| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.115414089_115416214del | CA2573332827 | TRPS1 | c.2824-1128_3821del c.2785-1128_3782del c.2047-1128_3044del c.2797-1128_3794del c.2803-1128_3800del | |
| 8 | g.115414124G>A | CA16618582 | TRPS1 | c.3784C>T (p.Gln1262Ter) c.3745C>T (p.Gln1249Ter) c.3007C>T (p.Gln1003Ter) c.3757C>T (p.Gln1253Ter) c.3763C>T (p.Gln1255Ter) | ClinVar dbSNP |
| 8 | g.115414124G>C | CA372061982 | TRPS1 | c.3784C>G (p.Gln1262Glu) c.3745C>G (p.Gln1249Glu) c.3007C>G (p.Gln1003Glu) c.3757C>G (p.Gln1253Glu) c.3763C>G (p.Gln1255Glu) | |
| 8 | g.115414124G= | CA1812853656 | TRPS1 | c.3784C= (p.Gln1262=) c.3745C= (p.Gln1249=) c.3007C= (p.Gln1003=) c.3757C= (p.Gln1253=) c.3763C= (p.Gln1255=) | |
| 8 | g.115414124G>T | CA372061981 | TRPS1 | c.3784C>A (p.Gln1262Lys) c.3745C>A (p.Gln1249Lys) c.3007C>A (p.Gln1003Lys) c.3757C>A (p.Gln1253Lys) c.3763C>A (p.Gln1255Lys) | |
| 8 | g.115414125G>A | CA462658117 | TRPS1 | c.3783C>T (p.Cys1261=) c.3744C>T (p.Cys1248=) c.3006C>T (p.Cys1002=) c.3756C>T (p.Cys1252=) c.3762C>T (p.Cys1254=) | |
| 8 | g.115414125G>C | CA372061983 | TRPS1 | c.3783C>G (p.Cys1261Trp) c.3744C>G (p.Cys1248Trp) c.3006C>G (p.Cys1002Trp) c.3756C>G (p.Cys1252Trp) c.3762C>G (p.Cys1254Trp) | |
| 8 | g.115414125G>T | CA372061984 | TRPS1 | c.3783C>A (p.Cys1261Ter) c.3744C>A (p.Cys1248Ter) c.3006C>A (p.Cys1002Ter) c.3756C>A (p.Cys1252Ter) c.3762C>A (p.Cys1254Ter) | COSMIC COSMIC |
| 8 | g.115414126C>A | CA372061985 | TRPS1 | c.3782G>T (p.Cys1261Phe) c.3743G>T (p.Cys1248Phe) c.3005G>T (p.Cys1002Phe) c.3755G>T (p.Cys1252Phe) c.3761G>T (p.Cys1254Phe) | |
| 8 | g.115414126C>G | CA372061986 | TRPS1 | c.3782G>C (p.Cys1261Ser) c.3743G>C (p.Cys1248Ser) c.3005G>C (p.Cys1002Ser) c.3755G>C (p.Cys1252Ser) c.3761G>C (p.Cys1254Ser) | |
| 8 | g.115414126C>T | CA372061987 | TRPS1 | c.3782G>A (p.Cys1261Tyr) c.3743G>A (p.Cys1248Tyr) c.3005G>A (p.Cys1002Tyr) c.3755G>A (p.Cys1252Tyr) c.3761G>A (p.Cys1254Tyr) | |
| 8 | g.115414127A>C | CA372061988 | TRPS1 | c.3781T>G (p.Cys1261Gly) c.3742T>G (p.Cys1248Gly) c.3004T>G (p.Cys1002Gly) c.3754T>G (p.Cys1252Gly) c.3760T>G (p.Cys1254Gly) | |
| 8 | g.115414127A>G | CA372061989 | TRPS1 | c.3781T>C (p.Cys1261Arg) c.3742T>C (p.Cys1248Arg) c.3004T>C (p.Cys1002Arg) c.3754T>C (p.Cys1252Arg) c.3760T>C (p.Cys1254Arg) | |
| 8 | g.115414127A>T | CA372061990 | TRPS1 | c.3781T>A (p.Cys1261Ser) c.3742T>A (p.Cys1248Ser) c.3004T>A (p.Cys1002Ser) c.3754T>A (p.Cys1252Ser) c.3760T>A (p.Cys1254Ser) | |
| 8 | g.115414128T>A | CA462658118 | TRPS1 | c.3780A>T (p.Ile1260=) c.3741A>T (p.Ile1247=) c.3003A>T (p.Ile1001=) c.3753A>T (p.Ile1251=) c.3759A>T (p.Ile1253=) | |
| 8 | g.115414128T>C | CA372061991 | TRPS1 | c.3780A>G (p.Ile1260Met) c.3741A>G (p.Ile1247Met) c.3003A>G (p.Ile1001Met) c.3753A>G (p.Ile1251Met) c.3759A>G (p.Ile1253Met) | gnomAD v4 |
| 8 | g.115414128T>G | CA462658119 | TRPS1 | c.3780A>C (p.Ile1260=) c.3741A>C (p.Ile1247=) c.3003A>C (p.Ile1001=) c.3753A>C (p.Ile1251=) c.3759A>C (p.Ile1253=) | |
