Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.85328483_85328508delinsAAAAATTATTATTTTACTGGATTATGCA1799276165CA1c.*52_*77delinsCATAATCCAGTAAAATAATAATTTTT (n.*52_*77delinsCATAATCCAGTAAAATAATAATTTTT)
8g.85328484_85328508delCA1799276166CA1c.*52_*76del (n.*52_*76del)
 dbSNP
8g.85328506A=CA1799276169CA1c.*54T= (n.*54T=)
c.589T=
8g.85328506A>GCA180229316CA1c.*54T>C (n.*54T>C)
c.589T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.85328508G>ACA2579197611CA1c.*52C>T (n.*52C>T)
c.587C>T
8g.85328508G>TCA2687785980CA1c.*52C>A (n.*52C>A)
c.587C>A
 gnomAD v4
8g.85328510C>ACA2579197612CA1c.*50G>T (n.*50G>T)
c.585G>T
 gnomAD v4
8g.85328510C=CA1799276170CA1c.*50G= (n.*50G=)
c.585G=
8g.85328510C>GCA1116115726CA1c.*50G>C (n.*50G>C)
c.585G>C
 dbSNP gnomAD v3 gnomAD v4
8g.85328510C>TCA2687785981CA1c.*50G>A (n.*50G>A)
c.585G>A
 gnomAD v4
8g.85328511A>GCA2579197613CA1c.*49T>C (n.*49T>C)
c.584T>C
 gnomAD v4
8g.85328512G>ACA2687785982CA1c.*48C>T (n.*48C>T)
c.583C>T
 gnomAD v4
8g.85328514A=CA1799276171CA1c.*46T= (n.*46T=)
c.581T=
8g.85328514A>GCA1799276172CA1c.*46T>C (n.*46T>C)
c.581T>C
 dbSNP gnomAD v4
8g.85328515G>ACA4795834CA1c.*45C>T (n.*45C>T)
c.580C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.85328515G=CA1799276173CA1c.*45C= (n.*45C=)
c.580C=
8g.85328515G>TCA2579197614CA1c.*45C>A (n.*45C>A)
c.580C>A
 gnomAD v4
8g.85328516C>ACA4795835CA1c.*44G>T (n.*44G>T)
c.579G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.85328516C=CA1799276174CA1c.*44G= (n.*44G=)
c.579G=
8g.85328516C>TCA2687785983CA1c.*44G>A (n.*44G>A)
c.579G>A
 gnomAD v4
8g.85328518G>CCA2687785984CA1c.*42C>G (n.*42C>G)
c.577C>G
 gnomAD v4
8g.85328518G>TCA2687785985CA1c.*42C>A (n.*42C>A)
c.577C>A
 gnomAD v4
8g.85328519G>ACA2687785986CA1c.*41C>T (n.*41C>T)
c.576C>T
 gnomAD v4
8g.85328519G>TCA2579197615CA1c.*41C>A (n.*41C>A)
c.576C>A
 gnomAD v4
8g.85328520G>ACA2579197616CA1c.*40C>T (n.*40C>T)
c.575C>T
8g.85328520G>TCA2687785987CA1c.*40C>A (n.*40C>A)
c.575C>A
 gnomAD v4
8g.85328521C>ACA2687785988CA1c.*39G>T (n.*39G>T)
c.574G>T
 gnomAD v4
8g.85328521C=CA1799276175CA1c.*39G= (n.*39G=)
c.574G=
8g.85328522T>CCA582888975CA1c.*38A>G (n.*38A>G)
c.573A>G
 dbSNP gnomAD v2 gnomAD v4
8g.85328522T=CA1799276177CA1c.*38A= (n.*38A=)
c.573A=
8g.85328522_85328524dupCA1799276176CA1c.*36_*38dup (n.*36_*38dup)
c.571_573dup
 dbSNP
8g.85328523G>ACA2687785989CA1c.*37C>T (n.*37C>T)
c.572C>T
 gnomAD v4
8g.85328523G>TCA2579197617CA1c.*37C>A (n.*37C>A)
c.572C>A
8g.85328525G>ACA4795836CA1c.*35C>T (n.*35C>T)
c.570C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.85328525G=CA1799276178CA1c.*35C= (n.*35C=)
c.570C=
8g.85328525G>TCA2687785990CA1c.*35C>A (n.*35C>A)
c.570C>A
 gnomAD v4
8g.85328530T>CCA856249516CA1c.*30A>G (n.*30A>G)
c.565A>G
 dbSNP
8g.85328530T>GCA2579197618CA1c.*30A>C (n.*30A>C)
c.565A>C
 gnomAD v4
8g.85328530T=CA1799276179CA1c.*30A= (n.*30A=)
c.565A=
8g.85328531G=CA1799276180CA1c.*29C= (n.*29C=)
c.564C=
8g.85328531G>TCA1799276181CA1c.*29C>A (n.*29C>A)
c.564C>A
 dbSNP gnomAD v4
8g.85328532A>GCA2687785991CA1c.*28T>C (n.*28T>C)
c.563T>C
 gnomAD v4
8g.85328533G>ACA1799276183CA1c.*27C>T (n.*27C>T)
c.562C>T
 dbSNP gnomAD v4
8g.85328533G>CCA180229321CA1c.*27C>G (n.*27C>G)
c.562C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.85328533G=CA1799276182CA1c.*27C= (n.*27C=)
c.562C=
8g.85328533G>TCA2687785992CA1c.*27C>A (n.*27C>A)
c.562C>A
 gnomAD v4
8g.85328534G>TCA2579197619CA1c.*26C>A (n.*26C>A)
c.561C>A
 gnomAD v4
8g.85328535A>GCA2687785993CA1c.*25T>C (n.*25T>C)
c.560T>C
 gnomAD v4
8g.85328536A=CA1799276184CA1c.*24T= (n.*24T=)
c.559T=
8g.85328536A>GCA1799276185CA1c.*24T>C (n.*24T>C)
c.559T>C
 dbSNP gnomAD v4
8g.85328537G>ACA2687785994CA1c.*23C>T (n.*23C>T)
