OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.70033407G>A | CA10439012 | EDA | c.803G>A (p.Gly268Asp) c.407G>A (p.Gly136Asp) c.794G>A (p.Gly265Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.70033407G>C | CA413448776 | EDA | c.803G>C (p.Gly268Ala) c.407G>C (p.Gly136Ala) c.794G>C (p.Gly265Ala) | |
| X | g.70033407G= | CA2435981285 | EDA | c.803G= (p.Gly268=) c.407G= (p.Gly136=) c.794G= (p.Gly265=) | |
| X | g.70033407G>T | CA413448777 | EDA | c.803G>T (p.Gly268Val) c.407G>T (p.Gly136Val) c.794G>T (p.Gly265Val) | ClinVar |
| X | g.70033408T>A | CA517013844 | EDA | c.804T>A (p.Gly268=) c.408T>A (p.Gly136=) c.795T>A (p.Gly265=) | |
| X | g.70033408T>C | CA10439013 | EDA | c.804T>C (p.Gly268=) c.408T>C (p.Gly136=) c.795T>C (p.Gly265=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70033408T>G | CA517013847 | EDA | c.804T>G (p.Gly268=) c.408T>G (p.Gly136=) c.795T>G (p.Gly265=) | |
| X | g.70033408T= | CA2435981286 | EDA | c.804T= (p.Gly268=) c.408T= (p.Gly136=) c.795T= (p.Gly265=) | |
| X | g.70033409G>A | CA413448778 | EDA | c.805G>A (p.Gly269Arg) c.409G>A c.796G>A (p.Gly266Arg) c.409G>A (p.Gly137Arg) | ClinVar |
| X | g.70033409G>C | CA413448779 | EDA | c.805G>C (p.Gly269Arg) c.409G>C c.796G>C (p.Gly266Arg) c.409G>C (p.Gly137Arg) | |
| X | g.70033409G>T | CA413448780 | EDA | c.805G>T (p.Gly269Ter) c.409G>T c.796G>T (p.Gly266Ter) c.409G>T (p.Gly137Ter) | |
| X | g.70033410G>A | CA413448782 | EDA | c.806G>A (p.Gly269Glu) c.410G>A c.797G>A (p.Gly266Glu) c.410G>A (p.Gly137Glu) | |
| X | g.70033410G>C | CA413448783 | EDA | c.806G>C (p.Gly269Ala) c.410G>C c.797G>C (p.Gly266Ala) c.410G>C (p.Gly137Ala) | |
| X | g.70033410G>T | CA413448781 | EDA | c.806G>T (p.Gly269Val) c.410G>T c.797G>T (p.Gly266Val) c.410G>T (p.Gly137Val) | |
| X | g.70033411A>C | CA517013855 | EDA | c.807A>C (p.Gly269=) c.798A>C (p.Gly266=) c.411A>C (p.Gly137=) | |
| X | g.70033411A>G | CA517013857 | EDA | c.807A>G (p.Gly269=) c.798A>G (p.Gly266=) c.411A>G (p.Gly137=) | |
| X | g.70033411A>T | CA517013859 | EDA | c.807A>T (p.Gly269=) c.798A>T (p.Gly266=) c.411A>T (p.Gly137=) | |
| X | g.70033412G>A | CA10439014 | EDA | c.808G>A (p.Val270Met) c.799G>A (p.Val267Met) c.412G>A (p.Val138Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70033412G>C | CA413448784 | EDA | c.808G>C (p.Val270Leu) c.799G>C (p.Val267Leu) c.412G>C (p.Val138Leu) | |
| X | g.70033412G= | CA2435981288 | EDA | c.808G= (p.Val270=) c.799G= (p.Val267=) c.412G= (p.Val138=) | |
| X | g.70033412G>T | CA413448785 | EDA | c.808G>T (p.Val270Leu) c.799G>T (p.Val267Leu) c.412G>T (p.Val138Leu) | |
| X | g.70033412_70033413delinsGT | CA2435981287 | EDA | c.808_809delinsGT (p.Val270=) c.799_800delinsGT (p.Val267=) c.412_413delinsGT (p.Val138=) | |
| X | g.70033413del | CA273143 | EDA | c.809del (p.Val270GlyfsTer10) c.800del (p.Val267GlyfsTer10) c.413del (p.Val138GlyfsTer10) | ClinVar dbSNP |
| X | g.70033413T>A | CA413448786 | EDA | c.809T>A (p.Val270Glu) c.800T>A (p.Val267Glu) c.413T>A (p.Val138Glu) | |
| X | g.70033413T>C | CA413448787 | EDA | c.809T>C (p.Val270Ala) c.800T>C (p.Val267Ala) c.413T>C (p.Val138Ala) | |
| X | g.70033413T>G | CA413448788 | EDA | c.809T>G (p.Val270Gly) c.800T>G (p.Val267Gly) c.413T>G (p.Val138Gly) | |
| X | g.70033414G>A | CA517013867 | EDA | c.810G>A (p.Val270=) c.801G>A (p.Val267=) c.414G>A (p.Val138=) | ClinVar |
| X | g.70033414G>C | CA517013868 | EDA | c.810G>C (p.Val270=) c.801G>C (p.Val267=) c.414G>C (p.Val138=) | gnomAD v4 |
| X | g.70033414G>T | CA517013870 | EDA | c.810G>T (p.Val270=) c.801G>T (p.Val267=) c.414G>T (p.Val138=) | |
| X | g.70033415C>A | CA413448789 | EDA | c.811C>A (p.Leu271Ile) c.802C>A (p.Leu268Ile) c.415C>A (p.Leu139Ile) | |
| X | g.70033415C>G | CA413448790 | EDA | c.811C>G (p.Leu271Val) c.802C>G (p.Leu268Val) c.415C>G (p.Leu139Val) | |
| X | g.70033415C>T | CA413448791 | EDA | c.811C>T (p.Leu271Phe) c.802C>T (p.Leu268Phe) c.415C>T (p.Leu139Phe) | |
| X | g.70033416T>A | CA413448792 | EDA | c.812T>A (p.Leu271His) c.803T>A (p.Leu268His) c.416T>A (p.Leu139His) | |
| X | g.70033416T>C | CA413448793 | EDA | c.812T>C (p.Leu271Pro) c.803T>C (p.Leu268Pro) c.416T>C (p.Leu139Pro) | |
| X | g.70033416T>G | CA413448794 | EDA | c.812T>G (p.Leu271Arg) c.803T>G (p.Leu268Arg) c.416T>G (p.Leu139Arg) | |
| X | g.70033417C>A | CA517013878 | EDA | c.813C>A (p.Leu271=) c.804C>A (p.Leu268=) c.417C>A (p.Leu139=) | |
| X | g.70033417C>G | CA517013880 | EDA | c.813C>G (p.Leu271=) c.804C>G (p.Leu268=) c.417C>G (p.Leu139=) | |
| X | g.70033417C>T | CA517013882 | EDA | c.813C>T (p.Leu271=) c.804C>T (p.Leu268=) c.417C>T (p.Leu139=) | gnomAD v4 COSMIC COSMIC |
| X | g.70033418A= | CA2435981289 | EDA | c.814A= (p.Asn272=) c.805A= (p.Asn269=) c.418A= (p.Asn140=) | |
| X | g.70033418A>C | CA413448796 | EDA | c.814A>C (p.Asn272His) c.805A>C (p.Asn269His) c.418A>C (p.Asn140His) | gnomAD v4 |
| X | g.70033418A>G | CA413448797 | EDA | c.814A>G (p.Asn272Asp) c.805A>G (p.Asn269Asp) c.418A>G (p.Asn140Asp) | ClinVar dbSNP |
| X | g.70033418A>T | CA413448795 | EDA | c.814A>T (p.Asn272Tyr) c.805A>T (p.Asn269Tyr) c.418A>T (p.Asn140Tyr) | |
| X | g.70033419A= | CA2435981290 | EDA | c.815A= (p.Asn272=) c.806A= (p.Asn269=) c.419A= (p.Asn140=) | |
| X | g.70033419A>C | CA413448798 | EDA | c.815A>C (p.Asn272Thr) c.806A>C (p.Asn269Thr) c.419A>C (p.Asn140Thr) | |
| X | g.70033419A>G | CA413448799 | EDA | c.815A>G (p.Asn272Ser) c.806A>G (p.Asn269Ser) c.419A>G (p.Asn140Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70033419A>T | CA413448800 | EDA | c.815A>T (p.Asn272Ile) c.806A>T (p.Asn269Ile) c.419A>T (p.Asn140Ile) | |
| X | g.70033420T>A | CA413448801 | EDA | c.816T>A (p.Asn272Lys) c.807T>A (p.Asn269Lys) c.420T>A (p.Asn140Lys) | |
