WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149038376C>A | CA361672691 | SH3TC2 | c.810G>T c.920G>T (p.Trp307Leu) c.182G>T (p.Trp61Leu) c.*178G>T (n.*178G>T) n.387G>T c.320G>T (p.Trp107Leu) c.*700G>T (n.*700G>T) c.899G>T (p.Trp300Leu) | |
| 5 | g.149038376C= | CA1590317323 | SH3TC2 | c.810G= c.920G= (p.Trp307=) c.182G= (p.Trp61=) c.*178G= (n.*178G=) n.387G= c.320G= (p.Trp107=) c.*700G= (n.*700G=) c.899G= (p.Trp300=) | |
| 5 | g.149038376C>G | CA361672693 | SH3TC2 | c.810G>C c.920G>C (p.Trp307Ser) c.182G>C (p.Trp61Ser) c.*178G>C (n.*178G>C) n.387G>C c.320G>C (p.Trp107Ser) c.*700G>C (n.*700G>C) c.899G>C (p.Trp300Ser) | |
| 5 | g.149038376C>T | CA342391 | SH3TC2 | c.810G>A c.920G>A (p.Trp307Ter) c.182G>A (p.Trp61Ter) c.*178G>A (n.*178G>A) n.387G>A c.320G>A (p.Trp107Ter) c.*700G>A (n.*700G>A) c.899G>A (p.Trp300Ter) | ClinVar dbSNP |
| 5 | g.149038377A= | CA1590317324 | SH3TC2 | c.809T= c.919T= (p.Trp307=) c.181T= (p.Trp61=) c.*177T= (n.*177T=) n.386T= c.319T= (p.Trp107=) c.*699T= (n.*699T=) c.898T= (p.Trp300=) | |
| 5 | g.149038377A>C | CA361672696 | SH3TC2 | c.809T>G c.919T>G (p.Trp307Gly) c.181T>G (p.Trp61Gly) c.*177T>G (n.*177T>G) n.386T>G c.319T>G (p.Trp107Gly) c.*699T>G (n.*699T>G) c.898T>G (p.Trp300Gly) | |
| 5 | g.149038377A>G | CA128994923 | SH3TC2 | c.809T>C c.919T>C (p.Trp307Arg) c.181T>C (p.Trp61Arg) c.*177T>C (n.*177T>C) n.386T>C c.319T>C (p.Trp107Arg) c.*699T>C (n.*699T>C) c.898T>C (p.Trp300Arg) | dbSNP |
| 5 | g.149038377A>T | CA361672700 | SH3TC2 | c.809T>A c.919T>A (p.Trp307Arg) c.181T>A (p.Trp61Arg) c.*177T>A (n.*177T>A) n.386T>A c.319T>A (p.Trp107Arg) c.*699T>A (n.*699T>A) c.898T>A (p.Trp300Arg) | |
| 5 | g.149038378C>A | CA361672702 | SH3TC2 | c.808G>T c.918G>T (p.Gln306His) c.180G>T (p.Gln60His) c.*176G>T (n.*176G>T) n.385G>T c.318G>T (p.Gln106His) c.*698G>T (n.*698G>T) c.897G>T (p.Gln299His) | |
| 5 | g.149038378C>G | CA361672703 | SH3TC2 | c.808G>C c.918G>C (p.Gln306His) c.180G>C (p.Gln60His) c.*176G>C (n.*176G>C) n.385G>C c.318G>C (p.Gln106His) c.*698G>C (n.*698G>C) c.897G>C (p.Gln299His) | |
| 5 | g.149038378C>T | CA447109642 | SH3TC2 | c.808G>A c.918G>A (p.Gln306=) c.180G>A (p.Gln60=) c.*176G>A (n.*176G>A) n.385G>A c.318G>A (p.Gln106=) c.*698G>A (n.*698G>A) c.897G>A (p.Gln299=) | gnomAD v4 |
| 5 | g.149038379T>A | CA361672704 | SH3TC2 | c.807A>T c.917A>T (p.Gln306Leu) c.179A>T (p.Gln60Leu) c.*175A>T (n.*175A>T) n.384A>T c.317A>T (p.Gln106Leu) c.*697A>T (n.*697A>T) c.896A>T (p.Gln299Leu) | |