c.558C>T
 gnomAD v4
8g.85328537G>TCA2687785995CA1c.*23C>A (n.*23C>A)
c.558C>A
 gnomAD v4
8g.85328538G>TCA2687785996CA1c.*22C>A (n.*22C>A)
c.557C>A
 gnomAD v4
8g.85328539A>CCA2687785997CA1c.*21T>G (n.*21T>G)
c.556T>G
 gnomAD v4
8g.85328540C>TCA2687785998CA1c.*20G>A (n.*20G>A)
c.555G>A
 gnomAD v4
8g.85328542A=CA1799276186CA1c.*18T= (n.*18T=)
c.553T=
8g.85328542A>CCA180229325CA1c.*18T>G (n.*18T>G)
c.553T>G
 dbSNP gnomAD v4
8g.85328542A>GCA582888976CA1c.*18T>C (n.*18T>C)
c.553T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.85328542A>TCA2687785999CA1c.*18T>A (n.*18T>A)
c.553T>A
 gnomAD v4
8g.85328543G>TCA2687786000CA1c.*17C>A (n.*17C>A)
c.552C>A
 gnomAD v4
8g.85328544T>CCA2687786001CA1c.*16A>G (n.*16A>G)
c.551A>G
 gnomAD v4
8g.85328545T>CCA2687786003CA1c.*15A>G (n.*15A>G)
c.550A>G
 gnomAD v4
8g.85328549_85328551delCA2687786002CA1c.*13_*15del (n.*13_*15del)
c.548_550del
 gnomAD v4
8g.85328546T>GCA582888977CA1c.*14A>C (n.*14A>C)
c.549A>C
 dbSNP gnomAD v2 gnomAD v4
8g.85328546T=CA1799276187CA1c.*14A= (n.*14A=)
c.549A=
8g.85328547C>ACA582888978CA1c.*13G>T (n.*13G>T)
c.548G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.85328547C=CA1799276188CA1c.*13G= (n.*13G=)
c.548G=
8g.85328547C>TCA2687786004CA1c.*13G>A (n.*13G>A)
c.548G>A
 gnomAD v4
8g.85328548T>CCA1799276190CA1c.*12A>G (n.*12A>G)
c.547A>G
 dbSNP gnomAD v4
8g.85328548T=CA1799276189CA1c.*12A= (n.*12A=)
c.547A=
8g.85328549T>CCA2687786005CA1c.*11A>G (n.*11A>G)
c.546A>G
 gnomAD v4
8g.85328551T>ACA2687786006CA1c.*9A>T (n.*9A>T)
c.544A>T
 gnomAD v4
8g.85328551T>CCA4795837CA1c.*9A>G (n.*9A>G)
c.544A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.85328551T=CA1799276191CA1c.*9A= (n.*9A=)
c.544A=
8g.85328552C>TCA2687786007CA1c.*8G>A (n.*8G>A)
c.543G>A
 gnomAD v4
8g.85328553A>GCA2687786008CA1c.*7T>C (n.*7T>C)
c.542T>C
 gnomAD v4
8g.85328554G>CCA1799276193CA1c.*6C>G (n.*6C>G)
c.541C>G
 dbSNP
8g.85328554G=CA1799276192CA1c.*6C= (n.*6C=)
c.541C=
8g.85328554G>TCA2687786009CA1c.*6C>A (n.*6C>A)
c.541C>A
 gnomAD v4
8g.85328555A=CA1799276194CA1c.*5T= (n.*5T=)
c.540T=
8g.85328555A>TCA1116115741CA1c.*5T>A (n.*5T>A)
c.540T>A
 dbSNP gnomAD v3 gnomAD v4
8g.85328556A=CA1799276195CA1c.*4T= (n.*4T=)
c.539T=
8g.85328556A>CCA2717469576CA1c.*4T>G (n.*4T>G)
c.539T>G
 dbSNP
8g.85328556A>GCA1799276196CA1c.*4T>C (n.*4T>C)
c.539T>C
 dbSNP
8g.85328557T>CCA2687786010CA1c.*3A>G (n.*3A>G)
c.538A>G
 gnomAD v4
8g.85328558C>TCA2687786011CA1c.*2G>A (n.*2G>A)
c.537G>A
 gnomAD v4
8g.85328559A=CA1799276198CA1c.*1T= (n.*1T=)
c.536T=
8g.85328559A>GCA180229331CA1c.*1T>C (n.*1T>C)
c.536T>C
 dbSNP gnomAD v3 gnomAD v4
8g.85328559_85328560delinsATCA1799276197CA1c.786_*1delinsAT (n.[c.786_*1delinsAT;Ter262=])
c.535_536delinsAT
c.384_*1delinsAT (n.[c.384_*1delinsAT;Ter128=])
c.588_*1delinsAT (n.[c.588_*1delinsAT;Ter196=])
c.447_*1delinsAT (n.[c.447_*1delinsAT;Ter149=])
8g.85328560delCA4795838CA1c.786del (p.Ter262CysextTer22)
c.535del
c.384del (p.Ter128CysextTer22)
c.588del (p.Ter196CysextTer22)
c.447del (p.Ter149CysextTer22)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.85328560T>ACA371418352CA1c.786A>T (p.Ter262Cys)
c.535A>T
c.384A>T (p.Ter128Cys)
c.588A>T (p.Ter196Cys)
c.447A>T (p.Ter149Cys)
8g.85328560T>CCA371418354CA1c.786A>G (p.Ter262Trp)
c.535A>G
c.384A>G (p.Ter128Trp)
c.588A>G (p.Ter196Trp)
c.447A>G (p.Ter149Trp)
 gnomAD v4
8g.85328560T>GCA371418355CA1c.786A>C (p.Ter262Cys)
c.535A>C
c.384A>C (p.Ter128Cys)
c.588A>C (p.Ter196Cys)
c.447A>C (p.Ter149Cys)
8g.85328561delCA371418363CA1c.785del (p.Ter262TyrextTer22)
c.534del
c.383del (p.Ter128TyrextTer22)
c.587del (p.Ter196TyrextTer22)
c.446del (p.Ter149TyrextTer22)
