Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.64598487T>ACA2614173610SLC22A12c.831-29T>A (n.831-29T>A)
c.729-29T>A (n.729-29T>A)
c.507-29T>A (n.507-29T>A)
c.168-29T>A (n.168-29T>A)
c.906-29T>A (n.906-29T>A)
c.801-29T>A (n.801-29T>A)
 gnomAD v4
11g.64598487T>CCA223870779SLC22A12c.831-29T>C (n.831-29T>C)
c.729-29T>C (n.729-29T>C)
c.507-29T>C (n.507-29T>C)
c.168-29T>C (n.168-29T>C)
c.906-29T>C (n.906-29T>C)
c.801-29T>C (n.801-29T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.64598487T=CA1978798512SLC22A12c.831-29T= (n.831-29T=)
c.729-29T= (n.729-29T=)
c.507-29T= (n.507-29T=)
c.168-29T= (n.168-29T=)
c.906-29T= (n.906-29T=)
c.801-29T= (n.801-29T=)
11g.64598488G>ACA2614173611SLC22A12c.831-28G>A (n.831-28G>A)
c.729-28G>A (n.729-28G>A)
c.507-28G>A (n.507-28G>A)
c.168-28G>A (n.168-28G>A)
c.906-28G>A (n.906-28G>A)
c.801-28G>A (n.801-28G>A)
 gnomAD v4
11g.64598489A>GCA2614173612SLC22A12c.831-27A>G (n.831-27A>G)
c.729-27A>G (n.729-27A>G)
c.507-27A>G (n.507-27A>G)
c.168-27A>G (n.168-27A>G)
c.906-27A>G (n.906-27A>G)
c.801-27A>G (n.801-27A>G)
 gnomAD v4
11g.64598489A>TCA2614173613SLC22A12c.831-27A>T (n.831-27A>T)
c.729-27A>T (n.729-27A>T)
c.507-27A>T (n.507-27A>T)
c.168-27A>T (n.168-27A>T)
c.906-27A>T (n.906-27A>T)
c.801-27A>T (n.801-27A>T)
 gnomAD v4
11g.64598490C>ACA2614173615SLC22A12c.831-26C>A (n.831-26C>A)
c.729-26C>A (n.729-26C>A)
c.507-26C>A (n.507-26C>A)
c.168-26C>A (n.168-26C>A)
c.906-26C>A (n.906-26C>A)
c.801-26C>A (n.801-26C>A)
 gnomAD v4
11g.64598490C=CA1978798516SLC22A12c.831-26C= (n.831-26C=)
c.729-26C= (n.729-26C=)
c.507-26C= (n.507-26C=)
c.168-26C= (n.168-26C=)
c.906-26C= (n.906-26C=)
c.801-26C= (n.801-26C=)
11g.64598490C>TCA599649147SLC22A12c.831-26C>T (n.831-26C>T)
c.729-26C>T (n.729-26C>T)
c.507-26C>T (n.507-26C>T)
c.168-26C>T (n.168-26C>T)
c.906-26C>T (n.906-26C>T)
c.801-26C>T (n.801-26C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.64598493dupCA2614173614SLC22A12c.831-23dup (n.831-23dup)
c.729-23dup (n.729-23dup)
c.507-23dup (n.507-23dup)
c.168-23dup (n.168-23dup)
c.906-23dup (n.906-23dup)
c.801-23dup (n.801-23dup)
 gnomAD v4
11g.64598491C>ACA6077203SLC22A12c.831-25C>A (n.831-25C>A)
c.729-25C>A (n.729-25C>A)
c.507-25C>A (n.507-25C>A)
c.168-25C>A (n.168-25C>A)
c.906-25C>A (n.906-25C>A)
c.801-25C>A (n.801-25C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64598491C=CA1978798519SLC22A12c.831-25C= (n.831-25C=)
c.729-25C= (n.729-25C=)
c.507-25C= (n.507-25C=)
c.168-25C= (n.168-25C=)
c.906-25C= (n.906-25C=)
c.801-25C= (n.801-25C=)
11g.64598491C>TCA599649150SLC22A12c.831-25C>T (n.831-25C>T)
c.729-25C>T (n.729-25C>T)
c.507-25C>T (n.507-25C>T)
c.168-25C>T (n.168-25C>T)
c.906-25C>T (n.906-25C>T)
c.801-25C>T (n.801-25C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.64598492C>ACA599649159SLC22A12c.831-24C>A (n.831-24C>A)
c.729-24C>A (n.729-24C>A)
c.507-24C>A (n.507-24C>A)
c.168-24C>A (n.168-24C>A)
c.906-24C>A (n.906-24C>A)
c.801-24C>A (n.801-24C>A)
 dbSNP gnomAD v2 gnomAD v4
11g.64598492C=CA1978798525SLC22A12c.831-24C= (n.831-24C=)
c.729-24C= (n.729-24C=)
c.507-24C= (n.507-24C=)
c.168-24C= (n.168-24C=)
c.906-24C= (n.906-24C=)
c.801-24C= (n.801-24C=)
11g.64598492C>TCA599649156SLC22A12c.831-24C>T (n.831-24C>T)
c.729-24C>T (n.729-24C>T)
c.507-24C>T (n.507-24C>T)
c.168-24C>T (n.168-24C>T)
c.906-24C>T (n.906-24C>T)
c.801-24C>T (n.801-24C>T)
 dbSNP gnomAD v2
11g.64598493C>ACA2614173616SLC22A12c.831-23C>A (n.831-23C>A)
c.729-23C>A (n.729-23C>A)
c.507-23C>A (n.507-23C>A)
c.168-23C>A (n.168-23C>A)
c.906-23C>A (n.906-23C>A)
c.801-23C>A (n.801-23C>A)
 gnomAD v4
11g.64598493C=CA1978798540SLC22A12c.831-23C= (n.831-23C=)
c.729-23C= (n.729-23C=)
c.507-23C= (n.507-23C=)
c.168-23C= (n.168-23C=)
c.906-23C= (n.906-23C=)
c.801-23C= (n.801-23C=)
11g.64598493C>GCA6077204SLC22A12c.831-23C>G (n.831-23C>G)
c.729-23C>G (n.729-23C>G)
c.507-23C>G (n.507-23C>G)
c.168-23C>G (n.168-23C>G)
c.906-23C>G (n.906-23C>G)
c.801-23C>G (n.801-23C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.64598493C>TCA2614173617SLC22A12c.831-23C>T (n.831-23C>T)
c.729-23C>T (n.729-23C>T)
c.507-23C>T (n.507-23C>T)
c.168-23C>T (n.168-23C>T)
c.906-23C>T (n.906-23C>T)
c.801-23C>T (n.801-23C>T)
 gnomAD v4
11g.64598494T>CCA2614173618SLC22A12c.831-22T>C (n.831-22T>C)
c.729-22T>C (n.729-22T>C)
c.507-22T>C (n.507-22T>C)
c.168-22T>C (n.168-22T>C)
c.906-22T>C (n.906-22T>C)
c.801-22T>C (n.801-22T>C)
 gnomAD v4
11g.64598495C>ACA2614173619SLC22A12c.831-21C>A (n.831-21C>A)
c.729-21C>A (n.729-21C>A)
c.507-21C>A (n.507-21C>A)
c.168-21C>A (n.168-21C>A)
c.906-21C>A (n.906-21C>A)
c.801-21C>A (n.801-21C>A)
 gnomAD v4
11g.64598495C=CA1978798541SLC22A12c.831-21C= (n.831-21C=)
c.729-21C= (n.729-21C=)
c.507-21C= (n.507-21C=)
c.168-21C= (n.168-21C=)
c.906-21C= (n.906-21C=)
c.801-21C= (n.801-21C=)
11g.64598495C>TCA599649161SLC22A12c.831-21C>T (n.831-21C>T)
c.729-21C>T (n.729-21C>T)
c.507-21C>T (n.507-21C>T)
c.168-21C>T (n.168-21C>T)
c.906-21C>T (n.906-21C>T)
c.801-21C>T (n.801-21C>T)
 dbSNP gnomAD v2
11g.64598496C>ACA2614173620SLC22A12c.831-20C>A (n.831-20C>A)
c.729-20C>A (n.729-20C>A)
c.507-20C>A (n.507-20C>A)
c.168-20C>A (n.168-20C>A)
c.906-20C>A (n.906-20C>A)
c.801-20C>A (n.801-20C>A)
 gnomAD v4
11g.64598496C>TCA2614173621SLC22A12c.831-20C>T (n.831-20C>T)
c.729-20C>T (n.729-20C>T)
c.507-20C>T (n.507-20C>T)
c.168-20C>T (n.168-20C>T)
c.906-20C>T (n.906-20C>T)
c.801-20C>T (n.801-20C>T)
 gnomAD v4
11g.64598497C>ACA2614173622SLC22A12c.831-19C>A (n.831-19C>A)
c.729-19C>A (n.729-19C>A)
c.507-19C>A (n.507-19C>A)
c.168-19C>A (n.168-19C>A)
c.906-19C>A (n.906-19C>A)
c.801-19C>A (n.801-19C>A)
 gnomAD v4
11g.64598497C=CA1978798559SLC22A12c.831-19C= (n.831-19C=)
c.729-19C= (n.729-19C=)
c.507-19C= (n.507-19C=)
c.168-19C= (n.168-19C=)
c.906-19C= (n.906-19C=)
c.801-19C= (n.801-19C=)
11g.64598497C>TCA599649165SLC22A12c.831-19C>T (n.831-19C>T)
c.729-19C>T (n.729-19C>T)
c.507-19C>T (n.507-19C>T)
c.168-19C>T (n.168-19C>T)
c.906-19C>T (n.906-19C>T)
c.801-19C>T (n.801-19C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.64598498A>CCA2614173623SLC22A12c.831-18A>C (n.831-18A>C)
c.729-18A>C (n.729-18A>C)
c.507-18A>C (n.507-18A>C)
c.168-18A>C (n.168-18A>C)
c.906-18A>C (n.906-18A>C)
c.801-18A>C (n.801-18A>C)
 gnomAD v4
11g.64598498A>TCA2614173624SLC22A12c.831-18A>T (n.831-18A>T)
c.729-18A>T (n.729-18A>T)
c.507-18A>T (n.507-18A>T)
c.168-18A>T (n.168-18A>T)
c.906-18A>T (n.906-18A>T)
c.801-18A>T (n.801-18A>T)
 gnomAD v4
11g.64598499C>ACA6077206SLC22A12c.831-17C>A (n.831-17C>A)
c.729-17C>A (n.729-17C>A)
c.507-17C>A (n.507-17C>A)
c.168-17C>A (n.168-17C>A)
c.906-17C>A (n.906-17C>A)
c.801-17C>A (n.801-17C>A)
 dbSNP ExAC gnomAD v4
11g.64598499C=CA1978798564SLC22A12c.831-17C= (n.831-17C=)
c.729-17C= (n.729-17C=)
c.507-17C= (n.507-17C=)
c.168-17C= (n.168-17C=)
c.906-17C= (n.906-17C=)
c.801-17C= (n.801-17C=)
11g.64598499C>GCA2574863237SLC22A12c.831-17C>G (n.831-17C>G)
c.729-17C>G (n.729-17C>G)
c.507-17C>G (n.507-17C>G)
c.168-17C>G (n.168-17C>G)
c.906-17C>G (n.906-17C>G)
c.801-17C>G (n.801-17C>G)
11g.64598499C>TCA6077205SLC22A12c.831-17C>T (n.831-17C>T)
c.729-17C>T (n.729-17C>T)
c.507-17C>T (n.507-17C>T)
c.168-17C>T (n.168-17C>T)
c.906-17C>T (n.906-17C>T)
c.801-17C>T (n.801-17C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64598500delCA2574863238SLC22A12c.831-16del (n.831-16del)
c.729-16del (n.729-16del)
c.507-16del (n.507-16del)
c.168-16del (n.168-16del)
c.906-16del (n.906-16del)
c.801-16del (n.801-16del)
 gnomAD v4
11g.64598500G>ACA6077207SLC22A12c.831-16G>A (n.831-16G>A)
c.729-16G>A (n.729-16G>A)
c.507-16G>A (n.507-16G>A)
c.168-16G>A (n.168-16G>A)
c.906-16G>A (n.906-16G>A)
c.801-16G>A (n.801-16G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64598500G>CCA599649171SLC22A12c.831-16G>C (n.831-16G>C)
c.729-16G>C (n.729-16G>C)
c.507-16G>C (n.507-16G>C)
c.168-16G>C (n.168-16G>C)
c.906-16G>C (n.906-16G>C)
c.801-16G>C (n.801-16G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.64598500G=CA1978798570SLC22A12c.831-16G= (n.831-16G=)
c.729-16G= (n.729-16G=)
c.507-16G= (n.507-16G=)
c.168-16G= (n.168-16G=)
c.906-16G= (n.906-16G=)
c.801-16G= (n.801-16G=)
11g.64598500G>TCA6077208SLC22A12c.831-16G>T (n.831-16G>T)
c.729-16G>T (n.729-16G>T)
c.507-16G>T (n.507-16G>T)
c.168-16G>T (n.168-16G>T)
c.906-16G>T (n.906-16G>T)
c.801-16G>T (n.801-16G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.64598501C>ACA599649177SLC22A12c.831-15C>A (n.831-15C>A)
c.729-15C>A (n.729-15C>A)
c.507-15C>A (n.507-15C>A)
c.168-15C>A (n.168-15C>A)
c.906-15C>A (n.906-15C>A)
c.801-15C>A (n.801-15C>A)
 dbSNP gnomAD v2 gnomAD v4
11g.64598501C=CA1978798572SLC22A12c.831-15C= (n.831-15C=)
c.729-15C= (n.729-15C=)
c.507-15C= (n.507-15C=)
c.168-15C= (n.168-15C=)
c.906-15C= (n.906-15C=)
c.801-15C= (n.801-15C=)
11g.64598501C>GCA6077209SLC22A12c.831-15C>G (n.831-15C>G)
c.729-15C>G (n.729-15C>G)
c.507-15C>G (n.507-15C>G)
c.168-15C>G (n.168-15C>G)
c.906-15C>G (n.906-15C>G)
c.801-15C>G (n.801-15C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64598505delCA2614173625SLC22A12c.831-11del (n.831-11del)
c.729-11del (n.729-11del)
c.507-11del (n.507-11del)
c.168-11del (n.168-11del)
c.906-11del (n.906-11del)
