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 |
|---|---|---|---|---|---|
| 11 | g.71444040T>A | CA381696207 | DHCR7 | c.274A>T (p.Ile92Leu) c.100A>T (p.Ile34Leu) n.551A>T c.-312A>T (n.-312A>T) c.178A>T (p.Ile60Leu) c.214A>T (p.Ile72Leu) | |
| 11 | g.71444040T>C | CA381696211 | DHCR7 | c.274A>G (p.Ile92Val) c.100A>G (p.Ile34Val) n.551A>G c.-312A>G (n.-312A>G) c.178A>G (p.Ile60Val) c.214A>G (p.Ile72Val) | gnomAD v4 |
| 11 | g.71444040T>G | CA381696209 | DHCR7 | c.274A>C (p.Ile92Leu) c.100A>C (p.Ile34Leu) n.551A>C c.-312A>C (n.-312A>C) c.178A>C (p.Ile60Leu) c.214A>C (p.Ile72Leu) | |
| 11 | g.71444041A= | CA1981491031 | DHCR7 | c.273T= (p.Pro91=) c.99T= (p.Pro33=) n.550T= c.-313T= (n.-313T=) c.177T= (p.Pro59=) c.213T= (p.Pro71=) | |
| 11 | g.71444041A>C | CA475520240 | DHCR7 | c.273T>G (p.Pro91=) c.99T>G (p.Pro33=) n.550T>G c.-313T>G (n.-313T>G) c.177T>G (p.Pro59=) c.213T>G (p.Pro71=) | |
| 11 | g.71444041A>G | CA6162648 | DHCR7 | c.273T>C (p.Pro91=) c.99T>C (p.Pro33=) n.550T>C c.-313T>C (n.-313T>C) c.177T>C (p.Pro59=) c.213T>C (p.Pro71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444041A>T | CA475520242 | DHCR7 | c.273T>A (p.Pro91=) c.99T>A (p.Pro33=) n.550T>A c.-313T>A (n.-313T>A) c.177T>A (p.Pro59=) c.213T>A (p.Pro71=) | ClinVar dbSNP |
| 11 | g.71444042G>A | CA381696213 | DHCR7 | c.272C>T (p.Pro91Leu) c.98C>T (p.Pro33Leu) n.549C>T c.-314C>T (n.-314C>T) c.176C>T (p.Pro59Leu) c.212C>T (p.Pro71Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.71444042G>C | CA381696215 | DHCR7 | c.272C>G (p.Pro91Arg) c.98C>G (p.Pro33Arg) n.549C>G c.-314C>G (n.-314C>G) c.176C>G (p.Pro59Arg) c.212C>G (p.Pro71Arg) | |
| 11 | g.71444042G= | CA1981491032 | DHCR7 | c.272C= (p.Pro91=) c.98C= (p.Pro33=) n.549C= c.-314C= (n.-314C=) c.176C= (p.Pro59=) c.212C= (p.Pro71=) | |
| 11 | g.71444042G>T | CA381696216 | DHCR7 | c.272C>A (p.Pro91His) c.98C>A (p.Pro33His) n.549C>A c.-314C>A (n.-314C>A) c.176C>A (p.Pro59His) c.212C>A (p.Pro71His) | |
| 11 | g.71444043G>A | CA381696218 | DHCR7 | c.271C>T (p.Pro91Ser) c.97C>T (p.Pro33Ser) n.548C>T c.-315C>T (n.-315C>T) c.175C>T (p.Pro59Ser) c.211C>T (p.Pro71Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444043G>C | CA381696221 | DHCR7 | c.271C>G (p.Pro91Ala) c.97C>G (p.Pro33Ala) n.548C>G c.-315C>G (n.-315C>G) c.175C>G (p.Pro59Ala) c.211C>G (p.Pro71Ala) | |
| 11 | g.71444043G= | CA1981491033 | DHCR7 | c.271C= (p.Pro91=) c.97C= (p.Pro33=) n.548C= c.-315C= (n.-315C=) c.175C= (p.Pro59=) c.211C= (p.Pro71=) | |
| 11 | g.71444043G>T | CA381696220 | DHCR7 | c.271C>A (p.Pro91Thr) c.97C>A (p.Pro33Thr) n.548C>A c.-315C>A (n.-315C>A) c.175C>A (p.Pro59Thr) c.211C>A (p.Pro71Thr) | |
| 11 | g.71444044T>A | CA475520258 | DHCR7 | c.270A>T (p.Pro90=) c.96A>T (p.Pro32=) n.547A>T c.-316A>T (n.-316A>T) c.174A>T (p.Pro58=) c.210A>T (p.Pro70=) | |
