Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.43100512G>ACA376770150RETc.127G>A (p.Asp43Asn)
c.29G>A
c.74-10695G>A (n.74-10695G>A)
c.74-11587G>A (n.74-11587G>A)
 dbSNP
10g.43100512G>CCA376770151RETc.127G>C (p.Asp43His)
c.29G>C
c.74-10695G>C (n.74-10695G>C)
c.74-11587G>C (n.74-11587G>C)
 dbSNP
10g.43100512G=CA1905836774RETc.127G= (p.Asp43=)
c.29G=
c.74-10695G= (n.74-10695G=)
c.74-11587G= (n.74-11587G=)
10g.43100512G>TCA376770152RETc.127G>T (p.Asp43Tyr)
c.29G>T
c.74-10695G>T (n.74-10695G>T)
c.74-11587G>T (n.74-11587G>T)
 dbSNP
10g.43100513A>CCA376770155RETc.128A>C (p.Asp43Ala)
c.30A>C
c.74-10694A>C (n.74-10694A>C)
c.74-11586A>C (n.74-11586A>C)
 dbSNP
10g.43100513A>GCA376770153RETc.128A>G (p.Asp43Gly)
c.30A>G
c.74-10694A>G (n.74-10694A>G)
c.74-11586A>G (n.74-11586A>G)
 dbSNP
10g.43100513A>TCA376770154RETc.128A>T (p.Asp43Val)
c.30A>T
c.74-10694A>T (n.74-10694A>T)
c.74-11586A>T (n.74-11586A>T)
10g.43100514C>ACA376770156RETc.129C>A (p.Asp43Glu)
c.31C>A
c.74-10693C>A (n.74-10693C>A)
c.74-11585C>A (n.74-11585C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43100514C=CA1905836775RETc.129C= (p.Asp43=)
c.31C=
c.74-10693C= (n.74-10693C=)
c.74-11585C= (n.74-11585C=)
10g.43100514C>GCA376770157RETc.129C>G (p.Asp43Glu)
c.31C>G
c.74-10693C>G (n.74-10693C>G)
c.74-11585C>G (n.74-11585C>G)
 ClinVar dbSNP
10g.43100514C>TCA469490405RETc.129C>T (p.Asp43=)
c.31C>T
c.74-10693C>T (n.74-10693C>T)
c.74-11585C>T (n.74-11585C>T)
 dbSNP
10g.43100515C>ACA376770158RETc.130C>A (p.Gln44Lys)
c.32C>A
c.74-10692C>A (n.74-10692C>A)
c.74-11584C>A (n.74-11584C>A)
10g.43100515C>GCA376770159RETc.130C>G (p.Gln44Glu)
c.32C>G
c.74-10692C>G (n.74-10692C>G)
c.74-11584C>G (n.74-11584C>G)
 dbSNP
10g.43100515C>TCA376770160RETc.130C>T (p.Gln44Ter)
c.32C>T
c.74-10692C>T (n.74-10692C>T)
c.74-11584C>T (n.74-11584C>T)
 dbSNP
10g.43100516A>CCA376770161RETc.131A>C (p.Gln44Pro)
c.33A>C
c.74-10691A>C (n.74-10691A>C)
c.74-11583A>C (n.74-11583A>C)
 dbSNP
10g.43100516A>GCA376770162RETc.131A>G (p.Gln44Arg)
c.33A>G
c.74-10691A>G (n.74-10691A>G)
c.74-11583A>G (n.74-11583A>G)
 dbSNP
10g.43100516A>TCA376770163RETc.131A>T (p.Gln44Leu)
c.33A>T
c.74-10691A>T (n.74-10691A>T)
c.74-11583A>T (n.74-11583A>T)
 dbSNP
10g.43100517G>ACA469490414RETc.132G>A (p.Gln44=)
c.34G>A
c.74-10690G>A (n.74-10690G>A)
c.74-11582G>A (n.74-11582G>A)
 dbSNP
10g.43100517G>CCA376770164RETc.132G>C (p.Gln44His)
c.34G>C
c.74-10690G>C (n.74-10690G>C)
c.74-11582G>C (n.74-11582G>C)
 ClinVar dbSNP
10g.43100517G>TCA376770165RETc.132G>T (p.Gln44His)
c.34G>T
c.74-10690G>T (n.74-10690G>T)
c.74-11582G>T (n.74-11582G>T)
 dbSNP
10g.43100518G>ACA376770168RETc.133G>A (p.Ala45Thr)
c.35G>A
c.74-10689G>A (n.74-10689G>A)
c.74-11581G>A (n.74-11581G>A)
 ClinVar dbSNP
10g.43100518G>CCA376770167RETc.133G>C (p.Ala45Pro)
c.35G>C
c.74-10689G>C (n.74-10689G>C)
c.74-11581G>C (n.74-11581G>C)
 dbSNP
10g.43100518G>TCA376770166RETc.133G>T (p.Ala45Ser)
c.35G>T
c.74-10689G>T (n.74-10689G>T)
c.74-11581G>T (n.74-11581G>T)
10g.43100519C>ACA376770169RETc.134C>A (p.Ala45Glu)
c.36C>A
c.74-10688C>A (n.74-10688C>A)
c.74-11580C>A (n.74-11580C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.43100519C=CA1905836776RETc.134C= (p.Ala45=)
c.36C=
c.74-10688C= (n.74-10688C=)
c.74-11580C= (n.74-11580C=)
10g.43100519C>GCA376770170RETc.134C>G (p.Ala45Gly)
c.36C>G
c.74-10688C>G (n.74-10688C>G)
c.74-11580C>G (n.74-11580C>G)
10g.43100519C>TCA033180RETc.134C>T (p.Ala45Val)
c.36C>T
c.74-10688C>T (n.74-10688C>T)
c.74-11580C>T (n.74-11580C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100519_43100520delinsCACA1905836777RETc.134_135delinsCA (p.Ala45=)
c.36_37delinsCA
c.74-10688_74-10687delinsCA (n.74-10688_74-10687delinsCA)
c.74-11580_74-11579delinsCA (n.74-11580_74-11579delinsCA)
10g.43100519_43100520delinsTGCA1905836778RETc.134_135delinsTG (p.Ala45Val)
c.36_37delinsTG
c.74-10688_74-10687delinsTG (n.74-10688_74-10687delinsTG)
c.74-11580_74-11579delinsTG (n.74-11580_74-11579delinsTG)
 dbSNP
10g.43100520A=CA007550RETc.135A= (p.Ala45=)
c.37A=
c.74-10687A= (n.74-10687A=)
c.74-11579A= (n.74-11579A=)
10g.43100520A>CCA469490417RETc.135A>C (p.Ala45=)
c.37A>C
c.74-10687A>C (n.74-10687A>C)
c.74-11579A>C (n.74-11579A>C)
 dbSNP
10g.43100520A>GCA009515RETc.135A>G (p.Ala45=)
c.37A>G
c.74-10687A>G (n.74-10687A>G)
c.74-11579A>G (n.74-11579A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100520A>TCA469490418RETc.135A>T (p.Ala45=)
c.37A>T
c.74-10687A>T (n.74-10687A>T)
c.74-11579A>T (n.74-11579A>T)
 ClinVar dbSNP
10g.43100520_43100521delinsGTCA2580081468RETc.135_136delinsGT (p.Ala46Ser)
c.37_38delinsGT
c.74-10687_74-10686delinsGT (n.74-10687_74-10686delinsGT)
c.74-11579_74-11578delinsGT (n.74-11579_74-11578delinsGT)
 ClinVar
10g.43100521G>ACA376770171RETc.136G>A (p.Ala46Thr)
c.38G>A
c.74-10686G>A (n.74-10686G>A)
c.74-11578G>A (n.74-11578G>A)
 dbSNP
10g.43100521G>CCA376770172RETc.136G>C (p.Ala46Pro)
c.38G>C
c.74-10686G>C (n.74-10686G>C)
c.74-11578G>C (n.74-11578G>C)
 dbSNP gnomAD v2 gnomAD v4
10g.43100521G=CA1905836779RETc.136G= (p.Ala46=)
c.38G=
c.74-10686G= (n.74-10686G=)
c.74-11578G= (n.74-11578G=)
10g.43100521G>TCA376770173RETc.136G>T (p.Ala46Ser)
c.38G>T
c.74-10686G>T (n.74-10686G>T)
c.74-11578G>T (n.74-11578G>T)
 ClinVar dbSNP
10g.43100522C>ACA376770174RETc.137C>A (p.Ala46Asp)
c.39C>A
c.74-10685C>A (n.74-10685C>A)
c.74-11577C>A (n.74-11577C>A)
 dbSNP
10g.43100522C=CA1905836780RETc.137C= (p.Ala46=)
c.39C=
c.74-10685C= (n.74-10685C=)
c.74-11577C= (n.74-11577C=)
10g.43100522C>GCA376770175RETc.137C>G (p.Ala46Gly)
c.39C>G
c.74-10685C>G (n.74-10685C>G)
c.74-11577C>G (n.74-11577C>G)
 dbSNP
10g.43100522C>TCA376770176RETc.137C>T (p.Ala46Val)
c.39C>T
c.74-10685C>T (n.74-10685C>T)
c.74-11577C>T (n.74-11577C>T)
 ClinVar dbSNP
10g.43100523C>ACA469490425RETc.138C>A (p.Ala46=)
c.40C>A
c.74-10684C>A (n.74-10684C>A)
c.74-11576C>A (n.74-11576C>A)
 dbSNP
10g.43100523C=CA1905836781RETc.138C= (p.Ala46=)
c.40C=
c.74-10684C= (n.74-10684C=)
c.74-11576C= (n.74-11576C=)
10g.43100523C>GCA469490426RETc.138C>G (p.Ala46=)
c.40C>G
c.74-10684C>G (n.74-10684C>G)
c.74-11576C>G (n.74-11576C>G)
 dbSNP
10g.43100523C>TCA469490428RETc.138C>T (p.Ala46=)
c.40C>T
c.74-10684C>T (n.74-10684C>T)
c.74-11576C>T (n.74-11576C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43100524G>ACA033463RETc.139G>A (p.Gly47Ser)
c.41G>A
c.74-10683G>A (n.74-10683G>A)
