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 |
|---|---|---|---|---|---|
| 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) | |
| 5 | g.149038390T>G | CA447109696 | SH3TC2 | c.796A>C c.906A>C (p.Ile302=) c.168A>C (p.Ile56=) c.*164A>C (n.*164A>C) n.373A>C c.306A>C (p.Ile102=) c.*686A>C (n.*686A>C) c.885A>C (p.Ile295=) | |
| 5 | g.149038391A>C | CA361672753 | SH3TC2 | c.795T>G c.905T>G (p.Ile302Arg) c.167T>G (p.Ile56Arg) c.*163T>G (n.*163T>G) n.372T>G c.305T>G (p.Ile102Arg) c.*685T>G (n.*685T>G) c.884T>G (p.Ile295Arg) | gnomAD v4 |
| 5 | g.149038391A>G | CA361672754 | SH3TC2 | c.795T>C c.905T>C (p.Ile302Thr) c.167T>C (p.Ile56Thr) c.*163T>C (n.*163T>C) n.372T>C c.305T>C (p.Ile102Thr) c.*685T>C (n.*685T>C) c.884T>C (p.Ile295Thr) | gnomAD v4 |
| 5 | g.149038391A>T | CA361672755 | SH3TC2 | c.795T>A c.905T>A (p.Ile302Lys) c.167T>A (p.Ile56Lys) c.*163T>A (n.*163T>A) n.372T>A c.305T>A (p.Ile102Lys) c.*685T>A (n.*685T>A) c.884T>A (p.Ile295Lys) | |
| 5 | g.149038392T>A | CA361672757 | SH3TC2 | c.794A>T c.904A>T (p.Ile302Leu) c.166A>T (p.Ile56Leu) c.*162A>T (n.*162A>T) n.371A>T c.304A>T (p.Ile102Leu) c.*684A>T (n.*684A>T) c.883A>T (p.Ile295Leu) | |
| 5 | g.149038392T>C | CA3499351 | SH3TC2 | c.794A>G c.904A>G (p.Ile302Val) c.166A>G (p.Ile56Val) c.*162A>G (n.*162A>G) n.371A>G c.304A>G (p.Ile102Val) c.*684A>G (n.*684A>G) c.883A>G (p.Ile295Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038392T>G | CA361672758 | SH3TC2 | c.794A>C c.904A>C (p.Ile302Leu) c.166A>C (p.Ile56Leu) c.*162A>C (n.*162A>C) n.371A>C c.304A>C (p.Ile102Leu) c.*684A>C (n.*684A>C) c.883A>C (p.Ile295Leu) | |
| 5 | g.149038392T= | CA1590317329 | SH3TC2 | c.794A= c.904A= (p.Ile302=) c.166A= (p.Ile56=) c.*162A= (n.*162A=) n.371A= c.304A= (p.Ile102=) c.*684A= (n.*684A=) c.883A= (p.Ile295=) | |
| 5 | g.149038393G>A | CA447109710 | SH3TC2 | c.793C>T c.903C>T (p.Val301=) c.165C>T (p.Val55=) c.*161C>T (n.*161C>T) n.370C>T c.303C>T (p.Val101=) c.*683C>T (n.*683C>T) c.882C>T (p.Val294=) | |
| 5 | g.149038393G>C | CA447109713 | SH3TC2 | c.793C>G c.903C>G (p.Val301=) c.165C>G (p.Val55=) c.*161C>G (n.*161C>G) n.370C>G c.303C>G (p.Val101=) c.*683C>G (n.*683C>G) c.882C>G (p.Val294=) | |
| 5 | g.149038393G>T | CA447109716 | SH3TC2 | c.793C>A c.903C>A (p.Val301=) c.165C>A (p.Val55=) c.*161C>A (n.*161C>A) n.370C>A c.303C>A (p.Val101=) c.*683C>A (n.*683C>A) c.882C>A (p.Val294=) | |
| 5 | g.149038394A= | CA1590317330 | SH3TC2 | c.792T= c.902T= (p.Val301=) c.164T= (p.Val55=) c.*160T= (n.*160T=) n.369T= c.302T= (p.Val101=) c.*682T= (n.*682T=) c.881T= (p.Val294=) | |
| 5 | g.149038394A>C | CA361672762 | SH3TC2 | c.792T>G c.902T>G (p.Val301Gly) c.164T>G (p.Val55Gly) c.*160T>G (n.*160T>G) n.369T>G c.302T>G (p.Val101Gly) c.*682T>G (n.*682T>G) c.881T>G (p.Val294Gly) | dbSNP |
| 5 | g.149038394A>G | CA361672764 | SH3TC2 | c.792T>C c.902T>C (p.Val301Ala) c.164T>C (p.Val55Ala) c.*160T>C (n.*160T>C) n.369T>C c.302T>C (p.Val101Ala) c.*682T>C (n.*682T>C) c.881T>C (p.Val294Ala) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149038394A>T | CA361672766 | SH3TC2 | c.792T>A c.902T>A (p.Val301Asp) c.164T>A (p.Val55Asp) c.*160T>A (n.*160T>A) n.369T>A c.302T>A (p.Val101Asp) c.*682T>A (n.*682T>A) c.881T>A (p.Val294Asp) | |
| 5 | g.149038395C>A | CA361672773 | SH3TC2 | c.791G>T c.901G>T (p.Val301Phe) c.163G>T (p.Val55Phe) c.*159G>T (n.*159G>T) n.368G>T c.301G>T (p.Val101Phe) c.*681G>T (n.*681G>T) c.880G>T (p.Val294Phe) | |
| 5 | g.149038395C>G | CA361672771 | SH3TC2 | c.791G>C c.901G>C (p.Val301Leu) c.163G>C (p.Val55Leu) c.*159G>C (n.*159G>C) n.368G>C c.301G>C (p.Val101Leu) c.*681G>C (n.*681G>C) c.880G>C (p.Val294Leu) | |
| 5 | g.149038395C>T | CA361672769 | SH3TC2 | c.791G>A c.901G>A (p.Val301Ile) c.163G>A (p.Val55Ile) c.*159G>A (n.*159G>A) n.368G>A c.301G>A (p.Val101Ile) c.*681G>A (n.*681G>A) c.880G>A (p.Val294Ile) | |
| 5 | g.149038396A= | CA1590317331 | SH3TC2 | c.790T= c.900T= (p.Phe300=) c.162T= (p.Phe54=) c.*158T= (n.*158T=) n.367T= c.300T= (p.Phe100=) c.*680T= (n.*680T=) c.879T= (p.Phe293=) | |
| 5 | g.149038396A>C | CA361672775 | SH3TC2 | c.790T>G c.900T>G (p.Phe300Leu) c.162T>G (p.Phe54Leu) c.*158T>G (n.*158T>G) n.367T>G c.300T>G (p.Phe100Leu) c.*680T>G (n.*680T>G) c.879T>G (p.Phe293Leu) | |
| 5 | g.149038396A>G | CA3499352 | SH3TC2 | c.790T>C c.900T>C (p.Phe300=) c.162T>C (p.Phe54=) c.*158T>C (n.*158T>C) n.367T>C c.300T>C (p.Phe100=) c.*680T>C (n.*680T>C) c.879T>C (p.Phe293=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038396A>T | CA361672782 | SH3TC2 | c.790T>A c.900T>A (p.Phe300Leu) c.162T>A (p.Phe54Leu) c.*158T>A (n.*158T>A) n.367T>A c.300T>A (p.Phe100Leu) c.*680T>A (n.*680T>A) c.879T>A (p.Phe293Leu) | |
| 5 | g.149038397A>C | CA361672785 | SH3TC2 | c.789T>G c.899T>G (p.Phe300Cys) c.161T>G (p.Phe54Cys) c.*157T>G (n.*157T>G) n.366T>G c.299T>G (p.Phe100Cys) c.*679T>G (n.*679T>G) c.878T>G (p.Phe293Cys) | |
| 5 | g.149038397A>G | CA361672788 | SH3TC2 | c.789T>C c.899T>C (p.Phe300Ser) c.161T>C (p.Phe54Ser) c.*157T>C (n.*157T>C) n.366T>C c.299T>C (p.Phe100Ser) c.*679T>C (n.*679T>C) c.878T>C (p.Phe293Ser) | gnomAD v4 |
| 5 | g.149038397A>T | CA361672790 | SH3TC2 | c.789T>A c.899T>A (p.Phe300Tyr) c.161T>A (p.Phe54Tyr) c.*157T>A (n.*157T>A) n.366T>A c.299T>A (p.Phe100Tyr) c.*679T>A (n.*679T>A) c.878T>A (p.Phe293Tyr) | |
| 5 | g.149038398A= | CA1590317332 | SH3TC2 | c.788T= c.898T= (p.Phe300=) c.160T= (p.Phe54=) c.*156T= (n.*156T=) n.365T= c.298T= (p.Phe100=) c.*678T= (n.*678T=) c.877T= (p.Phe293=) | |
| 5 | g.149038398A>C | CA361672793 | SH3TC2 | c.788T>G c.898T>G (p.Phe300Val) c.160T>G (p.Phe54Val) c.*156T>G (n.*156T>G) n.365T>G c.298T>G (p.Phe100Val) c.*678T>G (n.*678T>G) c.877T>G (p.Phe293Val) | |
| 5 | g.149038398A>G | CA361672795 | SH3TC2 | c.788T>C c.898T>C (p.Phe300Leu) c.160T>C (p.Phe54Leu) c.*156T>C (n.*156T>C) n.365T>C c.298T>C (p.Phe100Leu) c.*678T>C (n.*678T>C) c.877T>C (p.Phe293Leu) | dbSNP |
| 5 | g.149038398A>T | CA361672797 | SH3TC2 | c.788T>A c.898T>A (p.Phe300Ile) c.160T>A (p.Phe54Ile) c.*156T>A (n.*156T>A) n.365T>A c.298T>A (p.Phe100Ile) c.*678T>A (n.*678T>A) c.877T>A (p.Phe293Ile) | |
| 5 | g.149038399G>A | CA447109741 | SH3TC2 | c.787C>T c.897C>T (p.Gly299=) c.159C>T (p.Gly53=) c.*155C>T (n.*155C>T) n.364C>T c.297C>T (p.Gly99=) c.*677C>T (n.*677C>T) c.876C>T (p.Gly292=) | |
| 5 | g.149038399G>C | CA447109744 | SH3TC2 | c.787C>G c.897C>G (p.Gly299=) c.159C>G (p.Gly53=) c.*155C>G (n.*155C>G) n.364C>G c.297C>G (p.Gly99=) c.*677C>G (n.*677C>G) c.876C>G (p.Gly292=) | |
| 5 | g.149038399G>T | CA447109746 | SH3TC2 | c.787C>A c.897C>A (p.Gly299=) c.159C>A (p.Gly53=) c.*155C>A (n.*155C>A) n.364C>A c.297C>A (p.Gly99=) c.*677C>A (n.*677C>A) c.876C>A (p.Gly292=) | |
| 5 | g.149038400C>A | CA361672799 | SH3TC2 | c.786G>T c.896G>T (p.Gly299Val) c.158G>T (p.Gly53Val) c.*154G>T (n.*154G>T) n.363G>T c.296G>T (p.Gly99Val) c.*676G>T (n.*676G>T) c.875G>T (p.Gly292Val) | |
| 5 | g.149038400C= | CA1590317333 | SH3TC2 | c.786G= c.896G= (p.Gly299=) c.158G= (p.Gly53=) c.*154G= (n.*154G=) n.363G= c.296G= (p.Gly99=) c.*676G= (n.*676G=) c.875G= (p.Gly292=) | |
| 5 | g.149038400C>G | CA361672801 | SH3TC2 | c.786G>C c.896G>C (p.Gly299Ala) c.158G>C (p.Gly53Ala) c.*154G>C (n.*154G>C) n.363G>C c.296G>C (p.Gly99Ala) c.*676G>C (n.*676G>C) c.875G>C (p.Gly292Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038400C>T | CA361672804 | SH3TC2 | c.786G>A c.896G>A (p.Gly299Asp) c.158G>A (p.Gly53Asp) c.*154G>A (n.*154G>A) n.363G>A c.296G>A (p.Gly99Asp) c.*676G>A (n.*676G>A) c.875G>A (p.Gly292Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149038401C>A | CA361672811 | SH3TC2 | c.785G>T c.895G>T (p.Gly299Cys) c.157G>T (p.Gly53Cys) c.*153G>T (n.*153G>T) n.362G>T c.295G>T (p.Gly99Cys) c.*675G>T (n.*675G>T) c.874G>T (p.Gly292Cys) | |
| 5 | g.149038401C= | CA1590317334 | SH3TC2 | c.785G= c.895G= (p.Gly299=) c.157G= (p.Gly53=) c.*153G= (n.*153G=) n.362G= c.295G= (p.Gly99=) c.*675G= (n.*675G=) c.874G= (p.Gly292=) | |