8g.85328561C>ACA371418358CA1c.785G>T (p.Ter262Leu)
c.534G>T
c.383G>T (p.Ter128Leu)
c.587G>T (p.Ter196Leu)
c.446G>T (p.Ter149Leu)
8g.85328561C=CA1799276199CA1c.785G= (p.Ter262=)
c.534G=
c.383G= (p.Ter128=)
c.587G= (p.Ter196=)
c.446G= (p.Ter149=)
8g.85328561C>GCA371418361CA1c.785G>C (p.Ter262Ser)
c.534G>C
c.383G>C (p.Ter128Ser)
c.587G>C (p.Ter196Ser)
c.446G>C (p.Ter149Ser)
8g.85328561C>TCA4795839CA1c.785G>A (p.Ter262=)
c.534G>A
c.383G>A (p.Ter128=)
c.587G>A (p.Ter196=)
c.446G>A (p.Ter149=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.85328562A>CCA371418365CA1c.784T>G (p.Ter262Gly)
c.533T>G
c.382T>G (p.Ter128Gly)
c.586T>G (p.Ter196Gly)
c.445T>G (p.Ter149Gly)
8g.85328562A>GCA371418368CA1c.784T>C (p.Ter262Arg)
c.533T>C
c.382T>C (p.Ter128Arg)
c.586T>C (p.Ter196Arg)
c.445T>C (p.Ter149Arg)
8g.85328562A>TCA371418366CA1c.784T>A (p.Ter262Arg)
c.533T>A
c.382T>A (p.Ter128Arg)
c.586T>A (p.Ter196Arg)
c.445T>A (p.Ter149Arg)
8g.85328565dupCA2717591652CA1c.784dup (p.Ter262LeuextTer20)
c.533dup
c.382dup (p.Ter128LeuextTer20)
c.586dup (p.Ter196LeuextTer20)
c.445dup (p.Ter149LeuextTer20)
 dbSNP
8g.85328563A=CA1799276200CA1c.783T= (p.Phe261=)
c.532T=
c.381T= (p.Phe127=)
c.585T= (p.Phe195=)
c.444T= (p.Phe148=)
8g.85328563A>CCA371418369CA1c.783T>G (p.Phe261Leu)
c.532T>G
c.381T>G (p.Phe127Leu)
c.585T>G (p.Phe195Leu)
c.444T>G (p.Phe148Leu)
8g.85328563A>GCA4795840CA1c.783T>C (p.Phe261=)
c.532T>C
c.381T>C (p.Phe127=)
c.585T>C (p.Phe195=)
c.444T>C (p.Phe148=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.85328563A>TCA371418371CA1c.783T>A (p.Phe261Leu)
c.532T>A
c.381T>A (p.Phe127Leu)
c.585T>A (p.Phe195Leu)
c.444T>A (p.Phe148Leu)
8g.85328564A>CCA371418373CA1c.782T>G (p.Phe261Cys)
c.531T>G
c.380T>G (p.Phe127Cys)
c.584T>G (p.Phe195Cys)
c.443T>G (p.Phe148Cys)
8g.85328564A>GCA371418375CA1c.782T>C (p.Phe261Ser)
c.531T>C
c.380T>C (p.Phe127Ser)
c.584T>C (p.Phe195Ser)
c.443T>C (p.Phe148Ser)
 gnomAD v4
8g.85328564A>TCA371418377CA1c.782T>A (p.Phe261Tyr)
c.531T>A
c.380T>A (p.Phe127Tyr)
c.584T>A (p.Phe195Tyr)
c.443T>A (p.Phe148Tyr)
8g.85328565A>CCA371418380CA1c.781T>G (p.Phe261Val)
c.530T>G
c.379T>G (p.Phe127Val)
c.583T>G
c.583T>G (p.Phe195Val)
c.442T>G (p.Phe148Val)
8g.85328565A>GCA371418383CA1c.781T>C (p.Phe261Leu)
c.530T>C
c.379T>C (p.Phe127Leu)
c.583T>C
c.583T>C (p.Phe195Leu)
c.442T>C (p.Phe148Leu)
8g.85328565A>TCA371418385CA1c.781T>A (p.Phe261Ile)
c.530T>A
c.379T>A (p.Phe127Ile)
c.583T>A
c.583T>A (p.Phe195Ile)
c.442T>A (p.Phe148Ile)
8g.85328565_85328566insATCCA2530693514CA1c.780_781insGAT (p.Ser260_Phe261insAsp)
c.529_530insGAT
c.378_379insGAT (p.Ser126_Phe127insAsp)
c.582_583insGAT (p.Ser194_X195insAsp)
c.582_583insGAT (p.Ser194_Phe195insAsp)
c.441_442insGAT (p.Ser147_Phe148insAsp)
8g.85328566T>ACA461785500CA1c.780A>T (p.Ser260=)
c.529A>T
c.378A>T (p.Ser126=)
c.582A>T (p.Ser194=)
c.441A>T (p.Ser147=)
8g.85328566T>CCA461785504CA1c.780A>G (p.Ser260=)
c.529A>G
c.378A>G (p.Ser126=)
c.582A>G (p.Ser194=)
c.441A>G (p.Ser147=)
 dbSNP gnomAD v3 gnomAD v4
8g.85328566T>GCA461785503CA1c.780A>C (p.Ser260=)
c.529A>C
c.378A>C (p.Ser126=)
c.582A>C (p.Ser194=)
c.441A>C (p.Ser147=)
8g.85328566T=CA1799276201CA1c.780A= (p.Ser260=)
c.529A=
c.378A= (p.Ser126=)
c.582A= (p.Ser194=)
c.441A= (p.Ser147=)
8g.85328567G>ACA371418390CA1c.779C>T (p.Ser260Leu)
c.528C>T
c.377C>T (p.Ser126Leu)
c.581C>T (p.Ser194Leu)
c.440C>T (p.Ser147Leu)
 COSMIC
8g.85328567G>CCA371418392CA1c.779C>G (p.Ser260Ter)
c.528C>G
c.377C>G (p.Ser126Ter)
c.581C>G (p.Ser194Ter)
c.440C>G (p.Ser147Ter)
8g.85328567G>TCA371418394CA1c.779C>A (p.Ser260Ter)
c.528C>A
c.377C>A (p.Ser126Ter)
c.581C>A (p.Ser194Ter)
c.440C>A (p.Ser147Ter)
 gnomAD v4
8g.85328568A>CCA371418405CA1c.778T>G (p.Ser260Ala)