c.74-11575G>A (n.74-11575G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.43100524G>CCA376770178RETc.139G>C (p.Gly47Arg)
c.41G>C
c.74-10683G>C (n.74-10683G>C)
c.74-11575G>C (n.74-11575G>C)
 ClinVar dbSNP
10g.43100524G=CA1905836782RETc.139G= (p.Gly47=)
c.41G=
c.74-10683G= (n.74-10683G=)
c.74-11575G= (n.74-11575G=)
10g.43100524G>TCA376770177RETc.139G>T (p.Gly47Cys)
c.41G>T
c.74-10683G>T (n.74-10683G>T)
c.74-11575G>T (n.74-11575G>T)
 dbSNP
10g.43100525G>ACA376770179RETc.140G>A (p.Gly47Asp)
c.42G>A
c.74-10682G>A (n.74-10682G>A)
c.74-11574G>A (n.74-11574G>A)
 dbSNP
10g.43100525G>CCA376770180RETc.140G>C (p.Gly47Ala)
c.42G>C
c.74-10682G>C (n.74-10682G>C)
c.74-11574G>C (n.74-11574G>C)
 dbSNP
10g.43100525G>TCA376770181RETc.140G>T (p.Gly47Val)
c.42G>T
c.74-10682G>T (n.74-10682G>T)
c.74-11574G>T (n.74-11574G>T)
10g.43100526C>ACA469490440RETc.141C>A (p.Gly47=)
c.43C>A
c.74-10681C>A (n.74-10681C>A)
c.74-11573C>A (n.74-11573C>A)
 dbSNP
10g.43100526C>GCA469490442RETc.141C>G (p.Gly47=)
c.43C>G
c.74-10681C>G (n.74-10681C>G)
c.74-11573C>G (n.74-11573C>G)
 dbSNP
10g.43100526C>TCA469490441RETc.141C>T (p.Gly47=)
c.43C>T
c.74-10681C>T (n.74-10681C>T)
c.74-11573C>T (n.74-11573C>T)
 dbSNP
10g.43100527A>CCA376770182RETc.142A>C (p.Thr48Pro)
c.44A>C
c.74-10680A>C (n.74-10680A>C)
c.74-11572A>C (n.74-11572A>C)
 dbSNP
10g.43100527A>GCA376770183RETc.142A>G (p.Thr48Ala)
c.44A>G
c.74-10680A>G (n.74-10680A>G)
c.74-11572A>G (n.74-11572A>G)
 dbSNP
10g.43100527A>TCA376770184RETc.142A>T (p.Thr48Ser)
c.44A>T
c.74-10680A>T (n.74-10680A>T)
c.74-11572A>T (n.74-11572A>T)
 dbSNP
10g.43100528C>ACA376770185RETc.143C>A (p.Thr48Lys)
c.45C>A
c.74-10679C>A (n.74-10679C>A)
c.74-11571C>A (n.74-11571C>A)
10g.43100528C=CA1905836783RETc.143C= (p.Thr48=)
c.45C=
c.74-10679C= (n.74-10679C=)
c.74-11571C= (n.74-11571C=)
10g.43100528C>GCA376770186RETc.143C>G (p.Thr48Arg)
c.45C>G
c.74-10679C>G (n.74-10679C>G)
c.74-11571C>G (n.74-11571C>G)
 dbSNP
10g.43100528C>TCA376770187RETc.143C>T (p.Thr48Met)
c.45C>T
c.74-10679C>T (n.74-10679C>T)
c.74-11571C>T (n.74-11571C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
10g.43100529G>ACA033685RETc.144G>A (p.Thr48=)
c.46G>A
c.74-10678G>A (n.74-10678G>A)
c.74-11570G>A (n.74-11570G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.43100529G>CCA469490451RETc.144G>C (p.Thr48=)
c.46G>C
c.74-10678G>C (n.74-10678G>C)
c.74-11570G>C (n.74-11570G>C)
 dbSNP
10g.43100529G=CA1905836784RETc.144G= (p.Thr48=)
c.46G=
c.74-10678G= (n.74-10678G=)
c.74-11570G= (n.74-11570G=)
10g.43100529G>TCA469490452RETc.144G>T (p.Thr48=)
c.46G>T
c.74-10678G>T (n.74-10678G>T)
c.74-11570G>T (n.74-11570G>T)
 ClinVar dbSNP
10g.43100530C>ACA376770188RETc.145C>A (p.Pro49Thr)
c.47C>A
c.74-10677C>A (n.74-10677C>A)
c.74-11569C>A (n.74-11569C>A)
10g.43100530C>GCA376770189RETc.145C>G (p.Pro49Ala)
c.47C>G
c.74-10677C>G (n.74-10677C>G)
c.74-11569C>G (n.74-11569C>G)
 dbSNP
10g.43100530C>TCA376770190RETc.145C>T (p.Pro49Ser)
c.47C>T
c.74-10677C>T (n.74-10677C>T)
c.74-11569C>T (n.74-11569C>T)
 dbSNP
10g.43100531C>ACA376770192RETc.146C>A (p.Pro49His)
c.48C>A
c.74-10676C>A (n.74-10676C>A)
c.74-11568C>A (n.74-11568C>A)
10g.43100531C>GCA376770193RETc.146C>G (p.Pro49Arg)
c.48C>G
c.74-10676C>G (n.74-10676C>G)
c.74-11568C>G (n.74-11568C>G)
10g.43100531C>TCA376770191RETc.146C>T (p.Pro49Leu)
c.48C>T
c.74-10676C>T (n.74-10676C>T)
c.74-11568C>T (n.74-11568C>T)
10g.43100532C>ACA469490457RETc.147C>A (p.Pro49=)
c.49C>A
c.74-10675C>A (n.74-10675C>A)
c.74-11567C>A (n.74-11567C>A)
 dbSNP
10g.43100532C=CA1905836785RETc.147C= (p.Pro49=)
c.49C=
c.74-10675C= (n.74-10675C=)
c.74-11567C= (n.74-11567C=)
10g.43100532C>GCA469490459RETc.147C>G (p.Pro49=)
c.49C>G
c.74-10675C>G (n.74-10675C>G)
c.74-11567C>G (n.74-11567C>G)
 ClinVar dbSNP
10g.43100532C>TCA469490460RETc.147C>T (p.Pro49=)
c.49C>T
c.74-10675C>T (n.74-10675C>T)
c.74-11567C>T (n.74-11567C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.43100533T>ACA376770195RETc.148T>A (p.Leu50Met)
c.50T>A
c.74-10674T>A (n.74-10674T>A)
c.74-11566T>A (n.74-11566T>A)
 dbSNP
10g.43100533T>CCA469490462RETc.148T>C (p.Leu50=)
c.50T>C
c.74-10674T>C (n.74-10674T>C)
c.74-11566T>C (n.74-11566T>C)
 dbSNP
10g.43100533T>GCA376770194RETc.148T>G (p.Leu50Val)
c.50T>G
c.74-10674T>G (n.74-10674T>G)
c.74-11566T>G (n.74-11566T>G)
10g.43100534T>ACA376770196RETc.149T>A (p.Leu50Ter)
c.51T>A
c.74-10673T>A (n.74-10673T>A)
c.74-11565T>A (n.74-11565T>A)
10g.43100534T>CCA376770197RETc.149T>C (p.Leu50Ser)
c.51T>C
c.74-10673T>C (n.74-10673T>C)
c.74-11565T>C (n.74-11565T>C)
10g.43100534T>GCA376770198RETc.149T>G (p.Leu50Trp)
c.51T>G
c.74-10673T>G (n.74-10673T>G)
c.74-11565T>G (n.74-11565T>G)
10g.43100535G>ACA469490464RETc.150G>A (p.Leu50=)
c.52G>A
c.74-10672G>A (n.74-10672G>A)
c.74-11564G>A (n.74-11564G>A)
 dbSNP
10g.43100535G>CCA376770199RETc.150G>C (p.Leu50Phe)
c.52G>C
c.74-10672G>C (n.74-10672G>C)
c.74-11564G>C (n.74-11564G>C)
 dbSNP
10g.43100535G>TCA376770200RETc.150G>T (p.Leu50Phe)
c.52G>T
c.74-10672G>T (n.74-10672G>T)
c.74-11564G>T (n.74-11564G>T)
 dbSNP
10g.43100536C>ACA376770201RETc.151C>A (p.Leu51Met)
c.53C>A
c.74-10671C>A (n.74-10671C>A)
c.74-11563C>A (n.74-11563C>A)
 dbSNP
10g.43100536C>GCA376770202RETc.151C>G (p.Leu51Val)
c.53C>G
c.74-10671C>G (n.74-10671C>G)
c.74-11563C>G (n.74-11563C>G)
 dbSNP
10g.43100536C>TCA469490468RETc.151C>T (p.Leu51=)
c.53C>T
c.74-10671C>T (n.74-10671C>T)
c.74-11563C>T (n.74-11563C>T)
 dbSNP COSMIC COSMIC
10g.43100537T>ACA376770203RETc.152T>A (p.Leu51Gln)
c.54T>A
c.74-10670T>A (n.74-10670T>A)
c.74-11562T>A (n.74-11562T>A)
 dbSNP
10g.43100537T>CCA376770204RETc.152T>C (p.Leu51Pro)
c.54T>C
c.74-10670T>C (n.74-10670T>C)
c.74-11562T>C (n.74-11562T>C)
 dbSNP
10g.43100537T>GCA376770205RETc.152T>G (p.Leu51Arg)
c.54T>G
c.74-10670T>G (n.74-10670T>G)
c.74-11562T>G (n.74-11562T>G)
10g.43100538G>ACA469490469RETc.153G>A (p.Leu51=)
c.55G>A
c.74-10669G>A (n.74-10669G>A)
c.74-11561G>A (n.74-11561G>A)
 ClinVar dbSNP gnomAD v4
10g.43100538G>CCA469490472RETc.153G>C (p.Leu51=)
c.55G>C
c.74-10669G>C (n.74-10669G>C)
c.74-11561G>C (n.74-11561G>C)
 ClinVar dbSNP gnomAD v4
10g.43100538G=CA1905836786RETc.153G= (p.Leu51=)
c.55G=
c.74-10669G= (n.74-10669G=)
c.74-11561G= (n.74-11561G=)
10g.43100538G>TCA469490470RETc.153G>T (p.Leu51=)
c.55G>T
c.74-10669G>T (n.74-10669G>T)
c.74-11561G>T (n.74-11561G>T)
10g.43100540_43100543delCA2695211966RETc.155_158del (p.Tyr52SerfsTer?)