| 5 | g.149038401C>G | CA361672809 | SH3TC2 | c.785G>C c.895G>C (p.Gly299Arg) c.157G>C (p.Gly53Arg) c.*153G>C (n.*153G>C) n.362G>C c.295G>C (p.Gly99Arg) c.*675G>C (n.*675G>C) c.874G>C (p.Gly292Arg) | |
| 5 | g.149038401C>T | CA361672807 | SH3TC2 | c.785G>A c.895G>A (p.Gly299Ser) c.157G>A (p.Gly53Ser) c.*153G>A (n.*153G>A) n.362G>A c.295G>A (p.Gly99Ser) c.*675G>A (n.*675G>A) c.874G>A (p.Gly292Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.149038402G>A | CA3499353 | SH3TC2 | c.784C>T c.894C>T (p.Ile298=) c.156C>T (p.Ile52=) c.*152C>T (n.*152C>T) n.361C>T c.294C>T (p.Ile98=) c.*674C>T (n.*674C>T) c.873C>T (p.Ile291=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038402G>C | CA361672815 | SH3TC2 | c.784C>G c.894C>G (p.Ile298Met) c.156C>G (p.Ile52Met) c.*152C>G (n.*152C>G) n.361C>G c.294C>G (p.Ile98Met) c.*674C>G (n.*674C>G) c.873C>G (p.Ile291Met) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149038402G= | CA1590317335 | SH3TC2 | c.784C= c.894C= (p.Ile298=) c.156C= (p.Ile52=) c.*152C= (n.*152C=) n.361C= c.294C= (p.Ile98=) c.*674C= (n.*674C=) c.873C= (p.Ile291=) | |
| 5 | g.149038402G>T | CA447109761 | SH3TC2 | c.784C>A c.894C>A (p.Ile298=) c.156C>A (p.Ile52=) c.*152C>A (n.*152C>A) n.361C>A c.294C>A (p.Ile98=) c.*674C>A (n.*674C>A) c.873C>A (p.Ile291=) | |
| 5 | g.149038403A>C | CA361672818 | SH3TC2 | c.783T>G c.893T>G (p.Ile298Ser) c.155T>G (p.Ile52Ser) c.*151T>G (n.*151T>G) n.360T>G c.293T>G (p.Ile98Ser) c.*673T>G (n.*673T>G) c.872T>G (p.Ile291Ser) | |
| 5 | g.149038403A>G | CA361672820 | SH3TC2 | c.783T>C c.893T>C (p.Ile298Thr) c.155T>C (p.Ile52Thr) c.*151T>C (n.*151T>C) n.360T>C c.293T>C (p.Ile98Thr) c.*673T>C (n.*673T>C) c.872T>C (p.Ile291Thr) | |
| 5 | g.149038403A>T | CA361672822 | SH3TC2 | c.783T>A c.893T>A (p.Ile298Asn) c.155T>A (p.Ile52Asn) c.*151T>A (n.*151T>A) n.360T>A c.293T>A (p.Ile98Asn) c.*673T>A (n.*673T>A) c.872T>A (p.Ile291Asn) | |
| 5 | g.149038404T>A | CA361672824 | SH3TC2 | c.782A>T c.892A>T (p.Ile298Phe) c.154A>T (p.Ile52Phe) c.*150A>T (n.*150A>T) n.359A>T c.292A>T (p.Ile98Phe) c.*672A>T (n.*672A>T) c.871A>T (p.Ile291Phe) | |
| 5 | g.149038404T>C | CA3499354 | SH3TC2 | c.782A>G c.892A>G (p.Ile298Val) c.154A>G (p.Ile52Val) c.*150A>G (n.*150A>G) n.359A>G c.292A>G (p.Ile98Val) c.*672A>G (n.*672A>G) c.871A>G (p.Ile291Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149038404T>G | CA361672827 | SH3TC2 | c.782A>C c.892A>C (p.Ile298Leu) c.154A>C (p.Ile52Leu) c.*150A>C (n.*150A>C) n.359A>C c.292A>C (p.Ile98Leu) c.*672A>C (n.*672A>C) c.871A>C (p.Ile291Leu) | gnomAD v4 |
| 5 | g.149038404T= | CA1590317336 | SH3TC2 | c.782A= c.892A= (p.Ile298=) c.154A= (p.Ile52=) c.*150A= (n.*150A=) n.359A= c.292A= (p.Ile98=) c.*672A= (n.*672A=) c.871A= (p.Ile291=) | |
| 5 | g.149038405G>A | CA447109776 | SH3TC2 | c.781C>T c.891C>T (p.Ile297=) c.153C>T (p.Ile51=) c.*149C>T (n.*149C>T) n.358C>T c.291C>T (p.Ile97=) c.*671C>T (n.*671C>T) c.870C>T (p.Ile290=) | |
| 5 | g.149038405G>C | CA361672830 | SH3TC2 | c.781C>G c.891C>G (p.Ile297Met) c.153C>G (p.Ile51Met) c.*149C>G (n.*149C>G) n.358C>G c.291C>G (p.Ile97Met) c.*671C>G (n.*671C>G) c.870C>G (p.Ile290Met) | dbSNP |
| 5 | g.149038405G= | CA1590317337 | SH3TC2 | c.781C= c.891C= (p.Ile297=) c.153C= (p.Ile51=) c.*149C= (n.*149C=) n.358C= c.291C= (p.Ile97=) c.*671C= (n.*671C=) c.870C= (p.Ile290=) | |
| 5 | g.149038405G>T | CA447109773 | SH3TC2 | c.781C>A c.891C>A (p.Ile297=) c.153C>A (p.Ile51=) c.*149C>A (n.*149C>A) n.358C>A c.291C>A (p.Ile97=) c.*671C>A (n.*671C>A) c.870C>A (p.Ile290=) | |
| 5 | g.149038406A= | CA1590317338 | SH3TC2 | c.780T= c.890T= (p.Ile297=) c.152T= (p.Ile51=) c.*148T= (n.*148T=) n.357T= c.290T= (p.Ile97=) c.*670T= (n.*670T=) c.869T= (p.Ile290=) | |
| 5 | g.149038406A>C | CA361672831 | SH3TC2 | c.780T>G c.890T>G (p.Ile297Ser) c.152T>G (p.Ile51Ser) c.*148T>G (n.*148T>G) n.357T>G c.290T>G (p.Ile97Ser) c.*670T>G (n.*670T>G) c.869T>G (p.Ile290Ser) | |
| 5 | g.149038406A>G | CA3499355 | SH3TC2 | c.780T>C c.890T>C (p.Ile297Thr) c.152T>C (p.Ile51Thr) c.*148T>C (n.*148T>C) n.357T>C c.290T>C (p.Ile97Thr) c.*670T>C (n.*670T>C) c.869T>C (p.Ile290Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038406A>T | CA361672835 | SH3TC2 | c.780T>A c.890T>A (p.Ile297Asn) c.152T>A (p.Ile51Asn) c.*148T>A (n.*148T>A) n.357T>A c.290T>A (p.Ile97Asn) c.*670T>A (n.*670T>A) c.869T>A (p.Ile290Asn) | |
| 5 | g.149038407T>A | CA361672841 | SH3TC2 | c.779A>T c.889A>T (p.Ile297Phe) c.151A>T (p.Ile51Phe) c.*147A>T (n.*147A>T) n.356A>T c.289A>T (p.Ile97Phe) c.*669A>T (n.*669A>T) c.868A>T (p.Ile290Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149038407T>C | CA3499356 | SH3TC2 | c.779A>G c.889A>G (p.Ile297Val) c.151A>G (p.Ile51Val) c.*147A>G (n.*147A>G) n.356A>G c.289A>G (p.Ile97Val) c.*669A>G (n.*669A>G) c.868A>G (p.Ile290Val) | dbSNP ExAC gnomAD v2 |
| 5 | g.149038407T>G | CA361672837 | SH3TC2 | c.779A>C c.889A>C (p.Ile297Leu) c.151A>C (p.Ile51Leu) c.*147A>C (n.*147A>C) n.356A>C c.289A>C (p.Ile97Leu) c.*669A>C (n.*669A>C) c.868A>C (p.Ile290Leu) | |
| 5 | g.149038407T= | CA1590317339 | SH3TC2 | c.779A= c.889A= (p.Ile297=) c.151A= (p.Ile51=) c.*147A= (n.*147A=) n.356A= c.289A= (p.Ile97=) c.*669A= (n.*669A=) c.868A= (p.Ile290=) | |
| 5 | g.149038409_149038410del | CA2768853425 | SH3TC2 | c.778_779del c.888_889del (p.Glu296AspfsTer?) c.150_151del (p.Glu50AspfsTer?) c.*146_*147del (n.*146_*147del) n.355_356del c.288_289del (p.Glu96AspfsTer?) c.*668_*669del (n.*668_*669del) c.867_868del (p.Glu289AspfsTer?) | |
| 5 | g.149038408C>A | CA361672843 | SH3TC2 | c.778G>T c.888G>T (p.Glu296Asp) c.150G>T (p.Glu50Asp) c.*146G>T (n.*146G>T) n.355G>T c.288G>T (p.Glu96Asp) c.*668G>T (n.*668G>T) c.867G>T (p.Glu289Asp) | COSMIC COSMIC |
| 5 | g.149038408C>G | CA361672845 | SH3TC2 | c.778G>C c.888G>C (p.Glu296Asp) c.150G>C (p.Glu50Asp) c.*146G>C (n.*146G>C) n.355G>C c.288G>C (p.Glu96Asp) c.*668G>C (n.*668G>C) c.867G>C (p.Glu289Asp) | |
| 5 | g.149038408C>T | CA447109786 | SH3TC2 | c.778G>A c.888G>A (p.Glu296=) c.150G>A (p.Glu50=) c.*146G>A (n.*146G>A) n.355G>A c.288G>A (p.Glu96=) c.*668G>A (n.*668G>A) c.867G>A (p.Glu289=) | gnomAD v4 |
| 5 | g.149038409T>A | CA361672847 | SH3TC2 | c.777A>T c.887A>T (p.Glu296Val) c.149A>T (p.Glu50Val) c.*145A>T (n.*145A>T) n.354A>T c.287A>T (p.Glu96Val) c.*667A>T (n.*667A>T) c.866A>T (p.Glu289Val) | |
| 5 | g.149038409T>C | CA361672851 | SH3TC2 | c.777A>G c.887A>G (p.Glu296Gly) c.149A>G (p.Glu50Gly) c.*145A>G (n.*145A>G) n.354A>G c.287A>G (p.Glu96Gly) c.*667A>G (n.*667A>G) c.866A>G (p.Glu289Gly) | gnomAD v4 |
| 5 | g.149038409T>G | CA361672850 | SH3TC2 | c.777A>C c.887A>C (p.Glu296Ala) c.149A>C (p.Glu50Ala) c.*145A>C (n.*145A>C) n.354A>C c.287A>C (p.Glu96Ala) c.*667A>C (n.*667A>C) c.866A>C (p.Glu289Ala) | |
| 5 | g.149038410C>A | CA361672852 | SH3TC2 | c.776G>T c.886G>T (p.Glu296Ter) c.148G>T (p.Glu50Ter) c.*144G>T (n.*144G>T) n.353G>T c.286G>T (p.Glu96Ter) c.*666G>T (n.*666G>T) c.865G>T (p.Glu289Ter) | |
| 5 | g.149038410C>G | CA361672856 | SH3TC2 | c.776G>C c.886G>C (p.Glu296Gln) c.148G>C (p.Glu50Gln) c.*144G>C (n.*144G>C) n.353G>C c.286G>C (p.Glu96Gln) c.*666G>C (n.*666G>C) c.865G>C (p.Glu289Gln) | |
| 5 | g.149038410C>T | CA361672854 | SH3TC2 | c.776G>A c.886G>A (p.Glu296Lys) c.148G>A (p.Glu50Lys) c.*144G>A (n.*144G>A) n.353G>A c.286G>A (p.Glu96Lys) c.*666G>A (n.*666G>A) c.865G>A (p.Glu289Lys) | |
| 5 | g.149038411A>C | CA361672859 | SH3TC2 | c.775T>G c.885T>G (p.Ile295Met) c.147T>G (p.Ile49Met) c.*143T>G (n.*143T>G) n.352T>G c.285T>G (p.Ile95Met) c.*665T>G (n.*665T>G) c.864T>G (p.Ile288Met) | gnomAD v4 |
| 5 | g.149038411A>G | CA447109804 | SH3TC2 | c.775T>C c.885T>C (p.Ile295=) c.147T>C (p.Ile49=) c.*143T>C (n.*143T>C) n.352T>C c.285T>C (p.Ile95=) c.*665T>C (n.*665T>C) c.864T>C (p.Ile288=) | |
| 5 | g.149038411A>T | CA447109815 | SH3TC2 | c.775T>A c.885T>A (p.Ile295=) c.147T>A (p.Ile49=) c.*143T>A (n.*143T>A) n.352T>A c.285T>A (p.Ile95=) c.*665T>A (n.*665T>A) c.864T>A (p.Ile288=) | |