| X | g.70033420T>C | CA517013888 | EDA | c.816T>C (p.Asn272=) c.807T>C (p.Asn269=) c.420T>C (p.Asn140=) | |
| X | g.70033420T>G | CA413448802 | EDA | c.816T>G (p.Asn272Lys) c.807T>G (p.Asn269Lys) c.420T>G (p.Asn140Lys) | |
| X | g.70033421G>A | CA413448805 | EDA | c.817G>A (p.Asp273Asn) c.808G>A (p.Asp270Asn) c.421G>A (p.Asp141Asn) | |
| X | g.70033421G>C | CA413448803 | EDA | c.817G>C (p.Asp273His) c.808G>C (p.Asp270His) c.421G>C (p.Asp141His) | |
| X | g.70033421G>T | CA413448804 | EDA | c.817G>T (p.Asp273Tyr) c.808G>T (p.Asp270Tyr) c.421G>T (p.Asp141Tyr) | COSMIC COSMIC |
| X | g.70033422A>C | CA413448806 | EDA | c.818A>C (p.Asp273Ala) c.809A>C (p.Asp270Ala) c.422A>C (p.Asp141Ala) | |
| X | g.70033422A>G | CA413448807 | EDA | c.818A>G (p.Asp273Gly) c.809A>G (p.Asp270Gly) c.422A>G (p.Asp141Gly) | |
| X | g.70033422A>T | CA413448808 | EDA | c.818A>T (p.Asp273Val) c.809A>T (p.Asp270Val) c.422A>T (p.Asp141Val) | |
| X | g.70033423C>A | CA413448809 | EDA | c.819C>A (p.Asp273Glu) c.810C>A (p.Asp270Glu) c.423C>A (p.Asp141Glu) | |
| X | g.70033423C>G | CA413448810 | EDA | c.819C>G (p.Asp273Glu) c.810C>G (p.Asp270Glu) c.423C>G (p.Asp141Glu) | |
| X | g.70033423C>T | CA517013899 | EDA | c.819C>T (p.Asp273=) c.810C>T (p.Asp270=) c.423C>T (p.Asp141=) | |
| X | g.70033424T>A | CA413448813 | EDA | c.820T>A (p.Trp274Arg) c.811T>A (p.Trp271Arg) c.424T>A (p.Trp142Arg) | |
| X | g.70033424T>C | CA413448812 | EDA | c.820T>C (p.Trp274Arg) c.811T>C (p.Trp271Arg) c.424T>C (p.Trp142Arg) | ClinVar |
| X | g.70033424T>G | CA413448811 | EDA | c.820T>G (p.Trp274Gly) c.811T>G (p.Trp271Gly) c.424T>G (p.Trp142Gly) | |
| X | g.70033424_70033425delinsTG | CA2435981291 | EDA | c.820_821delinsTG (p.Trp274=) c.811_812delinsTG (p.Trp271=) c.424_425delinsTG (p.Trp142=) | |
| X | g.70033425G>A | CA413448814 | EDA | c.821G>A (p.Trp274Ter) c.812G>A (p.Trp271Ter) c.425G>A (p.Trp142Ter) | |
| X | g.70033425G>C | CA413448815 | EDA | c.821G>C (p.Trp274Ser) c.812G>C (p.Trp271Ser) c.425G>C (p.Trp142Ser) | |
| X | g.70033425G>T | CA413448816 | EDA | c.821G>T (p.Trp274Leu) c.812G>T (p.Trp271Leu) c.425G>T (p.Trp142Leu) | |
| X | g.70033426del | CA261507 | EDA | c.822del (p.Trp274CysfsTer6) c.813del (p.Trp271CysfsTer6) c.426del (p.Trp142CysfsTer6) | ClinVar dbSNP |
| X | g.70033426G>A | CA273144 | EDA | c.822G>A (p.Trp274Ter) c.813G>A (p.Trp271Ter) c.426G>A (p.Trp142Ter) | ClinVar dbSNP |
| X | g.70033426G>C | CA413448817 | EDA | c.822G>C (p.Trp274Cys) c.813G>C (p.Trp271Cys) c.426G>C (p.Trp142Cys) | |
| X | g.70033426G= | CA2435981292 | EDA | c.822G= (p.Trp274=) c.813G= (p.Trp271=) c.426G= (p.Trp142=) | |
| X | g.70033426G>T | CA261505 | EDA | c.822G>T (p.Trp274Cys) c.813G>T (p.Trp271Cys) c.426G>T (p.Trp142Cys) | ClinVar dbSNP |
| X | g.70033427T>A | CA413448818 | EDA | c.823T>A (p.Ser275Thr) c.814T>A (p.Ser272Thr) c.427T>A (p.Ser143Thr) | |
| X | g.70033427T>C | CA413448819 | EDA | c.823T>C (p.Ser275Pro) c.814T>C (p.Ser272Pro) c.427T>C (p.Ser143Pro) | |
| X | g.70033427T>G | CA413448820 | EDA | c.823T>G (p.Ser275Ala) c.814T>G (p.Ser272Ala) c.427T>G (p.Ser143Ala) | |
| X | g.70033428C>A | CA413448821 | EDA | c.824C>A (p.Ser275Tyr) c.815C>A (p.Ser272Tyr) c.428C>A (p.Ser143Tyr) | |
| X | g.70033428C>G | CA413448822 | EDA | c.824C>G (p.Ser275Cys) c.815C>G (p.Ser272Cys) c.428C>G (p.Ser143Cys) | |
| X | g.70033428C>T | CA413448823 | EDA | c.824C>T (p.Ser275Phe) c.815C>T (p.Ser272Phe) c.428C>T (p.Ser143Phe) | |
| X | g.70033429T>A | CA517013917 | EDA | c.825T>A (p.Ser275=) c.816T>A (p.Ser272=) c.429T>A (p.Ser143=) | |
| X | g.70033429T>C | CA517013918 | EDA | c.825T>C (p.Ser275=) c.816T>C (p.Ser272=) c.429T>C (p.Ser143=) | |
| X | g.70033429T>G | CA517013919 | EDA | c.825T>G (p.Ser275=) c.816T>G (p.Ser272=) c.429T>G (p.Ser143=) | |
| X | g.70033430C>A | CA413448824 | EDA | c.826C>A (p.Arg276Ser) c.817C>A (p.Arg273Ser) c.430C>A (p.Arg144Ser) | |
| X | g.70033430C= | CA2435981293 | EDA | c.826C= (p.Arg276=) c.817C= (p.Arg273=) c.430C= (p.Arg144=) | |
| X | g.70033430C>G | CA413448825 | EDA | c.826C>G (p.Arg276Gly) c.817C>G (p.Arg273Gly) c.430C>G (p.Arg144Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.70033430C>T | CA260052 | EDA | c.826C>T (p.Arg276Cys) c.817C>T (p.Arg273Cys) c.430C>T (p.Arg144Cys) | ClinVar dbSNP |
| X | g.70033431G>A | CA413448826 | EDA | c.827G>A (p.Arg276His) c.818G>A (p.Arg273His) c.431G>A (p.Arg144His) | dbSNP gnomAD v4 |
| X | g.70033431G>C | CA413448827 | EDA | c.827G>C (p.Arg276Pro) c.818G>C (p.Arg273Pro) c.431G>C (p.Arg144Pro) | ClinVar |
| X | g.70033431G= | CA2435981294 | EDA | c.827G= (p.Arg276=) c.818G= (p.Arg273=) c.431G= (p.Arg144=) | |
| X | g.70033431G>T | CA16043276 | EDA | c.827G>T (p.Arg276Leu) c.818G>T (p.Arg273Leu) c.431G>T (p.Arg144Leu) | ClinVar dbSNP |
| X | g.70033432C>A | CA517013930 | EDA | c.828C>A (p.Arg276=) c.819C>A (p.Arg273=) c.432C>A (p.Arg144=) | |
| X | g.70033432C>G | CA517013927 | EDA | c.828C>G (p.Arg276=) c.819C>G (p.Arg273=) c.432C>G (p.Arg144=) | |
| X | g.70033432C>T | CA517013926 | EDA | c.828C>T (p.Arg276=) c.819C>T (p.Arg273=) c.432C>T (p.Arg144=) | |
| X | g.70033433A= | CA2435981295 | EDA | c.829A= (p.Ile277=) c.820A= (p.Ile274=) c.433A= (p.Ile145=) | |
| X | g.70033433A>C | CA413448828 | EDA | c.829A>C (p.Ile277Leu) c.820A>C (p.Ile274Leu) c.433A>C (p.Ile145Leu) | gnomAD v4 |
| X | g.70033433A>G | CA413448829 | EDA | c.829A>G (p.Ile277Val) c.820A>G (p.Ile274Val) c.433A>G (p.Ile145Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70033433A>T | CA413448830 | EDA | c.829A>T (p.Ile277Phe) c.820A>T (p.Ile274Phe) c.433A>T (p.Ile145Phe) | |
| X | g.70033434T>A | CA413448831 | EDA | c.830T>A (p.Ile277Asn) c.821T>A (p.Ile274Asn) c.434T>A (p.Ile145Asn) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70033434T>C | CA413448833 | EDA | c.830T>C (p.Ile277Thr) c.821T>C (p.Ile274Thr) c.434T>C (p.Ile145Thr) | |
