Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178631156G>ACA349646944TTNc.36188C>T (p.Ala12063Val)
c.17273C>T (p.Ala5758Val)
c.17072C>T (p.Ala5691Val)
c.16697C>T (p.Ala5566Val)
c.43892C>T (p.Ala14631Val)
c.38969C>T (p.Ala12990Val)
c.42989C>T (p.Ala14330Val)
c.16883C>T (p.Ala5628Val)
c.16742C>T (p.Ala5581Val)
c.42785C>T (p.Ala14262Val)
c.38183C>T (p.Ala12728Val)
c.38180C>T (p.Ala12727Val)
c.35222C>T (p.Ala11741Val)
c.16838C>T (p.Ala5613Val)
c.38333C>T (p.Ala12778Val)
c.38330C>T (p.Ala12777Val)
c.37763C>T (p.Ala12588Val)
c.35105C>T (p.Ala11702Val)
c.35024C>T (p.Ala11675Val)
c.16787C>T (p.Ala5596Val)
c.6641C>T (p.Ala2214Val)
 dbSNP gnomAD v3 gnomAD v4
2g.178631156G>CCA349646945TTNc.36188C>G (p.Ala12063Gly)
c.17273C>G (p.Ala5758Gly)
c.17072C>G (p.Ala5691Gly)
c.16697C>G (p.Ala5566Gly)
c.43892C>G (p.Ala14631Gly)
c.38969C>G (p.Ala12990Gly)
c.42989C>G (p.Ala14330Gly)
c.16883C>G (p.Ala5628Gly)
c.16742C>G (p.Ala5581Gly)
c.42785C>G (p.Ala14262Gly)
c.38183C>G (p.Ala12728Gly)
c.38180C>G (p.Ala12727Gly)
c.35222C>G (p.Ala11741Gly)
c.16838C>G (p.Ala5613Gly)
c.38333C>G (p.Ala12778Gly)
c.38330C>G (p.Ala12777Gly)
c.37763C>G (p.Ala12588Gly)
c.35105C>G (p.Ala11702Gly)
c.35024C>G (p.Ala11675Gly)
c.16787C>G (p.Ala5596Gly)
c.6641C>G (p.Ala2214Gly)
 dbSNP
2g.178631156G=CA1310556247TTNc.36188C= (p.Ala12063=)
c.17273C= (p.Ala5758=)
c.17072C= (p.Ala5691=)
c.16697C= (p.Ala5566=)
c.43892C= (p.Ala14631=)
c.38969C= (p.Ala12990=)
c.42989C= (p.Ala14330=)
c.16883C= (p.Ala5628=)
c.16742C= (p.Ala5581=)
c.42785C= (p.Ala14262=)
c.38183C= (p.Ala12728=)
c.38180C= (p.Ala12727=)
c.35222C= (p.Ala11741=)
c.16838C= (p.Ala5613=)
c.38333C= (p.Ala12778=)
c.38330C= (p.Ala12777=)
c.37763C= (p.Ala12588=)
c.35105C= (p.Ala11702=)
c.35024C= (p.Ala11675=)
c.16787C= (p.Ala5596=)
c.6641C= (p.Ala2214=)
2g.178631156G>TCA349646947TTNc.36188C>A (p.Ala12063Asp)
c.17273C>A (p.Ala5758Asp)
c.17072C>A (p.Ala5691Asp)
c.16697C>A (p.Ala5566Asp)
c.43892C>A (p.Ala14631Asp)
c.38969C>A (p.Ala12990Asp)
c.42989C>A (p.Ala14330Asp)
c.16883C>A (p.Ala5628Asp)
c.16742C>A (p.Ala5581Asp)
c.42785C>A (p.Ala14262Asp)
c.38183C>A (p.Ala12728Asp)
c.38180C>A (p.Ala12727Asp)
c.35222C>A (p.Ala11741Asp)
c.16838C>A (p.Ala5613Asp)
c.38333C>A (p.Ala12778Asp)
c.38330C>A (p.Ala12777Asp)
c.37763C>A (p.Ala12588Asp)
c.35105C>A (p.Ala11702Asp)
c.35024C>A (p.Ala11675Asp)
c.16787C>A (p.Ala5596Asp)
c.6641C>A (p.Ala2214Asp)
2g.178631157C>ACA349646950TTNc.36187G>T (p.Ala12063Ser)
c.17272G>T (p.Ala5758Ser)
c.17071G>T (p.Ala5691Ser)
c.16696G>T (p.Ala5566Ser)
c.43891G>T (p.Ala14631Ser)
c.38968G>T (p.Ala12990Ser)
c.42988G>T (p.Ala14330Ser)
c.16882G>T (p.Ala5628Ser)
c.16741G>T (p.Ala5581Ser)
c.42784G>T (p.Ala14262Ser)
c.38182G>T (p.Ala12728Ser)
c.38179G>T (p.Ala12727Ser)
c.35221G>T (p.Ala11741Ser)
c.16837G>T (p.Ala5613Ser)
c.38332G>T (p.Ala12778Ser)
c.38329G>T (p.Ala12777Ser)
c.37762G>T (p.Ala12588Ser)
c.35104G>T (p.Ala11702Ser)
c.35023G>T (p.Ala11675Ser)
c.16786G>T (p.Ala5596Ser)
c.6640G>T (p.Ala2214Ser)
2g.178631157C>GCA349646952TTNc.36187G>C (p.Ala12063Pro)
c.17272G>C (p.Ala5758Pro)
c.17071G>C (p.Ala5691Pro)
c.16696G>C (p.Ala5566Pro)
c.43891G>C (p.Ala14631Pro)
c.38968G>C (p.Ala12990Pro)
c.42988G>C (p.Ala14330Pro)
c.16882G>C (p.Ala5628Pro)
c.16741G>C (p.Ala5581Pro)
c.42784G>C (p.Ala14262Pro)
c.38182G>C (p.Ala12728Pro)
c.38179G>C (p.Ala12727Pro)
c.35221G>C (p.Ala11741Pro)
c.16837G>C (p.Ala5613Pro)
c.38332G>C (p.Ala12778Pro)
c.38329G>C (p.Ala12777Pro)
c.37762G>C (p.Ala12588Pro)
c.35104G>C (p.Ala11702Pro)
c.35023G>C (p.Ala11675Pro)
c.16786G>C (p.Ala5596Pro)
c.6640G>C (p.Ala2214Pro)
2g.178631157C>TCA349646954TTNc.36187G>A (p.Ala12063Thr)
c.17272G>A (p.Ala5758Thr)
c.17071G>A (p.Ala5691Thr)