c.57_60del
c.74-10667_74-10664del (n.74-10667_74-10664del)
c.74-11559_74-11556del (n.74-11559_74-11556del)
10g.43100539T>ACA376770208RETc.154T>A (p.Tyr52Asn)
c.56T>A
c.74-10668T>A (n.74-10668T>A)
c.74-11560T>A (n.74-11560T>A)
 dbSNP
10g.43100539T>CCA376770207RETc.154T>C (p.Tyr52His)
c.56T>C
c.74-10668T>C (n.74-10668T>C)
c.74-11560T>C (n.74-11560T>C)
 ClinVar dbSNP
10g.43100539T>GCA376770206RETc.154T>G (p.Tyr52Asp)
c.56T>G
c.74-10668T>G (n.74-10668T>G)
c.74-11560T>G (n.74-11560T>G)
 dbSNP
10g.43100540A>CCA376770209RETc.155A>C (p.Tyr52Ser)
c.57A>C
c.74-10667A>C (n.74-10667A>C)
c.74-11559A>C (n.74-11559A>C)
 ClinVar dbSNP
10g.43100540A>GCA376770210RETc.155A>G (p.Tyr52Cys)
c.57A>G
c.74-10667A>G (n.74-10667A>G)
c.74-11559A>G (n.74-11559A>G)
 dbSNP
10g.43100540A>TCA376770211RETc.155A>T (p.Tyr52Phe)
c.57A>T
c.74-10667A>T (n.74-10667A>T)
c.74-11559A>T (n.74-11559A>T)
 dbSNP
10g.43100541C>ACA376770212RETc.156C>A (p.Tyr52Ter)
c.58C>A
c.74-10666C>A (n.74-10666C>A)
c.74-11558C>A (n.74-11558C>A)
 dbSNP
10g.43100541C=CA1905836787RETc.156C= (p.Tyr52=)
c.58C=
c.74-10666C= (n.74-10666C=)
c.74-11558C= (n.74-11558C=)
10g.43100541C>GCA376770213RETc.156C>G (p.Tyr52Ter)
c.58C>G
c.74-10666C>G (n.74-10666C>G)
c.74-11558C>G (n.74-11558C>G)
 dbSNP
10g.43100541C>TCA206713120RETc.156C>T (p.Tyr52=)
c.58C>T
c.74-10666C>T (n.74-10666C>T)
c.74-11558C>T (n.74-11558C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.43100542G>ACA034527RETc.157G>A (p.Val53Ile)
c.59G>A
c.74-10665G>A (n.74-10665G>A)
c.74-11557G>A (n.74-11557G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100542G>CCA376770214RETc.157G>C (p.Val53Leu)
c.59G>C
c.74-10665G>C (n.74-10665G>C)
c.74-11557G>C (n.74-11557G>C)
 dbSNP
10g.43100542G=CA1905836788RETc.157G= (p.Val53=)
c.59G=
c.74-10665G= (n.74-10665G=)
c.74-11557G= (n.74-11557G=)
10g.43100542G>TCA376770215RETc.157G>T (p.Val53Phe)
c.59G>T
c.74-10665G>T (n.74-10665G>T)
c.74-11557G>T (n.74-11557G>T)
10g.43100543T>ACA376770216RETc.158T>A (p.Val53Asp)
c.60T>A
c.74-10664T>A (n.74-10664T>A)
c.74-11556T>A (n.74-11556T>A)
10g.43100543T>CCA376770217RETc.158T>C (p.Val53Ala)
c.60T>C
c.74-10664T>C (n.74-10664T>C)
c.74-11556T>C (n.74-11556T>C)
 ClinVar dbSNP
10g.43100543T>GCA376770218RETc.158T>G (p.Val53Gly)
c.60T>G
c.74-10664T>G (n.74-10664T>G)
c.74-11556T>G (n.74-11556T>G)
 COSMIC COSMIC
10g.43100544C>ACA469490478RETc.159C>A (p.Val53=)
c.61C>A
c.74-10663C>A (n.74-10663C>A)
c.74-11555C>A (n.74-11555C>A)
10g.43100544C=CA1905836789RETc.159C= (p.Val53=)
c.61C=
c.74-10663C= (n.74-10663C=)
c.74-11555C= (n.74-11555C=)
10g.43100544C>GCA469490479RETc.159C>G (p.Val53=)
c.61C>G
c.74-10663C>G (n.74-10663C>G)
c.74-11555C>G (n.74-11555C>G)
 ClinVar
10g.43100544C>TCA034592RETc.159C>T (p.Val53=)
c.61C>T
c.74-10663C>T (n.74-10663C>T)
c.74-11555C>T (n.74-11555C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100545C>ACA376770220RETc.160C>A (p.His54Asn)
c.62C>A
c.74-10662C>A (n.74-10662C>A)
c.74-11554C>A (n.74-11554C>A)
 dbSNP
10g.43100545C>GCA376770221RETc.160C>G (p.His54Asp)
c.62C>G
c.74-10662C>G (n.74-10662C>G)
c.74-11554C>G (n.74-11554C>G)
 dbSNP
10g.43100545C>TCA376770219RETc.160C>T (p.His54Tyr)
c.62C>T
c.74-10662C>T (n.74-10662C>T)
c.74-11554C>T (n.74-11554C>T)
 ClinVar dbSNP
10g.43100546A=CA1905836790RETc.161A= (p.His54=)
c.63A=
c.74-10661A= (n.74-10661A=)
c.74-11553A= (n.74-11553A=)
10g.43100546A>CCA376770222RETc.161A>C (p.His54Pro)
c.63A>C
c.74-10661A>C (n.74-10661A>C)
c.74-11553A>C (n.74-11553A>C)
 dbSNP
10g.43100546A>GCA034670RETc.161A>G (p.His54Arg)
c.63A>G
c.74-10661A>G (n.74-10661A>G)
c.74-11553A>G (n.74-11553A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100546A>TCA376770223RETc.161A>T (p.His54Leu)
c.63A>T
c.74-10661A>T (n.74-10661A>T)
c.74-11553A>T (n.74-11553A>T)
 dbSNP
10g.43100547delCA913185932RETc.162del (p.His54GlnfsTer?)
c.64del
c.74-10660del (n.74-10660del)
c.74-11552del (n.74-11552del)
10g.43100547T>ACA376770224RETc.162T>A (p.His54Gln)
c.64T>A
c.74-10660T>A (n.74-10660T>A)
c.74-11552T>A (n.74-11552T>A)
 dbSNP
10g.43100547T>CCA469490485RETc.162T>C (p.His54=)
c.64T>C
c.74-10660T>C (n.74-10660T>C)
c.74-11552T>C (n.74-11552T>C)
 ClinVar dbSNP
10g.43100547T>GCA376770225RETc.162T>G (p.His54Gln)
c.64T>G
c.74-10660T>G (n.74-10660T>G)
c.74-11552T>G (n.74-11552T>G)
 dbSNP
10g.43100547_43100549delinsGGCA913185933RETc.162_164delinsGG (p.His54GlnfsTer?)
