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) | |
8 | g.115414138T= | CA1812853667 | TRPS1 | c.3770A= (p.Gln1257=) c.3731A= (p.Gln1244=) c.2993A= (p.Gln998=) c.3743A= (p.Gln1248=) c.3749A= (p.Gln1250=) | |
8 | g.115414139G>A | CA372062018 | TRPS1 | c.3769C>T (p.Gln1257Ter) c.3730C>T (p.Gln1244Ter) c.2992C>T (p.Gln998Ter) c.3742C>T (p.Gln1248Ter) c.3748C>T (p.Gln1250Ter) | |
8 | g.115414139G>C | CA372062019 | TRPS1 | c.3769C>G (p.Gln1257Glu) c.3730C>G (p.Gln1244Glu) c.2992C>G (p.Gln998Glu) c.3742C>G (p.Gln1248Glu) c.3748C>G (p.Gln1250Glu) | gnomAD v4 |
8 | g.115414139G>T | CA372062020 | TRPS1 | c.3769C>A (p.Gln1257Lys) c.3730C>A (p.Gln1244Lys) c.2992C>A (p.Gln998Lys) c.3742C>A (p.Gln1248Lys) c.3748C>A (p.Gln1250Lys) | |
8 | g.115414140G>A | CA462658123 | TRPS1 | c.3768C>T (p.Phe1256=) c.3729C>T (p.Phe1243=) c.2991C>T (p.Phe997=) c.3741C>T (p.Phe1247=) c.3747C>T (p.Phe1249=) | COSMIC COSMIC |
8 | g.115414140G>C | CA372062021 | TRPS1 | c.3768C>G (p.Phe1256Leu) c.3729C>G (p.Phe1243Leu) c.2991C>G (p.Phe997Leu) c.3741C>G (p.Phe1247Leu) c.3747C>G (p.Phe1249Leu) | |
8 | g.115414140G>T | CA372062022 | TRPS1 | c.3768C>A (p.Phe1256Leu) c.3729C>A (p.Phe1243Leu) c.2991C>A (p.Phe997Leu) c.3741C>A (p.Phe1247Leu) c.3747C>A (p.Phe1249Leu) | |
8 | g.115414141A>C | CA372062023 | TRPS1 | c.3767T>G (p.Phe1256Cys) c.3728T>G (p.Phe1243Cys) c.2990T>G (p.Phe997Cys) c.3740T>G (p.Phe1247Cys) c.3746T>G (p.Phe1249Cys) | |
8 | g.115414141A>G | CA372062024 | TRPS1 | c.3767T>C (p.Phe1256Ser) c.3728T>C (p.Phe1243Ser) c.2990T>C (p.Phe997Ser) c.3740T>C (p.Phe1247Ser) c.3746T>C (p.Phe1249Ser) | |
8 | g.115414141A>T | CA372062025 | TRPS1 | c.3767T>A (p.Phe1256Tyr) c.3728T>A (p.Phe1243Tyr) c.2990T>A (p.Phe997Tyr) c.3740T>A (p.Phe1247Tyr) c.3746T>A (p.Phe1249Tyr) | |
8 | g.115414142A>C | CA372062026 | TRPS1 | c.3766T>G (p.Phe1256Val) c.3727T>G (p.Phe1243Val) c.2989T>G (p.Phe997Val) c.3739T>G (p.Phe1247Val) c.3745T>G (p.Phe1249Val) | |
8 | g.115414142A>G | CA372062027 | TRPS1 | c.3766T>C (p.Phe1256Leu) c.3727T>C (p.Phe1243Leu) c.2989T>C (p.Phe997Leu) c.3739T>C (p.Phe1247Leu) c.3745T>C (p.Phe1249Leu) | |
8 | g.115414142A>T | CA372062028 | TRPS1 | c.3766T>A (p.Phe1256Ile) c.3727T>A (p.Phe1243Ile) c.2989T>A (p.Phe997Ile) c.3739T>A (p.Phe1247Ile) c.3745T>A (p.Phe1249Ile) | |
8 | g.115414143A>C | CA462658124 | TRPS1 | c.3765T>G (p.Pro1255=) c.3726T>G (p.Pro1242=) c.2988T>G (p.Pro996=) c.3738T>G (p.Pro1246=) c.3744T>G (p.Pro1248=) | |
8 | g.115414143A>G | CA462658125 | TRPS1 | c.3765T>C (p.Pro1255=) c.3726T>C (p.Pro1242=) c.2988T>C (p.Pro996=) c.3738T>C (p.Pro1246=) c.3744T>C (p.Pro1248=) | gnomAD v4 |
8 | g.115414143A>T | CA462658126 | TRPS1 | c.3765T>A (p.Pro1255=) c.3726T>A (p.Pro1242=) c.2988T>A (p.Pro996=) c.3738T>A (p.Pro1246=) c.3744T>A (p.Pro1248=) | |
8 | g.115414144G>A | CA372062031 | TRPS1 | c.3764C>T (p.Pro1255Leu) c.3725C>T (p.Pro1242Leu) c.2987C>T (p.Pro996Leu) c.3737C>T (p.Pro1246Leu) c.3743C>T (p.Pro1248Leu) | |
8 | g.115414144G>C | CA372062030 | TRPS1 | c.3764C>G (p.Pro1255Arg) c.3725C>G (p.Pro1242Arg) c.2987C>G (p.Pro996Arg) c.3737C>G (p.Pro1246Arg) c.3743C>G (p.Pro1248Arg) | |
8 | g.115414144G>T | CA372062029 | TRPS1 | c.3764C>A (p.Pro1255His) c.3725C>A (p.Pro1242His) c.2987C>A (p.Pro996His) c.3737C>A (p.Pro1246His) c.3743C>A (p.Pro1248His) | |
8 | g.115414145G>A | CA372062032 | TRPS1 | c.3763C>T (p.Pro1255Ser) c.3724C>T (p.Pro1242Ser) c.2986C>T (p.Pro996Ser) c.3736C>T (p.Pro1246Ser) c.3742C>T (p.Pro1248Ser) | dbSNP gnomAD v4 COSMIC COSMIC |
8 | g.115414145G>C | CA372062033 | TRPS1 | c.3763C>G (p.Pro1255Ala) c.3724C>G (p.Pro1242Ala) c.2986C>G (p.Pro996Ala) c.3736C>G (p.Pro1246Ala) c.3742C>G (p.Pro1248Ala) | |
8 | g.115414145G= | CA1812853669 | TRPS1 | c.3763C= (p.Pro1255=) c.3724C= (p.Pro1242=) c.2986C= (p.Pro996=) c.3736C= (p.Pro1246=) c.3742C= (p.Pro1248=) | |
8 | g.115414145G>T | CA372062034 | TRPS1 | c.3763C>A (p.Pro1255Thr) c.3724C>A (p.Pro1242Thr) c.2986C>A (p.Pro996Thr) c.3736C>A (p.Pro1246Thr) c.3742C>A (p.Pro1248Thr) | |
8 | g.115414146T>A | CA462658127 | TRPS1 | c.3762A>T (p.Gly1254=) c.3723A>T (p.Gly1241=) c.2985A>T (p.Gly995=) c.3735A>T (p.Gly1245=) c.3741A>T (p.Gly1247=) | |
8 | g.115414146T>C | CA462658128 | TRPS1 | c.3762A>G (p.Gly1254=) c.3723A>G (p.Gly1241=) c.2985A>G (p.Gly995=) c.3735A>G (p.Gly1245=) c.3741A>G (p.Gly1247=) | |
8 | g.115414146T>G | CA462658129 | TRPS1 | c.3762A>C (p.Gly1254=) c.3723A>C (p.Gly1241=) c.2985A>C (p.Gly995=) c.3735A>C (p.Gly1245=) c.3741A>C (p.Gly1247=) | dbSNP |
8 | g.115414147C>A | CA372062035 | TRPS1 | c.3761G>T (p.Gly1254Val) c.3722G>T (p.Gly1241Val) c.2984G>T (p.Gly995Val) c.3734G>T (p.Gly1245Val) c.3740G>T (p.Gly1247Val) | |
8 | g.115414147C>G | CA372062036 | TRPS1 | c.3761G>C (p.Gly1254Ala) c.3722G>C (p.Gly1241Ala) c.2984G>C (p.Gly995Ala) c.3734G>C (p.Gly1245Ala) c.3740G>C (p.Gly1247Ala) | gnomAD v4 |
8 | g.115414147C>T | CA372062037 | TRPS1 | c.3761G>A (p.Gly1254Glu) c.3722G>A (p.Gly1241Glu) c.2984G>A (p.Gly995Glu) c.3734G>A (p.Gly1245Glu) c.3740G>A (p.Gly1247Glu) | gnomAD v4 |
8 | g.115414148C>A | CA372062038 | TRPS1 | c.3760G>T (p.Gly1254Ter) c.3721G>T (p.Gly1241Ter) c.2983G>T (p.Gly995Ter) c.3733G>T (p.Gly1245Ter) c.3739G>T (p.Gly1247Ter) | |
8 | g.115414148C= | CA1812853672 | TRPS1 | c.3760G= (p.Gly1254=) c.3721G= (p.Gly1241=) c.2983G= (p.Gly995=) c.3733G= (p.Gly1245=) c.3739G= (p.Gly1247=) | |
8 | g.115414148C>G | CA372062039 | TRPS1 | c.3760G>C (p.Gly1254Arg) c.3721G>C (p.Gly1241Arg) c.2983G>C (p.Gly995Arg) c.3733G>C (p.Gly1245Arg) c.3739G>C (p.Gly1247Arg) | |
8 | g.115414148C>T | CA372062040 | TRPS1 | c.3760G>A (p.Gly1254Arg) c.3721G>A (p.Gly1241Arg) c.2983G>A (p.Gly995Arg) c.3733G>A (p.Gly1245Arg) c.3739G>A (p.Gly1247Arg) | dbSNP |
8 | g.115414149A>C | CA372062041 | TRPS1 | c.3759T>G (p.Ser1253Arg) c.3720T>G (p.Ser1240Arg) c.2982T>G (p.Ser994Arg) c.3732T>G (p.Ser1244Arg) c.3738T>G (p.Ser1246Arg) | |
8 | g.115414149A>G | CA462658130 | TRPS1 | c.3759T>C (p.Ser1253=) c.3720T>C (p.Ser1240=) c.2982T>C (p.Ser994=) c.3732T>C (p.Ser1244=) c.3738T>C (p.Ser1246=) | |
8 | g.115414149A>T | CA372062042 | TRPS1 | c.3759T>A (p.Ser1253Arg) c.3720T>A (p.Ser1240Arg) c.2982T>A (p.Ser994Arg) c.3732T>A (p.Ser1244Arg) c.3738T>A (p.Ser1246Arg) | |