c.801-11del (n.801-11del)
 gnomAD v4
11g.64598502C>ACA2614173627SLC22A12c.831-14C>A (n.831-14C>A)
c.729-14C>A (n.729-14C>A)
c.507-14C>A (n.507-14C>A)
c.168-14C>A (n.168-14C>A)
c.906-14C>A (n.906-14C>A)
c.801-14C>A (n.801-14C>A)
 gnomAD v4
11g.64598502C>TCA2614173626SLC22A12c.831-14C>T (n.831-14C>T)
c.729-14C>T (n.729-14C>T)
c.507-14C>T (n.507-14C>T)
c.168-14C>T (n.168-14C>T)
c.906-14C>T (n.906-14C>T)
c.801-14C>T (n.801-14C>T)
 gnomAD v4
11g.64598503C>ACA599649182SLC22A12c.831-13C>A (n.831-13C>A)
c.729-13C>A (n.729-13C>A)
c.507-13C>A (n.507-13C>A)
c.168-13C>A (n.168-13C>A)
c.906-13C>A (n.906-13C>A)
c.801-13C>A (n.801-13C>A)
 dbSNP gnomAD v2 gnomAD v4
11g.64598503C=CA1978798575SLC22A12c.831-13C= (n.831-13C=)
c.729-13C= (n.729-13C=)
c.507-13C= (n.507-13C=)
c.168-13C= (n.168-13C=)
c.906-13C= (n.906-13C=)
c.801-13C= (n.801-13C=)
11g.64598503C>TCA599649184SLC22A12c.831-13C>T (n.831-13C>T)
c.729-13C>T (n.729-13C>T)
c.507-13C>T (n.507-13C>T)
c.168-13C>T (n.168-13C>T)
c.906-13C>T (n.906-13C>T)
c.801-13C>T (n.801-13C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.64598504C>ACA2614173628SLC22A12c.831-12C>A (n.831-12C>A)
c.729-12C>A (n.729-12C>A)
c.507-12C>A (n.507-12C>A)
c.168-12C>A (n.168-12C>A)
c.906-12C>A (n.906-12C>A)
c.801-12C>A (n.801-12C>A)
 gnomAD v4
11g.64598504C>TCA2614173629SLC22A12c.831-12C>T (n.831-12C>T)
c.729-12C>T (n.729-12C>T)
c.507-12C>T (n.507-12C>T)
c.168-12C>T (n.168-12C>T)
c.906-12C>T (n.906-12C>T)
c.801-12C>T (n.801-12C>T)
 gnomAD v4
11g.64598505C>ACA599649185SLC22A12c.831-11C>A (n.831-11C>A)
c.729-11C>A (n.729-11C>A)
c.507-11C>A (n.507-11C>A)
c.168-11C>A (n.168-11C>A)
c.906-11C>A (n.906-11C>A)
c.801-11C>A (n.801-11C>A)
 dbSNP gnomAD v2 gnomAD v4
11g.64598505C=CA1978798579SLC22A12c.831-11C= (n.831-11C=)
c.729-11C= (n.729-11C=)
c.507-11C= (n.507-11C=)
c.168-11C= (n.168-11C=)
c.906-11C= (n.906-11C=)
c.801-11C= (n.801-11C=)
11g.64598505C>TCA2614173630SLC22A12c.831-11C>T (n.831-11C>T)
c.729-11C>T (n.729-11C>T)
c.507-11C>T (n.507-11C>T)
c.168-11C>T (n.168-11C>T)
c.906-11C>T (n.906-11C>T)
c.801-11C>T (n.801-11C>T)
 gnomAD v4
11g.64598506T>ACA2614173631SLC22A12c.831-10T>A (n.831-10T>A)
c.729-10T>A (n.729-10T>A)
c.507-10T>A (n.507-10T>A)
c.168-10T>A (n.168-10T>A)
c.906-10T>A (n.906-10T>A)
c.801-10T>A (n.801-10T>A)
 gnomAD v4
11g.64598506T>CCA2614173632SLC22A12c.831-10T>C (n.831-10T>C)
c.729-10T>C (n.729-10T>C)
c.507-10T>C (n.507-10T>C)
c.168-10T>C (n.168-10T>C)
c.906-10T>C (n.906-10T>C)
c.801-10T>C (n.801-10T>C)
 gnomAD v4
11g.64598506T>GCA223870798SLC22A12c.831-10T>G (n.831-10T>G)
c.729-10T>G (n.729-10T>G)
c.507-10T>G (n.507-10T>G)
c.168-10T>G (n.168-10T>G)
c.906-10T>G (n.906-10T>G)
c.801-10T>G (n.801-10T>G)
 dbSNP gnomAD v2 gnomAD v4
11g.64598506T=CA1978798584SLC22A12c.831-10T= (n.831-10T=)
c.729-10T= (n.729-10T=)
c.507-10T= (n.507-10T=)
c.168-10T= (n.168-10T=)
c.906-10T= (n.906-10T=)
c.801-10T= (n.801-10T=)
11g.64598507C>ACA2614173633SLC22A12c.831-9C>A (n.831-9C>A)
c.729-9C>A (n.729-9C>A)
c.507-9C>A (n.507-9C>A)
c.168-9C>A (n.168-9C>A)
c.906-9C>A (n.906-9C>A)
c.801-9C>A (n.801-9C>A)
 gnomAD v4
11g.64598507C=CA1978798585SLC22A12c.831-9C= (n.831-9C=)
c.729-9C= (n.729-9C=)
c.507-9C= (n.507-9C=)
c.168-9C= (n.168-9C=)
c.906-9C= (n.906-9C=)
c.801-9C= (n.801-9C=)
11g.64598507C>TCA599649187SLC22A12c.831-9C>T (n.831-9C>T)
c.729-9C>T (n.729-9C>T)
c.507-9C>T (n.507-9C>T)
c.168-9C>T (n.168-9C>T)
c.906-9C>T (n.906-9C>T)
c.801-9C>T (n.801-9C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.64598508C>ACA2614173634SLC22A12c.831-8C>A (n.831-8C>A)
c.729-8C>A (n.729-8C>A)
c.507-8C>A (n.507-8C>A)
c.168-8C>A (n.168-8C>A)
c.906-8C>A (n.906-8C>A)
c.801-8C>A (n.801-8C>A)
 gnomAD v4
11g.64598508C=CA1978798586SLC22A12c.831-8C= (n.831-8C=)
c.729-8C= (n.729-8C=)
c.507-8C= (n.507-8C=)
c.168-8C= (n.168-8C=)
c.906-8C= (n.906-8C=)
c.801-8C= (n.801-8C=)
11g.64598508C>GCA2614173635SLC22A12c.831-8C>G (n.831-8C>G)
c.729-8C>G (n.729-8C>G)
c.507-8C>G (n.507-8C>G)
c.168-8C>G (n.168-8C>G)
c.906-8C>G (n.906-8C>G)
c.801-8C>G (n.801-8C>G)
 gnomAD v4
11g.64598508C>TCA599649189SLC22A12c.831-8C>T (n.831-8C>T)
c.729-8C>T (n.729-8C>T)
c.507-8C>T (n.507-8C>T)
c.168-8C>T (n.168-8C>T)
c.906-8C>T (n.906-8C>T)
c.801-8C>T (n.801-8C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.64598509A>CCA2614173636SLC22A12c.831-7A>C (n.831-7A>C)
c.729-7A>C (n.729-7A>C)
c.507-7A>C (n.507-7A>C)
c.168-7A>C (n.168-7A>C)
c.906-7A>C (n.906-7A>C)
c.801-7A>C (n.801-7A>C)
 gnomAD v4
11g.64598509A>GCA2614173637SLC22A12c.831-7A>G (n.831-7A>G)
c.729-7A>G (n.729-7A>G)
c.507-7A>G (n.507-7A>G)
c.168-7A>G (n.168-7A>G)
c.906-7A>G (n.906-7A>G)
c.801-7A>G (n.801-7A>G)
 gnomAD v4
11g.64598510C=CA1978798587SLC22A12c.831-6C= (n.831-6C=)
c.729-6C= (n.729-6C=)
c.507-6C= (n.507-6C=)
c.168-6C= (n.168-6C=)
c.906-6C= (n.906-6C=)
c.801-6C= (n.801-6C=)
11g.64598510C>TCA599649191SLC22A12c.831-6C>T (n.831-6C>T)
c.729-6C>T (n.729-6C>T)
c.507-6C>T (n.507-6C>T)
c.168-6C>T (n.168-6C>T)
c.906-6C>T (n.906-6C>T)
c.801-6C>T (n.801-6C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.64598511T>GCA2614173638SLC22A12c.831-5T>G (n.831-5T>G)
c.729-5T>G (n.729-5T>G)
c.507-5T>G (n.507-5T>G)
c.168-5T>G (n.168-5T>G)
c.906-5T>G (n.906-5T>G)
c.801-5T>G (n.801-5T>G)
 gnomAD v4
11g.64598512T>CCA6077210SLC22A12c.831-4T>C (n.831-4T>C)
c.729-4T>C (n.729-4T>C)
c.507-4T>C (n.507-4T>C)
c.168-4T>C (n.168-4T>C)
c.906-4T>C (n.906-4T>C)
c.801-4T>C (n.801-4T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64598512T=CA1978798591SLC22A12c.831-4T= (n.831-4T=)
c.729-4T= (n.729-4T=)
c.507-4T= (n.507-4T=)
c.168-4T= (n.168-4T=)
c.906-4T= (n.906-4T=)
c.801-4T= (n.801-4T=)
11g.64598514A>CCA381125352SLC22A12c.831-2A>C (n.831-2A>C)
c.729-2A>C (n.729-2A>C)
c.507-2A>C (n.507-2A>C)
c.168-2A>C (n.168-2A>C)
c.906-2A>C (n.906-2A>C)
c.801-2A>C (n.801-2A>C)
11g.64598514A>GCA381125348SLC22A12c.831-2A>G (n.831-2A>G)
c.729-2A>G (n.729-2A>G)
c.507-2A>G (n.507-2A>G)
c.168-2A>G (n.168-2A>G)
c.906-2A>G (n.906-2A>G)
c.801-2A>G (n.801-2A>G)
11g.64598514A>TCA381125346SLC22A12c.831-2A>T (n.831-2A>T)
c.729-2A>T (n.729-2A>T)
c.507-2A>T (n.507-2A>T)
c.168-2A>T (n.168-2A>T)
c.906-2A>T (n.906-2A>T)
c.801-2A>T (n.801-2A>T)
11g.64598515G>ACA381125354SLC22A12c.831-1G>A (n.831-1G>A)
c.729-1G>A (n.729-1G>A)
c.507-1G>A (n.507-1G>A)
c.168-1G>A (n.168-1G>A)
c.906-1G>A (n.906-1G>A)
c.801-1G>A (n.801-1G>A)
 gnomAD v4
11g.64598515G>CCA381125356SLC22A12c.831-1G>C (n.831-1G>C)
c.729-1G>C (n.729-1G>C)
c.507-1G>C (n.507-1G>C)
c.168-1G>C (n.168-1G>C)
c.906-1G>C (n.906-1G>C)
c.801-1G>C (n.801-1G>C)
11g.64598515G>TCA381125355SLC22A12c.831-1G>T (n.831-1G>T)
c.729-1G>T (n.729-1G>T)
c.507-1G>T (n.507-1G>T)
c.168-1G>T (n.168-1G>T)
c.906-1G>T (n.906-1G>T)
c.801-1G>T (n.801-1G>T)
 gnomAD v4
11g.64598516G>ACA381125358SLC22A12c.831G>A (p.Trp277Ter)
c.729G>A (p.Trp243Ter)
c.507G>A (p.Arg169=)
c.168G>A (p.Trp56Ter)
c.906G>A (p.Trp302Ter)
c.801G>A (p.Trp267Ter)
11g.64598516G>CCA381125363SLC22A12c.831G>C (p.Trp277Cys)
c.729G>C (p.Trp243Cys)
c.507G>C (p.Arg169Ser)
c.168G>C (p.Trp56Cys)
c.906G>C (p.Trp302Cys)
c.801G>C (p.Trp267Cys)
11g.64598516G>TCA381125359SLC22A12c.831G>T (p.Trp277Cys)
c.729G>T (p.Trp243Cys)
c.507G>T (p.Arg169Ser)
c.168G>T (p.Trp56Cys)
c.906G>T (p.Trp302Cys)
c.801G>T (p.Trp267Cys)
 gnomAD v4
11g.64598517T>ACA381125366SLC22A12c.832T>A (p.Trp278Arg)
c.730T>A (p.Trp244Arg)
c.508T>A (p.Trp170Arg)
c.169T>A (p.Trp57Arg)
c.907T>A (p.Trp303Arg)
c.802T>A (p.Trp268Arg)
11g.64598517T>CCA381125379SLC22A12c.832T>C (p.Trp278Arg)
c.730T>C (p.Trp244Arg)
c.508T>C (p.Trp170Arg)
c.169T>C (p.Trp57Arg)
c.907T>C (p.Trp303Arg)
c.802T>C (p.Trp268Arg)
 COSMIC
11g.64598517T>GCA381125369SLC22A12c.832T>G (p.Trp278Gly)
c.730T>G (p.Trp244Gly)
c.508T>G (p.Trp170Gly)
c.169T>G (p.Trp57Gly)
c.907T>G (p.Trp303Gly)
c.802T>G (p.Trp268Gly)
11g.64598518G>ACA381125382SLC22A12c.833G>A (p.Trp278Ter)
c.731G>A (p.Trp244Ter)
c.509G>A (p.Trp170Ter)
c.170G>A (p.Trp57Ter)
c.908G>A (p.Trp303Ter)
c.803G>A (p.Trp268Ter)
11g.64598518G>CCA381125385SLC22A12c.833G>C (p.Trp278Ser)
c.731G>C (p.Trp244Ser)
c.509G>C (p.Trp170Ser)
c.170G>C (p.Trp57Ser)
c.908G>C (p.Trp303Ser)
c.803G>C (p.Trp268Ser)
11g.64598518G>TCA381125387SLC22A12c.833G>T (p.Trp278Leu)
c.731G>T (p.Trp244Leu)
c.509G>T (p.Trp170Leu)
c.170G>T (p.Trp57Leu)
c.908G>T (p.Trp303Leu)
c.803G>T (p.Trp268Leu)
 gnomAD v4
11g.64598519G>ACA381125392SLC22A12c.834G>A (p.Trp278Ter)
c.732G>A (p.Trp244Ter)
c.510G>A (p.Trp170Ter)
c.171G>A (p.Trp57Ter)
c.909G>A (p.Trp303Ter)
c.804G>A (p.Trp268Ter)
 gnomAD v4
11g.64598519G>CCA381125397SLC22A12c.834G>C (p.Trp278Cys)
c.732G>C (p.Trp244Cys)
c.510G>C (p.Trp170Cys)
c.171G>C (p.Trp57Cys)
c.909G>C (p.Trp303Cys)
c.804G>C (p.Trp268Cys)
11g.64598519G=CA1978798595SLC22A12c.834G= (p.Trp278=)
c.732G= (p.Trp244=)
c.510G= (p.Trp170=)
c.171G= (p.Trp57=)
c.909G= (p.Trp303=)
c.804G= (p.Trp268=)
11g.64598519G>TCA223870831SLC22A12c.834G>T (p.Trp278Cys)
c.732G>T (p.Trp244Cys)
c.510G>T (p.Trp170Cys)
c.171G>T (p.Trp57Cys)
c.909G>T (p.Trp303Cys)
c.804G>T (p.Trp268Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.64598519_64598520insAGGGGCACCTTAAGCA2614173639SLC22A12c.834_835insAGGGGCACCTTAAG (p.Leu279ArgfsTer?)