| 5 | g.149038412A= | CA1590317340 | SH3TC2 | c.774T= c.884T= (p.Ile295=) c.146T= (p.Ile49=) c.*142T= (n.*142T=) n.351T= c.284T= (p.Ile95=) c.*664T= (n.*664T=) c.863T= (p.Ile288=) | |
| 5 | g.149038412A>C | CA361672866 | SH3TC2 | c.774T>G c.884T>G (p.Ile295Ser) c.146T>G (p.Ile49Ser) c.*142T>G (n.*142T>G) n.351T>G c.284T>G (p.Ile95Ser) c.*664T>G (n.*664T>G) c.863T>G (p.Ile288Ser) | |
| 5 | g.149038412A>G | CA361672862 | SH3TC2 | c.774T>C c.884T>C (p.Ile295Thr) c.146T>C (p.Ile49Thr) c.*142T>C (n.*142T>C) n.351T>C c.284T>C (p.Ile95Thr) c.*664T>C (n.*664T>C) c.863T>C (p.Ile288Thr) | dbSNP |
| 5 | g.149038412A>T | CA361672864 | SH3TC2 | c.774T>A c.884T>A (p.Ile295Asn) c.146T>A (p.Ile49Asn) c.*142T>A (n.*142T>A) n.351T>A c.284T>A (p.Ile95Asn) c.*664T>A (n.*664T>A) c.863T>A (p.Ile288Asn) | |
| 5 | g.149038413T>A | CA361672869 | SH3TC2 | c.773A>T c.883A>T (p.Ile295Phe) c.145A>T (p.Ile49Phe) c.*141A>T (n.*141A>T) n.350A>T c.283A>T (p.Ile95Phe) c.*663A>T (n.*663A>T) c.862A>T (p.Ile288Phe) | |
| 5 | g.149038413T>C | CA361672871 | SH3TC2 | c.773A>G c.883A>G (p.Ile295Val) c.145A>G (p.Ile49Val) c.*141A>G (n.*141A>G) n.350A>G c.283A>G (p.Ile95Val) c.*663A>G (n.*663A>G) c.862A>G (p.Ile288Val) | |
| 5 | g.149038413T>G | CA361672873 | SH3TC2 | c.773A>C c.883A>C (p.Ile295Leu) c.145A>C (p.Ile49Leu) c.*141A>C (n.*141A>C) n.350A>C c.283A>C (p.Ile95Leu) c.*663A>C (n.*663A>C) c.862A>C (p.Ile288Leu) | |
| 5 | g.149038414G>A | CA128994968 | SH3TC2 | c.772C>T c.882C>T (p.Ser294=) c.144C>T (p.Ser48=) c.*140C>T (n.*140C>T) n.349C>T c.282C>T (p.Ser94=) c.*662C>T (n.*662C>T) c.861C>T (p.Ser287=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038414G>C | CA361672878 | SH3TC2 | c.772C>G c.882C>G (p.Ser294Arg) c.144C>G (p.Ser48Arg) c.*140C>G (n.*140C>G) n.349C>G c.282C>G (p.Ser94Arg) c.*662C>G (n.*662C>G) c.861C>G (p.Ser287Arg) | |
| 5 | g.149038414G= | CA1590317341 | SH3TC2 | c.772C= c.882C= (p.Ser294=) c.144C= (p.Ser48=) c.*140C= (n.*140C=) n.349C= c.282C= (p.Ser94=) c.*662C= (n.*662C=) c.861C= (p.Ser287=) | |
| 5 | g.149038414G>T | CA361672879 | SH3TC2 | c.772C>A c.882C>A (p.Ser294Arg) c.144C>A (p.Ser48Arg) c.*140C>A (n.*140C>A) n.349C>A c.282C>A (p.Ser94Arg) c.*662C>A (n.*662C>A) c.861C>A (p.Ser287Arg) | dbSNP |
| 5 | g.149038415C>A | CA361672882 | SH3TC2 | c.771G>T c.881G>T (p.Ser294Ile) c.143G>T (p.Ser48Ile) c.*139G>T (n.*139G>T) n.348G>T c.281G>T (p.Ser94Ile) c.*661G>T (n.*661G>T) c.860G>T (p.Ser287Ile) | |
| 5 | g.149038415C>G | CA361672885 | SH3TC2 | c.771G>C c.881G>C (p.Ser294Thr) c.143G>C (p.Ser48Thr) c.*139G>C (n.*139G>C) n.348G>C c.281G>C (p.Ser94Thr) c.*661G>C (n.*661G>C) c.860G>C (p.Ser287Thr) | |
| 5 | g.149038415C>T | CA361672887 | SH3TC2 | c.771G>A c.881G>A (p.Ser294Asn) c.143G>A (p.Ser48Asn) c.*139G>A (n.*139G>A) n.348G>A c.281G>A (p.Ser94Asn) c.*661G>A (n.*661G>A) c.860G>A (p.Ser287Asn) | |
| 5 | g.149038416T>A | CA361672893 | SH3TC2 | c.770A>T c.880A>T (p.Ser294Cys) c.142A>T (p.Ser48Cys) c.*138A>T (n.*138A>T) n.347A>T c.280A>T (p.Ser94Cys) c.*660A>T (n.*660A>T) c.859A>T (p.Ser287Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149038416T>C | CA3499357 | SH3TC2 | c.770A>G c.880A>G (p.Ser294Gly) c.142A>G (p.Ser48Gly) c.*138A>G (n.*138A>G) n.347A>G c.280A>G (p.Ser94Gly) c.*660A>G (n.*660A>G) c.859A>G (p.Ser287Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149038416T>G | CA361672890 | SH3TC2 | c.770A>C c.880A>C (p.Ser294Arg) c.142A>C (p.Ser48Arg) c.*138A>C (n.*138A>C) n.347A>C c.280A>C (p.Ser94Arg) c.*660A>C (n.*660A>C) c.859A>C (p.Ser287Arg) | |
| 5 | g.149038416T= | CA1590317342 | SH3TC2 | c.770A= c.880A= (p.Ser294=) c.142A= (p.Ser48=) c.*138A= (n.*138A=) n.347A= c.280A= (p.Ser94=) c.*660A= (n.*660A=) c.859A= (p.Ser287=) | |
| 5 | g.149038417T>A | CA361672895 | SH3TC2 | c.769A>T c.879A>T (p.Glu293Asp) c.141A>T (p.Glu47Asp) c.*137A>T (n.*137A>T) n.346A>T c.279A>T (p.Glu93Asp) c.*659A>T (n.*659A>T) c.858A>T (p.Glu286Asp) | |
| 5 | g.149038417T>C | CA447109855 | SH3TC2 | c.769A>G c.879A>G (p.Glu293=) c.141A>G (p.Glu47=) c.*137A>G (n.*137A>G) n.346A>G c.279A>G (p.Glu93=) c.*659A>G (n.*659A>G) c.858A>G (p.Glu286=) | |
| 5 | g.149038417T>G | CA361672897 | SH3TC2 | c.769A>C c.879A>C (p.Glu293Asp) c.141A>C (p.Glu47Asp) c.*137A>C (n.*137A>C) n.346A>C c.279A>C (p.Glu93Asp) c.*659A>C (n.*659A>C) c.858A>C (p.Glu286Asp) | |
| 5 | g.149038418T>A | CA361672900 | SH3TC2 | c.768A>T c.878A>T (p.Glu293Val) c.140A>T (p.Glu47Val) c.*136A>T (n.*136A>T) n.345A>T c.278A>T (p.Glu93Val) c.*658A>T (n.*658A>T) c.857A>T (p.Glu286Val) | |
| 5 | g.149038418T>C | CA361672902 | SH3TC2 | c.768A>G c.878A>G (p.Glu293Gly) c.140A>G (p.Glu47Gly) c.*136A>G (n.*136A>G) n.345A>G c.278A>G (p.Glu93Gly) c.*658A>G (n.*658A>G) c.857A>G (p.Glu286Gly) | gnomAD v4 |
| 5 | g.149038418T>G | CA361672904 | SH3TC2 | c.768A>C c.878A>C (p.Glu293Ala) c.140A>C (p.Glu47Ala) c.*136A>C (n.*136A>C) n.345A>C c.278A>C (p.Glu93Ala) c.*658A>C (n.*658A>C) c.857A>C (p.Glu286Ala) | |
| 5 | g.149038419C>A | CA361672908 | SH3TC2 | c.767G>T c.877G>T (p.Glu293Ter) c.139G>T (p.Glu47Ter) c.*135G>T (n.*135G>T) n.344G>T c.277G>T (p.Glu93Ter) c.*657G>T (n.*657G>T) c.856G>T (p.Glu286Ter) | |
| 5 | g.149038419C>G | CA361672909 | SH3TC2 | c.767G>C c.877G>C (p.Glu293Gln) c.139G>C (p.Glu47Gln) c.*135G>C (n.*135G>C) n.344G>C c.277G>C (p.Glu93Gln) c.*657G>C (n.*657G>C) c.856G>C (p.Glu286Gln) | |
| 5 | g.149038419C>T | CA361672911 | SH3TC2 | c.767G>A c.877G>A (p.Glu293Lys) c.139G>A (p.Glu47Lys) c.*135G>A (n.*135G>A) n.344G>A c.277G>A (p.Glu93Lys) c.*657G>A (n.*657G>A) c.856G>A (p.Glu286Lys) | |
| 5 | g.149038420T>A | CA447109866 | SH3TC2 | c.766A>T c.876A>T (p.Gly292=) c.138A>T (p.Gly46=) c.*134A>T (n.*134A>T) n.343A>T c.276A>T (p.Gly92=) c.*656A>T (n.*656A>T) c.855A>T (p.Gly285=) | |
| 5 | g.149038420T>C | CA447109868 | SH3TC2 | c.766A>G c.876A>G (p.Gly292=) c.138A>G (p.Gly46=) c.*134A>G (n.*134A>G) n.343A>G c.276A>G (p.Gly92=) c.*656A>G (n.*656A>G) c.855A>G (p.Gly285=) | |
| 5 | g.149038420T>G | CA447109863 | SH3TC2 | c.766A>C c.876A>C (p.Gly292=) c.138A>C (p.Gly46=) c.*134A>C (n.*134A>C) n.343A>C c.276A>C (p.Gly92=) c.*656A>C (n.*656A>C) c.855A>C (p.Gly285=) | |
| 5 | g.149038421C>A | CA361672914 | SH3TC2 | c.765G>T c.875G>T (p.Gly292Val) c.137G>T (p.Gly46Val) c.*133G>T (n.*133G>T) n.342G>T c.275G>T (p.Gly92Val) c.*655G>T (n.*655G>T) c.854G>T (p.Gly285Val) | |
| 5 | g.149038421C>G | CA361672916 | SH3TC2 | c.765G>C c.875G>C (p.Gly292Ala) c.137G>C (p.Gly46Ala) c.*133G>C (n.*133G>C) n.342G>C c.275G>C (p.Gly92Ala) c.*655G>C (n.*655G>C) c.854G>C (p.Gly285Ala) | |
| 5 | g.149038421C>T | CA361672918 | SH3TC2 | c.765G>A c.875G>A (p.Gly292Glu) c.137G>A (p.Gly46Glu) c.*133G>A (n.*133G>A) n.342G>A c.275G>A (p.Gly92Glu) c.*655G>A (n.*655G>A) c.854G>A (p.Gly285Glu) | COSMIC COSMIC |
| 5 | g.149038422C>A | CA361672926 | SH3TC2 | c.764G>T c.874G>T (p.Gly292Ter) c.136G>T (p.Gly46Ter) c.*132G>T (n.*132G>T) n.341G>T c.274G>T (p.Gly92Ter) c.*654G>T (n.*654G>T) c.853G>T (p.Gly285Ter) | |
| 5 | g.149038422C>G | CA361672924 | SH3TC2 | c.764G>C c.874G>C (p.Gly292Arg) c.136G>C (p.Gly46Arg) c.*132G>C (n.*132G>C) n.341G>C c.274G>C (p.Gly92Arg) c.*654G>C (n.*654G>C) c.853G>C (p.Gly285Arg) | gnomAD v4 |
| 5 | g.149038422C>T | CA361672922 | SH3TC2 | c.764G>A c.874G>A (p.Gly292Arg) c.136G>A (p.Gly46Arg) c.*132G>A (n.*132G>A) n.341G>A c.274G>A (p.Gly92Arg) c.*654G>A (n.*654G>A) c.853G>A (p.Gly285Arg) | |
| 5 | g.149038423C>A | CA361672928 | SH3TC2 | c.763G>T c.873G>T (p.Gln291His) c.135G>T (p.Gln45His) c.*131G>T (n.*131G>T) n.340G>T c.273G>T (p.Gln91His) c.*653G>T (n.*653G>T) c.852G>T (p.Gln284His) | |
| 5 | g.149038423C= | CA1590317343 | SH3TC2 | c.763G= c.873G= (p.Gln291=) c.135G= (p.Gln45=) c.*131G= (n.*131G=) n.340G= c.273G= (p.Gln91=) c.*653G= (n.*653G=) c.852G= (p.Gln284=) | |
| 5 | g.149038423C>G | CA361672931 | SH3TC2 | c.763G>C c.873G>C (p.Gln291His) c.135G>C (p.Gln45His) c.*131G>C (n.*131G>C) n.340G>C c.273G>C (p.Gln91His) c.*653G>C (n.*653G>C) c.852G>C (p.Gln284His) | |
| 5 | g.149038423C>T | CA447109884 | SH3TC2 | c.763G>A c.873G>A (p.Gln291=) c.135G>A (p.Gln45=) c.*131G>A (n.*131G>A) n.340G>A c.273G>A (p.Gln91=) c.*653G>A (n.*653G>A) c.852G>A (p.Gln284=) | dbSNP |