| X | g.70033434T>G | CA413448832 | EDA | c.830T>G (p.Ile277Ser) c.821T>G (p.Ile274Ser) c.434T>G (p.Ile145Ser) | |
| X | g.70033434T= | CA2435981296 | EDA | c.830T= (p.Ile277=) c.821T= (p.Ile274=) c.434T= (p.Ile145=) | |
| X | g.70033435del | CA2695234454 | EDA | c.831del (p.Thr278LeufsTer2) c.822del (p.Thr275LeufsTer2) c.435del (p.Thr146LeufsTer2) | |
| X | g.70033435C>A | CA517013937 | EDA | c.831C>A (p.Ile277=) c.822C>A (p.Ile274=) c.435C>A (p.Ile145=) | |
| X | g.70033435C>G | CA413448834 | EDA | c.831C>G (p.Ile277Met) c.822C>G (p.Ile274Met) c.435C>G (p.Ile145Met) | |
| X | g.70033435C>T | CA517013941 | EDA | c.831C>T (p.Ile277=) c.822C>T (p.Ile274=) c.435C>T (p.Ile145=) | ClinVar |
| X | g.70033436A>C | CA413448835 | EDA | c.832A>C (p.Thr278Pro) c.823A>C (p.Thr275Pro) c.436A>C (p.Thr146Pro) | |
| X | g.70033436A>G | CA413448836 | EDA | c.832A>G (p.Thr278Ala) c.823A>G (p.Thr275Ala) c.436A>G (p.Thr146Ala) | gnomAD v4 |
| X | g.70033436A>T | CA413448837 | EDA | c.832A>T (p.Thr278Ser) c.823A>T (p.Thr275Ser) c.436A>T (p.Thr146Ser) | |
| X | g.70033437C>A | CA413448839 | EDA | c.833C>A (p.Thr278Asn) c.824C>A (p.Thr275Asn) c.437C>A (p.Thr146Asn) | |
| X | g.70033437C= | CA2435981297 | EDA | c.833C= (p.Thr278=) c.824C= (p.Thr275=) c.437C= (p.Thr146=) | |
| X | g.70033437C>G | CA10439015 | EDA | c.833C>G (p.Thr278Ser) c.824C>G (p.Thr275Ser) c.437C>G (p.Thr146Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70033437C>T | CA413448838 | EDA | c.833C>T (p.Thr278Ile) c.824C>T (p.Thr275Ile) c.437C>T (p.Thr146Ile) | |
| X | g.70033438T>A | CA517013951 | EDA | c.834T>A (p.Thr278=) c.825T>A (p.Thr275=) c.438T>A (p.Thr146=) | |
| X | g.70033438T>C | CA10439016 | EDA | c.834T>C (p.Thr278=) c.825T>C (p.Thr275=) c.438T>C (p.Thr146=) | dbSNP ExAC |
| X | g.70033438T>G | CA10439017 | EDA | c.834T>G (p.Thr278=) c.825T>G (p.Thr275=) c.438T>G (p.Thr146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70033438T= | CA2435981298 | EDA | c.834T= (p.Thr278=) c.825T= (p.Thr275=) c.438T= (p.Thr146=) | |
| X | g.70033439A>C | CA413448840 | EDA | c.835A>C (p.Met279Leu) c.826A>C (p.Met276Leu) c.439A>C (p.Met147Leu) | |
| X | g.70033439A>G | CA413448842 | EDA | c.835A>G (p.Met279Val) c.826A>G (p.Met276Val) c.439A>G (p.Met147Val) | gnomAD v4 |
| X | g.70033439A>T | CA413448841 | EDA | c.835A>T (p.Met279Leu) c.826A>T (p.Met276Leu) c.439A>T (p.Met147Leu) | |
| X | g.70033440T>A | CA413448843 | EDA | c.836T>A (p.Met279Lys) c.827T>A (p.Met276Lys) c.440T>A (p.Met147Lys) | |
| X | g.70033440T>C | CA413448845 | EDA | c.836T>C (p.Met279Thr) c.827T>C (p.Met276Thr) c.440T>C (p.Met147Thr) | |
| X | g.70033440T>G | CA413448844 | EDA | c.836T>G (p.Met279Arg) c.827T>G (p.Met276Arg) c.440T>G (p.Met147Arg) | ClinVar |
| X | g.70033441G>A | CA413448846 | EDA | c.837G>A (p.Met279Ile) c.828G>A (p.Met276Ile) c.441G>A (p.Met147Ile) | ClinVar |
| X | g.70033441G>C | CA413448847 | EDA | c.837G>C (p.Met279Ile) c.828G>C (p.Met276Ile) c.441G>C (p.Met147Ile) | |
| X | g.70033441G>T | CA413448848 | EDA | c.837G>T (p.Met279Ile) c.828G>T (p.Met276Ile) c.441G>T (p.Met147Ile) | |
| X | g.70033442A>C | CA413448849 | EDA | c.838A>C (p.Asn280His) c.829A>C (p.Asn277His) c.442A>C (p.Asn148His) | |
| X | g.70033442A>G | CA413448850 | EDA | c.838A>G (p.Asn280Asp) c.829A>G (p.Asn277Asp) c.442A>G (p.Asn148Asp) | |
| X | g.70033442A>T | CA413448851 | EDA | c.838A>T (p.Asn280Tyr) c.829A>T (p.Asn277Tyr) c.442A>T (p.Asn148Tyr) | |
| X | g.70033443A>C | CA413448852 | EDA | c.839A>C (p.Asn280Thr) c.830A>C (p.Asn277Thr) c.443A>C (p.Asn148Thr) | |
| X | g.70033443A>G | CA413448853 | EDA | c.839A>G (p.Asn280Ser) c.830A>G (p.Asn277Ser) c.443A>G (p.Asn148Ser) | |
| X | g.70033443A>T | CA413448854 | EDA | c.839A>T (p.Asn280Ile) c.830A>T (p.Asn277Ile) c.443A>T (p.Asn148Ile) | |
| X | g.70033444C>A | CA413448855 | EDA | c.840C>A (p.Asn280Lys) c.831C>A (p.Asn277Lys) c.444C>A (p.Asn148Lys) | |
| X | g.70033444C>G | CA413448856 | EDA | c.840C>G (p.Asn280Lys) c.831C>G (p.Asn277Lys) c.444C>G (p.Asn148Lys) | |
| X | g.70033444C>T | CA517013977 | EDA | c.840C>T (p.Asn280=) c.831C>T (p.Asn277=) c.444C>T (p.Asn148=) | |
| X | g.70033445C>A | CA413448859 | EDA | c.841C>A (p.Pro281Thr) c.832C>A (p.Pro278Thr) c.445C>A (p.Pro149Thr) | |
| X | g.70033445C>G | CA413448858 | EDA | c.841C>G (p.Pro281Ala) c.832C>G (p.Pro278Ala) c.445C>G (p.Pro149Ala) | |
| X | g.70033445C>T | CA413448857 | EDA | c.841C>T (p.Pro281Ser) c.832C>T (p.Pro278Ser) c.445C>T (p.Pro149Ser) | |
| X | g.70033446C>A | CA413448860 | EDA | c.842C>A (p.Pro281His) c.833C>A (p.Pro278His) c.446C>A (p.Pro149His) | |
| X | g.70033446C>G | CA413448861 | EDA | c.842C>G (p.Pro281Arg) c.833C>G (p.Pro278Arg) c.446C>G (p.Pro149Arg) | |
| X | g.70033446C>T | CA413448862 | EDA | c.842C>T (p.Pro281Leu) c.833C>T (p.Pro278Leu) c.446C>T (p.Pro149Leu) | |
| X | g.70033447C>A | CA517013985 | EDA | c.843C>A (p.Pro281=) c.834C>A (p.Pro278=) c.447C>A (p.Pro149=) | |
| X | g.70033447C>G | CA517013987 | EDA | c.843C>G (p.Pro281=) c.834C>G (p.Pro278=) c.447C>G (p.Pro149=) | |
| X | g.70033447C>T | CA517013989 | EDA | c.843C>T (p.Pro281=) c.834C>T (p.Pro278=) c.447C>T (p.Pro149=) | |
| X | g.70033448A>C | CA413448863 | EDA | c.844A>C (p.Lys282Gln) c.835A>C (p.Lys279Gln) c.448A>C (p.Lys150Gln) | |
| X | g.70033448A>G | CA413448864 | EDA | c.844A>G (p.Lys282Glu) c.835A>G (p.Lys279Glu) c.448A>G (p.Lys150Glu) | |
| X | g.70033448A>T | CA413448865 | EDA | c.844A>T (p.Lys282Ter) c.835A>T (p.Lys279Ter) c.448A>T (p.Lys150Ter) | |
| X | g.70033449A= | CA2435981299 | EDA | c.845A= (p.Lys282=) c.836A= (p.Lys279=) c.449A= (p.Lys150=) | |
| X | g.70033449A>C | CA413448866 | EDA | c.845A>C (p.Lys282Thr) c.836A>C (p.Lys279Thr) c.449A>C (p.Lys150Thr) | |