c.732_733insAGGGGCACCTTAAG (p.Leu245ArgfsTer?)
c.510_511insAGGGGCACCTTAAG (p.Leu171ArgfsTer?)
c.171_172insAGGGGCACCTTAAG (p.Leu58ArgfsTer?)
c.909_910insAGGGGCACCTTAAG (p.Leu304ArgfsTer?)
c.804_805insAGGGGCACCTTAAG (p.Leu269ArgfsTer?)
 gnomAD v4
11g.64598520C>ACA381125399SLC22A12c.835C>A (p.Leu279Met)
c.733C>A (p.Leu245Met)
c.511C>A (p.Leu171Met)
c.172C>A (p.Leu58Met)
c.910C>A (p.Leu304Met)
c.805C>A (p.Leu269Met)
 gnomAD v4
11g.64598520C>GCA381125402SLC22A12c.835C>G (p.Leu279Val)
c.733C>G (p.Leu245Val)
c.511C>G (p.Leu171Val)
c.172C>G (p.Leu58Val)
c.910C>G (p.Leu304Val)
c.805C>G (p.Leu269Val)
11g.64598520C>TCA474956033SLC22A12c.835C>T (p.Leu279=)
c.733C>T (p.Leu245=)
c.511C>T (p.Leu171=)
c.172C>T (p.Leu58=)
c.910C>T (p.Leu304=)
c.805C>T (p.Leu269=)
 gnomAD v4
11g.64598521T>ACA381125412SLC22A12c.836T>A (p.Leu279Gln)
c.734T>A (p.Leu245Gln)
c.512T>A (p.Leu171Gln)
c.173T>A (p.Leu58Gln)
c.911T>A (p.Leu304Gln)
c.806T>A (p.Leu269Gln)
11g.64598521T>CCA381125416SLC22A12c.836T>C (p.Leu279Pro)
c.734T>C (p.Leu245Pro)
c.512T>C (p.Leu171Pro)
c.173T>C (p.Leu58Pro)
c.911T>C (p.Leu304Pro)
c.806T>C (p.Leu269Pro)
 gnomAD v4
11g.64598521T>GCA381125422SLC22A12c.836T>G (p.Leu279Arg)
c.734T>G (p.Leu245Arg)
c.512T>G (p.Leu171Arg)
c.173T>G (p.Leu58Arg)
c.911T>G (p.Leu304Arg)
c.806T>G (p.Leu269Arg)
11g.64598522G>ACA474956036SLC22A12c.837G>A (p.Leu279=)
c.735G>A (p.Leu245=)
c.513G>A (p.Leu171=)
c.174G>A (p.Leu58=)
c.912G>A (p.Leu304=)
c.807G>A (p.Leu269=)
11g.64598522G>CCA474956039SLC22A12c.837G>C (p.Leu279=)
c.735G>C (p.Leu245=)
c.513G>C (p.Leu171=)
c.174G>C (p.Leu58=)
c.912G>C (p.Leu304=)
c.807G>C (p.Leu269=)
11g.64598522G>TCA474956041SLC22A12c.837G>T (p.Leu279=)
c.735G>T (p.Leu245=)
c.513G>T (p.Leu171=)
c.174G>T (p.Leu58=)
c.912G>T (p.Leu304=)
c.807G>T (p.Leu269=)
11g.64598523G>ACA381125433SLC22A12c.838G>A (p.Ala280Thr)
c.736G>A (p.Ala246Thr)
c.514G>A (p.Ala172Thr)
c.175G>A (p.Ala59Thr)
c.913G>A (p.Ala305Thr)
c.808G>A (p.Ala270Thr)
 gnomAD v4
11g.64598523G>CCA381125429SLC22A12c.838G>C (p.Ala280Pro)
c.736G>C (p.Ala246Pro)
c.514G>C (p.Ala172Pro)
c.175G>C (p.Ala59Pro)
c.913G>C (p.Ala305Pro)
c.808G>C (p.Ala270Pro)
11g.64598523G>TCA381125427SLC22A12c.838G>T (p.Ala280Ser)
c.736G>T (p.Ala246Ser)
c.514G>T (p.Ala172Ser)
c.175G>T (p.Ala59Ser)
c.913G>T (p.Ala305Ser)
c.808G>T (p.Ala270Ser)
11g.64598524C>ACA381125435SLC22A12c.839C>A (p.Ala280Glu)
c.737C>A (p.Ala246Glu)
c.515C>A (p.Ala172Glu)
c.176C>A (p.Ala59Glu)
c.914C>A (p.Ala305Glu)
c.809C>A (p.Ala270Glu)
 gnomAD v4
11g.64598524C=CA1978798600SLC22A12c.839C= (p.Ala280=)
c.737C= (p.Ala246=)
c.515C= (p.Ala172=)
c.176C= (p.Ala59=)
c.914C= (p.Ala305=)
c.809C= (p.Ala270=)
11g.64598524C>GCA381125439SLC22A12c.839C>G (p.Ala280Gly)
c.737C>G (p.Ala246Gly)
c.515C>G (p.Ala172Gly)
c.176C>G (p.Ala59Gly)
c.914C>G (p.Ala305Gly)
c.809C>G (p.Ala270Gly)
11g.64598524C>TCA381125444SLC22A12c.839C>T (p.Ala280Val)
c.737C>T (p.Ala246Val)
c.515C>T (p.Ala172Val)
c.176C>T (p.Ala59Val)
c.914C>T (p.Ala305Val)
c.809C>T (p.Ala270Val)
 dbSNP gnomAD v2 gnomAD v4
11g.64598525A=CA1978798602SLC22A12c.840A= (p.Ala280=)
c.738A= (p.Ala246=)
c.516A= (p.Ala172=)
c.177A= (p.Ala59=)
c.915A= (p.Ala305=)
c.810A= (p.Ala270=)
11g.64598525A>CCA6077211SLC22A12c.840A>C (p.Ala280=)
c.738A>C (p.Ala246=)
c.516A>C (p.Ala172=)
c.177A>C (p.Ala59=)
c.915A>C (p.Ala305=)
c.810A>C (p.Ala270=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.64598525A>GCA474956048SLC22A12c.840A>G (p.Ala280=)
c.738A>G (p.Ala246=)
c.516A>G (p.Ala172=)
c.177A>G (p.Ala59=)
c.915A>G (p.Ala305=)
c.810A>G (p.Ala270=)
 dbSNP gnomAD v4
11g.64598525A>TCA474956050SLC22A12c.840A>T (p.Ala280=)
c.738A>T (p.Ala246=)
c.516A>T (p.Ala172=)
c.177A>T (p.Ala59=)
c.915A>T (p.Ala305=)
c.810A>T (p.Ala270=)
11g.64598527_64598528delCA2574863239SLC22A12c.842_843del (p.Glu281ValfsTer?)
c.740_741del (p.Glu247ValfsTer?)
c.518_519del (p.Glu173ValfsTer?)
c.179_180del (p.Glu60ValfsTer?)
c.917_918del (p.Glu306ValfsTer?)
c.812_813del (p.Glu271ValfsTer?)