| 5 | g.149038424T>A | CA361672934 | SH3TC2 | c.762A>T c.872A>T (p.Gln291Leu) c.134A>T (p.Gln45Leu) c.*130A>T (n.*130A>T) n.339A>T c.272A>T (p.Gln91Leu) c.*652A>T (n.*652A>T) c.851A>T (p.Gln284Leu) | |
| 5 | g.149038424T>C | CA361672936 | SH3TC2 | c.762A>G c.872A>G (p.Gln291Arg) c.134A>G (p.Gln45Arg) c.*130A>G (n.*130A>G) n.339A>G c.272A>G (p.Gln91Arg) c.*652A>G (n.*652A>G) c.851A>G (p.Gln284Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038424T>G | CA361672938 | SH3TC2 | c.762A>C c.872A>C (p.Gln291Pro) c.134A>C (p.Gln45Pro) c.*130A>C (n.*130A>C) n.339A>C c.272A>C (p.Gln91Pro) c.*652A>C (n.*652A>C) c.851A>C (p.Gln284Pro) | |
| 5 | g.149038424T= | CA1590317344 | SH3TC2 | c.762A= c.872A= (p.Gln291=) c.134A= (p.Gln45=) c.*130A= (n.*130A=) n.339A= c.272A= (p.Gln91=) c.*652A= (n.*652A=) c.851A= (p.Gln284=) | |
| 5 | g.149038425G>A | CA361672940 | SH3TC2 | c.761C>T c.871C>T (p.Gln291Ter) c.133C>T (p.Gln45Ter) c.*129C>T (n.*129C>T) n.338C>T c.271C>T (p.Gln91Ter) c.*651C>T (n.*651C>T) c.850C>T (p.Gln284Ter) | |
| 5 | g.149038425G>C | CA361672942 | SH3TC2 | c.761C>G c.871C>G (p.Gln291Glu) c.133C>G (p.Gln45Glu) c.*129C>G (n.*129C>G) n.338C>G c.271C>G (p.Gln91Glu) c.*651C>G (n.*651C>G) c.850C>G (p.Gln284Glu) | |
| 5 | g.149038425G>T | CA361672944 | SH3TC2 | c.761C>A c.871C>A (p.Gln291Lys) c.133C>A (p.Gln45Lys) c.*129C>A (n.*129C>A) n.338C>A c.271C>A (p.Gln91Lys) c.*651C>A (n.*651C>A) c.850C>A (p.Gln284Lys) | |
| 5 | g.149038426G>A | CA447109896 | SH3TC2 | c.760C>T c.870C>T (p.Tyr290=) c.132C>T (p.Tyr44=) c.*128C>T (n.*128C>T) n.337C>T c.270C>T (p.Tyr90=) c.*650C>T (n.*650C>T) c.849C>T (p.Tyr283=) | |
| 5 | g.149038426G>C | CA361672946 | SH3TC2 | c.760C>G c.870C>G (p.Tyr290Ter) c.132C>G (p.Tyr44Ter) c.*128C>G (n.*128C>G) n.337C>G c.270C>G (p.Tyr90Ter) c.*650C>G (n.*650C>G) c.849C>G (p.Tyr283Ter) | gnomAD v4 |
| 5 | g.149038426G>T | CA361672948 | SH3TC2 | c.760C>A c.870C>A (p.Tyr290Ter) c.132C>A (p.Tyr44Ter) c.*128C>A (n.*128C>A) n.337C>A c.270C>A (p.Tyr90Ter) c.*650C>A (n.*650C>A) c.849C>A (p.Tyr283Ter) | |
| 5 | g.149038427T>A | CA361672951 | SH3TC2 | c.759A>T c.869A>T (p.Tyr290Phe) c.131A>T (p.Tyr44Phe) c.*127A>T (n.*127A>T) n.336A>T c.269A>T (p.Tyr90Phe) c.*649A>T (n.*649A>T) c.848A>T (p.Tyr283Phe) | |
| 5 | g.149038427T>C | CA361672953 | SH3TC2 | c.759A>G c.869A>G (p.Tyr290Cys) c.131A>G (p.Tyr44Cys) c.*127A>G (n.*127A>G) n.336A>G c.269A>G (p.Tyr90Cys) c.*649A>G (n.*649A>G) c.848A>G (p.Tyr283Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149038427T>G | CA361672955 | SH3TC2 | c.759A>C c.869A>C (p.Tyr290Ser) c.131A>C (p.Tyr44Ser) c.*127A>C (n.*127A>C) n.336A>C c.269A>C (p.Tyr90Ser) c.*649A>C (n.*649A>C) c.848A>C (p.Tyr283Ser) | |
| 5 | g.149038427T= | CA1590317345 | SH3TC2 | c.759A= c.869A= (p.Tyr290=) c.131A= (p.Tyr44=) c.*127A= (n.*127A=) n.336A= c.269A= (p.Tyr90=) c.*649A= (n.*649A=) c.848A= (p.Tyr283=) | |
| 5 | g.149038428A>C | CA361672959 | SH3TC2 | c.758T>G c.868T>G (p.Tyr290Asp) c.130T>G (p.Tyr44Asp) c.*126T>G (n.*126T>G) n.335T>G c.268T>G (p.Tyr90Asp) c.*648T>G (n.*648T>G) c.847T>G (p.Tyr283Asp) | |
| 5 | g.149038428A>G | CA361672962 | SH3TC2 | c.758T>C c.868T>C (p.Tyr290His) c.130T>C (p.Tyr44His) c.*126T>C (n.*126T>C) n.335T>C c.268T>C (p.Tyr90His) c.*648T>C (n.*648T>C) c.847T>C (p.Tyr283His) | |
| 5 | g.149038428A>T | CA361672960 | SH3TC2 | c.758T>A c.868T>A (p.Tyr290Asn) c.130T>A (p.Tyr44Asn) c.*126T>A (n.*126T>A) n.335T>A c.268T>A (p.Tyr90Asn) c.*648T>A (n.*648T>A) c.847T>A (p.Tyr283Asn) | |
| 5 | g.149038429G>A | CA447109911 | SH3TC2 | c.757C>T c.867C>T (p.Phe289=) c.129C>T (p.Phe43=) c.*125C>T (n.*125C>T) n.334C>T c.267C>T (p.Phe89=) c.*647C>T (n.*647C>T) c.846C>T (p.Phe282=) | |
| 5 | g.149038429G>C | CA361672965 | SH3TC2 | c.757C>G c.867C>G (p.Phe289Leu) c.129C>G (p.Phe43Leu) c.*125C>G (n.*125C>G) n.334C>G c.267C>G (p.Phe89Leu) c.*647C>G (n.*647C>G) c.846C>G (p.Phe282Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149038429G= | CA1590317346 | SH3TC2 | c.757C= c.867C= (p.Phe289=) c.129C= (p.Phe43=) c.*125C= (n.*125C=) n.334C= c.267C= (p.Phe89=) c.*647C= (n.*647C=) c.846C= (p.Phe282=) | |
| 5 | g.149038429G>T | CA361672967 | SH3TC2 | c.757C>A c.867C>A (p.Phe289Leu) c.129C>A (p.Phe43Leu) c.*125C>A (n.*125C>A) n.334C>A c.267C>A (p.Phe89Leu) c.*647C>A (n.*647C>A) c.846C>A (p.Phe282Leu) | |
| 5 | g.149038430A>C | CA361672969 | SH3TC2 | c.756T>G c.866T>G (p.Phe289Cys) c.128T>G (p.Phe43Cys) c.*124T>G (n.*124T>G) n.333T>G c.266T>G (p.Phe89Cys) c.*646T>G (n.*646T>G) c.845T>G (p.Phe282Cys) | |
| 5 | g.149038430A>G | CA361672971 | SH3TC2 | c.756T>C c.866T>C (p.Phe289Ser) c.128T>C (p.Phe43Ser) c.*124T>C (n.*124T>C) n.333T>C c.266T>C (p.Phe89Ser) c.*646T>C (n.*646T>C) c.845T>C (p.Phe282Ser) | |
| 5 | g.149038430A>T | CA361672973 | SH3TC2 | c.756T>A c.866T>A (p.Phe289Tyr) c.128T>A (p.Phe43Tyr) c.*124T>A (n.*124T>A) n.333T>A c.266T>A (p.Phe89Tyr) c.*646T>A (n.*646T>A) c.845T>A (p.Phe282Tyr) | |
| 5 | g.149038431A>C | CA361672976 | SH3TC2 | c.755T>G c.865T>G (p.Phe289Val) c.127T>G (p.Phe43Val) c.*123T>G (n.*123T>G) n.332T>G c.265T>G (p.Phe89Val) c.*645T>G (n.*645T>G) c.844T>G (p.Phe282Val) | |
| 5 | g.149038431A>G | CA361672978 | SH3TC2 | c.755T>C c.865T>C (p.Phe289Leu) c.127T>C (p.Phe43Leu) c.*123T>C (n.*123T>C) n.332T>C c.265T>C (p.Phe89Leu) c.*645T>C (n.*645T>C) c.844T>C (p.Phe282Leu) | |
| 5 | g.149038431A>T | CA361672981 | SH3TC2 | c.755T>A c.865T>A (p.Phe289Ile) c.127T>A (p.Phe43Ile) c.*123T>A (n.*123T>A) n.332T>A c.265T>A (p.Phe89Ile) c.*645T>A (n.*645T>A) c.844T>A (p.Phe282Ile) | |
| 5 | g.149038432A>C | CA361672983 | SH3TC2 | c.754T>G c.864T>G (p.Asn288Lys) c.126T>G (p.Asn42Lys) c.*122T>G (n.*122T>G) n.331T>G c.264T>G (p.Asn88Lys) c.*644T>G (n.*644T>G) c.843T>G (p.Asn281Lys) | |
| 5 | g.149038432A>G | CA447109927 | SH3TC2 | c.754T>C c.864T>C (p.Asn288=) c.126T>C (p.Asn42=) c.*122T>C (n.*122T>C) n.331T>C c.264T>C (p.Asn88=) c.*644T>C (n.*644T>C) c.843T>C (p.Asn281=) | gnomAD v4 |
| 5 | g.149038432A>T | CA361672985 | SH3TC2 | c.754T>A c.864T>A (p.Asn288Lys) c.126T>A (p.Asn42Lys) c.*122T>A (n.*122T>A) n.331T>A c.264T>A (p.Asn88Lys) c.*644T>A (n.*644T>A) c.843T>A (p.Asn281Lys) | |
| 5 | g.149038433T>A | CA361672991 | SH3TC2 | c.753A>T c.863A>T (p.Asn288Ile) c.125A>T (p.Asn42Ile) c.*121A>T (n.*121A>T) n.330A>T c.263A>T (p.Asn88Ile) c.*643A>T (n.*643A>T) c.842A>T (p.Asn281Ile) | |
| 5 | g.149038433T>C | CA361672994 | SH3TC2 | c.753A>G c.863A>G (p.Asn288Ser) c.125A>G (p.Asn42Ser) c.*121A>G (n.*121A>G) n.330A>G c.263A>G (p.Asn88Ser) c.*643A>G (n.*643A>G) c.842A>G (p.Asn281Ser) | gnomAD v4 |
| 5 | g.149038433T>G | CA361672989 | SH3TC2 | c.753A>C c.863A>C (p.Asn288Thr) c.125A>C (p.Asn42Thr) c.*121A>C (n.*121A>C) n.330A>C c.263A>C (p.Asn88Thr) c.*643A>C (n.*643A>C) c.842A>C (p.Asn281Thr) | |
| 5 | g.149038434T>A | CA361673000 | SH3TC2 | c.752A>T c.862A>T (p.Asn288Tyr) c.124A>T (p.Asn42Tyr) c.*120A>T (n.*120A>T) n.329A>T c.262A>T (p.Asn88Tyr) c.*642A>T (n.*642A>T) c.841A>T (p.Asn281Tyr) | |
| 5 | g.149038434T>C | CA361672997 | SH3TC2 | c.752A>G c.862A>G (p.Asn288Asp) c.124A>G (p.Asn42Asp) c.*120A>G (n.*120A>G) n.329A>G c.262A>G (p.Asn88Asp) c.*642A>G (n.*642A>G) c.841A>G (p.Asn281Asp) | |
| 5 | g.149038434T>G | CA361672998 | SH3TC2 | c.752A>C c.862A>C (p.Asn288His) c.124A>C (p.Asn42His) c.*120A>C (n.*120A>C) n.329A>C c.262A>C (p.Asn88His) c.*642A>C (n.*642A>C) c.841A>C (p.Asn281His) | |
| 5 | g.149038435C>A | CA447109942 | SH3TC2 | c.751G>T c.861G>T (p.Leu287=) c.123G>T (p.Leu41=) c.*119G>T (n.*119G>T) n.328G>T c.261G>T (p.Leu87=) c.*641G>T (n.*641G>T) c.840G>T (p.Leu280=) | |
| 5 | g.149038435C>G | CA447109945 | SH3TC2 | c.751G>C c.861G>C (p.Leu287=) c.123G>C (p.Leu41=) c.*119G>C (n.*119G>C) n.328G>C c.261G>C (p.Leu87=) c.*641G>C (n.*641G>C) c.840G>C (p.Leu280=) | |
| 5 | g.149038435C>T | CA447109948 | SH3TC2 | c.751G>A c.861G>A (p.Leu287=) c.123G>A (p.Leu41=) c.*119G>A (n.*119G>A) n.328G>A c.261G>A (p.Leu87=) c.*641G>A (n.*641G>A) c.840G>A (p.Leu280=) | |