| X | g.70033449A>G | CA10439018 | EDA | c.845A>G (p.Lys282Arg) c.836A>G (p.Lys279Arg) c.449A>G (p.Lys150Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.70033449A>T | CA413448867 | EDA | c.845A>T (p.Lys282Met) c.836A>T (p.Lys279Met) c.449A>T (p.Lys150Met) | |
| X | g.70033450G>A | CA517014014 | EDA | c.846G>A (p.Lys282=) c.837G>A (p.Lys279=) c.450G>A (p.Lys150=) | |
| X | g.70033450G>C | CA413448868 | EDA | c.846G>C (p.Lys282Asn) c.837G>C (p.Lys279Asn) c.450G>C (p.Lys150Asn) | |
| X | g.70033450G>T | CA413448869 | EDA | c.846G>T (p.Lys282Asn) c.837G>T (p.Lys279Asn) c.450G>T (p.Lys150Asn) | |
| X | g.70033451G>A | CA413448872 | EDA | c.847G>A (p.Val283Met) c.838G>A (p.Val280Met) c.451G>A (p.Val151Met) | dbSNP |
| X | g.70033451G>C | CA413448871 | EDA | c.847G>C (p.Val283Leu) c.838G>C (p.Val280Leu) c.451G>C (p.Val151Leu) | |
| X | g.70033451G= | CA2435981300 | EDA | c.847G= (p.Val283=) c.838G= (p.Val280=) c.451G= (p.Val151=) | |
| X | g.70033451G>T | CA413448870 | EDA | c.847G>T (p.Val283Leu) c.838G>T (p.Val280Leu) c.451G>T (p.Val151Leu) | ClinVar |
| X | g.70033452T>A | CA413448873 | EDA | c.848T>A (p.Val283Glu) c.839T>A (p.Val280Glu) c.452T>A (p.Val151Glu) | |
| X | g.70033452T>C | CA413448874 | EDA | c.848T>C (p.Val283Ala) c.839T>C (p.Val280Ala) c.452T>C (p.Val151Ala) | |
| X | g.70033452T>G | CA413448875 | EDA | c.848T>G (p.Val283Gly) c.839T>G (p.Val280Gly) c.452T>G (p.Val151Gly) | |
| X | g.70033453G>A | CA517014028 | EDA | c.849G>A (p.Val283=) c.840G>A (p.Val280=) c.453G>A (p.Val151=) | |
| X | g.70033453G>C | CA517014029 | EDA | c.849G>C (p.Val283=) c.840G>C (p.Val280=) c.453G>C (p.Val151=) | |
| X | g.70033453G>T | CA517014032 | EDA | c.849G>T (p.Val283=) c.840G>T (p.Val280=) c.453G>T (p.Val151=) | |
| X | g.70033454T>A | CA413448876 | EDA | c.850T>A (p.Phe284Ile) c.841T>A (p.Phe281Ile) c.454T>A (p.Phe152Ile) | |
| X | g.70033454T>C | CA413448877 | EDA | c.850T>C (p.Phe284Leu) c.841T>C (p.Phe281Leu) c.454T>C (p.Phe152Leu) | |
| X | g.70033454T>G | CA413448878 | EDA | c.850T>G (p.Phe284Val) c.841T>G (p.Phe281Val) c.454T>G (p.Phe152Val) | |
| X | g.70033455T>A | CA413448879 | EDA | c.851T>A (p.Phe284Tyr) c.842T>A (p.Phe281Tyr) c.455T>A (p.Phe152Tyr) | |
| X | g.70033455T>C | CA413448880 | EDA | c.851T>C (p.Phe284Ser) c.842T>C (p.Phe281Ser) c.455T>C (p.Phe152Ser) | |
| X | g.70033455T>G | CA413448881 | EDA | c.851T>G (p.Phe284Cys) c.842T>G (p.Phe281Cys) c.455T>G (p.Phe152Cys) | |
| X | g.70033456T>A | CA413448882 | EDA | c.852T>A (p.Phe284Leu) c.843T>A (p.Phe281Leu) c.456T>A (p.Phe152Leu) | |
| X | g.70033456T>C | CA517014045 | EDA | c.852T>C (p.Phe284=) c.843T>C (p.Phe281=) c.456T>C (p.Phe152=) | ClinVar dbSNP |
| X | g.70033456T>G | CA413448883 | EDA | c.852T>G (p.Phe284Leu) c.843T>G (p.Phe281Leu) c.456T>G (p.Phe152Leu) | |
| X | g.70033457A= | CA2435981301 | EDA | c.853A= (p.Lys285=) c.844A= (p.Lys282=) c.457A= (p.Lys153=) | |
| X | g.70033457A>C | CA413448886 | EDA | c.853A>C (p.Lys285Gln) c.844A>C (p.Lys282Gln) c.457A>C (p.Lys153Gln) | |
| X | g.70033457A>G | CA413448885 | EDA | c.853A>G (p.Lys285Glu) c.844A>G (p.Lys282Glu) c.457A>G (p.Lys153Glu) | ClinVar dbSNP |
| X | g.70033457A>T | CA413448884 | EDA | c.853A>T (p.Lys285Ter) c.844A>T (p.Lys282Ter) c.457A>T (p.Lys153Ter) | |
| X | g.70033458A>C | CA413448887 | EDA | c.854A>C (p.Lys285Thr) c.845A>C (p.Lys282Thr) c.458A>C (p.Lys153Thr) | |
| X | g.70033458A>G | CA413448888 | EDA | c.854A>G (p.Lys285Arg) c.845A>G (p.Lys282Arg) c.458A>G (p.Lys153Arg) | |
| X | g.70033458A>T | CA413448889 | EDA | c.854A>T (p.Lys285Met) c.845A>T (p.Lys282Met) c.458A>T (p.Lys153Met) | |
| X | g.70033459del | CA2695234455 | EDA | c.855del (p.Lys285AsnfsTer23) c.855del (p.Lys285AsnfsTer?) c.846del (p.Lys282AsnfsTer?) c.459del (p.Lys153AsnfsTer23) c.846del (p.Lys282AsnfsTer23) | |
| X | g.70033459G>A | CA517014062 | EDA | c.855G>A (p.Lys285=) c.846G>A (p.Lys282=) c.459G>A (p.Lys153=) | |
| X | g.70033459G>C | CA413448890 | EDA | c.855G>C (p.Lys285Asn) c.846G>C (p.Lys282Asn) c.459G>C (p.Lys153Asn) | |
| X | g.70033459G>T | CA413448891 | EDA | c.855G>T (p.Lys285Asn) c.846G>T (p.Lys282Asn) c.459G>T (p.Lys153Asn) | |
| X | g.70033460C>A | CA413448892 | EDA | c.856C>A (p.Leu286Ile) c.847C>A (p.Leu283Ile) c.460C>A (p.Leu154Ile) | gnomAD v4 |
| X | g.70033460C= | CA2435981302 | EDA | c.856C= (p.Leu286=) c.847C= (p.Leu283=) c.460C= (p.Leu154=) | |
| X | g.70033460C>G | CA413448893 | EDA | c.856C>G (p.Leu286Val) c.847C>G (p.Leu283Val) c.460C>G (p.Leu154Val) | |
| X | g.70033460C>T | CA517014067 | EDA | c.856C>T (p.Leu286=) c.847C>T (p.Leu283=) c.460C>T (p.Leu154=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70033461T>A | CA413448894 | EDA | c.857T>A (p.Leu286Gln) c.848T>A (p.Leu283Gln) c.461T>A (p.Leu154Gln) | |
| X | g.70033461T>C | CA413448895 | EDA | c.857T>C (p.Leu286Pro) c.848T>C (p.Leu283Pro) c.461T>C (p.Leu154Pro) | |
| X | g.70033461T>G | CA413448896 | EDA | c.857T>G (p.Leu286Arg) c.848T>G (p.Leu283Arg) c.461T>G (p.Leu154Arg) | |
| X | g.70033462A>C | CA517014073 | EDA | c.858A>C (p.Leu286=) c.849A>C (p.Leu283=) c.462A>C (p.Leu154=) | |
| X | g.70033462A>G | CA517014075 | EDA | c.858A>G (p.Leu286=) c.849A>G (p.Leu283=) c.462A>G (p.Leu154=) | ClinVar dbSNP |
| X | g.70033462A>T | CA517014076 | EDA | c.858A>T (p.Leu286=) c.849A>T (p.Leu283=) c.462A>T (p.Leu154=) | |
| X | g.70033463C>A | CA413448897 | EDA | c.859C>A (p.His287Asn) c.850C>A (p.His284Asn) c.463C>A (p.His155Asn) | |
| X | g.70033463C>G | CA413448898 | EDA | c.859C>G (p.His287Asp) c.850C>G (p.His284Asp) c.463C>G (p.His155Asp) | |
| X | g.70033463C>T | CA413448899 | EDA | c.859C>T (p.His287Tyr) c.850C>T (p.His284Tyr) c.463C>T (p.His155Tyr) | |
| X | g.70033464A>C | CA413448902 | EDA | c.860A>C (p.His287Pro) c.851A>C (p.His284Pro) c.464A>C (p.His155Pro) | |