8 | g.115414150C>A | CA372062043 | TRPS1 | c.3758G>T (p.Ser1253Ile) c.3719G>T (p.Ser1240Ile) c.2981G>T (p.Ser994Ile) c.3731G>T (p.Ser1244Ile) c.3737G>T (p.Ser1246Ile) | |
8 | g.115414150C= | CA1812853674 | TRPS1 | c.3758G= (p.Ser1253=) c.3719G= (p.Ser1240=) c.2981G= (p.Ser994=) c.3731G= (p.Ser1244=) c.3737G= (p.Ser1246=) | |
8 | g.115414150C>G | CA372062044 | TRPS1 | c.3758G>C (p.Ser1253Thr) c.3719G>C (p.Ser1240Thr) c.2981G>C (p.Ser994Thr) c.3731G>C (p.Ser1244Thr) c.3737G>C (p.Ser1246Thr) | |
8 | g.115414150C>T | CA4851450 | TRPS1 | c.3758G>A (p.Ser1253Asn) c.3719G>A (p.Ser1240Asn) c.2981G>A (p.Ser994Asn) c.3731G>A (p.Ser1244Asn) c.3737G>A (p.Ser1246Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.115414151T>A | CA372062046 | TRPS1 | c.3757A>T (p.Ser1253Cys) c.3718A>T (p.Ser1240Cys) c.2980A>T (p.Ser994Cys) c.3730A>T (p.Ser1244Cys) c.3736A>T (p.Ser1246Cys) | |
8 | g.115414151T>C | CA4851451 | TRPS1 | c.3757A>G (p.Ser1253Gly) c.3718A>G (p.Ser1240Gly) c.2980A>G (p.Ser994Gly) c.3730A>G (p.Ser1244Gly) c.3736A>G (p.Ser1246Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.115414151T>G | CA372062045 | TRPS1 | c.3757A>C (p.Ser1253Arg) c.3718A>C (p.Ser1240Arg) c.2980A>C (p.Ser994Arg) c.3730A>C (p.Ser1244Arg) c.3736A>C (p.Ser1246Arg) | |
8 | g.115414151T= | CA1812853676 | TRPS1 | c.3757A= (p.Ser1253=) c.3718A= (p.Ser1240=) c.2980A= (p.Ser994=) c.3730A= (p.Ser1244=) c.3736A= (p.Ser1246=) | |
8 | g.115414152G>A | CA462658131 | TRPS1 | c.3756C>T (p.Asp1252=) c.3717C>T (p.Asp1239=) c.2979C>T (p.Asp993=) c.3729C>T (p.Asp1243=) c.3735C>T (p.Asp1245=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.115414152G>C | CA372062047 | TRPS1 | c.3756C>G (p.Asp1252Glu) c.3717C>G (p.Asp1239Glu) c.2979C>G (p.Asp993Glu) c.3729C>G (p.Asp1243Glu) c.3735C>G (p.Asp1245Glu) | |
8 | g.115414152G= | CA1812853678 | TRPS1 | c.3756C= (p.Asp1252=) c.3717C= (p.Asp1239=) c.2979C= (p.Asp993=) c.3729C= (p.Asp1243=) c.3735C= (p.Asp1245=) | |
8 | g.115414152G>T | CA372062048 | TRPS1 | c.3756C>A (p.Asp1252Glu) c.3717C>A (p.Asp1239Glu) c.2979C>A (p.Asp993Glu) c.3729C>A (p.Asp1243Glu) c.3735C>A (p.Asp1245Glu) | |
8 | g.115414153T>A | CA372062049 | TRPS1 | c.3755A>T (p.Asp1252Val) c.3716A>T (p.Asp1239Val) c.2978A>T (p.Asp993Val) c.3728A>T (p.Asp1243Val) c.3734A>T (p.Asp1245Val) | |
8 | g.115414153T>C | CA372062050 | TRPS1 | c.3755A>G (p.Asp1252Gly) c.3716A>G (p.Asp1239Gly) c.2978A>G (p.Asp993Gly) c.3728A>G (p.Asp1243Gly) c.3734A>G (p.Asp1245Gly) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.115414153T>G | CA372062051 | TRPS1 | c.3755A>C (p.Asp1252Ala) c.3716A>C (p.Asp1239Ala) c.2978A>C (p.Asp993Ala) c.3728A>C (p.Asp1243Ala) c.3734A>C (p.Asp1245Ala) | |
8 | g.115414153T= | CA1812853681 | TRPS1 | c.3755A= (p.Asp1252=) c.3716A= (p.Asp1239=) c.2978A= (p.Asp993=) c.3728A= (p.Asp1243=) c.3734A= (p.Asp1245=) | |
8 | g.115414154C>A | CA372062052 | TRPS1 | c.3754G>T (p.Asp1252Tyr) c.3715G>T (p.Asp1239Tyr) c.2977G>T (p.Asp993Tyr) c.3727G>T (p.Asp1243Tyr) c.3733G>T (p.Asp1245Tyr) | |
8 | g.115414154C>G | CA372062053 | TRPS1 | c.3754G>C (p.Asp1252His) c.3715G>C (p.Asp1239His) c.2977G>C (p.Asp993His) c.3727G>C (p.Asp1243His) c.3733G>C (p.Asp1245His) | |
8 | g.115414154C>T | CA372062054 | TRPS1 | c.3754G>A (p.Asp1252Asn) c.3715G>A (p.Asp1239Asn) c.2977G>A (p.Asp993Asn) c.3727G>A (p.Asp1243Asn) c.3733G>A (p.Asp1245Asn) | |
8 | g.115414155A>C | CA462658133 | TRPS1 | c.3753T>G (p.Gly1251=) c.3714T>G (p.Gly1238=) c.2976T>G (p.Gly992=) c.3726T>G (p.Gly1242=) c.3732T>G (p.Gly1244=) | |
8 | g.115414155A>G | CA462658134 | TRPS1 | c.3753T>C (p.Gly1251=) c.3714T>C (p.Gly1238=) c.2976T>C (p.Gly992=) c.3726T>C (p.Gly1242=) c.3732T>C (p.Gly1244=) | |
8 | g.115414155A>T | CA462658132 | TRPS1 | c.3753T>A (p.Gly1251=) c.3714T>A (p.Gly1238=) c.2976T>A (p.Gly992=) c.3726T>A (p.Gly1242=) c.3732T>A (p.Gly1244=) | |
8 | g.115414156C>A | CA372062055 | TRPS1 | c.3752G>T (p.Gly1251Val) c.3713G>T (p.Gly1238Val) c.2975G>T (p.Gly992Val) c.3725G>T (p.Gly1242Val) c.3731G>T (p.Gly1244Val) | |
8 | g.115414156C>G | CA372062056 | TRPS1 | c.3752G>C (p.Gly1251Ala) c.3713G>C (p.Gly1238Ala) c.2975G>C (p.Gly992Ala) c.3725G>C (p.Gly1242Ala) c.3731G>C (p.Gly1244Ala) | |
8 | g.115414156C>T | CA372062057 | TRPS1 | c.3752G>A (p.Gly1251Asp) c.3713G>A (p.Gly1238Asp) c.2975G>A (p.Gly992Asp) c.3725G>A (p.Gly1242Asp) c.3731G>A (p.Gly1244Asp) | |
8 | g.115414157C>A | CA372062058 | TRPS1 | c.3751G>T (p.Gly1251Cys) c.3712G>T (p.Gly1238Cys) c.2974G>T (p.Gly992Cys) c.3724G>T (p.Gly1242Cys) c.3730G>T (p.Gly1244Cys) | |
8 | g.115414157C= | CA1812853686 | TRPS1 | c.3751G= (p.Gly1251=) c.3712G= (p.Gly1238=) c.2974G= (p.Gly992=) c.3724G= (p.Gly1242=) c.3730G= (p.Gly1244=) | |
8 | g.115414157C>G | CA372062059 | TRPS1 | c.3751G>C (p.Gly1251Arg) c.3712G>C (p.Gly1238Arg) c.2974G>C (p.Gly992Arg) c.3724G>C (p.Gly1242Arg) c.3730G>C (p.Gly1244Arg) | |
8 | g.115414157C>T | CA372062060 | TRPS1 | c.3751G>A (p.Gly1251Ser) c.3712G>A (p.Gly1238Ser) c.2974G>A (p.Gly992Ser) c.3724G>A (p.Gly1242Ser) c.3730G>A (p.Gly1244Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.115414158A= | CA1812853690 | TRPS1 | c.3750T= (p.His1250=) c.3711T= (p.His1237=) c.2973T= (p.His991=) c.3723T= (p.His1241=) c.3729T= (p.His1243=) | |
8 | g.115414158A>C | CA372062061 | TRPS1 | c.3750T>G (p.His1250Gln) c.3711T>G (p.His1237Gln) c.2973T>G (p.His991Gln) c.3723T>G (p.His1241Gln) c.3729T>G (p.His1243Gln) | |
8 | g.115414158A>G | CA462658135 | TRPS1 | c.3750T>C (p.His1250=) c.3711T>C (p.His1237=) c.2973T>C (p.His991=) c.3723T>C (p.His1241=) c.3729T>C (p.His1243=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.115414158A>T | CA372062062 | TRPS1 | c.3750T>A (p.His1250Gln) c.3711T>A (p.His1237Gln) c.2973T>A (p.His991Gln) c.3723T>A (p.His1241Gln) c.3729T>A (p.His1243Gln) | |
8 | g.115414159T>A | CA372062063 | TRPS1 | c.3749A>T (p.His1250Leu) c.3710A>T (p.His1237Leu) c.2972A>T (p.His991Leu) c.3722A>T (p.His1241Leu) c.3728A>T (p.His1243Leu) | |
8 | g.115414159T>C | CA372062064 | TRPS1 | c.3749A>G (p.His1250Arg) c.3710A>G (p.His1237Arg) c.2972A>G (p.His991Arg) c.3722A>G (p.His1241Arg) c.3728A>G (p.His1243Arg) | ClinVar |
