UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15642043T>A | CA351605812 | BTD | c.385T>A (p.Phe129Ile) n.1224T>A c.151T>A (p.Phe51Ile) c.445T>A (p.Phe149Ile) c.451T>A (p.Phe151Ile) c.163T>A (p.Phe55Ile) n.520T>A | dbSNP |
| 3 | g.15642043T>C | CA278206 | BTD | c.385T>C (p.Phe129Leu) n.1224T>C c.151T>C (p.Phe51Leu) c.445T>C (p.Phe149Leu) c.451T>C (p.Phe151Leu) c.163T>C (p.Phe55Leu) n.520T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15642043T>G | CA351605815 | BTD | c.385T>G (p.Phe129Val) n.1224T>G c.151T>G (p.Phe51Val) c.445T>G (p.Phe149Val) c.451T>G (p.Phe151Val) c.163T>G (p.Phe55Val) n.520T>G | |
| 3 | g.15642043T= | CA1347644981 | BTD | c.385T= (p.Phe129=) n.1224T= c.151T= (p.Phe51=) c.445T= (p.Phe149=) c.451T= (p.Phe151=) c.163T= (p.Phe55=) n.520T= | |
| 3 | g.15642044T>A | CA351605817 | BTD | c.386T>A (p.Phe129Tyr) n.1225T>A c.152T>A (p.Phe51Tyr) c.446T>A (p.Phe149Tyr) c.452T>A (p.Phe151Tyr) c.164T>A (p.Phe55Tyr) n.521T>A | |
| 3 | g.15642044T>C | CA351605818 | BTD | c.386T>C (p.Phe129Ser) n.1225T>C c.152T>C (p.Phe51Ser) c.446T>C (p.Phe149Ser) c.452T>C (p.Phe151Ser) c.164T>C (p.Phe55Ser) n.521T>C | gnomAD v4 |
| 3 | g.15642044T>G | CA351605820 | BTD | c.386T>G (p.Phe129Cys) n.1225T>G c.152T>G (p.Phe51Cys) c.446T>G (p.Phe149Cys) c.452T>G (p.Phe151Cys) c.164T>G (p.Phe55Cys) n.521T>G | |
| 3 | g.15642045C>A | CA351605827 | BTD | c.387C>A (p.Phe129Leu) n.1226C>A c.153C>A (p.Phe51Leu) c.447C>A (p.Phe149Leu) c.453C>A (p.Phe151Leu) c.165C>A (p.Phe55Leu) n.522C>A | |
| 3 | g.15642045C= | CA1347644985 | BTD | c.387C= (p.Phe129=) n.1226C= c.153C= (p.Phe51=) c.447C= (p.Phe149=) c.453C= (p.Phe151=) c.165C= (p.Phe55=) n.522C= | |
| 3 | g.15642045C>G | CA351605821 | BTD | c.387C>G (p.Phe129Leu) n.1226C>G c.153C>G (p.Phe51Leu) c.447C>G (p.Phe149Leu) c.453C>G (p.Phe151Leu) c.165C>G (p.Phe55Leu) n.522C>G | |
| 3 | g.15642045C>T | CA2277310 | BTD | c.387C>T (p.Phe129=) n.1226C>T c.153C>T (p.Phe51=) c.447C>T (p.Phe149=) c.453C>T (p.Phe151=) c.165C>T (p.Phe55=) n.522C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15642046A>C | CA351605829 | BTD | c.388A>C (p.Asn130His) n.1227A>C c.154A>C (p.Asn52His) c.448A>C (p.Asn150His) c.454A>C (p.Asn152His) c.166A>C (p.Asn56His) n.523A>C | |
| 3 | g.15642046A>G | CA351605831 | BTD | c.388A>G (p.Asn130Asp) n.1227A>G c.154A>G (p.Asn52Asp) c.448A>G (p.Asn150Asp) c.454A>G (p.Asn152Asp) c.166A>G (p.Asn56Asp) n.523A>G | gnomAD v4 |