| 5 | g.149038436A>C | CA361673002 | SH3TC2 | c.750T>G c.860T>G (p.Leu287Arg) c.122T>G (p.Leu41Arg) c.*118T>G (n.*118T>G) n.327T>G c.260T>G (p.Leu87Arg) c.*640T>G (n.*640T>G) c.839T>G (p.Leu280Arg) | |
| 5 | g.149038436A>G | CA361673004 | SH3TC2 | c.750T>C c.860T>C (p.Leu287Pro) c.122T>C (p.Leu41Pro) c.*118T>C (n.*118T>C) n.327T>C c.260T>C (p.Leu87Pro) c.*640T>C (n.*640T>C) c.839T>C (p.Leu280Pro) | |
| 5 | g.149038436A>T | CA361673005 | SH3TC2 | c.750T>A c.860T>A (p.Leu287Gln) c.122T>A (p.Leu41Gln) c.*118T>A (n.*118T>A) n.327T>A c.260T>A (p.Leu87Gln) c.*640T>A (n.*640T>A) c.839T>A (p.Leu280Gln) | |
| 5 | g.149038437G>A | CA447109958 | SH3TC2 | c.749C>T c.859C>T (p.Leu287=) c.121C>T (p.Leu41=) c.*117C>T (n.*117C>T) n.326C>T c.259C>T (p.Leu87=) c.*639C>T (n.*639C>T) c.838C>T (p.Leu280=) | gnomAD v4 |
| 5 | g.149038437G>C | CA361673009 | SH3TC2 | c.749C>G c.859C>G (p.Leu287Val) c.121C>G (p.Leu41Val) c.*117C>G (n.*117C>G) n.326C>G c.259C>G (p.Leu87Val) c.*639C>G (n.*639C>G) c.838C>G (p.Leu280Val) | |
| 5 | g.149038437G>T | CA361673010 | SH3TC2 | c.749C>A c.859C>A (p.Leu287Met) c.121C>A (p.Leu41Met) c.*117C>A (n.*117C>A) n.326C>A c.259C>A (p.Leu87Met) c.*639C>A (n.*639C>A) c.838C>A (p.Leu280Met) | dbSNP |
| 5 | g.149038438T>A | CA361673013 | SH3TC2 | c.748A>T c.858A>T (p.Glu286Asp) c.120A>T (p.Glu40Asp) c.*116A>T (n.*116A>T) n.325A>T c.258A>T (p.Glu86Asp) c.*638A>T (n.*638A>T) c.837A>T (p.Glu279Asp) | |
| 5 | g.149038438T>C | CA3499358 | SH3TC2 | c.748A>G c.858A>G (p.Glu286=) c.120A>G (p.Glu40=) c.*116A>G (n.*116A>G) n.325A>G c.258A>G (p.Glu86=) c.*638A>G (n.*638A>G) c.837A>G (p.Glu279=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038438T>G | CA361673016 | SH3TC2 | c.748A>C c.858A>C (p.Glu286Asp) c.120A>C (p.Glu40Asp) c.*116A>C (n.*116A>C) n.325A>C c.258A>C (p.Glu86Asp) c.*638A>C (n.*638A>C) c.837A>C (p.Glu279Asp) | |
| 5 | g.149038438T= | CA1590317347 | SH3TC2 | c.748A= c.858A= (p.Glu286=) c.120A= (p.Glu40=) c.*116A= (n.*116A=) n.325A= c.258A= (p.Glu86=) c.*638A= (n.*638A=) c.837A= (p.Glu279=) | |
| 5 | g.149038439T>A | CA361673019 | SH3TC2 | c.747A>T c.857A>T (p.Glu286Val) c.119A>T (p.Glu40Val) c.*115A>T (n.*115A>T) n.324A>T c.257A>T (p.Glu86Val) c.*637A>T (n.*637A>T) c.836A>T (p.Glu279Val) | |
| 5 | g.149038439T>C | CA361673021 | SH3TC2 | c.747A>G c.857A>G (p.Glu286Gly) c.119A>G (p.Glu40Gly) c.*115A>G (n.*115A>G) n.324A>G c.257A>G (p.Glu86Gly) c.*637A>G (n.*637A>G) c.836A>G (p.Glu279Gly) | |
| 5 | g.149038439T>G | CA361673023 | SH3TC2 | c.747A>C c.857A>C (p.Glu286Ala) c.119A>C (p.Glu40Ala) c.*115A>C (n.*115A>C) n.324A>C c.257A>C (p.Glu86Ala) c.*637A>C (n.*637A>C) c.836A>C (p.Glu279Ala) | |
| 5 | g.149038440C>A | CA361673026 | SH3TC2 | c.746G>T c.856G>T (p.Glu286Ter) c.118G>T (p.Glu40Ter) c.*114G>T (n.*114G>T) n.323G>T c.256G>T (p.Glu86Ter) c.*636G>T (n.*636G>T) c.835G>T (p.Glu279Ter) | gnomAD v4 |
| 5 | g.149038440C>G | CA361673031 | SH3TC2 | c.746G>C c.856G>C (p.Glu286Gln) c.118G>C (p.Glu40Gln) c.*114G>C (n.*114G>C) n.323G>C c.256G>C (p.Glu86Gln) c.*636G>C (n.*636G>C) c.835G>C (p.Glu279Gln) | gnomAD v4 |
| 5 | g.149038440C>T | CA361673029 | SH3TC2 | c.746G>A c.856G>A (p.Glu286Lys) c.118G>A (p.Glu40Lys) c.*114G>A (n.*114G>A) n.323G>A c.256G>A (p.Glu86Lys) c.*636G>A (n.*636G>A) c.835G>A (p.Glu279Lys) | ClinVar dbSNP |
| 5 | g.149038441A= | CA1590317348 | SH3TC2 | c.745T= c.855T= (p.Asp285=) c.117T= (p.Asp39=) c.*113T= (n.*113T=) n.322T= c.255T= (p.Asp85=) c.*635T= (n.*635T=) c.834T= (p.Asp278=) | |
| 5 | g.149038441A>C | CA361673034 | SH3TC2 | c.745T>G c.855T>G (p.Asp285Glu) c.117T>G (p.Asp39Glu) c.*113T>G (n.*113T>G) n.322T>G c.255T>G (p.Asp85Glu) c.*635T>G (n.*635T>G) c.834T>G (p.Asp278Glu) | gnomAD v4 |
| 5 | g.149038441A>G | CA3499359 | SH3TC2 | c.745T>C c.855T>C (p.Asp285=) c.117T>C (p.Asp39=) c.*113T>C (n.*113T>C) n.322T>C c.255T>C (p.Asp85=) c.*635T>C (n.*635T>C) c.834T>C (p.Asp278=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038441A>T | CA361673037 | SH3TC2 | c.745T>A c.855T>A (p.Asp285Glu) c.117T>A (p.Asp39Glu) c.*113T>A (n.*113T>A) n.322T>A c.255T>A (p.Asp85Glu) c.*635T>A (n.*635T>A) c.834T>A (p.Asp278Glu) | |
| 5 | g.149038442T>A | CA361673040 | SH3TC2 | c.744A>T c.854A>T (p.Asp285Val) c.116A>T (p.Asp39Val) c.*112A>T (n.*112A>T) n.321A>T c.254A>T (p.Asp85Val) c.*634A>T (n.*634A>T) c.833A>T (p.Asp278Val) | gnomAD v4 |
| 5 | g.149038442T>C | CA3499360 | SH3TC2 | c.744A>G c.854A>G (p.Asp285Gly) c.116A>G (p.Asp39Gly) c.*112A>G (n.*112A>G) n.321A>G c.254A>G (p.Asp85Gly) c.*634A>G (n.*634A>G) c.833A>G (p.Asp278Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.149038442T>G | CA361673042 | SH3TC2 | c.744A>C c.854A>C (p.Asp285Ala) c.116A>C (p.Asp39Ala) c.*112A>C (n.*112A>C) n.321A>C c.254A>C (p.Asp85Ala) c.*634A>C (n.*634A>C) c.833A>C (p.Asp278Ala) | |
| 5 | g.149038442T= | CA1590317349 | SH3TC2 | c.744A= c.854A= (p.Asp285=) c.116A= (p.Asp39=) c.*112A= (n.*112A=) n.321A= c.254A= (p.Asp85=) c.*634A= (n.*634A=) c.833A= (p.Asp278=) | |
| 5 | g.149038443C>A | CA361673045 | SH3TC2 | c.743G>T c.853G>T (p.Asp285Tyr) c.115G>T (p.Asp39Tyr) c.*111G>T (n.*111G>T) n.320G>T c.253G>T (p.Asp85Tyr) c.*633G>T (n.*633G>T) c.832G>T (p.Asp278Tyr) | |
| 5 | g.149038443C= | CA1590317350 | SH3TC2 | c.743G= c.853G= (p.Asp285=) c.115G= (p.Asp39=) c.*111G= (n.*111G=) n.320G= c.253G= (p.Asp85=) c.*633G= (n.*633G=) c.832G= (p.Asp278=) | |
| 5 | g.149038443C>G | CA361673047 | SH3TC2 | c.743G>C c.853G>C (p.Asp285His) c.115G>C (p.Asp39His) c.*111G>C (n.*111G>C) n.320G>C c.253G>C (p.Asp85His) c.*633G>C (n.*633G>C) c.832G>C (p.Asp278His) | dbSNP |
| 5 | g.149038443C>T | CA3499361 | SH3TC2 | c.743G>A c.853G>A (p.Asp285Asn) c.115G>A (p.Asp39Asn) c.*111G>A (n.*111G>A) n.320G>A c.253G>A (p.Asp85Asn) c.*633G>A (n.*633G>A) c.832G>A (p.Asp278Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149038444C>A | CA361673051 | SH3TC2 | c.742G>T c.852G>T (p.Lys284Asn) c.114G>T (p.Lys38Asn) c.*110G>T (n.*110G>T) n.319G>T c.252G>T (p.Lys84Asn) c.*632G>T (n.*632G>T) c.831G>T (p.Lys277Asn) | |
| 5 | g.149038444C= | CA1590317351 | SH3TC2 | c.742G= c.852G= (p.Lys284=) c.114G= (p.Lys38=) c.*110G= (n.*110G=) n.319G= c.252G= (p.Lys84=) c.*632G= (n.*632G=) c.831G= (p.Lys277=) | |
| 5 | g.149038444C>G | CA361673053 | SH3TC2 | c.742G>C c.852G>C (p.Lys284Asn) c.114G>C (p.Lys38Asn) c.*110G>C (n.*110G>C) n.319G>C c.252G>C (p.Lys84Asn) c.*632G>C (n.*632G>C) c.831G>C (p.Lys277Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038444C>T | CA447109997 | SH3TC2 | c.742G>A c.852G>A (p.Lys284=) c.114G>A (p.Lys38=) c.*110G>A (n.*110G>A) n.319G>A c.252G>A (p.Lys84=) c.*632G>A (n.*632G>A) c.831G>A (p.Lys277=) | dbSNP gnomAD v4 |
| 5 | g.149038445T>A | CA361673059 | SH3TC2 | c.741A>T c.851A>T (p.Lys284Met) c.113A>T (p.Lys38Met) c.*109A>T (n.*109A>T) n.318A>T c.251A>T (p.Lys84Met) c.*631A>T (n.*631A>T) c.830A>T (p.Lys277Met) | |
| 5 | g.149038445T>C | CA361673061 | SH3TC2 | c.741A>G c.851A>G (p.Lys284Arg) c.113A>G (p.Lys38Arg) c.*109A>G (n.*109A>G) n.318A>G c.251A>G (p.Lys84Arg) c.*631A>G (n.*631A>G) c.830A>G (p.Lys277Arg) | COSMIC COSMIC |
| 5 | g.149038445T>G | CA361673056 | SH3TC2 | c.741A>C c.851A>C (p.Lys284Thr) c.113A>C (p.Lys38Thr) c.*109A>C (n.*109A>C) n.318A>C c.251A>C (p.Lys84Thr) c.*631A>C (n.*631A>C) c.830A>C (p.Lys277Thr) | |
| 5 | g.149038445T= | CA1590317352 | SH3TC2 | c.741A= c.851A= (p.Lys284=) c.113A= (p.Lys38=) c.*109A= (n.*109A=) n.318A= c.251A= (p.Lys84=) c.*631A= (n.*631A=) c.830A= (p.Lys277=) | |
| 5 | g.149038446T>A | CA361673064 | SH3TC2 | c.740A>T c.850A>T (p.Lys284Ter) c.112A>T (p.Lys38Ter) c.*108A>T (n.*108A>T) n.317A>T c.250A>T (p.Lys84Ter) c.*630A>T (n.*630A>T) c.829A>T (p.Lys277Ter) | |
| 5 | g.149038446T>C | CA361673066 | SH3TC2 | c.740A>G c.850A>G (p.Lys284Glu) c.112A>G (p.Lys38Glu) c.*108A>G (n.*108A>G) n.317A>G c.250A>G (p.Lys84Glu) c.*630A>G (n.*630A>G) c.829A>G (p.Lys277Glu) | |