c.64_66delinsGG
c.74-10660_74-10658delinsGG (n.74-10660_74-10658delinsGG)
c.74-11552_74-11550delinsGG (n.74-11552_74-11550delinsGG)
10g.43100548G>ACA376770226RETc.163G>A (p.Ala55Thr)
c.65G>A
c.74-10659G>A (n.74-10659G>A)
c.74-11551G>A (n.74-11551G>A)
 dbSNP
10g.43100548G>CCA376770227RETc.163G>C (p.Ala55Pro)
c.65G>C
c.74-10659G>C (n.74-10659G>C)
c.74-11551G>C (n.74-11551G>C)
 dbSNP
10g.43100548G>TCA376770228RETc.163G>T (p.Ala55Ser)
c.65G>T
c.74-10659G>T (n.74-10659G>T)
c.74-11551G>T (n.74-11551G>T)
10g.43100549C>ACA376770229RETc.164C>A (p.Ala55Asp)
c.66C>A
c.74-10658C>A (n.74-10658C>A)
c.74-11550C>A (n.74-11550C>A)
 dbSNP
10g.43100549C=CA1905836791RETc.164C= (p.Ala55=)
c.66C=
c.74-10658C= (n.74-10658C=)
c.74-11550C= (n.74-11550C=)
10g.43100549C>GCA376770230RETc.164C>G (p.Ala55Gly)
c.66C>G
c.74-10658C>G (n.74-10658C>G)
c.74-11550C>G (n.74-11550C>G)
 dbSNP
10g.43100549C>TCA376770231RETc.164C>T (p.Ala55Val)
c.66C>T
c.74-10658C>T (n.74-10658C>T)
c.74-11550C>T (n.74-11550C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43100550C>ACA469490493RETc.165C>A (p.Ala55=)
c.67C>A
c.74-10657C>A (n.74-10657C>A)
c.74-11549C>A (n.74-11549C>A)
 dbSNP
10g.43100550C=CA1905836792RETc.165C= (p.Ala55=)
c.67C=
c.74-10657C= (n.74-10657C=)
c.74-11549C= (n.74-11549C=)
10g.43100550C>GCA034946RETc.165C>G (p.Ala55=)
c.67C>G
c.74-10657C>G (n.74-10657C>G)
c.74-11549C>G (n.74-11549C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100550C>TCA469490494RETc.165C>T (p.Ala55=)
c.67C>T
c.74-10657C>T (n.74-10657C>T)
c.74-11549C>T (n.74-11549C>T)
 dbSNP
10g.43100551C>ACA007702RETc.166C>A (p.Leu56Met)
c.68C>A
c.74-10656C>A (n.74-10656C>A)
c.74-11548C>A (n.74-11548C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100551C=CA1905836793RETc.166C= (p.Leu56=)
c.68C=
c.74-10656C= (n.74-10656C=)
c.74-11548C= (n.74-11548C=)
10g.43100551C>GCA376770232RETc.166C>G (p.Leu56Val)
c.68C>G
c.74-10656C>G (n.74-10656C>G)
c.74-11548C>G (n.74-11548C>G)
 dbSNP
10g.43100551C>TCA035002RETc.166C>T (p.Leu56=)
c.68C>T
c.74-10656C>T (n.74-10656C>T)
c.74-11548C>T (n.74-11548C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100552T>ACA376770233RETc.167T>A (p.Leu56Gln)
c.69T>A
c.74-10655T>A (n.74-10655T>A)
c.74-11547T>A (n.74-11547T>A)
 dbSNP
10g.43100552T>CCA376770234RETc.167T>C (p.Leu56Pro)
c.69T>C
c.74-10655T>C (n.74-10655T>C)
c.74-11547T>C (n.74-11547T>C)
 dbSNP
10g.43100552T>GCA376770235RETc.167T>G (p.Leu56Arg)
c.69T>G
c.74-10655T>G (n.74-10655T>G)
c.74-11547T>G (n.74-11547T>G)
10g.43100553G>ACA469490504RETc.168G>A (p.Leu56=)
c.70G>A
c.74-10654G>A (n.74-10654G>A)
c.74-11546G>A (n.74-11546G>A)
 dbSNP
10g.43100553G>CCA469490502RETc.168G>C (p.Leu56=)
c.70G>C
c.74-10654G>C (n.74-10654G>C)
c.74-11546G>C (n.74-11546G>C)
 dbSNP
10g.43100553G>TCA469490503RETc.168G>T (p.Leu56=)
c.70G>T
c.74-10654G>T (n.74-10654G>T)
c.74-11546G>T (n.74-11546G>T)
10g.43100554C>ACA469490506RETc.169C>A (p.Arg57=)
c.71C>A
c.74-10653C>A (n.74-10653C>A)
c.74-11545C>A (n.74-11545C>A)
 dbSNP
10g.43100554C=CA1905836794RETc.169C= (p.Arg57=)
c.71C=
c.74-10653C= (n.74-10653C=)
c.74-11545C= (n.74-11545C=)
10g.43100554C>GCA376770236RETc.169C>G (p.Arg57Gly)
c.71C>G
c.74-10653C>G (n.74-10653C>G)
c.74-11545C>G (n.74-11545C>G)
 ClinVar dbSNP
10g.43100554C>TCA10578857RETc.169C>T (p.Arg57Trp)
c.71C>T
c.74-10653C>T (n.74-10653C>T)
c.74-11545C>T (n.74-11545C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43100555G>ACA035162RETc.170G>A (p.Arg57Gln)
c.72G>A
c.74-10652G>A (n.74-10652G>A)
c.74-11544G>A (n.74-11544G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100555G>CCA376770238RETc.170G>C (p.Arg57Pro)
c.72G>C
c.74-10652G>C (n.74-10652G>C)
c.74-11544G>C (n.74-11544G>C)
10g.43100555G=CA1905836795RETc.170G= (p.Arg57=)
c.72G=
c.74-10652G= (n.74-10652G=)
c.74-11544G= (n.74-11544G=)
10g.43100555G>TCA376770237RETc.170G>T (p.Arg57Leu)
c.72G>T
c.74-10652G>T (n.74-10652G>T)
c.74-11544G>T (n.74-11544G>T)
10g.43100557delCA891842070RETc.172del (p.Asp58ThrfsTer?)
c.74del
c.74-10650del (n.74-10650del)
c.74-11542del (n.74-11542del)
10g.43100556G>ACA469490509RETc.171G>A (p.Arg57=)
c.73G>A
c.74-10651G>A (n.74-10651G>A)
c.74-11543G>A (n.74-11543G>A)
 ClinVar dbSNP
10g.43100556G>CCA469490510RETc.171G>C (p.Arg57=)
c.73G>C
c.74-10651G>C (n.74-10651G>C)
c.74-11543G>C (n.74-11543G>C)
 dbSNP
10g.43100556G>TCA469490512RETc.171G>T (p.Arg57=)
c.73G>T
c.74-10651G>T (n.74-10651G>T)
c.74-11543G>T (n.74-11543G>T)
 dbSNP
10g.43100557G>ACA376770239RETc.172G>A (p.Asp58Asn)
c.74G>A
c.74-10650G>A (n.74-10650G>A)
c.74-11542G>A (n.74-11542G>A)
 ClinVar dbSNP gnomAD v2
10g.43100557G>CCA376770240RETc.172G>C (p.Asp58His)
c.74G>C
c.74-10650G>C (n.74-10650G>C)
c.74-11542G>C (n.74-11542G>C)
 dbSNP
10g.43100557G=CA1905836796RETc.172G= (p.Asp58=)
c.74G=
c.74-10650G= (n.74-10650G=)
c.74-11542G= (n.74-11542G=)
10g.43100557G>TCA376770241RETc.172G>T (p.Asp58Tyr)
c.74G>T
c.74-10650G>T (n.74-10650G>T)
c.74-11542G>T (n.74-11542G>T)
 dbSNP
10g.43100558A>CCA376770242RETc.173A>C (p.Asp58Ala)
c.75A>C
c.74-10649A>C (n.74-10649A>C)
c.74-11541A>C (n.74-11541A>C)
 dbSNP
10g.43100558A>GCA376770243RETc.173A>G (p.Asp58Gly)
c.75A>G
c.74-10649A>G (n.74-10649A>G)
c.74-11541A>G (n.74-11541A>G)
 dbSNP
10g.43100558A>TCA376770244RETc.173A>T (p.Asp58Val)
c.75A>T
c.74-10649A>T (n.74-10649A>T)
c.74-11541A>T (n.74-11541A>T)
 dbSNP
10g.43100559C>ACA376770246RETc.174C>A (p.Asp58Glu)
c.76C>A
c.74-10648C>A (n.74-10648C>A)
c.74-11540C>A (n.74-11540C>A)
10g.43100559C=CA1905836797RETc.174C= (p.Asp58=)
c.76C=
c.74-10648C= (n.74-10648C=)
c.74-11540C= (n.74-11540C=)
10g.43100559C>GCA376770245RETc.174C>G (p.Asp58Glu)
c.76C>G
c.74-10648C>G (n.74-10648C>G)
c.74-11540C>G (n.74-11540C>G)
 dbSNP
10g.43100559C>TCA035259RETc.174C>T (p.Asp58=)
c.76C>T
c.74-10648C>T (n.74-10648C>T)
c.74-11540C>T (n.74-11540C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100560G>ACA035435RETc.175G>A (p.Ala59Thr)
c.77G>A
c.74-10647G>A (n.74-10647G>A)
c.74-11539G>A (n.74-11539G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100560G>CCA376770248RETc.175G>C (p.Ala59Pro)
c.77G>C
c.74-10647G>C (n.74-10647G>C)
c.74-11539G>C (n.74-11539G>C)
 dbSNP
10g.43100560G=CA1905836798RETc.175G= (p.Ala59=)
c.77G=
c.74-10647G= (n.74-10647G=)
c.74-11539G= (n.74-11539G=)
10g.43100560G>TCA376770247RETc.175G>T (p.Ala59Ser)
c.77G>T
c.74-10647G>T (n.74-10647G>T)
c.74-11539G>T (n.74-11539G>T)
 gnomAD v4
10g.43100561C>ACA376770249RETc.176C>A (p.Ala59Asp)
c.78C>A
c.74-10646C>A (n.74-10646C>A)
c.74-11538C>A (n.74-11538C>A)
10g.43100561C=CA1905836799RETc.176C= (p.Ala59=)
c.78C=
c.74-10646C= (n.74-10646C=)
c.74-11538C= (n.74-11538C=)
10g.43100561C>GCA376770250RETc.176C>G (p.Ala59Gly)
c.78C>G
c.74-10646C>G (n.74-10646C>G)
c.74-11538C>G (n.74-11538C>G)
10g.43100561C>TCA376770251RETc.176C>T (p.Ala59Val)
c.78C>T
c.74-10646C>T (n.74-10646C>T)
c.74-11538C>T (n.74-11538C>T)
 ClinVar dbSNP
10g.43100562C>ACA035632RETc.177C>A (p.Ala59=)
c.79C>A
c.74-10645C>A (n.74-10645C>A)
c.74-11537C>A (n.74-11537C>A)
 ClinVar dbSNP ExAC gnomAD v2
10g.43100562C=CA1905836800RETc.177C= (p.Ala59=)
c.79C=
c.74-10645C= (n.74-10645C=)
c.74-11537C= (n.74-11537C=)
10g.43100562C>GCA469490525RETc.177C>G (p.Ala59=)
c.79C>G
c.74-10645C>G (n.74-10645C>G)
c.74-11537C>G (n.74-11537C>G)
 ClinVar dbSNP gnomAD v4
10g.43100562C>TCA469490524RETc.177C>T (p.Ala59=)
c.79C>T
c.74-10645C>T (n.74-10645C>T)
c.74-11537C>T (n.74-11537C>T)
 dbSNP
10g.43100563C>ACA16613047RETc.178C>A (p.Pro60Thr)
c.80C>A
c.74-10644C>A (n.74-10644C>A)
c.74-11536C>A (n.74-11536C>A)
 ClinVar dbSNP
10g.43100563C=CA1905836801RETc.178C= (p.Pro60=)
c.80C=
c.74-10644C= (n.74-10644C=)
c.74-11536C= (n.74-11536C=)
10g.43100563C>GCA376770252RETc.178C>G (p.Pro60Ala)
c.80C>G
c.74-10644C>G (n.74-10644C>G)
c.74-11536C>G (n.74-11536C>G)
 dbSNP
10g.43100563C>TCA035676RETc.178C>T (p.Pro60Ser)
c.80C>T
c.74-10644C>T (n.74-10644C>T)
c.74-11536C>T (n.74-11536C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100564C>ACA376770253RETc.179C>A (p.Pro60His)
c.81C>A
c.74-10643C>A (n.74-10643C>A)
c.74-11535C>A (n.74-11535C>A)
 dbSNP
10g.43100564C=CA1905836802RETc.179C= (p.Pro60=)
c.81C=
c.74-10643C= (n.74-10643C=)
c.74-11535C= (n.74-11535C=)
10g.43100564C>GCA376770254RETc.179C>G (p.Pro60Arg)
c.81C>G
c.74-10643C>G (n.74-10643C>G)
c.74-11535C>G (n.74-11535C>G)
 dbSNP
10g.43100564C>TCA376770255RETc.179C>T (p.Pro60Leu)
c.81C>T
c.74-10643C>T (n.74-10643C>T)
c.74-11535C>T (n.74-11535C>T)
 ClinVar dbSNP gnomAD v4
10g.43100565delCA2695211967RETc.180del (p.Glu61ArgfsTer?)