| 5 | g.149038379T>C | CA361672705 | SH3TC2 | c.807A>G c.917A>G (p.Gln306Arg) c.179A>G (p.Gln60Arg) c.*175A>G (n.*175A>G) n.384A>G c.317A>G (p.Gln106Arg) c.*697A>G (n.*697A>G) c.896A>G (p.Gln299Arg) | gnomAD v4 |
| 5 | g.149038379T>G | CA361672706 | SH3TC2 | c.807A>C c.917A>C (p.Gln306Pro) c.179A>C (p.Gln60Pro) c.*175A>C (n.*175A>C) n.384A>C c.317A>C (p.Gln106Pro) c.*697A>C (n.*697A>C) c.896A>C (p.Gln299Pro) | |
| 5 | g.149038380G>A | CA361672714 | SH3TC2 | c.806C>T c.916C>T (p.Gln306Ter) c.178C>T (p.Gln60Ter) c.*174C>T (n.*174C>T) n.383C>T c.316C>T (p.Gln106Ter) c.*696C>T (n.*696C>T) c.895C>T (p.Gln299Ter) | COSMIC COSMIC |
| 5 | g.149038380G>C | CA361672712 | SH3TC2 | c.806C>G c.916C>G (p.Gln306Glu) c.178C>G (p.Gln60Glu) c.*174C>G (n.*174C>G) n.383C>G c.316C>G (p.Gln106Glu) c.*696C>G (n.*696C>G) c.895C>G (p.Gln299Glu) | |
| 5 | g.149038380G>T | CA361672710 | SH3TC2 | c.806C>A c.916C>A (p.Gln306Lys) c.178C>A (p.Gln60Lys) c.*174C>A (n.*174C>A) n.383C>A c.316C>A (p.Gln106Lys) c.*696C>A (n.*696C>A) c.895C>A (p.Gln299Lys) | |
| 5 | g.149038381A>C | CA447109646 | SH3TC2 | c.805T>G c.915T>G (p.Leu305=) c.177T>G (p.Leu59=) c.*173T>G (n.*173T>G) n.382T>G c.315T>G (p.Leu105=) c.*695T>G (n.*695T>G) c.894T>G (p.Leu298=) | |
| 5 | g.149038381A>G | CA447109648 | SH3TC2 | c.805T>C c.915T>C (p.Leu305=) c.177T>C (p.Leu59=) c.*173T>C (n.*173T>C) n.382T>C c.315T>C (p.Leu105=) c.*695T>C (n.*695T>C) c.894T>C (p.Leu298=) | |
| 5 | g.149038381A>T | CA447109656 | SH3TC2 | c.805T>A c.915T>A (p.Leu305=) c.177T>A (p.Leu59=) c.*173T>A (n.*173T>A) n.382T>A c.315T>A (p.Leu105=) c.*695T>A (n.*695T>A) c.894T>A (p.Leu298=) | |
| 5 | g.149038382A= | CA1590317325 | SH3TC2 | c.804T= c.914T= (p.Leu305=) c.176T= (p.Leu59=) c.*172T= (n.*172T=) n.381T= c.314T= (p.Leu105=) c.*694T= (n.*694T=) c.893T= (p.Leu298=) | |
| 5 | g.149038382A>C | CA361672715 | SH3TC2 | c.804T>G c.914T>G (p.Leu305Arg) c.176T>G (p.Leu59Arg) c.*172T>G (n.*172T>G) n.381T>G c.314T>G (p.Leu105Arg) c.*694T>G (n.*694T>G) c.893T>G (p.Leu298Arg) | |
| 5 | g.149038382A>G | CA361672717 | SH3TC2 | c.804T>C c.914T>C (p.Leu305Pro) c.176T>C (p.Leu59Pro) c.*172T>C (n.*172T>C) n.381T>C c.314T>C (p.Leu105Pro) c.*694T>C (n.*694T>C) c.893T>C (p.Leu298Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038382A>T | CA361672716 | SH3TC2 | c.804T>A c.914T>A (p.Leu305His) c.176T>A (p.Leu59His) c.*172T>A (n.*172T>A) n.381T>A c.314T>A (p.Leu105His) c.*694T>A (n.*694T>A) c.893T>A (p.Leu298His) | |
| 5 | g.149038383G>A | CA361672720 | SH3TC2 | c.803C>T c.913C>T (p.Leu305Phe) c.175C>T (p.Leu59Phe) c.*171C>T (n.*171C>T) n.380C>T c.313C>T (p.Leu105Phe) c.*693C>T (n.*693C>T) c.892C>T (p.Leu298Phe) | |