c.527T>G
c.376T>G (p.Ser126Ala)
c.580T>G (p.Ser194Ala)
c.439T>G (p.Ser147Ala)
8g.85328568A>GCA371418401CA1c.778T>C (p.Ser260Pro)
c.527T>C
c.376T>C (p.Ser126Pro)
c.580T>C (p.Ser194Pro)
c.439T>C (p.Ser147Pro)
8g.85328568A>TCA371418403CA1c.778T>A (p.Ser260Thr)
c.527T>A
c.376T>A (p.Ser126Thr)
c.580T>A (p.Ser194Thr)
c.439T>A (p.Ser147Thr)
 gnomAD v4
8g.85328569A=CA1799276202CA1c.777T= (p.Ala259=)
c.526T=
c.375T= (p.Ala125=)
c.579T= (p.Ala193=)
c.438T= (p.Ala146=)
8g.85328569A>CCA461785513CA1c.777T>G (p.Ala259=)
c.526T>G
c.375T>G (p.Ala125=)
c.579T>G (p.Ala193=)
c.438T>G (p.Ala146=)
8g.85328569A>GCA4795841CA1c.777T>C (p.Ala259=)
c.526T>C
c.375T>C (p.Ala125=)
c.579T>C (p.Ala193=)
c.438T>C (p.Ala146=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.85328569A>TCA461785516CA1c.777T>A (p.Ala259=)
c.526T>A
c.375T>A (p.Ala125=)
c.579T>A (p.Ala193=)
c.438T>A (p.Ala146=)
 COSMIC
8g.85328570G>ACA371418407CA1c.776C>T (p.Ala259Val)
c.525C>T
c.374C>T (p.Ala125Val)
c.578C>T (p.Ala193Val)
c.437C>T (p.Ala146Val)
 gnomAD v4
8g.85328570G>CCA371418409CA1c.776C>G (p.Ala259Gly)
c.525C>G
c.374C>G (p.Ala125Gly)
c.578C>G (p.Ala193Gly)
c.437C>G (p.Ala146Gly)
 gnomAD v4
8g.85328570G>TCA371418412CA1c.776C>A (p.Ala259Asp)
c.525C>A
c.374C>A (p.Ala125Asp)
c.578C>A (p.Ala193Asp)
c.437C>A (p.Ala146Asp)
 gnomAD v4
8g.85328571C>ACA371418414CA1c.775G>T (p.Ala259Ser)
c.524G>T
c.373G>T (p.Ala125Ser)
c.577G>T (p.Ala193Ser)
c.436G>T (p.Ala146Ser)
8g.85328571C=CA1799276203CA1c.775G= (p.Ala259=)
c.524G=
c.373G= (p.Ala125=)
c.577G= (p.Ala193=)
c.436G= (p.Ala146=)
8g.85328571C>GCA4795842CA1c.775G>C (p.Ala259Pro)
c.524G>C
c.373G>C (p.Ala125Pro)
c.577G>C (p.Ala193Pro)
c.436G>C (p.Ala146Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.85328571C>TCA371418419CA1c.775G>A (p.Ala259Thr)
c.524G>A
c.373G>A (p.Ala125Thr)
c.577G>A (p.Ala193Thr)
c.436G>A (p.Ala146Thr)
8g.85328572T>ACA371418421CA1c.774A>T (p.Arg258Ser)
c.523A>T
c.372A>T (p.Arg124Ser)
c.576A>T (p.Arg192Ser)
c.435A>T (p.Arg145Ser)
8g.85328572T>CCA461785526CA1c.774A>G (p.Arg258=)
c.523A>G
c.372A>G (p.Arg124=)
c.576A>G (p.Arg192=)
c.435A>G (p.Arg145=)
8g.85328572T>GCA371418423CA1c.774A>C (p.Arg258Ser)
c.523A>C
c.372A>C (p.Arg124Ser)
c.576A>C (p.Arg192Ser)
c.435A>C (p.Arg145Ser)
8g.85328573C>ACA371418426CA1c.773G>T (p.Arg258Ile)
c.522G>T
c.371G>T (p.Arg124Ile)
c.575G>T (p.Arg192Ile)
c.434G>T (p.Arg145Ile)
 dbSNP COSMIC
8g.85328573C=CA1799276204CA1c.773G= (p.Arg258=)
c.522G=
c.371G= (p.Arg124=)
c.575G= (p.Arg192=)
c.434G= (p.Arg145=)
8g.85328573C>GCA371418428CA1c.773G>C (p.Arg258Thr)
c.522G>C
c.371G>C (p.Arg124Thr)
c.575G>C (p.Arg192Thr)
c.434G>C (p.Arg145Thr)
8g.85328573C>TCA371418430CA1c.773G>A (p.Arg258Lys)
c.522G>A
c.371G>A (p.Arg124Lys)
c.575G>A (p.Arg192Lys)
c.434G>A (p.Arg145Lys)
 dbSNP COSMIC
8g.85328574T>ACA371418433CA1c.772A>T (p.Arg258Ter)
c.521A>T
c.370A>T (p.Arg124Ter)
c.574A>T (p.Arg192Ter)
c.433A>T (p.Arg145Ter)
8g.85328574T>CCA371418435CA1c.772A>G (p.Arg258Gly)
c.521A>G
c.370A>G (p.Arg124Gly)
c.574A>G (p.Arg192Gly)
c.433A>G (p.Arg145Gly)
8g.85328574T>GCA461785540CA1c.772A>C (p.Arg258=)
c.521A>C
c.370A>C (p.Arg124=)
c.574A>C (p.Arg192=)
c.433A>C (p.Arg145=)
8g.85328575C>ACA461785542CA1c.771G>T (p.Val257=)
c.520G>T
c.369G>T (p.Val123=)
c.573G>T (p.Val191=)
c.432G>T (p.Val144=)
8g.85328575C=CA1799276205CA1c.771G= (p.Val257=)
c.520G=
c.369G= (p.Val123=)
c.573G= (p.Val191=)
c.432G= (p.Val144=)
8g.85328575C>GCA461785544CA1c.771G>C (p.Val257=)
c.520G>C
c.369G>C (p.Val123=)
c.573G>C (p.Val191=)
c.432G>C (p.Val144=)
8g.85328575C>TCA4795843CA1c.771G>A (p.Val257=)
c.520G>A
c.369G>A (p.Val123=)
c.573G>A (p.Val191=)