c.16696G>A (p.Ala5566Thr)
c.43891G>A (p.Ala14631Thr)
c.38968G>A (p.Ala12990Thr)
c.42988G>A (p.Ala14330Thr)
c.16882G>A (p.Ala5628Thr)
c.16741G>A (p.Ala5581Thr)
c.42784G>A (p.Ala14262Thr)
c.38182G>A (p.Ala12728Thr)
c.38179G>A (p.Ala12727Thr)
c.35221G>A (p.Ala11741Thr)
c.16837G>A (p.Ala5613Thr)
c.38332G>A (p.Ala12778Thr)
c.38329G>A (p.Ala12777Thr)
c.37762G>A (p.Ala12588Thr)
c.35104G>A (p.Ala11702Thr)
c.35023G>A (p.Ala11675Thr)
c.16786G>A (p.Ala5596Thr)
c.6640G>A (p.Ala2214Thr)
 gnomAD v4
2g.178631158A>CCA349646956TTNc.36186T>G (p.Asn12062Lys)
c.17271T>G (p.Asn5757Lys)
c.17070T>G (p.Asn5690Lys)
c.16695T>G (p.Asn5565Lys)
c.43890T>G (p.Asn14630Lys)
c.38967T>G (p.Asn12989Lys)
c.42987T>G (p.Asn14329Lys)
c.16881T>G (p.Asn5627Lys)
c.16740T>G (p.Asn5580Lys)
c.42783T>G (p.Asn14261Lys)
c.38181T>G (p.Asn12727Lys)
c.38178T>G (p.Asn12726Lys)
c.35220T>G (p.Asn11740Lys)
c.16836T>G (p.Asn5612Lys)
c.38331T>G (p.Asn12777Lys)
c.38328T>G (p.Asn12776Lys)
c.37761T>G (p.Asn12587Lys)
c.35103T>G (p.Asn11701Lys)
c.35022T>G (p.Asn11674Lys)
c.16785T>G (p.Asn5595Lys)
c.6639T>G (p.Asn2213Lys)
2g.178631158A>GCA430276467TTNc.36186T>C (p.Asn12062=)
c.17271T>C (p.Asn5757=)
c.17070T>C (p.Asn5690=)
c.16695T>C (p.Asn5565=)
c.43890T>C (p.Asn14630=)
c.38967T>C (p.Asn12989=)
c.42987T>C (p.Asn14329=)
c.16881T>C (p.Asn5627=)
c.16740T>C (p.Asn5580=)
c.42783T>C (p.Asn14261=)
c.38181T>C (p.Asn12727=)
c.38178T>C (p.Asn12726=)
c.35220T>C (p.Asn11740=)
c.16836T>C (p.Asn5612=)
c.38331T>C (p.Asn12777=)
c.38328T>C (p.Asn12776=)
c.37761T>C (p.Asn12587=)
c.35103T>C (p.Asn11701=)
c.35022T>C (p.Asn11674=)
c.16785T>C (p.Asn5595=)
c.6639T>C (p.Asn2213=)
 ClinVar
2g.178631158A>TCA349646958TTNc.36186T>A (p.Asn12062Lys)
c.17271T>A (p.Asn5757Lys)
c.17070T>A (p.Asn5690Lys)
c.16695T>A (p.Asn5565Lys)
c.43890T>A (p.Asn14630Lys)
c.38967T>A (p.Asn12989Lys)
c.42987T>A (p.Asn14329Lys)
c.16881T>A (p.Asn5627Lys)
c.16740T>A (p.Asn5580Lys)
c.42783T>A (p.Asn14261Lys)
c.38181T>A (p.Asn12727Lys)
c.38178T>A (p.Asn12726Lys)
c.35220T>A (p.Asn11740Lys)
c.16836T>A (p.Asn5612Lys)
c.38331T>A (p.Asn12777Lys)
c.38328T>A (p.Asn12776Lys)
c.37761T>A (p.Asn12587Lys)
c.35103T>A (p.Asn11701Lys)
c.35022T>A (p.Asn11674Lys)
c.16785T>A (p.Asn5595Lys)
c.6639T>A (p.Asn2213Lys)
2g.178631159T>ACA349646960TTNc.36185A>T (p.Asn12062Ile)
c.17270A>T (p.Asn5757Ile)
c.17069A>T (p.Asn5690Ile)
c.16694A>T (p.Asn5565Ile)
c.43889A>T (p.Asn14630Ile)
c.38966A>T (p.Asn12989Ile)
c.42986A>T (p.Asn14329Ile)
c.16880A>T (p.Asn5627Ile)
c.16739A>T (p.Asn5580Ile)
c.42782A>T (p.Asn14261Ile)
c.38180A>T (p.Asn12727Ile)
c.38177A>T (p.Asn12726Ile)
c.35219A>T (p.Asn11740Ile)
c.16835A>T (p.Asn5612Ile)
c.38330A>T (p.Asn12777Ile)
c.38327A>T (p.Asn12776Ile)
c.37760A>T (p.Asn12587Ile)
c.35102A>T (p.Asn11701Ile)
c.35021A>T (p.Asn11674Ile)
c.16784A>T (p.Asn5595Ile)
c.6638A>T (p.Asn2213Ile)
2g.178631159T>CCA349646962TTNc.36185A>G (p.Asn12062Ser)
c.17270A>G (p.Asn5757Ser)
c.17069A>G (p.Asn5690Ser)
c.16694A>G (p.Asn5565Ser)
c.43889A>G (p.Asn14630Ser)
c.38966A>G (p.Asn12989Ser)
c.42986A>G (p.Asn14329Ser)
c.16880A>G (p.Asn5627Ser)
c.16739A>G (p.Asn5580Ser)
c.42782A>G (p.Asn14261Ser)
c.38180A>G (p.Asn12727Ser)
c.38177A>G (p.Asn12726Ser)
c.35219A>G (p.Asn11740Ser)
c.16835A>G (p.Asn5612Ser)
c.38330A>G (p.Asn12777Ser)
c.38327A>G (p.Asn12776Ser)
c.37760A>G (p.Asn12587Ser)
c.35102A>G (p.Asn11701Ser)
c.35021A>G (p.Asn11674Ser)
c.16784A>G (p.Asn5595Ser)
c.6638A>G (p.Asn2213Ser)
 dbSNP
2g.178631159T>GCA349646964TTNc.36185A>C (p.Asn12062Thr)
c.17270A>C (p.Asn5757Thr)
c.17069A>C (p.Asn5690Thr)
c.16694A>C (p.Asn5565Thr)
c.43889A>C (p.Asn14630Thr)
c.38966A>C (p.Asn12989Thr)
c.42986A>C (p.Asn14329Thr)
c.16880A>C (p.Asn5627Thr)