c.82del
c.74-10642del (n.74-10642del)
c.74-11534del (n.74-11534del)
10g.43100565T>ACA469490536RETc.180T>A (p.Pro60=)
c.82T>A
c.74-10642T>A (n.74-10642T>A)
c.74-11534T>A (n.74-11534T>A)
10g.43100565T>CCA469490531RETc.180T>C (p.Pro60=)
c.82T>C
c.74-10642T>C (n.74-10642T>C)
c.74-11534T>C (n.74-11534T>C)
 gnomAD v4
10g.43100565T>GCA469490533RETc.180T>G (p.Pro60=)
c.82T>G
c.74-10642T>G (n.74-10642T>G)
c.74-11534T>G (n.74-11534T>G)
 ClinVar dbSNP
10g.43100566G>ACA376770256RETc.181G>A (p.Glu61Lys)
c.83G>A
c.74-10641G>A (n.74-10641G>A)
c.74-11533G>A (n.74-11533G>A)
 ClinVar dbSNP
10g.43100566G>CCA376770257RETc.181G>C (p.Glu61Gln)
c.83G>C
c.74-10641G>C (n.74-10641G>C)
c.74-11533G>C (n.74-11533G>C)
 dbSNP
10g.43100566G=CA1905836803RETc.181G= (p.Glu61=)
c.83G=
c.74-10641G= (n.74-10641G=)
c.74-11533G= (n.74-11533G=)
10g.43100566G>TCA376770258RETc.181G>T (p.Glu61Ter)
c.83G>T
c.74-10641G>T (n.74-10641G>T)
c.74-11533G>T (n.74-11533G>T)
 dbSNP
10g.43100567A=CA1905836804RETc.182A= (p.Glu61=)
c.84A=
c.74-10640A= (n.74-10640A=)
c.74-11532A= (n.74-11532A=)
10g.43100567A>CCA376770261RETc.182A>C (p.Glu61Ala)
c.84A>C
c.74-10640A>C (n.74-10640A>C)
c.74-11532A>C (n.74-11532A>C)
 ClinVar dbSNP
10g.43100567A>GCA376770260RETc.182A>G (p.Glu61Gly)
c.84A>G
c.74-10640A>G (n.74-10640A>G)
c.74-11532A>G (n.74-11532A>G)
10g.43100567A>TCA376770259RETc.182A>T (p.Glu61Val)
c.84A>T
c.74-10640A>T (n.74-10640A>T)
c.74-11532A>T (n.74-11532A>T)
 dbSNP
10g.43100568G>ACA469490543RETc.183G>A (p.Glu61=)
c.85G>A
c.74-10639G>A (n.74-10639G>A)
c.74-11531G>A (n.74-11531G>A)
 ClinVar dbSNP gnomAD v2
10g.43100568G>CCA16622049RETc.183G>C (p.Glu61Asp)
c.85G>C
c.74-10639G>C (n.74-10639G>C)
c.74-11531G>C (n.74-11531G>C)
 ClinVar dbSNP gnomAD v4
10g.43100568G=CA1905836805RETc.183G= (p.Glu61=)
c.85G=
c.74-10639G= (n.74-10639G=)
c.74-11531G= (n.74-11531G=)
10g.43100568G>TCA376770262RETc.183G>T (p.Glu61Asp)
c.85G>T
c.74-10639G>T (n.74-10639G>T)
c.74-11531G>T (n.74-11531G>T)
 dbSNP
10g.43100569G>ACA376770263RETc.184G>A (p.Glu62Lys)
c.86G>A
c.74-10638G>A (n.74-10638G>A)
c.74-11530G>A (n.74-11530G>A)
 dbSNP COSMIC COSMIC
10g.43100569G>CCA376770264RETc.184G>C (p.Glu62Gln)
c.86G>C
c.74-10638G>C (n.74-10638G>C)
c.74-11530G>C (n.74-11530G>C)
 dbSNP
10g.43100569G>TCA376770265RETc.184G>T (p.Glu62Ter)
c.86G>T
c.74-10638G>T (n.74-10638G>T)
c.74-11530G>T (n.74-11530G>T)
 dbSNP
10g.43100570A>CCA376770266RETc.185A>C (p.Glu62Ala)
c.87A>C
c.74-10637A>C (n.74-10637A>C)
c.74-11529A>C (n.74-11529A>C)
10g.43100570A>GCA376770267RETc.185A>G (p.Glu62Gly)
c.87A>G
c.74-10637A>G (n.74-10637A>G)
c.74-11529A>G (n.74-11529A>G)
 dbSNP
10g.43100570A>TCA376770268RETc.185A>T (p.Glu62Val)
c.87A>T
c.74-10637A>T (n.74-10637A>T)
c.74-11529A>T (n.74-11529A>T)
 dbSNP
10g.43100571G>ACA469490547RETc.186G>A (p.Glu62=)
c.88G>A
c.74-10636G>A (n.74-10636G>A)
c.74-11528G>A (n.74-11528G>A)
 ClinVar dbSNP gnomAD v4
10g.43100571G>CCA376770269RETc.186G>C (p.Glu62Asp)
c.88G>C
c.74-10636G>C (n.74-10636G>C)
c.74-11528G>C (n.74-11528G>C)
 ClinVar dbSNP
10g.43100571G=CA1905836806RETc.186G= (p.Glu62=)
c.88G=
c.74-10636G= (n.74-10636G=)
c.74-11528G= (n.74-11528G=)
10g.43100571G>TCA376770270RETc.186G>T (p.Glu62Asp)
c.88G>T
c.74-10636G>T (n.74-10636G>T)
c.74-11528G>T (n.74-11528G>T)
10g.43100572G>ACA376770271RETc.187G>A (p.Val63Met)
c.89G>A
c.74-10635G>A (n.74-10635G>A)
c.74-11527G>A (n.74-11527G>A)
 ClinVar dbSNP
10g.43100572G>CCA376770272RETc.187G>C (p.Val63Leu)
c.89G>C
c.74-10635G>C (n.74-10635G>C)
c.74-11527G>C (n.74-11527G>C)
 dbSNP
10g.43100572G=CA1905836807RETc.187G= (p.Val63=)
c.89G=
c.74-10635G= (n.74-10635G=)
c.74-11527G= (n.74-11527G=)
10g.43100572G>TCA036079RETc.187G>T (p.Val63Leu)
c.89G>T
c.74-10635G>T (n.74-10635G>T)
c.74-11527G>T (n.74-11527G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100573T>ACA376770274RETc.188T>A (p.Val63Glu)
c.90T>A
c.74-10634T>A (n.74-10634T>A)
c.74-11526T>A (n.74-11526T>A)
 dbSNP
10g.43100573T>CCA376770275RETc.188T>C (p.Val63Ala)
c.90T>C
c.74-10634T>C (n.74-10634T>C)
c.74-11526T>C (n.74-11526T>C)
 dbSNP
10g.43100573T>GCA376770273RETc.188T>G (p.Val63Gly)
c.90T>G
c.74-10634T>G (n.74-10634T>G)
c.74-11526T>G (n.74-11526T>G)
 dbSNP
10g.43100574G>ACA036415RETc.189G>A (p.Val63=)
c.91G>A
c.74-10633G>A (n.74-10633G>A)
c.74-11525G>A (n.74-11525G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100574G>CCA469490556RETc.189G>C (p.Val63=)
c.91G>C
c.74-10633G>C (n.74-10633G>C)
c.74-11525G>C (n.74-11525G>C)
10g.43100574G=CA1905836808RETc.189G= (p.Val63=)
c.91G=
c.74-10633G= (n.74-10633G=)
c.74-11525G= (n.74-11525G=)
10g.43100574G>TCA469490555RETc.189G>T (p.Val63=)
c.91G>T
c.74-10633G>T (n.74-10633G>T)
c.74-11525G>T (n.74-11525G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43100575C>ACA376770276RETc.190C>A (p.Pro64Thr)
c.92C>A
c.74-10632C>A (n.74-10632C>A)
c.74-11524C>A (n.74-11524C>A)
 dbSNP
10g.43100575C>GCA376770277RETc.190C>G (p.Pro64Ala)
c.92C>G
c.74-10632C>G (n.74-10632C>G)
c.74-11524C>G (n.74-11524C>G)
 dbSNP
10g.43100575C>TCA376770278RETc.190C>T (p.Pro64Ser)
c.92C>T
c.74-10632C>T (n.74-10632C>T)
c.74-11524C>T (n.74-11524C>T)
 ClinVar dbSNP
10g.43100576C>ACA376770279RETc.191C>A (p.Pro64His)
c.93C>A
c.74-10631C>A (n.74-10631C>A)
c.74-11523C>A (n.74-11523C>A)
 dbSNP
10g.43100576C=CA1905836809RETc.191C= (p.Pro64=)
c.93C=
c.74-10631C= (n.74-10631C=)
c.74-11523C= (n.74-11523C=)
10g.43100576C>GCA376770280RETc.191C>G (p.Pro64Arg)
c.93C>G
c.74-10631C>G (n.74-10631C>G)
c.74-11523C>G (n.74-11523C>G)
 dbSNP
10g.43100576C>TCA008426RETc.191C>T (p.Pro64Leu)