| 3 | g.15642046A>T | CA351605834 | BTD | c.388A>T (p.Asn130Tyr) n.1227A>T c.154A>T (p.Asn52Tyr) c.448A>T (p.Asn150Tyr) c.454A>T (p.Asn152Tyr) c.166A>T (p.Asn56Tyr) n.523A>T | |
| 3 | g.15642047A= | CA1347644988 | BTD | c.389A= (p.Asn130=) n.1228A= c.155A= (p.Asn52=) c.449A= (p.Asn150=) c.455A= (p.Asn152=) c.167A= (p.Asn56=) n.524A= | |
| 3 | g.15642047A>C | CA351605836 | BTD | c.389A>C (p.Asn130Thr) n.1228A>C c.155A>C (p.Asn52Thr) c.449A>C (p.Asn150Thr) c.455A>C (p.Asn152Thr) c.167A>C (p.Asn56Thr) n.524A>C | |
| 3 | g.15642047A>G | CA2277311 | BTD | c.389A>G (p.Asn130Ser) n.1228A>G c.155A>G (p.Asn52Ser) c.449A>G (p.Asn150Ser) c.455A>G (p.Asn152Ser) c.167A>G (p.Asn56Ser) n.524A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15642047A>T | CA351605840 | BTD | c.389A>T (p.Asn130Ile) n.1228A>T c.155A>T (p.Asn52Ile) c.449A>T (p.Asn150Ile) c.455A>T (p.Asn152Ile) c.167A>T (p.Asn56Ile) n.524A>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15642048T>A | CA351605842 | BTD | c.390T>A (p.Asn130Lys) n.1229T>A c.156T>A (p.Asn52Lys) c.450T>A (p.Asn150Lys) c.456T>A (p.Asn152Lys) c.168T>A (p.Asn56Lys) n.525T>A | |
| 3 | g.15642048T>C | CA432649192 | BTD | c.390T>C (p.Asn130=) n.1229T>C c.156T>C (p.Asn52=) c.450T>C (p.Asn150=) c.456T>C (p.Asn152=) c.168T>C (p.Asn56=) n.525T>C | |
| 3 | g.15642048T>G | CA351605845 | BTD | c.390T>G (p.Asn130Lys) n.1229T>G c.156T>G (p.Asn52Lys) c.450T>G (p.Asn150Lys) c.456T>G (p.Asn152Lys) c.168T>G (p.Asn56Lys) n.525T>G | dbSNP gnomAD v4 |
| 3 | g.15642048T= | CA1347644991 | BTD | c.390T= (p.Asn130=) n.1229T= c.156T= (p.Asn52=) c.450T= (p.Asn150=) c.456T= (p.Asn152=) c.168T= (p.Asn56=) n.525T= | |
| 3 | g.15642049G>A | CA351605847 | BTD | c.391G>A (p.Asp131Asn) n.1230G>A c.157G>A (p.Asp53Asn) c.451G>A (p.Asp151Asn) c.457G>A (p.Asp153Asn) c.169G>A (p.Asp57Asn) n.526G>A | |
| 3 | g.15642049G>C | CA351605849 | BTD | c.391G>C (p.Asp131His) n.1230G>C c.157G>C (p.Asp53His) c.451G>C (p.Asp151His) c.457G>C (p.Asp153His) c.169G>C (p.Asp57His) n.526G>C | |
| 3 | g.15642049G>T | CA351605850 | BTD | c.391G>T (p.Asp131Tyr) n.1230G>T c.157G>T (p.Asp53Tyr) c.451G>T (p.Asp151Tyr) c.457G>T (p.Asp153Tyr) c.169G>T (p.Asp57Tyr) n.526G>T | |