c.16739A>C (p.Asn5580Thr)
c.42782A>C (p.Asn14261Thr)
c.38180A>C (p.Asn12727Thr)
c.38177A>C (p.Asn12726Thr)
c.35219A>C (p.Asn11740Thr)
c.16835A>C (p.Asn5612Thr)
c.38330A>C (p.Asn12777Thr)
c.38327A>C (p.Asn12776Thr)
c.37760A>C (p.Asn12587Thr)
c.35102A>C (p.Asn11701Thr)
c.35021A>C (p.Asn11674Thr)
c.16784A>C (p.Asn5595Thr)
c.6638A>C (p.Asn2213Thr)
2g.178631159T=CA1310556248TTNc.36185A= (p.Asn12062=)
c.17270A= (p.Asn5757=)
c.17069A= (p.Asn5690=)
c.16694A= (p.Asn5565=)
c.43889A= (p.Asn14630=)
c.38966A= (p.Asn12989=)
c.42986A= (p.Asn14329=)
c.16880A= (p.Asn5627=)
c.16739A= (p.Asn5580=)
c.42782A= (p.Asn14261=)
c.38180A= (p.Asn12727=)
c.38177A= (p.Asn12726=)
c.35219A= (p.Asn11740=)
c.16835A= (p.Asn5612=)
c.38330A= (p.Asn12777=)
c.38327A= (p.Asn12776=)
c.37760A= (p.Asn12587=)
c.35102A= (p.Asn11701=)
c.35021A= (p.Asn11674=)
c.16784A= (p.Asn5595=)
c.6638A= (p.Asn2213=)
2g.178631163delCA2662135465TTNc.36185del (p.Asn12062MetfsTer13)
c.17270del (p.Asn5757MetfsTer13)
c.17069del (p.Asn5690MetfsTer13)
c.16694del (p.Asn5565MetfsTer13)
c.43889del (p.Asn14630MetfsTer13)
c.38966del (p.Asn12989MetfsTer13)
c.42986del (p.Asn14329MetfsTer13)
c.16880del (p.Asn5627MetfsTer13)
c.16739del (p.Asn5580MetfsTer13)
c.42782del (p.Asn14261MetfsTer13)
c.38180del (p.Asn12727MetfsTer13)
c.38177del (p.Asn12726MetfsTer13)
c.35219del (p.Asn11740MetfsTer13)
c.16835del (p.Asn5612MetfsTer13)
c.38330del (p.Asn12777MetfsTer13)
c.38327del (p.Asn12776MetfsTer13)
c.37760del (p.Asn12587MetfsTer13)
c.35102del (p.Asn11701MetfsTer13)
c.35021del (p.Asn11674MetfsTer13)
c.16784del (p.Asn5595MetfsTer13)
c.6638del (p.Asn2213MetfsTer13)
 gnomAD v4
2g.178631160T>ACA349646966TTNc.36184A>T (p.Asn12062Tyr)
c.17269A>T (p.Asn5757Tyr)
c.17068A>T (p.Asn5690Tyr)
c.16693A>T (p.Asn5565Tyr)
c.43888A>T (p.Asn14630Tyr)
c.38965A>T (p.Asn12989Tyr)
c.42985A>T (p.Asn14329Tyr)
c.16879A>T (p.Asn5627Tyr)
c.16738A>T (p.Asn5580Tyr)
c.42781A>T (p.Asn14261Tyr)
c.38179A>T (p.Asn12727Tyr)
c.38176A>T (p.Asn12726Tyr)
c.35218A>T (p.Asn11740Tyr)
c.16834A>T (p.Asn5612Tyr)
c.38329A>T (p.Asn12777Tyr)
c.38326A>T (p.Asn12776Tyr)
c.37759A>T (p.Asn12587Tyr)
c.35101A>T (p.Asn11701Tyr)
c.35020A>T (p.Asn11674Tyr)
c.16783A>T (p.Asn5595Tyr)
c.6637A>T (p.Asn2213Tyr)
2g.178631160T>CCA349646970TTNc.36184A>G (p.Asn12062Asp)
c.17269A>G (p.Asn5757Asp)
c.17068A>G (p.Asn5690Asp)
c.16693A>G (p.Asn5565Asp)
c.43888A>G (p.Asn14630Asp)
c.38965A>G (p.Asn12989Asp)
c.42985A>G (p.Asn14329Asp)
c.16879A>G (p.Asn5627Asp)
c.16738A>G (p.Asn5580Asp)
c.42781A>G (p.Asn14261Asp)
c.38179A>G (p.Asn12727Asp)
c.38176A>G (p.Asn12726Asp)
c.35218A>G (p.Asn11740Asp)
c.16834A>G (p.Asn5612Asp)
c.38329A>G (p.Asn12777Asp)
c.38326A>G (p.Asn12776Asp)
c.37759A>G (p.Asn12587Asp)
c.35101A>G (p.Asn11701Asp)
c.35020A>G (p.Asn11674Asp)
c.16783A>G (p.Asn5595Asp)
c.6637A>G (p.Asn2213Asp)
2g.178631160T>GCA349646968TTNc.36184A>C (p.Asn12062His)
c.17269A>C (p.Asn5757His)
c.17068A>C (p.Asn5690His)
c.16693A>C (p.Asn5565His)
c.43888A>C (p.Asn14630His)
c.38965A>C (p.Asn12989His)
c.42985A>C (p.Asn14329His)
c.16879A>C (p.Asn5627His)
c.16738A>C (p.Asn5580His)
c.42781A>C (p.Asn14261His)
c.38179A>C (p.Asn12727His)
c.38176A>C (p.Asn12726His)
c.35218A>C (p.Asn11740His)
c.16834A>C (p.Asn5612His)
c.38329A>C (p.Asn12777His)
c.38326A>C (p.Asn12776His)
c.37759A>C (p.Asn12587His)
c.35101A>C (p.Asn11701His)
c.35020A>C (p.Asn11674His)
c.16783A>C (p.Asn5595His)
c.6637A>C (p.Asn2213His)
2g.178631161T>ACA349646972TTNc.36183A>T (p.Lys12061Asn)
c.17268A>T (p.Lys5756Asn)
c.17067A>T (p.Lys5689Asn)
c.16692A>T (p.Lys5564Asn)
c.43887A>T (p.Lys14629Asn)
c.38964A>T (p.Lys12988Asn)
c.42984A>T (p.Lys14328Asn)
c.16878A>T (p.Lys5626Asn)
c.16737A>T (p.Lys5579Asn)