| 5 | g.149038446T>G | CA361673068 | SH3TC2 | c.740A>C c.850A>C (p.Lys284Gln) c.112A>C (p.Lys38Gln) c.*108A>C (n.*108A>C) n.317A>C c.250A>C (p.Lys84Gln) c.*630A>C (n.*630A>C) c.829A>C (p.Lys277Gln) | gnomAD v4 |
| 5 | g.149038448_149038476dup | CA1139659124 | SH3TC2 | c.712_740dup c.822_850dup (p.Lys284ArgfsTer3) c.84_112dup (p.Lys38ArgfsTer3) c.*80_*108dup (n.*80_*108dup) n.289_317dup c.222_250dup (p.Lys84ArgfsTer3) c.*602_*630dup (n.*602_*630dup) c.801_829dup (p.Lys277ArgfsTer3) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149038447T>A | CA361673071 | SH3TC2 | c.739A>T c.849A>T (p.Glu283Asp) c.111A>T (p.Glu37Asp) c.*107A>T (n.*107A>T) n.316A>T c.249A>T (p.Glu83Asp) c.*629A>T (n.*629A>T) c.828A>T (p.Glu276Asp) | |
| 5 | g.149038447T>C | CA447110011 | SH3TC2 | c.739A>G c.849A>G (p.Glu283=) c.111A>G (p.Glu37=) c.*107A>G (n.*107A>G) n.316A>G c.249A>G (p.Glu83=) c.*629A>G (n.*629A>G) c.828A>G (p.Glu276=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149038447T>G | CA361673073 | SH3TC2 | c.739A>C c.849A>C (p.Glu283Asp) c.111A>C (p.Glu37Asp) c.*107A>C (n.*107A>C) n.316A>C c.249A>C (p.Glu83Asp) c.*629A>C (n.*629A>C) c.828A>C (p.Glu276Asp) | |
| 5 | g.149038448T>A | CA361673081 | SH3TC2 | c.738A>T c.848A>T (p.Glu283Val) c.110A>T (p.Glu37Val) c.*106A>T (n.*106A>T) n.315A>T c.248A>T (p.Glu83Val) c.*628A>T (n.*628A>T) c.827A>T (p.Glu276Val) | |
| 5 | g.149038448T>C | CA361673079 | SH3TC2 | c.738A>G c.848A>G (p.Glu283Gly) c.110A>G (p.Glu37Gly) c.*106A>G (n.*106A>G) n.315A>G c.248A>G (p.Glu83Gly) c.*628A>G (n.*628A>G) c.827A>G (p.Glu276Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149038448T>G | CA361673076 | SH3TC2 | c.738A>C c.848A>C (p.Glu283Ala) c.110A>C (p.Glu37Ala) c.*106A>C (n.*106A>C) n.315A>C c.248A>C (p.Glu83Ala) c.*628A>C (n.*628A>C) c.827A>C (p.Glu276Ala) | |
| 5 | g.149038448T= | CA1590317353 | SH3TC2 | c.738A= c.848A= (p.Glu283=) c.110A= (p.Glu37=) c.*106A= (n.*106A=) n.315A= c.248A= (p.Glu83=) c.*628A= (n.*628A=) c.827A= (p.Glu276=) | |
| 5 | g.149038449C>A | CA361673084 | SH3TC2 | c.737G>T c.847G>T (p.Glu283Ter) c.109G>T (p.Glu37Ter) c.*105G>T (n.*105G>T) n.314G>T c.247G>T (p.Glu83Ter) c.*627G>T (n.*627G>T) c.826G>T (p.Glu276Ter) | gnomAD v4 |
| 5 | g.149038449C>G | CA361673086 | SH3TC2 | c.737G>C c.847G>C (p.Glu283Gln) c.109G>C (p.Glu37Gln) c.*105G>C (n.*105G>C) n.314G>C c.247G>C (p.Glu83Gln) c.*627G>C (n.*627G>C) c.826G>C (p.Glu276Gln) | gnomAD v4 |
| 5 | g.149038449C>T | CA361673088 | SH3TC2 | c.737G>A c.847G>A (p.Glu283Lys) c.109G>A (p.Glu37Lys) c.*105G>A (n.*105G>A) n.314G>A c.247G>A (p.Glu83Lys) c.*627G>A (n.*627G>A) c.826G>A (p.Glu276Lys) | |
| 5 | g.149038450T>A | CA447110026 | SH3TC2 | c.736A>T c.846A>T (p.Gly282=) c.108A>T (p.Gly36=) c.*104A>T (n.*104A>T) n.313A>T c.246A>T (p.Gly82=) c.*626A>T (n.*626A>T) c.825A>T (p.Gly275=) | |
| 5 | g.149038450T>C | CA447110027 | SH3TC2 | c.736A>G c.846A>G (p.Gly282=) c.108A>G (p.Gly36=) c.*104A>G (n.*104A>G) n.313A>G c.246A>G (p.Gly82=) c.*626A>G (n.*626A>G) c.825A>G (p.Gly275=) | |
| 5 | g.149038450T>G | CA447110028 | SH3TC2 | c.736A>C c.846A>C (p.Gly282=) c.108A>C (p.Gly36=) c.*104A>C (n.*104A>C) n.313A>C c.246A>C (p.Gly82=) c.*626A>C (n.*626A>C) c.825A>C (p.Gly275=) | |
| 5 | g.149038451C>A | CA361673090 | SH3TC2 | c.735G>T c.845G>T (p.Gly282Val) c.107G>T (p.Gly36Val) c.*103G>T (n.*103G>T) n.312G>T c.245G>T (p.Gly82Val) c.*625G>T (n.*625G>T) c.824G>T (p.Gly275Val) | |
| 5 | g.149038451C= | CA1590317354 | SH3TC2 | c.735G= c.845G= (p.Gly282=) c.107G= (p.Gly36=) c.*103G= (n.*103G=) n.312G= c.245G= (p.Gly82=) c.*625G= (n.*625G=) c.824G= (p.Gly275=) | |
| 5 | g.149038451C>G | CA361673092 | SH3TC2 | c.735G>C c.845G>C (p.Gly282Ala) c.107G>C (p.Gly36Ala) c.*103G>C (n.*103G>C) n.312G>C c.245G>C (p.Gly82Ala) c.*625G>C (n.*625G>C) c.824G>C (p.Gly275Ala) | |
| 5 | g.149038451C>T | CA361673094 | SH3TC2 | c.735G>A c.845G>A (p.Gly282Glu) c.107G>A (p.Gly36Glu) c.*103G>A (n.*103G>A) n.312G>A c.245G>A (p.Gly82Glu) c.*625G>A (n.*625G>A) c.824G>A (p.Gly275Glu) | dbSNP gnomAD v4 |
| 5 | g.149038452C>A | CA361673097 | SH3TC2 | c.734G>T c.844G>T (p.Gly282Ter) c.106G>T (p.Gly36Ter) c.*102G>T (n.*102G>T) n.311G>T c.244G>T (p.Gly82Ter) c.*624G>T (n.*624G>T) c.823G>T (p.Gly275Ter) | |
| 5 | g.149038452C>G | CA361673101 | SH3TC2 | c.734G>C c.844G>C (p.Gly282Arg) c.106G>C (p.Gly36Arg) c.*102G>C (n.*102G>C) n.311G>C c.244G>C (p.Gly82Arg) c.*624G>C (n.*624G>C) c.823G>C (p.Gly275Arg) | |
| 5 | g.149038452C>T | CA361673099 | SH3TC2 | c.734G>A c.844G>A (p.Gly282Arg) c.106G>A (p.Gly36Arg) c.*102G>A (n.*102G>A) n.311G>A c.244G>A (p.Gly82Arg) c.*624G>A (n.*624G>A) c.823G>A (p.Gly275Arg) | |
| 5 | g.149038453T>A | CA447110049 | SH3TC2 | c.733A>T c.843A>T (p.Pro281=) c.105A>T (p.Pro35=) c.*101A>T (n.*101A>T) n.310A>T c.243A>T (p.Pro81=) c.*623A>T (n.*623A>T) c.822A>T (p.Pro274=) | |
| 5 | g.149038453T>C | CA447110046 | SH3TC2 | c.733A>G c.843A>G (p.Pro281=) c.105A>G (p.Pro35=) c.*101A>G (n.*101A>G) n.310A>G c.243A>G (p.Pro81=) c.*623A>G (n.*623A>G) c.822A>G (p.Pro274=) | |
| 5 | g.149038453T>G | CA447110051 | SH3TC2 | c.733A>C c.843A>C (p.Pro281=) c.105A>C (p.Pro35=) c.*101A>C (n.*101A>C) n.310A>C c.243A>C (p.Pro81=) c.*623A>C (n.*623A>C) c.822A>C (p.Pro274=) | dbSNP gnomAD v2 |
| 5 | g.149038453T= | CA1590317355 | SH3TC2 | c.733A= c.843A= (p.Pro281=) c.105A= (p.Pro35=) c.*101A= (n.*101A=) n.310A= c.243A= (p.Pro81=) c.*623A= (n.*623A=) c.822A= (p.Pro274=) | |
| 5 | g.149038454G>A | CA361673104 | SH3TC2 | c.732C>T c.842C>T (p.Pro281Leu) c.104C>T (p.Pro35Leu) c.*100C>T (n.*100C>T) n.309C>T c.242C>T (p.Pro81Leu) c.*622C>T (n.*622C>T) c.821C>T (p.Pro274Leu) | |
| 5 | g.149038454G>C | CA361673106 | SH3TC2 | c.732C>G c.842C>G (p.Pro281Arg) c.104C>G (p.Pro35Arg) c.*100C>G (n.*100C>G) n.309C>G c.242C>G (p.Pro81Arg) c.*622C>G (n.*622C>G) c.821C>G (p.Pro274Arg) | gnomAD v4 |
| 5 | g.149038454G>T | CA361673108 | SH3TC2 | c.732C>A c.842C>A (p.Pro281Gln) c.104C>A (p.Pro35Gln) c.*100C>A (n.*100C>A) n.309C>A c.242C>A (p.Pro81Gln) c.*622C>A (n.*622C>A) c.821C>A (p.Pro274Gln) | |
| 5 | g.149038455G>A | CA361673111 | SH3TC2 | c.731C>T c.841C>T (p.Pro281Ser) c.103C>T (p.Pro35Ser) c.*99C>T (n.*99C>T) n.308C>T c.241C>T (p.Pro81Ser) c.*621C>T (n.*621C>T) c.820C>T (p.Pro274Ser) | |
| 5 | g.149038455G>C | CA361673113 | SH3TC2 | c.731C>G c.841C>G (p.Pro281Ala) c.103C>G (p.Pro35Ala) c.*99C>G (n.*99C>G) n.308C>G c.241C>G (p.Pro81Ala) c.*621C>G (n.*621C>G) c.820C>G (p.Pro274Ala) | |
| 5 | g.149038455G= | CA1590317356 | SH3TC2 | c.731C= c.841C= (p.Pro281=) c.103C= (p.Pro35=) c.*99C= (n.*99C=) n.308C= c.241C= (p.Pro81=) c.*621C= (n.*621C=) c.820C= (p.Pro274=) | |
| 5 | g.149038455G>T | CA3499362 | SH3TC2 | c.731C>A c.841C>A (p.Pro281Thr) c.103C>A (p.Pro35Thr) c.*99C>A (n.*99C>A) n.308C>A c.241C>A (p.Pro81Thr) c.*621C>A (n.*621C>A) c.820C>A (p.Pro274Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038456C>A | CA361673118 | SH3TC2 | c.730G>T c.840G>T (p.Glu280Asp) c.102G>T (p.Glu34Asp) c.*98G>T (n.*98G>T) n.307G>T c.240G>T (p.Glu80Asp) c.*620G>T (n.*620G>T) c.819G>T (p.Glu273Asp) | |
| 5 | g.149038456C= | CA1590317357 | SH3TC2 | c.730G= c.840G= (p.Glu280=) c.102G= (p.Glu34=) c.*98G= (n.*98G=) n.307G= c.240G= (p.Glu80=) c.*620G= (n.*620G=) c.819G= (p.Glu273=) | |
| 5 | g.149038456C>G | CA361673119 | SH3TC2 | c.730G>C c.840G>C (p.Glu280Asp) c.102G>C (p.Glu34Asp) c.*98G>C (n.*98G>C) n.307G>C c.240G>C (p.Glu80Asp) c.*620G>C (n.*620G>C) c.819G>C (p.Glu273Asp) | |
| 5 | g.149038456C>T | CA3499363 | SH3TC2 | c.730G>A c.840G>A (p.Glu280=) c.102G>A (p.Glu34=) c.*98G>A (n.*98G>A) n.307G>A c.240G>A (p.Glu80=) c.*620G>A (n.*620G>A) c.819G>A (p.Glu273=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149038457T>A | CA361673123 | SH3TC2 | c.729A>T c.839A>T (p.Glu280Val) c.101A>T (p.Glu34Val) c.*97A>T (n.*97A>T) n.306A>T c.239A>T (p.Glu80Val) c.*619A>T (n.*619A>T) c.818A>T (p.Glu273Val) | |
| 5 | g.149038457T>C | CA361673126 | SH3TC2 | c.729A>G c.839A>G (p.Glu280Gly) c.101A>G (p.Glu34Gly) c.*97A>G (n.*97A>G) n.306A>G c.239A>G (p.Glu80Gly) c.*619A>G (n.*619A>G) c.818A>G (p.Glu273Gly) | gnomAD v4 |