 gnomAD v4
11g.64598526G>ACA6077212SLC22A12c.841G>A (p.Glu281Lys)
c.739G>A (p.Glu247Lys)
c.517G>A (p.Glu173Lys)
c.178G>A (p.Glu60Lys)
c.916G>A (p.Glu306Lys)
c.811G>A (p.Glu271Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.64598526G>CCA381125455SLC22A12c.841G>C (p.Glu281Gln)
c.739G>C (p.Glu247Gln)
c.517G>C (p.Glu173Gln)
c.178G>C (p.Glu60Gln)
c.916G>C (p.Glu306Gln)
c.811G>C (p.Glu271Gln)
11g.64598526G=CA1978798607SLC22A12c.841G= (p.Glu281=)
c.739G= (p.Glu247=)
c.517G= (p.Glu173=)
c.178G= (p.Glu60=)
c.916G= (p.Glu306=)
c.811G= (p.Glu271=)
11g.64598526G>TCA381125459SLC22A12c.841G>T (p.Glu281Ter)
c.739G>T (p.Glu247Ter)
c.517G>T (p.Glu173Ter)
c.178G>T (p.Glu60Ter)
c.916G>T (p.Glu306Ter)
c.811G>T (p.Glu271Ter)
 gnomAD v4
11g.64598527A=CA1978798609SLC22A12c.842A= (p.Glu281=)
c.740A= (p.Glu247=)
c.518A= (p.Glu173=)
c.179A= (p.Glu60=)
c.917A= (p.Glu306=)
c.812A= (p.Glu271=)
11g.64598527A>CCA381125465SLC22A12c.842A>C (p.Glu281Ala)
c.740A>C (p.Glu247Ala)
c.518A>C (p.Glu173Ala)
c.179A>C (p.Glu60Ala)
c.917A>C (p.Glu306Ala)
c.812A>C (p.Glu271Ala)
11g.64598527A>GCA381125468SLC22A12c.842A>G (p.Glu281Gly)
c.740A>G (p.Glu247Gly)
c.518A>G (p.Glu173Gly)
c.179A>G (p.Glu60Gly)
c.917A>G (p.Glu306Gly)
c.812A>G (p.Glu271Gly)
11g.64598527A>TCA381125475SLC22A12c.842A>T (p.Glu281Val)
c.740A>T (p.Glu247Val)
c.518A>T (p.Glu173Val)
c.179A>T (p.Glu60Val)
c.917A>T (p.Glu306Val)
c.812A>T (p.Glu271Val)
 dbSNP gnomAD v4
11g.64598528G>ACA474956054SLC22A12c.843G>A (p.Glu281=)
c.741G>A (p.Glu247=)
c.519G>A (p.Glu173=)
c.180G>A (p.Glu60=)
c.918G>A (p.Glu306=)
c.813G>A (p.Glu271=)
 gnomAD v4
11g.64598528G>CCA381125482SLC22A12c.843G>C (p.Glu281Asp)
c.741G>C (p.Glu247Asp)
c.519G>C (p.Glu173Asp)
c.180G>C (p.Glu60Asp)
c.918G>C (p.Glu306Asp)
c.813G>C (p.Glu271Asp)
11g.64598528G>TCA381125485SLC22A12c.843G>T (p.Glu281Asp)
c.741G>T (p.Glu247Asp)
c.519G>T (p.Glu173Asp)
c.180G>T (p.Glu60Asp)
c.918G>T (p.Glu306Asp)
c.813G>T (p.Glu271Asp)
11g.64598529T>ACA381125497SLC22A12c.844T>A (p.Ser282Thr)
c.742T>A (p.Ser248Thr)
c.520T>A (p.Ser174Thr)
c.181T>A (p.Ser61Thr)
c.919T>A (p.Ser307Thr)
c.814T>A (p.Ser272Thr)
 dbSNP gnomAD v4
11g.64598529T>CCA381125495SLC22A12c.844T>C (p.Ser282Pro)
c.742T>C (p.Ser248Pro)
c.520T>C (p.Ser174Pro)
c.181T>C (p.Ser61Pro)
c.919T>C (p.Ser307Pro)
c.814T>C (p.Ser272Pro)
 gnomAD v4
11g.64598529T>GCA381125491SLC22A12c.844T>G (p.Ser282Ala)
c.742T>G (p.Ser248Ala)
c.520T>G (p.Ser174Ala)
c.181T>G (p.Ser61Ala)
c.919T>G (p.Ser307Ala)
c.814T>G (p.Ser272Ala)
11g.64598529T=CA1978798611SLC22A12c.844T= (p.Ser282=)
c.742T= (p.Ser248=)
c.520T= (p.Ser174=)
c.181T= (p.Ser61=)
c.919T= (p.Ser307=)
c.814T= (p.Ser272=)
11g.64598530C>ACA381125503SLC22A12c.845C>A (p.Ser282Ter)
c.743C>A (p.Ser248Ter)
c.521C>A (p.Ser174Ter)
c.182C>A (p.Ser61Ter)
c.920C>A (p.Ser307Ter)
c.815C>A (p.Ser272Ter)
 gnomAD v4
11g.64598530C=CA1978798616SLC22A12c.845C= (p.Ser282=)
c.743C= (p.Ser248=)
c.521C= (p.Ser174=)
c.182C= (p.Ser61=)
c.920C= (p.Ser307=)
c.815C= (p.Ser272=)
11g.64598530C>GCA381125499SLC22A12c.845C>G (p.Ser282Trp)
c.743C>G (p.Ser248Trp)
c.521C>G (p.Ser174Trp)
c.182C>G (p.Ser61Trp)
c.920C>G (p.Ser307Trp)
c.815C>G (p.Ser272Trp)
11g.64598530C>TCA6077213SLC22A12c.845C>T (p.Ser282Leu)
c.743C>T (p.Ser248Leu)
c.521C>T (p.Ser174Leu)
c.182C>T (p.Ser61Leu)
c.920C>T (p.Ser307Leu)
c.815C>T (p.Ser272Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64598531G>ACA6077214SLC22A12c.846G>A (p.Ser282=)
c.744G>A (p.Ser248=)
c.522G>A (p.Ser174=)
c.183G>A (p.Ser61=)
c.921G>A (p.Ser307=)
c.816G>A (p.Ser272=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.64598531G>CCA223870851SLC22A12c.846G>C (p.Ser282=)
c.744G>C (p.Ser248=)
c.522G>C (p.Ser174=)
c.183G>C (p.Ser61=)
c.921G>C (p.Ser307=)
c.816G>C (p.Ser272=)
 dbSNP
11g.64598531G=CA1978798620SLC22A12c.846G= (p.Ser282=)
c.744G= (p.Ser248=)
c.522G= (p.Ser174=)
c.183G= (p.Ser61=)
c.921G= (p.Ser307=)
c.816G= (p.Ser272=)
11g.64598531G>TCA474956062SLC22A12c.846G>T (p.Ser282=)
c.744G>T (p.Ser248=)
c.522G>T (p.Ser174=)
c.183G>T (p.Ser61=)
c.921G>T (p.Ser307=)
c.816G>T (p.Ser272=)
 gnomAD v4
11g.64598532G>ACA381125517SLC22A12c.847G>A (p.Ala283Thr)
c.745G>A (p.Ala249Thr)
c.523G>A (p.Ala175Thr)
c.184G>A (p.Ala62Thr)
c.922G>A (p.Ala308Thr)
c.817G>A (p.Ala273Thr)
 dbSNP gnomAD v4
11g.64598532G>CCA381125521SLC22A12c.847G>C (p.Ala283Pro)
c.745G>C (p.Ala249Pro)
c.523G>C (p.Ala175Pro)
c.184G>C (p.Ala62Pro)
c.922G>C (p.Ala308Pro)
c.817G>C (p.Ala273Pro)
11g.64598532G=CA1978798630SLC22A12c.847G= (p.Ala283=)
c.745G= (p.Ala249=)
c.523G= (p.Ala175=)
c.184G= (p.Ala62=)
c.922G= (p.Ala308=)
c.817G= (p.Ala273=)
11g.64598532G>TCA381125528SLC22A12c.847G>T (p.Ala283Ser)
c.745G>T (p.Ala249Ser)
c.523G>T (p.Ala175Ser)
c.184G>T (p.Ala62Ser)
c.922G>T (p.Ala308Ser)
c.817G>T (p.Ala273Ser)
 gnomAD v4
11g.64598533C>ACA381125539SLC22A12c.848C>A (p.Ala283Glu)
c.746C>A (p.Ala249Glu)
c.524C>A (p.Ala175Glu)
c.185C>A (p.Ala62Glu)
c.923C>A (p.Ala308Glu)
c.818C>A (p.Ala273Glu)
 gnomAD v4
11g.64598533C>GCA381125552SLC22A12c.848C>G (p.Ala283Gly)
c.746C>G (p.Ala249Gly)
c.524C>G (p.Ala175Gly)
c.185C>G (p.Ala62Gly)
c.923C>G (p.Ala308Gly)
c.818C>G (p.Ala273Gly)
 COSMIC
11g.64598533C>TCA381125554SLC22A12c.848C>T (p.Ala283Val)
c.746C>T (p.Ala249Val)
c.524C>T (p.Ala175Val)
c.185C>T (p.Ala62Val)
c.923C>T (p.Ala308Val)
c.818C>T (p.Ala273Val)
11g.64598534A>CCA474956070SLC22A12c.849A>C (p.Ala283=)
c.747A>C (p.Ala249=)
c.525A>C (p.Ala175=)
c.186A>C (p.Ala62=)
c.924A>C (p.Ala308=)
c.819A>C (p.Ala273=)
11g.64598534A>GCA474956071SLC22A12c.849A>G (p.Ala283=)
c.747A>G (p.Ala249=)
c.525A>G (p.Ala175=)
c.186A>G (p.Ala62=)
c.924A>G (p.Ala308=)
c.819A>G (p.Ala273=)
11g.64598534A>TCA474956069SLC22A12c.849A>T (p.Ala283=)
c.747A>T (p.Ala249=)
c.525A>T (p.Ala175=)
c.186A>T (p.Ala62=)
c.924A>T (p.Ala308=)
c.819A>T (p.Ala273=)
11g.64598535C>ACA474956073SLC22A12c.850C>A (p.Arg284=)
c.748C>A (p.Arg250=)
c.526C>A (p.Arg176=)
c.187C>A (p.Arg63=)
c.925C>A (p.Arg309=)
c.820C>A (p.Arg274=)
 gnomAD v4
11g.64598535C=CA1978798645SLC22A12c.850C= (p.Arg284=)
c.748C= (p.Arg250=)
c.526C= (p.Arg176=)
c.187C= (p.Arg63=)
c.925C= (p.Arg309=)
c.820C= (p.Arg274=)
11g.64598535C>GCA381125557SLC22A12c.850C>G (p.Arg284Gly)
c.748C>G (p.Arg250Gly)
c.526C>G (p.Arg176Gly)
c.187C>G (p.Arg63Gly)
c.925C>G (p.Arg309Gly)
c.820C>G (p.Arg274Gly)
11g.64598535C>TCA6077215SLC22A12c.850C>T (p.Arg284Ter)
c.748C>T (p.Arg250Ter)
c.526C>T (p.Arg176Ter)
c.187C>T (p.Arg63Ter)
c.925C>T (p.Arg309Ter)
c.820C>T (p.Arg274Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64598536G>ACA223870859SLC22A12c.851G>A (p.Arg284Gln)
c.749G>A (p.Arg250Gln)
c.527G>A (p.Arg176Gln)
c.188G>A (p.Arg63Gln)
c.926G>A (p.Arg309Gln)
c.821G>A (p.Arg274Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.64598536G>CCA381125578SLC22A12c.851G>C (p.Arg284Pro)
c.749G>C (p.Arg250Pro)
c.527G>C (p.Arg176Pro)
c.188G>C (p.Arg63Pro)
c.926G>C (p.Arg309Pro)
c.821G>C (p.Arg274Pro)
11g.64598536G=CA1978798650SLC22A12c.851G= (p.Arg284=)
c.749G= (p.Arg250=)
c.527G= (p.Arg176=)
c.188G= (p.Arg63=)
c.926G= (p.Arg309=)
c.821G= (p.Arg274=)
11g.64598536G>TCA381125572SLC22A12c.851G>T (p.Arg284Leu)
c.749G>T (p.Arg250Leu)
c.527G>T (p.Arg176Leu)
c.188G>T (p.Arg63Leu)
c.926G>T (p.Arg309Leu)
c.821G>T (p.Arg274Leu)
11g.64598537A=CA1978798652SLC22A12c.852A= (p.Arg284=)
c.750A= (p.Arg250=)
c.528A= (p.Arg176=)
c.189A= (p.Arg63=)
c.927A= (p.Arg309=)
c.822A= (p.Arg274=)
11g.64598537A>CCA474956079SLC22A12c.852A>C (p.Arg284=)
c.750A>C (p.Arg250=)
c.528A>C (p.Arg176=)
c.189A>C (p.Arg63=)
c.927A>C (p.Arg309=)
c.822A>C (p.Arg274=)
11g.64598537A>GCA223870866SLC22A12c.852A>G (p.Arg284=)
c.750A>G (p.Arg250=)
c.528A>G (p.Arg176=)
c.189A>G (p.Arg63=)
c.927A>G (p.Arg309=)
c.822A>G (p.Arg274=)
 dbSNP gnomAD v4
11g.64598537A>TCA474956081SLC22A12c.852A>T (p.Arg284=)
c.750A>T (p.Arg250=)
c.528A>T (p.Arg176=)
c.189A>T (p.Arg63=)
c.927A>T (p.Arg309=)
c.822A>T (p.Arg274=)
 dbSNP gnomAD v2
11g.64598538T>ACA381125603SLC22A12c.853T>A (p.Trp285Arg)
c.751T>A (p.Trp251Arg)
c.529T>A (p.Trp177Arg)
c.190T>A (p.Trp64Arg)
c.928T>A (p.Trp310Arg)
c.823T>A (p.Trp275Arg)
11g.64598538T>CCA381125605SLC22A12c.853T>C (p.Trp285Arg)