| 3 | g.15642050A= | CA1347644994 | BTD | c.392A= (p.Asp131=) n.1231A= c.158A= (p.Asp53=) c.452A= (p.Asp151=) c.458A= (p.Asp153=) c.170A= (p.Asp57=) n.527A= | |
| 3 | g.15642050A>C | CA351605855 | BTD | c.392A>C (p.Asp131Ala) n.1231A>C c.158A>C (p.Asp53Ala) c.452A>C (p.Asp151Ala) c.458A>C (p.Asp153Ala) c.170A>C (p.Asp57Ala) n.527A>C | |
| 3 | g.15642050A>G | CA2277312 | BTD | c.392A>G (p.Asp131Gly) n.1231A>G c.158A>G (p.Asp53Gly) c.452A>G (p.Asp151Gly) c.458A>G (p.Asp153Gly) c.170A>G (p.Asp57Gly) n.527A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.15642050A>T | CA351605853 | BTD | c.392A>T (p.Asp131Val) n.1231A>T c.158A>T (p.Asp53Val) c.452A>T (p.Asp151Val) c.458A>T (p.Asp153Val) c.170A>T (p.Asp57Val) n.527A>T | gnomAD v4 |
| 3 | g.15642051C>A | CA351605859 | BTD | c.393C>A (p.Asp131Glu) n.1232C>A c.159C>A (p.Asp53Glu) c.453C>A (p.Asp151Glu) c.459C>A (p.Asp153Glu) c.171C>A (p.Asp57Glu) n.528C>A | |
| 3 | g.15642051C>G | CA351605862 | BTD | c.393C>G (p.Asp131Glu) n.1232C>G c.159C>G (p.Asp53Glu) c.453C>G (p.Asp151Glu) c.459C>G (p.Asp153Glu) c.171C>G (p.Asp57Glu) n.528C>G | |
| 3 | g.15642051C>T | CA432649193 | BTD | c.393C>T (p.Asp131=) n.1232C>T c.159C>T (p.Asp53=) c.453C>T (p.Asp151=) c.459C>T (p.Asp153=) c.171C>T (p.Asp57=) n.528C>T | |
| 3 | g.15642052A= | CA1347645004 | BTD | c.394A= (p.Thr132=) n.1233A= c.160A= (p.Thr54=) c.454A= (p.Thr152=) c.460A= (p.Thr154=) c.172A= (p.Thr58=) n.529A= | |
| 3 | g.15642052A>C | CA278208 | BTD | c.394A>C (p.Thr132Pro) n.1233A>C c.160A>C (p.Thr54Pro) c.454A>C (p.Thr152Pro) c.460A>C (p.Thr154Pro) c.172A>C (p.Thr58Pro) n.529A>C | dbSNP |
| 3 | g.15642052A>G | CA70619393 | BTD | c.394A>G (p.Thr132Ala) n.1233A>G c.160A>G (p.Thr54Ala) c.454A>G (p.Thr152Ala) c.460A>G (p.Thr154Ala) c.172A>G (p.Thr58Ala) n.529A>G | dbSNP gnomAD v4 |
| 3 | g.15642052A>T | CA351605866 | BTD | c.394A>T (p.Thr132Ser) n.1233A>T c.160A>T (p.Thr54Ser) c.454A>T (p.Thr152Ser) c.460A>T (p.Thr154Ser) c.172A>T (p.Thr58Ser) n.529A>T | COSMIC |
| 3 | g.15642052dup | CA2664637737 | BTD | c.394dup (p.Thr132AsnfsTer30) c.394dup (p.Thr132AsnfsTer20) c.394dup (p.Thr132AsnfsTer11) n.1233dup c.160dup (p.Thr54AsnfsTer20) c.454dup (p.Thr152AsnfsTer30) c.460dup (p.Thr154AsnfsTer30) c.394dup (p.Thr132AsnfsTer9) c.172dup (p.Thr58AsnfsTer30) c.394dup (p.Thr132AsnfsTer?) n.529dup c.454dup (p.Thr152AsnfsTer11) | gnomAD v4 |