| 11 | g.71444044T>C | CA475520261 | DHCR7 | c.270A>G (p.Pro90=) c.96A>G (p.Pro32=) n.547A>G c.-316A>G (n.-316A>G) c.174A>G (p.Pro58=) c.210A>G (p.Pro70=) | ClinVar dbSNP |
| 11 | g.71444044T>G | CA475520264 | DHCR7 | c.270A>C (p.Pro90=) c.96A>C (p.Pro32=) n.547A>C c.-316A>C (n.-316A>C) c.174A>C (p.Pro58=) c.210A>C (p.Pro70=) | |
| 11 | g.71444044T= | CA1981491034 | DHCR7 | c.270A= (p.Pro90=) c.96A= (p.Pro32=) n.547A= c.-316A= (n.-316A=) c.174A= (p.Pro58=) c.210A= (p.Pro70=) | |
| 11 | g.71444045G>A | CA381696223 | DHCR7 | c.269C>T (p.Pro90Leu) c.95C>T (p.Pro32Leu) n.546C>T c.-317C>T (n.-317C>T) c.173C>T (p.Pro58Leu) c.209C>T (p.Pro70Leu) | |
| 11 | g.71444045G>C | CA381696225 | DHCR7 | c.269C>G (p.Pro90Arg) c.95C>G (p.Pro32Arg) n.546C>G c.-317C>G (n.-317C>G) c.173C>G (p.Pro58Arg) c.209C>G (p.Pro70Arg) | |
| 11 | g.71444045G>T | CA381696227 | DHCR7 | c.269C>A (p.Pro90Gln) c.95C>A (p.Pro32Gln) n.546C>A c.-317C>A (n.-317C>A) c.173C>A (p.Pro58Gln) c.209C>A (p.Pro70Gln) | |
| 11 | g.71444046G>A | CA6162649 | DHCR7 | c.268C>T (p.Pro90Ser) c.94C>T (p.Pro32Ser) n.545C>T c.-318C>T (n.-318C>T) c.172C>T (p.Pro58Ser) c.208C>T (p.Pro70Ser) | dbSNP ExAC gnomAD v2 |
| 11 | g.71444046G>C | CA381696230 | DHCR7 | c.268C>G (p.Pro90Ala) c.94C>G (p.Pro32Ala) n.545C>G c.-318C>G (n.-318C>G) c.172C>G (p.Pro58Ala) c.208C>G (p.Pro70Ala) | |
| 11 | g.71444046G= | CA1981491035 | DHCR7 | c.268C= (p.Pro90=) c.94C= (p.Pro32=) n.545C= c.-318C= (n.-318C=) c.172C= (p.Pro58=) c.208C= (p.Pro70=) | |
| 11 | g.71444046G>T | CA381696234 | DHCR7 | c.268C>A (p.Pro90Thr) c.94C>A (p.Pro32Thr) n.545C>A c.-318C>A (n.-318C>A) c.172C>A (p.Pro58Thr) c.208C>A (p.Pro70Thr) | |
| 11 | g.71444047A= | CA1981491036 | DHCR7 | c.267T= (p.Thr89=) c.93T= (p.Thr31=) n.544T= c.-319T= (n.-319T=) c.171T= (p.Thr57=) c.207T= (p.Thr69=) | |
| 11 | g.71444047A>C | CA475520277 | DHCR7 | c.267T>G (p.Thr89=) c.93T>G (p.Thr31=) n.544T>G c.-319T>G (n.-319T>G) c.171T>G (p.Thr57=) c.207T>G (p.Thr69=) | gnomAD v4 |
| 11 | g.71444047A>G | CA6162650 | DHCR7 | c.267T>C (p.Thr89=) c.93T>C (p.Thr31=) n.544T>C c.-319T>C (n.-319T>C) c.171T>C (p.Thr57=) c.207T>C (p.Thr69=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444047A>T | CA475520280 | DHCR7 | c.267T>A (p.Thr89=) c.93T>A (p.Thr31=) n.544T>A c.-319T>A (n.-319T>A) c.171T>A (p.Thr57=) c.207T>A (p.Thr69=) | dbSNP |
| 11 | g.71444048del | CA2697548793 | DHCR7 | c.266del (p.Thr89IlefsTer4) c.92del (p.Thr31IlefsTer4) n.543del c.-320del (n.-320del) c.170del (p.Thr57IlefsTer4) c.266del (p.Thr89IlefsTer?) c.206del (p.Thr69IlefsTer4) | ClinVar |
| 11 | g.71444048G>A | CA381696237 | DHCR7 | c.266C>T (p.Thr89Ile) c.92C>T (p.Thr31Ile) n.543C>T c.-320C>T (n.-320C>T) c.170C>T (p.Thr57Ile) c.206C>T (p.Thr69Ile) | |
| 11 | g.71444048G>C | CA381696238 | DHCR7 | c.266C>G (p.Thr89Ser) c.92C>G (p.Thr31Ser) n.543C>G c.-320C>G (n.-320C>G) c.170C>G (p.Thr57Ser) c.206C>G (p.Thr69Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71444048G= | CA1981491037 | DHCR7 | c.266C= (p.Thr89=) c.92C= (p.Thr31=) n.543C= c.-320C= (n.-320C=) c.170C= (p.Thr57=) c.206C= (p.Thr69=) | |