| X | g.70033464A>G | CA413448901 | EDA | c.860A>G (p.His287Arg) c.851A>G (p.His284Arg) c.464A>G (p.His155Arg) | |
| X | g.70033464A>T | CA413448900 | EDA | c.860A>T (p.His287Leu) c.851A>T (p.His284Leu) c.464A>T (p.His155Leu) | |
| X | g.70033465T>A | CA413448904 | EDA | c.861T>A (p.His287Gln) c.852T>A (p.His284Gln) c.465T>A (p.His155Gln) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70033465T>C | CA517014085 | EDA | c.861T>C (p.His287=) c.852T>C (p.His284=) c.465T>C (p.His155=) | |
| X | g.70033465T>G | CA413448903 | EDA | c.861T>G (p.His287Gln) c.852T>G (p.His284Gln) c.465T>G (p.His155Gln) | |
| X | g.70033465T= | CA2435981303 | EDA | c.861T= (p.His287=) c.852T= (p.His284=) c.465T= (p.His155=) | |
| X | g.70033466C>A | CA413448907 | EDA | c.862C>A (p.Pro288Thr) c.853C>A (p.Pro285Thr) c.466C>A (p.Pro156Thr) | |
| X | g.70033466C>G | CA413448905 | EDA | c.862C>G (p.Pro288Ala) c.853C>G (p.Pro285Ala) c.466C>G (p.Pro156Ala) | |
| X | g.70033466C>T | CA413448906 | EDA | c.862C>T (p.Pro288Ser) c.853C>T (p.Pro285Ser) c.466C>T (p.Pro156Ser) | |
| X | g.70033469del | CA2579632551 | EDA | c.865del (p.Arg289AlafsTer19) c.865del (p.Arg289AlafsTer?) c.856del (p.Arg286AlafsTer?) c.469del (p.Arg157AlafsTer19) c.856del (p.Arg286AlafsTer19) | ClinVar |
| X | g.70033467C>A | CA413448908 | EDA | c.863C>A (p.Pro288His) c.854C>A (p.Pro285His) c.467C>A (p.Pro156His) | |
| X | g.70033467C>G | CA413448909 | EDA | c.863C>G (p.Pro288Arg) c.854C>G (p.Pro285Arg) c.467C>G (p.Pro156Arg) | |
| X | g.70033467C>T | CA413448910 | EDA | c.863C>T (p.Pro288Leu) c.854C>T (p.Pro285Leu) c.467C>T (p.Pro156Leu) | |
| X | g.70033468C>A | CA517014092 | EDA | c.864C>A (p.Pro288=) c.855C>A (p.Pro285=) c.468C>A (p.Pro156=) | |
| X | g.70033468C= | CA2435981304 | EDA | c.864C= (p.Pro288=) c.855C= (p.Pro285=) c.468C= (p.Pro156=) | |
| X | g.70033468C>G | CA517014094 | EDA | c.864C>G (p.Pro288=) c.855C>G (p.Pro285=) c.468C>G (p.Pro156=) | |
| X | g.70033468C>T | CA517014097 | EDA | c.864C>T (p.Pro288=) c.855C>T (p.Pro285=) c.468C>T (p.Pro156=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.70033469C>A | CA413448911 | EDA | c.865C>A (p.Arg289Ser) c.856C>A (p.Arg286Ser) c.469C>A (p.Arg157Ser) | |
| X | g.70033469C= | CA2435981305 | EDA | c.865C= (p.Arg289=) c.856C= (p.Arg286=) c.469C= (p.Arg157=) | |
| X | g.70033469C>G | CA413448912 | EDA | c.865C>G (p.Arg289Gly) c.856C>G (p.Arg286Gly) c.469C>G (p.Arg157Gly) | |
| X | g.70033469C>T | CA10586173 | EDA | c.865C>T (p.Arg289Cys) c.856C>T (p.Arg286Cys) c.469C>T (p.Arg157Cys) | ClinVar dbSNP COSMIC COSMIC |
| X | g.70033469_70033470insTATC | CA642457277 | EDA | c.865_866insTATC (p.Arg289LeufsTer18) c.856_857insTATC (p.Arg286LeufsTer18) c.469_470insTATC (p.Arg157LeufsTer18) c.865_866insTATC (p.Arg289LeufsTer15) | gnomAD v2 |
| X | g.70033470G>A | CA10577177 | EDA | c.866G>A (p.Arg289His) c.857G>A (p.Arg286His) c.470G>A (p.Arg157His) | ClinVar dbSNP gnomAD v4 |
| X | g.70033470G>C | CA413448913 | EDA | c.866G>C (p.Arg289Pro) c.857G>C (p.Arg286Pro) c.470G>C (p.Arg157Pro) | dbSNP gnomAD v2 |
| X | g.[70033470G>C;70033472A>T] | CA2580573382 | EDA | c.[866G>C;868A>T] (p.[Arg289Pro;Ser290Cys]) c.[857G>C;859A>T] (p.Arg286_Ser287delinsProCys) c.[470G>C;472A>T] (p.Arg157_Ser158delinsProCys) c.[857G>C;859A>T] (p.[Arg286Pro;Ser287Cys]) | |
| X | g.70033470G= | CA2435981306 | EDA | c.866G= (p.Arg289=) c.857G= (p.Arg286=) c.470G= (p.Arg157=) | |
| X | g.70033470G>T | CA413448914 | EDA | c.866G>T (p.Arg289Leu) c.857G>T (p.Arg286Leu) c.470G>T (p.Arg157Leu) | |
| X | g.70033470_70033471delinsAA | CA2435981307 | EDA | c.866_867delinsAA (p.Arg289Gln) c.857_858delinsAA (p.Arg286Gln) c.470_471delinsAA (p.Arg157Gln) | ClinVar dbSNP |
| X | g.70033470_70033471delinsGC | CA2435981308 | EDA | c.866_867delinsGC (p.Arg289=) c.857_858delinsGC (p.Arg286=) c.470_471delinsGC (p.Arg157=) | |
| X | g.70033470_70033472delinsCCT | CA2695234456 | EDA | c.866_868delinsCCT (p.Arg289_Ser290delinsProCys) c.857_859delinsCCT (p.Arg286_Ser287delinsProCys) c.470_472delinsCCT (p.Arg157_Ser158delinsProCys) | |
| X | g.70033471C>A | CA517014106 | EDA | c.867C>A (p.Arg289=) c.858C>A (p.Arg286=) c.471C>A (p.Arg157=) | ClinVar dbSNP gnomAD v4 |
| X | g.70033471C= | CA2435981309 | EDA | c.867C= (p.Arg289=) c.858C= (p.Arg286=) c.471C= (p.Arg157=) | |
| X | g.70033471C>G | CA517014108 | EDA | c.867C>G (p.Arg289=) c.858C>G (p.Arg286=) c.471C>G (p.Arg157=) | |
| X | g.70033471C>T | CA517014110 | EDA | c.867C>T (p.Arg289=) c.858C>T (p.Arg286=) c.471C>T (p.Arg157=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.70033472A>C | CA413448917 | EDA | c.868A>C (p.Ser290Arg) c.859A>C (p.Ser287Arg) c.472A>C (p.Ser158Arg) | |
| X | g.70033472A>G | CA413448916 | EDA | c.868A>G (p.Ser290Gly) c.859A>G (p.Ser287Gly) c.472A>G (p.Ser158Gly) | |
| X | g.70033472A>T | CA413448915 | EDA | c.868A>T (p.Ser290Cys) c.859A>T (p.Ser287Cys) c.472A>T (p.Ser158Cys) | dbSNP |
| X | g.70033473G>A | CA413448918 | EDA | c.869G>A (p.Ser290Asn) c.860G>A (p.Ser287Asn) c.473G>A (p.Ser158Asn) | gnomAD v4 |
| X | g.70033473G>C | CA413448919 | EDA | c.869G>C (p.Ser290Thr) c.860G>C (p.Ser287Thr) c.473G>C (p.Ser158Thr) | |
| X | g.70033473G>T | CA413448920 | EDA | c.869G>T (p.Ser290Ile) c.860G>T (p.Ser287Ile) c.473G>T (p.Ser158Ile) | |
| X | g.70033474C>A | CA413448921 | EDA | c.870C>A (p.Ser290Arg) c.861C>A (p.Ser287Arg) c.474C>A (p.Ser158Arg) | |
| X | g.70033474C= | CA2435981310 | EDA | c.870C= (p.Ser290=) c.861C= (p.Ser287=) c.474C= (p.Ser158=) | |
| X | g.70033474C>G | CA413448922 | EDA | c.870C>G (p.Ser290Arg) c.861C>G (p.Ser287Arg) c.474C>G (p.Ser158Arg) | |