8 | g.115414159T>G | CA372062065 | TRPS1 | c.3749A>C (p.His1250Pro) c.3710A>C (p.His1237Pro) c.2972A>C (p.His991Pro) c.3722A>C (p.His1241Pro) c.3728A>C (p.His1243Pro) | ClinVar dbSNP |
8 | g.115414160G>A | CA372062066 | TRPS1 | c.3748C>T (p.His1250Tyr) c.3709C>T (p.His1237Tyr) c.2971C>T (p.His991Tyr) c.3721C>T (p.His1241Tyr) c.3727C>T (p.His1243Tyr) | |
8 | g.115414160G>C | CA372062067 | TRPS1 | c.3748C>G (p.His1250Asp) c.3709C>G (p.His1237Asp) c.2971C>G (p.His991Asp) c.3721C>G (p.His1241Asp) c.3727C>G (p.His1243Asp) | |
8 | g.115414160G>T | CA372062068 | TRPS1 | c.3748C>A (p.His1250Asn) c.3709C>A (p.His1237Asn) c.2971C>A (p.His991Asn) c.3721C>A (p.His1241Asn) c.3727C>A (p.His1243Asn) | |
8 | g.115414161G>A | CA462658136 | TRPS1 | c.3747C>T (p.Cys1249=) c.3708C>T (p.Cys1236=) c.2970C>T (p.Cys990=) c.3720C>T (p.Cys1240=) c.3726C>T (p.Cys1242=) | |
8 | g.115414161G>C | CA372062069 | TRPS1 | c.3747C>G (p.Cys1249Trp) c.3708C>G (p.Cys1236Trp) c.2970C>G (p.Cys990Trp) c.3720C>G (p.Cys1240Trp) c.3726C>G (p.Cys1242Trp) | |
8 | g.115414161G>T | CA372062070 | TRPS1 | c.3747C>A (p.Cys1249Ter) c.3708C>A (p.Cys1236Ter) c.2970C>A (p.Cys990Ter) c.3720C>A (p.Cys1240Ter) c.3726C>A (p.Cys1242Ter) | |
8 | g.115414162C>A | CA372062071 | TRPS1 | c.3746G>T (p.Cys1249Phe) c.3707G>T (p.Cys1236Phe) c.2969G>T (p.Cys990Phe) c.3719G>T (p.Cys1240Phe) c.3725G>T (p.Cys1242Phe) | |
8 | g.115414162C>G | CA372062072 | TRPS1 | c.3746G>C (p.Cys1249Ser) c.3707G>C (p.Cys1236Ser) c.2969G>C (p.Cys990Ser) c.3719G>C (p.Cys1240Ser) c.3725G>C (p.Cys1242Ser) | |
8 | g.115414162C>T | CA372062073 | TRPS1 | c.3746G>A (p.Cys1249Tyr) c.3707G>A (p.Cys1236Tyr) c.2969G>A (p.Cys990Tyr) c.3719G>A (p.Cys1240Tyr) c.3725G>A (p.Cys1242Tyr) | |
8 | g.115414163A= | CA1812853693 | TRPS1 | c.3745T= (p.Cys1249=) c.3706T= (p.Cys1236=) c.2968T= (p.Cys990=) c.3718T= (p.Cys1240=) c.3724T= (p.Cys1242=) | |
8 | g.115414163A>C | CA372062074 | TRPS1 | c.3745T>G (p.Cys1249Gly) c.3706T>G (p.Cys1236Gly) c.2968T>G (p.Cys990Gly) c.3718T>G (p.Cys1240Gly) c.3724T>G (p.Cys1242Gly) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.115414163A>G | CA372062076 | TRPS1 | c.3745T>C (p.Cys1249Arg) c.3706T>C (p.Cys1236Arg) c.2968T>C (p.Cys990Arg) c.3718T>C (p.Cys1240Arg) c.3724T>C (p.Cys1242Arg) | |
8 | g.115414163A>T | CA372062075 | TRPS1 | c.3745T>A (p.Cys1249Ser) c.3706T>A (p.Cys1236Ser) c.2968T>A (p.Cys990Ser) c.3718T>A (p.Cys1240Ser) c.3724T>A (p.Cys1242Ser) | |
8 | g.115414164A>C | CA372062077 | TRPS1 | c.3744T>G (p.Ser1248Arg) c.3705T>G (p.Ser1235Arg) c.2967T>G (p.Ser989Arg) c.3717T>G (p.Ser1239Arg) c.3723T>G (p.Ser1241Arg) | |
8 | g.115414164A>G | CA462658137 | TRPS1 | c.3744T>C (p.Ser1248=) c.3705T>C (p.Ser1235=) c.2967T>C (p.Ser989=) c.3717T>C (p.Ser1239=) c.3723T>C (p.Ser1241=) | |
8 | g.115414164A>T | CA372062078 | TRPS1 | c.3744T>A (p.Ser1248Arg) c.3705T>A (p.Ser1235Arg) c.2967T>A (p.Ser989Arg) c.3717T>A (p.Ser1239Arg) c.3723T>A (p.Ser1241Arg) | |
8 | g.115414165C>A | CA372062079 | TRPS1 | c.3743G>T (p.Ser1248Ile) c.3704G>T (p.Ser1235Ile) c.2966G>T (p.Ser989Ile) c.3716G>T (p.Ser1239Ile) c.3722G>T (p.Ser1241Ile) | |
8 | g.115414165C>G | CA372062080 | TRPS1 | c.3743G>C (p.Ser1248Thr) c.3704G>C (p.Ser1235Thr) c.2966G>C (p.Ser989Thr) c.3716G>C (p.Ser1239Thr) c.3722G>C (p.Ser1241Thr) | |
8 | g.115414165C>T | CA372062081 | TRPS1 | c.3743G>A (p.Ser1248Asn) c.3704G>A (p.Ser1235Asn) c.2966G>A (p.Ser989Asn) c.3716G>A (p.Ser1239Asn) c.3722G>A (p.Ser1241Asn) | |
8 | g.115414166T>A | CA372062082 | TRPS1 | c.3742A>T (p.Ser1248Cys) c.3703A>T (p.Ser1235Cys) c.2965A>T (p.Ser989Cys) c.3715A>T (p.Ser1239Cys) c.3721A>T (p.Ser1241Cys) | |
8 | g.115414166T>C | CA372062083 | TRPS1 | c.3742A>G (p.Ser1248Gly) c.3703A>G (p.Ser1235Gly) c.2965A>G (p.Ser989Gly) c.3715A>G (p.Ser1239Gly) c.3721A>G (p.Ser1241Gly) | |
8 | g.115414166T>G | CA372062084 | TRPS1 | c.3742A>C (p.Ser1248Arg) c.3703A>C (p.Ser1235Arg) c.2965A>C (p.Ser989Arg) c.3715A>C (p.Ser1239Arg) c.3721A>C (p.Ser1241Arg) | |
8 | g.115414167C>A | CA372062085 | TRPS1 | c.3741G>T (p.Met1247Ile) c.3702G>T (p.Met1234Ile) c.2964G>T (p.Met988Ile) c.3714G>T (p.Met1238Ile) c.3720G>T (p.Met1240Ile) | |
8 | g.115414167C>G | CA372062086 | TRPS1 | c.3741G>C (p.Met1247Ile) c.3702G>C (p.Met1234Ile) c.2964G>C (p.Met988Ile) c.3714G>C (p.Met1238Ile) c.3720G>C (p.Met1240Ile) | gnomAD v4 |
8 | g.115414167C>T | CA372062087 | TRPS1 | c.3741G>A (p.Met1247Ile) c.3702G>A (p.Met1234Ile) c.2964G>A (p.Met988Ile) c.3714G>A (p.Met1238Ile) c.3720G>A (p.Met1240Ile) | |
8 | g.115414168A= | CA1812853696 | TRPS1 | c.3740T= (p.Met1247=) c.3701T= (p.Met1234=) c.2963T= (p.Met988=) c.3713T= (p.Met1238=) c.3719T= (p.Met1240=) | |
8 | g.115414168A>C | CA372062088 | TRPS1 | c.3740T>G (p.Met1247Arg) c.3701T>G (p.Met1234Arg) c.2963T>G (p.Met988Arg) c.3713T>G (p.Met1238Arg) c.3719T>G (p.Met1240Arg) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.115414168A>G | CA372062089 | TRPS1 | c.3740T>C (p.Met1247Thr) c.3701T>C (p.Met1234Thr) c.2963T>C (p.Met988Thr) c.3713T>C (p.Met1238Thr) c.3719T>C (p.Met1240Thr) | |
8 | g.115414168A>T | CA372062090 | TRPS1 | c.3740T>A (p.Met1247Lys) c.3701T>A (p.Met1234Lys) c.2963T>A (p.Met988Lys) c.3713T>A (p.Met1238Lys) c.3719T>A (p.Met1240Lys) | |
8 | g.115414169T>A | CA372062091 | TRPS1 | c.3739A>T (p.Met1247Leu) c.3700A>T (p.Met1234Leu) c.2962A>T (p.Met988Leu) c.3712A>T (p.Met1238Leu) c.3718A>T (p.Met1240Leu) | |
8 | g.115414169T>C | CA372062093 | TRPS1 | c.3739A>G (p.Met1247Val) c.3700A>G (p.Met1234Val) c.2962A>G (p.Met988Val) c.3712A>G (p.Met1238Val) c.3718A>G (p.Met1240Val) | |
8 | g.115414169T>G | CA372062092 | TRPS1 | c.3739A>C (p.Met1247Leu) c.3700A>C (p.Met1234Leu) c.2962A>C (p.Met988Leu) c.3712A>C (p.Met1238Leu) c.3718A>C (p.Met1240Leu) | |
8 | g.115414170A>C | CA372062094 | TRPS1 | c.3738T>G (p.His1246Gln) c.3699T>G (p.His1233Gln) c.2961T>G (p.His987Gln) c.3711T>G (p.His1237Gln) c.3717T>G (p.His1239Gln) | |
8 | g.115414170A>G | CA462658138 | TRPS1 | c.3738T>C (p.His1246=) c.3699T>C (p.His1233=) c.2961T>C (p.His987=) c.3711T>C (p.His1237=) c.3717T>C (p.His1239=) | |
8 | g.115414170A>T | CA372062095 | TRPS1 | c.3738T>A (p.His1246Gln) c.3699T>A (p.His1233Gln) c.2961T>A (p.His987Gln) c.3711T>A (p.His1237Gln) c.3717T>A (p.His1239Gln) | |