c.93C>T
c.74-10631C>T (n.74-10631C>T)
c.74-11523C>T (n.74-11523C>T)
 ClinVar dbSNP
10g.43100577C>ACA469490559RETc.192C>A (p.Pro64=)
c.94C>A
c.74-10630C>A (n.74-10630C>A)
c.74-11522C>A (n.74-11522C>A)
 dbSNP
10g.43100577C=CA1905836810RETc.192C= (p.Pro64=)
c.94C=
c.74-10630C= (n.74-10630C=)
c.74-11522C= (n.74-11522C=)
10g.43100577C>GCA469490562RETc.192C>G (p.Pro64=)
c.94C>G
c.74-10630C>G (n.74-10630C>G)
c.74-11522C>G (n.74-11522C>G)
 dbSNP
10g.43100577C>TCA469490564RETc.192C>T (p.Pro64=)
c.94C>T
c.74-10630C>T (n.74-10630C>T)
c.74-11522C>T (n.74-11522C>T)
 ClinVar dbSNP gnomAD v4
10g.43100578A=CA1905836811RETc.193A= (p.Ser65=)
c.95A=
c.74-10629A= (n.74-10629A=)
c.74-11521A= (n.74-11521A=)
10g.43100578A>CCA376770281RETc.193A>C (p.Ser65Arg)
c.95A>C
c.74-10629A>C (n.74-10629A>C)
c.74-11521A>C (n.74-11521A>C)
 dbSNP
10g.43100578A>GCA376770282RETc.193A>G (p.Ser65Gly)
c.95A>G
c.74-10629A>G (n.74-10629A>G)
c.74-11521A>G (n.74-11521A>G)
 ClinVar dbSNP
10g.43100578A>TCA376770283RETc.193A>T (p.Ser65Cys)
c.95A>T
c.74-10629A>T (n.74-10629A>T)
c.74-11521A>T (n.74-11521A>T)
 ClinVar dbSNP
10g.43100579G>ACA376770284RETc.194G>A (p.Ser65Asn)
c.96G>A
c.74-10628G>A (n.74-10628G>A)
c.74-11520G>A (n.74-11520G>A)
 dbSNP
10g.43100579G>CCA376770285RETc.194G>C (p.Ser65Thr)
c.96G>C
c.74-10628G>C (n.74-10628G>C)
c.74-11520G>C (n.74-11520G>C)
 dbSNP
10g.43100579G>TCA376770286RETc.194G>T (p.Ser65Ile)
c.96G>T
c.74-10628G>T (n.74-10628G>T)
c.74-11520G>T (n.74-11520G>T)
 gnomAD v4
10g.43100580C>ACA376770287RETc.195C>A (p.Ser65Arg)
c.97C>A
c.74-10627C>A (n.74-10627C>A)
c.74-11519C>A (n.74-11519C>A)
 dbSNP
10g.43100580C>GCA376770288RETc.195C>G (p.Ser65Arg)
c.97C>G
c.74-10627C>G (n.74-10627C>G)
c.74-11519C>G (n.74-11519C>G)
 dbSNP
10g.43100580C>TCA469490570RETc.195C>T (p.Ser65=)
c.97C>T
c.74-10627C>T (n.74-10627C>T)
c.74-11519C>T (n.74-11519C>T)
 ClinVar
10g.43100581T>ACA376770289RETc.196T>A (p.Phe66Ile)
c.98T>A
c.74-10626T>A (n.74-10626T>A)
c.74-11518T>A (n.74-11518T>A)
 dbSNP
10g.43100581T>CCA376770290RETc.196T>C (p.Phe66Leu)
c.98T>C
c.74-10626T>C (n.74-10626T>C)
c.74-11518T>C (n.74-11518T>C)
 dbSNP
10g.43100581T>GCA376770291RETc.196T>G (p.Phe66Val)
c.98T>G
c.74-10626T>G (n.74-10626T>G)
c.74-11518T>G (n.74-11518T>G)
10g.43100582T>ACA376770292RETc.197T>A (p.Phe66Tyr)
c.99T>A
c.74-10625T>A (n.74-10625T>A)
c.74-11517T>A (n.74-11517T>A)
 dbSNP
10g.43100582T>CCA376770293RETc.197T>C (p.Phe66Ser)
c.99T>C
c.74-10625T>C (n.74-10625T>C)
c.74-11517T>C (n.74-11517T>C)
 dbSNP
10g.43100582T>GCA376770294RETc.197T>G (p.Phe66Cys)
c.99T>G
c.74-10625T>G (n.74-10625T>G)
c.74-11517T>G (n.74-11517T>G)
10g.43100582_43100584dupCA2695211968RETc.197_199dup (p.Phe66_Arg67insLeu)
c.99_101dup
c.74-10625_74-10623dup (n.74-10625_74-10623dup)
c.74-11517_74-11515dup (n.74-11517_74-11515dup)
10g.43100583C>ACA376770295RETc.198C>A (p.Phe66Leu)
c.100C>A
c.74-10624C>A (n.74-10624C>A)
c.74-11516C>A (n.74-11516C>A)
10g.43100583C>GCA376770296RETc.198C>G (p.Phe66Leu)
c.100C>G
c.74-10624C>G (n.74-10624C>G)
c.74-11516C>G (n.74-11516C>G)
 dbSNP
10g.43100583C>TCA469490576RETc.198C>T (p.Phe66=)
c.100C>T
c.74-10624C>T (n.74-10624C>T)
c.74-11516C>T (n.74-11516C>T)
10g.43100584C>ACA376770297RETc.199C>A (p.Arg67Ser)
c.101C>A
c.74-10623C>A (n.74-10623C>A)
c.74-11515C>A (n.74-11515C>A)
 dbSNP
10g.43100584C=CA1905836812RETc.199C= (p.Arg67=)
c.101C=
c.74-10623C= (n.74-10623C=)
c.74-11515C= (n.74-11515C=)
10g.43100584C>GCA376770298RETc.199C>G (p.Arg67Gly)
c.101C>G
c.74-10623C>G (n.74-10623C>G)
c.74-11515C>G (n.74-11515C>G)
 ClinVar dbSNP
10g.43100584C>TCA036802RETc.199C>T (p.Arg67Cys)
c.101C>T
c.74-10623C>T (n.74-10623C>T)
c.74-11515C>T (n.74-11515C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100585G>ACA008548RETc.200G>A (p.Arg67His)
c.102G>A
c.74-10622G>A (n.74-10622G>A)
c.74-11514G>A (n.74-11514G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.[43100585G>A;43106382G>A;43124887C>T]CA658832921RETc.[200G>A;867+1189G>A;2548C>T] (p.[Arg67His;Arg850Cys])
c.[200G>A;874G>A;2944C>T] (p.[Arg67His;Val292Met;Arg982Cys])
c.[200G>A;625+3753G>A;*1538C>T] ([p.Arg67His;n.625+3753G>A])
c.[74-10622G>A;74-4825G>A;*1538C>T] (n.[74-10622G>A;74-4825G>A;*1538C>T])
c.[200G>A;874G>A;*293C>T] ([p.Arg67His;p.Val292Met;n.*293C>T])
10g.43100585G>CCA376770300RETc.200G>C (p.Arg67Pro)
c.102G>C
c.74-10622G>C (n.74-10622G>C)
c.74-11514G>C (n.74-11514G>C)
10g.43100585G=CA1905836813RETc.200G= (p.Arg67=)
c.102G=
c.74-10622G= (n.74-10622G=)
c.74-11514G= (n.74-11514G=)
10g.43100585G>TCA376770299RETc.200G>T (p.Arg67Leu)
c.102G>T
c.74-10622G>T (n.74-10622G>T)
c.74-11514G>T (n.74-11514G>T)
 dbSNP gnomAD v2 gnomAD v4
10g.43100586C>ACA036938RETc.201C>A (p.Arg67=)
c.103C>A
c.74-10621C>A (n.74-10621C>A)
c.74-11513C>A (n.74-11513C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100586C=CA1905836814RETc.201C= (p.Arg67=)
c.103C=
c.74-10621C= (n.74-10621C=)
c.74-11513C= (n.74-11513C=)
10g.43100586C>GCA469490579RETc.201C>G (p.Arg67=)
c.103C>G
c.74-10621C>G (n.74-10621C>G)
c.74-11513C>G (n.74-11513C>G)
 dbSNP
10g.43100586C>TCA036950RETc.201C>T (p.Arg67=)
c.103C>T
c.74-10621C>T (n.74-10621C>T)
c.74-11513C>T (n.74-11513C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100587C>ACA376770301RETc.202C>A (p.Leu68Met)
c.104C>A
c.74-10620C>A (n.74-10620C>A)
c.74-11512C>A (n.74-11512C>A)
 ClinVar dbSNP
10g.43100587C=CA1905836815RETc.202C= (p.Leu68=)
c.104C=
c.74-10620C= (n.74-10620C=)
c.74-11512C= (n.74-11512C=)
10g.43100587C>GCA376770302RETc.202C>G (p.Leu68Val)
c.104C>G
c.74-10620C>G (n.74-10620C>G)