c.432G>A (p.Val144=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.85328576A=CA1799276206CA1c.770T= (p.Val257=)
c.519T=
c.368T= (p.Val123=)
c.572T= (p.Val191=)
c.431T= (p.Val144=)
8g.85328576A>CCA371418439CA1c.770T>G (p.Val257Gly)
c.519T>G
c.368T>G (p.Val123Gly)
c.572T>G (p.Val191Gly)
c.431T>G (p.Val144Gly)
 dbSNP gnomAD v4
8g.85328576A>GCA4795844CA1c.770T>C (p.Val257Ala)
c.519T>C
c.368T>C (p.Val123Ala)
c.572T>C (p.Val191Ala)
c.431T>C (p.Val144Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.85328576A>TCA371418441CA1c.770T>A (p.Val257Glu)
c.519T>A
c.368T>A (p.Val123Glu)
c.572T>A (p.Val191Glu)
c.431T>A (p.Val144Glu)
8g.85328577C>ACA371418444CA1c.769G>T (p.Val257Leu)
c.518G>T
c.367G>T (p.Val123Leu)
c.571G>T (p.Val191Leu)
c.430G>T (p.Val144Leu)
8g.85328577C>GCA371418449CA1c.769G>C (p.Val257Leu)
c.518G>C
c.367G>C (p.Val123Leu)
c.571G>C (p.Val191Leu)
c.430G>C (p.Val144Leu)
 COSMIC
8g.85328577C>TCA371418446CA1c.769G>A (p.Val257Met)
c.518G>A
c.367G>A (p.Val123Met)
c.571G>A (p.Val191Met)
c.430G>A (p.Val144Met)
 gnomAD v4
8g.85328578T>ACA461785558CA1c.768A>T (p.Thr256=)
c.517A>T
c.366A>T (p.Thr122=)
c.570A>T (p.Thr190=)
c.429A>T (p.Thr143=)
8g.85328578T>CCA461785560CA1c.768A>G (p.Thr256=)
c.517A>G
c.366A>G (p.Thr122=)
c.570A>G (p.Thr190=)
c.429A>G (p.Thr143=)
 dbSNP gnomAD v2 gnomAD v4
8g.85328578T>GCA461785562CA1c.768A>C (p.Thr256=)
c.517A>C
c.366A>C (p.Thr122=)
c.570A>C (p.Thr190=)
c.429A>C (p.Thr143=)
8g.85328578T=CA1799276207CA1c.768A= (p.Thr256=)
c.517A=
c.366A= (p.Thr122=)
c.570A= (p.Thr190=)
c.429A= (p.Thr143=)
8g.85328579G>ACA371418452CA1c.767C>T (p.Thr256Ile)
c.516C>T
c.365C>T (p.Thr122Ile)
c.569C>T (p.Thr190Ile)
c.428C>T (p.Thr143Ile)
8g.85328579G>CCA4795845CA1c.767C>G (p.Thr256Arg)
c.516C>G
c.365C>G (p.Thr122Arg)
c.569C>G (p.Thr190Arg)
c.428C>G (p.Thr143Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.85328579G=CA1799276208CA1c.767C= (p.Thr256=)
c.516C=
c.365C= (p.Thr122=)
c.569C= (p.Thr190=)
c.428C= (p.Thr143=)
8g.85328579G>TCA371418456CA1c.767C>A (p.Thr256Lys)
c.516C>A
c.365C>A (p.Thr122Lys)
c.569C>A (p.Thr190Lys)
c.428C>A (p.Thr143Lys)
8g.85328580T>ACA371418460CA1c.766A>T (p.Thr256Ser)
c.515A>T
c.364A>T (p.Thr122Ser)
c.568A>T (p.Thr190Ser)
c.427A>T (p.Thr143Ser)
8g.85328580T>CCA371418462CA1c.766A>G (p.Thr256Ala)
c.515A>G
c.364A>G (p.Thr122Ala)
c.568A>G (p.Thr190Ala)
c.427A>G (p.Thr143Ala)
8g.85328580T>GCA371418464CA1c.766A>C (p.Thr256Pro)
c.515A>C
c.364A>C (p.Thr122Pro)
c.568A>C (p.Thr190Pro)
c.427A>C (p.Thr143Pro)
8g.85328581T>ACA371418466CA1c.765A>T (p.Arg255Ser)
c.514A>T
c.363A>T (p.Arg121Ser)
c.567A>T (p.Arg189Ser)
c.426A>T (p.Arg142Ser)
8g.85328581T>CCA461785575CA1c.765A>G (p.Arg255=)
c.514A>G
c.363A>G (p.Arg121=)
c.567A>G (p.Arg189=)
c.426A>G (p.Arg142=)
8g.85328581T>GCA371418468CA1c.765A>C (p.Arg255Ser)
c.514A>C
c.363A>C (p.Arg121Ser)
c.567A>C (p.Arg189Ser)
c.426A>C (p.Arg142Ser)
8g.85328582C>ACA371418471CA1c.764G>T (p.Arg255Ile)
c.513G>T
c.362G>T (p.Arg121Ile)
c.566G>T (p.Arg189Ile)
c.425G>T (p.Arg142Ile)
8g.85328582C>GCA371418474CA1c.764G>C (p.Arg255Thr)
c.513G>C
c.362G>C (p.Arg121Thr)
c.566G>C (p.Arg189Thr)
c.425G>C (p.Arg142Thr)
8g.85328582C>TCA371418476CA1c.764G>A (p.Arg255Lys)
c.513G>A
c.362G>A (p.Arg121Lys)
c.566G>A (p.Arg189Lys)
c.425G>A (p.Arg142Lys)
 gnomAD v4
8g.85328583T>ACA371418480CA1c.763A>T (p.Arg255Ter)
c.512A>T
c.361A>T (p.Arg121Ter)
c.565A>T (p.Arg189Ter)
c.424A>T (p.Arg142Ter)
8g.85328583T>CCA371418479CA1c.763A>G (p.Arg255Gly)
c.512A>G
c.361A>G (p.Arg121Gly)
c.565A>G (p.Arg189Gly)
c.424A>G (p.Arg142Gly)
8g.85328583T>GCA461785585CA1c.763A>C (p.Arg255=)
c.512A>C
c.361A>C (p.Arg121=)
c.565A>C (p.Arg189=)
c.424A>C (p.Arg142=)
8g.85328584G>ACA461785589CA1c.762C>T (p.Gly254=)
c.511C>T