8 | g.115414171T>A | CA372062096 | TRPS1 | c.3737A>T (p.His1246Leu) c.3698A>T (p.His1233Leu) c.2960A>T (p.His987Leu) c.3710A>T (p.His1237Leu) c.3716A>T (p.His1239Leu) | ClinVar |
8 | g.115414171T>C | CA372062097 | TRPS1 | c.3737A>G (p.His1246Arg) c.3698A>G (p.His1233Arg) c.2960A>G (p.His987Arg) c.3710A>G (p.His1237Arg) c.3716A>G (p.His1239Arg) | |
8 | g.115414171T>G | CA372062098 | TRPS1 | c.3737A>C (p.His1246Pro) c.3698A>C (p.His1233Pro) c.2960A>C (p.His987Pro) c.3710A>C (p.His1237Pro) c.3716A>C (p.His1239Pro) | |
8 | g.115414172G>A | CA372062099 | TRPS1 | c.3736C>T (p.His1246Tyr) c.3697C>T (p.His1233Tyr) c.2959C>T (p.His987Tyr) c.3709C>T (p.His1237Tyr) c.3715C>T (p.His1239Tyr) | ClinVar dbSNP |
8 | g.115414172G>C | CA372062100 | TRPS1 | c.3736C>G (p.His1246Asp) c.3697C>G (p.His1233Asp) c.2959C>G (p.His987Asp) c.3709C>G (p.His1237Asp) c.3715C>G (p.His1239Asp) | |
8 | g.115414172G= | CA1812853698 | TRPS1 | c.3736C= (p.His1246=) c.3697C= (p.His1233=) c.2959C= (p.His987=) c.3709C= (p.His1237=) c.3715C= (p.His1239=) | |
8 | g.115414172G>T | CA372062101 | TRPS1 | c.3736C>A (p.His1246Asn) c.3697C>A (p.His1233Asn) c.2959C>A (p.His987Asn) c.3709C>A (p.His1237Asn) c.3715C>A (p.His1239Asn) | |
8 | g.115414173C>A | CA372062102 | TRPS1 | c.3735G>T (p.Leu1245Phe) c.3696G>T (p.Leu1232Phe) c.2958G>T (p.Leu986Phe) c.3708G>T (p.Leu1236Phe) c.3714G>T (p.Leu1238Phe) | |
8 | g.115414173C= | CA1812853699 | TRPS1 | c.3735G= (p.Leu1245=) c.3696G= (p.Leu1232=) c.2958G= (p.Leu986=) c.3708G= (p.Leu1236=) c.3714G= (p.Leu1238=) | |
8 | g.115414173C>G | CA372062103 | TRPS1 | c.3735G>C (p.Leu1245Phe) c.3696G>C (p.Leu1232Phe) c.2958G>C (p.Leu986Phe) c.3708G>C (p.Leu1236Phe) c.3714G>C (p.Leu1238Phe) | |
8 | g.115414173C>T | CA462658139 | TRPS1 | c.3735G>A (p.Leu1245=) c.3696G>A (p.Leu1232=) c.2958G>A (p.Leu986=) c.3708G>A (p.Leu1236=) c.3714G>A (p.Leu1238=) | dbSNP gnomAD v4 |
8 | g.115414174A>C | CA372062105 | TRPS1 | c.3734T>G (p.Leu1245Trp) c.3695T>G (p.Leu1232Trp) c.2957T>G (p.Leu986Trp) c.3707T>G (p.Leu1236Trp) c.3713T>G (p.Leu1238Trp) | |
8 | g.115414174A>G | CA372062106 | TRPS1 | c.3734T>C (p.Leu1245Ser) c.3695T>C (p.Leu1232Ser) c.2957T>C (p.Leu986Ser) c.3707T>C (p.Leu1236Ser) c.3713T>C (p.Leu1238Ser) | |
8 | g.115414174A>T | CA372062104 | TRPS1 | c.3734T>A (p.Leu1245Ter) c.3695T>A (p.Leu1232Ter) c.2957T>A (p.Leu986Ter) c.3707T>A (p.Leu1236Ter) c.3713T>A (p.Leu1238Ter) | |
8 | g.115414175A>C | CA372062107 | TRPS1 | c.3733T>G (p.Leu1245Val) c.3694T>G (p.Leu1232Val) c.2956T>G (p.Leu986Val) c.3706T>G (p.Leu1236Val) c.3712T>G (p.Leu1238Val) | |
8 | g.115414175A>G | CA462658140 | TRPS1 | c.3733T>C (p.Leu1245=) c.3694T>C (p.Leu1232=) c.2956T>C (p.Leu986=) c.3706T>C (p.Leu1236=) c.3712T>C (p.Leu1238=) | |
8 | g.115414175A>T | CA372062108 | TRPS1 | c.3733T>A (p.Leu1245Met) c.3694T>A (p.Leu1232Met) c.2956T>A (p.Leu986Met) c.3706T>A (p.Leu1236Met) c.3712T>A (p.Leu1238Met) | |
8 | g.115414176A>C | CA462658141 | TRPS1 | c.3732T>G (p.Ala1244=) c.3693T>G (p.Ala1231=) c.2955T>G (p.Ala985=) c.3705T>G (p.Ala1235=) c.3711T>G (p.Ala1237=) | |
8 | g.115414176A>G | CA462658142 | TRPS1 | c.3732T>C (p.Ala1244=) c.3693T>C (p.Ala1231=) c.2955T>C (p.Ala985=) c.3705T>C (p.Ala1235=) c.3711T>C (p.Ala1237=) | COSMIC COSMIC |
8 | g.115414176A>T | CA462658143 | TRPS1 | c.3732T>A (p.Ala1244=) c.3693T>A (p.Ala1231=) c.2955T>A (p.Ala985=) c.3705T>A (p.Ala1235=) c.3711T>A (p.Ala1237=) | |
8 | g.115414177G>A | CA372062109 | TRPS1 | c.3731C>T (p.Ala1244Val) c.3692C>T (p.Ala1231Val) c.2954C>T (p.Ala985Val) c.3704C>T (p.Ala1235Val) c.3710C>T (p.Ala1237Val) | |
8 | g.115414177G>C | CA372062110 | TRPS1 | c.3731C>G (p.Ala1244Gly) c.3692C>G (p.Ala1231Gly) c.2954C>G (p.Ala985Gly) c.3704C>G (p.Ala1235Gly) c.3710C>G (p.Ala1237Gly) | |
8 | g.115414177G>T | CA372062111 | TRPS1 | c.3731C>A (p.Ala1244Asp) c.3692C>A (p.Ala1231Asp) c.2954C>A (p.Ala985Asp) c.3704C>A (p.Ala1235Asp) c.3710C>A (p.Ala1237Asp) | |
8 | g.115414178C>A | CA372062114 | TRPS1 | c.3730G>T (p.Ala1244Ser) c.3691G>T (p.Ala1231Ser) c.2953G>T (p.Ala985Ser) c.3703G>T (p.Ala1235Ser) c.3709G>T (p.Ala1237Ser) | |
8 | g.115414178C>G | CA372062112 | TRPS1 | c.3730G>C (p.Ala1244Pro) c.3691G>C (p.Ala1231Pro) c.2953G>C (p.Ala985Pro) c.3703G>C (p.Ala1235Pro) c.3709G>C (p.Ala1237Pro) | |
8 | g.115414178C>T | CA372062113 | TRPS1 | c.3730G>A (p.Ala1244Thr) c.3691G>A (p.Ala1231Thr) c.2953G>A (p.Ala985Thr) c.3703G>A (p.Ala1235Thr) c.3709G>A (p.Ala1237Thr) | gnomAD v4 |
8 | g.115414179A>C | CA372062115 | TRPS1 | c.3729T>G (p.Tyr1243Ter) c.3690T>G (p.Tyr1230Ter) c.2952T>G (p.Tyr984Ter) c.3702T>G (p.Tyr1234Ter) c.3708T>G (p.Tyr1236Ter) | |
8 | g.115414179A>G | CA462658144 | TRPS1 | c.3729T>C (p.Tyr1243=) c.3690T>C (p.Tyr1230=) c.2952T>C (p.Tyr984=) c.3702T>C (p.Tyr1234=) c.3708T>C (p.Tyr1236=) | |
8 | g.115414179A>T | CA372062116 | TRPS1 | c.3729T>A (p.Tyr1243Ter) c.3690T>A (p.Tyr1230Ter) c.2952T>A (p.Tyr984Ter) c.3702T>A (p.Tyr1234Ter) c.3708T>A (p.Tyr1236Ter) | |
8 | g.115414180T>A | CA372062117 | TRPS1 | c.3728A>T (p.Tyr1243Phe) c.3689A>T (p.Tyr1230Phe) c.2951A>T (p.Tyr984Phe) c.3701A>T (p.Tyr1234Phe) c.3707A>T (p.Tyr1236Phe) | dbSNP gnomAD v4 |
8 | g.115414180T>C | CA372062118 | TRPS1 | c.3728A>G (p.Tyr1243Cys) c.3689A>G (p.Tyr1230Cys) c.2951A>G (p.Tyr984Cys) c.3701A>G (p.Tyr1234Cys) c.3707A>G (p.Tyr1236Cys) | dbSNP gnomAD v4 |
8 | g.115414180T>G | CA372062119 | TRPS1 | c.3728A>C (p.Tyr1243Ser) c.3689A>C (p.Tyr1230Ser) c.2951A>C (p.Tyr984Ser) c.3701A>C (p.Tyr1234Ser) c.3707A>C (p.Tyr1236Ser) | |
8 | g.115414180T= | CA1812853700 | TRPS1 | c.3728A= (p.Tyr1243=) c.3689A= (p.Tyr1230=) c.2951A= (p.Tyr984=) c.3701A= (p.Tyr1234=) c.3707A= (p.Tyr1236=) | |
8 | g.115414181A>C | CA372062120 | TRPS1 | c.3727T>G (p.Tyr1243Asp) c.3688T>G (p.Tyr1230Asp) c.2950T>G (p.Tyr984Asp) c.3700T>G (p.Tyr1234Asp) c.3706T>G (p.Tyr1236Asp) | |
8 | g.115414181A>G | CA372062122 | TRPS1 | c.3727T>C (p.Tyr1243His) c.3688T>C (p.Tyr1230His) c.2950T>C (p.Tyr984His) c.3700T>C (p.Tyr1234His) c.3706T>C (p.Tyr1236His) | gnomAD v4 |
8 | g.115414181A>T | CA372062121 | TRPS1 | c.3727T>A (p.Tyr1243Asn) c.3688T>A (p.Tyr1230Asn) c.2950T>A (p.Tyr984Asn) c.3700T>A (p.Tyr1234Asn) c.3706T>A (p.Tyr1236Asn) | |