c.42780A>T (p.Lys14260Asn)
c.38178A>T (p.Lys12726Asn)
c.38175A>T (p.Lys12725Asn)
c.35217A>T (p.Lys11739Asn)
c.16833A>T (p.Lys5611Asn)
c.38328A>T (p.Lys12776Asn)
c.38325A>T (p.Lys12775Asn)
c.37758A>T (p.Lys12586Asn)
c.35100A>T (p.Lys11700Asn)
c.35019A>T (p.Lys11673Asn)
c.16782A>T (p.Lys5594Asn)
c.6636A>T (p.Lys2212Asn)
2g.178631161T>CCA430276471TTNc.36183A>G (p.Lys12061=)
c.17268A>G (p.Lys5756=)
c.17067A>G (p.Lys5689=)
c.16692A>G (p.Lys5564=)
c.43887A>G (p.Lys14629=)
c.38964A>G (p.Lys12988=)
c.42984A>G (p.Lys14328=)
c.16878A>G (p.Lys5626=)
c.16737A>G (p.Lys5579=)
c.42780A>G (p.Lys14260=)
c.38178A>G (p.Lys12726=)
c.38175A>G (p.Lys12725=)
c.35217A>G (p.Lys11739=)
c.16833A>G (p.Lys5611=)
c.38328A>G (p.Lys12776=)
c.38325A>G (p.Lys12775=)
c.37758A>G (p.Lys12586=)
c.35100A>G (p.Lys11700=)
c.35019A>G (p.Lys11673=)
c.16782A>G (p.Lys5594=)
c.6636A>G (p.Lys2212=)
2g.178631161T>GCA349646973TTNc.36183A>C (p.Lys12061Asn)
c.17268A>C (p.Lys5756Asn)
c.17067A>C (p.Lys5689Asn)
c.16692A>C (p.Lys5564Asn)
c.43887A>C (p.Lys14629Asn)
c.38964A>C (p.Lys12988Asn)
c.42984A>C (p.Lys14328Asn)
c.16878A>C (p.Lys5626Asn)
c.16737A>C (p.Lys5579Asn)
c.42780A>C (p.Lys14260Asn)
c.38178A>C (p.Lys12726Asn)
c.38175A>C (p.Lys12725Asn)
c.35217A>C (p.Lys11739Asn)
c.16833A>C (p.Lys5611Asn)
c.38328A>C (p.Lys12776Asn)
c.38325A>C (p.Lys12775Asn)
c.37758A>C (p.Lys12586Asn)
c.35100A>C (p.Lys11700Asn)
c.35019A>C (p.Lys11673Asn)
c.16782A>C (p.Lys5594Asn)
c.6636A>C (p.Lys2212Asn)
2g.178631162T>ACA349646976TTNc.36182A>T (p.Lys12061Ile)
c.17267A>T (p.Lys5756Ile)
c.17066A>T (p.Lys5689Ile)
c.16691A>T (p.Lys5564Ile)
c.43886A>T (p.Lys14629Ile)
c.38963A>T (p.Lys12988Ile)
c.42983A>T (p.Lys14328Ile)
c.16877A>T (p.Lys5626Ile)
c.16736A>T (p.Lys5579Ile)
c.42779A>T (p.Lys14260Ile)
c.38177A>T (p.Lys12726Ile)
c.38174A>T (p.Lys12725Ile)
c.35216A>T (p.Lys11739Ile)
c.16832A>T (p.Lys5611Ile)
c.38327A>T (p.Lys12776Ile)
c.38324A>T (p.Lys12775Ile)
c.37757A>T (p.Lys12586Ile)
c.35099A>T (p.Lys11700Ile)
c.35018A>T (p.Lys11673Ile)
c.16781A>T (p.Lys5594Ile)
c.6635A>T (p.Lys2212Ile)
2g.178631162T>CCA349646978TTNc.36182A>G (p.Lys12061Arg)
c.17267A>G (p.Lys5756Arg)
c.17066A>G (p.Lys5689Arg)
c.16691A>G (p.Lys5564Arg)
c.43886A>G (p.Lys14629Arg)
c.38963A>G (p.Lys12988Arg)
c.42983A>G (p.Lys14328Arg)
c.16877A>G (p.Lys5626Arg)
c.16736A>G (p.Lys5579Arg)
c.42779A>G (p.Lys14260Arg)
c.38177A>G (p.Lys12726Arg)
c.38174A>G (p.Lys12725Arg)
c.35216A>G (p.Lys11739Arg)
c.16832A>G (p.Lys5611Arg)
c.38327A>G (p.Lys12776Arg)
c.38324A>G (p.Lys12775Arg)
c.37757A>G (p.Lys12586Arg)
c.35099A>G (p.Lys11700Arg)
c.35018A>G (p.Lys11673Arg)
c.16781A>G (p.Lys5594Arg)
c.6635A>G (p.Lys2212Arg)
 gnomAD v4
2g.178631162T>GCA349646979TTNc.36182A>C (p.Lys12061Thr)
c.17267A>C (p.Lys5756Thr)
c.17066A>C (p.Lys5689Thr)
c.16691A>C (p.Lys5564Thr)
c.43886A>C (p.Lys14629Thr)
c.38963A>C (p.Lys12988Thr)
c.42983A>C (p.Lys14328Thr)
c.16877A>C (p.Lys5626Thr)
c.16736A>C (p.Lys5579Thr)
c.42779A>C (p.Lys14260Thr)
c.38177A>C (p.Lys12726Thr)
c.38174A>C (p.Lys12725Thr)
c.35216A>C (p.Lys11739Thr)
c.16832A>C (p.Lys5611Thr)
c.38327A>C (p.Lys12776Thr)
c.38324A>C (p.Lys12775Thr)
c.37757A>C (p.Lys12586Thr)
c.35099A>C (p.Lys11700Thr)
c.35018A>C (p.Lys11673Thr)
c.16781A>C (p.Lys5594Thr)
c.6635A>C (p.Lys2212Thr)
2g.178631163T>ACA349646980TTNc.36181A>T (p.Lys12061Ter)
c.17266A>T (p.Lys5756Ter)
c.17065A>T (p.Lys5689Ter)
c.16690A>T (p.Lys5564Ter)
c.43885A>T (p.Lys14629Ter)
c.38962A>T (p.Lys12988Ter)
c.42982A>T (p.Lys14328Ter)
c.16876A>T (p.Lys5626Ter)
c.16735A>T (p.Lys5579Ter)
c.42778A>T (p.Lys14260Ter)
c.38176A>T (p.Lys12726Ter)
c.38173A>T (p.Lys12725Ter)
c.35215A>T (p.Lys11739Ter)
c.16831A>T (p.Lys5611Ter)
c.38326A>T (p.Lys12776Ter)
c.38323A>T (p.Lys12775Ter)
c.37756A>T (p.Lys12586Ter)
c.35098A>T (p.Lys11700Ter)
c.35017A>T (p.Lys11673Ter)
c.16780A>T (p.Lys5594Ter)
c.6634A>T (p.Lys2212Ter)
2g.178631163T>CCA349646982TTNc.36181A>G (p.Lys12061Glu)
c.17266A>G (p.Lys5756Glu)
c.17065A>G (p.Lys5689Glu)
c.16690A>G (p.Lys5564Glu)
c.43885A>G (p.Lys14629Glu)
c.38962A>G (p.Lys12988Glu)
c.42982A>G (p.Lys14328Glu)
c.16876A>G (p.Lys5626Glu)
c.16735A>G (p.Lys5579Glu)
c.42778A>G (p.Lys14260Glu)
c.38176A>G (p.Lys12726Glu)
c.38173A>G (p.Lys12725Glu)
c.35215A>G (p.Lys11739Glu)
c.16831A>G (p.Lys5611Glu)
c.38326A>G (p.Lys12776Glu)
c.38323A>G (p.Lys12775Glu)
c.37756A>G (p.Lys12586Glu)
c.35098A>G (p.Lys11700Glu)
c.35017A>G (p.Lys11673Glu)
c.16780A>G (p.Lys5594Glu)
c.6634A>G (p.Lys2212Glu)
2g.178631163T>GCA349646984TTNc.36181A>C (p.Lys12061Gln)
c.17266A>C (p.Lys5756Gln)
c.17065A>C (p.Lys5689Gln)
c.16690A>C (p.Lys5564Gln)
c.43885A>C (p.Lys14629Gln)
c.38962A>C (p.Lys12988Gln)
c.42982A>C (p.Lys14328Gln)
c.16876A>C (p.Lys5626Gln)
c.16735A>C (p.Lys5579Gln)
c.42778A>C (p.Lys14260Gln)
c.38176A>C (p.Lys12726Gln)
c.38173A>C (p.Lys12725Gln)
c.35215A>C (p.Lys11739Gln)
c.16831A>C (p.Lys5611Gln)
c.38326A>C (p.Lys12776Gln)
c.38323A>C (p.Lys12775Gln)
c.37756A>C (p.Lys12586Gln)
c.35098A>C (p.Lys11700Gln)
c.35017A>C (p.Lys11673Gln)
c.16780A>C (p.Lys5594Gln)
c.6634A>C (p.Lys2212Gln)
2g.178631164G>ACA430276472TTNc.36180C>T (p.Ser12060=)
c.17265C>T (p.Ser5755=)
c.17064C>T (p.Ser5688=)
c.16689C>T (p.Ser5563=)
c.43884C>T (p.Ser14628=)
c.38961C>T (p.Ser12987=)
c.42981C>T (p.Ser14327=)
c.16875C>T (p.Ser5625=)
c.16734C>T (p.Ser5578=)
c.42777C>T (p.Ser14259=)
c.38175C>T (p.Ser12725=)
c.38172C>T (p.Ser12724=)
c.35214C>T (p.Ser11738=)
c.16830C>T (p.Ser5610=)
c.38325C>T (p.Ser12775=)
c.38322C>T (p.Ser12774=)
c.37755C>T (p.Ser12585=)
c.35097C>T (p.Ser11699=)
c.35016C>T (p.Ser11672=)
c.16779C>T (p.Ser5593=)
c.6633C>T (p.Ser2211=)
 gnomAD v4
2g.178631164G>CCA430276473TTNc.36180C>G (p.Ser12060=)
c.17265C>G (p.Ser5755=)
c.17064C>G (p.Ser5688=)
c.16689C>G (p.Ser5563=)
c.43884C>G (p.Ser14628=)
c.38961C>G (p.Ser12987=)
c.42981C>G (p.Ser14327=)
c.16875C>G (p.Ser5625=)
c.16734C>G (p.Ser5578=)
c.42777C>G (p.Ser14259=)
c.38175C>G (p.Ser12725=)
c.38172C>G (p.Ser12724=)
c.35214C>G (p.Ser11738=)
c.16830C>G (p.Ser5610=)
c.38325C>G (p.Ser12775=)
c.38322C>G (p.Ser12774=)
c.37755C>G (p.Ser12585=)
c.35097C>G (p.Ser11699=)
c.35016C>G (p.Ser11672=)
c.16779C>G (p.Ser5593=)
c.6633C>G (p.Ser2211=)
2g.178631164G>TCA430276474TTNc.36180C>A (p.Ser12060=)
c.17265C>A (p.Ser5755=)
c.17064C>A (p.Ser5688=)
c.16689C>A (p.Ser5563=)
c.43884C>A (p.Ser14628=)
c.38961C>A (p.Ser12987=)
c.42981C>A (p.Ser14327=)
c.16875C>A (p.Ser5625=)
c.16734C>A (p.Ser5578=)
c.42777C>A (p.Ser14259=)
c.38175C>A (p.Ser12725=)
c.38172C>A (p.Ser12724=)
c.35214C>A (p.Ser11738=)
c.16830C>A (p.Ser5610=)
c.38325C>A (p.Ser12775=)
c.38322C>A (p.Ser12774=)
c.37755C>A (p.Ser12585=)
c.35097C>A (p.Ser11699=)
c.35016C>A (p.Ser11672=)
c.16779C>A (p.Ser5593=)
c.6633C>A (p.Ser2211=)
2g.178631165G>ACA349646987TTNc.36179C>T (p.Ser12060Phe)
c.17264C>T (p.Ser5755Phe)
c.17063C>T (p.Ser5688Phe)
c.16688C>T (p.Ser5563Phe)
c.43883C>T (p.Ser14628Phe)
c.38960C>T (p.Ser12987Phe)
c.42980C>T (p.Ser14327Phe)
c.16874C>T (p.Ser5625Phe)
c.16733C>T (p.Ser5578Phe)
c.42776C>T (p.Ser14259Phe)
c.38174C>T (p.Ser12725Phe)
c.38171C>T (p.Ser12724Phe)
c.35213C>T (p.Ser11738Phe)
c.16829C>T (p.Ser5610Phe)
c.38324C>T (p.Ser12775Phe)
c.38321C>T (p.Ser12774Phe)
c.37754C>T (p.Ser12585Phe)
c.35096C>T (p.Ser11699Phe)
c.35015C>T (p.Ser11672Phe)
c.16778C>T (p.Ser5593Phe)
c.6632C>T (p.Ser2211Phe)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178631165G>CCA349646988TTNc.36179C>G (p.Ser12060Cys)
c.17264C>G (p.Ser5755Cys)
c.17063C>G (p.Ser5688Cys)
c.16688C>G (p.Ser5563Cys)
c.43883C>G (p.Ser14628Cys)
c.38960C>G (p.Ser12987Cys)
c.42980C>G (p.Ser14327Cys)
c.16874C>G (p.Ser5625Cys)
c.16733C>G (p.Ser5578Cys)
c.42776C>G (p.Ser14259Cys)
c.38174C>G (p.Ser12725Cys)
c.38171C>G (p.Ser12724Cys)
c.35213C>G (p.Ser11738Cys)
c.16829C>G (p.Ser5610Cys)
c.38324C>G (p.Ser12775Cys)
c.38321C>G (p.Ser12774Cys)
c.37754C>G (p.Ser12585Cys)
c.35096C>G (p.Ser11699Cys)
c.35015C>G (p.Ser11672Cys)
c.16778C>G (p.Ser5593Cys)
c.6632C>G (p.Ser2211Cys)
2g.178631165G>TCA349646990TTNc.36179C>A (p.Ser12060Tyr)
c.17264C>A (p.Ser5755Tyr)
c.17063C>A (p.Ser5688Tyr)
c.16688C>A (p.Ser5563Tyr)
c.43883C>A (p.Ser14628Tyr)
c.38960C>A (p.Ser12987Tyr)
c.42980C>A (p.Ser14327Tyr)
c.16874C>A (p.Ser5625Tyr)
c.16733C>A (p.Ser5578Tyr)
c.42776C>A (p.Ser14259Tyr)
c.38174C>A (p.Ser12725Tyr)
c.38171C>A (p.Ser12724Tyr)
c.35213C>A (p.Ser11738Tyr)
c.16829C>A (p.Ser5610Tyr)
c.38324C>A (p.Ser12775Tyr)
c.38321C>A (p.Ser12774Tyr)
c.37754C>A (p.Ser12585Tyr)
c.35096C>A (p.Ser11699Tyr)
c.35015C>A (p.Ser11672Tyr)
c.16778C>A (p.Ser5593Tyr)
c.6632C>A (p.Ser2211Tyr)
2g.178631166A>CCA349646995TTNc.36178T>G (p.Ser12060Ala)
c.17263T>G (p.Ser5755Ala)
c.17062T>G (p.Ser5688Ala)
c.16687T>G (p.Ser5563Ala)
c.43882T>G (p.Ser14628Ala)
c.38959T>G (p.Ser12987Ala)
c.42979T>G (p.Ser14327Ala)
c.16873T>G (p.Ser5625Ala)
c.16732T>G (p.Ser5578Ala)
c.42775T>G (p.Ser14259Ala)
c.38173T>G (p.Ser12725Ala)
c.38170T>G (p.Ser12724Ala)
c.35212T>G (p.Ser11738Ala)
c.16828T>G (p.Ser5610Ala)
c.38323T>G (p.Ser12775Ala)
c.38320T>G (p.Ser12774Ala)
c.37753T>G (p.Ser12585Ala)
c.35095T>G (p.Ser11699Ala)
c.35014T>G (p.Ser11672Ala)
c.16777T>G (p.Ser5593Ala)
c.6631T>G (p.Ser2211Ala)
2g.178631166A>GCA349646994TTNc.36178T>C (p.Ser12060Pro)
c.17263T>C (p.Ser5755Pro)
c.17062T>C (p.Ser5688Pro)
c.16687T>C (p.Ser5563Pro)
c.43882T>C (p.Ser14628Pro)
c.38959T>C (p.Ser12987Pro)
c.42979T>C (p.Ser14327Pro)
c.16873T>C (p.Ser5625Pro)
c.16732T>C (p.Ser5578Pro)
c.42775T>C (p.Ser14259Pro)
c.38173T>C (p.Ser12725Pro)
c.38170T>C (p.Ser12724Pro)
c.35212T>C (p.Ser11738Pro)
c.16828T>C (p.Ser5610Pro)
c.38323T>C (p.Ser12775Pro)
c.38320T>C (p.Ser12774Pro)
c.37753T>C (p.Ser12585Pro)
c.35095T>C (p.Ser11699Pro)
c.35014T>C (p.Ser11672Pro)
c.16777T>C (p.Ser5593Pro)
c.6631T>C (p.Ser2211Pro)
2g.178631166A>TCA349646992TTNc.36178T>A (p.Ser12060Thr)
c.17263T>A (p.Ser5755Thr)
c.17062T>A (p.Ser5688Thr)
c.16687T>A (p.Ser5563Thr)
c.43882T>A (p.Ser14628Thr)
c.38959T>A (p.Ser12987Thr)
c.42979T>A (p.Ser14327Thr)
c.16873T>A (p.Ser5625Thr)
c.16732T>A (p.Ser5578Thr)
c.42775T>A (p.Ser14259Thr)
c.38173T>A (p.Ser12725Thr)
c.38170T>A (p.Ser12724Thr)
c.35212T>A (p.Ser11738Thr)
c.16828T>A (p.Ser5610Thr)
c.38323T>A (p.Ser12775Thr)
c.38320T>A (p.Ser12774Thr)
c.37753T>A (p.Ser12585Thr)
c.35095T>A (p.Ser11699Thr)
c.35014T>A (p.Ser11672Thr)
c.16777T>A (p.Ser5593Thr)
c.6631T>A (p.Ser2211Thr)
2g.178631167T>ACA430276477TTNc.36177A>T (p.Pro12059=)
c.17262A>T (p.Pro5754=)
c.17061A>T (p.Pro5687=)
c.16686A>T (p.Pro5562=)
c.43881A>T (p.Pro14627=)
c.38958A>T (p.Pro12986=)
c.42978A>T (p.Pro14326=)
c.16872A>T (p.Pro5624=)
c.16731A>T (p.Pro5577=)
c.42774A>T (p.Pro14258=)
c.38172A>T (p.Pro12724=)
c.38169A>T (p.Pro12723=)
c.35211A>T (p.Pro11737=)
c.16827A>T (p.Pro5609=)
c.38322A>T (p.Pro12774=)
c.38319A>T (p.Pro12773=)
c.37752A>T (p.Pro12584=)
c.35094A>T (p.Pro11698=)
c.35013A>T (p.Pro11671=)
c.16776A>T (p.Pro5592=)
c.6630A>T (p.Pro2210=)
 gnomAD v4
2g.178631167T>CCA430276478TTNc.36177A>G (p.Pro12059=)
c.17262A>G (p.Pro5754=)
c.17061A>G (p.Pro5687=)
c.16686A>G (p.Pro5562=)
c.43881A>G (p.Pro14627=)
c.38958A>G (p.Pro12986=)
c.42978A>G (p.Pro14326=)
c.16872A>G (p.Pro5624=)
c.16731A>G (p.Pro5577=)
c.42774A>G (p.Pro14258=)
c.38172A>G (p.Pro12724=)
c.38169A>G (p.Pro12723=)
c.35211A>G (p.Pro11737=)
c.16827A>G (p.Pro5609=)
c.38322A>G (p.Pro12774=)
c.38319A>G (p.Pro12773=)
c.37752A>G (p.Pro12584=)
c.35094A>G (p.Pro11698=)
c.35013A>G (p.Pro11671=)
c.16776A>G (p.Pro5592=)
c.6630A>G (p.Pro2210=)
2g.178631167T>GCA430276479TTNc.36177A>C (p.Pro12059=)
c.17262A>C (p.Pro5754=)
c.17061A>C (p.Pro5687=)
c.16686A>C (p.Pro5562=)
c.43881A>C (p.Pro14627=)
c.38958A>C (p.Pro12986=)
c.42978A>C (p.Pro14326=)
c.16872A>C (p.Pro5624=)
c.16731A>C (p.Pro5577=)
c.42774A>C (p.Pro14258=)
c.38172A>C (p.Pro12724=)
c.38169A>C (p.Pro12723=)
c.35211A>C (p.Pro11737=)
c.16827A>C (p.Pro5609=)
c.38322A>C (p.Pro12774=)
c.38319A>C (p.Pro12773=)
c.37752A>C (p.Pro12584=)
c.35094A>C (p.Pro11698=)
c.35013A>C (p.Pro11671=)
c.16776A>C (p.Pro5592=)
c.6630A>C (p.Pro2210=)
2g.178631168G>ACA349647000TTNc.36176C>T (p.Pro12059Leu)
c.17261C>T (p.Pro5754Leu)
c.17060C>T (p.Pro5687Leu)
c.16685C>T (p.Pro5562Leu)
c.43880C>T (p.Pro14627Leu)
c.38957C>T (p.Pro12986Leu)
c.42977C>T (p.Pro14326Leu)
c.16871C>T (p.Pro5624Leu)
c.16730C>T (p.Pro5577Leu)
c.42773C>T (p.Pro14258Leu)
c.38171C>T (p.Pro12724Leu)
c.38168C>T (p.Pro12723Leu)
c.35210C>T (p.Pro11737Leu)
c.16826C>T (p.Pro5609Leu)
c.38321C>T (p.Pro12774Leu)
c.38318C>T (p.Pro12773Leu)
c.37751C>T (p.Pro12584Leu)
c.35093C>T (p.Pro11698Leu)
c.35012C>T (p.Pro11671Leu)
c.16775C>T (p.Pro5592Leu)
c.6629C>T (p.Pro2210Leu)
2g.178631168G>CCA349646997TTNc.36176C>G (p.Pro12059Arg)
c.17261C>G (p.Pro5754Arg)
c.17060C>G (p.Pro5687Arg)
c.16685C>G (p.Pro5562Arg)
c.43880C>G (p.Pro14627Arg)
c.38957C>G (p.Pro12986Arg)
c.42977C>G (p.Pro14326Arg)
c.16871C>G (p.Pro5624Arg)
c.16730C>G (p.Pro5577Arg)
c.42773C>G (p.Pro14258Arg)
c.38171C>G (p.Pro12724Arg)
c.38168C>G (p.Pro12723Arg)
c.35210C>G (p.Pro11737Arg)
c.16826C>G (p.Pro5609Arg)
c.38321C>G (p.Pro12774Arg)
c.38318C>G (p.Pro12773Arg)
c.37751C>G (p.Pro12584Arg)
c.35093C>G (p.Pro11698Arg)
c.35012C>G (p.Pro11671Arg)
c.16775C>G (p.Pro5592Arg)
c.6629C>G (p.Pro2210Arg)
2g.178631168G>TCA349646999TTNc.36176C>A (p.Pro12059Gln)
c.17261C>A (p.Pro5754Gln)
c.17060C>A (p.Pro5687Gln)
c.16685C>A (p.Pro5562Gln)
c.43880C>A (p.Pro14627Gln)
c.38957C>A (p.Pro12986Gln)
c.42977C>A (p.Pro14326Gln)
c.16871C>A (p.Pro5624Gln)
c.16730C>A (p.Pro5577Gln)
c.42773C>A (p.Pro14258Gln)
c.38171C>A (p.Pro12724Gln)
c.38168C>A (p.Pro12723Gln)
c.35210C>A (p.Pro11737Gln)
c.16826C>A (p.Pro5609Gln)
c.38321C>A (p.Pro12774Gln)
c.38318C>A (p.Pro12773Gln)
c.37751C>A (p.Pro12584Gln)
c.35093C>A (p.Pro11698Gln)
c.35012C>A (p.Pro11671Gln)
c.16775C>A (p.Pro5592Gln)
c.6629C>A (p.Pro2210Gln)
2g.178631169G>ACA349647003TTNc.36175C>T (p.Pro12059Ser)
c.17260C>T (p.Pro5754Ser)
c.17059C>T (p.Pro5687Ser)
c.16684C>T (p.Pro5562Ser)
c.43879C>T (p.Pro14627Ser)
c.38956C>T (p.Pro12986Ser)
c.42976C>T (p.Pro14326Ser)
c.16870C>T (p.Pro5624Ser)
c.16729C>T (p.Pro5577Ser)
c.42772C>T (p.Pro14258Ser)
c.38170C>T (p.Pro12724Ser)
c.38167C>T (p.Pro12723Ser)
c.35209C>T (p.Pro11737Ser)
c.16825C>T (p.Pro5609Ser)
c.38320C>T (p.Pro12774Ser)
c.38317C>T (p.Pro12773Ser)
c.37750C>T (p.Pro12584Ser)
c.35092C>T (p.Pro11698Ser)
c.35011C>T (p.Pro11671Ser)
c.16774C>T (p.Pro5592Ser)
c.6628C>T (p.Pro2210Ser)
2g.178631169G>CCA349647004TTNc.36175C>G (p.Pro12059Ala)
c.17260C>G (p.Pro5754Ala)
c.17059C>G (p.Pro5687Ala)
c.16684C>G (p.Pro5562Ala)
c.43879C>G (p.Pro14627Ala)
c.38956C>G (p.Pro12986Ala)
c.42976C>G (p.Pro14326Ala)
c.16870C>G (p.Pro5624Ala)
c.16729C>G (p.Pro5577Ala)
c.42772C>G (p.Pro14258Ala)
c.38170C>G (p.Pro12724Ala)
c.38167C>G (p.Pro12723Ala)
c.35209C>G (p.Pro11737Ala)
c.16825C>G (p.Pro5609Ala)