| 8 | g.115414129A= | CA1812853660 | TRPS1 | c.3779T= (p.Ile1260=) c.3740T= (p.Ile1247=) c.3002T= (p.Ile1001=) c.3752T= (p.Ile1251=) c.3758T= (p.Ile1253=) | |
| 8 | g.115414129A>C | CA372061992 | TRPS1 | c.3779T>G (p.Ile1260Arg) c.3740T>G (p.Ile1247Arg) c.3002T>G (p.Ile1001Arg) c.3752T>G (p.Ile1251Arg) c.3758T>G (p.Ile1253Arg) | |
| 8 | g.115414129A>G | CA372061993 | TRPS1 | c.3779T>C (p.Ile1260Thr) c.3740T>C (p.Ile1247Thr) c.3002T>C (p.Ile1001Thr) c.3752T>C (p.Ile1251Thr) c.3758T>C (p.Ile1253Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414129A>T | CA372061994 | TRPS1 | c.3779T>A (p.Ile1260Lys) c.3740T>A (p.Ile1247Lys) c.3002T>A (p.Ile1001Lys) c.3752T>A (p.Ile1251Lys) c.3758T>A (p.Ile1253Lys) | |
| 8 | g.115414130T>A | CA372061996 | TRPS1 | c.3778A>T (p.Ile1260Leu) c.3739A>T (p.Ile1247Leu) c.3001A>T (p.Ile1001Leu) c.3751A>T (p.Ile1251Leu) c.3757A>T (p.Ile1253Leu) | |
| 8 | g.115414130T>C | CA372061997 | TRPS1 | c.3778A>G (p.Ile1260Val) c.3739A>G (p.Ile1247Val) c.3001A>G (p.Ile1001Val) c.3751A>G (p.Ile1251Val) c.3757A>G (p.Ile1253Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414130T>G | CA372061995 | TRPS1 | c.3778A>C (p.Ile1260Leu) c.3739A>C (p.Ile1247Leu) c.3001A>C (p.Ile1001Leu) c.3751A>C (p.Ile1251Leu) c.3757A>C (p.Ile1253Leu) | dbSNP |
| 8 | g.115414130T= | CA1812853662 | TRPS1 | c.3778A= (p.Ile1260=) c.3739A= (p.Ile1247=) c.3001A= (p.Ile1001=) c.3751A= (p.Ile1251=) c.3757A= (p.Ile1253=) | |
| 8 | g.115414131G>A | CA462658120 | TRPS1 | c.3777C>T (p.Ser1259=) c.3738C>T (p.Ser1246=) c.3000C>T (p.Ser1000=) c.3750C>T (p.Ser1250=) c.3756C>T (p.Ser1252=) | |
| 8 | g.115414131G>C | CA372061998 | TRPS1 | c.3777C>G (p.Ser1259Arg) c.3738C>G (p.Ser1246Arg) c.3000C>G (p.Ser1000Arg) c.3750C>G (p.Ser1250Arg) c.3756C>G (p.Ser1252Arg) | |
| 8 | g.115414131G>T | CA372061999 | TRPS1 | c.3777C>A (p.Ser1259Arg) c.3738C>A (p.Ser1246Arg) c.3000C>A (p.Ser1000Arg) c.3750C>A (p.Ser1250Arg) c.3756C>A (p.Ser1252Arg) | |
| 8 | g.115414132C>A | CA372062000 | TRPS1 | c.3776G>T (p.Ser1259Ile) c.3737G>T (p.Ser1246Ile) c.2999G>T (p.Ser1000Ile) c.3749G>T (p.Ser1250Ile) c.3755G>T (p.Ser1252Ile) | gnomAD v4 |
| 8 | g.115414132C>G | CA372062001 | TRPS1 | c.3776G>C (p.Ser1259Thr) c.3737G>C (p.Ser1246Thr) c.2999G>C (p.Ser1000Thr) c.3749G>C (p.Ser1250Thr) c.3755G>C (p.Ser1252Thr) | |
| 8 | g.115414132C>T | CA372062002 | TRPS1 | c.3776G>A (p.Ser1259Asn) c.3737G>A (p.Ser1246Asn) c.2999G>A (p.Ser1000Asn) c.3749G>A (p.Ser1250Asn) c.3755G>A (p.Ser1252Asn) | gnomAD v4 |
| 8 | g.115414133T>A | CA372062005 | TRPS1 | c.3775A>T (p.Ser1259Cys) c.3736A>T (p.Ser1246Cys) c.2998A>T (p.Ser1000Cys) c.3748A>T (p.Ser1250Cys) c.3754A>T (p.Ser1252Cys) | |
| 8 | g.115414133T>C | CA372062003 | TRPS1 | c.3775A>G (p.Ser1259Gly) c.3736A>G (p.Ser1246Gly) c.2998A>G (p.Ser1000Gly) c.3748A>G (p.Ser1250Gly) c.3754A>G (p.Ser1252Gly) | |