c.751T>C (p.Trp251Arg)
c.529T>C (p.Trp177Arg)
c.190T>C (p.Trp64Arg)
c.928T>C (p.Trp310Arg)
c.823T>C (p.Trp275Arg)
 dbSNP gnomAD v3 gnomAD v4
11g.64598538T>GCA381125609SLC22A12c.853T>G (p.Trp285Gly)
c.751T>G (p.Trp251Gly)
c.529T>G (p.Trp177Gly)
c.190T>G (p.Trp64Gly)
c.928T>G (p.Trp310Gly)
c.823T>G (p.Trp275Gly)
11g.64598538T=CA1978798656SLC22A12c.853T= (p.Trp285=)
c.751T= (p.Trp251=)
c.529T= (p.Trp177=)
c.190T= (p.Trp64=)
c.928T= (p.Trp310=)
c.823T= (p.Trp275=)
11g.64598539G>ACA381125617SLC22A12c.854G>A (p.Trp285Ter)
c.752G>A (p.Trp251Ter)
c.530G>A (p.Trp177Ter)
c.191G>A (p.Trp64Ter)
c.929G>A (p.Trp310Ter)
c.824G>A (p.Trp275Ter)
11g.64598539G>CCA381125621SLC22A12c.854G>C (p.Trp285Ser)
c.752G>C (p.Trp251Ser)
c.530G>C (p.Trp177Ser)
c.191G>C (p.Trp64Ser)
c.929G>C (p.Trp310Ser)
c.824G>C (p.Trp275Ser)
11g.64598539G=CA1978798660SLC22A12c.854G= (p.Trp285=)
c.752G= (p.Trp251=)
c.530G= (p.Trp177=)
c.191G= (p.Trp64=)
c.929G= (p.Trp310=)
c.824G= (p.Trp275=)
11g.64598539G>TCA381125622SLC22A12c.854G>T (p.Trp285Leu)
c.752G>T (p.Trp251Leu)
c.530G>T (p.Trp177Leu)
c.191G>T (p.Trp64Leu)
c.929G>T (p.Trp310Leu)
c.824G>T (p.Trp275Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.64598540G>ACA6077217SLC22A12c.855G>A (p.Trp285Ter)
c.753G>A (p.Trp251Ter)
c.531G>A (p.Trp177Ter)
c.192G>A (p.Trp64Ter)
c.930G>A (p.Trp310Ter)
c.825G>A (p.Trp275Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.64598540G>CCA381125626SLC22A12c.855G>C (p.Trp285Cys)
c.753G>C (p.Trp251Cys)
c.531G>C (p.Trp177Cys)
c.192G>C (p.Trp64Cys)
c.930G>C (p.Trp310Cys)
c.825G>C (p.Trp275Cys)
11g.64598540G=CA1978798665SLC22A12c.855G= (p.Trp285=)
c.753G= (p.Trp251=)
c.531G= (p.Trp177=)
c.192G= (p.Trp64=)
c.930G= (p.Trp310=)
c.825G= (p.Trp275=)
11g.64598540G>TCA6077216SLC22A12c.855G>T (p.Trp285Cys)
c.753G>T (p.Trp251Cys)
c.531G>T (p.Trp177Cys)
c.192G>T (p.Trp64Cys)
c.930G>T (p.Trp310Cys)
c.825G>T (p.Trp275Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64598541C>ACA381125631SLC22A12c.856C>A (p.Leu286Ile)
c.754C>A (p.Leu252Ile)
c.532C>A (p.Leu178Ile)
c.193C>A (p.Leu65Ile)
c.931C>A (p.Leu311Ile)
c.826C>A (p.Leu276Ile)
11g.64598541C=CA1978798680SLC22A12c.856C= (p.Leu286=)
c.754C= (p.Leu252=)
c.532C= (p.Leu178=)
c.193C= (p.Leu65=)
c.931C= (p.Leu311=)
c.826C= (p.Leu276=)
11g.64598541C>GCA381125635SLC22A12c.856C>G (p.Leu286Val)
c.754C>G (p.Leu252Val)
c.532C>G (p.Leu178Val)
c.193C>G (p.Leu65Val)
c.931C>G (p.Leu311Val)
c.826C>G (p.Leu276Val)
 dbSNP gnomAD v3 gnomAD v4
11g.64598541C>TCA6077218SLC22A12c.856C>T (p.Leu286Phe)
c.754C>T (p.Leu252Phe)
c.532C>T (p.Leu178Phe)
c.193C>T (p.Leu65Phe)
c.931C>T (p.Leu311Phe)
c.826C>T (p.Leu276Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.64598544_64598546delCA2724482888SLC22A12c.859_861del (p.Leu287del)
c.757_759del (p.Leu253del)
c.535_537del (p.Leu179del)
c.196_198del (p.Leu66del)
c.934_936del (p.Leu312del)
c.829_831del (p.Leu277del)
 dbSNP
11g.64598542T>ACA381125643SLC22A12c.857T>A (p.Leu286His)
c.755T>A (p.Leu252His)
c.533T>A (p.Leu178His)
c.194T>A (p.Leu65His)
c.932T>A (p.Leu311His)
c.827T>A (p.Leu276His)
11g.64598542T>CCA381125646SLC22A12c.857T>C (p.Leu286Pro)
c.755T>C (p.Leu252Pro)
c.533T>C (p.Leu178Pro)
c.194T>C (p.Leu65Pro)
c.932T>C (p.Leu311Pro)
c.827T>C (p.Leu276Pro)
 dbSNP gnomAD v2
11g.64598542T>GCA381125639SLC22A12c.857T>G (p.Leu286Arg)
c.755T>G (p.Leu252Arg)
c.533T>G (p.Leu178Arg)
c.194T>G (p.Leu65Arg)
c.932T>G (p.Leu311Arg)
c.827T>G (p.Leu276Arg)
11g.64598542T=CA1978798684SLC22A12c.857T= (p.Leu286=)
c.755T= (p.Leu252=)
c.533T= (p.Leu178=)
c.194T= (p.Leu65=)
c.932T= (p.Leu311=)
c.827T= (p.Leu276=)
11g.64598543C>ACA474956094SLC22A12c.858C>A (p.Leu286=)
c.756C>A (p.Leu252=)
c.534C>A (p.Leu178=)
c.195C>A (p.Leu65=)
c.933C>A (p.Leu311=)
c.828C>A (p.Leu276=)
 dbSNP gnomAD v2 gnomAD v4
11g.64598543C=CA1978798687SLC22A12c.858C= (p.Leu286=)
c.756C= (p.Leu252=)
c.534C= (p.Leu178=)
c.195C= (p.Leu65=)
c.933C= (p.Leu311=)
c.828C= (p.Leu276=)
11g.64598543C>GCA474956095SLC22A12c.858C>G (p.Leu286=)
c.756C>G (p.Leu252=)
c.534C>G (p.Leu178=)
c.195C>G (p.Leu65=)
c.933C>G (p.Leu311=)
c.828C>G (p.Leu276=)
11g.64598543C>TCA474956096SLC22A12c.858C>T (p.Leu286=)
c.756C>T (p.Leu252=)
c.534C>T (p.Leu178=)
c.195C>T (p.Leu65=)
c.933C>T (p.Leu311=)
c.828C>T (p.Leu276=)
 COSMIC
11g.64598545_64598549delCA2614173640SLC22A12c.860_864del (p.Leu287HisfsTer30)
c.758_762del (p.Leu253HisfsTer30)
c.536_540del (p.Leu179HisfsTer30)
c.197_201del (p.Leu66HisfsTer30)
c.935_939del (p.Leu312HisfsTer30)
c.830_834del (p.Leu277HisfsTer30)
 gnomAD v4
11g.64598544C>ACA381125651SLC22A12c.859C>A (p.Leu287Ile)
c.757C>A (p.Leu253Ile)
c.535C>A (p.Leu179Ile)
c.196C>A (p.Leu66Ile)
c.934C>A (p.Leu312Ile)
c.829C>A (p.Leu277Ile)
 gnomAD v4
11g.64598544C>GCA381125659SLC22A12c.859C>G (p.Leu287Val)
c.757C>G (p.Leu253Val)
c.535C>G (p.Leu179Val)
c.196C>G (p.Leu66Val)
c.934C>G (p.Leu312Val)
c.829C>G (p.Leu277Val)
11g.64598544C>TCA381125654SLC22A12c.859C>T (p.Leu287Phe)
c.757C>T (p.Leu253Phe)
c.535C>T (p.Leu179Phe)
c.196C>T (p.Leu66Phe)
c.934C>T (p.Leu312Phe)
c.829C>T (p.Leu277Phe)
11g.64598545T>ACA381125662SLC22A12c.860T>A (p.Leu287His)
c.758T>A (p.Leu253His)
c.536T>A (p.Leu179His)
c.197T>A (p.Leu66His)
c.935T>A (p.Leu312His)
c.830T>A (p.Leu277His)
11g.64598545T>CCA381125663SLC22A12c.860T>C (p.Leu287Pro)
c.758T>C (p.Leu253Pro)
c.536T>C (p.Leu179Pro)
c.197T>C (p.Leu66Pro)
c.935T>C (p.Leu312Pro)
c.830T>C (p.Leu277Pro)
11g.64598545T>GCA381125664SLC22A12c.860T>G (p.Leu287Arg)
c.758T>G (p.Leu253Arg)
c.536T>G (p.Leu179Arg)
c.197T>G (p.Leu66Arg)
c.935T>G (p.Leu312Arg)
c.830T>G (p.Leu277Arg)
11g.64598546C>ACA474956103SLC22A12c.861C>A (p.Leu287=)
c.759C>A (p.Leu253=)
c.537C>A (p.Leu179=)
c.198C>A (p.Leu66=)
c.936C>A (p.Leu312=)
c.831C>A (p.Leu277=)
 gnomAD v4
11g.64598546C=CA1978798690SLC22A12c.861C= (p.Leu287=)
c.759C= (p.Leu253=)
c.537C= (p.Leu179=)
c.198C= (p.Leu66=)
c.936C= (p.Leu312=)
c.831C= (p.Leu277=)
11g.64598546C>GCA474956102SLC22A12c.861C>G (p.Leu287=)
c.759C>G (p.Leu253=)
c.537C>G (p.Leu179=)
c.198C>G (p.Leu66=)
c.936C>G (p.Leu312=)
c.831C>G (p.Leu277=)
11g.64598546C>TCA6077219SLC22A12c.861C>T (p.Leu287=)
c.759C>T (p.Leu253=)
c.537C>T (p.Leu179=)
c.198C>T (p.Leu66=)
c.936C>T (p.Leu312=)
c.831C>T (p.Leu277=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64598547A>CCA381125666SLC22A12c.862A>C (p.Thr288Pro)
c.760A>C (p.Thr254Pro)
c.538A>C (p.Thr180Pro)
c.199A>C (p.Thr67Pro)
c.937A>C (p.Thr313Pro)
c.832A>C (p.Thr278Pro)
11g.64598547A>GCA381125669SLC22A12c.862A>G (p.Thr288Ala)
c.760A>G (p.Thr254Ala)
c.538A>G (p.Thr180Ala)
c.199A>G (p.Thr67Ala)
c.937A>G (p.Thr313Ala)
c.832A>G (p.Thr278Ala)
11g.64598547A>TCA381125673SLC22A12c.862A>T (p.Thr288Ser)
c.760A>T (p.Thr254Ser)
c.538A>T (p.Thr180Ser)
c.199A>T (p.Thr67Ser)
c.937A>T (p.Thr313Ser)
c.832A>T (p.Thr278Ser)
11g.64598548C>ACA381125677SLC22A12c.863C>A (p.Thr288Asn)
c.761C>A (p.Thr254Asn)
c.539C>A (p.Thr180Asn)
c.200C>A (p.Thr67Asn)
c.938C>A (p.Thr313Asn)
c.833C>A (p.Thr278Asn)
11g.64598548C>GCA381125685SLC22A12c.863C>G (p.Thr288Ser)
c.761C>G (p.Thr254Ser)
c.539C>G (p.Thr180Ser)
c.200C>G (p.Thr67Ser)
c.938C>G (p.Thr313Ser)
c.833C>G (p.Thr278Ser)
11g.64598548C>TCA381125688SLC22A12c.863C>T (p.Thr288Ile)
c.761C>T (p.Thr254Ile)
c.539C>T (p.Thr180Ile)
c.200C>T (p.Thr67Ile)
c.938C>T (p.Thr313Ile)
c.833C>T (p.Thr278Ile)
 gnomAD v4
11g.64598549C>ACA474956110SLC22A12c.864C>A (p.Thr288=)
c.762C>A (p.Thr254=)
c.540C>A (p.Thr180=)
c.201C>A (p.Thr67=)
c.939C>A (p.Thr313=)
c.834C>A (p.Thr278=)
 gnomAD v4
11g.64598549C=CA1978798694SLC22A12c.864C= (p.Thr288=)
c.762C= (p.Thr254=)
c.540C= (p.Thr180=)
c.201C= (p.Thr67=)
c.939C= (p.Thr313=)
c.834C= (p.Thr278=)
11g.64598549C>GCA474956113SLC22A12c.864C>G (p.Thr288=)
c.762C>G (p.Thr254=)
c.540C>G (p.Thr180=)
c.201C>G (p.Thr67=)
c.939C>G (p.Thr313=)
c.834C>G (p.Thr278=)
11g.64598549C>TCA474956111SLC22A12c.864C>T (p.Thr288=)
c.762C>T (p.Thr254=)
c.540C>T (p.Thr180=)
c.201C>T (p.Thr67=)
c.939C>T (p.Thr313=)
c.834C>T (p.Thr278=)
11g.64598549_64598550insGACA474956114SLC22A12c.864_865insGA (p.Thr289GlufsTer28)
c.762_763insGA (p.Thr255GlufsTer28)
