1 | c.694A>G (p.Lys232Glu) c.730A>G (p.Lys244Glu) c.472A>G (p.Lys158Glu) c.631A>G (p.Lys211Glu) | |
| 15 | g.38351023A>T | CA391933026 | SPRED1 | c.694A>T (p.Lys232Ter) c.730A>T (p.Lys244Ter) c.472A>T (p.Lys158Ter) c.631A>T (p.Lys211Ter) | |
| 15 | g.38351025del | CA2697554334 | SPRED1 | c.696del (p.Lys232AsnfsTer17) c.732del (p.Lys244AsnfsTer17) c.474del (p.Lys158AsnfsTer17) c.633del (p.Lys211AsnfsTer17) | ClinVar |
| 15 | g.38351024A>C | CA391933028 | SPRED1 | c.695A>C (p.Lys232Thr) c.731A>C (p.Lys244Thr) c.473A>C (p.Lys158Thr) c.632A>C (p.Lys211Thr) | |
| 15 | g.38351024A>G | CA391933030 | SPRED1 | c.695A>G (p.Lys232Arg) c.731A>G (p.Lys244Arg) c.473A>G (p.Lys158Arg) c.632A>G (p.Lys211Arg) | |
| 15 | g.38351024A>T | CA391933029 | SPRED1 | c.695A>T (p.Lys232Ile) c.731A>T (p.Lys244Ile) c.473A>T (p.Lys158Ile) c.632A>T (p.Lys211Ile) | |
| 15 | g.38351029_38351032del | CA658761273 | SPRED1 | c.700_703del (p.Ile234AspfsTer14) c.736_739del (p.Ile246AspfsTer14) c.478_481del (p.Ile160AspfsTer14) c.637_640del (p.Ile213AspfsTer14) | |
| 15 | g.38351025A= | CA2170812546 | SPRED1 | c.696A= (p.Lys232=) c.732A= (p.Lys244=) c.474A= (p.Lys158=) c.633A= (p.Lys211=) | |
| 15 | g.38351025A>C | CA391933031 | SPRED1 | c.696A>C (p.Lys232Asn) c.732A>C (p.Lys244Asn) c.474A>C (p.Lys158Asn) c.633A>C (p.Lys211Asn) | |
| 15 | g.38351025A>G | CA7470184 | SPRED1 | c.696A>G (p.Lys232=) c.732A>G (p.Lys244=) c.474A>G (p.Lys158=) c.633A>G (p.Lys211=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.38351025A>T | CA391933032 | SPRED1 | c.696A>T (p.Lys232Asn) c.732A>T (p.Lys244Asn) c.474A>T (p.Lys158Asn) c.633A>T (p.Lys211Asn) | |
| 15 | g.38351026T>A | CA391933033 | SPRED1 | c.697T>A (p.Ser233Thr) c.733T>A (p.Ser245Thr) c.475T>A (p.Ser159Thr) c.634T>A (p.Ser212Thr) | |
| 15 | g.38351026T>C | CA391933034 | SPRED1 | c.697T>C (p.Ser233Pro) c.733T>C (p.Ser245Pro) c.475T>C (p.Ser159Pro) c.634T>C (p.Ser212Pro) | gnomAD v4 |