| X | g.70033474C>T | CA10439019 | EDA | c.870C>T (p.Ser290=) c.861C>T (p.Ser287=) c.474C>T (p.Ser158=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70033475G>A | CA261508 | EDA | c.871G>A (p.Gly291Arg) c.862G>A (p.Gly288Arg) c.475G>A (p.Gly159Arg) | ClinVar dbSNP gnomAD v4 |
| X | g.70033475G>C | CA413448923 | EDA | c.871G>C (p.Gly291Arg) c.862G>C (p.Gly288Arg) c.475G>C (p.Gly159Arg) | ClinVar |
| X | g.70033475G= | CA2435981311 | EDA | c.871G= (p.Gly291=) c.862G= (p.Gly288=) c.475G= (p.Gly159=) | |
| X | g.70033475G>T | CA413448924 | EDA | c.871G>T (p.Gly291Trp) c.862G>T (p.Gly288Trp) c.475G>T (p.Gly159Trp) | |
| X | g.70033476G>A | CA10603736 | EDA | c.872G>A (p.Gly291Glu) c.863G>A (p.Gly288Glu) c.476G>A (p.Gly159Glu) | ClinVar dbSNP |
| X | g.70033476G>C | CA413448925 | EDA | c.872G>C (p.Gly291Ala) c.863G>C (p.Gly288Ala) c.476G>C (p.Gly159Ala) | |
| X | g.70033476G= | CA2435981312 | EDA | c.872G= (p.Gly291=) c.863G= (p.Gly288=) c.476G= (p.Gly159=) | |
| X | g.70033476G>T | CA413448926 | EDA | c.872G>T (p.Gly291Val) c.863G>T (p.Gly288Val) c.476G>T (p.Gly159Val) | ClinVar |
| X | g.70033476_70033494delinsGGGAGCTGGAGGTACTGGT | CA2435981313 | EDA | c.872_890delinsGGGAGCTGGAGGTACTGGT (p.Gly291=) c.863_881delinsGGGAGCTGGAGGTACTGGT (p.Gly288=) c.476_494delinsGGGAGCTGGAGGTACTGGT (p.Gly159=) c.872_882+8delinsGGGAGCTGGAGGTACTGGT | |
| X | g.70033477G>A | CA517014129 | EDA | c.873G>A (p.Gly291=) c.864G>A (p.Gly288=) c.477G>A (p.Gly159=) | ClinVar |
| X | g.70033477G>C | CA517014131 | EDA | c.873G>C (p.Gly291=) c.864G>C (p.Gly288=) c.477G>C (p.Gly159=) | |
| X | g.70033477G>T | CA517014133 | EDA | c.873G>T (p.Gly291=) c.864G>T (p.Gly288=) c.477G>T (p.Gly159=) | |
| X | g.70033480_70033497del | CA915951155 | EDA | c.876_893del (p.Glu292_Val297del) c.867_884del (p.Glu289_Val294del) c.480_497del (p.Glu160_Val165del) c.876_882+11del | ClinVar dbSNP |
| X | g.70033479_70033500del | CA2695234457 | EDA | c.875_896del (p.Glu292AlafsTer9) c.875_896del (p.Glu292AlafsTer?) c.866_887del (p.Glu289AlafsTer?) c.479_500del (p.Glu160AlafsTer9) c.866_887del (p.Glu289AlafsTer9) c.875_882+14del | |
| X | g.70033478G>A | CA413448928 | EDA | c.874G>A (p.Glu292Lys) c.865G>A (p.Glu289Lys) c.478G>A (p.Glu160Lys) | COSMIC |
| X | g.70033478G>C | CA413448929 | EDA | c.874G>C (p.Glu292Gln) c.865G>C (p.Glu289Gln) c.478G>C (p.Glu160Gln) | |
| X | g.70033478G>T | CA413448927 | EDA | c.874G>T (p.Glu292Ter) c.865G>T (p.Glu289Ter) c.478G>T (p.Glu160Ter) | |
| X | g.70033479A>C | CA413448930 | EDA | c.875A>C (p.Glu292Ala) c.866A>C (p.Glu289Ala) c.479A>C (p.Glu160Ala) | |
| X | g.70033479A>G | CA413448931 | EDA | c.875A>G (p.Glu292Gly) c.866A>G (p.Glu289Gly) c.479A>G (p.Glu160Gly) | |
| X | g.70033479A>T | CA413448932 | EDA | c.875A>T (p.Glu292Val) c.866A>T (p.Glu289Val) c.479A>T (p.Glu160Val) | |
| X | g.70033480G>A | CA517014141 | EDA | c.876G>A (p.Glu292=) c.867G>A (p.Glu289=) c.480G>A (p.Glu160=) | gnomAD v4 |
| X | g.70033480G>C | CA413448933 | EDA | c.876G>C (p.Glu292Asp) c.867G>C (p.Glu289Asp) c.480G>C (p.Glu160Asp) | |
| X | g.70033480G>T | CA413448934 | EDA | c.876G>T (p.Glu292Asp) c.867G>T (p.Glu289Asp) c.480G>T (p.Glu160Asp) | |
| X | g.70033481C>A | CA413448935 | EDA | c.877C>A (p.Leu293Met) c.868C>A (p.Leu290Met) c.481C>A (p.Leu161Met) | |
| X | g.70033481C= | CA2435981314 | EDA | c.877C= (p.Leu293=) c.868C= (p.Leu290=) c.481C= (p.Leu161=) | |
| X | g.70033481C>G | CA413448936 | EDA | c.877C>G (p.Leu293Val) c.868C>G (p.Leu290Val) c.481C>G (p.Leu161Val) | |
| X | g.70033481C>T | CA517014146 | EDA | c.877C>T (p.Leu293=) c.868C>T (p.Leu290=) c.481C>T (p.Leu161=) | dbSNP gnomAD v4 |
| X | g.70033482T>A | CA413448937 | EDA | c.878T>A (p.Leu293Gln) c.869T>A (p.Leu290Gln) c.482T>A (p.Leu161Gln) | |
| X | g.70033482T>C | CA413448939 | EDA | c.878T>C (p.Leu293Pro) c.869T>C (p.Leu290Pro) c.482T>C (p.Leu161Pro) | |
| X | g.70033482T>G | CA413448938 | EDA | c.878T>G (p.Leu293Arg) c.869T>G (p.Leu290Arg) c.482T>G (p.Leu161Arg) | ClinVar |
| X | g.70033483G>A | CA10439020 | EDA | c.879G>A (p.Leu293=) c.870G>A (p.Leu290=) c.483G>A (p.Leu161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.70033483G>C | CA517014153 | EDA | c.879G>C (p.Leu293=) c.870G>C (p.Leu290=) c.483G>C (p.Leu161=) | |
| X | g.70033483G= | CA2435981315 | EDA | c.879G= (p.Leu293=) c.870G= (p.Leu290=) c.483G= (p.Leu161=) | |
| X | g.70033483G>T | CA517014155 | EDA | c.879G>T (p.Leu293=) c.870G>T (p.Leu290=) c.483G>T (p.Leu161=) | |
| X | g.70033484G>A | CA413448940 | EDA | c.880G>A (p.Glu294Lys) c.871G>A (p.Glu291Lys) c.484G>A (p.Glu162Lys) | |
| X | g.70033484G>C | CA413448941 | EDA | c.880G>C (p.Glu294Gln) c.871G>C (p.Glu291Gln) c.484G>C (p.Glu162Gln) | |
| X | g.70033484G>T | CA413448942 | EDA | c.880G>T (p.Glu294Ter) c.871G>T (p.Glu291Ter) c.484G>T (p.Glu162Ter) | |
| X | g.70033485A= | CA2435981316 | EDA | c.881A= (p.Glu294=) c.872A= (p.Glu291=) c.485A= (p.Glu162=) | |
| X | g.70033485A>C | CA413448943 | EDA | c.881A>C (p.Glu294Ala) c.872A>C (p.Glu291Ala) c.485A>C (p.Glu162Ala) | |
| X | g.70033485A>G | CA413448944 | EDA | c.881A>G (p.Glu294Gly) c.872A>G (p.Glu291Gly) c.485A>G (p.Glu162Gly) | |
| X | g.70033485A>T | CA133757 | EDA | c.881A>T (p.Glu294Val) c.872A>T (p.Glu291Val) c.485A>T (p.Glu162Val) | ClinVar dbSNP |
| X | g.70033486_70033489del | CA2695234458 | EDA | c.882_885del (p.Glu294AspfsTer13) c.882_885del (p.Glu294AspfsTer?) c.873_876del (p.Glu291AspfsTer?) c.486_489del (p.Glu162AspfsTer13) c.873_876del (p.Glu291AspfsTer13) c.882_882+3del | |
| X | g.70033486G>A | CA517014164 | EDA | c.882G>A (p.Glu294=) c.873G>A (p.Glu291=) c.486G>A (p.Glu162=) | gnomAD v4 |
| X | g.70033486G>C | CA413448945 | EDA | c.882G>C (p.Glu294Asp) c.873G>C (p.Glu291Asp) c.486G>C (p.Glu162Asp) | |
| X | g.70033486G>T | CA413448946 | EDA | c.882G>T (p.Glu294Asp) c.873G>T (p.Glu291Asp) c.486G>T (p.Glu162Asp) | |