c.540_541insGA (p.Thr181GlufsTer28)
c.201_202insGA (p.Thr68GlufsTer28)
c.939_940insGA (p.Thr314GlufsTer28)
c.834_835insGA (p.Thr279GlufsTer28)
 dbSNP
11g.64598550A>CCA381125697SLC22A12c.865A>C (p.Thr289Pro)
c.763A>C (p.Thr255Pro)
c.541A>C (p.Thr181Pro)
c.202A>C (p.Thr68Pro)
c.940A>C (p.Thr314Pro)
c.835A>C (p.Thr279Pro)
 gnomAD v4
11g.64598550A>GCA381125696SLC22A12c.865A>G (p.Thr289Ala)
c.763A>G (p.Thr255Ala)
c.541A>G (p.Thr181Ala)
c.202A>G (p.Thr68Ala)
c.940A>G (p.Thr314Ala)
c.835A>G (p.Thr279Ala)
 gnomAD v4
11g.64598550A>TCA381125691SLC22A12c.865A>T (p.Thr289Ser)
c.763A>T (p.Thr255Ser)
c.541A>T (p.Thr181Ser)
c.202A>T (p.Thr68Ser)
c.940A>T (p.Thr314Ser)
c.835A>T (p.Thr279Ser)
11g.64598551C>ACA381125713SLC22A12c.866C>A (p.Thr289Lys)
c.764C>A (p.Thr255Lys)
c.542C>A (p.Thr181Lys)
c.203C>A (p.Thr68Lys)
c.941C>A (p.Thr314Lys)
c.836C>A (p.Thr279Lys)
 gnomAD v4
11g.64598551C=CA1978798699SLC22A12c.866C= (p.Thr289=)
c.764C= (p.Thr255=)
c.542C= (p.Thr181=)
c.203C= (p.Thr68=)
c.941C= (p.Thr314=)
c.836C= (p.Thr279=)
11g.64598551C>GCA381125715SLC22A12c.866C>G (p.Thr289Arg)
c.764C>G (p.Thr255Arg)
c.542C>G (p.Thr181Arg)
c.203C>G (p.Thr68Arg)
c.941C>G (p.Thr314Arg)
c.836C>G (p.Thr279Arg)
 gnomAD v4
11g.64598551C>TCA381125719SLC22A12c.866C>T (p.Thr289Ile)
c.764C>T (p.Thr255Ile)
c.542C>T (p.Thr181Ile)
c.203C>T (p.Thr68Ile)
c.941C>T (p.Thr314Ile)
c.836C>T (p.Thr279Ile)
 dbSNP gnomAD v2 gnomAD v4
11g.64598552A>CCA474956120SLC22A12c.867A>C (p.Thr289=)
c.765A>C (p.Thr255=)
c.543A>C (p.Thr181=)
c.204A>C (p.Thr68=)
c.942A>C (p.Thr314=)
c.837A>C (p.Thr279=)
11g.64598552A>GCA474956121SLC22A12c.867A>G (p.Thr289=)
c.765A>G (p.Thr255=)
c.543A>G (p.Thr181=)
c.204A>G (p.Thr68=)
c.942A>G (p.Thr314=)
c.837A>G (p.Thr279=)
 dbSNP
11g.64598552A>TCA474956122SLC22A12c.867A>T (p.Thr289=)
c.765A>T (p.Thr255=)
c.543A>T (p.Thr181=)
c.204A>T (p.Thr68=)
c.942A>T (p.Thr314=)
c.837A>T (p.Thr279=)
11g.64598553G>ACA381125724SLC22A12c.868G>A (p.Gly290Ser)
c.766G>A (p.Gly256Ser)
c.544G>A (p.Gly182Ser)
c.205G>A (p.Gly69Ser)
c.943G>A (p.Gly315Ser)
c.838G>A (p.Gly280Ser)
11g.64598553G>CCA381125725SLC22A12c.868G>C (p.Gly290Arg)
c.766G>C (p.Gly256Arg)
c.544G>C (p.Gly182Arg)
c.205G>C (p.Gly69Arg)
c.943G>C (p.Gly315Arg)
c.838G>C (p.Gly280Arg)
11g.64598553G>TCA381125727SLC22A12c.868G>T (p.Gly290Cys)
c.766G>T (p.Gly256Cys)
c.544G>T (p.Gly182Cys)
c.205G>T (p.Gly69Cys)
c.943G>T (p.Gly315Cys)
c.838G>T (p.Gly280Cys)
 dbSNP gnomAD v4 COSMIC
11g.64598554G>ACA381125728SLC22A12c.869G>A (p.Gly290Asp)
c.767G>A (p.Gly256Asp)
c.545G>A (p.Gly182Asp)
c.206G>A (p.Gly69Asp)
c.944G>A (p.Gly315Asp)
c.839G>A (p.Gly280Asp)
 dbSNP gnomAD v4
11g.64598554G>CCA381125730SLC22A12c.869G>C (p.Gly290Ala)
c.767G>C (p.Gly256Ala)
c.545G>C (p.Gly182Ala)
c.206G>C (p.Gly69Ala)
c.944G>C (p.Gly315Ala)
c.839G>C (p.Gly280Ala)
11g.64598554G=CA1978798700SLC22A12c.869G= (p.Gly290=)
c.767G= (p.Gly256=)
c.545G= (p.Gly182=)
c.206G= (p.Gly69=)
c.944G= (p.Gly315=)
c.839G= (p.Gly280=)
11g.64598554G>TCA381125733SLC22A12c.869G>T (p.Gly290Val)
c.767G>T (p.Gly256Val)
c.545G>T (p.Gly182Val)
c.206G>T (p.Gly69Val)
c.944G>T (p.Gly315Val)
c.839G>T (p.Gly280Val)
 gnomAD v4
11g.64598555C>ACA474956124SLC22A12c.870C>A (p.Gly290=)
c.768C>A (p.Gly256=)
c.546C>A (p.Gly182=)
c.207C>A (p.Gly69=)
c.945C>A (p.Gly315=)
c.840C>A (p.Gly280=)
 gnomAD v4
11g.64598555C=CA1978798703SLC22A12c.870C= (p.Gly290=)
c.768C= (p.Gly256=)
c.546C= (p.Gly182=)
c.207C= (p.Gly69=)
c.945C= (p.Gly315=)
c.840C= (p.Gly280=)
11g.64598555C>GCA474956125SLC22A12c.870C>G (p.Gly290=)
c.768C>G (p.Gly256=)
c.546C>G (p.Gly182=)
c.207C>G (p.Gly69=)
c.945C>G (p.Gly315=)
c.840C>G (p.Gly280=)
11g.64598555C>TCA474956126SLC22A12c.870C>T (p.Gly290=)
c.768C>T (p.Gly256=)
c.546C>T (p.Gly182=)
c.207C>T (p.Gly69=)
c.945C>T (p.Gly315=)
c.840C>T (p.Gly280=)
 dbSNP gnomAD v3 gnomAD v4
11g.64598556A>CCA474956127SLC22A12c.871A>C (p.Arg291=)
c.769A>C (p.Arg257=)
c.547A>C (p.Arg183=)
c.208A>C (p.Arg70=)
c.946A>C (p.Arg316=)
c.841A>C (p.Arg281=)
11g.64598556A>GCA381125736SLC22A12c.871A>G (p.Arg291Gly)
c.769A>G (p.Arg257Gly)
c.547A>G (p.Arg183Gly)
c.208A>G (p.Arg70Gly)
c.946A>G (p.Arg316Gly)
c.841A>G (p.Arg281Gly)
11g.64598556A>TCA381125740SLC22A12c.871A>T (p.Arg291Trp)
c.769A>T (p.Arg257Trp)
c.547A>T (p.Arg183Trp)
c.208A>T (p.Arg70Trp)
c.946A>T (p.Arg316Trp)
c.841A>T (p.Arg281Trp)
11g.64598557G>ACA381125745SLC22A12c.872G>A (p.Arg291Lys)
c.770G>A (p.Arg257Lys)
c.548G>A (p.Arg183Lys)
c.209G>A (p.Arg70Lys)
c.947G>A (p.Arg316Lys)
c.842G>A (p.Arg281Lys)
11g.64598557G>CCA381125748SLC22A12c.872G>C (p.Arg291Thr)
c.770G>C (p.Arg257Thr)
c.548G>C (p.Arg183Thr)
c.209G>C (p.Arg70Thr)
c.947G>C (p.Arg316Thr)
c.842G>C (p.Arg281Thr)
11g.64598557G>TCA381125742SLC22A12c.872G>T (p.Arg291Met)
c.770G>T (p.Arg257Met)
c.548G>T (p.Arg183Met)
c.209G>T (p.Arg70Met)
c.947G>T (p.Arg316Met)
c.842G>T (p.Arg281Met)
 gnomAD v4
11g.64598558delCA2614173641SLC22A12c.873del (p.Arg291SerfsTer25)
c.771del (p.Arg257SerfsTer25)
c.549del (p.Arg183SerfsTer25)
c.210del (p.Arg70SerfsTer25)
c.948del (p.Arg316SerfsTer25)
c.843del (p.Arg281SerfsTer25)
 gnomAD v4
11g.64598558G>ACA474956130SLC22A12c.873G>A (p.Arg291=)
c.771G>A (p.Arg257=)
c.549G>A (p.Arg183=)
c.210G>A (p.Arg70=)
c.948G>A (p.Arg316=)
c.843G>A (p.Arg281=)
 dbSNP gnomAD v2 gnomAD v4
11g.64598558G>CCA381125751SLC22A12c.873G>C (p.Arg291Ser)
c.771G>C (p.Arg257Ser)
c.549G>C (p.Arg183Ser)
c.210G>C (p.Arg70Ser)
c.948G>C (p.Arg316Ser)
c.843G>C (p.Arg281Ser)
 gnomAD v4
11g.64598558G=CA1978798708SLC22A12c.873G= (p.Arg291=)
c.771G= (p.Arg257=)
c.549G= (p.Arg183=)
c.210G= (p.Arg70=)
c.948G= (p.Arg316=)
c.843G= (p.Arg281=)
11g.64598558G>TCA381125755SLC22A12c.873G>T (p.Arg291Ser)
c.771G>T (p.Arg257Ser)
c.549G>T (p.Arg183Ser)
c.210G>T (p.Arg70Ser)
c.948G>T (p.Arg316Ser)
c.843G>T (p.Arg281Ser)
 dbSNP gnomAD v4 COSMIC
11g.64598559C>ACA381125759SLC22A12c.874C>A (p.Leu292Met)
c.772C>A (p.Leu258Met)
c.550C>A (p.Leu184Met)
c.211C>A (p.Leu71Met)
c.949C>A (p.Leu317Met)
c.844C>A (p.Leu282Met)
11g.64598559C>GCA381125763SLC22A12c.874C>G (p.Leu292Val)
c.772C>G (p.Leu258Val)
c.550C>G (p.Leu184Val)
c.211C>G (p.Leu71Val)
c.949C>G (p.Leu317Val)
c.844C>G (p.Leu282Val)
11g.64598559C>TCA474956132SLC22A12c.874C>T (p.Leu292=)
c.772C>T (p.Leu258=)
c.550C>T (p.Leu184=)
c.211C>T (p.Leu71=)
c.949C>T (p.Leu317=)
c.844C>T (p.Leu282=)
11g.64598560T>ACA381125769SLC22A12c.875T>A (p.Leu292Gln)
c.773T>A (p.Leu258Gln)
c.551T>A (p.Leu184Gln)
c.212T>A (p.Leu71Gln)
c.950T>A (p.Leu317Gln)
c.845T>A (p.Leu282Gln)
11g.64598560T>CCA381125772SLC22A12c.875T>C (p.Leu292Pro)
c.773T>C (p.Leu258Pro)
c.551T>C (p.Leu184Pro)
c.212T>C (p.Leu71Pro)
c.950T>C (p.Leu317Pro)
c.845T>C (p.Leu282Pro)
 gnomAD v4
11g.64598560T>GCA381125778SLC22A12c.875T>G (p.Leu292Arg)
c.773T>G (p.Leu258Arg)
c.551T>G (p.Leu184Arg)
c.212T>G (p.Leu71Arg)
c.950T>G (p.Leu317Arg)
c.845T>G (p.Leu282Arg)
11g.64598561G>ACA474956138SLC22A12c.876G>A (p.Leu292=)
c.774G>A (p.Leu258=)
c.552G>A (p.Leu184=)
c.213G>A (p.Leu71=)
c.951G>A (p.Leu317=)
c.846G>A (p.Leu282=)
 dbSNP gnomAD v2 gnomAD v4
11g.64598561G>CCA474956136SLC22A12c.876G>C (p.Leu292=)
c.774G>C (p.Leu258=)
c.552G>C (p.Leu184=)
c.213G>C (p.Leu71=)
c.951G>C (p.Leu317=)
c.846G>C (p.Leu282=)
11g.64598561G=CA1978798714SLC22A12c.876G= (p.Leu292=)
c.774G= (p.Leu258=)
c.552G= (p.Leu184=)
c.213G= (p.Leu71=)
c.951G= (p.Leu317=)
c.846G= (p.Leu282=)
11g.64598561G>TCA474956135SLC22A12c.876G>T (p.Leu292=)
c.774G>T (p.Leu258=)
c.552G>T (p.Leu184=)
c.213G>T (p.Leu71=)
c.951G>T (p.Leu317=)
c.846G>T (p.Leu282=)
 gnomAD v4
11g.64598562G>ACA381125785SLC22A12c.877G>A (p.Asp293Asn)
c.775G>A (p.Asp259Asn)
c.553G>A (p.Asp185Asn)
c.214G>A (p.Asp72Asn)
c.952G>A (p.Asp318Asn)
c.847G>A (p.Asp283Asn)
 dbSNP gnomAD v2
11g.64598562G>CCA381125789SLC22A12c.877G>C (p.Asp293His)
c.775G>C (p.Asp259His)
c.553G>C (p.Asp185His)
c.214G>C (p.Asp72His)
c.952G>C (p.Asp318His)
c.847G>C (p.Asp283His)
11g.64598562G=CA1978798719SLC22A12c.877G= (p.Asp293=)
c.775G= (p.Asp259=)
c.553G= (p.Asp185=)
c.214G= (p.Asp72=)
c.952G= (p.Asp318=)
c.847G= (p.Asp283=)
11g.64598562G>TCA381125792SLC22A12c.877G>T (p.Asp293Tyr)