| 5 | g.149038457T>G | CA361673128 | SH3TC2 | c.729A>C c.839A>C (p.Glu280Ala) c.101A>C (p.Glu34Ala) c.*97A>C (n.*97A>C) n.306A>C c.239A>C (p.Glu80Ala) c.*619A>C (n.*619A>C) c.818A>C (p.Glu273Ala) | gnomAD v4 |
| 5 | g.149038458C>A | CA361673135 | SH3TC2 | c.728G>T c.838G>T (p.Glu280Ter) c.100G>T (p.Glu34Ter) c.*96G>T (n.*96G>T) n.305G>T c.238G>T (p.Glu80Ter) c.*618G>T (n.*618G>T) c.817G>T (p.Glu273Ter) | |
| 5 | g.149038458C= | CA1590317358 | SH3TC2 | c.728G= c.838G= (p.Glu280=) c.100G= (p.Glu34=) c.*96G= (n.*96G=) n.305G= c.238G= (p.Glu80=) c.*618G= (n.*618G=) c.817G= (p.Glu273=) | |
| 5 | g.149038458C>G | CA361673133 | SH3TC2 | c.728G>C c.838G>C (p.Glu280Gln) c.100G>C (p.Glu34Gln) c.*96G>C (n.*96G>C) n.305G>C c.238G>C (p.Glu80Gln) c.*618G>C (n.*618G>C) c.817G>C (p.Glu273Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149038458C>T | CA361673132 | SH3TC2 | c.728G>A c.838G>A (p.Glu280Lys) c.100G>A (p.Glu34Lys) c.*96G>A (n.*96G>A) n.305G>A c.238G>A (p.Glu80Lys) c.*618G>A (n.*618G>A) c.817G>A (p.Glu273Lys) | |
| 5 | g.149038459A= | CA1590317359 | SH3TC2 | c.727T= c.837T= (p.Tyr279=) c.99T= (p.Tyr33=) c.*95T= (n.*95T=) n.304T= c.237T= (p.Tyr79=) c.*617T= (n.*617T=) c.816T= (p.Tyr272=) | |
| 5 | g.149038459A>C | CA361673137 | SH3TC2 | c.727T>G c.837T>G (p.Tyr279Ter) c.99T>G (p.Tyr33Ter) c.*95T>G (n.*95T>G) n.304T>G c.237T>G (p.Tyr79Ter) c.*617T>G (n.*617T>G) c.816T>G (p.Tyr272Ter) | |
| 5 | g.149038459A>G | CA447110084 | SH3TC2 | c.727T>C c.837T>C (p.Tyr279=) c.99T>C (p.Tyr33=) c.*95T>C (n.*95T>C) n.304T>C c.237T>C (p.Tyr79=) c.*617T>C (n.*617T>C) c.816T>C (p.Tyr272=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149038459A>T | CA361673139 | SH3TC2 | c.727T>A c.837T>A (p.Tyr279Ter) c.99T>A (p.Tyr33Ter) c.*95T>A (n.*95T>A) n.304T>A c.237T>A (p.Tyr79Ter) c.*617T>A (n.*617T>A) c.816T>A (p.Tyr272Ter) | |
| 5 | g.149038460T>A | CA3499365 | SH3TC2 | c.726A>T c.836A>T (p.Tyr279Phe) c.98A>T (p.Tyr33Phe) c.*94A>T (n.*94A>T) n.303A>T c.236A>T (p.Tyr79Phe) c.*616A>T (n.*616A>T) c.815A>T (p.Tyr272Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038460T>C | CA3499364 | SH3TC2 | c.726A>G c.836A>G (p.Tyr279Cys) c.98A>G (p.Tyr33Cys) c.*94A>G (n.*94A>G) n.303A>G c.236A>G (p.Tyr79Cys) c.*616A>G (n.*616A>G) c.815A>G (p.Tyr272Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038460T>G | CA361673143 | SH3TC2 | c.726A>C c.836A>C (p.Tyr279Ser) c.98A>C (p.Tyr33Ser) c.*94A>C (n.*94A>C) n.303A>C c.236A>C (p.Tyr79Ser) c.*616A>C (n.*616A>C) c.815A>C (p.Tyr272Ser) | |
| 5 | g.149038460T= | CA1590317360 | SH3TC2 | c.726A= c.836A= (p.Tyr279=) c.98A= (p.Tyr33=) c.*94A= (n.*94A=) n.303A= c.236A= (p.Tyr79=) c.*616A= (n.*616A=) c.815A= (p.Tyr272=) | |
| 5 | g.149038461A>C | CA361673148 | SH3TC2 | c.725T>G c.835T>G (p.Tyr279Asp) c.97T>G (p.Tyr33Asp) c.*93T>G (n.*93T>G) n.302T>G c.235T>G (p.Tyr79Asp) c.*615T>G (n.*615T>G) c.814T>G (p.Tyr272Asp) | |
| 5 | g.149038461A>G | CA361673149 | SH3TC2 | c.725T>C c.835T>C (p.Tyr279His) c.97T>C (p.Tyr33His) c.*93T>C (n.*93T>C) n.302T>C c.235T>C (p.Tyr79His) c.*615T>C (n.*615T>C) c.814T>C (p.Tyr272His) | |
| 5 | g.149038461A>T | CA361673151 | SH3TC2 | c.725T>A c.835T>A (p.Tyr279Asn) c.97T>A (p.Tyr33Asn) c.*93T>A (n.*93T>A) n.302T>A c.235T>A (p.Tyr79Asn) c.*615T>A (n.*615T>A) c.814T>A (p.Tyr272Asn) | dbSNP |
| 5 | g.149038462A>C | CA447110108 | SH3TC2 | c.724T>G c.834T>G (p.Gly278=) c.96T>G (p.Gly32=) c.*92T>G (n.*92T>G) n.301T>G c.234T>G (p.Gly78=) c.*614T>G (n.*614T>G) c.813T>G (p.Gly271=) | |
| 5 | g.149038462A>G | CA447110111 | SH3TC2 | c.724T>C c.834T>C (p.Gly278=) c.96T>C (p.Gly32=) c.*92T>C (n.*92T>C) n.301T>C c.234T>C (p.Gly78=) c.*614T>C (n.*614T>C) c.813T>C (p.Gly271=) | |
| 5 | g.149038462A>T | CA447110113 | SH3TC2 | c.724T>A c.834T>A (p.Gly278=) c.96T>A (p.Gly32=) c.*92T>A (n.*92T>A) n.301T>A c.234T>A (p.Gly78=) c.*614T>A (n.*614T>A) c.813T>A (p.Gly271=) | |
| 5 | g.149038463C>A | CA3499367 | SH3TC2 | c.723G>T c.833G>T (p.Gly278Val) c.95G>T (p.Gly32Val) c.*91G>T (n.*91G>T) n.300G>T c.233G>T (p.Gly78Val) c.*613G>T (n.*613G>T) c.812G>T (p.Gly271Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038463C= | CA1590317361 | SH3TC2 | c.723G= c.833G= (p.Gly278=) c.95G= (p.Gly32=) c.*91G= (n.*91G=) n.300G= c.233G= (p.Gly78=) c.*613G= (n.*613G=) c.812G= (p.Gly271=) | |
| 5 | g.149038463C>G | CA3499366 | SH3TC2 | c.723G>C c.833G>C (p.Gly278Ala) c.95G>C (p.Gly32Ala) c.*91G>C (n.*91G>C) n.300G>C c.233G>C (p.Gly78Ala) c.*613G>C (n.*613G>C) c.812G>C (p.Gly271Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038463C>T | CA361673155 | SH3TC2 | c.723G>A c.833G>A (p.Gly278Asp) c.95G>A (p.Gly32Asp) c.*91G>A (n.*91G>A) n.300G>A c.233G>A (p.Gly78Asp) c.*613G>A (n.*613G>A) c.812G>A (p.Gly271Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038464C>A | CA361673158 | SH3TC2 | c.722G>T c.832G>T (p.Gly278Cys) c.94G>T (p.Gly32Cys) c.*90G>T (n.*90G>T) n.299G>T c.232G>T (p.Gly78Cys) c.*612G>T (n.*612G>T) c.811G>T (p.Gly271Cys) | gnomAD v4 |
| 5 | g.149038464C= | CA1590317362 | SH3TC2 | c.722G= c.832G= (p.Gly278=) c.94G= (p.Gly32=) c.*90G= (n.*90G=) n.299G= c.232G= (p.Gly78=) c.*612G= (n.*612G=) c.811G= (p.Gly271=) | |
| 5 | g.149038464C>G | CA361673159 | SH3TC2 | c.722G>C c.832G>C (p.Gly278Arg) c.94G>C (p.Gly32Arg) c.*90G>C (n.*90G>C) n.299G>C c.232G>C (p.Gly78Arg) c.*612G>C (n.*612G>C) c.811G>C (p.Gly271Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038464C>T | CA361673162 | SH3TC2 | c.722G>A c.832G>A (p.Gly278Ser) c.94G>A (p.Gly32Ser) c.*90G>A (n.*90G>A) n.299G>A c.232G>A (p.Gly78Ser) c.*612G>A (n.*612G>A) c.811G>A (p.Gly271Ser) | ClinVar dbSNP |
| 5 | g.149038465C>A | CA447110122 | SH3TC2 | c.721G>T c.831G>T (p.Thr277=) c.93G>T (p.Thr31=) c.*89G>T (n.*89G>T) n.298G>T c.231G>T (p.Thr77=) c.*611G>T (n.*611G>T) c.810G>T (p.Thr270=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149038465C= | CA1590317363 | SH3TC2 | c.721G= c.831G= (p.Thr277=) c.93G= (p.Thr31=) c.*89G= (n.*89G=) n.298G= c.231G= (p.Thr77=) c.*611G= (n.*611G=) c.810G= (p.Thr270=) | |
| 5 | g.149038465C>G | CA447110124 | SH3TC2 | c.721G>C c.831G>C (p.Thr277=) c.93G>C (p.Thr31=) c.*89G>C (n.*89G>C) n.298G>C c.231G>C (p.Thr77=) c.*611G>C (n.*611G>C) c.810G>C (p.Thr270=) | |
| 5 | g.149038465C>T | CA3499368 | SH3TC2 | c.721G>A c.831G>A (p.Thr277=) c.93G>A (p.Thr31=) c.*89G>A (n.*89G>A) n.298G>A c.231G>A (p.Thr77=) c.*611G>A (n.*611G>A) c.810G>A (p.Thr270=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038466G>A | CA3499369 | SH3TC2 | c.720C>T c.830C>T (p.Thr277Met) c.92C>T (p.Thr31Met) c.*88C>T (n.*88C>T) n.297C>T c.230C>T (p.Thr77Met) c.*610C>T (n.*610C>T) c.809C>T (p.Thr270Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038466G>C | CA361673167 | SH3TC2 | c.720C>G c.830C>G (p.Thr277Arg) c.92C>G (p.Thr31Arg) c.*88C>G (n.*88C>G) n.297C>G c.230C>G (p.Thr77Arg) c.*610C>G (n.*610C>G) c.809C>G (p.Thr270Arg) | |
| 5 | g.149038466G= | CA1590317364 | SH3TC2 | c.720C= c.830C= (p.Thr277=) c.92C= (p.Thr31=) c.*88C= (n.*88C=) n.297C= c.230C= (p.Thr77=) c.*610C= (n.*610C=) c.809C= (p.Thr270=) | |
| 5 | g.149038466G>T | CA361673168 | SH3TC2 | c.720C>A c.830C>A (p.Thr277Lys) c.92C>A (p.Thr31Lys) c.*88C>A (n.*88C>A) n.297C>A c.230C>A (p.Thr77Lys) c.*610C>A (n.*610C>A) c.809C>A (p.Thr270Lys) | dbSNP |
| 5 | g.149038467T>A | CA361673171 | SH3TC2 | c.719A>T c.829A>T (p.Thr277Ser) c.91A>T (p.Thr31Ser) c.*87A>T (n.*87A>T) n.296A>T c.229A>T (p.Thr77Ser) c.*609A>T (n.*609A>T) c.808A>T (p.Thr270Ser) | |
| 5 | g.149038467T>C | CA361673175 | SH3TC2 | c.719A>G c.829A>G (p.Thr277Ala) c.91A>G (p.Thr31Ala) c.*87A>G (n.*87A>G) n.296A>G c.229A>G (p.Thr77Ala) c.*609A>G (n.*609A>G) c.808A>G (p.Thr270Ala) | |
| 5 | g.149038467T>G | CA361673173 | SH3TC2 | c.719A>C c.829A>C (p.Thr277Pro) c.91A>C (p.Thr31Pro) c.*87A>C (n.*87A>C) n.296A>C c.229A>C (p.Thr77Pro) c.*609A>C (n.*609A>C) c.808A>C (p.Thr270Pro) | |
| 5 | g.149038468C>A | CA361673178 | SH3TC2 | c.718G>T c.828G>T (p.Leu276Phe) c.90G>T (p.Leu30Phe) c.*86G>T (n.*86G>T) n.295G>T c.228G>T (p.Leu76Phe) c.*608G>T (n.*608G>T) c.807G>T (p.Leu269Phe) | gnomAD v4 |