8 | g.115414182C>A | CA372062123 | TRPS1 | c.3726G>T (p.Met1242Ile) c.3687G>T (p.Met1229Ile) c.2949G>T (p.Met983Ile) c.3699G>T (p.Met1233Ile) c.3705G>T (p.Met1235Ile) | |
8 | g.115414182C>G | CA372062124 | TRPS1 | c.3726G>C (p.Met1242Ile) c.3687G>C (p.Met1229Ile) c.2949G>C (p.Met983Ile) c.3699G>C (p.Met1233Ile) c.3705G>C (p.Met1235Ile) | |
8 | g.115414182C>T | CA372062125 | TRPS1 | c.3726G>A (p.Met1242Ile) c.3687G>A (p.Met1229Ile) c.2949G>A (p.Met983Ile) c.3699G>A (p.Met1233Ile) c.3705G>A (p.Met1235Ile) | |
8 | g.115414183A>C | CA372062126 | TRPS1 | c.3725T>G (p.Met1242Arg) c.3686T>G (p.Met1229Arg) c.2948T>G (p.Met983Arg) c.3698T>G (p.Met1233Arg) c.3704T>G (p.Met1235Arg) | |
8 | g.115414183A>G | CA372062127 | TRPS1 | c.3725T>C (p.Met1242Thr) c.3686T>C (p.Met1229Thr) c.2948T>C (p.Met983Thr) c.3698T>C (p.Met1233Thr) c.3704T>C (p.Met1235Thr) | |
8 | g.115414183A>T | CA372062128 | TRPS1 | c.3725T>A (p.Met1242Lys) c.3686T>A (p.Met1229Lys) c.2948T>A (p.Met983Lys) c.3698T>A (p.Met1233Lys) c.3704T>A (p.Met1235Lys) | |
8 | g.115414183dup | CA2740095130 | TRPS1 | c.3725dup (p.Met1242IlefsTer11) c.3686dup (p.Met1229IlefsTer11) c.2948dup (p.Met983IlefsTer11) c.3698dup (p.Met1233IlefsTer11) c.3704dup (p.Met1235IlefsTer11) | ClinVar |
8 | g.115414184T>A | CA4851453 | TRPS1 | c.3724A>T (p.Met1242Leu) c.3685A>T (p.Met1229Leu) c.2947A>T (p.Met983Leu) c.3697A>T (p.Met1233Leu) c.3703A>T (p.Met1235Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.115414184T>C | CA372062129 | TRPS1 | c.3724A>G (p.Met1242Val) c.3685A>G (p.Met1229Val) c.2947A>G (p.Met983Val) c.3697A>G (p.Met1233Val) c.3703A>G (p.Met1235Val) | |
8 | g.115414184T>G | CA4851452 | TRPS1 | c.3724A>C (p.Met1242Leu) c.3685A>C (p.Met1229Leu) c.2947A>C (p.Met983Leu) c.3697A>C (p.Met1233Leu) c.3703A>C (p.Met1235Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.115414184T= | CA1812853701 | TRPS1 | c.3724A= (p.Met1242=) c.3685A= (p.Met1229=) c.2947A= (p.Met983=) c.3697A= (p.Met1233=) c.3703A= (p.Met1235=) | |
8 | g.115414185C>A | CA462658145 | TRPS1 | c.3723G>T (p.Val1241=) c.3684G>T (p.Val1228=) c.2946G>T (p.Val982=) c.3696G>T (p.Val1232=) c.3702G>T (p.Val1234=) | |
8 | g.115414185C>G | CA462658146 | TRPS1 | c.3723G>C (p.Val1241=) c.3684G>C (p.Val1228=) c.2946G>C (p.Val982=) c.3696G>C (p.Val1232=) c.3702G>C (p.Val1234=) | gnomAD v4 |
8 | g.115414185C>T | CA462658147 | TRPS1 | c.3723G>A (p.Val1241=) c.3684G>A (p.Val1228=) c.2946G>A (p.Val982=) c.3696G>A (p.Val1232=) c.3702G>A (p.Val1234=) | gnomAD v4 |
8 | g.115414186A>C | CA372062130 | TRPS1 | c.3722T>G (p.Val1241Gly) c.3683T>G (p.Val1228Gly) c.2945T>G (p.Val982Gly) c.3695T>G (p.Val1232Gly) c.3701T>G (p.Val1234Gly) | |
8 | g.115414186A>G | CA372062131 | TRPS1 | c.3722T>C (p.Val1241Ala) c.3683T>C (p.Val1228Ala) c.2945T>C (p.Val982Ala) c.3695T>C (p.Val1232Ala) c.3701T>C (p.Val1234Ala) | |
8 | g.115414186A>T | CA372062132 | TRPS1 | c.3722T>A (p.Val1241Glu) c.3683T>A (p.Val1228Glu) c.2945T>A (p.Val982Glu) c.3695T>A (p.Val1232Glu) c.3701T>A (p.Val1234Glu) | |
8 | g.115414187C>A | CA372062134 | TRPS1 | c.3721G>T (p.Val1241Leu) c.3682G>T (p.Val1228Leu) c.2944G>T (p.Val982Leu) c.3694G>T (p.Val1232Leu) c.3700G>T (p.Val1234Leu) | |
8 | g.115414187C= | CA1812853702 | TRPS1 | c.3721G= (p.Val1241=) c.3682G= (p.Val1228=) c.2944G= (p.Val982=) c.3694G= (p.Val1232=) c.3700G= (p.Val1234=) | |
8 | g.115414187C>G | CA372062133 | TRPS1 | c.3721G>C (p.Val1241Leu) c.3682G>C (p.Val1228Leu) c.2944G>C (p.Val982Leu) c.3694G>C (p.Val1232Leu) c.3700G>C (p.Val1234Leu) | |
8 | g.115414187C>T | CA184469271 | TRPS1 | c.3721G>A (p.Val1241Met) c.3682G>A (p.Val1228Met) c.2944G>A (p.Val982Met) c.3694G>A (p.Val1232Met) c.3700G>A (p.Val1234Met) | dbSNP |
8 | g.115414188T>A | CA372062136 | TRPS1 | c.3720A>T (p.Glu1240Asp) c.3681A>T (p.Glu1227Asp) c.2943A>T (p.Glu981Asp) c.3693A>T (p.Glu1231Asp) c.3699A>T (p.Glu1233Asp) | |
8 | g.115414188T>C | CA462658148 | TRPS1 | c.3720A>G (p.Glu1240=) c.3681A>G (p.Glu1227=) c.2943A>G (p.Glu981=) c.3693A>G (p.Glu1231=) c.3699A>G (p.Glu1233=) | gnomAD v4 |
8 | g.115414188T>G | CA372062135 | TRPS1 | c.3720A>C (p.Glu1240Asp) c.3681A>C (p.Glu1227Asp) c.2943A>C (p.Glu981Asp) c.3693A>C (p.Glu1231Asp) c.3699A>C (p.Glu1233Asp) | |
8 | g.115414189T>A | CA372062139 | TRPS1 | c.3719A>T (p.Glu1240Val) c.3680A>T (p.Glu1227Val) c.2942A>T (p.Glu981Val) c.3692A>T (p.Glu1231Val) c.3698A>T (p.Glu1233Val) | |
8 | g.115414189T>C | CA372062137 | TRPS1 | c.3719A>G (p.Glu1240Gly) c.3680A>G (p.Glu1227Gly) c.2942A>G (p.Glu981Gly) c.3692A>G (p.Glu1231Gly) c.3698A>G (p.Glu1233Gly) | |
8 | g.115414189T>G | CA372062138 | TRPS1 | c.3719A>C (p.Glu1240Ala) c.3680A>C (p.Glu1227Ala) c.2942A>C (p.Glu981Ala) c.3692A>C (p.Glu1231Ala) c.3698A>C (p.Glu1233Ala) | |
8 | g.115414190C>A | CA372062140 | TRPS1 | c.3718G>T (p.Glu1240Ter) c.3679G>T (p.Glu1227Ter) c.2941G>T (p.Glu981Ter) c.3691G>T (p.Glu1231Ter) c.3697G>T (p.Glu1233Ter) | |
8 | g.115414190C>G | CA372062141 | TRPS1 | c.3718G>C (p.Glu1240Gln) c.3679G>C (p.Glu1227Gln) c.2941G>C (p.Glu981Gln) c.3691G>C (p.Glu1231Gln) c.3697G>C (p.Glu1233Gln) | |
8 | g.115414190C>T | CA372062142 | TRPS1 | c.3718G>A (p.Glu1240Lys) c.3679G>A (p.Glu1227Lys) c.2941G>A (p.Glu981Lys) c.3691G>A (p.Glu1231Lys) c.3697G>A (p.Glu1233Lys) | |
8 | g.115414191A= | CA1812853703 | TRPS1 | c.3717T= (p.Asp1239=) c.3678T= (p.Asp1226=) c.2940T= (p.Asp980=) c.3690T= (p.Asp1230=) c.3696T= (p.Asp1232=) | |
8 | g.115414191A>C | CA372062143 | TRPS1 | c.3717T>G (p.Asp1239Glu) c.3678T>G (p.Asp1226Glu) c.2940T>G (p.Asp980Glu) c.3690T>G (p.Asp1230Glu) c.3696T>G (p.Asp1232Glu) | |
8 | g.115414191A>G | CA462658149 | TRPS1 | c.3717T>C (p.Asp1239=) c.3678T>C (p.Asp1226=) c.2940T>C (p.Asp980=) c.3690T>C (p.Asp1230=) c.3696T>C (p.Asp1232=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.115414191A>T | CA184469277 | TRPS1 | c.3717T>A (p.Asp1239Glu) c.3678T>A (p.Asp1226Glu) c.2940T>A (p.Asp980Glu) c.3690T>A (p.Asp1230Glu) c.3696T>A (p.Asp1232Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.115414192T>A | CA372062144 | TRPS1 | c.3716A>T (p.Asp1239Val) c.3677A>T (p.Asp1226Val) c.2939A>T (p.Asp980Val) c.3689A>T (p.Asp1230Val) c.3695A>T (p.Asp1232Val) | |