c.360C>T (p.Gly120=)
c.564C>T (p.Gly188=)
c.423C>T (p.Gly141=)
 gnomAD v4
8g.85328584G>CCA461785593CA1c.762C>G (p.Gly254=)
c.511C>G
c.360C>G (p.Gly120=)
c.564C>G (p.Gly188=)
c.423C>G (p.Gly141=)
8g.85328584G=CA1799276209CA1c.762C= (p.Gly254=)
c.511C=
c.360C= (p.Gly120=)
c.564C= (p.Gly188=)
c.423C= (p.Gly141=)
8g.85328584G>TCA461785590CA1c.762C>A (p.Gly254=)
c.511C>A
c.360C>A (p.Gly120=)
c.564C>A (p.Gly188=)
c.423C>A (p.Gly141=)
 dbSNP gnomAD v4
8g.85328585C>ACA371418481CA1c.761G>T (p.Gly254Val)
c.510G>T
c.359G>T (p.Gly120Val)
c.563G>T (p.Gly188Val)
c.422G>T (p.Gly141Val)
8g.85328585C=CA1799276210CA1c.761G= (p.Gly254=)
c.510G=
c.359G= (p.Gly120=)
c.563G= (p.Gly188=)
c.422G= (p.Gly141=)
8g.85328585C>GCA371418483CA1c.761G>C (p.Gly254Ala)
c.510G>C
c.359G>C (p.Gly120Ala)
c.563G>C (p.Gly188Ala)
c.422G>C (p.Gly141Ala)
8g.85328585C>TCA4795846CA1c.761G>A (p.Gly254Asp)
c.510G>A
c.359G>A (p.Gly120Asp)
c.563G>A (p.Gly188Asp)
c.422G>A (p.Gly141Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.85328586C>ACA371418485CA1c.760G>T (p.Gly254Cys)
c.509G>T
c.358G>T (p.Gly120Cys)
c.562G>T (p.Gly188Cys)
c.421G>T (p.Gly141Cys)
 gnomAD v4
8g.85328586C=CA1799276211CA1c.760G= (p.Gly254=)
c.509G=
c.358G= (p.Gly120=)
c.562G= (p.Gly188=)
c.421G= (p.Gly141=)
8g.85328586C>GCA127302CA1c.760G>C (p.Gly254Arg)
c.509G>C
c.358G>C (p.Gly120Arg)
c.562G>C (p.Gly188Arg)
c.421G>C (p.Gly141Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.85328586C>TCA371418487CA1c.760G>A (p.Gly254Ser)
c.509G>A
c.358G>A (p.Gly120Ser)
c.562G>A (p.Gly188Ser)
c.421G>A (p.Gly141Ser)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.85328587C>ACA371418489CA1c.759G>T (p.Lys253Asn)
c.508G>T
c.357G>T (p.Lys119Asn)
c.561G>T (p.Lys187Asn)
c.420G>T (p.Lys140Asn)
8g.85328587C>GCA371418492CA1c.759G>C (p.Lys253Asn)
c.508G>C
c.357G>C (p.Lys119Asn)
c.561G>C (p.Lys187Asn)
c.420G>C (p.Lys140Asn)
8g.85328587C>TCA461785606CA1c.759G>A (p.Lys253=)
c.508G>A
c.357G>A (p.Lys119=)
c.561G>A (p.Lys187=)
c.420G>A (p.Lys140=)
8g.85328588T>ACA371418496CA1c.758A>T (p.Lys253Met)
c.507A>T
c.356A>T (p.Lys119Met)
c.560A>T (p.Lys187Met)
c.419A>T (p.Lys140Met)
8g.85328588T>CCA371418498CA1c.758A>G (p.Lys253Arg)
c.507A>G
c.356A>G (p.Lys119Arg)
c.560A>G (p.Lys187Arg)
c.419A>G (p.Lys140Arg)
8g.85328588T>GCA371418500CA1c.758A>C (p.Lys253Thr)
c.507A>C
c.356A>C (p.Lys119Thr)
c.560A>C (p.Lys187Thr)
c.419A>C (p.Lys140Thr)
8g.85328589T>ACA371418507CA1c.757A>T (p.Lys253Ter)
c.506A>T
c.355A>T (p.Lys119Ter)
c.559A>T (p.Lys187Ter)
c.418A>T (p.Lys140Ter)
8g.85328589T>CCA371418505CA1c.757A>G (p.Lys253Glu)
c.506A>G
c.355A>G (p.Lys119Glu)
c.559A>G (p.Lys187Glu)
c.418A>G (p.Lys140Glu)
8g.85328589T>GCA371418503CA1c.757A>C (p.Lys253Gln)
c.506A>C
c.355A>C (p.Lys119Gln)
c.559A>C (p.Lys187Gln)
c.418A>C (p.Lys140Gln)
8g.85328590C>ACA461785620CA1c.756G>T (p.Leu252=)
c.505G>T
c.354G>T (p.Leu118=)
c.558G>T (p.Leu186=)
c.417G>T (p.Leu139=)
8g.85328590C=CA1799276212CA1c.756G= (p.Leu252=)
c.505G=
c.354G= (p.Leu118=)
c.558G= (p.Leu186=)
c.417G= (p.Leu139=)
8g.85328590C>GCA4795847CA1c.756G>C (p.Leu252=)
c.505G>C
c.354G>C (p.Leu118=)
c.558G>C (p.Leu186=)
c.417G>C (p.Leu139=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.85328590C>TCA461785623CA1c.756G>A (p.Leu252=)
c.505G>A
c.354G>A (p.Leu118=)
c.558G>A (p.Leu186=)
c.417G>A (p.Leu139=)
8g.85328591A>CCA371418512CA1c.755T>G (p.Leu252Arg)
c.504T>G
c.353T>G (p.Leu118Arg)
c.557T>G (p.Leu186Arg)
c.416T>G (p.Leu139Arg)
8g.85328591A>GCA371418514CA1c.755T>C (p.Leu252Pro)
c.504T>C
c.353T>C (p.Leu118Pro)
c.557T>C (p.Leu186Pro)
c.416T>C (p.Leu139Pro)
8g.85328591A>TCA371418517CA1c.755T>A (p.Leu252Gln)
c.504T>A
c.353T>A (p.Leu118Gln)
c.557T>A (p.Leu186Gln)