| 8 | g.115414133T>G | CA372062004 | TRPS1 | c.3775A>C (p.Ser1259Arg) c.3736A>C (p.Ser1246Arg) c.2998A>C (p.Ser1000Arg) c.3748A>C (p.Ser1250Arg) c.3754A>C (p.Ser1252Arg) | |
| 8 | g.115414134G>A | CA462658121 | TRPS1 | c.3774C>T (p.Cys1258=) c.3735C>T (p.Cys1245=) c.2997C>T (p.Cys999=) c.3747C>T (p.Cys1249=) c.3753C>T (p.Cys1251=) | |
| 8 | g.115414134G>C | CA372062006 | TRPS1 | c.3774C>G (p.Cys1258Trp) c.3735C>G (p.Cys1245Trp) c.2997C>G (p.Cys999Trp) c.3747C>G (p.Cys1249Trp) c.3753C>G (p.Cys1251Trp) | |
| 8 | g.115414134G>T | CA372062007 | TRPS1 | c.3774C>A (p.Cys1258Ter) c.3735C>A (p.Cys1245Ter) c.2997C>A (p.Cys999Ter) c.3747C>A (p.Cys1249Ter) c.3753C>A (p.Cys1251Ter) | |
| 8 | g.115414135C>A | CA372062008 | TRPS1 | c.3773G>T (p.Cys1258Phe) c.3734G>T (p.Cys1245Phe) c.2996G>T (p.Cys999Phe) c.3746G>T (p.Cys1249Phe) c.3752G>T (p.Cys1251Phe) | |
| 8 | g.115414135C>G | CA372062009 | TRPS1 | c.3773G>C (p.Cys1258Ser) c.3734G>C (p.Cys1245Ser) c.2996G>C (p.Cys999Ser) c.3746G>C (p.Cys1249Ser) c.3752G>C (p.Cys1251Ser) | |
| 8 | g.115414135C>T | CA372062010 | TRPS1 | c.3773G>A (p.Cys1258Tyr) c.3734G>A (p.Cys1245Tyr) c.2996G>A (p.Cys999Tyr) c.3746G>A (p.Cys1249Tyr) c.3752G>A (p.Cys1251Tyr) | |
| 8 | g.115414136A= | CA1812853665 | TRPS1 | c.3772T= (p.Cys1258=) c.3733T= (p.Cys1245=) c.2995T= (p.Cys999=) c.3745T= (p.Cys1249=) c.3751T= (p.Cys1251=) | |
| 8 | g.115414136A>C | CA372062013 | TRPS1 | c.3772T>G (p.Cys1258Gly) c.3733T>G (p.Cys1245Gly) c.2995T>G (p.Cys999Gly) c.3745T>G (p.Cys1249Gly) c.3751T>G (p.Cys1251Gly) | |
| 8 | g.115414136A>G | CA372062011 | TRPS1 | c.3772T>C (p.Cys1258Arg) c.3733T>C (p.Cys1245Arg) c.2995T>C (p.Cys999Arg) c.3745T>C (p.Cys1249Arg) c.3751T>C (p.Cys1251Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414136A>T | CA372062012 | TRPS1 | c.3772T>A (p.Cys1258Ser) c.3733T>A (p.Cys1245Ser) c.2995T>A (p.Cys999Ser) c.3745T>A (p.Cys1249Ser) c.3751T>A (p.Cys1251Ser) | |
| 8 | g.115414137C>A | CA372062014 | TRPS1 | c.3771G>T (p.Gln1257His) c.3732G>T (p.Gln1244His) c.2994G>T (p.Gln998His) c.3744G>T (p.Gln1248His) c.3750G>T (p.Gln1250His) | gnomAD v4 |
| 8 | g.115414137C>G | CA372062015 | TRPS1 | c.3771G>C (p.Gln1257His) c.3732G>C (p.Gln1244His) c.2994G>C (p.Gln998His) c.3744G>C (p.Gln1248His) c.3750G>C (p.Gln1250His) | |
| 8 | g.115414137C>T | CA462658122 | TRPS1 | c.3771G>A (p.Gln1257=) c.3732G>A (p.Gln1244=) c.2994G>A (p.Gln998=) c.3744G>A (p.Gln1248=) c.3750G>A (p.Gln1250=) | |
| 8 | g.115414138T>A | CA372062016 | TRPS1 | c.3770A>T (p.Gln1257Leu) c.3731A>T (p.Gln1244Leu) c.2993A>T (p.Gln998Leu) c.3743A>T (p.Gln1248Leu) c.3749A>T (p.Gln1250Leu) | |
| 8 | g.115414138T>C | CA4851449 | TRPS1 | c.3770A>G (p.Gln1257Arg) c.3731A>G (p.Gln1244Arg) c.2993A>G (p.Gln998Arg) c.3743A>G (p.Gln1248Arg) c.3749A>G (p.Gln1250Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414138T>G | CA372062017 | TRPS1 | c.3770A>C (p.Gln1257Pro) c.3731A>C (p.Gln1244Pro) c.2993A>C (p.Gln998Pro) c.3743A>C (p.Gln1248Pro) c.3749A>C (p.Gln1250Pro) |