c.775G>T (p.Asp259Tyr)
c.553G>T (p.Asp185Tyr)
c.214G>T (p.Asp72Tyr)
c.952G>T (p.Asp318Tyr)
c.847G>T (p.Asp283Tyr)
11g.64598563A>CCA381125800SLC22A12c.878A>C (p.Asp293Ala)
c.776A>C (p.Asp259Ala)
c.554A>C (p.Asp185Ala)
c.215A>C (p.Asp72Ala)
c.953A>C (p.Asp318Ala)
c.848A>C (p.Asp283Ala)
11g.64598563A>GCA381125804SLC22A12c.878A>G (p.Asp293Gly)
c.776A>G (p.Asp259Gly)
c.554A>G (p.Asp185Gly)
c.215A>G (p.Asp72Gly)
c.953A>G (p.Asp318Gly)
c.848A>G (p.Asp283Gly)
 gnomAD v4
11g.64598563A>TCA381125808SLC22A12c.878A>T (p.Asp293Val)
c.776A>T (p.Asp259Val)
c.554A>T (p.Asp185Val)
c.215A>T (p.Asp72Val)
c.953A>T (p.Asp318Val)
c.848A>T (p.Asp283Val)
11g.64598564T>ACA381125820SLC22A12c.879T>A (p.Asp293Glu)
c.777T>A (p.Asp259Glu)
c.555T>A (p.Asp185Glu)
c.216T>A (p.Asp72Glu)
c.954T>A (p.Asp318Glu)
c.849T>A (p.Asp283Glu)
11g.64598564T>CCA474956141SLC22A12c.879T>C (p.Asp293=)
c.777T>C (p.Asp259=)
c.555T>C (p.Asp185=)
c.216T>C (p.Asp72=)
c.954T>C (p.Asp318=)
c.849T>C (p.Asp283=)
 dbSNP gnomAD v2 gnomAD v4
11g.64598564T>GCA381125823SLC22A12c.879T>G (p.Asp293Glu)
c.777T>G (p.Asp259Glu)
c.555T>G (p.Asp185Glu)
c.216T>G (p.Asp72Glu)
c.954T>G (p.Asp318Glu)
c.849T>G (p.Asp283Glu)
11g.64598564T=CA1978798724SLC22A12c.879T= (p.Asp293=)
c.777T= (p.Asp259=)
c.555T= (p.Asp185=)
c.216T= (p.Asp72=)
c.954T= (p.Asp318=)
c.849T= (p.Asp283=)
11g.64598565T>ACA381125826SLC22A12c.880T>A (p.Trp294Arg)
c.778T>A (p.Trp260Arg)
c.556T>A (p.Trp186Arg)
c.217T>A (p.Trp73Arg)
c.955T>A (p.Trp319Arg)
c.850T>A (p.Trp284Arg)
11g.64598565T>CCA381125830SLC22A12c.880T>C (p.Trp294Arg)
c.778T>C (p.Trp260Arg)
c.556T>C (p.Trp186Arg)
c.217T>C (p.Trp73Arg)
c.955T>C (p.Trp319Arg)
c.850T>C (p.Trp284Arg)
11g.64598565T>GCA6077220SLC22A12c.880T>G (p.Trp294Gly)
c.778T>G (p.Trp260Gly)
c.556T>G (p.Trp186Gly)
c.217T>G (p.Trp73Gly)
c.955T>G (p.Trp319Gly)
c.850T>G (p.Trp284Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64598565T=CA1978798729SLC22A12c.880T= (p.Trp294=)
c.778T= (p.Trp260=)
c.556T= (p.Trp186=)
c.217T= (p.Trp73=)
c.955T= (p.Trp319=)
c.850T= (p.Trp284=)
11g.64598566G>ACA381125835SLC22A12c.881G>A (p.Trp294Ter)
c.779G>A (p.Trp260Ter)
c.557G>A (p.Trp186Ter)
c.218G>A (p.Trp73Ter)
c.956G>A (p.Trp319Ter)
c.851G>A (p.Trp284Ter)
11g.64598566G>CCA381125836SLC22A12c.881G>C (p.Trp294Ser)
c.779G>C (p.Trp260Ser)
c.557G>C (p.Trp186Ser)
c.218G>C (p.Trp73Ser)
c.956G>C (p.Trp319Ser)
c.851G>C (p.Trp284Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.64598566G=CA1978798734SLC22A12c.881G= (p.Trp294=)
c.779G= (p.Trp260=)
c.557G= (p.Trp186=)
c.218G= (p.Trp73=)
c.956G= (p.Trp319=)
c.851G= (p.Trp284=)
11g.64598566G>TCA381125837SLC22A12c.881G>T (p.Trp294Leu)
c.779G>T (p.Trp260Leu)
c.557G>T (p.Trp186Leu)
c.218G>T (p.Trp73Leu)
c.956G>T (p.Trp319Leu)
c.851G>T (p.Trp284Leu)
 gnomAD v4
11g.64598569delCA2614173642SLC22A12c.884del (p.Gly295AlafsTer21)
c.782del (p.Gly261AlafsTer21)
c.560del (p.Gly187AlafsTer21)
c.221del (p.Gly74AlafsTer21)
c.959del (p.Gly320AlafsTer21)
c.854del (p.Gly285AlafsTer21)
 gnomAD v4
11g.64598567G>ACA381125839SLC22A12c.882G>A (p.Trp294Ter)
c.780G>A (p.Trp260Ter)
c.558G>A (p.Trp186Ter)
c.219G>A (p.Trp73Ter)
c.957G>A (p.Trp319Ter)
c.852G>A (p.Trp284Ter)
 dbSNP gnomAD v2
11g.64598567G>CCA381125841SLC22A12c.882G>C (p.Trp294Cys)
c.780G>C (p.Trp260Cys)
c.558G>C (p.Trp186Cys)
c.219G>C (p.Trp73Cys)
c.957G>C (p.Trp319Cys)
c.852G>C (p.Trp284Cys)
11g.64598567G=CA1978798741SLC22A12c.882G= (p.Trp294=)
c.780G= (p.Trp260=)
c.558G= (p.Trp186=)
c.219G= (p.Trp73=)
c.957G= (p.Trp319=)
c.852G= (p.Trp284=)
11g.64598567G>TCA381125845SLC22A12c.882G>T (p.Trp294Cys)
c.780G>T (p.Trp260Cys)
c.558G>T (p.Trp186Cys)
c.219G>T (p.Trp73Cys)
c.957G>T (p.Trp319Cys)
c.852G>T (p.Trp284Cys)
11g.64598568G>ACA223870883SLC22A12c.883G>A (p.Gly295Ser)
c.781G>A (p.Gly261Ser)
c.559G>A (p.Gly187Ser)
c.220G>A (p.Gly74Ser)
c.958G>A (p.Gly320Ser)
c.853G>A (p.Gly285Ser)
 dbSNP COSMIC
11g.64598568G>CCA381125856SLC22A12c.883G>C (p.Gly295Arg)
c.781G>C (p.Gly261Arg)
c.559G>C (p.Gly187Arg)
c.220G>C (p.Gly74Arg)
c.958G>C (p.Gly320Arg)
c.853G>C (p.Gly285Arg)
11g.64598568G=CA1978798745SLC22A12c.883G= (p.Gly295=)
c.781G= (p.Gly261=)
c.559G= (p.Gly187=)
c.220G= (p.Gly74=)
c.958G= (p.Gly320=)
c.853G= (p.Gly285=)
11g.64598568G>TCA381125858SLC22A12c.883G>T (p.Gly295Cys)
c.781G>T (p.Gly261Cys)
c.559G>T (p.Gly187Cys)
c.220G>T (p.Gly74Cys)
c.958G>T (p.Gly320Cys)
c.853G>T (p.Gly285Cys)
11g.64598569G>ACA6077221SLC22A12c.884G>A (p.Gly295Asp)
c.782G>A (p.Gly261Asp)
c.560G>A (p.Gly187Asp)
c.221G>A (p.Gly74Asp)
c.959G>A (p.Gly320Asp)
c.854G>A (p.Gly285Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.64598569G>CCA381125878SLC22A12c.884G>C (p.Gly295Ala)
c.782G>C (p.Gly261Ala)
c.560G>C (p.Gly187Ala)
c.221G>C (p.Gly74Ala)
c.959G>C (p.Gly320Ala)
c.854G>C (p.Gly285Ala)
11g.64598569G=CA1978798750SLC22A12c.884G= (p.Gly295=)
c.782G= (p.Gly261=)
c.560G= (p.Gly187=)
c.221G= (p.Gly74=)
c.959G= (p.Gly320=)
c.854G= (p.Gly285=)
11g.64598569G>TCA381125863SLC22A12c.884G>T (p.Gly295Val)
c.782G>T (p.Gly261Val)
c.560G>T (p.Gly187Val)
c.221G>T (p.Gly74Val)
c.959G>T (p.Gly320Val)
c.854G>T (p.Gly285Val)
11g.64598570C>ACA474956144SLC22A12c.885C>A (p.Gly295=)
c.783C>A (p.Gly261=)
c.561C>A (p.Gly187=)
c.222C>A (p.Gly74=)
c.960C>A (p.Gly320=)
c.855C>A (p.Gly285=)
 gnomAD v4
11g.64598570C>GCA474956145SLC22A12c.885C>G (p.Gly295=)
c.783C>G (p.Gly261=)
c.561C>G (p.Gly187=)
c.222C>G (p.Gly74=)
c.960C>G (p.Gly320=)
c.855C>G (p.Gly285=)
11g.64598570C>TCA474956146SLC22A12c.885C>T (p.Gly295=)
c.783C>T (p.Gly261=)
c.561C>T (p.Gly187=)
c.222C>T (p.Gly74=)
c.960C>T (p.Gly320=)
c.855C>T (p.Gly285=)
11g.64598571C>ACA381125883SLC22A12c.886C>A (p.Leu296Met)
c.784C>A (p.Leu262Met)
c.562C>A (p.Leu188Met)
c.223C>A (p.Leu75Met)
c.961C>A (p.Leu321Met)
c.856C>A (p.Leu286Met)
11g.64598571C=CA1978798758SLC22A12c.886C= (p.Leu296=)
c.784C= (p.Leu262=)
c.562C= (p.Leu188=)
c.223C= (p.Leu75=)
c.961C= (p.Leu321=)
c.856C= (p.Leu286=)
11g.64598571C>GCA381125886SLC22A12c.886C>G (p.Leu296Val)
c.784C>G (p.Leu262Val)
c.562C>G (p.Leu188Val)
c.223C>G (p.Leu75Val)
c.961C>G (p.Leu321Val)
c.856C>G (p.Leu286Val)
11g.64598571C>TCA474956147SLC22A12c.886C>T (p.Leu296=)
c.784C>T (p.Leu262=)
c.562C>T (p.Leu188=)
c.223C>T (p.Leu75=)
c.961C>T (p.Leu321=)
c.856C>T (p.Leu286=)
 dbSNP gnomAD v2
11g.64598572T>ACA381125889SLC22A12c.887T>A (p.Leu296Gln)
c.785T>A (p.Leu262Gln)
c.563T>A (p.Leu188Gln)
c.224T>A (p.Leu75Gln)
c.962T>A (p.Leu321Gln)
c.857T>A (p.Leu286Gln)
11g.64598572T>CCA381125894SLC22A12c.887T>C (p.Leu296Pro)
c.785T>C (p.Leu262Pro)
c.563T>C (p.Leu188Pro)
c.224T>C (p.Leu75Pro)
c.962T>C (p.Leu321Pro)
c.857T>C (p.Leu286Pro)
11g.64598572T>GCA381125897SLC22A12c.887T>G (p.Leu296Arg)
c.785T>G (p.Leu262Arg)
c.563T>G (p.Leu188Arg)
c.224T>G (p.Leu75Arg)
c.962T>G (p.Leu321Arg)
c.857T>G (p.Leu286Arg)
11g.64598573G>ACA474956148SLC22A12c.888G>A (p.Leu296=)
c.786G>A (p.Leu262=)
c.564G>A (p.Leu188=)
c.225G>A (p.Leu75=)
c.963G>A (p.Leu321=)
c.858G>A (p.Leu286=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.64598573G>CCA474956149SLC22A12c.888G>C (p.Leu296=)
c.786G>C (p.Leu262=)
c.564G>C (p.Leu188=)
c.225G>C (p.Leu75=)
c.963G>C (p.Leu321=)
c.858G>C (p.Leu286=)
 gnomAD v4
11g.64598573G=CA1978798763SLC22A12c.888G= (p.Leu296=)
c.786G= (p.Leu262=)
c.564G= (p.Leu188=)
c.225G= (p.Leu75=)
c.963G= (p.Leu321=)
c.858G= (p.Leu286=)
11g.64598573G>TCA474956150SLC22A12c.888G>T (p.Leu296=)
c.786G>T (p.Leu262=)
c.564G>T (p.Leu188=)
c.225G>T (p.Leu75=)
c.963G>T (p.Leu321=)
c.858G>T (p.Leu286=)
 gnomAD v4
11g.64598574C>ACA381125903SLC22A12c.889C>A (p.Gln297Lys)
c.787C>A (p.Gln263Lys)
c.565C>A (p.Gln189Lys)
c.226C>A (p.Gln76Lys)
c.964C>A (p.Gln322Lys)
c.859C>A (p.Gln287Lys)
 dbSNP
11g.64598574C=CA1978798777SLC22A12c.889C= (p.Gln297=)
c.787C= (p.Gln263=)
c.565C= (p.Gln189=)
c.226C= (p.Gln76=)
c.964C= (p.Gln322=)
c.859C= (p.Gln287=)
11g.64598574C>GCA381125906SLC22A12c.889C>G (p.Gln297Glu)
c.787C>G (p.Gln263Glu)
c.565C>G (p.Gln189Glu)
c.226C>G (p.Gln76Glu)
c.964C>G (p.Gln322Glu)
c.859C>G (p.Gln287Glu)
11g.64598574C>TCA381125911SLC22A12c.889C>T (p.Gln297Ter)
c.787C>T (p.Gln263Ter)
c.565C>T (p.Gln189Ter)