c.416T>A (p.Leu139Gln)
8g.85328592G>ACA461785632CA1c.754C>T (p.Leu252=)
c.503C>T
c.352C>T (p.Leu118=)
c.556C>T (p.Leu186=)
c.415C>T (p.Leu139=)
8g.85328592G>CCA371418520CA1c.754C>G (p.Leu252Val)
c.503C>G
c.352C>G (p.Leu118Val)
c.556C>G (p.Leu186Val)
c.415C>G (p.Leu139Val)
8g.85328592G>TCA371418522CA1c.754C>A (p.Leu252Met)
c.503C>A
c.352C>A (p.Leu118Met)
c.556C>A (p.Leu186Met)
c.415C>A (p.Leu139Met)
8g.85328593A>CCA461785636CA1c.753T>G (p.Pro251=)
c.502T>G
c.351T>G (p.Pro117=)
c.555T>G (p.Pro185=)
c.414T>G (p.Pro138=)
8g.85328593A>GCA461785637CA1c.753T>C (p.Pro251=)
c.502T>C
c.351T>C (p.Pro117=)
c.555T>C (p.Pro185=)
c.414T>C (p.Pro138=)
8g.85328593A>TCA461785639CA1c.753T>A (p.Pro251=)
c.502T>A
c.351T>A (p.Pro117=)
c.555T>A (p.Pro185=)
c.414T>A (p.Pro138=)
8g.85328594G>ACA371418525CA1c.752C>T (p.Pro251Leu)
c.413C>T
c.501C>T
c.350C>T (p.Pro117Leu)
c.554C>T (p.Pro185Leu)
c.413C>T (p.Pro138Leu)
8g.85328594G>CCA371418526CA1c.752C>G (p.Pro251Arg)
c.413C>G
c.501C>G
c.350C>G (p.Pro117Arg)
c.554C>G (p.Pro185Arg)
c.413C>G (p.Pro138Arg)
8g.85328594G>TCA371418528CA1c.752C>A (p.Pro251His)
c.413C>A
c.501C>A
c.350C>A (p.Pro117His)
c.554C>A (p.Pro185His)
c.413C>A (p.Pro138His)
 gnomAD v4
8g.85328595G>ACA371418531CA1c.751C>T (p.Pro251Ser)
c.412C>T
c.500C>T
c.349C>T (p.Pro117Ser)
c.553C>T (p.Pro185Ser)
c.412C>T (p.Pro138Ser)
 dbSNP
8g.85328595G>CCA371418533CA1c.751C>G (p.Pro251Ala)
c.412C>G
c.500C>G
c.349C>G (p.Pro117Ala)
c.553C>G (p.Pro185Ala)
c.412C>G (p.Pro138Ala)
8g.85328595G=CA1799276213CA1c.751C= (p.Pro251=)
c.412C=
c.500C=
c.349C= (p.Pro117=)
c.553C= (p.Pro185=)
c.412C= (p.Pro138=)
8g.85328595G>TCA371418536CA1c.751C>A (p.Pro251Thr)
c.412C>A
c.500C>A
c.349C>A (p.Pro117Thr)
c.553C>A (p.Pro185Thr)
c.412C>A (p.Pro138Thr)
8g.85328596T>ACA371418542CA1c.750A>T (p.Gln250His)
c.411A>T (p.Gln137His)
c.499A>T
c.348A>T (p.Gln116His)
c.552A>T (p.Gln184His)
8g.85328596T>CCA4795848CA1c.750A>G (p.Gln250=)
c.411A>G (p.Gln137=)
c.499A>G
c.348A>G (p.Gln116=)
c.552A>G (p.Gln184=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.85328596T>GCA4795849CA1c.750A>C (p.Gln250His)
c.411A>C (p.Gln137His)
c.499A>C
c.348A>C (p.Gln116His)
c.552A>C (p.Gln184His)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.85328596T=CA1799276214CA1c.750A= (p.Gln250=)
c.411A= (p.Gln137=)
c.499A=
c.348A= (p.Gln116=)
c.552A= (p.Gln184=)
8g.85328597T>ACA371418545CA1c.749A>T (p.Gln250Leu)
c.410A>T (p.Gln137Leu)
c.498A>T
c.347A>T (p.Gln116Leu)
c.551A>T (p.Gln184Leu)
8g.85328597T>CCA371418547CA1c.749A>G (p.Gln250Arg)
c.410A>G (p.Gln137Arg)
c.498A>G
c.347A>G (p.Gln116Arg)
c.551A>G (p.Gln184Arg)
8g.85328597T>GCA371418550CA1c.749A>C (p.Gln250Pro)
c.410A>C (p.Gln137Pro)
c.498A>C
c.347A>C (p.Gln116Pro)
c.551A>C (p.Gln184Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.85328597T=CA1799276215CA1c.749A= (p.Gln250=)
c.410A= (p.Gln137=)
c.498A=
c.347A= (p.Gln116=)
c.551A= (p.Gln184=)
8g.85328598G>ACA4795850CA1c.748C>T (p.Gln250Ter)
c.409C>T (p.Gln137Ter)
c.497C>T
c.346C>T (p.Gln116Ter)
c.550C>T (p.Gln184Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.85328598G>CCA371418554CA1c.748C>G (p.Gln250Glu)
c.409C>G (p.Gln137Glu)
c.497C>G
c.346C>G (p.Gln116Glu)
c.550C>G (p.Gln184Glu)
8g.85328598G=CA1799276216CA1c.748C= (p.Gln250=)
c.409C= (p.Gln137=)
c.497C=
c.346C= (p.Gln116=)
c.550C= (p.Gln184=)
8g.85328598G>TCA371418556CA1c.748C>A (p.Gln250Lys)
c.409C>A (p.Gln137Lys)
c.497C>A
c.346C>A (p.Gln116Lys)
c.550C>A (p.Gln184Lys)
8g.85328599G>ACA180229403CA1c.747C>T (p.Thr249=)
c.408C>T (p.Thr136=)
c.496C>T
c.345C>T (p.Thr115=)
c.549C>T (p.Thr183=)
 dbSNP gnomAD v2 gnomAD v4
8g.85328599G>CCA461785662CA1c.747C>G (p.Thr249=)
c.408C>G (p.Thr136=)