c.74-11512C>G (n.74-11512C>G)
 dbSNP
10g.43100587C>TCA469490581RETc.202C>T (p.Leu68=)
c.104C>T
c.74-10620C>T (n.74-10620C>T)
c.74-11512C>T (n.74-11512C>T)
 ClinVar dbSNP gnomAD v4
10g.43100588T>ACA376770303RETc.203T>A (p.Leu68Gln)
c.105T>A
c.74-10619T>A (n.74-10619T>A)
c.74-11511T>A (n.74-11511T>A)
 ClinVar
10g.43100588T>CCA376770304RETc.203T>C (p.Leu68Pro)
c.105T>C
c.74-10619T>C (n.74-10619T>C)
c.74-11511T>C (n.74-11511T>C)
10g.43100588T>GCA376770305RETc.203T>G (p.Leu68Arg)
c.105T>G
c.74-10619T>G (n.74-10619T>G)
c.74-11511T>G (n.74-11511T>G)
10g.43100589G>ACA037034RETc.204G>A (p.Leu68=)
c.106G>A
c.74-10618G>A (n.74-10618G>A)
c.74-11510G>A (n.74-11510G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100589G>CCA469490586RETc.204G>C (p.Leu68=)
c.106G>C
c.74-10618G>C (n.74-10618G>C)
c.74-11510G>C (n.74-11510G>C)
 ClinVar dbSNP
10g.43100589G=CA1905836816RETc.204G= (p.Leu68=)
c.106G=
c.74-10618G= (n.74-10618G=)
c.74-11510G= (n.74-11510G=)
10g.43100589G>TCA037054RETc.204G>T (p.Leu68=)
c.106G>T
c.74-10618G>T (n.74-10618G>T)
c.74-11510G>T (n.74-11510G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100591delCA2721859111RETc.206del (p.Gly69AlafsTer?)
c.108del
c.74-10616del (n.74-10616del)
c.74-11508del (n.74-11508del)
 dbSNP
10g.43100590G>ACA376770306RETc.205G>A (p.Gly69Ser)
c.107G>A
c.74-10617G>A (n.74-10617G>A)
c.74-11509G>A (n.74-11509G>A)
 ClinVar dbSNP
10g.43100590G>CCA376770307RETc.205G>C (p.Gly69Arg)
c.107G>C
c.74-10617G>C (n.74-10617G>C)
c.74-11509G>C (n.74-11509G>C)
 dbSNP
10g.43100590G>TCA376770308RETc.205G>T (p.Gly69Cys)
c.107G>T
c.74-10617G>T (n.74-10617G>T)
c.74-11509G>T (n.74-11509G>T)
10g.43100591G>ACA376770309RETc.206G>A (p.Gly69Asp)
c.108G>A
c.74-10616G>A (n.74-10616G>A)
c.74-11508G>A (n.74-11508G>A)
 ClinVar dbSNP COSMIC COSMIC
10g.43100591G>CCA376770310RETc.206G>C (p.Gly69Ala)
c.108G>C
c.74-10616G>C (n.74-10616G>C)
c.74-11508G>C (n.74-11508G>C)
10g.43100591G>TCA376770311RETc.206G>T (p.Gly69Val)
c.108G>T
c.74-10616G>T (n.74-10616G>T)
c.74-11508G>T (n.74-11508G>T)
10g.43100592C>ACA469490595RETc.207C>A (p.Gly69=)
c.109C>A
c.74-10615C>A (n.74-10615C>A)
c.74-11507C>A (n.74-11507C>A)
 dbSNP
10g.43100592C>GCA469490597RETc.207C>G (p.Gly69=)
c.109C>G
c.74-10615C>G (n.74-10615C>G)
c.74-11507C>G (n.74-11507C>G)
10g.43100592C>TCA469490599RETc.207C>T (p.Gly69=)
c.109C>T
c.74-10615C>T (n.74-10615C>T)
c.74-11507C>T (n.74-11507C>T)
10g.43100593C>ACA376770312RETc.208C>A (p.Gln70Lys)
c.110C>A
c.74-10614C>A (n.74-10614C>A)
c.74-11506C>A (n.74-11506C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43100593C=CA1905836817RETc.208C= (p.Gln70=)
c.110C=
c.74-10614C= (n.74-10614C=)
c.74-11506C= (n.74-11506C=)
10g.43100593C>GCA376770314RETc.208C>G (p.Gln70Glu)
c.110C>G
c.74-10614C>G (n.74-10614C>G)
c.74-11506C>G (n.74-11506C>G)
10g.43100593C>TCA376770313RETc.208C>T (p.Gln70Ter)
c.110C>T
c.74-10614C>T (n.74-10614C>T)
c.74-11506C>T (n.74-11506C>T)
 ClinVar
10g.43100594A=CA1905836818RETc.209A= (p.Gln70=)
c.111A=
c.74-10613A= (n.74-10613A=)
c.74-11505A= (n.74-11505A=)
10g.43100594A>CCA376770315RETc.209A>C (p.Gln70Pro)
c.111A>C
c.74-10613A>C (n.74-10613A>C)
c.74-11505A>C (n.74-11505A>C)
10g.43100594A>GCA376770316RETc.209A>G (p.Gln70Arg)
c.111A>G
c.74-10613A>G (n.74-10613A>G)
c.74-11505A>G (n.74-11505A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43100594A>TCA376770317RETc.209A>T (p.Gln70Leu)
c.111A>T
c.74-10613A>T (n.74-10613A>T)
c.74-11505A>T (n.74-11505A>T)
 dbSNP
10g.43100595G>ACA469490605RETc.210G>A (p.Gln70=)
c.112G>A
c.74-10612G>A (n.74-10612G>A)
c.74-11504G>A (n.74-11504G>A)
 dbSNP
10g.43100595G>CCA376770318RETc.210G>C (p.Gln70His)
c.112G>C
c.74-10612G>C (n.74-10612G>C)
c.74-11504G>C (n.74-11504G>C)
 dbSNP
10g.43100595G>TCA376770319RETc.210G>T (p.Gln70His)
c.112G>T
c.74-10612G>T (n.74-10612G>T)
c.74-11504G>T (n.74-11504G>T)
 dbSNP
10g.43100596C>ACA376770320RETc.211C>A (p.His71Asn)
c.113C>A
c.74-10611C>A (n.74-10611C>A)
c.74-11503C>A (n.74-11503C>A)
 dbSNP
10g.43100596C>GCA376770321RETc.211C>G (p.His71Asp)
c.113C>G
c.74-10611C>G (n.74-10611C>G)
c.74-11503C>G (n.74-11503C>G)
 dbSNP
10g.43100596C>TCA376770322RETc.211C>T (p.His71Tyr)
c.113C>T
c.74-10611C>T (n.74-10611C>T)
c.74-11503C>T (n.74-11503C>T)
 dbSNP
10g.43100597A=CA1905836819RETc.212A= (p.His71=)
c.114A=
c.74-10610A= (n.74-10610A=)
c.74-11502A= (n.74-11502A=)
10g.43100597A>CCA376770323RETc.212A>C (p.His71Pro)
c.114A>C
c.74-10610A>C (n.74-10610A>C)
c.74-11502A>C (n.74-11502A>C)
10g.43100597A>GCA376770324RETc.212A>G (p.His71Arg)
c.114A>G
c.74-10610A>G (n.74-10610A>G)
c.74-11502A>G (n.74-11502A>G)
 ClinVar dbSNP
10g.43100597A>TCA376770325RETc.212A>T (p.His71Leu)
c.114A>T
c.74-10610A>T (n.74-10610A>T)
c.74-11502A>T (n.74-11502A>T)
 gnomAD v4
10g.43100598T>ACA376770327RETc.213T>A (p.His71Gln)
c.115T>A
c.74-10609T>A (n.74-10609T>A)
c.74-11501T>A (n.74-11501T>A)
 dbSNP
10g.43100598T>CCA469490613RETc.213T>C (p.His71=)
c.115T>C
c.74-10609T>C (n.74-10609T>C)
c.74-11501T>C (n.74-11501T>C)
10g.43100598T>GCA376770326RETc.213T>G (p.His71Gln)
c.115T>G
c.74-10609T>G (n.74-10609T>G)
c.74-11501T>G (n.74-11501T>G)
10g.43100599C>ACA376770328RETc.214C>A (p.Leu72Ile)
c.116C>A
c.74-10608C>A (n.74-10608C>A)
c.74-11500C>A (n.74-11500C>A)
10g.43100599C>GCA376770329RETc.214C>G (p.Leu72Val)
c.116C>G
c.74-10608C>G (n.74-10608C>G)
c.74-11500C>G (n.74-11500C>G)
10g.43100599C>TCA376770330RETc.214C>T (p.Leu72Phe)
c.116C>T
c.74-10608C>T (n.74-10608C>T)
c.74-11500C>T (n.74-11500C>T)
 ClinVar
10g.43100600T>ACA376770331RETc.215T>A (p.Leu72His)