| 3 | g.15642052_15642074del | CA2664637738 | BTD | c.394_399+17del c.394_416del (p.Thr132ProfsTer3) n.1233_1255del c.160_165+17del c.454_459+17del c.460_465+17del c.172_177+17del n.529_551del c.454_476del (p.Thr152ProfsTer3) | gnomAD v4 |
| 3 | g.15642053C>A | CA351605871 | BTD | c.395C>A (p.Thr132Lys) n.1234C>A c.161C>A (p.Thr54Lys) c.455C>A (p.Thr152Lys) c.461C>A (p.Thr154Lys) c.173C>A (p.Thr58Lys) n.530C>A | |
| 3 | g.15642053C= | CA1347645012 | BTD | c.395C= (p.Thr132=) n.1234C= c.161C= (p.Thr54=) c.455C= (p.Thr152=) c.461C= (p.Thr154=) c.173C= (p.Thr58=) n.530C= | |
| 3 | g.15642053C>G | CA278435 | BTD | c.395C>G (p.Thr132Arg) n.1234C>G c.161C>G (p.Thr54Arg) c.455C>G (p.Thr152Arg) c.461C>G (p.Thr154Arg) c.173C>G (p.Thr58Arg) n.530C>G | ClinVar dbSNP |
| 3 | g.15642053C>T | CA2277313 | BTD | c.395C>T (p.Thr132Ile) n.1234C>T c.161C>T (p.Thr54Ile) c.455C>T (p.Thr152Ile) c.461C>T (p.Thr154Ile) c.173C>T (p.Thr58Ile) n.530C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15642054A>C | CA432649195 | BTD | c.396A>C (p.Thr132=) n.1235A>C c.162A>C (p.Thr54=) c.456A>C (p.Thr152=) c.462A>C (p.Thr154=) c.174A>C (p.Thr58=) n.531A>C | |
| 3 | g.15642054A>G | CA432649194 | BTD | c.396A>G (p.Thr132=) n.1235A>G c.162A>G (p.Thr54=) c.456A>G (p.Thr152=) c.462A>G (p.Thr154=) c.174A>G (p.Thr58=) n.531A>G | |
| 3 | g.15642054A>T | CA432649196 | BTD | c.396A>T (p.Thr132=) n.1235A>T c.162A>T (p.Thr54=) c.456A>T (p.Thr152=) c.462A>T (p.Thr154=) c.174A>T (p.Thr58=) n.531A>T | |
| 3 | g.15642055G>A | CA351605873 | BTD | c.397G>A (p.Glu133Lys) n.1236G>A c.163G>A (p.Glu55Lys) c.457G>A (p.Glu153Lys) c.463G>A (p.Glu155Lys) c.175G>A (p.Glu59Lys) n.532G>A | |
| 3 | g.15642055G>C | CA351605875 | BTD | c.397G>C (p.Glu133Gln) n.1236G>C c.163G>C (p.Glu55Gln) c.457G>C (p.Glu153Gln) c.463G>C (p.Glu155Gln) c.175G>C (p.Glu59Gln) n.532G>C | gnomAD v4 |
| 3 | g.15642055G>T | CA351605876 | BTD | c.397G>T (p.Glu133Ter) n.1236G>T c.163G>T (p.Glu55Ter) c.457G>T (p.Glu153Ter) c.463G>T (p.Glu155Ter) c.175G>T (p.Glu59Ter) n.532G>T | |
| 3 | g.15642056A= | CA1347645015 | BTD | c.398A= (p.Glu133=) n.1237A= c.164A= (p.Glu55=) c.458A= (p.Glu153=) c.464A= (p.Glu155=) c.176A= (p.Glu59=) n.533A= | |
| 3 | g.15642056A>C | CA351605878 | BTD | c.398A>C (p.Glu133Ala) n.1237A>C c.164A>C (p.Glu55Ala) c.458A>C (p.Glu153Ala) c.464A>C (p.Glu155Ala) c.176A>C (p.Glu59Ala) n.533A>C |