| 5 | g.149038383G>C | CA361672722 | SH3TC2 | c.803C>G c.913C>G (p.Leu305Val) c.175C>G (p.Leu59Val) c.*171C>G (n.*171C>G) n.380C>G c.313C>G (p.Leu105Val) c.*693C>G (n.*693C>G) c.892C>G (p.Leu298Val) | |
| 5 | g.149038383G>T | CA361672724 | SH3TC2 | c.803C>A c.913C>A (p.Leu305Ile) c.175C>A (p.Leu59Ile) c.*171C>A (n.*171C>A) n.380C>A c.313C>A (p.Leu105Ile) c.*693C>A (n.*693C>A) c.892C>A (p.Leu298Ile) | |
| 5 | g.149038384C>A | CA447109666 | SH3TC2 | c.802G>T c.912G>T (p.Gly304=) c.174G>T (p.Gly58=) c.*170G>T (n.*170G>T) n.379G>T c.312G>T (p.Gly104=) c.*692G>T (n.*692G>T) c.891G>T (p.Gly297=) | |
| 5 | g.149038384C= | CA1590317326 | SH3TC2 | c.802G= c.912G= (p.Gly304=) c.174G= (p.Gly58=) c.*170G= (n.*170G=) n.379G= c.312G= (p.Gly104=) c.*692G= (n.*692G=) c.891G= (p.Gly297=) | |
| 5 | g.149038384C>G | CA3499349 | SH3TC2 | c.802G>C c.912G>C (p.Gly304=) c.174G>C (p.Gly58=) c.*170G>C (n.*170G>C) n.379G>C c.312G>C (p.Gly104=) c.*692G>C (n.*692G>C) c.891G>C (p.Gly297=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038384C>T | CA447109668 | SH3TC2 | c.802G>A c.912G>A (p.Gly304=) c.174G>A (p.Gly58=) c.*170G>A (n.*170G>A) n.379G>A c.312G>A (p.Gly104=) c.*692G>A (n.*692G>A) c.891G>A (p.Gly297=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149038385C>A | CA361672729 | SH3TC2 | c.801G>T c.911G>T (p.Gly304Val) c.173G>T (p.Gly58Val) c.*169G>T (n.*169G>T) n.378G>T c.311G>T (p.Gly104Val) c.*691G>T (n.*691G>T) c.890G>T (p.Gly297Val) | |
| 5 | g.149038385C>G | CA361672730 | SH3TC2 | c.801G>C c.911G>C (p.Gly304Ala) c.173G>C (p.Gly58Ala) c.*169G>C (n.*169G>C) n.378G>C c.311G>C (p.Gly104Ala) c.*691G>C (n.*691G>C) c.890G>C (p.Gly297Ala) | |
| 5 | g.149038385C>T | CA361672731 | SH3TC2 | c.801G>A c.911G>A (p.Gly304Glu) c.173G>A (p.Gly58Glu) c.*169G>A (n.*169G>A) n.378G>A c.311G>A (p.Gly104Glu) c.*691G>A (n.*691G>A) c.890G>A (p.Gly297Glu) | |
| 5 | g.149038386C>A | CA361672733 | SH3TC2 | c.800G>T c.910G>T (p.Gly304Trp) c.172G>T (p.Gly58Trp) c.*168G>T (n.*168G>T) n.377G>T c.310G>T (p.Gly104Trp) c.*690G>T (n.*690G>T) c.889G>T (p.Gly297Trp) | |
| 5 | g.149038386C= | CA1590317327 | SH3TC2 | c.800G= c.910G= (p.Gly304=) c.172G= (p.Gly58=) c.*168G= (n.*168G=) n.377G= c.310G= (p.Gly104=) c.*690G= (n.*690G=) c.889G= (p.Gly297=) | |
| 5 | g.149038386C>G | CA361672735 | SH3TC2 | c.800G>C c.910G>C (p.Gly304Arg) c.172G>C (p.Gly58Arg) c.*168G>C (n.*168G>C) n.377G>C c.310G>C (p.Gly104Arg) c.*690G>C (n.*690G>C) c.889G>C (p.Gly297Arg) | |