| 5 | g.149038468C= | CA1590317365 | SH3TC2 | c.718G= c.828G= (p.Leu276=) c.90G= (p.Leu30=) c.*86G= (n.*86G=) n.295G= c.228G= (p.Leu76=) c.*608G= (n.*608G=) c.807G= (p.Leu269=) | |
| 5 | g.149038468C>G | CA361673180 | SH3TC2 | c.718G>C c.828G>C (p.Leu276Phe) c.90G>C (p.Leu30Phe) c.*86G>C (n.*86G>C) n.295G>C c.228G>C (p.Leu76Phe) c.*608G>C (n.*608G>C) c.807G>C (p.Leu269Phe) | ClinVar dbSNP |
| 5 | g.149038468C>T | CA447110134 | SH3TC2 | c.718G>A c.828G>A (p.Leu276=) c.90G>A (p.Leu30=) c.*86G>A (n.*86G>A) n.295G>A c.228G>A (p.Leu76=) c.*608G>A (n.*608G>A) c.807G>A (p.Leu269=) | dbSNP gnomAD v4 |
| 5 | g.149038469A>C | CA361673182 | SH3TC2 | c.717T>G c.827T>G (p.Leu276Trp) c.89T>G (p.Leu30Trp) c.*85T>G (n.*85T>G) n.294T>G c.227T>G (p.Leu76Trp) c.*607T>G (n.*607T>G) c.806T>G (p.Leu269Trp) | |
| 5 | g.149038469A>G | CA361673184 | SH3TC2 | c.717T>C c.827T>C (p.Leu276Ser) c.89T>C (p.Leu30Ser) c.*85T>C (n.*85T>C) n.294T>C c.227T>C (p.Leu76Ser) c.*607T>C (n.*607T>C) c.806T>C (p.Leu269Ser) | |
| 5 | g.149038469A>T | CA361673186 | SH3TC2 | c.717T>A c.827T>A (p.Leu276Ter) c.89T>A (p.Leu30Ter) c.*85T>A (n.*85T>A) n.294T>A c.227T>A (p.Leu76Ter) c.*607T>A (n.*607T>A) c.806T>A (p.Leu269Ter) | |
| 5 | g.149038470A= | CA1590317367 | SH3TC2 | c.716T= c.826T= (p.Leu276=) c.88T= (p.Leu30=) c.*84T= (n.*84T=) n.293T= c.226T= (p.Leu76=) c.*606T= (n.*606T=) c.805T= (p.Leu269=) | |
| 5 | g.149038470A>C | CA361673188 | SH3TC2 | c.716T>G c.826T>G (p.Leu276Val) c.88T>G (p.Leu30Val) c.*84T>G (n.*84T>G) n.293T>G c.226T>G (p.Leu76Val) c.*606T>G (n.*606T>G) c.805T>G (p.Leu269Val) | |
| 5 | g.149038470A>G | CA447110138 | SH3TC2 | c.716T>C c.826T>C (p.Leu276=) c.88T>C (p.Leu30=) c.*84T>C (n.*84T>C) n.293T>C c.226T>C (p.Leu76=) c.*606T>C (n.*606T>C) c.805T>C (p.Leu269=) | |
| 5 | g.149038470A>T | CA361673190 | SH3TC2 | c.716T>A c.826T>A (p.Leu276Met) c.88T>A (p.Leu30Met) c.*84T>A (n.*84T>A) n.293T>A c.226T>A (p.Leu76Met) c.*606T>A (n.*606T>A) c.805T>A (p.Leu269Met) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149038470_149038471delinsAG | CA1590317366 | SH3TC2 | c.715_716delinsCT c.825_826delinsCT (p.Ala275=) c.87_88delinsCT (p.Ala29=) c.*83_*84delinsCT (n.*83_*84delinsCT) n.292_293delinsCT c.225_226delinsCT (p.Ala75=) c.*605_*606delinsCT (n.*605_*606delinsCT) c.804_805delinsCT (p.Ala268=) | |
| 5 | g.149038471G>A | CA447110142 | SH3TC2 | c.715C>T c.825C>T (p.Ala275=) c.87C>T (p.Ala29=) c.*83C>T (n.*83C>T) n.292C>T c.225C>T (p.Ala75=) c.*605C>T (n.*605C>T) c.804C>T (p.Ala268=) | |
| 5 | g.149038471G>C | CA447110144 | SH3TC2 | c.715C>G c.825C>G (p.Ala275=) c.87C>G (p.Ala29=) c.*83C>G (n.*83C>G) n.292C>G c.225C>G (p.Ala75=) c.*605C>G (n.*605C>G) c.804C>G (p.Ala268=) | |
| 5 | g.149038471G>T | CA447110145 | SH3TC2 | c.715C>A c.825C>A (p.Ala275=) c.87C>A (p.Ala29=) c.*83C>A (n.*83C>A) n.292C>A c.225C>A (p.Ala75=) c.*605C>A (n.*605C>A) c.804C>A (p.Ala268=) | |
| 5 | g.149038472del | CA805472194 | SH3TC2 | c.715del c.825del (p.Leu276Ter) c.87del (p.Leu30Ter) c.*83del (n.*83del) n.292del c.225del (p.Leu76Ter) c.*605del (n.*605del) c.804del (p.Leu269Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149038472G>A | CA361673193 | SH3TC2 | c.714C>T c.824C>T (p.Ala275Val) c.86C>T (p.Ala29Val) c.*82C>T (n.*82C>T) n.291C>T c.224C>T (p.Ala75Val) c.*604C>T (n.*604C>T) c.803C>T (p.Ala268Val) | |
| 5 | g.149038472G>C | CA361673195 | SH3TC2 | c.714C>G c.824C>G (p.Ala275Gly) c.86C>G (p.Ala29Gly) c.*82C>G (n.*82C>G) n.291C>G c.224C>G (p.Ala75Gly) c.*604C>G (n.*604C>G) c.803C>G (p.Ala268Gly) | |
| 5 | g.149038472G>T | CA361673198 | SH3TC2 | c.714C>A c.824C>A (p.Ala275Asp) c.86C>A (p.Ala29Asp) c.*82C>A (n.*82C>A) n.291C>A c.224C>A (p.Ala75Asp) c.*604C>A (n.*604C>A) c.803C>A (p.Ala268Asp) | |
| 5 | g.149038473C>A | CA361673202 | SH3TC2 | c.713G>T c.823G>T (p.Ala275Ser) c.85G>T (p.Ala29Ser) c.*81G>T (n.*81G>T) n.290G>T c.223G>T (p.Ala75Ser) c.*603G>T (n.*603G>T) c.802G>T (p.Ala268Ser) | |
| 5 | g.149038473C>G | CA361673200 | SH3TC2 | c.713G>C c.823G>C (p.Ala275Pro) c.85G>C (p.Ala29Pro) c.*81G>C (n.*81G>C) n.290G>C c.223G>C (p.Ala75Pro) c.*603G>C (n.*603G>C) c.802G>C (p.Ala268Pro) | |
| 5 | g.149038473C>T | CA361673199 | SH3TC2 | c.713G>A c.823G>A (p.Ala275Thr) c.85G>A (p.Ala29Thr) c.*81G>A (n.*81G>A) n.290G>A c.223G>A (p.Ala75Thr) c.*603G>A (n.*603G>A) c.802G>A (p.Ala268Thr) | |
| 5 | g.149038474C>A | CA361673205 | SH3TC2 | c.712G>T c.822G>T (p.Lys274Asn) c.84G>T (p.Lys28Asn) c.*80G>T (n.*80G>T) n.289G>T c.222G>T (p.Lys74Asn) c.*602G>T (n.*602G>T) c.801G>T (p.Lys267Asn) | |
| 5 | g.149038474C= | CA1590317368 | SH3TC2 | c.712G= c.822G= (p.Lys274=) c.84G= (p.Lys28=) c.*80G= (n.*80G=) n.289G= c.222G= (p.Lys74=) c.*602G= (n.*602G=) c.801G= (p.Lys267=) | |
| 5 | g.149038474C>G | CA361673207 | SH3TC2 | c.712G>C c.822G>C (p.Lys274Asn) c.84G>C (p.Lys28Asn) c.*80G>C (n.*80G>C) n.289G>C c.222G>C (p.Lys74Asn) c.*602G>C (n.*602G>C) c.801G>C (p.Lys267Asn) | |
| 5 | g.149038474C>T | CA3499370 | SH3TC2 | c.712G>A c.822G>A (p.Lys274=) c.84G>A (p.Lys28=) c.*80G>A (n.*80G>A) n.289G>A c.222G>A (p.Lys74=) c.*602G>A (n.*602G>A) c.801G>A (p.Lys267=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149038475T>A | CA361673211 | SH3TC2 | c.711A>T c.821A>T (p.Lys274Met) c.83A>T (p.Lys28Met) c.*79A>T (n.*79A>T) n.288A>T c.221A>T (p.Lys74Met) c.*601A>T (n.*601A>T) c.800A>T (p.Lys267Met) | |
| 5 | g.149038475T>C | CA361673213 | SH3TC2 | c.711A>G c.821A>G (p.Lys274Arg) c.83A>G (p.Lys28Arg) c.*79A>G (n.*79A>G) n.288A>G c.221A>G (p.Lys74Arg) c.*601A>G (n.*601A>G) c.800A>G (p.Lys267Arg) | dbSNP |
| 5 | g.149038475T>G | CA361673215 | SH3TC2 | c.711A>C c.821A>C (p.Lys274Thr) c.83A>C (p.Lys28Thr) c.*79A>C (n.*79A>C) n.288A>C c.221A>C (p.Lys74Thr) c.*601A>C (n.*601A>C) c.800A>C (p.Lys267Thr) | |
| 5 | g.149038475T= | CA1590317369 | SH3TC2 | c.711A= c.821A= (p.Lys274=) c.83A= (p.Lys28=) c.*79A= (n.*79A=) n.288A= c.221A= (p.Lys74=) c.*601A= (n.*601A=) c.800A= (p.Lys267=) | |
| 5 | g.149038475_149038476insA | CA10584081 | SH3TC2 | c.710_711insT c.820_821insT (p.Lys274IlefsTer7) c.82_83insT (p.Lys28IlefsTer7) c.*78_*79insT (n.*78_*79insT) n.287_288insT c.220_221insT (p.Lys74IlefsTer7) c.*600_*601insT (n.*600_*601insT) c.799_800insT (p.Lys267IlefsTer7) | ClinVar dbSNP |
| 5 | g.149038476T>A | CA361673218 | SH3TC2 | c.710A>T c.820A>T (p.Lys274Ter) c.82A>T (p.Lys28Ter) c.*78A>T (n.*78A>T) n.287A>T c.220A>T (p.Lys74Ter) c.*600A>T (n.*600A>T) c.799A>T (p.Lys267Ter) | |
| 5 | g.149038476T>C | CA361673219 | SH3TC2 | c.710A>G c.820A>G (p.Lys274Glu) c.82A>G (p.Lys28Glu) c.*78A>G (n.*78A>G) n.287A>G c.220A>G (p.Lys74Glu) c.*600A>G (n.*600A>G) c.799A>G (p.Lys267Glu) | gnomAD v4 |
| 5 | g.149038476T>G | CA361673221 | SH3TC2 | c.710A>C c.820A>C (p.Lys274Gln) c.82A>C (p.Lys28Gln) c.*78A>C (n.*78A>C) n.287A>C c.220A>C (p.Lys74Gln) c.*600A>C (n.*600A>C) c.799A>C (p.Lys267Gln) | |
| 5 | g.149038476T= | CA1590317370 | SH3TC2 | c.710A= c.820A= (p.Lys274=) c.82A= (p.Lys28=) c.*78A= (n.*78A=) n.287A= c.220A= (p.Lys74=) c.*600A= (n.*600A=) c.799A= (p.Lys267=) | |
| 5 | g.149038477A>C | CA361673223 | SH3TC2 | c.709T>G c.819T>G (p.Cys273Trp) c.81T>G (p.Cys27Trp) c.*77T>G (n.*77T>G) n.286T>G c.219T>G (p.Cys73Trp) c.*599T>G (n.*599T>G) c.798T>G (p.Cys266Trp) | |
| 5 | g.149038477A>G | CA447110162 | SH3TC2 | c.709T>C c.819T>C (p.Cys273=) c.81T>C (p.Cys27=) c.*77T>C (n.*77T>C) n.286T>C c.219T>C (p.Cys73=) c.*599T>C (n.*599T>C) c.798T>C (p.Cys266=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149038477A>T | CA361673225 | SH3TC2 | c.709T>A c.819T>A (p.Cys273Ter) c.81T>A (p.Cys27Ter) c.*77T>A (n.*77T>A) n.286T>A c.219T>A (p.Cys73Ter) c.*599T>A (n.*599T>A) c.798T>A (p.Cys266Ter) | |
| 5 | g.149038477dup | CA1590317371 | SH3TC2 | c.709dup c.819dup (p.Lys274Ter) c.81dup (p.Lys28Ter) c.*77dup (n.*77dup) n.286dup c.219dup (p.Lys74Ter) c.*599dup (n.*599dup) c.798dup (p.Lys267Ter) | ClinVar dbSNP gnomAD v4 |