| 11 | g.71444048G>T | CA381696240 | DHCR7 | c.266C>A (p.Thr89Asn) c.92C>A (p.Thr31Asn) n.543C>A c.-320C>A (n.-320C>A) c.170C>A (p.Thr57Asn) c.206C>A (p.Thr69Asn) | |
| 11 | g.71444049T>A | CA224280811 | DHCR7 | c.265A>T (p.Thr89Ser) c.91A>T (p.Thr31Ser) n.542A>T c.-321A>T (n.-321A>T) c.169A>T (p.Thr57Ser) c.205A>T (p.Thr69Ser) | dbSNP |
| 11 | g.71444049T>C | CA224280813 | DHCR7 | c.265A>G (p.Thr89Ala) c.91A>G (p.Thr31Ala) n.542A>G c.-321A>G (n.-321A>G) c.169A>G (p.Thr57Ala) c.205A>G (p.Thr69Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71444049T>G | CA381696243 | DHCR7 | c.265A>C (p.Thr89Pro) c.91A>C (p.Thr31Pro) n.542A>C c.-321A>C (n.-321A>C) c.169A>C (p.Thr57Pro) c.205A>C (p.Thr69Pro) | |
| 11 | g.71444049T= | CA1981491038 | DHCR7 | c.265A= (p.Thr89=) c.91A= (p.Thr31=) n.542A= c.-321A= (n.-321A=) c.169A= (p.Thr57=) c.205A= (p.Thr69=) | |
| 11 | g.71444050C>A | CA381696248 | DHCR7 | c.264G>T (p.Lys88Asn) c.90G>T (p.Lys30Asn) n.541G>T c.-322G>T (n.-322G>T) c.168G>T (p.Lys56Asn) c.204G>T (p.Lys68Asn) | |
| 11 | g.71444050C>G | CA381696250 | DHCR7 | c.264G>C (p.Lys88Asn) c.90G>C (p.Lys30Asn) n.541G>C c.-322G>C (n.-322G>C) c.168G>C (p.Lys56Asn) c.204G>C (p.Lys68Asn) | COSMIC COSMIC |
| 11 | g.71444050C>T | CA475520307 | DHCR7 | c.264G>A (p.Lys88=) c.90G>A (p.Lys30=) n.541G>A c.-322G>A (n.-322G>A) c.168G>A (p.Lys56=) c.204G>A (p.Lys68=) | |
| 11 | g.71444051T>A | CA381696251 | DHCR7 | c.263A>T (p.Lys88Met) c.89A>T (p.Lys30Met) n.540A>T c.-323A>T (n.-323A>T) c.167A>T (p.Lys56Met) c.203A>T (p.Lys68Met) | |
| 11 | g.71444051T>C | CA381696253 | DHCR7 | c.263A>G (p.Lys88Arg) c.89A>G (p.Lys30Arg) n.540A>G c.-323A>G (n.-323A>G) c.167A>G (p.Lys56Arg) c.203A>G (p.Lys68Arg) | COSMIC COSMIC |
| 11 | g.71444051T>G | CA381696254 | DHCR7 | c.263A>C (p.Lys88Thr) c.89A>C (p.Lys30Thr) n.540A>C c.-323A>C (n.-323A>C) c.167A>C (p.Lys56Thr) c.203A>C (p.Lys68Thr) | |
| 11 | g.71444052T>A | CA381696259 | DHCR7 | c.262A>T (p.Lys88Ter) c.88A>T (p.Lys30Ter) n.539A>T c.-324A>T (n.-324A>T) c.166A>T (p.Lys56Ter) c.202A>T (p.Lys68Ter) | |
| 11 | g.71444052T>C | CA381696258 | DHCR7 | c.262A>G (p.Lys88Glu) c.88A>G (p.Lys30Glu) n.539A>G c.-324A>G (n.-324A>G) c.166A>G (p.Lys56Glu) c.202A>G (p.Lys68Glu) | gnomAD v4 |
| 11 | g.71444052T>G | CA381696257 | DHCR7 | c.262A>C (p.Lys88Gln) c.88A>C (p.Lys30Gln) n.539A>C c.-324A>C (n.-324A>C) c.166A>C (p.Lys56Gln) c.202A>C (p.Lys68Gln) | |
| 11 | g.71444053G>A | CA475520320 | DHCR7 | c.261C>T (p.Ala87=) c.87C>T (p.Ala29=) n.538C>T c.-325C>T (n.-325C>T) c.165C>T (p.Ala55=) c.201C>T (p.Ala67=) | |
| 11 | g.71444053G>C | CA475520322 | DHCR7 | c.261C>G (p.Ala87=) c.87C>G (p.Ala29=) n.538C>G c.-325C>G (n.-325C>G) c.165C>G (p.Ala55=) c.201C>G (p.Ala67=) |