8 | g.115414192T>C | CA372062146 | TRPS1 | c.3716A>G (p.Asp1239Gly) c.3677A>G (p.Asp1226Gly) c.2939A>G (p.Asp980Gly) c.3689A>G (p.Asp1230Gly) c.3695A>G (p.Asp1232Gly) | ClinVar dbSNP |
8 | g.115414192T>G | CA372062145 | TRPS1 | c.3716A>C (p.Asp1239Ala) c.3677A>C (p.Asp1226Ala) c.2939A>C (p.Asp980Ala) c.3689A>C (p.Asp1230Ala) c.3695A>C (p.Asp1232Ala) | |
8 | g.115414193C>A | CA372062147 | TRPS1 | c.3715G>T (p.Asp1239Tyr) c.3676G>T (p.Asp1226Tyr) c.2938G>T (p.Asp980Tyr) c.3688G>T (p.Asp1230Tyr) c.3694G>T (p.Asp1232Tyr) | |
8 | g.115414193C>G | CA372062148 | TRPS1 | c.3715G>C (p.Asp1239His) c.3676G>C (p.Asp1226His) c.2938G>C (p.Asp980His) c.3688G>C (p.Asp1230His) c.3694G>C (p.Asp1232His) | |
8 | g.115414193C>T | CA372062149 | TRPS1 | c.3715G>A (p.Asp1239Asn) c.3676G>A (p.Asp1226Asn) c.2938G>A (p.Asp980Asn) c.3688G>A (p.Asp1230Asn) c.3694G>A (p.Asp1232Asn) | |
8 | g.115414194C>A | CA462658150 | TRPS1 | c.3714G>T (p.Leu1238=) c.3675G>T (p.Leu1225=) c.2937G>T (p.Leu979=) c.3687G>T (p.Leu1229=) c.3693G>T (p.Leu1231=) | |
8 | g.115414194C= | CA1812853704 | TRPS1 | c.3714G= (p.Leu1238=) c.3675G= (p.Leu1225=) c.2937G= (p.Leu979=) c.3687G= (p.Leu1229=) c.3693G= (p.Leu1231=) | |
8 | g.115414194C>G | CA462658151 | TRPS1 | c.3714G>C (p.Leu1238=) c.3675G>C (p.Leu1225=) c.2937G>C (p.Leu979=) c.3687G>C (p.Leu1229=) c.3693G>C (p.Leu1231=) | |
8 | g.115414194C>T | CA4851454 | TRPS1 | c.3714G>A (p.Leu1238=) c.3675G>A (p.Leu1225=) c.2937G>A (p.Leu979=) c.3687G>A (p.Leu1229=) c.3693G>A (p.Leu1231=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.115414195A>C | CA372062152 | TRPS1 | c.3713T>G (p.Leu1238Arg) c.3674T>G (p.Leu1225Arg) c.2936T>G (p.Leu979Arg) c.3686T>G (p.Leu1229Arg) c.3692T>G (p.Leu1231Arg) | |
8 | g.115414195A>G | CA372062150 | TRPS1 | c.3713T>C (p.Leu1238Pro) c.3674T>C (p.Leu1225Pro) c.2936T>C (p.Leu979Pro) c.3686T>C (p.Leu1229Pro) c.3692T>C (p.Leu1231Pro) | |
8 | g.115414195A>T | CA372062151 | TRPS1 | c.3713T>A (p.Leu1238Gln) c.3674T>A (p.Leu1225Gln) c.2936T>A (p.Leu979Gln) c.3686T>A (p.Leu1229Gln) c.3692T>A (p.Leu1231Gln) | |
8 | g.115414196G>A | CA462658152 | TRPS1 | c.3712C>T (p.Leu1238=) c.3673C>T (p.Leu1225=) c.2935C>T (p.Leu979=) c.3685C>T (p.Leu1229=) c.3691C>T (p.Leu1231=) | dbSNP |
8 | g.115414196G>C | CA372062153 | TRPS1 | c.3712C>G (p.Leu1238Val) c.3673C>G (p.Leu1225Val) c.2935C>G (p.Leu979Val) c.3685C>G (p.Leu1229Val) c.3691C>G (p.Leu1231Val) | |
8 | g.115414196G= | CA1812853705 | TRPS1 | c.3712C= (p.Leu1238=) c.3673C= (p.Leu1225=) c.2935C= (p.Leu979=) c.3685C= (p.Leu1229=) c.3691C= (p.Leu1231=) | |
8 | g.115414196G>T | CA372062154 | TRPS1 | c.3712C>A (p.Leu1238Met) c.3673C>A (p.Leu1225Met) c.2935C>A (p.Leu979Met) c.3685C>A (p.Leu1229Met) c.3691C>A (p.Leu1231Met) | |
8 | g.115414197A>C | CA372062155 | TRPS1 | c.3711T>G (p.Phe1237Leu) c.3672T>G (p.Phe1224Leu) c.2934T>G (p.Phe978Leu) c.3684T>G (p.Phe1228Leu) c.3690T>G (p.Phe1230Leu) | |
8 | g.115414197A>G | CA462658153 | TRPS1 | c.3711T>C (p.Phe1237=) c.3672T>C (p.Phe1224=) c.2934T>C (p.Phe978=) c.3684T>C (p.Phe1228=) c.3690T>C (p.Phe1230=) | |
8 | g.115414197A>T | CA372062156 | TRPS1 | c.3711T>A (p.Phe1237Leu) c.3672T>A (p.Phe1224Leu) c.2934T>A (p.Phe978Leu) c.3684T>A (p.Phe1228Leu) c.3690T>A (p.Phe1230Leu) | |
8 | g.115414198A>C | CA372062157 | TRPS1 | c.3710T>G (p.Phe1237Cys) c.3671T>G (p.Phe1224Cys) c.2933T>G (p.Phe978Cys) c.3683T>G (p.Phe1228Cys) c.3689T>G (p.Phe1230Cys) | |
8 | g.115414198A>G | CA372062158 | TRPS1 | c.3710T>C (p.Phe1237Ser) c.3671T>C (p.Phe1224Ser) c.2933T>C (p.Phe978Ser) c.3683T>C (p.Phe1228Ser) c.3689T>C (p.Phe1230Ser) | |
8 | g.115414198A>T | CA372062159 | TRPS1 | c.3710T>A (p.Phe1237Tyr) c.3671T>A (p.Phe1224Tyr) c.2933T>A (p.Phe978Tyr) c.3683T>A (p.Phe1228Tyr) c.3689T>A (p.Phe1230Tyr) | |
8 | g.115414199A>C | CA372062160 | TRPS1 | c.3709T>G (p.Phe1237Val) c.3670T>G (p.Phe1224Val) c.2932T>G (p.Phe978Val) c.3682T>G (p.Phe1228Val) c.3688T>G (p.Phe1230Val) | |
8 | g.115414199A>G | CA372062161 | TRPS1 | c.3709T>C (p.Phe1237Leu) c.3670T>C (p.Phe1224Leu) c.2932T>C (p.Phe978Leu) c.3682T>C (p.Phe1228Leu) c.3688T>C (p.Phe1230Leu) | |
8 | g.115414199A>T | CA372062162 | TRPS1 | c.3709T>A (p.Phe1237Ile) c.3670T>A (p.Phe1224Ile) c.2932T>A (p.Phe978Ile) c.3682T>A (p.Phe1228Ile) c.3688T>A (p.Phe1230Ile) | |
8 | g.115414200G>A | CA462658154 | TRPS1 | c.3708C>T (p.Val1236=) c.3669C>T (p.Val1223=) c.2931C>T (p.Val977=) c.3681C>T (p.Val1227=) c.3687C>T (p.Val1229=) | COSMIC COSMIC |
8 | g.115414200G>C | CA462658156 | TRPS1 | c.3708C>G (p.Val1236=) c.3669C>G (p.Val1223=) c.2931C>G (p.Val977=) c.3681C>G (p.Val1227=) c.3687C>G (p.Val1229=) | |
8 | g.115414200G>T | CA462658155 | TRPS1 | c.3708C>A (p.Val1236=) c.3669C>A (p.Val1223=) c.2931C>A (p.Val977=) c.3681C>A (p.Val1227=) c.3687C>A (p.Val1229=) | gnomAD v4 |
8 | g.115414201A= | CA1812853706 | TRPS1 | c.3707T= (p.Val1236=) c.3668T= (p.Val1223=) c.2930T= (p.Val977=) c.3680T= (p.Val1227=) c.3686T= (p.Val1229=) | |
8 | g.115414201A>C | CA372062163 | TRPS1 | c.3707T>G (p.Val1236Gly) c.3668T>G (p.Val1223Gly) c.2930T>G (p.Val977Gly) c.3680T>G (p.Val1227Gly) c.3686T>G (p.Val1229Gly) | |
8 | g.115414201A>G | CA372062164 | TRPS1 | c.3707T>C (p.Val1236Ala) c.3668T>C (p.Val1223Ala) c.2930T>C (p.Val977Ala) c.3680T>C (p.Val1227Ala) c.3686T>C (p.Val1229Ala) | dbSNP gnomAD v4 |
8 | g.115414201A>T | CA372062165 | TRPS1 | c.3707T>A (p.Val1236Asp) c.3668T>A (p.Val1223Asp) c.2930T>A (p.Val977Asp) c.3680T>A (p.Val1227Asp) c.3686T>A (p.Val1229Asp) | |
8 | g.115414202C>A | CA372062166 | TRPS1 | c.3706G>T (p.Val1236Phe) c.3667G>T (p.Val1223Phe) c.2929G>T (p.Val977Phe) c.3679G>T (p.Val1227Phe) c.3685G>T (p.Val1229Phe) | |
8 | g.115414202C>G | CA372062168 | TRPS1 | c.3706G>C (p.Val1236Leu) c.3667G>C (p.Val1223Leu) c.2929G>C (p.Val977Leu) c.3679G>C (p.Val1227Leu) c.3685G>C (p.Val1229Leu) | |
8 | g.115414202C>T | CA372062167 | TRPS1 | c.3706G>A (p.Val1236Ile) c.3667G>A (p.Val1223Ile) c.2929G>A (p.Val977Ile) c.3679G>A (p.Val1227Ile) c.3685G>A (p.Val1229Ile) | |
8 | g.115414203A>C | CA372062169 | TRPS1 | c.3705T>G (p.Ile1235Met) c.3666T>G (p.Ile1222Met) c.2928T>G (p.Ile976Met) c.3678T>G (p.Ile1226Met) c.3684T>G (p.Ile1228Met) | |