| 5 | g.149038386C>T | CA361672737 | SH3TC2 | c.800G>A c.910G>A (p.Gly304Arg) c.172G>A (p.Gly58Arg) c.*168G>A (n.*168G>A) n.377G>A c.310G>A (p.Gly104Arg) c.*690G>A (n.*690G>A) c.889G>A (p.Gly297Arg) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149038387A>C | CA447109677 | SH3TC2 | c.799T>G c.909T>G (p.Pro303=) c.171T>G (p.Pro57=) c.*167T>G (n.*167T>G) n.376T>G c.309T>G (p.Pro103=) c.*689T>G (n.*689T>G) c.888T>G (p.Pro296=) | |
| 5 | g.149038387A>G | CA447109678 | SH3TC2 | c.799T>C c.909T>C (p.Pro303=) c.171T>C (p.Pro57=) c.*167T>C (n.*167T>C) n.376T>C c.309T>C (p.Pro103=) c.*689T>C (n.*689T>C) c.888T>C (p.Pro296=) | |
| 5 | g.149038387A>T | CA447109680 | SH3TC2 | c.799T>A c.909T>A (p.Pro303=) c.171T>A (p.Pro57=) c.*167T>A (n.*167T>A) n.376T>A c.309T>A (p.Pro103=) c.*689T>A (n.*689T>A) c.888T>A (p.Pro296=) | |
| 5 | g.149038388G>A | CA361672738 | SH3TC2 | c.798C>T c.908C>T (p.Pro303Leu) c.170C>T (p.Pro57Leu) c.*166C>T (n.*166C>T) n.375C>T c.308C>T (p.Pro103Leu) c.*688C>T (n.*688C>T) c.887C>T (p.Pro296Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149038388G>C | CA361672740 | SH3TC2 | c.798C>G c.908C>G (p.Pro303Arg) c.170C>G (p.Pro57Arg) c.*166C>G (n.*166C>G) n.375C>G c.308C>G (p.Pro103Arg) c.*688C>G (n.*688C>G) c.887C>G (p.Pro296Arg) | |
| 5 | g.149038388G= | CA1590317328 | SH3TC2 | c.798C= c.908C= (p.Pro303=) c.170C= (p.Pro57=) c.*166C= (n.*166C=) n.375C= c.308C= (p.Pro103=) c.*688C= (n.*688C=) c.887C= (p.Pro296=) | |
| 5 | g.149038388G>T | CA3499350 | SH3TC2 | c.798C>A c.908C>A (p.Pro303His) c.170C>A (p.Pro57His) c.*166C>A (n.*166C>A) n.375C>A c.308C>A (p.Pro103His) c.*688C>A (n.*688C>A) c.887C>A (p.Pro296His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038389G>A | CA361672741 | SH3TC2 | c.797C>T c.907C>T (p.Pro303Ser) c.169C>T (p.Pro57Ser) c.*165C>T (n.*165C>T) n.374C>T c.307C>T (p.Pro103Ser) c.*687C>T (n.*687C>T) c.886C>T (p.Pro296Ser) | |
| 5 | g.149038389G>C | CA361672748 | SH3TC2 | c.797C>G c.907C>G (p.Pro303Ala) c.169C>G (p.Pro57Ala) c.*165C>G (n.*165C>G) n.374C>G c.307C>G (p.Pro103Ala) c.*687C>G (n.*687C>G) c.886C>G (p.Pro296Ala) | |
| 5 | g.149038389G>T | CA361672746 | SH3TC2 | c.797C>A c.907C>A (p.Pro303Thr) c.169C>A (p.Pro57Thr) c.*165C>A (n.*165C>A) n.374C>A c.307C>A (p.Pro103Thr) c.*687C>A (n.*687C>A) c.886C>A (p.Pro296Thr) | |
| 5 | g.149038390T>A | CA447109692 | SH3TC2 | c.796A>T c.906A>T (p.Ile302=) c.168A>T (p.Ile56=) c.*164A>T (n.*164A>T) n.373A>T c.306A>T (p.Ile102=) c.*686A>T (n.*686A>T) c.885A>T (p.Ile295=) | |
| 5 | g.149038390T>C | CA361672750 | SH3TC2 | c.796A>G c.906A>G (p.Ile302Met) c.168A>G (p.Ile56Met) c.*164A>G (n.*164A>G) n.373A>G c.306A>G (p.Ile102Met) c.*686A>G (n.*686A>G) c.885A>G (p.Ile295Met) |