| X | g.70033487del | CA2739273563 | EDA | c.883del (p.Val295TyrfsTer13) c.883del (p.Val295TyrfsTer?) c.874del (p.Val292TyrfsTer?) c.487del (p.Val163TyrfsTer13) c.874del (p.Val292TyrfsTer13) c.882+1del | ClinVar |
| X | g.70033489_70033494del | CA2573159014 | EDA | c.885_890del (p.Leu296_Val297del) c.876_881del (p.Leu293_Val294del) c.489_494del (p.Leu164_Val165del) c.882+3_882+8del | ClinVar dbSNP |
| X | g.70033487G>A | CA413448947 | EDA | c.883G>A (p.Val295Ile) c.874G>A (p.Val292Ile) c.487G>A (p.Val163Ile) c.882+1G>A (n.882+1G>A) | |
| X | g.70033487G>C | CA413448948 | EDA | c.883G>C (p.Val295Leu) c.874G>C (p.Val292Leu) c.487G>C (p.Val163Leu) c.882+1G>C (n.882+1G>C) | |
| X | g.70033487G>T | CA413448949 | EDA | c.883G>T (p.Val295Leu) c.874G>T (p.Val292Leu) c.487G>T (p.Val163Leu) c.882+1G>T (n.882+1G>T) | |
| X | g.70033488del | CA2695234459 | EDA | c.884del (p.Val295AspfsTer13) c.884del (p.Val295AspfsTer?) c.875del (p.Val292AspfsTer?) c.488del (p.Val163AspfsTer13) c.875del (p.Val292AspfsTer13) c.882+2del (n.882+2del) | |
| X | g.70033488T>A | CA413448950 | EDA | c.884T>A (p.Val295Glu) c.875T>A (p.Val292Glu) c.488T>A (p.Val163Glu) c.882+2T>A (n.882+2T>A) | |
| X | g.70033488T>C | CA413448951 | EDA | c.884T>C (p.Val295Ala) c.875T>C (p.Val292Ala) c.488T>C (p.Val163Ala) c.882+2T>C (n.882+2T>C) | |
| X | g.70033488T>G | CA413448952 | EDA | c.884T>G (p.Val295Gly) c.875T>G (p.Val292Gly) c.488T>G (p.Val163Gly) c.882+2T>G (n.882+2T>G) | |
| X | g.70033489A>C | CA517014178 | EDA | c.885A>C (p.Val295=) c.876A>C (p.Val292=) c.489A>C (p.Val163=) c.882+3A>C (n.882+3A>C) | |
| X | g.70033489A>G | CA517014180 | EDA | c.885A>G (p.Val295=) c.876A>G (p.Val292=) c.489A>G (p.Val163=) c.882+3A>G (n.882+3A>G) | ClinVar |
| X | g.70033489A>T | CA517014181 | EDA | c.885A>T (p.Val295=) c.876A>T (p.Val292=) c.489A>T (p.Val163=) c.882+3A>T (n.882+3A>T) | |
| X | g.70033490C>A | CA413448953 | EDA | c.886C>A (p.Leu296Met) c.877C>A (p.Leu293Met) c.490C>A (p.Leu164Met) c.882+4C>A (n.882+4C>A) | |
| X | g.70033490C= | CA2435981317 | EDA | c.886C= (p.Leu296=) c.877C= (p.Leu293=) c.490C= (p.Leu164=) c.882+4C= (n.882+4C=) | |
| X | g.70033490C>G | CA413448954 | EDA | c.886C>G (p.Leu296Val) c.877C>G (p.Leu293Val) c.490C>G (p.Leu164Val) c.882+4C>G (n.882+4C>G) | |
| X | g.70033490C>T | CA517014186 | EDA | c.886C>T (p.Leu296=) c.877C>T (p.Leu293=) c.490C>T (p.Leu164=) c.882+4C>T (n.882+4C>T) | ClinVar dbSNP gnomAD v4 |
| X | g.70033492_70033505del | CA2695234460 | EDA | c.888_901del (p.Val297LeufsTer4) c.879_892del (p.Val294LeufsTer4) c.492_505del (p.Val165LeufsTer4) c.882+6_882+19del (n.882+6_882+19del) | |
| X | g.70033491T>A | CA413448955 | EDA | c.887T>A (p.Leu296Gln) c.878T>A (p.Leu293Gln) c.491T>A (p.Leu164Gln) c.882+5T>A (n.882+5T>A) | |
| X | g.70033491T>C | CA413448956 | EDA | c.887T>C (p.Leu296Pro) c.878T>C (p.Leu293Pro) c.491T>C (p.Leu164Pro) c.882+5T>C (n.882+5T>C) | |
| X | g.70033491T>G | CA413448957 | EDA | c.887T>G (p.Leu296Arg) c.878T>G (p.Leu293Arg) c.491T>G (p.Leu164Arg) c.882+5T>G (n.882+5T>G) | |
| X | g.70033492G>A | CA517014196 | EDA | c.888G>A (p.Leu296=) c.879G>A (p.Leu293=) c.492G>A (p.Leu164=) c.882+6G>A (n.882+6G>A) | |
| X | g.70033492G>C | CA517014194 | EDA | c.888G>C (p.Leu296=) c.879G>C (p.Leu293=) c.492G>C (p.Leu164=) c.882+6G>C (n.882+6G>C) | |
| X | g.70033492G>T | CA517014192 | EDA | c.888G>T (p.Leu296=) c.879G>T (p.Leu293=) c.492G>T (p.Leu164=) c.882+6G>T (n.882+6G>T) | |
| X | g.70033493G>A | CA413448959 | EDA | c.889G>A (p.Val297Met) c.880G>A (p.Val294Met) c.493G>A (p.Val165Met) c.882+7G>A (n.882+7G>A) | |
| X | g.70033493G>C | CA413448960 | EDA | c.889G>C (p.Val297Leu) c.880G>C (p.Val294Leu) c.493G>C (p.Val165Leu) c.882+7G>C (n.882+7G>C) | |
| X | g.70033493G>T | CA413448958 | EDA | c.889G>T (p.Val297Leu) c.880G>T (p.Val294Leu) c.493G>T (p.Val165Leu) c.882+7G>T (n.882+7G>T) | |
| X | g.70033493_70033502del | CA2580101370 | EDA | c.889_898del (p.Val297ProfsTer8) c.889_898del (p.Val297ProfsTer?) c.880_889del (p.Val294ProfsTer?) c.493_502del (p.Val165ProfsTer8) c.880_889del (p.Val294ProfsTer8) c.882+7_882+16del (n.882+7_882+16del) | ClinVar |
| X | g.70033494T>A | CA413448961 | EDA | c.890T>A (p.Val297Glu) c.881T>A (p.Val294Glu) c.494T>A (p.Val165Glu) c.882+8T>A (n.882+8T>A) | |
| X | g.70033494T>C | CA10439021 | EDA | c.890T>C (p.Val297Ala) c.881T>C (p.Val294Ala) c.494T>C (p.Val165Ala) c.882+8T>C (n.882+8T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.70033494T>G | CA413448962 | EDA | c.890T>G (p.Val297Gly) c.881T>G (p.Val294Gly) c.494T>G (p.Val165Gly) c.882+8T>G (n.882+8T>G) | |
| X | g.70033494T= | CA2435981318 | EDA | c.890T= (p.Val297=) c.881T= (p.Val294=) c.494T= (p.Val165=) c.882+8T= (n.882+8T=) | |
| X | g.70033495G>A | CA517014206 | EDA | c.891G>A (p.Val297=) c.882G>A (p.Val294=) c.495G>A (p.Val165=) c.882+9G>A (n.882+9G>A) | |
| X | g.70033495G>C | CA517014208 | EDA | c.891G>C (p.Val297=) c.882G>C (p.Val294=) c.495G>C (p.Val165=) c.882+9G>C (n.882+9G>C) | |
| X | g.70033495G>T | CA517014211 | EDA | c.891G>T (p.Val297=) c.882G>T (p.Val294=) c.495G>T (p.Val165=) c.882+9G>T (n.882+9G>T) | |
| X | g.70033496G>A | CA413448963 | EDA | c.892G>A (p.Asp298Asn) c.883G>A (p.Asp295Asn) c.496G>A (p.Asp166Asn) c.882+10G>A (n.882+10G>A) | |
| X | g.70033496G>C | CA413448964 | EDA | c.892G>C (p.Asp298His) c.883G>C (p.Asp295His) c.496G>C (p.Asp166His) c.882+10G>C (n.882+10G>C) | |
| X | g.70033496G>T | CA413448965 | EDA | c.892G>T (p.Asp298Tyr) c.883G>T (p.Asp295Tyr) c.496G>T (p.Asp166Tyr) c.882+10G>T (n.882+10G>T) | |
| X | g.70033497A>C | CA413448966 | EDA | c.893A>C (p.Asp298Ala) c.884A>C (p.Asp295Ala) c.497A>C (p.Asp166Ala) c.882+11A>C (n.882+11A>C) | |
| X | g.70033497A>G | CA413448967 | EDA | c.893A>G (p.Asp298Gly) c.884A>G (p.Asp295Gly) c.497A>G (p.Asp166Gly) c.882+11A>G (n.882+11A>G) | |