c.226C>T (p.Gln76Ter)
c.964C>T (p.Gln322Ter)
c.859C>T (p.Gln287Ter)
 dbSNP gnomAD v4
11g.64598575A>CCA381125916SLC22A12c.890A>C (p.Gln297Pro)
c.788A>C (p.Gln263Pro)
c.566A>C (p.Gln189Pro)
c.227A>C (p.Gln76Pro)
c.965A>C (p.Gln322Pro)
c.860A>C (p.Gln287Pro)
11g.64598575A>GCA381125924SLC22A12c.890A>G (p.Gln297Arg)
c.788A>G (p.Gln263Arg)
c.566A>G (p.Gln189Arg)
c.227A>G (p.Gln76Arg)
c.965A>G (p.Gln322Arg)
c.860A>G (p.Gln287Arg)
 dbSNP
11g.64598575A>TCA381125921SLC22A12c.890A>T (p.Gln297Leu)
c.788A>T (p.Gln263Leu)
c.566A>T (p.Gln189Leu)
c.227A>T (p.Gln76Leu)
c.965A>T (p.Gln322Leu)
c.860A>T (p.Gln287Leu)
11g.64598576G>ACA474956152SLC22A12c.891G>A (p.Gln297=)
c.789G>A (p.Gln263=)
c.567G>A (p.Gln189=)
c.228G>A (p.Gln76=)
c.966G>A (p.Gln322=)
c.861G>A (p.Gln287=)
 dbSNP
11g.64598576G>CCA381125928SLC22A12c.891G>C (p.Gln297His)
c.789G>C (p.Gln263His)
c.567G>C (p.Gln189His)
c.228G>C (p.Gln76His)
c.966G>C (p.Gln322His)
c.861G>C (p.Gln287His)
11g.64598576G=CA1978798779SLC22A12c.891G= (p.Gln297=)
c.789G= (p.Gln263=)
c.567G= (p.Gln189=)
c.228G= (p.Gln76=)
c.966G= (p.Gln322=)
c.861G= (p.Gln287=)
11g.64598576G>TCA381125931SLC22A12c.891G>T (p.Gln297His)
c.789G>T (p.Gln263His)
c.567G>T (p.Gln189His)
c.228G>T (p.Gln76His)
c.966G>T (p.Gln322His)
c.861G>T (p.Gln287His)
11g.64598577G>ACA381125936SLC22A12c.892G>A (p.Glu298Lys)
c.790G>A (p.Glu264Lys)
c.568G>A (p.Glu190Lys)
c.229G>A (p.Glu77Lys)
c.967G>A (p.Glu323Lys)
c.862G>A (p.Glu288Lys)
 gnomAD v4
11g.64598577G>CCA381125938SLC22A12c.892G>C (p.Glu298Gln)
c.790G>C (p.Glu264Gln)
c.568G>C (p.Glu190Gln)
c.229G>C (p.Glu77Gln)
c.967G>C (p.Glu323Gln)
c.862G>C (p.Glu288Gln)
11g.64598577G>TCA381125942SLC22A12c.892G>T (p.Glu298Ter)
c.790G>T (p.Glu264Ter)
c.568G>T (p.Glu190Ter)
c.229G>T (p.Glu77Ter)
c.967G>T (p.Glu323Ter)
c.862G>T (p.Glu288Ter)
 gnomAD v4
11g.64598578A>CCA381125944SLC22A12c.893A>C (p.Glu298Ala)
c.791A>C (p.Glu264Ala)
c.569A>C (p.Glu190Ala)
c.230A>C (p.Glu77Ala)
c.968A>C (p.Glu323Ala)
c.863A>C (p.Glu288Ala)
11g.64598578A>GCA381125948SLC22A12c.893A>G (p.Glu298Gly)
c.791A>G (p.Glu264Gly)
c.569A>G (p.Glu190Gly)
c.230A>G (p.Glu77Gly)
c.968A>G (p.Glu323Gly)
c.863A>G (p.Glu288Gly)
11g.64598578A>TCA381125946SLC22A12c.893A>T (p.Glu298Val)
c.791A>T (p.Glu264Val)
c.569A>T (p.Glu190Val)
c.230A>T (p.Glu77Val)
c.968A>T (p.Glu323Val)
c.863A>T (p.Glu288Val)
11g.64598579G>ACA223870887SLC22A12c.894G>A (p.Glu298=)
c.792G>A (p.Glu264=)
c.570G>A (p.Glu190=)
c.231G>A (p.Glu77=)
c.969G>A (p.Glu323=)
c.864G>A (p.Glu288=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.64598579G>CCA381125955SLC22A12c.894G>C (p.Glu298Asp)
c.792G>C (p.Glu264Asp)
c.570G>C (p.Glu190Asp)
c.231G>C (p.Glu77Asp)
c.969G>C (p.Glu323Asp)
c.864G>C (p.Glu288Asp)
11g.64598579G=CA1978798786SLC22A12c.894G= (p.Glu298=)
c.792G= (p.Glu264=)
c.570G= (p.Glu190=)
c.231G= (p.Glu77=)
c.969G= (p.Glu323=)
c.864G= (p.Glu288=)
11g.64598579G>TCA116315SLC22A12c.894G>T (p.Glu298Asp)
c.792G>T (p.Glu264Asp)
c.570G>T (p.Glu190Asp)
c.231G>T (p.Glu77Asp)
c.969G>T (p.Glu323Asp)
c.864G>T (p.Glu288Asp)
 ClinVar dbSNP
11g.64598580C>ACA381125962SLC22A12c.895C>A (p.Leu299Met)
c.793C>A (p.Leu265Met)
c.571C>A (p.Leu191Met)
c.232C>A (p.Leu78Met)
c.970C>A (p.Leu324Met)
c.865C>A (p.Leu289Met)
 gnomAD v4
11g.64598580C=CA1978798790SLC22A12c.895C= (p.Leu299=)
c.793C= (p.Leu265=)
c.571C= (p.Leu191=)
c.232C= (p.Leu78=)
c.970C= (p.Leu324=)
c.865C= (p.Leu289=)
11g.64598580C>GCA381125964SLC22A12c.895C>G (p.Leu299Val)
c.793C>G (p.Leu265Val)
c.571C>G (p.Leu191Val)
c.232C>G (p.Leu78Val)
c.970C>G (p.Leu324Val)
c.865C>G (p.Leu289Val)
11g.64598580C>TCA6077222SLC22A12c.895C>T (p.Leu299=)
c.793C>T (p.Leu265=)
c.571C>T (p.Leu191=)
c.232C>T (p.Leu78=)
c.970C>T (p.Leu324=)
c.865C>T (p.Leu289=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64598580_64598581delCA2569481180SLC22A12c.895_896del (p.Leu299ValfsTer19)
c.793_794del (p.Leu265ValfsTer19)
c.571_572del (p.Leu191ValfsTer19)
c.232_233del (p.Leu78ValfsTer19)
c.970_971del (p.Leu324ValfsTer19)
c.865_866del (p.Leu289ValfsTer19)
11g.64598581T>ACA381125971SLC22A12c.896T>A (p.Leu299Gln)
c.794T>A (p.Leu265Gln)
c.572T>A (p.Leu191Gln)
c.233T>A (p.Leu78Gln)
c.971T>A (p.Leu324Gln)
c.866T>A (p.Leu289Gln)
11g.64598581T>CCA381125972SLC22A12c.896T>C (p.Leu299Pro)
c.794T>C (p.Leu265Pro)
c.572T>C (p.Leu191Pro)
c.233T>C (p.Leu78Pro)
c.971T>C (p.Leu324Pro)
c.866T>C (p.Leu289Pro)
 dbSNP gnomAD v4
11g.64598581T>GCA381125977SLC22A12c.896T>G (p.Leu299Arg)
c.794T>G (p.Leu265Arg)
c.572T>G (p.Leu191Arg)
c.233T>G (p.Leu78Arg)
c.971T>G (p.Leu324Arg)
c.866T>G (p.Leu289Arg)
11g.64598582G>ACA474956161SLC22A12c.897G>A (p.Leu299=)
c.795G>A (p.Leu265=)
c.573G>A (p.Leu191=)
c.234G>A (p.Leu78=)
c.972G>A (p.Leu324=)
c.867G>A (p.Leu289=)
 gnomAD v4
11g.64598582G>CCA474956159SLC22A12c.897G>C (p.Leu299=)
c.795G>C (p.Leu265=)
c.573G>C (p.Leu191=)
c.234G>C (p.Leu78=)
c.972G>C (p.Leu324=)
c.867G>C (p.Leu289=)
11g.64598582G>TCA474956157SLC22A12c.897G>T (p.Leu299=)
c.795G>T (p.Leu265=)
c.573G>T (p.Leu191=)
c.234G>T (p.Leu78=)
c.972G>T (p.Leu324=)
c.867G>T (p.Leu289=)
11g.64598583T>ACA381125978SLC22A12c.898T>A (p.Trp300Arg)
c.796T>A (p.Trp266Arg)
c.574T>A (p.Trp192Arg)
c.235T>A (p.Trp79Arg)
c.973T>A (p.Trp325Arg)
c.868T>A (p.Trp290Arg)
11g.64598583T>CCA381125979SLC22A12c.898T>C (p.Trp300Arg)
c.796T>C (p.Trp266Arg)
c.574T>C (p.Trp192Arg)
c.235T>C (p.Trp79Arg)
c.973T>C (p.Trp325Arg)
c.868T>C (p.Trp290Arg)
 dbSNP gnomAD v3 gnomAD v4
11g.64598583T>GCA381125982SLC22A12c.898T>G (p.Trp300Gly)
c.796T>G (p.Trp266Gly)
c.574T>G (p.Trp192Gly)
c.235T>G (p.Trp79Gly)
c.973T>G (p.Trp325Gly)
c.868T>G (p.Trp290Gly)
11g.64598583T=CA1978798794SLC22A12c.898T= (p.Trp300=)
c.796T= (p.Trp266=)
c.574T= (p.Trp192=)
c.235T= (p.Trp79=)
c.973T= (p.Trp325=)
c.868T= (p.Trp290=)
11g.64598584G>ACA381125985SLC22A12c.899G>A (p.Trp300Ter)
c.797G>A (p.Trp266Ter)
c.575G>A (p.Trp192Ter)
c.236G>A (p.Trp79Ter)
c.974G>A (p.Trp325Ter)
c.869G>A (p.Trp290Ter)
11g.64598584G>CCA381125998SLC22A12c.899G>C (p.Trp300Ser)
c.797G>C (p.Trp266Ser)
c.575G>C (p.Trp192Ser)
c.236G>C (p.Trp79Ser)
c.974G>C (p.Trp325Ser)
c.869G>C (p.Trp290Ser)
11g.64598584G>TCA381125989SLC22A12c.899G>T (p.Trp300Leu)
c.797G>T (p.Trp266Leu)
c.575G>T (p.Trp192Leu)
c.236G>T (p.Trp79Leu)
c.974G>T (p.Trp325Leu)
c.869G>T (p.Trp290Leu)
 gnomAD v4
11g.64598585G>ACA381126000SLC22A12c.900G>A (p.Trp300Ter)
c.798G>A (p.Trp266Ter)
c.576G>A (p.Trp192Ter)
c.237G>A (p.Trp79Ter)
c.975G>A (p.Trp325Ter)
c.870G>A (p.Trp290Ter)
11g.64598585G>CCA381126003SLC22A12c.900G>C (p.Trp300Cys)
c.798G>C (p.Trp266Cys)
c.576G>C (p.Trp192Cys)
c.237G>C (p.Trp79Cys)
c.975G>C (p.Trp325Cys)
c.870G>C (p.Trp290Cys)
11g.64598585G>TCA381126008SLC22A12c.900G>T (p.Trp300Cys)
c.798G>T (p.Trp266Cys)
c.576G>T (p.Trp192Cys)
c.237G>T (p.Trp79Cys)
c.975G>T (p.Trp325Cys)
c.870G>T (p.Trp290Cys)
11g.64598586A>CCA474956166SLC22A12c.901A>C (p.Arg301=)
c.799A>C (p.Arg267=)
c.577A>C (p.Arg193=)
c.238A>C (p.Arg80=)
c.976A>C (p.Arg326=)
c.871A>C (p.Arg291=)
11g.64598586A>GCA381126016SLC22A12c.901A>G (p.Arg301Gly)
c.799A>G (p.Arg267Gly)
c.577A>G (p.Arg193Gly)
c.238A>G (p.Arg80Gly)
c.976A>G (p.Arg326Gly)
c.871A>G (p.Arg291Gly)
 gnomAD v4
11g.64598586A>TCA381126017SLC22A12c.901A>T (p.Arg301Trp)
c.799A>T (p.Arg267Trp)
c.577A>T (p.Arg193Trp)
c.238A>T (p.Arg80Trp)
c.976A>T (p.Arg326Trp)
c.871A>T (p.Arg291Trp)
11g.64598587G>ACA381126018SLC22A12c.902G>A (p.Arg301Lys)
c.800G>A (p.Arg267Lys)
c.578G>A (p.Arg193Lys)
c.239G>A (p.Arg80Lys)
c.977G>A (p.Arg326Lys)
c.872G>A (p.Arg291Lys)
11g.64598587G>CCA381126019SLC22A12c.902G>C (p.Arg301Thr)
c.800G>C (p.Arg267Thr)
c.578G>C (p.Arg193Thr)
c.239G>C (p.Arg80Thr)
c.977G>C (p.Arg326Thr)
c.872G>C (p.Arg291Thr)
 gnomAD v4
11g.64598587G>TCA381126020SLC22A12c.902G>T (p.Arg301Met)
c.800G>T (p.Arg267Met)
c.578G>T (p.Arg193Met)
c.239G>T (p.Arg80Met)
c.977G>T (p.Arg326Met)
c.872G>T (p.Arg291Met)
 gnomAD v4
11g.64598589delCA645581810SLC22A12c.904del (p.Val302TrpfsTer14)
c.802del (p.Val268TrpfsTer14)
c.580del (p.Val194TrpfsTer14)
c.241del (p.Val81TrpfsTer14)
c.979del (p.Val327TrpfsTer14)
c.874del (p.Val292TrpfsTer14)
 COSMIC

Number of alleles fetched