Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.43065430_43065849dupCA891843625CBSc.452-153_624dup
n.763-153_935dup
c.503-153_675dup
c.137-153_309dup
n.823-153_995dup
n.602-153_774dup
 ClinVar dbSNP
21g.43065567C>ACA749580013CBSc.532-46G>T (n.532-46G>T)
n.843-46G>T
c.583-46G>T (n.583-46G>T)
c.217-46G>T (n.217-46G>T)
n.903-46G>T
n.682-46G>T
 dbSNP gnomAD v4
21g.43065567C=CA2391103821CBSc.532-46G= (n.532-46G=)
n.843-46G=
c.583-46G= (n.583-46G=)
c.217-46G= (n.217-46G=)
n.903-46G=
n.682-46G=
21g.43065567C>TCA1022628317CBSc.532-46G>A (n.532-46G>A)
n.843-46G>A
c.583-46G>A (n.583-46G>A)
c.217-46G>A (n.217-46G>A)
n.903-46G>A
n.682-46G>A
 dbSNP gnomAD v3 gnomAD v4
21g.43065568A=CA2391103822CBSc.532-47T= (n.532-47T=)
n.843-47T=
c.583-47T= (n.583-47T=)
c.217-47T= (n.217-47T=)
n.903-47T=
n.682-47T=
21g.43065568A>CCA657667252CBSc.532-47T>G (n.532-47T>G)
n.843-47T>G
c.583-47T>G (n.583-47T>G)
c.217-47T>G (n.217-47T>G)
n.903-47T>G
n.682-47T>G
 COSMIC
21g.43065568A>TCA321096430CBSc.532-47T>A (n.532-47T>A)
n.843-47T>A
c.583-47T>A (n.583-47T>A)
c.217-47T>A (n.217-47T>A)
n.903-47T>A
n.682-47T>A
 dbSNP gnomAD v3 gnomAD v4
21g.43065570C>TCA2818000968CBSc.531+46G>A (n.531+46G>A)
n.842+46G>A
c.582+46G>A (n.582+46G>A)
c.216+46G>A (n.216+46G>A)
n.902+46G>A
n.681+46G>A
21g.43065574A=CA2391103823CBSc.531+42T= (n.531+42T=)
n.842+42T=
c.582+42T= (n.582+42T=)
c.216+42T= (n.216+42T=)
n.902+42T=
n.681+42T=
21g.43065574A>CCA2654728352CBSc.531+42T>G (n.531+42T>G)
n.842+42T>G
c.582+42T>G (n.582+42T>G)
c.216+42T>G (n.216+42T>G)
n.902+42T>G
n.681+42T>G
 gnomAD v4
21g.43065574A>GCA321096432CBSc.531+42T>C (n.531+42T>C)
n.842+42T>C
c.582+42T>C (n.582+42T>C)
c.216+42T>C (n.216+42T>C)
n.902+42T>C
n.681+42T>C
 dbSNP
21g.43065575T>ACA749580016CBSc.531+41A>T (n.531+41A>T)
n.842+41A>T
c.582+41A>T (n.582+41A>T)
c.216+41A>T (n.216+41A>T)
n.902+41A>T
n.681+41A>T
 dbSNP
21g.43065575T=CA2391103824CBSc.531+41A= (n.531+41A=)
n.842+41A=
c.582+41A= (n.582+41A=)
c.216+41A= (n.216+41A=)
n.902+41A=
n.681+41A=
21g.43065577C>ACA749580017CBSc.531+39G>T (n.531+39G>T)
n.842+39G>T
c.582+39G>T (n.582+39G>T)
c.216+39G>T (n.216+39G>T)
n.902+39G>T
n.681+39G>T
 dbSNP
21g.43065577C=CA2391103825CBSc.531+39G= (n.531+39G=)
n.842+39G=
c.582+39G= (n.582+39G=)
c.216+39G= (n.216+39G=)
n.902+39G=
n.681+39G=
21g.43065577C>GCA2737570642CBSc.531+39G>C (n.531+39G>C)
n.842+39G>C
c.582+39G>C (n.582+39G>C)
c.216+39G>C (n.216+39G>C)
n.902+39G>C
n.681+39G>C
 dbSNP
21g.43065579C=CA2391103826CBSc.531+37G= (n.531+37G=)
n.842+37G=
c.582+37G= (n.582+37G=)
c.216+37G= (n.216+37G=)
n.902+37G=
n.681+37G=
21g.43065579C>TCA749580018CBSc.531+37G>A (n.531+37G>A)
n.842+37G>A
c.582+37G>A (n.582+37G>A)
c.216+37G>A (n.216+37G>A)
n.902+37G>A
n.681+37G>A
 dbSNP
21g.43065581G>ACA749580019CBSc.531+35C>T (n.531+35C>T)
n.842+35C>T
c.582+35C>T (n.582+35C>T)
c.216+35C>T (n.216+35C>T)
n.902+35C>T
n.681+35C>T
 dbSNP
21g.43065581G=CA2391103827CBSc.531+35C= (n.531+35C=)
n.842+35C=
c.582+35C= (n.582+35C=)
c.216+35C= (n.216+35C=)
n.902+35C=
n.681+35C=
21g.43065582C>ACA321096434CBSc.531+34G>T (n.531+34G>T)
n.842+34G>T
c.582+34G>T (n.582+34G>T)
c.216+34G>T (n.216+34G>T)
n.902+34G>T
n.681+34G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43065582C=CA2391103828CBSc.531+34G= (n.531+34G=)
n.842+34G=
c.582+34G= (n.582+34G=)
c.216+34G= (n.216+34G=)
n.902+34G=
n.681+34G=
21g.43065584C=CA2391103829CBSc.531+32G= (n.531+32G=)
n.842+32G=
c.582+32G= (n.582+32G=)
c.216+32G= (n.216+32G=)
n.902+32G=
n.681+32G=
21g.43065584C>GCA749580020CBSc.531+32G>C (n.531+32G>C)
n.842+32G>C
c.582+32G>C (n.582+32G>C)
c.216+32G>C (n.216+32G>C)
n.902+32G>C
n.681+32G>C
 dbSNP
21g.43065585T>GCA2818000972CBSc.531+31A>C (n.531+31A>C)
n.842+31A>C
c.582+31A>C (n.582+31A>C)
c.216+31A>C (n.216+31A>C)
n.902+31A>C
n.681+31A>C
21g.43065586A>CCA2654728353CBSc.531+30T>G (n.531+30T>G)
n.842+30T>G
c.582+30T>G (n.582+30T>G)
c.216+30T>G (n.216+30T>G)
n.902+30T>G
n.681+30T>G
 gnomAD v4
21g.43065586A>GCA2737801697CBSc.531+30T>C (n.531+30T>C)
n.842+30T>C
c.582+30T>C (n.582+30T>C)
c.216+30T>C (n.216+30T>C)
n.902+30T>C
n.681+30T>C
 dbSNP
21g.43065587T>ACA749580021CBSc.531+29A>T (n.531+29A>T)
n.842+29A>T
c.582+29A>T (n.582+29A>T)
c.216+29A>T (n.216+29A>T)
n.902+29A>T
n.681+29A>T
 dbSNP
21g.43065587T>CCA749580022CBSc.531+29A>G (n.531+29A>G)
n.842+29A>G
c.582+29A>G (n.582+29A>G)
c.216+29A>G (n.216+29A>G)
n.902+29A>G
n.681+29A>G
 dbSNP gnomAD v4
21g.43065587T=CA2391103830CBSc.531+29A= (n.531+29A=)
n.842+29A=
c.582+29A= (n.582+29A=)
c.216+29A= (n.216+29A=)
n.902+29A=
n.681+29A=
21g.43065588G>ACA657667281CBSc.531+28C>T (n.531+28C>T)
n.842+28C>T
c.582+28C>T (n.582+28C>T)
c.216+28C>T (n.216+28C>T)
n.902+28C>T
n.681+28C>T
 COSMIC
21g.43065589A=CA2391103831CBSc.531+27T= (n.531+27T=)
n.842+27T=
c.582+27T= (n.582+27T=)
c.216+27T= (n.216+27T=)
n.902+27T=
n.681+27T=
21g.43065589A>CCA749580023CBSc.531+27T>G (n.531+27T>G)
n.842+27T>G
c.582+27T>G (n.582+27T>G)
c.216+27T>G (n.216+27T>G)
n.902+27T>G
n.681+27T>G
 dbSNP gnomAD v3 gnomAD v4
21g.43065589A>TCA321096438CBSc.531+27T>A (n.531+27T>A)
n.842+27T>A
c.582+27T>A (n.582+27T>A)
c.216+27T>A (n.216+27T>A)
n.902+27T>A
n.681+27T>A
 dbSNP
21g.43065590C=CA2391103832CBSc.531+26G= (n.531+26G=)
n.842+26G=
c.582+26G= (n.582+26G=)
c.216+26G= (n.216+26G=)
n.902+26G=
n.681+26G=
21g.43065590C>GCA321096450CBSc.531+26G>C (n.531+26G>C)
n.842+26G>C
c.582+26G>C (n.582+26G>C)
c.216+26G>C (n.216+26G>C)
n.902+26G>C
n.681+26G>C
 dbSNP gnomAD v4
21g.43065591C=CA2391103833CBSc.531+25G= (n.531+25G=)
n.842+25G=
c.582+25G= (n.582+25G=)
c.216+25G= (n.216+25G=)
n.902+25G=
n.681+25G=
21g.43065591C>TCA749580024CBSc.531+25G>A (n.531+25G>A)
n.842+25G>A
c.582+25G>A (n.582+25G>A)
c.216+25G>A (n.216+25G>A)
n.902+25G>A
n.681+25G>A
 dbSNP gnomAD v4
21g.43065592C=CA2391103834CBSc.531+24G= (n.531+24G=)
n.842+24G=
c.582+24G= (n.582+24G=)
c.216+24G= (n.216+24G=)
n.902+24G=
n.681+24G=
21g.43065592C>TCA749580025CBSc.531+24G>A (n.531+24G>A)
n.842+24G>A
c.582+24G>A (n.582+24G>A)
c.216+24G>A (n.216+24G>A)
n.902+24G>A
n.681+24G>A
 dbSNP
21g.43065593C=CA2391103835CBSc.531+23G= (n.531+23G=)
n.842+23G=
c.582+23G= (n.582+23G=)
c.216+23G= (n.216+23G=)
n.902+23G=
n.681+23G=
21g.43065593C>TCA321096468CBSc.531+23G>A (n.531+23G>A)
n.842+23G>A
c.582+23G>A (n.582+23G>A)
c.216+23G>A (n.216+23G>A)
n.902+23G>A
n.681+23G>A
 dbSNP gnomAD v3 gnomAD v4
21g.43065594G>ACA321096485CBSc.531+22C>T (n.531+22C>T)
n.842+22C>T
c.582+22C>T (n.582+22C>T)
c.216+22C>T (n.216+22C>T)
n.902+22C>T
n.681+22C>T
 dbSNP gnomAD v3 gnomAD v4
21g.43065594G=CA2391103836CBSc.531+22C= (n.531+22C=)
n.842+22C=
c.582+22C= (n.582+22C=)
c.216+22C= (n.216+22C=)
n.902+22C=
n.681+22C=
21g.43065595C>TCA2654728354CBSc.531+21G>A (n.531+21G>A)
n.842+21G>A
c.582+21G>A (n.582+21G>A)
c.216+21G>A (n.216+21G>A)
n.902+21G>A
n.681+21G>A
 gnomAD v4
21g.43065597C>ACA321096499CBSc.531+19G>T (n.531+19G>T)
n.842+19G>T
c.582+19G>T (n.582+19G>T)
c.216+19G>T (n.216+19G>T)
n.902+19G>T
n.681+19G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43065597C=CA2391103837CBSc.531+19G= (n.531+19G=)
n.842+19G=
c.582+19G= (n.582+19G=)
c.216+19G= (n.216+19G=)
n.902+19G=
n.681+19G=
21g.43065597C>TCA1022628331CBSc.531+19G>A (n.531+19G>A)
n.842+19G>A
c.582+19G>A (n.582+19G>A)
c.216+19G>A (n.216+19G>A)
n.902+19G>A
n.681+19G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43065598_43065599delinsCTCA2391103838CBSc.531+17_531+18delinsAG (n.531+17_531+18delinsAG)
n.842+17_842+18delinsAG
c.582+17_582+18delinsAG (n.582+17_582+18delinsAG)
c.216+17_216+18delinsAG (n.216+17_216+18delinsAG)
n.902+17_902+18delinsAG
n.681+17_681+18delinsAG
21g.43065599delCA321096511CBSc.531+17del (n.531+17del)
n.842+17del
c.582+17del (n.582+17del)
c.216+17del (n.216+17del)
n.902+17del
n.681+17del
 ClinVar dbSNP
21g.43065600G=CA2391103839CBSc.531+16C= (n.531+16C=)
n.842+16C=
c.582+16C= (n.582+16C=)
c.216+16C= (n.216+16C=)
n.902+16C=
n.681+16C=
21g.43065600G>TCA321096514CBSc.531+16C>A (n.531+16C>A)
n.842+16C>A
c.582+16C>A (n.582+16C>A)
c.216+16C>A (n.216+16C>A)
n.902+16C>A
n.681+16C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43065601G>ACA749580027CBSc.531+15C>T (n.531+15C>T)
n.842+15C>T
c.582+15C>T (n.582+15C>T)
c.216+15C>T (n.216+15C>T)
n.902+15C>T
n.681+15C>T
 ClinVar dbSNP
21g.43065601G=CA2391103840CBSc.531+15C= (n.531+15C=)
n.842+15C=
c.582+15C= (n.582+15C=)
c.216+15C= (n.216+15C=)
n.902+15C=
n.681+15C=
21g.43065601G>TCA749580028CBSc.531+15C>A (n.531+15C>A)
n.842+15C>A
c.582+15C>A (n.582+15C>A)
c.216+15C>A (n.216+15C>A)
n.902+15C>A
n.681+15C>A
 dbSNP
21g.43065602C=CA2391103841CBSc.531+14G= (n.531+14G=)
n.842+14G=
c.582+14G= (n.582+14G=)
c.216+14G= (n.216+14G=)
n.902+14G=
n.681+14G=
21g.43065602C>TCA749580029CBSc.531+14G>A (n.531+14G>A)
n.842+14G>A
c.582+14G>A (n.582+14G>A)
c.216+14G>A (n.216+14G>A)
n.902+14G>A
n.681+14G>A
 dbSNP
21g.43065604A=CA2391103842CBSc.531+12T= (n.531+12T=)
n.842+12T=
c.582+12T= (n.582+12T=)
c.216+12T= (n.216+12T=)
n.902+12T=
n.681+12T=
21g.43065604A>CCA2818000977CBSc.531+12T>G (n.531+12T>G)
n.842+12T>G
c.582+12T>G (n.582+12T>G)
c.216+12T>G (n.216+12T>G)
n.902+12T>G
n.681+12T>G
21g.43065604A>TCA321096524CBSc.531+12T>A (n.531+12T>A)
n.842+12T>A
c.582+12T>A (n.582+12T>A)
c.216+12T>A (n.216+12T>A)
n.902+12T>A
n.681+12T>A
 ClinVar dbSNP
21g.43065605C>ACA749580031CBSc.531+11G>T (n.531+11G>T)
n.842+11G>T
c.582+11G>T (n.582+11G>T)
c.216+11G>T (n.216+11G>T)
n.902+11G>T
n.681+11G>T
 dbSNP
21g.43065605C=CA2391103843CBSc.531+11G= (n.531+11G=)
n.842+11G=
c.582+11G= (n.582+11G=)
c.216+11G= (n.216+11G=)
n.902+11G=
n.681+11G=
21g.43065605C>TCA289971CBSc.531+11G>A (n.531+11G>A)
n.842+11G>A
c.582+11G>A (n.582+11G>A)
c.216+11G>A (n.216+11G>A)
n.902+11G>A
n.681+11G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43065606G>ACA321096528CBSc.531+10C>T (n.531+10C>T)
n.842+10C>T
c.582+10C>T (n.582+10C>T)
c.216+10C>T (n.216+10C>T)
n.902+10C>T
n.681+10C>T
 ClinVar dbSNP
21g.43065606G=CA2391103844CBSc.531+10C= (n.531+10C=)
n.842+10C=
c.582+10C= (n.582+10C=)
c.216+10C= (n.216+10C=)
n.902+10C=
n.681+10C=
21g.43065607C=CA2391103845CBSc.531+9G= (n.531+9G=)
n.842+9G=
c.582+9G= (n.582+9G=)
c.216+9G= (n.216+9G=)
n.902+9G=
n.681+9G=
21g.43065607C>TCA321096546CBSc.531+9G>A (n.531+9G>A)
n.842+9G>A
c.582+9G>A (n.582+9G>A)
c.216+9G>A (n.216+9G>A)
n.902+9G>A
n.681+9G>A
 dbSNP
21g.43065608C=CA2391103846CBSc.531+8G= (n.531+8G=)
n.842+8G=
c.582+8G= (n.582+8G=)
c.216+8G= (n.216+8G=)
n.902+8G=
n.681+8G=
21g.43065608C>TCA749580032CBSc.531+8G>A (n.531+8G>A)
n.842+8G>A
c.582+8G>A (n.582+8G>A)
c.216+8G>A (n.216+8G>A)
n.902+8G>A
n.681+8G>A
 ClinVar dbSNP gnomAD v4
21g.43065609C=CA2391103847CBSc.531+7G= (n.531+7G=)
n.842+7G=
c.582+7G= (n.582+7G=)
c.216+7G= (n.216+7G=)
n.902+7G=
n.681+7G=
21g.43065609C>TCA749580033CBSc.531+7G>A (n.531+7G>A)
n.842+7G>A
c.582+7G>A (n.582+7G>A)
c.216+7G>A (n.216+7G>A)
n.902+7G>A
n.681+7G>A
 dbSNP
21g.43065610A>CCA1022628338CBSc.531+6T>G (n.531+6T>G)
n.842+6T>G
c.582+6T>G (n.582+6T>G)
c.216+6T>G (n.216+6T>G)
n.902+6T>G
n.681+6T>G
 gnomAD v3 gnomAD v4
21g.43065611C=CA2391103848CBSc.531+5G= (n.531+5G=)
n.842+5G=
c.582+5G= (n.582+5G=)
c.216+5G= (n.216+5G=)
n.902+5G=
n.681+5G=
21g.43065611C>TCA321096570CBSc.531+5G>A (n.531+5G>A)
n.842+5G>A
c.582+5G>A (n.582+5G>A)
c.216+5G>A (n.216+5G>A)
n.902+5G>A
n.681+5G>A
 dbSNP gnomAD v4
21g.43065614A>CCA410601249CBSc.531+2T>G (n.531+2T>G)
n.842+2T>G
c.582+2T>G (n.582+2T>G)
c.216+2T>G (n.216+2T>G)
n.902+2T>G
n.681+2T>G
 gnomAD v3 gnomAD v4
21g.43065614A>GCA410601251CBSc.531+2T>C (n.531+2T>C)
n.842+2T>C
c.582+2T>C (n.582+2T>C)
c.216+2T>C (n.216+2T>C)
n.902+2T>C
n.681+2T>C
21g.43065614A>TCA410601253CBSc.531+2T>A (n.531+2T>A)
n.842+2T>A
c.582+2T>A (n.582+2T>A)
c.216+2T>A (n.216+2T>A)
n.902+2T>A
n.681+2T>A
21g.43065615C>ACA410601257CBSc.531+1G>T (n.531+1G>T)
n.842+1G>T
c.582+1G>T (n.582+1G>T)
c.216+1G>T (n.216+1G>T)
n.902+1G>T
n.681+1G>T
 ClinVar dbSNP
21g.43065615C=CA2391103849CBSc.531+1G= (n.531+1G=)
n.842+1G=
c.582+1G= (n.582+1G=)
c.216+1G= (n.216+1G=)
n.902+1G=
n.681+1G=
21g.43065615C>GCA410601256CBSc.531+1G>C (n.531+1G>C)
n.842+1G>C
c.582+1G>C (n.582+1G>C)
c.216+1G>C (n.216+1G>C)
n.902+1G>C
n.681+1G>C
21g.43065615C>TCA410601254CBSc.531+1G>A (n.531+1G>A)
n.842+1G>A
c.582+1G>A (n.582+1G>A)
c.216+1G>A (n.216+1G>A)
n.902+1G>A
n.681+1G>A
 ClinVar dbSNP
21g.43065618_43065697delCA2695230231CBSc.453_531+1del
n.764_842+1del
c.504_582+1del
c.138_216+1del
n.824_902+1del
n.603_681+1del
21g.43065616C>ACA410601259CBSc.531G>T (p.Lys177Asn)
n.842G>T
c.582G>T (p.Lys194Asn)
c.216G>T (p.Lys72Asn)
n.902G>T
n.681G>T
21g.43065616C=CA2391103850CBSc.531G= (p.Lys177=)
n.842G=
c.582G= (p.Lys194=)
c.216G= (p.Lys72=)
n.902G=
n.681G=
21g.43065616C>GCA16621016CBSc.531G>C (p.Lys177Asn)
n.842G>C
c.582G>C (p.Lys194Asn)
c.216G>C (p.Lys72Asn)
n.902G>C
n.681G>C
 ClinVar dbSNP
21g.43065616C>TCA749580038CBSc.531G>A (p.Lys177=)
n.842G>A
c.582G>A (p.Lys194=)
c.216G>A (p.Lys72=)
n.902G>A
n.681G>A
 dbSNP
21g.43065616_43065617delinsAACA2579806825CBSc.530_531delinsTT (p.Lys177Ile)
n.841_842delinsTT
c.581_582delinsTT (p.Lys194Ile)
c.215_216delinsTT (p.Lys72Ile)
n.901_902delinsTT
n.680_681delinsTT
21g.43065616_43065617delinsACCA2579806815CBSc.530_531delinsGT (p.Lys177Ser)
n.841_842delinsGT
c.581_582delinsGT (p.Lys194Ser)
c.215_216delinsGT (p.Lys72Ser)
n.901_902delinsGT
n.680_681delinsGT
21g.43065616_43065617delinsAGCA2579806814CBSc.530_531delinsCT (p.Lys177Thr)
n.841_842delinsCT
c.581_582delinsCT (p.Lys194Thr)
c.215_216delinsCT (p.Lys72Thr)
n.901_902delinsCT
n.680_681delinsCT
21g.43065616_43065617delinsGCCA2579806818CBSc.530_531delinsGC (p.Lys177Ser)
n.841_842delinsGC
c.581_582delinsGC (p.Lys194Ser)
c.215_216delinsGC (p.Lys72Ser)
n.901_902delinsGC
n.680_681delinsGC
21g.43065616_43065618delinsAAACA2579806819CBSc.529_531delinsTTT (p.Lys177Phe)
n.840_842delinsTTT
c.580_582delinsTTT (p.Lys194Phe)
c.214_216delinsTTT (p.Lys72Phe)
n.900_902delinsTTT
n.679_681delinsTTT
21g.43065616_43065618delinsAACCA2579806811CBSc.529_531delinsGTT (p.Lys177Val)
n.840_842delinsGTT
c.580_582delinsGTT (p.Lys194Val)
c.214_216delinsGTT (p.Lys72Val)
n.900_902delinsGTT
n.679_681delinsGTT
21g.43065616_43065618delinsAAGCA2579806824CBSc.529_531delinsCTT (p.Lys177Leu)
n.840_842delinsCTT
c.580_582delinsCTT (p.Lys194Leu)
c.214_216delinsCTT (p.Lys72Leu)
n.900_902delinsCTT
n.679_681delinsCTT
21g.43065616_43065618delinsACACA2579806827CBSc.529_531delinsTGT (p.Lys177Cys)
n.840_842delinsTGT
c.580_582delinsTGT (p.Lys194Cys)
c.214_216delinsTGT (p.Lys72Cys)
n.900_902delinsTGT
n.679_681delinsTGT
21g.43065616_43065618delinsACCCA2579806826CBSc.529_531delinsGGT (p.Lys177Gly)
n.840_842delinsGGT
c.580_582delinsGGT (p.Lys194Gly)
c.214_216delinsGGT (p.Lys72Gly)
n.900_902delinsGGT
n.679_681delinsGGT
21g.43065616_43065618delinsACGCA2579806830CBSc.529_531delinsCGT (p.Lys177Arg)
n.840_842delinsCGT
c.580_582delinsCGT (p.Lys194Arg)
c.214_216delinsCGT (p.Lys72Arg)
n.900_902delinsCGT
n.679_681delinsCGT
21g.43065616_43065618delinsAGACA2579806816CBSc.529_531delinsTCT (p.Lys177Ser)
n.840_842delinsTCT
c.580_582delinsTCT (p.Lys194Ser)
c.214_216delinsTCT (p.Lys72Ser)
n.900_902delinsTCT
n.679_681delinsTCT
21g.43065616_43065618delinsAGCCA2579806831CBSc.529_531delinsGCT (p.Lys177Ala)
n.840_842delinsGCT
c.580_582delinsGCT (p.Lys194Ala)
c.214_216delinsGCT (p.Lys72Ala)
n.900_902delinsGCT
n.679_681delinsGCT
21g.43065616_43065618delinsAGGCA2579806820CBSc.529_531delinsCCT (p.Lys177Pro)
n.840_842delinsCCT
c.580_582delinsCCT (p.Lys194Pro)
c.214_216delinsCCT (p.Lys72Pro)
n.900_902delinsCCT
n.679_681delinsCCT
21g.43065616_43065618delinsATACA2579806812CBSc.529_531delinsTAT (p.Lys177Tyr)
n.840_842delinsTAT
c.580_582delinsTAT (p.Lys194Tyr)
c.214_216delinsTAT (p.Lys72Tyr)
n.900_902delinsTAT
n.679_681delinsTAT
21g.43065616_43065618delinsATCCA2579806828CBSc.529_531delinsGAT (p.Lys177Asp)
n.840_842delinsGAT
c.580_582delinsGAT (p.Lys194Asp)
c.214_216delinsGAT (p.Lys72Asp)
n.900_902delinsGAT
n.679_681delinsGAT
21g.43065618_43065620delCA2654728355CBSc.529_531del (p.Lys177del)
n.840_842del
c.580_582del (p.Lys194del)
c.214_216del (p.Lys72del)
n.900_902del
n.679_681del
 gnomAD v4
21g.43065617T>ACA410601261CBSc.530A>T (p.Lys177Met)
n.841A>T
c.581A>T (p.Lys194Met)
c.215A>T (p.Lys72Met)
n.901A>T
n.680A>T
21g.43065617T>CCA410601262CBSc.530A>G (p.Lys177Arg)
n.841A>G
c.581A>G (p.Lys194Arg)
c.215A>G (p.Lys72Arg)
n.901A>G
n.680A>G
21g.43065617T>GCA410601263CBSc.530A>C (p.Lys177Thr)
n.841A>C
c.581A>C (p.Lys194Thr)
c.215A>C (p.Lys72Thr)
n.901A>C
n.680A>C
 ClinVar dbSNP
21g.43065617T=CA2391103851CBSc.530A= (p.Lys177=)
n.841A=
c.581A= (p.Lys194=)
c.215A= (p.Lys72=)
n.901A=
n.680A=
21g.43065617_43065618delinsAACA2579806823CBSc.529_530delinsTT (p.Lys177Leu)
n.840_841delinsTT
c.580_581delinsTT (p.Lys194Leu)
c.214_215delinsTT (p.Lys72Leu)
n.900_901delinsTT
n.679_680delinsTT
21g.43065617_43065618delinsACCA2579806810CBSc.529_530delinsGT (p.Lys177Val)
n.840_841delinsGT
c.580_581delinsGT (p.Lys194Val)
c.214_215delinsGT (p.Lys72Val)
n.900_901delinsGT
n.679_680delinsGT
21g.43065617_43065618delinsAGCA2579806822CBSc.529_530delinsCT (p.Lys177Leu)
n.840_841delinsCT
c.580_581delinsCT (p.Lys194Leu)
c.214_215delinsCT (p.Lys72Leu)
n.900_901delinsCT
n.679_680delinsCT
21g.43065617_43065618delinsCACA2579806813CBSc.529_530delinsTG (p.Lys177Trp)
n.840_841delinsTG
c.580_581delinsTG (p.Lys194Trp)
c.214_215delinsTG (p.Lys72Trp)
n.900_901delinsTG
n.679_680delinsTG
21g.43065617_43065618delinsCCCA2579806829CBSc.529_530delinsGG (p.Lys177Gly)
n.840_841delinsGG
c.580_581delinsGG (p.Lys194Gly)
c.214_215delinsGG (p.Lys72Gly)
n.900_901delinsGG
n.679_680delinsGG
21g.43065617_43065618delinsCGCA2579806832CBSc.529_530delinsCG (p.Lys177Arg)
n.840_841delinsCG
c.580_581delinsCG (p.Lys194Arg)
c.214_215delinsCG (p.Lys72Arg)
n.900_901delinsCG
n.679_680delinsCG
21g.43065617_43065618delinsGACA2579806817CBSc.529_530delinsTC (p.Lys177Ser)
n.840_841delinsTC
c.580_581delinsTC (p.Lys194Ser)
c.214_215delinsTC (p.Lys72Ser)
n.900_901delinsTC
n.679_680delinsTC
21g.43065617_43065618delinsGCCA2579806833CBSc.529_530delinsGC (p.Lys177Ala)
n.840_841delinsGC
c.580_581delinsGC (p.Lys194Ala)
c.214_215delinsGC (p.Lys72Ala)
n.900_901delinsGC
n.679_680delinsGC
21g.43065617_43065618delinsGGCA2579806821CBSc.529_530delinsCC (p.Lys177Pro)
n.840_841delinsCC
c.580_581delinsCC (p.Lys194Pro)
c.214_215delinsCC (p.Lys72Pro)
n.900_901delinsCC
n.679_680delinsCC
21g.43065618T>ACA410601265CBSc.529A>T (p.Lys177Ter)
n.840A>T
c.580A>T (p.Lys194Ter)
c.214A>T (p.Lys72Ter)
n.900A>T
n.679A>T
 ClinVar dbSNP
21g.43065618T>CCA410601267CBSc.529A>G (p.Lys177Glu)
n.840A>G
c.580A>G (p.Lys194Glu)
c.214A>G (p.Lys72Glu)
n.900A>G
n.679A>G
21g.43065618T>GCA410601268CBSc.529A>C (p.Lys177Gln)
n.840A>C
c.580A>C (p.Lys194Gln)
c.214A>C (p.Lys72Gln)
n.900A>C
n.679A>C
21g.43065618T=CA2391103852CBSc.529A= (p.Lys177=)
n.840A=
c.580A= (p.Lys194=)
c.214A= (p.Lys72=)
n.900A=
n.679A=
21g.43065619C>ACA410601270CBSc.528G>T (p.Glu176Asp)
n.839G>T
c.579G>T (p.Glu193Asp)
c.213G>T (p.Glu71Asp)
n.899G>T
n.678G>T
21g.43065619C=CA2391103853CBSc.528G= (p.Glu176=)
n.839G=
c.579G= (p.Glu193=)
c.213G= (p.Glu71=)
n.899G=
n.678G=
21g.43065619C>GCA410601272CBSc.528G>C (p.Glu176Asp)
n.839G>C
c.579G>C (p.Glu193Asp)
c.213G>C (p.Glu71Asp)
n.899G>C
n.678G>C
 ClinVar
21g.43065619C>TCA749580041CBSc.528G>A (p.Glu176=)
n.839G>A
c.579G>A (p.Glu193=)
c.213G>A (p.Glu71=)
n.899G>A
n.678G>A
 dbSNP
21g.43065619_43065620delinsAACA2579810070CBSc.527_528delinsTT (p.Glu176Val)
n.838_839delinsTT
c.578_579delinsTT (p.Glu193Val)
c.212_213delinsTT (p.Glu71Val)
n.898_899delinsTT
n.677_678delinsTT
21g.43065619_43065620delinsACCA2579810084CBSc.527_528delinsGT (p.Glu176Gly)
n.838_839delinsGT
c.578_579delinsGT (p.Glu193Gly)
c.212_213delinsGT (p.Glu71Gly)
n.898_899delinsGT
n.677_678delinsGT
21g.43065619_43065620delinsAGCA2579810163CBSc.527_528delinsCT (p.Glu176Ala)
n.838_839delinsCT
c.578_579delinsCT (p.Glu193Ala)
c.212_213delinsCT (p.Glu71Ala)
n.898_899delinsCT
n.677_678delinsCT
21g.43065619_43065621delinsAAACA2579810077CBSc.526_528delinsTTT (p.Glu176Phe)
n.837_839delinsTTT
c.577_579delinsTTT (p.Glu193Phe)
c.211_213delinsTTT (p.Glu71Phe)
n.897_899delinsTTT
n.676_678delinsTTT
21g.43065619_43065621delinsAAGCA2579810080CBSc.526_528delinsCTT (p.Glu176Leu)
n.837_839delinsCTT
c.577_579delinsCTT (p.Glu193Leu)
c.211_213delinsCTT (p.Glu71Leu)
n.897_899delinsCTT
n.676_678delinsCTT
21g.43065619_43065621delinsAATCA2579810082CBSc.526_528delinsATT (p.Glu176Ile)
n.837_839delinsATT
c.577_579delinsATT (p.Glu193Ile)
c.211_213delinsATT (p.Glu71Ile)
n.897_899delinsATT
n.676_678delinsATT
21g.43065619_43065621delinsACACA2579810158CBSc.526_528delinsTGT (p.Glu176Cys)
n.837_839delinsTGT
c.577_579delinsTGT (p.Glu193Cys)
c.211_213delinsTGT (p.Glu71Cys)
n.897_899delinsTGT
n.676_678delinsTGT
21g.43065619_43065621delinsACGCA2579810162CBSc.526_528delinsCGT (p.Glu176Arg)
n.837_839delinsCGT
c.577_579delinsCGT (p.Glu193Arg)
c.211_213delinsCGT (p.Glu71Arg)
n.897_899delinsCGT
n.676_678delinsCGT
21g.43065619_43065621delinsACTCA2579810073CBSc.526_528delinsAGT (p.Glu176Ser)
n.837_839delinsAGT
c.577_579delinsAGT (p.Glu193Ser)
c.211_213delinsAGT (p.Glu71Ser)
n.897_899delinsAGT
n.676_678delinsAGT
21g.43065619_43065621delinsAGACA2579810075CBSc.526_528delinsTCT (p.Glu176Ser)
n.837_839delinsTCT
c.577_579delinsTCT (p.Glu193Ser)
c.211_213delinsTCT (p.Glu71Ser)
n.897_899delinsTCT
n.676_678delinsTCT
21g.43065619_43065621delinsAGGCA2579810076CBSc.526_528delinsCCT (p.Glu176Pro)
n.837_839delinsCCT
c.577_579delinsCCT (p.Glu193Pro)
c.211_213delinsCCT (p.Glu71Pro)
n.897_899delinsCCT
n.676_678delinsCCT
21g.43065619_43065621delinsATACA2579810071CBSc.526_528delinsTAT (p.Glu176Tyr)
n.837_839delinsTAT
c.577_579delinsTAT (p.Glu193Tyr)
c.211_213delinsTAT (p.Glu71Tyr)
n.897_899delinsTAT
n.676_678delinsTAT
21g.43065619_43065621delinsATGCA2579810083CBSc.526_528delinsCAT (p.Glu176His)
n.837_839delinsCAT
c.577_579delinsCAT (p.Glu193His)
c.211_213delinsCAT (p.Glu71His)
n.897_899delinsCAT
n.676_678delinsCAT
21g.43065619_43065621delinsATTCA2579810159CBSc.526_528delinsAAT (p.Glu176Asn)
n.837_839delinsAAT
c.577_579delinsAAT (p.Glu193Asn)
c.211_213delinsAAT (p.Glu71Asn)
n.897_899delinsAAT
n.676_678delinsAAT
21g.43065620T>ACA410601273CBSc.527A>T (p.Glu176Val)
n.838A>T
c.578A>T (p.Glu193Val)
c.212A>T (p.Glu71Val)
n.898A>T
n.677A>T
21g.43065620T>CCA410601275CBSc.527A>G (p.Glu176Gly)
n.838A>G
c.578A>G (p.Glu193Gly)
c.212A>G (p.Glu71Gly)
n.898A>G
n.677A>G
 ClinVar
21g.43065620T>GCA410601277CBSc.527A>C (p.Glu176Ala)
n.838A>C
c.578A>C (p.Glu193Ala)
c.212A>C (p.Glu71Ala)
n.898A>C
n.677A>C
21g.43065620_43065621delinsAACA2579810079CBSc.526_527delinsTT (p.Glu176Leu)
n.837_838delinsTT
c.577_578delinsTT (p.Glu193Leu)
c.211_212delinsTT (p.Glu71Leu)
n.897_898delinsTT
n.676_677delinsTT
21g.43065620_43065621delinsAGCA2579810081CBSc.526_527delinsCT (p.Glu176Leu)
n.837_838delinsCT
c.577_578delinsCT (p.Glu193Leu)
c.211_212delinsCT (p.Glu71Leu)
n.897_898delinsCT
n.676_677delinsCT
21g.43065620_43065621delinsATCA2579810078CBSc.526_527delinsAT (p.Glu176Met)
n.837_838delinsAT
c.577_578delinsAT (p.Glu193Met)
c.211_212delinsAT (p.Glu71Met)
n.897_898delinsAT
n.676_677delinsAT
21g.43065620_43065621delinsCACA2579810072CBSc.526_527delinsTG (p.Glu176Trp)
n.837_838delinsTG
c.577_578delinsTG (p.Glu193Trp)
c.211_212delinsTG (p.Glu71Trp)
n.897_898delinsTG
n.676_677delinsTG
21g.43065620_43065621delinsCGCA2579810161CBSc.526_527delinsCG (p.Glu176Arg)
n.837_838delinsCG
c.577_578delinsCG (p.Glu193Arg)
c.211_212delinsCG (p.Glu71Arg)
n.897_898delinsCG
n.676_677delinsCG
21g.43065620_43065621delinsCTCA2579810160CBSc.526_527delinsAG (p.Glu176Arg)
n.837_838delinsAG
c.577_578delinsAG (p.Glu193Arg)
c.211_212delinsAG (p.Glu71Arg)
n.897_898delinsAG
n.676_677delinsAG
21g.43065620_43065621delinsGACA2579810074CBSc.526_527delinsTC (p.Glu176Ser)
n.837_838delinsTC
c.577_578delinsTC (p.Glu193Ser)
c.211_212delinsTC (p.Glu71Ser)
n.897_898delinsTC
n.676_677delinsTC
21g.43065621C>ACA324559CBSc.526G>T (p.Glu176Ter)
n.837G>T
c.577G>T (p.Glu193Ter)
c.211G>T (p.Glu71Ter)
n.897G>T
n.676G>T
 ClinVar dbSNP
21g.43065621C=CA2391103854CBSc.526G= (p.Glu176=)
n.837G=
c.577G= (p.Glu193=)
c.211G= (p.Glu71=)
n.897G=
n.676G=
21g.43065621C>GCA410601281CBSc.526G>C (p.Glu176Gln)
n.837G>C
c.577G>C (p.Glu193Gln)
c.211G>C (p.Glu71Gln)
n.897G>C
n.676G>C
 ClinVar
21g.43065621C>TCA410601279CBSc.526G>A (p.Glu176Lys)
n.837G>A
c.577G>A (p.Glu193Lys)
c.211G>A (p.Glu71Lys)
n.897G>A
n.676G>A
 ClinVar dbSNP gnomAD v4
21g.43065622G>ACA321096602CBSc.525C>T (p.Ser175=)
n.836C>T
c.576C>T (p.Ser192=)
c.210C>T (p.Ser70=)
n.896C>T
n.675C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
21g.43065622G>CCA2580099035CBSc.525C>G (p.Ser175=)
n.836C>G
c.576C>G (p.Ser192=)
c.210C>G (p.Ser70=)
n.896C>G
n.675C>G
 ClinVar
21g.43065622G=CA2391103855CBSc.525C= (p.Ser175=)
n.836C=
c.576C= (p.Ser192=)
c.210C= (p.Ser70=)
n.896C=
n.675C=
21g.43065622_43065623delinsAACA2579804715CBSc.524_525delinsTT (p.Ser175Phe)
n.835_836delinsTT
c.575_576delinsTT (p.Ser192Phe)
c.209_210delinsTT (p.Ser70Phe)
n.895_896delinsTT
n.674_675delinsTT
21g.43065622_43065623delinsACCA2579804728CBSc.524_525delinsGT (p.Ser175Cys)
n.835_836delinsGT
c.575_576delinsGT (p.Ser192Cys)
c.209_210delinsGT (p.Ser70Cys)
n.895_896delinsGT
n.674_675delinsGT
21g.43065622_43065623delinsATCA2579804686CBSc.524_525delinsAT (p.Ser175Tyr)
n.835_836delinsAT
c.575_576delinsAT (p.Ser192Tyr)
c.209_210delinsAT (p.Ser70Tyr)
n.895_896delinsAT
n.674_675delinsAT
21g.43065622_43065623delinsCACA2579804721CBSc.524_525delinsTG (p.Ser175Leu)
n.835_836delinsTG
c.575_576delinsTG (p.Ser192Leu)
c.209_210delinsTG (p.Ser70Leu)
n.895_896delinsTG
n.674_675delinsTG
21g.43065622_43065623delinsCCCA2579804687CBSc.524_525delinsGG (p.Ser175Trp)
n.835_836delinsGG
c.575_576delinsGG (p.Ser192Trp)
c.209_210delinsGG (p.Ser70Trp)
n.895_896delinsGG
n.674_675delinsGG
21g.43065622_43065623delinsCTCA2579804690CBSc.524_525delinsAG (p.Ser175Ter)
n.835_836delinsAG
c.575_576delinsAG (p.Ser192Ter)
c.209_210delinsAG (p.Ser70Ter)
n.895_896delinsAG
n.674_675delinsAG
21g.43065622_43065623delinsTACA2579804719CBSc.524_525delinsTA (p.Ser175Leu)
n.835_836delinsTA
c.575_576delinsTA (p.Ser192Leu)
c.209_210delinsTA (p.Ser70Leu)
n.895_896delinsTA
n.674_675delinsTA
21g.43065622_43065624delinsAACCA2579804684CBSc.523_525delinsGTT (p.Ser175Val)
n.834_836delinsGTT
c.574_576delinsGTT (p.Ser192Val)
c.208_210delinsGTT (p.Ser70Val)
n.894_896delinsGTT
n.673_675delinsGTT
21g.43065622_43065624delinsAAGCA2579804720CBSc.523_525delinsCTT (p.Ser175Leu)
n.834_836delinsCTT
c.574_576delinsCTT (p.Ser192Leu)
c.208_210delinsCTT (p.Ser70Leu)
n.894_896delinsCTT
n.673_675delinsCTT
21g.43065622_43065624delinsAATCA2579804722CBSc.523_525delinsATT (p.Ser175Ile)
n.834_836delinsATT
c.574_576delinsATT (p.Ser192Ile)
c.208_210delinsATT (p.Ser70Ile)
n.894_896delinsATT
n.673_675delinsATT
21g.43065622_43065624delinsACCCA2579804724CBSc.523_525delinsGGT (p.Ser175Gly)
n.834_836delinsGGT
c.574_576delinsGGT (p.Ser192Gly)
c.208_210delinsGGT (p.Ser70Gly)
n.894_896delinsGGT
n.673_675delinsGGT
21g.43065622_43065624delinsACGCA2579804731CBSc.523_525delinsCGT (p.Ser175Arg)
n.834_836delinsCGT
c.574_576delinsCGT (p.Ser192Arg)
c.208_210delinsCGT (p.Ser70Arg)
n.894_896delinsCGT
n.673_675delinsCGT
21g.43065622_43065624delinsACTCA2579804735CBSc.523_525delinsAGT (p.Ser175=)
n.834_836delinsAGT
c.574_576delinsAGT (p.Ser192=)
c.208_210delinsAGT (p.Ser70=)
n.894_896delinsAGT
n.673_675delinsAGT
21g.43065622_43065624delinsAGCCA2579804734CBSc.523_525delinsGCT (p.Ser175Ala)
n.834_836delinsGCT
c.574_576delinsGCT (p.Ser192Ala)
c.208_210delinsGCT (p.Ser70Ala)
n.894_896delinsGCT
n.673_675delinsGCT
21g.43065622_43065624delinsAGGCA2579804691CBSc.523_525delinsCCT (p.Ser175Pro)
n.834_836delinsCCT
c.574_576delinsCCT (p.Ser192Pro)
c.208_210delinsCCT (p.Ser70Pro)
n.894_896delinsCCT
n.673_675delinsCCT
21g.43065622_43065624delinsAGTCA2579804689CBSc.523_525delinsACT (p.Ser175Thr)
n.834_836delinsACT
c.574_576delinsACT (p.Ser192Thr)
c.208_210delinsACT (p.Ser70Thr)
n.894_896delinsACT
n.673_675delinsACT
21g.43065622_43065624delinsATCCA2579804729CBSc.523_525delinsGAT (p.Ser175Asp)
n.834_836delinsGAT
c.574_576delinsGAT (p.Ser192Asp)
c.208_210delinsGAT (p.Ser70Asp)
n.894_896delinsGAT
n.673_675delinsGAT
21g.43065622_43065624delinsATGCA2579804723CBSc.523_525delinsCAT (p.Ser175His)
n.834_836delinsCAT
c.574_576delinsCAT (p.Ser192His)
c.208_210delinsCAT (p.Ser70His)
n.894_896delinsCAT
n.673_675delinsCAT
21g.43065622_43065624delinsATTCA2579804730CBSc.523_525delinsAAT (p.Ser175Asn)
n.834_836delinsAAT
c.574_576delinsAAT (p.Ser192Asn)
c.208_210delinsAAT (p.Ser70Asn)
n.894_896delinsAAT
n.673_675delinsAAT
21g.43065622_43065624delinsCACCA2579804685CBSc.523_525delinsGTG (p.Ser175Val)
n.834_836delinsGTG
c.574_576delinsGTG (p.Ser192Val)
c.208_210delinsGTG (p.Ser70Val)
n.894_896delinsGTG
n.673_675delinsGTG
21g.43065622_43065624delinsCAGCA2579804718CBSc.523_525delinsCTG (p.Ser175Leu)
n.834_836delinsCTG
c.574_576delinsCTG (p.Ser192Leu)
c.208_210delinsCTG (p.Ser70Leu)
n.894_896delinsCTG
n.673_675delinsCTG
21g.43065622_43065624delinsCATCA2579804716CBSc.523_525delinsATG (p.Ser175Met)
n.834_836delinsATG
c.574_576delinsATG (p.Ser192Met)
c.208_210delinsATG (p.Ser70Met)
n.894_896delinsATG
n.673_675delinsATG
21g.43065622_43065624delinsCCCCA2579804725CBSc.523_525delinsGGG (p.Ser175Gly)
n.834_836delinsGGG
c.574_576delinsGGG (p.Ser192Gly)
c.208_210delinsGGG (p.Ser70Gly)
n.894_896delinsGGG
n.673_675delinsGGG
21g.43065622_43065624delinsCCGCA2579804733CBSc.523_525delinsCGG (p.Ser175Arg)
n.834_836delinsCGG
c.574_576delinsCGG (p.Ser192Arg)
c.208_210delinsCGG (p.Ser70Arg)
n.894_896delinsCGG
n.673_675delinsCGG
21g.43065622_43065624delinsCCTCA2579804732CBSc.523_525delinsAGG (p.Ser175Arg)
n.834_836delinsAGG
c.574_576delinsAGG (p.Ser192Arg)
c.208_210delinsAGG (p.Ser70Arg)
n.894_896delinsAGG
n.673_675delinsAGG
21g.43065622_43065624delinsCGTCA2579804688CBSc.523_525delinsACG (p.Ser175Thr)
n.834_836delinsACG
c.574_576delinsACG (p.Ser192Thr)
c.208_210delinsACG (p.Ser70Thr)
n.894_896delinsACG
n.673_675delinsACG
21g.43065622_43065624delinsCTCCA2579804727CBSc.523_525delinsGAG (p.Ser175Glu)
n.834_836delinsGAG
c.574_576delinsGAG (p.Ser192Glu)
c.208_210delinsGAG (p.Ser70Glu)
n.894_896delinsGAG
n.673_675delinsGAG
21g.43065622_43065624delinsCTTCA2579804717CBSc.523_525delinsAAG (p.Ser175Lys)
n.834_836delinsAAG
c.574_576delinsAAG (p.Ser192Lys)
c.208_210delinsAAG (p.Ser70Lys)
n.894_896delinsAAG
n.673_675delinsAAG
21g.43065622_43065624delinsTCCCA2579813464CBSc.523_525delinsGGA (p.Ser175Gly)
n.834_836delinsGGA
c.574_576delinsGGA (p.Ser192Gly)
c.208_210delinsGGA (p.Ser70Gly)
n.894_896delinsGGA
n.673_675delinsGGA
21g.43065623G>ACA410601286CBSc.524C>T (p.Ser175Phe)
n.835C>T
c.575C>T (p.Ser192Phe)
c.209C>T (p.Ser70Phe)
n.895C>T
n.674C>T
21g.43065623G>CCA410601288CBSc.524C>G (p.Ser175Cys)
n.835C>G
c.575C>G (p.Ser192Cys)
c.209C>G (p.Ser70Cys)
n.895C>G
n.674C>G
21g.43065623G>TCA410601289CBSc.524C>A (p.Ser175Tyr)
n.835C>A
c.575C>A (p.Ser192Tyr)
c.209C>A (p.Ser70Tyr)
n.895C>A
n.674C>A
 gnomAD v4
21g.43065623_43065624delinsCCCA2579804726CBSc.523_524delinsGG (p.Ser175Gly)
n.834_835delinsGG
c.574_575delinsGG (p.Ser192Gly)
c.208_209delinsGG (p.Ser70Gly)
n.894_895delinsGG
n.673_674delinsGG
21g.43065624A>CCA410601291CBSc.523T>G (p.Ser175Ala)
n.834T>G
c.574T>G (p.Ser192Ala)
c.208T>G (p.Ser70Ala)
n.894T>G
n.673T>G
21g.43065624A>GCA410601293CBSc.523T>C (p.Ser175Pro)
n.834T>C
c.574T>C (p.Ser192Pro)
c.208T>C (p.Ser70Pro)
n.894T>C
n.673T>C
21g.43065624A>TCA410601295CBSc.523T>A (p.Ser175Thr)
n.834T>A
c.574T>A (p.Ser192Thr)
c.208T>A (p.Ser70Thr)
n.894T>A
n.673T>A
 gnomAD v4
21g.43065625G>ACA749580043CBSc.522C>T (p.Ser174=)
n.833C>T
c.573C>T (p.Ser191=)
c.207C>T (p.Ser69=)
n.893C>T
n.672C>T
 ClinVar dbSNP
21g.43065625G>CCA410601296CBSc.522C>G (p.Ser174Arg)
n.833C>G
c.573C>G (p.Ser191Arg)
c.207C>G (p.Ser69Arg)
n.893C>G
n.672C>G
21g.43065625G=CA2391103856CBSc.522C= (p.Ser174=)
n.833C=
c.573C= (p.Ser191=)
c.207C= (p.Ser69=)
n.893C=
n.672C=
21g.43065625G>TCA410601297CBSc.522C>A (p.Ser174Arg)
n.833C>A
c.573C>A (p.Ser191Arg)
c.207C>A (p.Ser69Arg)
n.893C>A
n.672C>A
21g.43065625_43065626delinsAACA2579804750CBSc.521_522delinsTT (p.Ser174Ile)
n.832_833delinsTT
c.572_573delinsTT (p.Ser191Ile)
c.206_207delinsTT (p.Ser69Ile)
n.892_893delinsTT
n.671_672delinsTT
21g.43065625_43065626delinsATCA2579804757CBSc.521_522delinsAT (p.Ser174Asn)
n.832_833delinsAT
c.572_573delinsAT (p.Ser191Asn)
c.206_207delinsAT (p.Ser69Asn)
n.892_893delinsAT
n.671_672delinsAT
21g.43065625_43065626delinsCACA2579804745CBSc.521_522delinsTG (p.Ser174Met)
n.832_833delinsTG
c.572_573delinsTG (p.Ser191Met)
c.206_207delinsTG (p.Ser69Met)
n.892_893delinsTG
n.671_672delinsTG
21g.43065625_43065626delinsCGCA2579804741CBSc.521_522delinsCG (p.Ser174Thr)
n.832_833delinsCG
c.572_573delinsCG (p.Ser191Thr)
c.206_207delinsCG (p.Ser69Thr)
n.892_893delinsCG
n.671_672delinsCG
21g.43065625_43065626delinsCTCA2579804746CBSc.521_522delinsAG (p.Ser174Lys)
n.832_833delinsAG
c.572_573delinsAG (p.Ser191Lys)
c.206_207delinsAG (p.Ser69Lys)
n.892_893delinsAG
n.671_672delinsAG
21g.43065625_43065627delinsAAACA2579804743CBSc.520_522delinsTTT (p.Ser174Phe)
n.831_833delinsTTT
c.571_573delinsTTT (p.Ser191Phe)
c.205_207delinsTTT (p.Ser69Phe)
n.891_893delinsTTT
n.670_672delinsTTT
21g.43065625_43065627delinsAACCA2579804736CBSc.520_522delinsGTT (p.Ser174Val)
n.831_833delinsGTT
c.571_573delinsGTT (p.Ser191Val)
c.205_207delinsGTT (p.Ser69Val)
n.891_893delinsGTT
n.670_672delinsGTT
21g.43065625_43065627delinsAAGCA2579804749CBSc.520_522delinsCTT (p.Ser174Leu)
n.831_833delinsCTT
c.571_573delinsCTT (p.Ser191Leu)
c.205_207delinsCTT (p.Ser69Leu)
n.891_893delinsCTT
n.670_672delinsCTT
21g.43065625_43065627delinsACACA2579804756CBSc.520_522delinsTGT (p.Ser174Cys)
n.831_833delinsTGT
c.571_573delinsTGT (p.Ser191Cys)
c.205_207delinsTGT (p.Ser69Cys)
n.891_893delinsTGT
n.670_672delinsTGT
21g.43065625_43065627delinsACCCA2579804753CBSc.520_522delinsGGT (p.Ser174Gly)
n.831_833delinsGGT
c.571_573delinsGGT (p.Ser191Gly)
c.205_207delinsGGT (p.Ser69Gly)
n.891_893delinsGGT
n.670_672delinsGGT
21g.43065625_43065627delinsACGCA2579804758CBSc.520_522delinsCGT (p.Ser174Arg)
n.831_833delinsCGT
c.571_573delinsCGT (p.Ser191Arg)
c.205_207delinsCGT (p.Ser69Arg)
n.891_893delinsCGT
n.670_672delinsCGT
21g.43065625_43065627delinsAGACA2579804761CBSc.520_522delinsTCT (p.Ser174=)
n.831_833delinsTCT
c.571_573delinsTCT (p.Ser191=)
c.205_207delinsTCT (p.Ser69=)
n.891_893delinsTCT
n.670_672delinsTCT
21g.43065625_43065627delinsAGCCA2579804760CBSc.520_522delinsGCT (p.Ser174Ala)
n.831_833delinsGCT
c.571_573delinsGCT (p.Ser191Ala)
c.205_207delinsGCT (p.Ser69Ala)
n.891_893delinsGCT
n.670_672delinsGCT
21g.43065625_43065627delinsATACA2579804739CBSc.520_522delinsTAT (p.Ser174Tyr)
n.831_833delinsTAT
c.571_573delinsTAT (p.Ser191Tyr)
c.205_207delinsTAT (p.Ser69Tyr)
n.891_893delinsTAT
n.670_672delinsTAT
21g.43065625_43065627delinsATCCA2579804755CBSc.520_522delinsGAT (p.Ser174Asp)
n.831_833delinsGAT
c.571_573delinsGAT (p.Ser191Asp)
c.205_207delinsGAT (p.Ser69Asp)
n.891_893delinsGAT
n.670_672delinsGAT
21g.43065625_43065627delinsATGCA2579804752CBSc.520_522delinsCAT (p.Ser174His)
n.831_833delinsCAT
c.571_573delinsCAT (p.Ser191His)
c.205_207delinsCAT (p.Ser69His)
n.891_893delinsCAT
n.670_672delinsCAT
21g.43065625_43065627delinsCAACA2579804747CBSc.520_522delinsTTG (p.Ser174Leu)
n.831_833delinsTTG
c.571_573delinsTTG (p.Ser191Leu)
c.205_207delinsTTG (p.Ser69Leu)
n.891_893delinsTTG
n.670_672delinsTTG
21g.43065625_43065627delinsCACCA2579804737CBSc.520_522delinsGTG (p.Ser174Val)
n.831_833delinsGTG
c.571_573delinsGTG (p.Ser191Val)
c.205_207delinsGTG (p.Ser69Val)
n.891_893delinsGTG
n.670_672delinsGTG
21g.43065625_43065627delinsCAGCA2579804748CBSc.520_522delinsCTG (p.Ser174Leu)
n.831_833delinsCTG
c.571_573delinsCTG (p.Ser191Leu)
c.205_207delinsCTG (p.Ser69Leu)
n.891_893delinsCTG
n.670_672delinsCTG
21g.43065625_43065627delinsCCACA2579804740CBSc.520_522delinsTGG (p.Ser174Trp)
n.831_833delinsTGG
c.571_573delinsTGG (p.Ser191Trp)
c.205_207delinsTGG (p.Ser69Trp)
n.891_893delinsTGG
n.670_672delinsTGG
21g.43065625_43065627delinsCCCCA2579804751CBSc.520_522delinsGGG (p.Ser174Gly)
n.831_833delinsGGG
c.571_573delinsGGG (p.Ser191Gly)
c.205_207delinsGGG (p.Ser69Gly)
n.891_893delinsGGG
n.670_672delinsGGG
21g.43065625_43065627delinsCCGCA2579813465CBSc.520_522delinsCGG (p.Ser174Arg)
n.831_833delinsCGG
c.571_573delinsCGG (p.Ser191Arg)
c.205_207delinsCGG (p.Ser69Arg)
n.891_893delinsCGG
n.670_672delinsCGG
21g.43065625_43065627delinsCGACA2579804759CBSc.520_522delinsTCG (p.Ser174=)
n.831_833delinsTCG
c.571_573delinsTCG (p.Ser191=)
c.205_207delinsTCG (p.Ser69=)
n.891_893delinsTCG
n.670_672delinsTCG
21g.43065625_43065627delinsCGGCA2579804744CBSc.520_522delinsCCG (p.Ser174Pro)
n.831_833delinsCCG
c.571_573delinsCCG (p.Ser191Pro)
c.205_207delinsCCG (p.Ser69Pro)
n.891_893delinsCCG
n.670_672delinsCCG
21g.43065625_43065627delinsTCACA2579804742CBSc.520_522delinsTGA (p.Ser174Ter)
n.831_833delinsTGA
c.571_573delinsTGA (p.Ser191Ter)
c.205_207delinsTGA (p.Ser69Ter)
n.891_893delinsTGA
n.670_672delinsTGA
21g.43065625_43065627delinsTCCCA2579804754CBSc.520_522delinsGGA (p.Ser174Gly)
n.831_833delinsGGA
c.571_573delinsGGA (p.Ser191Gly)
c.205_207delinsGGA (p.Ser69Gly)
n.891_893delinsGGA
n.670_672delinsGGA
21g.43065626C>ACA410601299CBSc.521G>T (p.Ser174Ile)
n.832G>T
c.572G>T (p.Ser191Ile)
c.206G>T (p.Ser69Ile)
n.892G>T
n.671G>T
21g.43065626C=CA2391103857CBSc.521G= (p.Ser174=)
n.832G=
c.572G= (p.Ser191=)
c.206G= (p.Ser69=)
n.892G=
n.671G=
21g.43065626C>GCA410601300CBSc.521G>C (p.Ser174Thr)
n.832G>C
c.572G>C (p.Ser191Thr)
c.206G>C (p.Ser69Thr)
n.892G>C
n.671G>C
21g.43065626C>TCA410601301CBSc.521G>A (p.Ser174Asn)
n.832G>A
c.572G>A (p.Ser191Asn)
c.206G>A (p.Ser69Asn)
n.892G>A
n.671G>A
 dbSNP
21g.43065626_43065627delinsACCA2579804738CBSc.520_521delinsGT (p.Ser174Val)
n.831_832delinsGT
c.571_572delinsGT (p.Ser191Val)
c.205_206delinsGT (p.Ser69Val)
n.891_892delinsGT
n.670_671delinsGT
21g.43065627T>ACA410601304CBSc.520A>T (p.Ser174Cys)
n.831A>T
c.571A>T (p.Ser191Cys)
c.205A>T (p.Ser69Cys)
n.891A>T
n.670A>T
21g.43065627T>CCA410601303CBSc.520A>G (p.Ser174Gly)
n.831A>G
c.571A>G (p.Ser191Gly)
c.205A>G (p.Ser69Gly)
n.891A>G
n.670A>G
21g.43065627T>GCA410601302CBSc.520A>C (p.Ser174Arg)
n.831A>C
c.571A>C (p.Ser191Arg)
c.205A>C (p.Ser69Arg)
n.891A>C
n.670A>C
21g.43065629_43065631delCA2695230232CBSc.518_520del (p.Met173del)
n.829_831del
c.569_571del (p.Met190del)
c.203_205del (p.Met68del)
n.889_891del
n.668_670del
21g.43065628C>ACA410601308CBSc.519G>T (p.Met173Ile)
n.830G>T
c.570G>T (p.Met190Ile)
c.204G>T (p.Met68Ile)
n.890G>T
n.669G>T
21g.43065628C=CA2391103858CBSc.519G= (p.Met173=)
n.830G=
c.570G= (p.Met190=)
c.204G= (p.Met68=)
n.890G=
n.669G=
21g.43065628C>GCA410601306CBSc.519G>C (p.Met173Ile)
n.830G>C
c.570G>C (p.Met190Ile)
c.204G>C (p.Met68Ile)
n.890G>C
n.669G>C
21g.43065628C>TCA321096619CBSc.519G>A (p.Met173Ile)
n.830G>A
c.570G>A (p.Met190Ile)
c.204G>A (p.Met68Ile)
n.890G>A
n.669G>A
 dbSNP
21g.43065628_43065629delinsACCA2579805781CBSc.518_519delinsGT (p.Met173Ser)
n.829_830delinsGT
c.569_570delinsGT (p.Met190Ser)
c.203_204delinsGT (p.Met68Ser)
n.889_890delinsGT
n.668_669delinsGT
21g.43065628_43065629delinsAGCA2579805777CBSc.518_519delinsCT (p.Met173Thr)
n.829_830delinsCT
c.569_570delinsCT (p.Met190Thr)
c.203_204delinsCT (p.Met68Thr)
n.889_890delinsCT
n.668_669delinsCT
21g.43065628_43065629delinsATCA2579805787CBSc.518_519delinsAT (p.Met173Asn)
n.829_830delinsAT
c.569_570delinsAT (p.Met190Asn)
c.203_204delinsAT (p.Met68Asn)
n.889_890delinsAT
n.668_669delinsAT
21g.43065628_43065630delinsAAACA2579805783CBSc.517_519delinsTTT (p.Met173Phe)
n.828_830delinsTTT
c.568_570delinsTTT (p.Met190Phe)
c.202_204delinsTTT (p.Met68Phe)
n.888_890delinsTTT
n.667_669delinsTTT
21g.43065628_43065630delinsAACCA2579805775CBSc.517_519delinsGTT (p.Met173Val)
n.828_830delinsGTT
c.568_570delinsGTT (p.Met190Val)
c.202_204delinsGTT (p.Met68Val)
n.888_890delinsGTT
n.667_669delinsGTT
21g.43065628_43065630delinsAAGCA2579805784CBSc.517_519delinsCTT (p.Met173Leu)
n.828_830delinsCTT
c.568_570delinsCTT (p.Met190Leu)
c.202_204delinsCTT (p.Met68Leu)
n.888_890delinsCTT
n.667_669delinsCTT
21g.43065628_43065630delinsACACA2579805788CBSc.517_519delinsTGT (p.Met173Cys)
n.828_830delinsTGT
c.568_570delinsTGT (p.Met190Cys)
c.202_204delinsTGT (p.Met68Cys)
n.888_890delinsTGT
n.667_669delinsTGT
21g.43065628_43065630delinsAGACA2579805780CBSc.517_519delinsTCT (p.Met173Ser)
n.828_830delinsTCT
c.568_570delinsTCT (p.Met190Ser)
c.202_204delinsTCT (p.Met68Ser)
n.888_890delinsTCT
n.667_669delinsTCT
21g.43065628_43065630delinsAGCCA2579813542CBSc.517_519delinsGCT (p.Met173Ala)
n.828_830delinsGCT
c.568_570delinsGCT (p.Met190Ala)
c.202_204delinsGCT (p.Met68Ala)
n.888_890delinsGCT
n.667_669delinsGCT
21g.43065628_43065630delinsAGGCA2579805782CBSc.517_519delinsCCT (p.Met173Pro)
n.828_830delinsCCT
c.568_570delinsCCT (p.Met190Pro)
c.202_204delinsCCT (p.Met68Pro)
n.888_890delinsCCT
n.667_669delinsCCT
21g.43065628_43065630delinsATACA2579805774CBSc.517_519delinsTAT (p.Met173Tyr)
n.828_830delinsTAT
c.568_570delinsTAT (p.Met190Tyr)
c.202_204delinsTAT (p.Met68Tyr)
n.888_890delinsTAT
n.667_669delinsTAT
21g.43065628_43065630delinsATGCA2579813541CBSc.517_519delinsCAT (p.Met173His)
n.828_830delinsCAT
c.568_570delinsCAT (p.Met190His)
c.202_204delinsCAT (p.Met68His)
n.888_890delinsCAT
n.667_669delinsCAT
21g.43065629A=CA2391103859CBSc.518T= (p.Met173=)
n.829T=
c.569T= (p.Met190=)
c.203T= (p.Met68=)
n.889T=
n.668T=
21g.43065629A>CCA410601310CBSc.518T>G (p.Met173Arg)
n.829T>G
c.569T>G (p.Met190Arg)
c.203T>G (p.Met68Arg)
n.889T>G
n.668T>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43065629A>GCA410601311CBSc.518T>C (p.Met173Thr)
n.829T>C
c.569T>C (p.Met190Thr)
c.203T>C (p.Met68Thr)
n.889T>C
n.668T>C
21g.43065629A>TCA410601312CBSc.518T>A (p.Met173Lys)
n.829T>A
c.569T>A (p.Met190Lys)
c.203T>A (p.Met68Lys)
n.889T>A
n.668T>A
21g.43065629_43065630delinsCACA2579805776CBSc.517_518delinsTG (p.Met173Trp)
n.828_829delinsTG
c.568_569delinsTG (p.Met190Trp)
c.202_203delinsTG (p.Met68Trp)
n.888_889delinsTG
n.667_668delinsTG
21g.43065629_43065630delinsCCCA2579805785CBSc.517_518delinsGG (p.Met173Gly)
n.828_829delinsGG
c.568_569delinsGG (p.Met190Gly)
c.202_203delinsGG (p.Met68Gly)
n.888_889delinsGG
n.667_668delinsGG
21g.43065629_43065630delinsCGCA2579805789CBSc.517_518delinsCG (p.Met173Arg)
n.828_829delinsCG
c.568_569delinsCG (p.Met190Arg)
c.202_203delinsCG (p.Met68Arg)
n.888_889delinsCG
n.667_668delinsCG
21g.43065629_43065630delinsGACA2579805779CBSc.517_518delinsTC (p.Met173Ser)
n.828_829delinsTC
c.568_569delinsTC (p.Met190Ser)
c.202_203delinsTC (p.Met68Ser)
n.888_889delinsTC
n.667_668delinsTC
21g.43065629_43065630delinsGCCA2579805790CBSc.517_518delinsGC (p.Met173Ala)
n.828_829delinsGC
c.568_569delinsGC (p.Met190Ala)
c.202_203delinsGC (p.Met68Ala)
n.888_889delinsGC
n.667_668delinsGC
21g.43065629_43065630delinsTACA2579805778CBSc.517_518delinsTA (p.Met173Ter)
n.828_829delinsTA
c.568_569delinsTA (p.Met190Ter)
c.202_203delinsTA (p.Met68Ter)
n.888_889delinsTA
n.667_668delinsTA
21g.43065629_43065630delinsTCCA2579805786CBSc.517_518delinsGA (p.Met173Glu)
n.828_829delinsGA
c.568_569delinsGA (p.Met190Glu)
c.202_203delinsGA (p.Met68Glu)
n.888_889delinsGA
n.667_668delinsGA
21g.43065629_43065632delinsATCTCA2391103860CBSc.515_518delinsAGAT (p.Lys172=)
n.826_829delinsAGAT
c.566_569delinsAGAT (p.Lys189=)
c.200_203delinsAGAT (p.Lys67=)
n.886_889delinsAGAT
n.665_668delinsAGAT
21g.43065630T>ACA410601313CBSc.517A>T (p.Met173Leu)
n.828A>T
c.568A>T (p.Met190Leu)
c.202A>T (p.Met68Leu)
n.888A>T
n.667A>T
21g.43065630T>CCA410601314CBSc.517A>G (p.Met173Val)
n.828A>G
c.568A>G (p.Met190Val)
c.202A>G (p.Met68Val)
n.888A>G
n.667A>G
21g.43065630T>GCA410601316CBSc.517A>C (p.Met173Leu)
n.828A>C
c.568A>C (p.Met190Leu)
c.202A>C (p.Met68Leu)
n.888A>C
n.667A>C
21g.43065633_43065635delCA749580046CBSc.515_517del (p.Lys172del)
n.826_828del
c.566_568del (p.Lys189del)
c.200_202del (p.Lys67del)
n.886_888del
n.665_667del
 dbSNP
21g.43065631C>ACA410601318CBSc.516G>T (p.Lys172Asn)
n.827G>T
c.567G>T (p.Lys189Asn)
c.201G>T (p.Lys67Asn)
n.887G>T
n.666G>T
21g.43065631C>GCA410601319CBSc.516G>C (p.Lys172Asn)
n.827G>C
c.567G>C (p.Lys189Asn)
c.201G>C (p.Lys67Asn)
n.887G>C
n.666G>C
21g.43065631C>TCA2579806849CBSc.516G>A (p.Lys172=)
n.827G>A
c.567G>A (p.Lys189=)
c.201G>A (p.Lys67=)
n.887G>A
n.666G>A
21g.43065631_43065632delinsAACA2579806844CBSc.515_516delinsTT (p.Lys172Ile)
n.826_827delinsTT
c.566_567delinsTT (p.Lys189Ile)
c.200_201delinsTT (p.Lys67Ile)
n.886_887delinsTT
n.665_666delinsTT
21g.43065631_43065632delinsACCA2579806839CBSc.515_516delinsGT (p.Lys172Ser)
n.826_827delinsGT
c.566_567delinsGT (p.Lys189Ser)
c.200_201delinsGT (p.Lys67Ser)
n.886_887delinsGT
n.665_666delinsGT
21g.43065631_43065633delinsAAACA2579806843CBSc.514_516delinsTTT (p.Lys172Phe)
n.825_827delinsTTT
c.565_567delinsTTT (p.Lys189Phe)
c.199_201delinsTTT (p.Lys67Phe)
n.885_887delinsTTT
n.664_666delinsTTT
21g.43065631_43065633delinsAACCA2579806834CBSc.514_516delinsGTT (p.Lys172Val)
n.825_827delinsGTT
c.565_567delinsGTT (p.Lys189Val)
c.199_201delinsGTT (p.Lys67Val)
n.885_887delinsGTT
n.664_666delinsGTT
21g.43065631_43065633delinsAAGCA2579806842CBSc.514_516delinsCTT (p.Lys172Leu)
n.825_827delinsCTT
c.565_567delinsCTT (p.Lys189Leu)
c.199_201delinsCTT (p.Lys67Leu)
n.885_887delinsCTT
n.664_666delinsCTT
21g.43065631_43065633delinsACACA2579806847CBSc.514_516delinsTGT (p.Lys172Cys)
n.825_827delinsTGT
c.565_567delinsTGT (p.Lys189Cys)
c.199_201delinsTGT (p.Lys67Cys)
n.885_887delinsTGT
n.664_666delinsTGT
21g.43065631_43065633delinsACCCA2579806845CBSc.514_516delinsGGT (p.Lys172Gly)
n.825_827delinsGGT
c.565_567delinsGGT (p.Lys189Gly)
c.199_201delinsGGT (p.Lys67Gly)
n.885_887delinsGGT
n.664_666delinsGGT
21g.43065631_43065633delinsAGACA2579806838CBSc.514_516delinsTCT (p.Lys172Ser)
n.825_827delinsTCT
c.565_567delinsTCT (p.Lys189Ser)
c.199_201delinsTCT (p.Lys67Ser)
n.885_887delinsTCT
n.664_666delinsTCT
21g.43065631_43065633delinsAGCCA2579806851CBSc.514_516delinsGCT (p.Lys172Ala)
n.825_827delinsGCT
c.565_567delinsGCT (p.Lys189Ala)
c.199_201delinsGCT (p.Lys67Ala)
n.885_887delinsGCT
n.664_666delinsGCT
21g.43065631_43065633delinsATACA2579806835CBSc.514_516delinsTAT (p.Lys172Tyr)
n.825_827delinsTAT
c.565_567delinsTAT (p.Lys189Tyr)
c.199_201delinsTAT (p.Lys67Tyr)
n.885_887delinsTAT
n.664_666delinsTAT
21g.43065631_43065633delinsATCCA2579806848CBSc.514_516delinsGAT (p.Lys172Asp)
n.825_827delinsGAT
c.565_567delinsGAT (p.Lys189Asp)
c.199_201delinsGAT (p.Lys67Asp)
n.885_887delinsGAT
n.664_666delinsGAT
21g.43065631_43065633delinsATGCA2579806846CBSc.514_516delinsCAT (p.Lys172His)
n.825_827delinsCAT
c.565_567delinsCAT (p.Lys189His)
c.199_201delinsCAT (p.Lys67His)
n.885_887delinsCAT
n.664_666delinsCAT
21g.43065632T>ACA410601321CBSc.515A>T (p.Lys172Met)
n.826A>T
c.566A>T (p.Lys189Met)
c.200A>T (p.Lys67Met)
n.886A>T
n.665A>T
21g.43065632T>CCA410601322CBSc.515A>G (p.Lys172Arg)
n.826A>G
c.566A>G (p.Lys189Arg)
c.200A>G (p.Lys67Arg)
n.886A>G
n.665A>G
21g.43065632T>GCA410601324CBSc.515A>C (p.Lys172Thr)
n.826A>C
c.566A>C (p.Lys189Thr)
c.200A>C (p.Lys67Thr)
n.886A>C
n.665A>C
21g.43065632_43065633delinsAACA2579806841CBSc.514_515delinsTT (p.Lys172Leu)
n.825_826delinsTT
c.565_566delinsTT (p.Lys189Leu)
c.199_200delinsTT (p.Lys67Leu)
n.885_886delinsTT
n.664_665delinsTT
21g.43065632_43065633delinsACCA2579806836CBSc.514_515delinsGT (p.Lys172Val)
n.825_826delinsGT
c.565_566delinsGT (p.Lys189Val)
c.199_200delinsGT (p.Lys67Val)
n.885_886delinsGT
n.664_665delinsGT
21g.43065632_43065633delinsCACA2579806837CBSc.514_515delinsTG (p.Lys172Trp)
n.825_826delinsTG
c.565_566delinsTG (p.Lys189Trp)
c.199_200delinsTG (p.Lys67Trp)
n.885_886delinsTG
n.664_665delinsTG
21g.43065632_43065633delinsGACA2579806840CBSc.514_515delinsTC (p.Lys172Ser)
n.825_826delinsTC
c.565_566delinsTC (p.Lys189Ser)
c.199_200delinsTC (p.Lys67Ser)
n.885_886delinsTC
n.664_665delinsTC
21g.43065633T>ACA410601328CBSc.514A>T (p.Lys172Ter)
n.825A>T
c.565A>T (p.Lys189Ter)
c.199A>T (p.Lys67Ter)
n.885A>T
n.664A>T
21g.43065633T>CCA410601326CBSc.514A>G (p.Lys172Glu)
n.825A>G
c.565A>G (p.Lys189Glu)
c.199A>G (p.Lys67Glu)
n.885A>G
n.664A>G
21g.43065633T>GCA410601327CBSc.514A>C (p.Lys172Gln)
n.825A>C
c.565A>C (p.Lys189Gln)
c.199A>C (p.Lys67Gln)
n.885A>C
n.664A>C
21g.43065633_43065654delCA2695230233CBSc.493_514del (p.Cys165ArgfsTer2)
n.804_825del
c.544_565del (p.Cys182ArgfsTer2)
c.178_199del (p.Cys60ArgfsTer2)
n.864_885del
n.643_664del
21g.43065634C>ACA410601330CBSc.513G>T (p.Glu171Asp)
n.824G>T
c.564G>T (p.Glu188Asp)
c.198G>T (p.Glu66Asp)
n.884G>T
n.663G>T
21g.43065634C>GCA410601332CBSc.513G>C (p.Glu171Asp)
n.824G>C
c.564G>C (p.Glu188Asp)
c.198G>C (p.Glu66Asp)
n.884G>C
n.663G>C
21g.43065634_43065635delinsAACA2579810164CBSc.512_513delinsTT (p.Glu171Val)
n.823_824delinsTT
c.563_564delinsTT (p.Glu188Val)
c.197_198delinsTT (p.Glu66Val)
n.883_884delinsTT
n.662_663delinsTT
21g.43065634_43065635delinsACCA2579810169CBSc.512_513delinsGT (p.Glu171Gly)
n.823_824delinsGT
c.563_564delinsGT (p.Glu188Gly)
c.197_198delinsGT (p.Glu66Gly)
n.883_884delinsGT
n.662_663delinsGT
21g.43065634_43065635delinsAGCA2579810170CBSc.512_513delinsCT (p.Glu171Ala)
n.823_824delinsCT
c.563_564delinsCT (p.Glu188Ala)
c.197_198delinsCT (p.Glu66Ala)
n.883_884delinsCT
n.662_663delinsCT
21g.43065634_43065636delinsAAACA2579810165CBSc.511_513delinsTTT (p.Glu171Phe)
n.822_824delinsTTT
c.562_564delinsTTT (p.Glu188Phe)
c.196_198delinsTTT (p.Glu66Phe)
n.882_884delinsTTT
n.661_663delinsTTT
21g.43065634_43065636delinsAAGCA2579810166CBSc.511_513delinsCTT (p.Glu171Leu)
n.822_824delinsCTT
c.562_564delinsCTT (p.Glu188Leu)
c.196_198delinsCTT (p.Glu66Leu)
n.882_884delinsCTT
n.661_663delinsCTT
21g.43065634_43065636delinsAATCA2579810168CBSc.511_513delinsATT (p.Glu171Ile)
n.822_824delinsATT
c.562_564delinsATT (p.Glu188Ile)
c.196_198delinsATT (p.Glu66Ile)
n.882_884delinsATT
n.661_663delinsATT
21g.43065634_43065636delinsATGCA2579810167CBSc.511_513delinsCAT (p.Glu171His)
n.822_824delinsCAT
c.562_564delinsCAT (p.Glu188His)
c.196_198delinsCAT (p.Glu66His)
n.882_884delinsCAT
n.661_663delinsCAT
21g.43065635T>ACA410601333CBSc.512A>T (p.Glu171Val)
n.823A>T
c.563A>T (p.Glu188Val)
c.197A>T (p.Glu66Val)
n.883A>T
n.662A>T
21g.43065635T>CCA410601334CBSc.512A>G (p.Glu171Gly)
n.823A>G
c.563A>G (p.Glu188Gly)
c.197A>G (p.Glu66Gly)
n.883A>G
n.662A>G
21g.43065635T>GCA410601335CBSc.512A>C (p.Glu171Ala)
n.823A>C
c.563A>C (p.Glu188Ala)
c.197A>C (p.Glu66Ala)
n.883A>C
n.662A>C
21g.43065635_43065636delinsATCA2579813742CBSc.511_512delinsAT (p.Glu171Met)
n.822_823delinsAT
c.562_563delinsAT (p.Glu188Met)
c.196_197delinsAT (p.Glu66Met)
n.882_883delinsAT
n.661_662delinsAT
21g.43065636C>ACA410601337CBSc.511G>T (p.Glu171Ter)
n.822G>T
c.562G>T (p.Glu188Ter)
c.196G>T (p.Glu66Ter)
n.882G>T
n.661G>T
 dbSNP
21g.43065636C=CA2391103861CBSc.511G= (p.Glu171=)
n.822G=
c.562G= (p.Glu188=)
c.196G= (p.Glu66=)
n.882G=
n.661G=
21g.43065636C>GCA410601338CBSc.511G>C (p.Glu171Gln)
n.822G>C
c.562G>C (p.Glu188Gln)
c.196G>C (p.Glu66Gln)
n.882G>C
n.661G>C
21g.43065636C>TCA410601340CBSc.511G>A (p.Glu171Lys)
n.822G>A
c.562G>A (p.Glu188Lys)
c.196G>A (p.Glu66Lys)
n.882G>A
n.661G>A
21g.43065637T>ACA2579805888CBSc.510A>T (p.Pro170=)
n.821A>T
c.561A>T (p.Pro187=)
c.195A>T (p.Pro65=)
n.881A>T
n.660A>T
21g.43065637T>CCA321096632CBSc.510A>G (p.Pro170=)
n.821A>G
c.561A>G (p.Pro187=)
c.195A>G (p.Pro65=)
n.881A>G
n.660A>G
 dbSNP
21g.43065637T>GCA2818000999CBSc.510A>C (p.Pro170=)
n.821A>C
c.561A>C (p.Pro187=)
c.195A>C (p.Pro65=)
n.881A>C
n.660A>C
21g.43065637T=CA2391103862CBSc.510A= (p.Pro170=)
n.821A=
c.561A= (p.Pro187=)
c.195A= (p.Pro65=)
n.881A=
n.660A=
21g.43065637_43065638delinsAACA2579805878CBSc.509_510delinsTT (p.Pro170Leu)
n.820_821delinsTT
c.560_561delinsTT (p.Pro187Leu)
c.194_195delinsTT (p.Pro65Leu)
n.880_881delinsTT
n.659_660delinsTT
21g.43065637_43065638delinsATCA2579805883CBSc.509_510delinsAT (p.Pro170His)
n.820_821delinsAT
c.560_561delinsAT (p.Pro187His)
c.194_195delinsAT (p.Pro65His)
n.880_881delinsAT
n.659_660delinsAT
21g.43065637_43065638delinsCACA2579805880CBSc.509_510delinsTG (p.Pro170Leu)
n.820_821delinsTG
c.560_561delinsTG (p.Pro187Leu)
c.194_195delinsTG (p.Pro65Leu)
n.880_881delinsTG
n.659_660delinsTG
21g.43065637_43065639delinsAAACA2579805877CBSc.508_510delinsTTT (p.Pro170Phe)
n.819_821delinsTTT
c.559_561delinsTTT (p.Pro187Phe)
c.193_195delinsTTT (p.Pro65Phe)
n.879_881delinsTTT
n.658_660delinsTTT
21g.43065637_43065639delinsAACCA2579805872CBSc.508_510delinsGTT (p.Pro170Val)
n.819_821delinsGTT
c.559_561delinsGTT (p.Pro187Val)
c.193_195delinsGTT (p.Pro65Val)
n.879_881delinsGTT
n.658_660delinsGTT
21g.43065637_43065639delinsAATCA2579805881CBSc.508_510delinsATT (p.Pro170Ile)
n.819_821delinsATT
c.559_561delinsATT (p.Pro187Ile)
c.193_195delinsATT (p.Pro65Ile)
n.879_881delinsATT
n.658_660delinsATT
21g.43065637_43065639delinsACACA2579805885CBSc.508_510delinsTGT (p.Pro170Cys)
n.819_821delinsTGT
c.559_561delinsTGT (p.Pro187Cys)
c.193_195delinsTGT (p.Pro65Cys)
n.879_881delinsTGT
n.658_660delinsTGT
21g.43065637_43065639delinsAGACA2579805874CBSc.508_510delinsTCT (p.Pro170Ser)
n.819_821delinsTCT
c.559_561delinsTCT (p.Pro187Ser)
c.193_195delinsTCT (p.Pro65Ser)
n.879_881delinsTCT
n.658_660delinsTCT
21g.43065637_43065639delinsAGCCA2579805886CBSc.508_510delinsGCT (p.Pro170Ala)
n.819_821delinsGCT
c.559_561delinsGCT (p.Pro187Ala)
c.193_195delinsGCT (p.Pro65Ala)
n.879_881delinsGCT
n.658_660delinsGCT
21g.43065637_43065639delinsATCCA2579805887CBSc.508_510delinsGAT (p.Pro170Asp)
n.819_821delinsGAT
c.559_561delinsGAT (p.Pro187Asp)
c.193_195delinsGAT (p.Pro65Asp)
n.879_881delinsGAT
n.658_660delinsGAT
21g.43065637_43065639delinsCATCA2579805879CBSc.508_510delinsATG (p.Pro170Met)
n.819_821delinsATG
c.559_561delinsATG (p.Pro187Met)
c.193_195delinsATG (p.Pro65Met)
n.879_881delinsATG
n.658_660delinsATG
21g.43065637_43065639delinsCCCCA2579805884CBSc.508_510delinsGGG (p.Pro170Gly)
n.819_821delinsGGG
c.559_561delinsGGG (p.Pro187Gly)
c.193_195delinsGGG (p.Pro65Gly)
n.879_881delinsGGG
n.658_660delinsGGG
21g.43065637_43065639delinsCTTCA2579813517CBSc.508_510delinsAAG (p.Pro170Lys)
n.819_821delinsAAG
c.559_561delinsAAG (p.Pro187Lys)
c.193_195delinsAAG (p.Pro65Lys)
n.879_881delinsAAG
n.658_660delinsAAG
21g.43065637_43065639delinsGAACA2579805876CBSc.508_510delinsTTC (p.Pro170Phe)
n.819_821delinsTTC
c.559_561delinsTTC (p.Pro187Phe)
c.193_195delinsTTC (p.Pro65Phe)
n.879_881delinsTTC
n.658_660delinsTTC
21g.43065637_43065639delinsGGACA2579805875CBSc.508_510delinsTCC (p.Pro170Ser)
n.819_821delinsTCC
c.559_561delinsTCC (p.Pro187Ser)
c.193_195delinsTCC (p.Pro65Ser)
n.879_881delinsTCC
n.658_660delinsTCC
21g.43065638G>ACA410601342CBSc.509C>T (p.Pro170Leu)
n.820C>T
c.560C>T (p.Pro187Leu)
c.194C>T (p.Pro65Leu)
n.880C>T
n.659C>T
21g.43065638G>CCA410601344CBSc.509C>G (p.Pro170Arg)
n.820C>G
c.560C>G (p.Pro187Arg)
c.194C>G (p.Pro65Arg)
n.880C>G
n.659C>G
21g.43065638G>TCA410601345CBSc.509C>A (p.Pro170Gln)
n.820C>A
c.560C>A (p.Pro187Gln)
c.194C>A (p.Pro65Gln)
n.880C>A
n.659C>A
21g.43065638_43065639delinsCCCA2579805882CBSc.508_509delinsGG (p.Pro170Gly)
n.819_820delinsGG
c.559_560delinsGG (p.Pro187Gly)
c.193_194delinsGG (p.Pro65Gly)
n.879_880delinsGG
n.658_659delinsGG
21g.43065638_43065639delinsTACA2579805873CBSc.508_509delinsTA (p.Pro170Ter)
n.819_820delinsTA
c.559_560delinsTA (p.Pro187Ter)
c.193_194delinsTA (p.Pro65Ter)
n.879_880delinsTA
n.658_659delinsTA
21g.43065639G>ACA410601348CBSc.508C>T (p.Pro170Ser)
n.819C>T
c.559C>T (p.Pro187Ser)
c.193C>T (p.Pro65Ser)
n.879C>T
n.658C>T
21g.43065639G>CCA410601350CBSc.508C>G (p.Pro170Ala)
n.819C>G
c.559C>G (p.Pro187Ala)
c.193C>G (p.Pro65Ala)
n.879C>G
n.658C>G
21g.43065639G>TCA410601347CBSc.508C>A (p.Pro170Thr)
n.819C>A
c.559C>A (p.Pro187Thr)
c.193C>A (p.Pro65Thr)
n.879C>A
n.658C>A
21g.43065640C>ACA410601352CBSc.507G>T (p.Met169Ile)
n.818G>T
c.558G>T (p.Met186Ile)
c.192G>T (p.Met64Ile)
n.878G>T
n.657G>T
21g.43065640C>GCA410601356CBSc.507G>C (p.Met169Ile)
n.818G>C
c.558G>C (p.Met186Ile)
c.192G>C (p.Met64Ile)
n.878G>C
n.657G>C
21g.43065640C>TCA410601354CBSc.507G>A (p.Met169Ile)
n.818G>A
c.558G>A (p.Met186Ile)
c.192G>A (p.Met64Ile)
n.878G>A
n.657G>A
21g.43065640_43065642delinsAAACA2579805795CBSc.505_507delinsTTT (p.Met169Phe)
n.816_818delinsTTT
c.556_558delinsTTT (p.Met186Phe)
c.190_192delinsTTT (p.Met64Phe)
n.876_878delinsTTT
n.655_657delinsTTT
21g.43065640_43065642delinsAACCA2579813543CBSc.505_507delinsGTT (p.Met169Val)
n.816_818delinsGTT
c.556_558delinsGTT (p.Met186Val)
c.190_192delinsGTT (p.Met64Val)
n.876_878delinsGTT
n.655_657delinsGTT
21g.43065640_43065642delinsAAGCA2579805798CBSc.505_507delinsCTT (p.Met169Leu)
n.816_818delinsCTT
c.556_558delinsCTT (p.Met186Leu)
c.190_192delinsCTT (p.Met64Leu)
n.876_878delinsCTT
n.655_657delinsCTT
21g.43065640_43065642delinsACACA2579805801CBSc.505_507delinsTGT (p.Met169Cys)
n.816_818delinsTGT
c.556_558delinsTGT (p.Met186Cys)
c.190_192delinsTGT (p.Met64Cys)
n.876_878delinsTGT
n.655_657delinsTGT
21g.43065640_43065642delinsACCCA2579805799CBSc.505_507delinsGGT (p.Met169Gly)
n.816_818delinsGGT
c.556_558delinsGGT (p.Met186Gly)
c.190_192delinsGGT (p.Met64Gly)
n.876_878delinsGGT
n.655_657delinsGGT
21g.43065640_43065642delinsAGACA2579805793CBSc.505_507delinsTCT (p.Met169Ser)
n.816_818delinsTCT
c.556_558delinsTCT (p.Met186Ser)
c.190_192delinsTCT (p.Met64Ser)
n.876_878delinsTCT
n.655_657delinsTCT
21g.43065640_43065642delinsTAACA2579805796CBSc.505_507delinsTTA (p.Met169Leu)
n.816_818delinsTTA
c.556_558delinsTTA (p.Met186Leu)
c.190_192delinsTTA (p.Met64Leu)
n.876_878delinsTTA
n.655_657delinsTTA
21g.43065640_43065642delinsTAGCA2579805797CBSc.505_507delinsCTA (p.Met169Leu)
n.816_818delinsCTA
c.556_558delinsCTA (p.Met186Leu)
c.190_192delinsCTA (p.Met64Leu)
n.876_878delinsCTA
n.655_657delinsCTA
21g.43065641A>CCA410601358CBSc.506T>G (p.Met169Arg)
n.817T>G
c.557T>G (p.Met186Arg)
c.191T>G (p.Met64Arg)
n.877T>G
n.656T>G
21g.43065641A>GCA410601359CBSc.506T>C (p.Met169Thr)
n.817T>C
c.557T>C (p.Met186Thr)
c.191T>C (p.Met64Thr)
n.877T>C
n.656T>C
21g.43065641A>TCA410601360CBSc.506T>A (p.Met169Lys)
n.817T>A
c.557T>A (p.Met186Lys)
c.191T>A (p.Met64Lys)
n.877T>A
n.656T>A
21g.43065641_43065642delinsCACA2579805791CBSc.505_506delinsTG (p.Met169Trp)
n.816_817delinsTG
c.556_557delinsTG (p.Met186Trp)
c.190_191delinsTG (p.Met64Trp)
n.876_877delinsTG
n.655_656delinsTG
21g.43065641_43065642delinsGGCA2579805794CBSc.505_506delinsCC (p.Met169Pro)
n.816_817delinsCC
c.556_557delinsCC (p.Met186Pro)
c.190_191delinsCC (p.Met64Pro)
n.876_877delinsCC
n.655_656delinsCC
21g.43065641_43065642delinsTACA2579805792CBSc.505_506delinsTA (p.Met169Ter)
n.816_817delinsTA
c.556_557delinsTA (p.Met186Ter)
c.190_191delinsTA (p.Met64Ter)
n.876_877delinsTA
n.655_656delinsTA
21g.43065641_43065642delinsTGCA2579805800CBSc.505_506delinsCA (p.Met169Gln)
n.816_817delinsCA
c.556_557delinsCA (p.Met186Gln)
c.190_191delinsCA (p.Met64Gln)
n.876_877delinsCA
n.655_656delinsCA
21g.43065642T>ACA410601362CBSc.505A>T (p.Met169Leu)
n.816A>T
c.556A>T (p.Met186Leu)
c.190A>T (p.Met64Leu)
n.876A>T
n.655A>T
 ClinVar dbSNP gnomAD v4
21g.43065642T>CCA410601364CBSc.505A>G (p.Met169Val)
n.816A>G
c.556A>G (p.Met186Val)
c.190A>G (p.Met64Val)
n.876A>G
n.655A>G
21g.43065642T>GCA410601365CBSc.505A>C (p.Met169Leu)
n.816A>C
c.556A>C (p.Met186Leu)
c.190A>C (p.Met64Leu)
n.876A>C
n.655A>C
21g.43065642T=CA2391103863CBSc.505A= (p.Met169=)
n.816A=
c.556A= (p.Met186=)
c.190A= (p.Met64=)
n.876A=
n.655A=
21g.43065643C=CA2391103864CBSc.504G= (p.Val168=)
n.815G=
c.555G= (p.Val185=)
c.189G= (p.Val63=)
n.875G=
n.654G=
21g.43065643C>TCA2391103865CBSc.504G>A (p.Val168=)
n.815G>A
c.555G>A (p.Val185=)
c.189G>A (p.Val63=)
n.875G>A
n.654G>A
 ClinVar dbSNP
21g.43065643_43065645delinsAAGCA2579803312CBSc.502_504delinsCTT (p.Val168Leu)
n.813_815delinsCTT
c.553_555delinsCTT (p.Val185Leu)
c.187_189delinsCTT (p.Val63Leu)
n.873_875delinsCTT
n.652_654delinsCTT
21g.43065643_43065645delinsAATCA2579813369CBSc.502_504delinsATT (p.Val168Ile)
n.813_815delinsATT
c.553_555delinsATT (p.Val185Ile)
c.187_189delinsATT (p.Val63Ile)
n.873_875delinsATT
n.652_654delinsATT
21g.43065643_43065645delinsAGTCA2579803310CBSc.502_504delinsACT (p.Val168Thr)
n.813_815delinsACT
c.553_555delinsACT (p.Val185Thr)
c.187_189delinsACT (p.Val63Thr)
n.873_875delinsACT
n.652_654delinsACT
21g.43065643_43065645delinsGATCA2579803313CBSc.502_504delinsATC (p.Val168Ile)
n.813_815delinsATC
c.553_555delinsATC (p.Val185Ile)
c.187_189delinsATC (p.Val63Ile)
n.873_875delinsATC
n.652_654delinsATC
21g.43065643_43065645delinsTAACA2579803311CBSc.502_504delinsTTA (p.Val168Leu)
n.813_815delinsTTA
c.553_555delinsTTA (p.Val185Leu)
c.187_189delinsTTA (p.Val63Leu)
n.873_875delinsTTA
n.652_654delinsTTA
21g.43065643_43065645delinsTATCA2579813368CBSc.502_504delinsATA (p.Val168Ile)
n.813_815delinsATA
c.553_555delinsATA (p.Val185Ile)
c.187_189delinsATA (p.Val63Ile)
n.873_875delinsATA
n.652_654delinsATA
21g.43065644_43065645delCA2580099036CBSc.503_504del (p.Val168AspfsTer19)
c.503_504del (p.Val168AspfsTer?)
n.814_815del
c.554_555del (p.Val185AspfsTer19)
c.188_189del (p.Val63AspfsTer19)
n.874_875del
n.653_654del
 ClinVar
21g.43065644A>CCA410601367CBSc.503T>G (p.Val168Gly)
n.814T>G
c.554T>G (p.Val185Gly)
c.188T>G (p.Val63Gly)
n.874T>G
n.653T>G
21g.43065644A>GCA410601368CBSc.503T>C (p.Val168Ala)
n.814T>C
c.554T>C (p.Val185Ala)
c.188T>C (p.Val63Ala)
n.874T>C
n.653T>C
21g.43065644A>TCA410601370CBSc.503T>A (p.Val168Glu)
n.814T>A
c.554T>A (p.Val185Glu)
c.188T>A (p.Val63Glu)
n.874T>A
n.653T>A
21g.43065644_43065645delinsCACA2579803308CBSc.502_503delinsTG (p.Val168Trp)
n.813_814delinsTG
c.553_554delinsTG (p.Val185Trp)
c.187_188delinsTG (p.Val63Trp)
n.873_874delinsTG
n.652_653delinsTG
21g.43065645C>ACA410601371CBSc.502G>T (p.Val168Leu)
n.813G>T
c.553G>T (p.Val185Leu)
c.187G>T (p.Val63Leu)
n.873G>T
n.652G>T
 dbSNP
21g.43065645C=CA2391103866CBSc.502G= (p.Val168=)
n.813G=
c.553G= (p.Val185=)
c.187G= (p.Val63=)
n.873G=
n.652G=
21g.43065645C>GCA410601372CBSc.502G>C (p.Val168Leu)
n.813G>C
c.553G>C (p.Val185Leu)
c.187G>C (p.Val63Leu)
n.873G>C
n.652G>C
21g.43065645C>TCA113895CBSc.502G>A (p.Val168Met)
n.813G>A
c.553G>A (p.Val185Met)
c.187G>A (p.Val63Met)
n.873G>A
n.652G>A
 ClinVar dbSNP gnomAD v4
21g.43065646G>ACA16608557CBSc.501C>T (p.Ile167=)
n.812C>T
c.552C>T (p.Ile184=)
c.186C>T (p.Ile62=)
n.872C>T
n.651C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43065646G>CCA410601373CBSc.501C>G (p.Ile167Met)
n.812C>G
c.552C>G (p.Ile184Met)
c.186C>G (p.Ile62Met)
n.872C>G
n.651C>G
 dbSNP
21g.43065646G=CA2391103867CBSc.501C= (p.Ile167=)
n.812C=
c.552C= (p.Ile184=)
c.186C= (p.Ile62=)
n.872C=
n.651C=
21g.43065646_43065647delinsAGCA2579808518CBSc.500_501delinsCT (p.Ile167Thr)
n.811_812delinsCT
c.551_552delinsCT (p.Ile184Thr)
c.185_186delinsCT (p.Ile62Thr)
n.871_872delinsCT
n.650_651delinsCT
21g.43065646_43065648delinsAAACA2579808520CBSc.499_501delinsTTT (p.Ile167Phe)
n.810_812delinsTTT
c.550_552delinsTTT (p.Ile184Phe)
c.184_186delinsTTT (p.Ile62Phe)
n.870_872delinsTTT
n.649_651delinsTTT
21g.43065646_43065648delinsAACCA2579813661CBSc.499_501delinsGTT (p.Ile167Val)
n.810_812delinsGTT
c.550_552delinsGTT (p.Ile184Val)
c.184_186delinsGTT (p.Ile62Val)
n.870_872delinsGTT
n.649_651delinsGTT
21g.43065646_43065648delinsAAGCA2579808522CBSc.499_501delinsCTT (p.Ile167Leu)
n.810_812delinsCTT
c.550_552delinsCTT (p.Ile184Leu)
c.184_186delinsCTT (p.Ile62Leu)
n.870_872delinsCTT
n.649_651delinsCTT
21g.43065646_43065648delinsATCCA2579808521CBSc.499_501delinsGAT (p.Ile167Asp)
n.810_812delinsGAT
c.550_552delinsGAT (p.Ile184Asp)
c.184_186delinsGAT (p.Ile62Asp)
n.870_872delinsGAT
n.649_651delinsGAT
21g.43065646_43065648delinsCACCA2579808517CBSc.499_501delinsGTG (p.Ile167Val)
n.810_812delinsGTG
c.550_552delinsGTG (p.Ile184Val)
c.184_186delinsGTG (p.Ile62Val)
n.870_872delinsGTG
n.649_651delinsGTG
21g.43065647A>CCA410601375CBSc.500T>G (p.Ile167Ser)
n.811T>G
c.551T>G (p.Ile184Ser)
c.185T>G (p.Ile62Ser)
n.871T>G
n.650T>G
21g.43065647A>GCA410601377CBSc.500T>C (p.Ile167Thr)
n.811T>C
c.551T>C (p.Ile184Thr)
c.185T>C (p.Ile62Thr)
n.871T>C
n.650T>C
21g.43065647A>TCA410601378CBSc.500T>A (p.Ile167Asn)
n.811T>A
c.551T>A (p.Ile184Asn)
c.185T>A (p.Ile62Asn)
n.871T>A
n.650T>A
21g.43065647_43065648delinsGACA2579808519CBSc.499_500delinsTC (p.Ile167Ser)
n.810_811delinsTC
c.550_551delinsTC (p.Ile184Ser)
c.184_185delinsTC (p.Ile62Ser)
n.870_871delinsTC
n.649_650delinsTC
21g.43065648T>ACA410601380CBSc.499A>T (p.Ile167Phe)
n.810A>T
c.550A>T (p.Ile184Phe)
c.184A>T (p.Ile62Phe)
n.870A>T
n.649A>T
21g.43065648T>CCA410601382CBSc.499A>G (p.Ile167Val)
n.810A>G
c.550A>G (p.Ile184Val)
c.184A>G (p.Ile62Val)
n.870A>G
n.649A>G
21g.43065648T>GCA410601384CBSc.499A>C (p.Ile167Leu)
n.810A>C
c.550A>C (p.Ile184Leu)
c.184A>C (p.Ile62Leu)
n.870A>C
n.649A>C
21g.43065649G>CCA410601385CBSc.498C>G (p.Ile166Met)
n.809C>G
c.549C>G (p.Ile183Met)
c.183C>G (p.Ile61Met)
n.869C>G
n.648C>G
21g.43065649_43065650delinsAGCA2579808526CBSc.497_498delinsCT (p.Ile166Thr)
n.808_809delinsCT
c.548_549delinsCT (p.Ile183Thr)
c.182_183delinsCT (p.Ile61Thr)
n.868_869delinsCT
n.647_648delinsCT
21g.43065649_43065650delinsATCA2579808538CBSc.497_498delinsAT (p.Ile166Asn)
n.808_809delinsAT
c.548_549delinsAT (p.Ile183Asn)
c.182_183delinsAT (p.Ile61Asn)
n.868_869delinsAT
n.647_648delinsAT
21g.43065649_43065650delinsCGCA2579808527CBSc.497_498delinsCG (p.Ile166Thr)
n.808_809delinsCG
c.548_549delinsCG (p.Ile183Thr)
c.182_183delinsCG (p.Ile61Thr)
n.868_869delinsCG
n.647_648delinsCG
21g.43065649_43065650delinsTCCA2579808542CBSc.497_498delinsGA (p.Ile166Arg)
n.808_809delinsGA
c.548_549delinsGA (p.Ile183Arg)
c.182_183delinsGA (p.Ile61Arg)
n.868_869delinsGA
n.647_648delinsGA
21g.43065649_43065651delinsAAACA2579808531CBSc.496_498delinsTTT (p.Ile166Phe)
n.807_809delinsTTT
c.547_549delinsTTT (p.Ile183Phe)
c.181_183delinsTTT (p.Ile61Phe)
n.867_869delinsTTT
n.646_648delinsTTT
21g.43065649_43065651delinsAACCA2579808523CBSc.496_498delinsGTT (p.Ile166Val)
n.807_809delinsGTT
c.547_549delinsGTT (p.Ile183Val)
c.181_183delinsGTT (p.Ile61Val)
n.867_869delinsGTT
n.646_648delinsGTT
21g.43065649_43065651delinsAAGCA2579808532CBSc.496_498delinsCTT (p.Ile166Leu)
n.807_809delinsCTT
c.547_549delinsCTT (p.Ile183Leu)
c.181_183delinsCTT (p.Ile61Leu)
n.867_869delinsCTT
n.646_648delinsCTT
21g.43065649_43065651delinsACACA2579808537CBSc.496_498delinsTGT (p.Ile166Cys)
n.807_809delinsTGT
c.547_549delinsTGT (p.Ile183Cys)
c.181_183delinsTGT (p.Ile61Cys)
n.867_869delinsTGT
n.646_648delinsTGT
21g.43065649_43065651delinsACCCA2579808535CBSc.496_498delinsGGT (p.Ile166Gly)
n.807_809delinsGGT
c.547_549delinsGGT (p.Ile183Gly)
c.181_183delinsGGT (p.Ile61Gly)
n.867_869delinsGGT
n.646_648delinsGGT
21g.43065649_43065651delinsACGCA2579808539CBSc.496_498delinsCGT (p.Ile166Arg)
n.807_809delinsCGT
c.547_549delinsCGT (p.Ile183Arg)
c.181_183delinsCGT (p.Ile61Arg)
n.867_869delinsCGT
n.646_648delinsCGT
21g.43065649_43065651delinsAGACA2579808530CBSc.496_498delinsTCT (p.Ile166Ser)
n.807_809delinsTCT
c.547_549delinsTCT (p.Ile183Ser)
c.181_183delinsTCT (p.Ile61Ser)
n.867_869delinsTCT
n.646_648delinsTCT
21g.43065649_43065651delinsAGCCA2579808540CBSc.496_498delinsGCT (p.Ile166Ala)
n.807_809delinsGCT
c.547_549delinsGCT (p.Ile183Ala)
c.181_183delinsGCT (p.Ile61Ala)
n.867_869delinsGCT
n.646_648delinsGCT
21g.43065649_43065651delinsATACA2579808524CBSc.496_498delinsTAT (p.Ile166Tyr)
n.807_809delinsTAT
c.547_549delinsTAT (p.Ile183Tyr)
c.181_183delinsTAT (p.Ile61Tyr)
n.867_869delinsTAT
n.646_648delinsTAT
21g.43065649_43065651delinsCAACA2579808533CBSc.496_498delinsTTG (p.Ile166Leu)
n.807_809delinsTTG
c.547_549delinsTTG (p.Ile183Leu)
c.181_183delinsTTG (p.Ile61Leu)
n.867_869delinsTTG
n.646_648delinsTTG
21g.43065649_43065651delinsCACCA2579813662CBSc.496_498delinsGTG (p.Ile166Val)
n.807_809delinsGTG
c.547_549delinsGTG (p.Ile183Val)
c.181_183delinsGTG (p.Ile61Val)
n.867_869delinsGTG
n.646_648delinsGTG
21g.43065649_43065651delinsCAGCA2579808534CBSc.496_498delinsCTG (p.Ile166Leu)
n.807_809delinsCTG
c.547_549delinsCTG (p.Ile183Leu)
c.181_183delinsCTG (p.Ile61Leu)
n.867_869delinsCTG
n.646_648delinsCTG
21g.43065649_43065651delinsCCACA2579808525CBSc.496_498delinsTGG (p.Ile166Trp)
n.807_809delinsTGG
c.547_549delinsTGG (p.Ile183Trp)
c.181_183delinsTGG (p.Ile61Trp)
n.867_869delinsTGG
n.646_648delinsTGG
21g.43065649_43065651delinsCCCCA2579808536CBSc.496_498delinsGGG (p.Ile166Gly)
n.807_809delinsGGG
c.547_549delinsGGG (p.Ile183Gly)
c.181_183delinsGGG (p.Ile61Gly)
n.867_869delinsGGG
n.646_648delinsGGG
21g.43065649_43065651delinsCGACA2579808529CBSc.496_498delinsTCG (p.Ile166Ser)
n.807_809delinsTCG
c.547_549delinsTCG (p.Ile183Ser)
c.181_183delinsTCG (p.Ile61Ser)
n.867_869delinsTCG
n.646_648delinsTCG
21g.43065649_43065651delinsCTACA2579808528CBSc.496_498delinsTAG (p.Ile166Ter)
n.807_809delinsTAG
c.547_549delinsTAG (p.Ile183Ter)
c.181_183delinsTAG (p.Ile61Ter)
n.867_869delinsTAG
n.646_648delinsTAG
21g.43065650A>CCA410601387CBSc.497T>G (p.Ile166Ser)
n.808T>G
c.548T>G (p.Ile183Ser)
c.182T>G (p.Ile61Ser)
n.868T>G
n.647T>G
21g.43065650A>GCA410601389CBSc.497T>C (p.Ile166Thr)
n.808T>C
c.548T>C (p.Ile183Thr)
c.182T>C (p.Ile61Thr)
n.868T>C
n.647T>C
21g.43065650A>TCA410601390CBSc.497T>A (p.Ile166Asn)
n.808T>A
c.548T>A (p.Ile183Asn)
c.182T>A (p.Ile61Asn)
n.868T>A
n.647T>A
21g.43065651T>ACA410601392CBSc.496A>T (p.Ile166Phe)
n.807A>T
c.547A>T (p.Ile183Phe)
c.181A>T (p.Ile61Phe)
n.867A>T
n.646A>T
21g.43065651T>CCA410601393CBSc.496A>G (p.Ile166Val)
n.807A>G
c.547A>G (p.Ile183Val)
c.181A>G (p.Ile61Val)
n.867A>G
n.646A>G
21g.43065651T>GCA410601395CBSc.496A>C (p.Ile166Leu)
n.807A>C
c.547A>C (p.Ile183Leu)
c.181A>C (p.Ile61Leu)
n.867A>C
n.646A>C
 ClinVar dbSNP gnomAD v4
21g.43065651T=CA2391103868CBSc.496A= (p.Ile166=)
n.807A=
c.547A= (p.Ile183=)
c.181A= (p.Ile61=)
n.867A=
n.646A=
21g.43065652G>ACA2579810984CBSc.495C>T (p.Cys165=)
n.806C>T
c.546C>T (p.Cys182=)
c.180C>T (p.Cys60=)
n.866C>T
n.645C>T
 ClinVar
21g.43065652G>CCA410601399CBSc.495C>G (p.Cys165Trp)
n.806C>G
c.546C>G (p.Cys182Trp)
c.180C>G (p.Cys60Trp)
n.866C>G
n.645C>G
21g.43065652G>TCA410601397CBSc.495C>A (p.Cys165Ter)
n.806C>A
c.546C>A (p.Cys182Ter)
c.180C>A (p.Cys60Ter)
n.866C>A
n.645C>A
21g.43065652_43065653delinsAACA2579810977CBSc.494_495delinsTT (p.Cys165Phe)
n.805_806delinsTT
c.545_546delinsTT (p.Cys182Phe)
c.179_180delinsTT (p.Cys60Phe)
n.865_866delinsTT
n.644_645delinsTT
21g.43065652_43065653delinsAGCA2579810975CBSc.494_495delinsCT (p.Cys165Ser)
n.805_806delinsCT
c.545_546delinsCT (p.Cys182Ser)
c.179_180delinsCT (p.Cys60Ser)
n.865_866delinsCT
n.644_645delinsCT
21g.43065652_43065653delinsATCA2579810973CBSc.494_495delinsAT (p.Cys165Tyr)
n.805_806delinsAT
c.545_546delinsAT (p.Cys182Tyr)
c.179_180delinsAT (p.Cys60Tyr)
n.865_866delinsAT
n.644_645delinsAT
21g.43065652_43065653delinsCACA2579810980CBSc.494_495delinsTG (p.Cys165Leu)
n.805_806delinsTG
c.545_546delinsTG (p.Cys182Leu)
c.179_180delinsTG (p.Cys60Leu)
n.865_866delinsTG
n.644_645delinsTG
21g.43065652_43065653delinsCTCA2579810972CBSc.494_495delinsAG (p.Cys165Ter)
n.805_806delinsAG
c.545_546delinsAG (p.Cys182Ter)
c.179_180delinsAG (p.Cys60Ter)
n.865_866delinsAG
n.644_645delinsAG
21g.43065652_43065653delinsTACA2579810979CBSc.494_495delinsTA (p.Cys165Leu)
n.805_806delinsTA
c.545_546delinsTA (p.Cys182Leu)
c.179_180delinsTA (p.Cys60Leu)
n.865_866delinsTA
n.644_645delinsTA
21g.43065652_43065654delinsAATCA2579810981CBSc.493_495delinsATT (p.Cys165Ile)
n.804_806delinsATT
c.544_546delinsATT (p.Cys182Ile)
c.178_180delinsATT (p.Cys60Ile)
n.864_866delinsATT
n.643_645delinsATT
21g.43065652_43065654delinsACTCA2579810974CBSc.493_495delinsAGT (p.Cys165Ser)
n.804_806delinsAGT
c.544_546delinsAGT (p.Cys182Ser)
c.178_180delinsAGT (p.Cys60Ser)
n.864_866delinsAGT
n.643_645delinsAGT
21g.43065652_43065654delinsAGTCA2579810971CBSc.493_495delinsACT (p.Cys165Thr)
n.804_806delinsACT
c.544_546delinsACT (p.Cys182Thr)
c.178_180delinsACT (p.Cys60Thr)
n.864_866delinsACT
n.643_645delinsACT
21g.43065652_43065654delinsCATCA2579810978CBSc.493_495delinsATG (p.Cys165Met)
n.804_806delinsATG
c.544_546delinsATG (p.Cys182Met)
c.178_180delinsATG (p.Cys60Met)
n.864_866delinsATG
n.643_645delinsATG
21g.43065652_43065654delinsCCCCA2579810982CBSc.493_495delinsGGG (p.Cys165Gly)
n.804_806delinsGGG
c.544_546delinsGGG (p.Cys182Gly)
c.178_180delinsGGG (p.Cys60Gly)
n.864_866delinsGGG
n.643_645delinsGGG
21g.43065652_43065654delinsCCGCA2579810985CBSc.493_495delinsCGG (p.Cys165Arg)
n.804_806delinsCGG
c.544_546delinsCGG (p.Cys182Arg)
c.178_180delinsCGG (p.Cys60Arg)
n.864_866delinsCGG
n.643_645delinsCGG
21g.43065652_43065654delinsCGCCA2579810983CBSc.493_495delinsGCG (p.Cys165Ala)
n.804_806delinsGCG
c.544_546delinsGCG (p.Cys182Ala)
c.178_180delinsGCG (p.Cys60Ala)
n.864_866delinsGCG
n.643_645delinsGCG
21g.43065652_43065654delinsCGGCA2579810976CBSc.493_495delinsCCG (p.Cys165Pro)
n.804_806delinsCCG
c.544_546delinsCCG (p.Cys182Pro)
c.178_180delinsCCG (p.Cys60Pro)
n.864_866delinsCCG
n.643_645delinsCCG
21g.43065652_43065669dupCA2654728356CBSc.478_495dup (p.Cys165_Ile166insValArgGlyTyrArgCys)
n.789_806dup
c.529_546dup (p.Cys182_Ile183insValArgGlyTyrArgCys)
c.163_180dup (p.Cys60_Ile61insValArgGlyTyrArgCys)
n.849_866dup
n.628_645dup
 gnomAD v4
21g.43065653C>ACA410601400CBSc.494G>T (p.Cys165Phe)
n.805G>T
c.545G>T (p.Cys182Phe)
c.179G>T (p.Cys60Phe)
n.865G>T
n.644G>T
21g.43065653C=CA2391103869CBSc.494G= (p.Cys165=)
n.805G=
c.545G= (p.Cys182=)
c.179G= (p.Cys60=)
n.865G=
n.644G=
21g.43065653C>GCA410601401CBSc.494G>C (p.Cys165Ser)
n.805G>C
c.545G>C (p.Cys182Ser)
c.179G>C (p.Cys60Ser)
n.865G>C
n.644G>C
21g.43065653C>TCA410601403CBSc.494G>A (p.Cys165Tyr)
n.805G>A
c.545G>A (p.Cys182Tyr)
c.179G>A (p.Cys60Tyr)
n.865G>A
n.644G>A
 ClinVar dbSNP gnomAD v4
21g.43065654A=CA2391103870CBSc.493T= (p.Cys165=)
n.804T=
c.544T= (p.Cys182=)
c.178T= (p.Cys60=)
n.864T=
n.643T=
21g.43065654A>CCA410601405CBSc.493T>G (p.Cys165Gly)
n.804T>G
c.544T>G (p.Cys182Gly)
c.178T>G (p.Cys60Gly)
n.864T>G
n.643T>G
 ClinVar dbSNP
21g.43065654A>GCA410601406CBSc.493T>C (p.Cys165Arg)
n.804T>C
c.544T>C (p.Cys182Arg)
c.178T>C (p.Cys60Arg)
n.864T>C
n.643T>C
21g.43065654A>TCA410601408CBSc.493T>A (p.Cys165Ser)
n.804T>A
c.544T>A (p.Cys182Ser)
c.178T>A (p.Cys60Ser)
n.864T>A
n.643T>A
 dbSNP
21g.43065655G>ACA2579812154CBSc.492C>T (p.Arg164=)
n.803C>T
c.543C>T (p.Arg181=)
c.177C>T (p.Arg59=)
n.863C>T
n.642C>T
21g.43065655G>CCA749580062CBSc.492C>G (p.Arg164=)
n.803C>G
c.543C>G (p.Arg181=)
c.177C>G (p.Arg59=)
n.863C>G
n.642C>G
 ClinVar dbSNP gnomAD v4
21g.43065655G=CA2391103871CBSc.492C= (p.Arg164=)
n.803C=
c.543C= (p.Arg181=)
c.177C= (p.Arg59=)
n.863C=
n.642C=
21g.43065655_43065656delinsATCA2579812147CBSc.491_492delinsAT (p.Arg164His)
n.802_803delinsAT
c.542_543delinsAT (p.Arg181His)
c.176_177delinsAT (p.Arg59His)
n.862_863delinsAT
n.641_642delinsAT
21g.43065655_43065656delinsCACA2579812142CBSc.491_492delinsTG (p.Arg164Leu)
n.802_803delinsTG
c.542_543delinsTG (p.Arg181Leu)
c.176_177delinsTG (p.Arg59Leu)
n.862_863delinsTG
n.641_642delinsTG
21g.43065655_43065656delinsCTCA2579812149CBSc.491_492delinsAG (p.Arg164Gln)
n.802_803delinsAG
c.542_543delinsAG (p.Arg181Gln)
c.176_177delinsAG (p.Arg59Gln)
n.862_863delinsAG
n.641_642delinsAG
21g.43065655_43065657delinsAAACA2579812802CBSc.490_492delinsTTT (p.Arg164Phe)
n.801_803delinsTTT
c.541_543delinsTTT (p.Arg181Phe)
c.175_177delinsTTT (p.Arg59Phe)
n.861_863delinsTTT
n.640_642delinsTTT
21g.43065655_43065657delinsAACCA2579812795CBSc.490_492delinsGTT (p.Arg164Val)
n.801_803delinsGTT
c.541_543delinsGTT (p.Arg181Val)
c.175_177delinsGTT (p.Arg59Val)
n.861_863delinsGTT
n.640_642delinsGTT
21g.43065655_43065657delinsAATCA2579812146CBSc.490_492delinsATT (p.Arg164Ile)
n.801_803delinsATT
c.541_543delinsATT (p.Arg181Ile)
c.175_177delinsATT (p.Arg59Ile)
n.861_863delinsATT
n.640_642delinsATT
21g.43065655_43065657delinsACACA2579812150CBSc.490_492delinsTGT (p.Arg164Cys)
n.801_803delinsTGT
c.541_543delinsTGT (p.Arg181Cys)
c.175_177delinsTGT (p.Arg59Cys)
n.861_863delinsTGT
n.640_642delinsTGT
21g.43065655_43065657delinsACTCA2579812800CBSc.490_492delinsAGT (p.Arg164Ser)
n.801_803delinsAGT
c.541_543delinsAGT (p.Arg181Ser)
c.175_177delinsAGT (p.Arg59Ser)
n.861_863delinsAGT
n.640_642delinsAGT
21g.43065655_43065657delinsAGACA2579812801CBSc.490_492delinsTCT (p.Arg164Ser)
n.801_803delinsTCT
c.541_543delinsTCT (p.Arg181Ser)
c.175_177delinsTCT (p.Arg59Ser)
n.861_863delinsTCT
n.640_642delinsTCT
21g.43065655_43065657delinsATACA2579812797CBSc.490_492delinsTAT (p.Arg164Tyr)
n.801_803delinsTAT
c.541_543delinsTAT (p.Arg181Tyr)
c.175_177delinsTAT (p.Arg59Tyr)
n.861_863delinsTAT
n.640_642delinsTAT
21g.43065655_43065657delinsATCCA2579812151CBSc.490_492delinsGAT (p.Arg164Asp)
n.801_803delinsGAT
c.541_543delinsGAT (p.Arg181Asp)
c.175_177delinsGAT (p.Arg59Asp)
n.861_863delinsGAT
n.640_642delinsGAT
21g.43065655_43065657delinsCAACA2579812145CBSc.490_492delinsTTG (p.Arg164Leu)
n.801_803delinsTTG
c.541_543delinsTTG (p.Arg181Leu)
c.175_177delinsTTG (p.Arg59Leu)
n.861_863delinsTTG
n.640_642delinsTTG
21g.43065655_43065657delinsCACCA2579812794CBSc.490_492delinsGTG (p.Arg164Val)
n.801_803delinsGTG
c.541_543delinsGTG (p.Arg181Val)
c.175_177delinsGTG (p.Arg59Val)
n.861_863delinsGTG
n.640_642delinsGTG
21g.43065655_43065657delinsCATCA2579812144CBSc.490_492delinsATG (p.Arg164Met)
n.801_803delinsATG
c.541_543delinsATG (p.Arg181Met)
c.175_177delinsATG (p.Arg59Met)
n.861_863delinsATG
n.640_642delinsATG
21g.43065655_43065657delinsCCACA2579812798CBSc.490_492delinsTGG (p.Arg164Trp)
n.801_803delinsTGG
c.541_543delinsTGG (p.Arg181Trp)
c.175_177delinsTGG (p.Arg59Trp)
n.861_863delinsTGG
n.640_642delinsTGG
21g.43065655_43065657delinsCCCCA2579812148CBSc.490_492delinsGGG (p.Arg164Gly)
n.801_803delinsGGG
c.541_543delinsGGG (p.Arg181Gly)
c.175_177delinsGGG (p.Arg59Gly)
n.861_863delinsGGG
n.640_642delinsGGG
21g.43065655_43065657delinsCCTCA2579812155CBSc.490_492delinsAGG (p.Arg164=)
n.801_803delinsAGG
c.541_543delinsAGG (p.Arg181=)
c.175_177delinsAGG (p.Arg59=)
n.861_863delinsAGG
n.640_642delinsAGG
21g.43065655_43065657delinsCGCCA2579812152CBSc.490_492delinsGCG (p.Arg164Ala)
n.801_803delinsGCG
c.541_543delinsGCG (p.Arg181Ala)
c.175_177delinsGCG (p.Arg59Ala)
n.861_863delinsGCG
n.640_642delinsGCG
21g.43065655_43065657delinsCTACA2579812799CBSc.490_492delinsTAG (p.Arg164Ter)
n.801_803delinsTAG
c.541_543delinsTAG (p.Arg181Ter)
c.175_177delinsTAG (p.Arg59Ter)
n.861_863delinsTAG
n.640_642delinsTAG
21g.43065655_43065657delinsTACCA2579812796CBSc.490_492delinsGTA (p.Arg164Val)
n.801_803delinsGTA
c.541_543delinsGTA (p.Arg181Val)
c.175_177delinsGTA (p.Arg59Val)
n.861_863delinsGTA
n.640_642delinsGTA
21g.43065656C>ACA410601412CBSc.491G>T (p.Arg164Leu)
n.802G>T
c.542G>T (p.Arg181Leu)
c.176G>T (p.Arg59Leu)
n.862G>T
n.641G>T
21g.43065656C=CA2391103872CBSc.491G= (p.Arg164=)
n.802G=
c.542G= (p.Arg181=)
c.176G= (p.Arg59=)
n.862G=
n.641G=
21g.43065656C>GCA410601410CBSc.491G>C (p.Arg164Pro)
n.802G>C
c.542G>C (p.Arg181Pro)
c.176G>C (p.Arg59Pro)
n.862G>C
n.641G>C
21g.43065656C>TCA321096667CBSc.491G>A (p.Arg164His)
n.802G>A
c.542G>A (p.Arg181His)
c.176G>A (p.Arg59His)
n.862G>A
n.641G>A
 ClinVar dbSNP gnomAD v4
21g.43065656_43065657delinsAACA2579812805CBSc.490_491delinsTT (p.Arg164Phe)
n.801_802delinsTT
c.541_542delinsTT (p.Arg181Phe)
c.175_176delinsTT (p.Arg59Phe)
n.861_862delinsTT
n.640_641delinsTT
21g.43065656_43065657delinsTCCA2579812153CBSc.490_491delinsGA (p.Arg164Asp)
n.801_802delinsGA
c.541_542delinsGA (p.Arg181Asp)
c.175_176delinsGA (p.Arg59Asp)
n.861_862delinsGA
n.640_641delinsGA
21g.43065657G>ACA410601414CBSc.490C>T (p.Arg164Cys)
n.801C>T
c.541C>T (p.Arg181Cys)
c.175C>T (p.Arg59Cys)
n.861C>T
n.640C>T
 dbSNP gnomAD v4 COSMIC COSMIC
21g.43065657G>CCA410601417CBSc.490C>G (p.Arg164Gly)
n.801C>G
c.541C>G (p.Arg181Gly)
c.175C>G (p.Arg59Gly)
n.861C>G
n.640C>G
21g.43065657G=CA2391103873CBSc.490C= (p.Arg164=)
n.801C=
c.541C= (p.Arg181=)
c.175C= (p.Arg59=)
n.861C=
n.640C=
21g.43065657G>TCA410601419CBSc.490C>A (p.Arg164Ser)
n.801C>A
c.541C>A (p.Arg181Ser)
c.175C>A (p.Arg59Ser)
n.861C>A
n.640C>A
21g.43065658A=CA2391103874CBSc.489T= (p.Tyr163=)
n.800T=
c.540T= (p.Tyr180=)
c.174T= (p.Tyr58=)
n.860T=
n.639T=
21g.43065658A>CCA410601421CBSc.489T>G (p.Tyr163Ter)
n.800T>G
c.540T>G (p.Tyr180Ter)
c.174T>G (p.Tyr58Ter)
n.860T>G
n.639T>G
21g.43065658A>GCA321096671CBSc.489T>C (p.Tyr163=)
n.800T>C
c.540T>C (p.Tyr180=)
c.174T>C (p.Tyr58=)
n.860T>C
n.639T>C
 ClinVar dbSNP gnomAD v4
21g.43065658A>TCA410601423CBSc.489T>A (p.Tyr163Ter)
n.800T>A
c.540T>A (p.Tyr180Ter)
c.174T>A (p.Tyr58Ter)
n.860T>A
n.639T>A
21g.43065658_43065659delinsCACA2579803577CBSc.488_489delinsTG (p.Tyr163Leu)
n.799_800delinsTG
c.539_540delinsTG (p.Tyr180Leu)
c.173_174delinsTG (p.Tyr58Leu)
n.859_860delinsTG
n.638_639delinsTG
21g.43065658_43065659delinsCCCA2579803569CBSc.488_489delinsGG (p.Tyr163Trp)
n.799_800delinsGG
c.539_540delinsGG (p.Tyr180Trp)
c.173_174delinsGG (p.Tyr58Trp)
n.859_860delinsGG
n.638_639delinsGG
21g.43065658_43065659delinsCGCA2579803574CBSc.488_489delinsCG (p.Tyr163Ser)
n.799_800delinsCG
c.539_540delinsCG (p.Tyr180Ser)
c.173_174delinsCG (p.Tyr58Ser)
n.859_860delinsCG
n.638_639delinsCG
21g.43065658_43065660delinsCACCA2579803568CBSc.487_489delinsGTG (p.Tyr163Val)
n.798_800delinsGTG
c.538_540delinsGTG (p.Tyr180Val)
c.172_174delinsGTG (p.Tyr58Val)
n.858_860delinsGTG
n.637_639delinsGTG
21g.43065658_43065660delinsCATCA2579803573CBSc.487_489delinsATG (p.Tyr163Met)
n.798_800delinsATG
c.538_540delinsATG (p.Tyr180Met)
c.172_174delinsATG (p.Tyr58Met)
n.858_860delinsATG
n.637_639delinsATG
21g.43065658_43065660delinsCCCCA2579803580CBSc.487_489delinsGGG (p.Tyr163Gly)
n.798_800delinsGGG
c.538_540delinsGGG (p.Tyr180Gly)
c.172_174delinsGGG (p.Tyr58Gly)
n.858_860delinsGGG
n.637_639delinsGGG
21g.43065658_43065660delinsCCTCA2579803581CBSc.487_489delinsAGG (p.Tyr163Arg)
n.798_800delinsAGG
c.538_540delinsAGG (p.Tyr180Arg)
c.172_174delinsAGG (p.Tyr58Arg)
n.858_860delinsAGG
n.637_639delinsAGG
21g.43065658_43065660delinsCGCCA2579803583CBSc.487_489delinsGCG (p.Tyr163Ala)
n.798_800delinsGCG
c.538_540delinsGCG (p.Tyr180Ala)
c.172_174delinsGCG (p.Tyr58Ala)
n.858_860delinsGCG
n.637_639delinsGCG
21g.43065658_43065660delinsCTCCA2579803579CBSc.487_489delinsGAG (p.Tyr163Glu)
n.798_800delinsGAG
c.538_540delinsGAG (p.Tyr180Glu)
c.172_174delinsGAG (p.Tyr58Glu)
n.858_860delinsGAG
n.637_639delinsGAG
21g.43065658_43065660delinsCTTCA2579803575CBSc.487_489delinsAAG (p.Tyr163Lys)
n.798_800delinsAAG
c.538_540delinsAAG (p.Tyr180Lys)
c.172_174delinsAAG (p.Tyr58Lys)
n.858_860delinsAAG
n.637_639delinsAAG
21g.43065659T>ACA410601425CBSc.488A>T (p.Tyr163Phe)
n.799A>T
c.539A>T (p.Tyr180Phe)
c.173A>T (p.Tyr58Phe)
n.859A>T
n.638A>T
21g.43065659T>CCA410601428CBSc.488A>G (p.Tyr163Cys)
n.799A>G
c.539A>G (p.Tyr180Cys)
c.173A>G (p.Tyr58Cys)
n.859A>G
n.638A>G
 ClinVar dbSNP
21g.43065659T>GCA410601426CBSc.488A>C (p.Tyr163Ser)
n.799A>C
c.539A>C (p.Tyr180Ser)
c.173A>C (p.Tyr58Ser)
n.859A>C
n.638A>C
 gnomAD v4
21g.43065659_43065660delinsACCA2579803570CBSc.487_488delinsGT (p.Tyr163Val)
n.798_799delinsGT
c.538_539delinsGT (p.Tyr180Val)
c.172_173delinsGT (p.Tyr58Val)
n.858_859delinsGT
n.637_638delinsGT
21g.43065659_43065660delinsAGCA2579803576CBSc.487_488delinsCT (p.Tyr163Leu)
n.798_799delinsCT
c.538_539delinsCT (p.Tyr180Leu)
c.172_173delinsCT (p.Tyr58Leu)
n.858_859delinsCT
n.637_638delinsCT
21g.43065659_43065660delinsCCCA2579803578CBSc.487_488delinsGG (p.Tyr163Gly)
n.798_799delinsGG
c.538_539delinsGG (p.Tyr180Gly)
c.172_173delinsGG (p.Tyr58Gly)
n.858_859delinsGG
n.637_638delinsGG
21g.43065659_43065660delinsCGCA2579803582CBSc.487_488delinsCG (p.Tyr163Arg)
n.798_799delinsCG
c.538_539delinsCG (p.Tyr180Arg)
c.172_173delinsCG (p.Tyr58Arg)
n.858_859delinsCG
n.637_638delinsCG
21g.43065659_43065660delinsCTCA2579803572CBSc.487_488delinsAG (p.Tyr163Ser)
n.798_799delinsAG
c.538_539delinsAG (p.Tyr180Ser)
c.172_173delinsAG (p.Tyr58Ser)
n.858_859delinsAG
n.637_638delinsAG
21g.43065659_43065660delinsGCCA2579803584CBSc.487_488delinsGC (p.Tyr163Ala)
n.798_799delinsGC
c.538_539delinsGC (p.Tyr180Ala)
c.172_173delinsGC (p.Tyr58Ala)
n.858_859delinsGC
n.637_638delinsGC
21g.43065659_43065660delinsGTCA2579803571CBSc.487_488delinsAC (p.Tyr163Thr)
n.798_799delinsAC
c.538_539delinsAC (p.Tyr180Thr)
c.172_173delinsAC (p.Tyr58Thr)
n.858_859delinsAC
n.637_638delinsAC
21g.43065660A>CCA410601430CBSc.487T>G (p.Tyr163Asp)
n.798T>G
c.538T>G (p.Tyr180Asp)
c.172T>G (p.Tyr58Asp)
n.858T>G
n.637T>G
21g.43065660A>GCA410601432CBSc.487T>C (p.Tyr163His)
n.798T>C
c.538T>C (p.Tyr180His)
c.172T>C (p.Tyr58His)
n.858T>C
n.637T>C
21g.43065660A>TCA410601433CBSc.487T>A (p.Tyr163Asn)
n.798T>A
c.538T>A (p.Tyr180Asn)
c.172T>A (p.Tyr58Asn)
n.858T>A
n.637T>A
21g.43065661G>ACA749580065CBSc.486C>T (p.Gly162=)
n.797C>T
c.537C>T (p.Gly179=)
c.171C>T (p.Gly57=)
n.857C>T
n.636C>T
 dbSNP
21g.43065661G>CCA2579809591CBSc.486C>G (p.Gly162=)
n.797C>G
c.537C>G (p.Gly179=)
c.171C>G (p.Gly57=)
n.857C>G
n.636C>G
21g.43065661G=CA2391103875CBSc.486C= (p.Gly162=)
n.797C=
c.537C= (p.Gly179=)
c.171C= (p.Gly57=)
n.857C=
n.636C=
21g.43065661_43065662delinsCACA2579809581CBSc.485_486delinsTG (p.Gly162Val)
n.796_797delinsTG
c.536_537delinsTG (p.Gly179Val)
c.170_171delinsTG (p.Gly57Val)
n.856_857delinsTG
n.635_636delinsTG
21g.43065661_43065662delinsTACA2579809580CBSc.485_486delinsTA (p.Gly162Val)
n.796_797delinsTA
c.536_537delinsTA (p.Gly179Val)
c.170_171delinsTA (p.Gly57Val)
n.856_857delinsTA
n.635_636delinsTA
21g.43065661_43065663delinsAAACA2579809587CBSc.484_486delinsTTT (p.Gly162Phe)
n.795_797delinsTTT
c.535_537delinsTTT (p.Gly179Phe)
c.169_171delinsTTT (p.Gly57Phe)
n.855_857delinsTTT
n.634_636delinsTTT
21g.43065661_43065663delinsAAGCA2579809590CBSc.484_486delinsCTT (p.Gly162Leu)
n.795_797delinsCTT
c.535_537delinsCTT (p.Gly179Leu)
c.169_171delinsCTT (p.Gly57Leu)
n.855_857delinsCTT
n.634_636delinsCTT
21g.43065661_43065663delinsACACA2579809589CBSc.484_486delinsTGT (p.Gly162Cys)
n.795_797delinsTGT
c.535_537delinsTGT (p.Gly179Cys)
c.169_171delinsTGT (p.Gly57Cys)
n.855_857delinsTGT
n.634_636delinsTGT
21g.43065661_43065663delinsAGACA2579813722CBSc.484_486delinsTCT (p.Gly162Ser)
n.795_797delinsTCT
c.535_537delinsTCT (p.Gly179Ser)
c.169_171delinsTCT (p.Gly57Ser)
n.855_857delinsTCT
n.634_636delinsTCT
21g.43065661_43065663delinsAGGCA2579809586CBSc.484_486delinsCCT (p.Gly162Pro)
n.795_797delinsCCT
c.535_537delinsCCT (p.Gly179Pro)
c.169_171delinsCCT (p.Gly57Pro)
n.855_857delinsCCT
n.634_636delinsCCT
21g.43065661_43065663delinsAGTCA2579809585CBSc.484_486delinsACT (p.Gly162Thr)
n.795_797delinsACT
c.535_537delinsACT (p.Gly179Thr)
c.169_171delinsACT (p.Gly57Thr)
n.855_857delinsACT
n.634_636delinsACT
21g.43065661_43065663delinsCAACA2579809588CBSc.484_486delinsTTG (p.Gly162Leu)
n.795_797delinsTTG
c.535_537delinsTTG (p.Gly179Leu)
c.169_171delinsTTG (p.Gly57Leu)
n.855_857delinsTTG
n.634_636delinsTTG
21g.43065661_43065663delinsCCACA2579809583CBSc.484_486delinsTGG (p.Gly162Trp)
n.795_797delinsTGG
c.535_537delinsTGG (p.Gly179Trp)
c.169_171delinsTGG (p.Gly57Trp)
n.855_857delinsTGG
n.634_636delinsTGG
21g.43065662C>ACA410601435CBSc.485G>T (p.Gly162Val)
n.796G>T
c.536G>T (p.Gly179Val)
c.170G>T (p.Gly57Val)
n.856G>T
n.635G>T
21g.43065662C>GCA410601437CBSc.485G>C (p.Gly162Ala)
n.796G>C
c.536G>C (p.Gly179Ala)
c.170G>C (p.Gly57Ala)
n.856G>C
n.635G>C
21g.43065662C>TCA410601438CBSc.485G>A (p.Gly162Asp)
n.796G>A
c.536G>A (p.Gly179Asp)
c.170G>A (p.Gly57Asp)
n.856G>A
n.635G>A
 gnomAD v4
21g.43065662_43065663delinsGACA2579809584CBSc.484_485delinsTC (p.Gly162Ser)
n.795_796delinsTC
c.535_536delinsTC (p.Gly179Ser)
c.169_170delinsTC (p.Gly57Ser)
n.855_856delinsTC
n.634_635delinsTC
21g.43065662_43065663delinsTACA2579809582CBSc.484_485delinsTA (p.Gly162Tyr)
n.795_796delinsTA
c.535_536delinsTA (p.Gly179Tyr)
c.169_170delinsTA (p.Gly57Tyr)
n.855_856delinsTA
n.634_635delinsTA
21g.43065663_43065665dupCA920313692CBSc.483_485dup (p.Gly162_Tyr163insGly)
n.794_796dup
c.534_536dup (p.Gly179_Tyr180insGly)
c.168_170dup (p.Gly57_Tyr58insGly)
n.854_856dup
n.633_635dup
 dbSNP
21g.43065663C>ACA410601440CBSc.484G>T (p.Gly162Cys)
n.795G>T
c.535G>T (p.Gly179Cys)
c.169G>T (p.Gly57Cys)
n.855G>T
n.634G>T
21g.43065663C=CA2391103876CBSc.484G= (p.Gly162=)
n.795G=
c.535G= (p.Gly179=)
c.169G= (p.Gly57=)
n.855G=
n.634G=
21g.43065663C>GCA410601442CBSc.484G>C (p.Gly162Arg)
n.795G>C
c.535G>C (p.Gly179Arg)
c.169G>C (p.Gly57Arg)
n.855G>C
n.634G>C
21g.43065663C>TCA321096685CBSc.484G>A (p.Gly162Ser)
n.795G>A
c.535G>A (p.Gly179Ser)
c.169G>A (p.Gly57Ser)
n.855G>A
n.634G>A
 dbSNP gnomAD v4
21g.43065664C>ACA410601444CBSc.483G>T (p.Arg161Ser)
n.794G>T
c.534G>T (p.Arg178Ser)
c.168G>T (p.Arg56Ser)
n.854G>T
n.633G>T
21g.43065664C=CA2391103877CBSc.483G= (p.Arg161=)
n.794G=
c.534G= (p.Arg178=)
c.168G= (p.Arg56=)
n.854G=
n.633G=
21g.43065664C>GCA410601445CBSc.483G>C (p.Arg161Ser)
n.794G>C
c.534G>C (p.Arg178Ser)
c.168G>C (p.Arg56Ser)
n.854G>C
n.633G>C
21g.43065664C>TCA749580066CBSc.483G>A (p.Arg161=)
n.794G>A
c.534G>A (p.Arg178=)
c.168G>A (p.Arg56=)
n.854G>A
n.633G>A
 dbSNP
21g.43065664_43065665delinsAGCA2579812158CBSc.482_483delinsCT (p.Arg161Thr)
n.793_794delinsCT
c.533_534delinsCT (p.Arg178Thr)
c.167_168delinsCT (p.Arg56Thr)
n.853_854delinsCT
n.632_633delinsCT
21g.43065664_43065666delinsAACCA2579812156CBSc.481_483delinsGTT (p.Arg161Val)
n.792_794delinsGTT
c.532_534delinsGTT (p.Arg178Val)
c.166_168delinsGTT (p.Arg56Val)
n.852_854delinsGTT
n.631_633delinsGTT
21g.43065664_43065666delinsAAGCA2579812163CBSc.481_483delinsCTT (p.Arg161Leu)
n.792_794delinsCTT
c.532_534delinsCTT (p.Arg178Leu)
c.166_168delinsCTT (p.Arg56Leu)
n.852_854delinsCTT
n.631_633delinsCTT
21g.43065664_43065666delinsACACA2579812168CBSc.481_483delinsTGT (p.Arg161Cys)
n.792_794delinsTGT
c.532_534delinsTGT (p.Arg178Cys)
c.166_168delinsTGT (p.Arg56Cys)
n.852_854delinsTGT
n.631_633delinsTGT
21g.43065664_43065666delinsACCCA2579812164CBSc.481_483delinsGGT (p.Arg161Gly)
n.792_794delinsGGT
c.532_534delinsGGT (p.Arg178Gly)
c.166_168delinsGGT (p.Arg56Gly)
n.852_854delinsGGT
n.631_633delinsGGT
21g.43065664_43065666delinsAGACA2579812161CBSc.481_483delinsTCT (p.Arg161Ser)
n.792_794delinsTCT
c.532_534delinsTCT (p.Arg178Ser)
c.166_168delinsTCT (p.Arg56Ser)
n.852_854delinsTCT
n.631_633delinsTCT
21g.43065664_43065666delinsATCCA2579812169CBSc.481_483delinsGAT (p.Arg161Asp)
n.792_794delinsGAT
c.532_534delinsGAT (p.Arg178Asp)
c.166_168delinsGAT (p.Arg56Asp)
n.852_854delinsGAT
n.631_633delinsGAT
21g.43065664_43065666delinsTCACA2579812160CBSc.481_483delinsTGA (p.Arg161Ter)
n.792_794delinsTGA
c.532_534delinsTGA (p.Arg178Ter)
c.166_168delinsTGA (p.Arg56Ter)
n.852_854delinsTGA
n.631_633delinsTGA
21g.43065664_43065666delinsTCCCA2579812165CBSc.481_483delinsGGA (p.Arg161Gly)
n.792_794delinsGGA
c.532_534delinsGGA (p.Arg178Gly)
c.166_168delinsGGA (p.Arg56Gly)
n.852_854delinsGGA
n.631_633delinsGGA
21g.43065664_43065666delinsTCGCA2579812167CBSc.481_483delinsCGA (p.Arg161=)
n.792_794delinsCGA
c.532_534delinsCGA (p.Arg178=)
c.166_168delinsCGA (p.Arg56=)
n.852_854delinsCGA
n.631_633delinsCGA
21g.43065665C>ACA410601448CBSc.482G>T (p.Arg161Met)
n.793G>T
c.533G>T (p.Arg178Met)
c.167G>T (p.Arg56Met)
n.853G>T
n.632G>T
21g.43065665C>GCA410601451CBSc.482G>C (p.Arg161Thr)
n.793G>C
c.533G>C (p.Arg178Thr)
c.167G>C (p.Arg56Thr)
n.853G>C
n.632G>C
21g.43065665C>TCA410601449CBSc.482G>A (p.Arg161Lys)
n.793G>A
c.533G>A (p.Arg178Lys)
c.167G>A (p.Arg56Lys)
n.853G>A
n.632G>A
 gnomAD v4
21g.43065665_43065666delinsAACA2579812162CBSc.481_482delinsTT (p.Arg161Leu)
n.792_793delinsTT
c.532_533delinsTT (p.Arg178Leu)
c.166_167delinsTT (p.Arg56Leu)
n.852_853delinsTT
n.631_632delinsTT
21g.43065665_43065666delinsACCA2579812157CBSc.481_482delinsGT (p.Arg161Val)
n.792_793delinsGT
c.532_533delinsGT (p.Arg178Val)
c.166_167delinsGT (p.Arg56Val)
n.852_853delinsGT
n.631_632delinsGT
21g.43065665_43065666delinsTACA2579812159CBSc.481_482delinsTA (p.Arg161Ter)
n.792_793delinsTA
c.532_533delinsTA (p.Arg178Ter)
c.166_167delinsTA (p.Arg56Ter)
n.852_853delinsTA
n.631_632delinsTA
21g.43065665_43065666delinsTCCA2579812166CBSc.481_482delinsGA (p.Arg161Glu)
n.792_793delinsGA
c.532_533delinsGA (p.Arg178Glu)
c.166_167delinsGA (p.Arg56Glu)
n.852_853delinsGA
n.631_632delinsGA
21g.43065666delCA2573157483CBSc.481del (p.Arg161GlyfsTer8)
n.792del
c.532del (p.Arg178GlyfsTer8)
c.166del (p.Arg56GlyfsTer8)
n.852del
n.631del
 ClinVar dbSNP
21g.43065666T>ACA410601452CBSc.481A>T (p.Arg161Trp)
n.792A>T
c.532A>T (p.Arg178Trp)
c.166A>T (p.Arg56Trp)
n.852A>T
n.631A>T
21g.43065666T>CCA410601453CBSc.481A>G (p.Arg161Gly)
n.792A>G
c.532A>G (p.Arg178Gly)
c.166A>G (p.Arg56Gly)
n.852A>G
n.631A>G
21g.43065667C=CA2391103878CBSc.480G= (p.Val160=)
n.791G=
c.531G= (p.Val177=)
c.165G= (p.Val55=)
n.851G=
n.630G=
21g.43065667C>TCA749580067CBSc.480G>A (p.Val160=)
n.791G>A
c.531G>A (p.Val177=)
c.165G>A (p.Val55=)
n.851G>A
n.630G>A
 dbSNP
21g.43065667_43065668delinsACCA2579803324CBSc.479_480delinsGT (p.Val160Gly)
n.790_791delinsGT
c.530_531delinsGT (p.Val177Gly)
c.164_165delinsGT (p.Val55Gly)
n.850_851delinsGT
n.629_630delinsGT
21g.43065667_43065668delinsAGCA2579803331CBSc.479_480delinsCT (p.Val160Ala)
n.790_791delinsCT
c.530_531delinsCT (p.Val177Ala)
c.164_165delinsCT (p.Val55Ala)
n.850_851delinsCT
n.629_630delinsCT
21g.43065667_43065668delinsATCA2579803329CBSc.479_480delinsAT (p.Val160Asp)
n.790_791delinsAT
c.530_531delinsAT (p.Val177Asp)
c.164_165delinsAT (p.Val55Asp)
n.850_851delinsAT
n.629_630delinsAT
21g.43065667_43065669delinsAAACA2579803320CBSc.478_480delinsTTT (p.Val160Phe)
n.789_791delinsTTT
c.529_531delinsTTT (p.Val177Phe)
c.163_165delinsTTT (p.Val55Phe)
n.849_851delinsTTT
n.628_630delinsTTT
21g.43065667_43065669delinsAATCA2579803323CBSc.478_480delinsATT (p.Val160Ile)
n.789_791delinsATT
c.529_531delinsATT (p.Val177Ile)
c.163_165delinsATT (p.Val55Ile)
n.849_851delinsATT
n.628_630delinsATT
21g.43065667_43065669delinsACACA2579803328CBSc.478_480delinsTGT (p.Val160Cys)
n.789_791delinsTGT
c.529_531delinsTGT (p.Val177Cys)
c.163_165delinsTGT (p.Val55Cys)
n.849_851delinsTGT
n.628_630delinsTGT
21g.43065667_43065669delinsACGCA2579803330CBSc.478_480delinsCGT (p.Val160Arg)
n.789_791delinsCGT
c.529_531delinsCGT (p.Val177Arg)
c.163_165delinsCGT (p.Val55Arg)
n.849_851delinsCGT
n.628_630delinsCGT
21g.43065667_43065669delinsAGACA2579803317CBSc.478_480delinsTCT (p.Val160Ser)
n.789_791delinsTCT
c.529_531delinsTCT (p.Val177Ser)
c.163_165delinsTCT (p.Val55Ser)
n.849_851delinsTCT
n.628_630delinsTCT
21g.43065667_43065669delinsAGGCA2579803319CBSc.478_480delinsCCT (p.Val160Pro)
n.789_791delinsCCT
c.529_531delinsCCT (p.Val177Pro)
c.163_165delinsCCT (p.Val55Pro)
n.849_851delinsCCT
n.628_630delinsCCT
21g.43065667_43065669delinsATGCA2579803325CBSc.478_480delinsCAT (p.Val160His)
n.789_791delinsCAT
c.529_531delinsCAT (p.Val177His)
c.163_165delinsCAT (p.Val55His)
n.849_851delinsCAT
n.628_630delinsCAT
21g.43065667_43065669delinsTAACA2579803322CBSc.478_480delinsTTA (p.Val160Leu)
n.789_791delinsTTA
c.529_531delinsTTA (p.Val177Leu)
c.163_165delinsTTA (p.Val55Leu)
n.849_851delinsTTA
n.628_630delinsTTA

Number of alleles fetched