c.38320C>G (p.Pro12774Ala)
c.38317C>G (p.Pro12773Ala)
c.37750C>G (p.Pro12584Ala)
c.35092C>G (p.Pro11698Ala)
c.35011C>G (p.Pro11671Ala)
c.16774C>G (p.Pro5592Ala)
c.6628C>G (p.Pro2210Ala)
2g.178631169G>TCA349647006TTNc.36175C>A (p.Pro12059Thr)
c.17260C>A (p.Pro5754Thr)
c.17059C>A (p.Pro5687Thr)
c.16684C>A (p.Pro5562Thr)
c.43879C>A (p.Pro14627Thr)
c.38956C>A (p.Pro12986Thr)
c.42976C>A (p.Pro14326Thr)
c.16870C>A (p.Pro5624Thr)
c.16729C>A (p.Pro5577Thr)
c.42772C>A (p.Pro14258Thr)
c.38170C>A (p.Pro12724Thr)
c.38167C>A (p.Pro12723Thr)
c.35209C>A (p.Pro11737Thr)
c.16825C>A (p.Pro5609Thr)
c.38320C>A (p.Pro12774Thr)
c.38317C>A (p.Pro12773Thr)
c.37750C>A (p.Pro12584Thr)
c.35092C>A (p.Pro11698Thr)
c.35011C>A (p.Pro11671Thr)
c.16774C>A (p.Pro5592Thr)
c.6628C>A (p.Pro2210Thr)
2g.178631170C>ACA349647008TTNc.36174G>T (p.Lys12058Asn)
c.17259G>T (p.Lys5753Asn)
c.17058G>T (p.Lys5686Asn)
c.16683G>T (p.Lys5561Asn)
c.43878G>T (p.Lys14626Asn)
c.38955G>T (p.Lys12985Asn)
c.42975G>T (p.Lys14325Asn)
c.16869G>T (p.Lys5623Asn)
c.16728G>T (p.Lys5576Asn)
c.42771G>T (p.Lys14257Asn)
c.38169G>T (p.Lys12723Asn)
c.38166G>T (p.Lys12722Asn)
c.35208G>T (p.Lys11736Asn)
c.16824G>T (p.Lys5608Asn)
c.38319G>T (p.Lys12773Asn)
c.38316G>T (p.Lys12772Asn)
c.37749G>T (p.Lys12583Asn)
c.35091G>T (p.Lys11697Asn)
c.35010G>T (p.Lys11670Asn)
c.16773G>T (p.Lys5591Asn)
c.6627G>T (p.Lys2209Asn)
2g.178631170C=CA1310556249TTNc.36174G= (p.Lys12058=)
c.17259G= (p.Lys5753=)
c.17058G= (p.Lys5686=)
c.16683G= (p.Lys5561=)
c.43878G= (p.Lys14626=)
c.38955G= (p.Lys12985=)
c.42975G= (p.Lys14325=)
c.16869G= (p.Lys5623=)
c.16728G= (p.Lys5576=)
c.42771G= (p.Lys14257=)
c.38169G= (p.Lys12723=)
c.38166G= (p.Lys12722=)
c.35208G= (p.Lys11736=)
c.16824G= (p.Lys5608=)
c.38319G= (p.Lys12773=)
c.38316G= (p.Lys12772=)
c.37749G= (p.Lys12583=)
c.35091G= (p.Lys11697=)
c.35010G= (p.Lys11670=)
c.16773G= (p.Lys5591=)
c.6627G= (p.Lys2209=)
2g.178631170C>GCA349647010TTNc.36174G>C (p.Lys12058Asn)
c.17259G>C (p.Lys5753Asn)
c.17058G>C (p.Lys5686Asn)
c.16683G>C (p.Lys5561Asn)
c.43878G>C (p.Lys14626Asn)
c.38955G>C (p.Lys12985Asn)
c.42975G>C (p.Lys14325Asn)
c.16869G>C (p.Lys5623Asn)
c.16728G>C (p.Lys5576Asn)
c.42771G>C (p.Lys14257Asn)
c.38169G>C (p.Lys12723Asn)
c.38166G>C (p.Lys12722Asn)
c.35208G>C (p.Lys11736Asn)
c.16824G>C (p.Lys5608Asn)
c.38319G>C (p.Lys12773Asn)
c.38316G>C (p.Lys12772Asn)
c.37749G>C (p.Lys12583Asn)
c.35091G>C (p.Lys11697Asn)
c.35010G>C (p.Lys11670Asn)
c.16773G>C (p.Lys5591Asn)
c.6627G>C (p.Lys2209Asn)
2g.178631170C>TCA61001587TTNc.36174G>A (p.Lys12058=)
c.17259G>A (p.Lys5753=)
c.17058G>A (p.Lys5686=)
c.16683G>A (p.Lys5561=)
c.43878G>A (p.Lys14626=)
c.38955G>A (p.Lys12985=)
c.42975G>A (p.Lys14325=)
c.16869G>A (p.Lys5623=)
c.16728G>A (p.Lys5576=)
c.42771G>A (p.Lys14257=)
c.38169G>A (p.Lys12723=)
c.38166G>A (p.Lys12722=)
c.35208G>A (p.Lys11736=)
c.16824G>A (p.Lys5608=)
c.38319G>A (p.Lys12773=)
c.38316G>A (p.Lys12772=)
c.37749G>A (p.Lys12583=)
c.35091G>A (p.Lys11697=)
c.35010G>A (p.Lys11670=)
c.16773G>A (p.Lys5591=)
c.6627G>A (p.Lys2209=)
 dbSNP gnomAD v4
2g.178631171T>ACA349647012TTNc.36173A>T (p.Lys12058Met)
c.17258A>T (p.Lys5753Met)
c.17057A>T (p.Lys5686Met)
c.16682A>T (p.Lys5561Met)
c.43877A>T (p.Lys14626Met)
c.38954A>T (p.Lys12985Met)
c.42974A>T (p.Lys14325Met)
c.16868A>T (p.Lys5623Met)
c.16727A>T (p.Lys5576Met)
c.42770A>T (p.Lys14257Met)
c.38168A>T (p.Lys12723Met)
c.38165A>T (p.Lys12722Met)
c.35207A>T (p.Lys11736Met)
c.16823A>T (p.Lys5608Met)
c.38318A>T (p.Lys12773Met)
c.38315A>T (p.Lys12772Met)
c.37748A>T (p.Lys12583Met)
c.35090A>T (p.Lys11697Met)
c.35009A>T (p.Lys11670Met)
c.16772A>T (p.Lys5591Met)
c.6626A>T (p.Lys2209Met)

Number of alleles fetched