8 | g.115414203A>G | CA462658157 | TRPS1 | c.3705T>C (p.Ile1235=) c.3666T>C (p.Ile1222=) c.2928T>C (p.Ile976=) c.3678T>C (p.Ile1226=) c.3684T>C (p.Ile1228=) | |
8 | g.115414203A>T | CA462658158 | TRPS1 | c.3705T>A (p.Ile1235=) c.3666T>A (p.Ile1222=) c.2928T>A (p.Ile976=) c.3678T>A (p.Ile1226=) c.3684T>A (p.Ile1228=) | |
8 | g.115414204A>C | CA372062170 | TRPS1 | c.3704T>G (p.Ile1235Ser) c.3665T>G (p.Ile1222Ser) c.2927T>G (p.Ile976Ser) c.3677T>G (p.Ile1226Ser) c.3683T>G (p.Ile1228Ser) | |
8 | g.115414204A>G | CA372062171 | TRPS1 | c.3704T>C (p.Ile1235Thr) c.3665T>C (p.Ile1222Thr) c.2927T>C (p.Ile976Thr) c.3677T>C (p.Ile1226Thr) c.3683T>C (p.Ile1228Thr) | |
8 | g.115414204A>T | CA372062172 | TRPS1 | c.3704T>A (p.Ile1235Asn) c.3665T>A (p.Ile1222Asn) c.2927T>A (p.Ile976Asn) c.3677T>A (p.Ile1226Asn) c.3683T>A (p.Ile1228Asn) | |
8 | g.115414205T>A | CA372062173 | TRPS1 | c.3703A>T (p.Ile1235Phe) c.3664A>T (p.Ile1222Phe) c.2926A>T (p.Ile976Phe) c.3676A>T (p.Ile1226Phe) c.3682A>T (p.Ile1228Phe) | |
8 | g.115414205T>C | CA4851455 | TRPS1 | c.3703A>G (p.Ile1235Val) c.3664A>G (p.Ile1222Val) c.2926A>G (p.Ile976Val) c.3676A>G (p.Ile1226Val) c.3682A>G (p.Ile1228Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.115414205T>G | CA372062174 | TRPS1 | c.3703A>C (p.Ile1235Leu) c.3664A>C (p.Ile1222Leu) c.2926A>C (p.Ile976Leu) c.3676A>C (p.Ile1226Leu) c.3682A>C (p.Ile1228Leu) | |
8 | g.115414205T= | CA1812853707 | TRPS1 | c.3703A= (p.Ile1235=) c.3664A= (p.Ile1222=) c.2926A= (p.Ile976=) c.3676A= (p.Ile1226=) c.3682A= (p.Ile1228=) | |
8 | g.115414206G>A | CA462658165 | TRPS1 | c.3702C>T (p.Gly1234=) c.3663C>T (p.Gly1221=) c.2925C>T (p.Gly975=) c.3675C>T (p.Gly1225=) c.3681C>T (p.Gly1227=) | |
8 | g.115414206G>C | CA462658166 | TRPS1 | c.3702C>G (p.Gly1234=) c.3663C>G (p.Gly1221=) c.2925C>G (p.Gly975=) c.3675C>G (p.Gly1225=) c.3681C>G (p.Gly1227=) | |
8 | g.115414206G>T | CA462658167 | TRPS1 | c.3702C>A (p.Gly1234=) c.3663C>A (p.Gly1221=) c.2925C>A (p.Gly975=) c.3675C>A (p.Gly1225=) c.3681C>A (p.Gly1227=) | |
8 | g.115414207C>A | CA372062175 | TRPS1 | c.3701G>T (p.Gly1234Val) c.3662G>T (p.Gly1221Val) c.2924G>T (p.Gly975Val) c.3674G>T (p.Gly1225Val) c.3680G>T (p.Gly1227Val) | |
8 | g.115414207C>G | CA372062176 | TRPS1 | c.3701G>C (p.Gly1234Ala) c.3662G>C (p.Gly1221Ala) c.2924G>C (p.Gly975Ala) c.3674G>C (p.Gly1225Ala) c.3680G>C (p.Gly1227Ala) | |
8 | g.115414207C>T | CA372062177 | TRPS1 | c.3701G>A (p.Gly1234Asp) c.3662G>A (p.Gly1221Asp) c.2924G>A (p.Gly975Asp) c.3674G>A (p.Gly1225Asp) c.3680G>A (p.Gly1227Asp) | ClinVar dbSNP COSMIC COSMIC |
8 | g.115414208C>A | CA372062178 | TRPS1 | c.3700G>T (p.Gly1234Cys) c.3661G>T (p.Gly1221Cys) c.2923G>T (p.Gly975Cys) c.3673G>T (p.Gly1225Cys) c.3679G>T (p.Gly1227Cys) | |
8 | g.115414208C>G | CA372062179 | TRPS1 | c.3700G>C (p.Gly1234Arg) c.3661G>C (p.Gly1221Arg) c.2923G>C (p.Gly975Arg) c.3673G>C (p.Gly1225Arg) c.3679G>C (p.Gly1227Arg) | |
8 | g.115414208C>T | CA372062180 | TRPS1 | c.3700G>A (p.Gly1234Ser) c.3661G>A (p.Gly1221Ser) c.2923G>A (p.Gly975Ser) c.3673G>A (p.Gly1225Ser) c.3679G>A (p.Gly1227Ser) | |
8 | g.115414209A>C | CA372062181 | TRPS1 | c.3699T>G (p.Cys1233Trp) c.3660T>G (p.Cys1220Trp) c.2922T>G (p.Cys974Trp) c.3672T>G (p.Cys1224Trp) c.3678T>G (p.Cys1226Trp) | |
8 | g.115414209A>G | CA462658173 | TRPS1 | c.3699T>C (p.Cys1233=) c.3660T>C (p.Cys1220=) c.2922T>C (p.Cys974=) c.3672T>C (p.Cys1224=) c.3678T>C (p.Cys1226=) | gnomAD v4 |
8 | g.115414209A>T | CA372062182 | TRPS1 | c.3699T>A (p.Cys1233Ter) c.3660T>A (p.Cys1220Ter) c.2922T>A (p.Cys974Ter) c.3672T>A (p.Cys1224Ter) c.3678T>A (p.Cys1226Ter) | |
8 | g.115414210C>A | CA372062183 | TRPS1 | c.3698G>T (p.Cys1233Phe) c.3659G>T (p.Cys1220Phe) c.2921G>T (p.Cys974Phe) c.3671G>T (p.Cys1224Phe) c.3677G>T (p.Cys1226Phe) | |
8 | g.115414210C= | CA1812853708 | TRPS1 | c.3698G= (p.Cys1233=) c.3659G= (p.Cys1220=) c.2921G= (p.Cys974=) c.3671G= (p.Cys1224=) c.3677G= (p.Cys1226=) | |
8 | g.115414210C>G | CA372062184 | TRPS1 | c.3698G>C (p.Cys1233Ser) c.3659G>C (p.Cys1220Ser) c.2921G>C (p.Cys974Ser) c.3671G>C (p.Cys1224Ser) c.3677G>C (p.Cys1226Ser) | |
8 | g.115414210C>T | CA372062185 | TRPS1 | c.3698G>A (p.Cys1233Tyr) c.3659G>A (p.Cys1220Tyr) c.2921G>A (p.Cys974Tyr) c.3671G>A (p.Cys1224Tyr) c.3677G>A (p.Cys1226Tyr) | ClinVar dbSNP |
8 | g.115414211A>C | CA372062186 | TRPS1 | c.3697T>G (p.Cys1233Gly) c.3658T>G (p.Cys1220Gly) c.2920T>G (p.Cys974Gly) c.3670T>G (p.Cys1224Gly) c.3676T>G (p.Cys1226Gly) | |
8 | g.115414211A>G | CA372062187 | TRPS1 | c.3697T>C (p.Cys1233Arg) c.3658T>C (p.Cys1220Arg) c.2920T>C (p.Cys974Arg) c.3670T>C (p.Cys1224Arg) c.3676T>C (p.Cys1226Arg) | |
8 | g.115414211A>T | CA372062188 | TRPS1 | c.3697T>A (p.Cys1233Ser) c.3658T>A (p.Cys1220Ser) c.2920T>A (p.Cys974Ser) c.3670T>A (p.Cys1224Ser) c.3676T>A (p.Cys1226Ser) | |
8 | g.115414212G>A | CA462658179 | TRPS1 | c.3696C>T (p.His1232=) c.3657C>T (p.His1219=) c.2919C>T (p.His973=) c.3669C>T (p.His1223=) c.3675C>T (p.His1225=) | |
8 | g.115414212G>C | CA372062189 | TRPS1 | c.3696C>G (p.His1232Gln) c.3657C>G (p.His1219Gln) c.2919C>G (p.His973Gln) c.3669C>G (p.His1223Gln) c.3675C>G (p.His1225Gln) | |
8 | g.115414212G>T | CA372062190 | TRPS1 | c.3696C>A (p.His1232Gln) c.3657C>A (p.His1219Gln) c.2919C>A (p.His973Gln) c.3669C>A (p.His1223Gln) c.3675C>A (p.His1225Gln) | |
8 | g.115414213T>A | CA372062191 | TRPS1 | c.3695A>T (p.His1232Leu) c.3656A>T (p.His1219Leu) c.2918A>T (p.His973Leu) c.3668A>T (p.His1223Leu) c.3674A>T (p.His1225Leu) | |
8 | g.115414213T>C | CA372062192 | TRPS1 | c.3695A>G (p.His1232Arg) c.3656A>G (p.His1219Arg) c.2918A>G (p.His973Arg) c.3668A>G (p.His1223Arg) c.3674A>G (p.His1225Arg) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.115414213T>G | CA372062193 | TRPS1 | c.3695A>C (p.His1232Pro) c.3656A>C (p.His1219Pro) c.2918A>C (p.His973Pro) c.3668A>C (p.His1223Pro) c.3674A>C (p.His1225Pro) | gnomAD v4 |
8 | g.115414213T= | CA1812853709 | TRPS1 | c.3695A= (p.His1232=) c.3656A= (p.His1219=) c.2918A= (p.His973=) c.3668A= (p.His1223=) c.3674A= (p.His1225=) | |
8 | g.115414214G>A | CA372062196 | TRPS1 | c.3694C>T (p.His1232Tyr) c.3655C>T (p.His1219Tyr) c.2917C>T (p.His973Tyr) c.3667C>T (p.His1223Tyr) c.3673C>T (p.His1225Tyr) | gnomAD v4 |
8 | g.115414214G>C | CA372062195 | TRPS1 | c.3694C>G (p.His1232Asp) c.3655C>G (p.His1219Asp) c.2917C>G (p.His973Asp) c.3667C>G (p.His1223Asp) c.3673C>G (p.His1225Asp) | |
8 | g.115414214G>T | CA372062194 | TRPS1 | c.3694C>A (p.His1232Asn) c.3655C>A (p.His1219Asn) c.2917C>A (p.His973Asn) c.3667C>A (p.His1223Asn) c.3673C>A (p.His1225Asn) | |
8 | g.115414215C>A | CA462658180 | TRPS1 | c.3693G>T (p.Val1231=) c.3654G>T (p.Val1218=) c.2916G>T (p.Val972=) c.3666G>T (p.Val1222=) c.3672G>T (p.Val1224=) | dbSNP |
8 | g.115414215C= | CA1812853710 | TRPS1 | c.3693G= (p.Val1231=) c.3654G= (p.Val1218=) c.2916G= (p.Val972=) c.3666G= (p.Val1222=) c.3672G= (p.Val1224=) | |
8 | g.115414215C>G | CA462658181 | TRPS1 | c.3693G>C (p.Val1231=) c.3654G>C (p.Val1218=) c.2916G>C (p.Val972=) c.3666G>C (p.Val1222=) c.3672G>C (p.Val1224=) | |
8 | g.115414215C>T | CA462658183 | TRPS1 | c.3693G>A (p.Val1231=) c.3654G>A (p.Val1218=) c.2916G>A (p.Val972=) c.3666G>A (p.Val1222=) c.3672G>A (p.Val1224=) | |
8 | g.115414216A= | CA1812853711 | TRPS1 | c.3692T= (p.Val1231=) c.3653T= (p.Val1218=) c.2915T= (p.Val972=) c.3665T= (p.Val1222=) c.3671T= (p.Val1224=) | |
8 | g.115414216A>C | CA372062197 | TRPS1 | c.3692T>G (p.Val1231Gly) c.3653T>G (p.Val1218Gly) c.2915T>G (p.Val972Gly) c.3665T>G (p.Val1222Gly) c.3671T>G (p.Val1224Gly) | |
8 | g.115414216A>G | CA372062199 | TRPS1 | c.3692T>C (p.Val1231Ala) c.3653T>C (p.Val1218Ala) c.2915T>C (p.Val972Ala) c.3665T>C (p.Val1222Ala) c.3671T>C (p.Val1224Ala) | dbSNP |
8 | g.115414216A>T | CA372062198 | TRPS1 | c.3692T>A (p.Val1231Glu) c.3653T>A (p.Val1218Glu) c.2915T>A (p.Val972Glu) c.3665T>A (p.Val1222Glu) c.3671T>A (p.Val1224Glu) | |
8 | g.115414217C>A | CA372062200 | TRPS1 | c.3691G>T (p.Val1231Leu) c.3652G>T (p.Val1218Leu) c.2914G>T (p.Val972Leu) c.3664G>T (p.Val1222Leu) c.3670G>T (p.Val1224Leu) | |
8 | g.115414217C= | CA1812853712 | TRPS1 | c.3691G= (p.Val1231=) c.3652G= (p.Val1218=) c.2914G= (p.Val972=) c.3664G= (p.Val1222=) c.3670G= (p.Val1224=) | |
8 | g.115414217C>G | CA372062201 | TRPS1 | c.3691G>C (p.Val1231Leu) c.3652G>C (p.Val1218Leu) c.2914G>C (p.Val972Leu) c.3664G>C (p.Val1222Leu) c.3670G>C (p.Val1224Leu) | |
8 | g.115414217C>T | CA372062202 | TRPS1 | c.3691G>A (p.Val1231Met) c.3652G>A (p.Val1218Met) c.2914G>A (p.Val972Met) c.3664G>A (p.Val1222Met) c.3670G>A (p.Val1224Met) | dbSNP |
8 | g.115414217_115414218insGGACAAAT | CA1812853713 | TRPS1 | c.3690_3691insATTTGTCC (p.Val1231IlefsTer14) c.3651_3652insATTTGTCC (p.Val1218IlefsTer14) c.2913_2914insATTTGTCC (p.Val972IlefsTer14) c.3663_3664insATTTGTCC (p.Val1222IlefsTer14) c.3669_3670insATTTGTCC (p.Val1224IlefsTer14) | dbSNP |
8 | g.115414218A>C | CA372062203 | TRPS1 | c.3690T>G (p.Cys1230Trp) c.3651T>G (p.Cys1217Trp) c.2913T>G (p.Cys971Trp) c.3663T>G (p.Cys1221Trp) c.3669T>G (p.Cys1223Trp) | |
8 | g.115414218A>G | CA462658185 | TRPS1 | c.3690T>C (p.Cys1230=) c.3651T>C (p.Cys1217=) c.2913T>C (p.Cys971=) c.3663T>C (p.Cys1221=) c.3669T>C (p.Cys1223=) | |
8 | g.115414218A>T | CA372062204 | TRPS1 | c.3690T>A (p.Cys1230Ter) c.3651T>A (p.Cys1217Ter) c.2913T>A (p.Cys971Ter) c.3663T>A (p.Cys1221Ter) c.3669T>A (p.Cys1223Ter) | |
8 | g.115414219C>A | CA372062205 | TRPS1 | c.3689G>T (p.Cys1230Phe) c.3650G>T (p.Cys1217Phe) c.2912G>T (p.Cys971Phe) c.3662G>T (p.Cys1221Phe) c.3668G>T (p.Cys1223Phe) | |
8 | g.115414219C>G | CA372062206 | TRPS1 | c.3689G>C (p.Cys1230Ser) c.3650G>C (p.Cys1217Ser) c.2912G>C (p.Cys971Ser) c.3662G>C (p.Cys1221Ser) c.3668G>C (p.Cys1223Ser) | |
8 | g.115414219C>T | CA372062207 | TRPS1 | c.3689G>A (p.Cys1230Tyr) c.3650G>A (p.Cys1217Tyr) c.2912G>A (p.Cys971Tyr) c.3662G>A (p.Cys1221Tyr) c.3668G>A (p.Cys1223Tyr) | |
8 | g.115414220A>C | CA372062208 | TRPS1 | c.3688T>G (p.Cys1230Gly) c.3649T>G (p.Cys1217Gly) c.2911T>G (p.Cys971Gly) c.3661T>G (p.Cys1221Gly) c.3667T>G (p.Cys1223Gly) | |
8 | g.115414220A>G | CA372062209 | TRPS1 | c.3688T>C (p.Cys1230Arg) c.3649T>C (p.Cys1217Arg) c.2911T>C (p.Cys971Arg) c.3661T>C (p.Cys1221Arg) c.3667T>C (p.Cys1223Arg) | |
8 | g.115414220A>T | CA372062210 | TRPS1 | c.3688T>A (p.Cys1230Ser) c.3649T>A (p.Cys1217Ser) c.2911T>A (p.Cys971Ser) c.3661T>A (p.Cys1221Ser) c.3667T>A (p.Cys1223Ser) | |
8 | g.115414221T>A | CA372062212 | TRPS1 | c.3687A>T (p.Lys1229Asn) c.3648A>T (p.Lys1216Asn) c.2910A>T (p.Lys970Asn) c.3660A>T (p.Lys1220Asn) c.3666A>T (p.Lys1222Asn) | |
8 | g.115414221T>C | CA462658189 | TRPS1 | c.3687A>G (p.Lys1229=) c.3648A>G (p.Lys1216=) c.2910A>G (p.Lys970=) c.3660A>G (p.Lys1220=) c.3666A>G (p.Lys1222=) | |
8 | g.115414221T>G | CA372062211 | TRPS1 | c.3687A>C (p.Lys1229Asn) c.3648A>C (p.Lys1216Asn) c.2910A>C (p.Lys970Asn) c.3660A>C (p.Lys1220Asn) c.3666A>C (p.Lys1222Asn) | |
8 | g.115414222T>A | CA372062213 | TRPS1 | c.3686A>T (p.Lys1229Ile) c.3647A>T (p.Lys1216Ile) c.2909A>T (p.Lys970Ile) c.3659A>T (p.Lys1220Ile) c.3665A>T (p.Lys1222Ile) | |
8 | g.115414222T>C | CA372062214 | TRPS1 | c.3686A>G (p.Lys1229Arg) c.3647A>G (p.Lys1216Arg) c.2909A>G (p.Lys970Arg) c.3659A>G (p.Lys1220Arg) c.3665A>G (p.Lys1222Arg) | |
8 | g.115414222T>G | CA372062215 | TRPS1 | c.3686A>C (p.Lys1229Thr) c.3647A>C (p.Lys1216Thr) c.2909A>C (p.Lys970Thr) c.3659A>C (p.Lys1220Thr) c.3665A>C (p.Lys1222Thr) | |
8 | g.115414223T>A | CA372062216 | TRPS1 | c.3685A>T (p.Lys1229Ter) c.3646A>T (p.Lys1216Ter) c.2908A>T (p.Lys970Ter) c.3658A>T (p.Lys1220Ter) c.3664A>T (p.Lys1222Ter) | |
8 | g.115414223T>C | CA372062217 | TRPS1 | c.3685A>G (p.Lys1229Glu) c.3646A>G (p.Lys1216Glu) c.2908A>G (p.Lys970Glu) c.3658A>G (p.Lys1220Glu) c.3664A>G (p.Lys1222Glu) | |
8 | g.115414223T>G | CA372062218 | TRPS1 | c.3685A>C (p.Lys1229Gln) c.3646A>C (p.Lys1216Gln) c.2908A>C (p.Lys970Gln) c.3658A>C (p.Lys1220Gln) c.3664A>C (p.Lys1222Gln) | |
8 | g.115414224T>A | CA462658192 | TRPS1 | c.3684A>T (p.Thr1228=) c.3645A>T (p.Thr1215=) c.2907A>T (p.Thr969=) c.3657A>T (p.Thr1219=) c.3663A>T (p.Thr1221=) | |
8 | g.115414224T>C | CA462658193 | TRPS1 | c.3684A>G (p.Thr1228=) c.3645A>G (p.Thr1215=) c.2907A>G (p.Thr969=) c.3657A>G (p.Thr1219=) c.3663A>G (p.Thr1221=) | COSMIC COSMIC |
8 | g.115414224T>G | CA462658194 | TRPS1 | c.3684A>C (p.Thr1228=) c.3645A>C (p.Thr1215=) c.2907A>C (p.Thr969=) c.3657A>C (p.Thr1219=) c.3663A>C (p.Thr1221=) |