| X | g.70033497A>T | CA413448968 | EDA | c.893A>T (p.Asp298Val) c.884A>T (p.Asp295Val) c.497A>T (p.Asp166Val) c.882+11A>T (n.882+11A>T) | |
| X | g.70033498C>A | CA413448970 | EDA | c.894C>A (p.Asp298Glu) c.885C>A (p.Asp295Glu) c.498C>A (p.Asp166Glu) c.882+12C>A (n.882+12C>A) | |
| X | g.70033498C= | CA2435981319 | EDA | c.894C= (p.Asp298=) c.885C= (p.Asp295=) c.498C= (p.Asp166=) c.882+12C= (n.882+12C=) | |
| X | g.70033498C>G | CA413448969 | EDA | c.894C>G (p.Asp298Glu) c.885C>G (p.Asp295Glu) c.498C>G (p.Asp166Glu) c.882+12C>G (n.882+12C>G) | |
| X | g.70033498C>T | CA517014219 | EDA | c.894C>T (p.Asp298=) c.885C>T (p.Asp295=) c.498C>T (p.Asp166=) c.882+12C>T (n.882+12C>T) | ClinVar dbSNP gnomAD v4 |
| X | g.70033499G>A | CA261509 | EDA | c.895G>A (p.Gly299Ser) c.886G>A (p.Gly296Ser) c.499G>A (p.Gly167Ser) c.882+13G>A (n.882+13G>A) | ClinVar dbSNP |
| X | g.70033499G>C | CA413448971 | EDA | c.895G>C (p.Gly299Arg) c.886G>C (p.Gly296Arg) c.499G>C (p.Gly167Arg) c.882+13G>C (n.882+13G>C) | |
| X | g.70033499G= | CA2435981320 | EDA | c.895G= (p.Gly299=) c.886G= (p.Gly296=) c.499G= (p.Gly167=) c.882+13G= (n.882+13G=) | |
| X | g.70033499G>T | CA413448972 | EDA | c.895G>T (p.Gly299Cys) c.886G>T (p.Gly296Cys) c.499G>T (p.Gly167Cys) c.882+13G>T (n.882+13G>T) | ClinVar |
| X | g.70033500G>A | CA413448973 | EDA | c.896G>A (p.Gly299Asp) c.887G>A (p.Gly296Asp) c.500G>A (p.Gly167Asp) c.882+14G>A (n.882+14G>A) | ClinVar dbSNP |
| X | g.70033500G>C | CA413448974 | EDA | c.896G>C (p.Gly299Ala) c.887G>C (p.Gly296Ala) c.500G>C (p.Gly167Ala) c.882+14G>C (n.882+14G>C) | |
| X | g.70033500G>T | CA413448975 | EDA | c.896G>T (p.Gly299Val) c.887G>T (p.Gly296Val) c.500G>T (p.Gly167Val) c.882+14G>T (n.882+14G>T) | |
| X | g.70033501C>A | CA517014228 | EDA | c.897C>A (p.Gly299=) c.888C>A (p.Gly296=) c.501C>A (p.Gly167=) c.882+15C>A (n.882+15C>A) | |
| X | g.70033501C>G | CA517014230 | EDA | c.897C>G (p.Gly299=) c.888C>G (p.Gly296=) c.501C>G (p.Gly167=) c.882+15C>G (n.882+15C>G) | |
| X | g.70033501C>T | CA517014231 | EDA | c.897C>T (p.Gly299=) c.888C>T (p.Gly296=) c.501C>T (p.Gly167=) c.882+15C>T (n.882+15C>T) | ClinVar |
| X | g.70033502_70033536del | CA2695234461 | EDA | c.898_924+8del c.898_918+14del c.889_909+14del c.502_528+8del c.889_915+8del c.882+16_882+50del (n.882+16_882+50del) | |
| X | g.70033502A= | CA2435981321 | EDA | c.898A= (p.Thr300=) c.889A= (p.Thr297=) c.502A= (p.Thr168=) c.882+16A= (n.882+16A=) | |
| X | g.70033502A>C | CA413448976 | EDA | c.898A>C (p.Thr300Pro) c.889A>C (p.Thr297Pro) c.502A>C (p.Thr168Pro) c.882+16A>C (n.882+16A>C) | |
| X | g.70033502A>G | CA413448978 | EDA | c.898A>G (p.Thr300Ala) c.889A>G (p.Thr297Ala) c.502A>G (p.Thr168Ala) c.882+16A>G (n.882+16A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.70033502A>T | CA413448977 | EDA | c.898A>T (p.Thr300Ser) c.889A>T (p.Thr297Ser) c.502A>T (p.Thr168Ser) c.882+16A>T (n.882+16A>T) | |
| X | g.70033503C>A | CA413448979 | EDA | c.899C>A (p.Thr300Asn) c.890C>A (p.Thr297Asn) c.503C>A (p.Thr168Asn) c.882+17C>A (n.882+17C>A) | |
| X | g.70033503C>G | CA413448980 | EDA | c.899C>G (p.Thr300Ser) c.890C>G (p.Thr297Ser) c.503C>G (p.Thr168Ser) c.882+17C>G (n.882+17C>G) | |
| X | g.70033503C>T | CA413448981 | EDA | c.899C>T (p.Thr300Ile) c.890C>T (p.Thr297Ile) c.503C>T (p.Thr168Ile) c.882+17C>T (n.882+17C>T) | |
| X | g.70033504C>A | CA517014241 | EDA | c.900C>A (p.Thr300=) c.891C>A (p.Thr297=) c.504C>A (p.Thr168=) c.882+18C>A (n.882+18C>A) | |
| X | g.70033504C>G | CA517014244 | EDA | c.900C>G (p.Thr300=) c.891C>G (p.Thr297=) c.504C>G (p.Thr168=) c.882+18C>G (n.882+18C>G) | |
| X | g.70033504C>T | CA517014246 | EDA | c.900C>T (p.Thr300=) c.891C>T (p.Thr297=) c.504C>T (p.Thr168=) c.882+18C>T (n.882+18C>T) | |
| X | g.70033505T>A | CA413448982 | EDA | c.901T>A (p.Tyr301Asn) c.892T>A (p.Tyr298Asn) c.505T>A (p.Tyr169Asn) c.882+19T>A (n.882+19T>A) | |
| X | g.70033505T>C | CA413448983 | EDA | c.901T>C (p.Tyr301His) c.892T>C (p.Tyr298His) c.505T>C (p.Tyr169His) c.882+19T>C (n.882+19T>C) | |
| X | g.70033505T>G | CA413448984 | EDA | c.901T>G (p.Tyr301Asp) c.892T>G (p.Tyr298Asp) c.505T>G (p.Tyr169Asp) c.882+19T>G (n.882+19T>G) | ClinVar dbSNP |
| X | g.70033505T= | CA2435981322 | EDA | c.901T= (p.Tyr301=) c.892T= (p.Tyr298=) c.505T= (p.Tyr169=) c.882+19T= (n.882+19T=) | |
| X | g.70033506_70033509del | CA2695234462 | EDA | c.902_905del (p.Tyr301SerfsTer6) c.902_905del (p.Tyr301SerfsTer?) c.893_896del (p.Tyr298SerfsTer?) c.506_509del (p.Tyr169SerfsTer6) c.893_896del (p.Tyr298SerfsTer6) c.882+20_882+23del (n.882+20_882+23del) | |
| X | g.70033506A= | CA2435981323 | EDA | c.902A= (p.Tyr301=) c.893A= (p.Tyr298=) c.506A= (p.Tyr169=) c.882+20A= (n.882+20A=) | |
| X | g.70033506A>C | CA413448986 | EDA | c.902A>C (p.Tyr301Ser) c.893A>C (p.Tyr298Ser) c.506A>C (p.Tyr169Ser) c.882+20A>C (n.882+20A>C) | |
| X | g.70033506A>G | CA261510 | EDA | c.902A>G (p.Tyr301Cys) c.893A>G (p.Tyr298Cys) c.506A>G (p.Tyr169Cys) c.882+20A>G (n.882+20A>G) | ClinVar dbSNP |
| X | g.70033506A>T | CA413448988 | EDA | c.902A>T (p.Tyr301Phe) c.893A>T (p.Tyr298Phe) c.506A>T (p.Tyr169Phe) c.882+20A>T (n.882+20A>T) | |
| X | g.70033507C>A | CA413448990 | EDA | c.903C>A (p.Tyr301Ter) c.894C>A (p.Tyr298Ter) c.507C>A (p.Tyr169Ter) c.882+21C>A (n.882+21C>A) | |
| X | g.70033507C= | CA2435981324 | EDA | c.903C= (p.Tyr301=) c.894C= (p.Tyr298=) c.507C= (p.Tyr169=) c.882+21C= (n.882+21C=) | |
| X | g.70033507C>G | CA413448992 | EDA | c.903C>G (p.Tyr301Ter) c.894C>G (p.Tyr298Ter) c.507C>G (p.Tyr169Ter) c.882+21C>G (n.882+21C>G) | |
| X | g.70033507C>T | CA517014255 | EDA | c.903C>T (p.Tyr301=) c.894C>T (p.Tyr298=) c.507C>T (p.Tyr169=) c.882+21C>T (n.882+21C>T) | dbSNP gnomAD v2 gnomAD v4 |