c.496C>G
c.345C>G (p.Thr115=)
c.549C>G (p.Thr183=)
8g.85328599G=CA1799276217CA1c.747C= (p.Thr249=)
c.408C= (p.Thr136=)
c.496C=
c.345C= (p.Thr115=)
c.549C= (p.Thr183=)
8g.85328599G>TCA461785663CA1c.747C>A (p.Thr249=)
c.408C>A (p.Thr136=)
c.496C>A
c.345C>A (p.Thr115=)
c.549C>A (p.Thr183=)
 COSMIC
8g.85328600G>ACA371418559CA1c.746C>T (p.Thr249Ile)
c.407C>T (p.Thr136Ile)
c.495C>T
c.344C>T (p.Thr115Ile)
c.548C>T (p.Thr183Ile)
 gnomAD v4
8g.85328600G>CCA371418561CA1c.746C>G (p.Thr249Ser)
c.407C>G (p.Thr136Ser)
c.495C>G
c.344C>G (p.Thr115Ser)
c.548C>G (p.Thr183Ser)
8g.85328600G>TCA371418563CA1c.746C>A (p.Thr249Asn)
c.407C>A (p.Thr136Asn)
c.495C>A
c.344C>A (p.Thr115Asn)
c.548C>A (p.Thr183Asn)
 COSMIC
8g.85328601T>ACA371418566CA1c.745A>T (p.Thr249Ser)
c.406A>T (p.Thr136Ser)
c.494A>T
c.343A>T (p.Thr115Ser)
c.547A>T (p.Thr183Ser)
8g.85328601T>CCA4795851CA1c.745A>G (p.Thr249Ala)
c.406A>G (p.Thr136Ala)
c.494A>G
c.343A>G (p.Thr115Ala)
c.547A>G (p.Thr183Ala)
 dbSNP ExAC gnomAD v4
8g.85328601T>GCA371418570CA1c.745A>C (p.Thr249Pro)
c.406A>C (p.Thr136Pro)
c.494A>C
c.343A>C (p.Thr115Pro)
c.547A>C (p.Thr183Pro)
 dbSNP gnomAD v3 gnomAD v4
8g.85328601T=CA1799276218CA1c.745A= (p.Thr249=)
c.406A= (p.Thr136=)
c.494A=
c.343A= (p.Thr115=)
c.547A= (p.Thr183=)
8g.85328602T>ACA461785675CA1c.744A>T (p.Pro248=)
c.405A>T (p.Pro135=)
c.493A>T
c.342A>T (p.Pro114=)
c.546A>T (p.Pro182=)
8g.85328602T>CCA461785677CA1c.744A>G (p.Pro248=)
c.405A>G (p.Pro135=)
c.493A>G
c.342A>G (p.Pro114=)
c.546A>G (p.Pro182=)
 dbSNP gnomAD v2 gnomAD v4
8g.85328602T>GCA461785680CA1c.744A>C (p.Pro248=)
c.405A>C (p.Pro135=)
c.493A>C
c.342A>C (p.Pro114=)
c.546A>C (p.Pro182=)
8g.85328602T=CA1799276219CA1c.744A= (p.Pro248=)
c.405A= (p.Pro135=)
c.493A=
c.342A= (p.Pro114=)
c.546A= (p.Pro182=)
8g.85328603G>ACA371418575CA1c.743C>T (p.Pro248Leu)
c.404C>T (p.Pro135Leu)
c.492C>T
c.341C>T (p.Pro114Leu)
c.545C>T (p.Pro182Leu)
8g.85328603G>CCA371418577CA1c.743C>G (p.Pro248Arg)
c.404C>G (p.Pro135Arg)
c.492C>G
c.341C>G (p.Pro114Arg)
c.545C>G (p.Pro182Arg)
8g.85328603G=CA1799276220CA1c.743C= (p.Pro248=)
c.404C= (p.Pro135=)
c.492C=
c.341C= (p.Pro114=)
c.545C= (p.Pro182=)
8g.85328603G>TCA4795852CA1c.743C>A (p.Pro248Gln)
c.404C>A (p.Pro135Gln)
c.492C>A
c.341C>A (p.Pro114Gln)
c.545C>A (p.Pro182Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.85328604G>ACA371418586CA1c.742C>T (p.Pro248Ser)
c.403C>T (p.Pro135Ser)
c.491C>T
c.340C>T (p.Pro114Ser)
c.544C>T (p.Pro182Ser)
 gnomAD v4
8g.85328604G>CCA371418581CA1c.742C>G (p.Pro248Ala)
c.403C>G (p.Pro135Ala)
c.491C>G
c.340C>G (p.Pro114Ala)
c.544C>G (p.Pro182Ala)
8g.85328604G>TCA371418583CA1c.742C>A (p.Pro248Thr)
c.403C>A (p.Pro135Thr)
c.491C>A
c.340C>A (p.Pro114Thr)
c.544C>A (p.Pro182Thr)
8g.85328605G>ACA461785691CA1c.741C>T (p.Arg247=)
c.402C>T (p.Arg134=)
c.490C>T
c.339C>T (p.Arg113=)
c.543C>T (p.Arg181=)
 gnomAD v4
8g.85328605G>CCA461785693CA1c.741C>G (p.Arg247=)
c.402C>G (p.Arg134=)
c.490C>G
c.339C>G (p.Arg113=)
c.543C>G (p.Arg181=)
8g.85328605G>TCA461785695CA1c.741C>A (p.Arg247=)
c.402C>A (p.Arg134=)
c.490C>A
c.339C>A (p.Arg113=)
c.543C>A (p.Arg181=)
 gnomAD v4
8g.85328606C>ACA371418588CA1c.740G>T (p.Arg247Leu)
c.401G>T (p.Arg134Leu)
c.489G>T
c.338G>T (p.Arg113Leu)
c.542G>T (p.Arg181Leu)
8g.85328606C=CA1799276221CA1c.740G= (p.Arg247=)
c.401G= (p.Arg134=)
c.489G=
c.338G= (p.Arg113=)
c.542G= (p.Arg181=)
8g.85328606C>GCA371418590CA1c.740G>C (p.Arg247Pro)
c.401G>C (p.Arg134Pro)
c.489G>C
c.338G>C (p.Arg113Pro)
c.542G>C (p.Arg181Pro)
8g.85328606C>TCA127304CA1c.740G>A (p.Arg247His)
c.401G>A (p.Arg134His)
c.489G>A
c.338G>A (p.Arg113His)
c.542G>A (p.Arg181His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched