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.43065524_43065552delCA2695230230CBSc.532-30_532-2del (n.532-30_532-2del)
n.843-30_843-2del
c.583-30_583-2del (n.583-30_583-2del)
c.217-30_217-2del (n.217-30_217-2del)
n.903-30_903-2del
n.682-30_682-2del
21g.43065545T>GCA2818000959CBSc.532-24A>C (n.532-24A>C)
n.843-24A>C
c.583-24A>C (n.583-24A>C)
c.217-24A>C (n.217-24A>C)
n.903-24A>C
n.682-24A>C
21g.43065547C=CA2391103809CBSc.532-26G= (n.532-26G=)
n.843-26G=
c.583-26G= (n.583-26G=)
c.217-26G= (n.217-26G=)
n.903-26G=
n.682-26G=
21g.43065547C>TCA321096378CBSc.532-26G>A (n.532-26G>A)
n.843-26G>A
c.583-26G>A (n.583-26G>A)
c.217-26G>A (n.217-26G>A)
n.903-26G>A
n.682-26G>A
 dbSNP gnomAD v4
21g.43065548A=CA2391103810CBSc.532-27T= (n.532-27T=)
n.843-27T=
c.583-27T= (n.583-27T=)
c.217-27T= (n.217-27T=)
n.903-27T=
n.682-27T=
21g.43065548A>CCA2391103811CBSc.532-27T>G (n.532-27T>G)
n.843-27T>G
c.583-27T>G (n.583-27T>G)
c.217-27T>G (n.217-27T>G)
n.903-27T>G
n.682-27T>G
 dbSNP
21g.43065549C>ACA749580007CBSc.532-28G>T (n.532-28G>T)
n.843-28G>T
c.583-28G>T (n.583-28G>T)
c.217-28G>T (n.217-28G>T)
n.903-28G>T
n.682-28G>T
 dbSNP gnomAD v3 gnomAD v4
21g.43065549C=CA2391103812CBSc.532-28G= (n.532-28G=)
n.843-28G=
c.583-28G= (n.583-28G=)
c.217-28G= (n.217-28G=)
n.903-28G=
n.682-28G=
21g.43065549C>GCA2391103813CBSc.532-28G>C (n.532-28G>C)
n.843-28G>C
c.583-28G>C (n.583-28G>C)
c.217-28G>C (n.217-28G>C)
n.903-28G>C
n.682-28G>C
 dbSNP gnomAD v4
21g.43065550C>ACA2654728347CBSc.532-29G>T (n.532-29G>T)
n.843-29G>T
c.583-29G>T (n.583-29G>T)
c.217-29G>T (n.217-29G>T)
n.903-29G>T
n.682-29G>T
 gnomAD v4
21g.43065550C=CA2391103814CBSc.532-29G= (n.532-29G=)
n.843-29G=
c.583-29G= (n.583-29G=)
c.217-29G= (n.217-29G=)
n.903-29G=
n.682-29G=
21g.43065550C>TCA2391103815CBSc.532-29G>A (n.532-29G>A)
n.843-29G>A
c.583-29G>A (n.583-29G>A)
c.217-29G>A (n.217-29G>A)
n.903-29G>A
n.682-29G>A
 dbSNP
21g.43065551T>CCA2577615875CBSc.532-30A>G (n.532-30A>G)
n.843-30A>G
c.583-30A>G (n.583-30A>G)
c.217-30A>G (n.217-30A>G)
n.903-30A>G
n.682-30A>G
 gnomAD v4
21g.43065551T>GCA2818000961CBSc.532-30A>C (n.532-30A>C)
n.843-30A>C
c.583-30A>C (n.583-30A>C)
c.217-30A>C (n.217-30A>C)
n.903-30A>C
n.682-30A>C
21g.43065552T>CCA2654728348CBSc.532-31A>G (n.532-31A>G)
n.843-31A>G
c.583-31A>G (n.583-31A>G)
c.217-31A>G (n.217-31A>G)
n.903-31A>G
n.682-31A>G
 gnomAD v4
21g.43065552T>GCA1022628316CBSc.532-31A>C (n.532-31A>C)
n.843-31A>C
c.583-31A>C (n.583-31A>C)
c.217-31A>C (n.217-31A>C)
n.903-31A>C
n.682-31A>C
 gnomAD v3 gnomAD v4
21g.43065553C>ACA2654728349CBSc.532-32G>T (n.532-32G>T)
n.843-32G>T
c.583-32G>T (n.583-32G>T)
c.217-32G>T (n.217-32G>T)
n.903-32G>T
n.682-32G>T
 gnomAD v4
21g.43065553C=CA2391103816CBSc.532-32G= (n.532-32G=)
n.843-32G=
c.583-32G= (n.583-32G=)
c.217-32G= (n.217-32G=)
n.903-32G=
n.682-32G=
21g.43065553C>GCA749580008CBSc.532-32G>C (n.532-32G>C)
n.843-32G>C
c.583-32G>C (n.583-32G>C)
c.217-32G>C (n.217-32G>C)
n.903-32G>C
n.682-32G>C
 dbSNP gnomAD v4
21g.43065554C=CA2391103817CBSc.532-33G= (n.532-33G=)
n.843-33G=
c.583-33G= (n.583-33G=)
c.217-33G= (n.217-33G=)
n.903-33G=
n.682-33G=
21g.43065554C>GCA2818000962CBSc.532-33G>C (n.532-33G>C)
n.843-33G>C
c.583-33G>C (n.583-33G>C)
c.217-33G>C (n.217-33G>C)
n.903-33G>C
n.682-33G>C
21g.43065554C>TCA321096390CBSc.532-33G>A (n.532-33G>A)
n.843-33G>A
c.583-33G>A (n.583-33G>A)
c.217-33G>A (n.217-33G>A)
n.903-33G>A
n.682-33G>A
 dbSNP gnomAD v4
21g.43065555G>ACA321096401CBSc.532-34C>T (n.532-34C>T)
n.843-34C>T
c.583-34C>T (n.583-34C>T)
c.217-34C>T (n.217-34C>T)
n.903-34C>T
n.682-34C>T
 dbSNP gnomAD v3 gnomAD v4
21g.43065555G=CA2391103818CBSc.532-34C= (n.532-34C=)
n.843-34C=
c.583-34C= (n.583-34C=)
c.217-34C= (n.217-34C=)
n.903-34C=
n.682-34C=
21g.43065555G>TCA749580010CBSc.532-34C>A (n.532-34C>A)
n.843-34C>A
c.583-34C>A (n.583-34C>A)
c.217-34C>A (n.217-34C>A)
n.903-34C>A
n.682-34C>A
 dbSNP
21g.43065556C>TCA657667240CBSc.532-35G>A (n.532-35G>A)
n.843-35G>A
c.583-35G>A (n.583-35G>A)
c.217-35G>A (n.217-35G>A)
n.903-35G>A
n.682-35G>A
 gnomAD v4 COSMIC
21g.43065557C>TCA2654728350CBSc.532-36G>A (n.532-36G>A)
n.843-36G>A
c.583-36G>A (n.583-36G>A)
c.217-36G>A (n.217-36G>A)
n.903-36G>A
n.682-36G>A
 gnomAD v4
21g.43065560G>ACA2654728351CBSc.532-39C>T (n.532-39C>T)
n.843-39C>T
c.583-39C>T (n.583-39C>T)
c.217-39C>T (n.217-39C>T)
n.903-39C>T
n.682-39C>T
 gnomAD v4
21g.43065562C=CA2391103819CBSc.532-41G= (n.532-41G=)
n.843-41G=
c.583-41G= (n.583-41G=)
c.217-41G= (n.217-41G=)
n.903-41G=
n.682-41G=
21g.43065562C>TCA321096415CBSc.532-41G>A (n.532-41G>A)
n.843-41G>A
c.583-41G>A (n.583-41G>A)
c.217-41G>A (n.217-41G>A)
n.903-41G>A
n.682-41G>A
 dbSNP
21g.43065566G>ACA321096427CBSc.532-45C>T (n.532-45C>T)
n.843-45C>T
c.583-45C>T (n.583-45C>T)
c.217-45C>T (n.217-45C>T)
n.903-45C>T
n.682-45C>T
 dbSNP gnomAD v3 gnomAD v4
21g.43065566G=CA2391103820CBSc.532-45C= (n.532-45C=)
n.843-45C=
c.583-45C= (n.583-45C=)
c.217-45C= (n.217-45C=)
n.903-45C=
n.682-45C=
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

Number of alleles fetched