c.117T>A
c.74-10607T>A (n.74-10607T>A)
c.74-11499T>A (n.74-11499T>A)
 dbSNP
10g.43100600T>CCA376770332RETc.215T>C (p.Leu72Pro)
c.117T>C
c.74-10607T>C (n.74-10607T>C)
c.74-11499T>C (n.74-11499T>C)
 dbSNP
10g.43100600T>GCA376770333RETc.215T>G (p.Leu72Arg)
c.117T>G
c.74-10607T>G (n.74-10607T>G)
c.74-11499T>G (n.74-11499T>G)
10g.43100601C>ACA469490620RETc.216C>A (p.Leu72=)
c.118C>A
c.74-10606C>A (n.74-10606C>A)
c.74-11498C>A (n.74-11498C>A)
 dbSNP
10g.43100601C>GCA469490618RETc.216C>G (p.Leu72=)
c.118C>G
c.74-10606C>G (n.74-10606C>G)
c.74-11498C>G (n.74-11498C>G)
 dbSNP
10g.43100601C>TCA469490619RETc.216C>T (p.Leu72=)
c.118C>T
c.74-10606C>T (n.74-10606C>T)
c.74-11498C>T (n.74-11498C>T)
 dbSNP
10g.43100602T>ACA376770334RETc.217T>A (p.Tyr73Asn)
c.119T>A
c.74-10605T>A (n.74-10605T>A)
c.74-11497T>A (n.74-11497T>A)
 dbSNP
10g.43100602T>CCA376770335RETc.217T>C (p.Tyr73His)
c.119T>C
c.74-10605T>C (n.74-10605T>C)
c.74-11497T>C (n.74-11497T>C)
 dbSNP
10g.43100602T>GCA376770336RETc.217T>G (p.Tyr73Asp)
c.119T>G
c.74-10605T>G (n.74-10605T>G)
c.74-11497T>G (n.74-11497T>G)
10g.43100603A>CCA376770337RETc.218A>C (p.Tyr73Ser)
c.120A>C
c.74-10604A>C (n.74-10604A>C)
c.74-11496A>C (n.74-11496A>C)
 dbSNP
10g.43100603A>GCA376770338RETc.218A>G (p.Tyr73Cys)
c.120A>G
c.74-10604A>G (n.74-10604A>G)
c.74-11496A>G (n.74-11496A>G)
10g.43100603A>TCA376770339RETc.218A>T (p.Tyr73Phe)
c.120A>T
c.74-10604A>T (n.74-10604A>T)
c.74-11496A>T (n.74-11496A>T)
10g.43100604C>ACA376770340RETc.219C>A (p.Tyr73Ter)
c.121C>A
c.74-10603C>A (n.74-10603C>A)
c.74-11495C>A (n.74-11495C>A)
 dbSNP
10g.43100604C=CA1905836820RETc.219C= (p.Tyr73=)
c.121C=
c.74-10603C= (n.74-10603C=)
c.74-11495C= (n.74-11495C=)
10g.43100604C>GCA376770341RETc.219C>G (p.Tyr73Ter)
c.121C>G
c.74-10603C>G (n.74-10603C>G)
c.74-11495C>G (n.74-11495C>G)
 dbSNP
10g.43100604C>TCA037767RETc.219C>T (p.Tyr73=)
c.121C>T
c.74-10603C>T (n.74-10603C>T)
c.74-11495C>T (n.74-11495C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.43100605G>ACA037807RETc.220G>A (p.Gly74Ser)
c.122G>A
c.74-10602G>A (n.74-10602G>A)
c.74-11494G>A (n.74-11494G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100605G>CCA376770342RETc.220G>C (p.Gly74Arg)
c.122G>C
c.74-10602G>C (n.74-10602G>C)
c.74-11494G>C (n.74-11494G>C)
 dbSNP
10g.43100605G=CA1905836821RETc.220G= (p.Gly74=)
c.122G=
c.74-10602G= (n.74-10602G=)
c.74-11494G= (n.74-11494G=)
10g.43100605G>TCA376770343RETc.220G>T (p.Gly74Cys)
c.122G>T
c.74-10602G>T (n.74-10602G>T)
c.74-11494G>T (n.74-11494G>T)
10g.43100606G>ACA376770344RETc.221G>A (p.Gly74Asp)
c.123G>A
c.74-10601G>A (n.74-10601G>A)
c.74-11493G>A (n.74-11493G>A)
 dbSNP
10g.43100606G>CCA376770345RETc.221G>C (p.Gly74Ala)
c.123G>C
c.74-10601G>C (n.74-10601G>C)
c.74-11493G>C (n.74-11493G>C)
 dbSNP
10g.43100606G>TCA376770346RETc.221G>T (p.Gly74Val)
c.123G>T
c.74-10601G>T (n.74-10601G>T)
c.74-11493G>T (n.74-11493G>T)
 dbSNP
10g.43100607C>ACA469490633RETc.222C>A (p.Gly74=)
c.124C>A
c.74-10600C>A (n.74-10600C>A)
c.74-11492C>A (n.74-11492C>A)
10g.43100607C>GCA469490634RETc.222C>G (p.Gly74=)
c.124C>G
c.74-10600C>G (n.74-10600C>G)
c.74-11492C>G (n.74-11492C>G)
 dbSNP
10g.43100607C>TCA469490635RETc.222C>T (p.Gly74=)
c.124C>T
c.74-10600C>T (n.74-10600C>T)
c.74-11492C>T (n.74-11492C>T)
 dbSNP
10g.43100608A=CA1905836822RETc.223A= (p.Thr75=)
c.125A=
c.74-10599A= (n.74-10599A=)
c.74-11491A= (n.74-11491A=)
10g.43100608A>CCA376770347RETc.223A>C (p.Thr75Pro)
c.125A>C
c.74-10599A>C (n.74-10599A>C)
c.74-11491A>C (n.74-11491A>C)
 dbSNP
10g.43100608A>GCA376770349RETc.223A>G (p.Thr75Ala)
c.125A>G
c.74-10599A>G (n.74-10599A>G)
c.74-11491A>G (n.74-11491A>G)
 dbSNP
10g.43100608A>TCA376770348RETc.223A>T (p.Thr75Ser)
c.125A>T
c.74-10599A>T (n.74-10599A>T)
c.74-11491A>T (n.74-11491A>T)
 dbSNP
10g.43100609C>ACA376770350RETc.224C>A (p.Thr75Lys)
c.126C>A
c.74-10598C>A (n.74-10598C>A)
c.74-11490C>A (n.74-11490C>A)
 dbSNP
10g.43100609C=CA1905836823RETc.224C= (p.Thr75=)
c.126C=
c.74-10598C= (n.74-10598C=)
c.74-11490C= (n.74-11490C=)
10g.43100609C>GCA376770351RETc.224C>G (p.Thr75Arg)
c.126C>G
c.74-10598C>G (n.74-10598C>G)
c.74-11490C>G (n.74-11490C>G)
 dbSNP
10g.43100609C>TCA038004RETc.224C>T (p.Thr75Met)
c.126C>T
c.74-10598C>T (n.74-10598C>T)
c.74-11490C>T (n.74-11490C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100610G>ACA008616RETc.225G>A (p.Thr75=)
c.127G>A
c.74-10597G>A (n.74-10597G>A)
c.74-11489G>A (n.74-11489G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100610G>CCA469490642RETc.225G>C (p.Thr75=)
c.127G>C
c.74-10597G>C (n.74-10597G>C)
c.74-11489G>C (n.74-11489G>C)
 dbSNP
10g.43100610G=CA1905836824RETc.225G= (p.Thr75=)
c.127G=
c.74-10597G= (n.74-10597G=)
c.74-11489G= (n.74-11489G=)
10g.43100610G>TCA469490641RETc.225G>T (p.Thr75=)
c.127G>T
c.74-10597G>T (n.74-10597G>T)
c.74-11489G>T (n.74-11489G>T)
 ClinVar dbSNP
10g.43100611T>ACA376770354RETc.226T>A (p.Tyr76Asn)
c.128T>A
c.74-10596T>A (n.74-10596T>A)
c.74-11488T>A (n.74-11488T>A)
10g.43100611T>CCA376770353RETc.226T>C (p.Tyr76His)
c.128T>C
c.74-10596T>C (n.74-10596T>C)
c.74-11488T>C (n.74-11488T>C)
10g.43100611T>GCA376770352RETc.226T>G (p.Tyr76Asp)
c.128T>G
c.74-10596T>G (n.74-10596T>G)
c.74-11488T>G (n.74-11488T>G)
 gnomAD v4
10g.43100612A>CCA376770355RETc.227A>C (p.Tyr76Ser)
c.129A>C
c.74-10595A>C (n.74-10595A>C)
c.74-11487A>C (n.74-11487A>C)
 dbSNP
10g.43100612A>GCA376770357RETc.227A>G (p.Tyr76Cys)
c.129A>G
c.74-10595A>G (n.74-10595A>G)
c.74-11487A>G (n.74-11487A>G)
10g.43100612A>TCA376770356RETc.227A>T (p.Tyr76Phe)
c.129A>T
c.74-10595A>T (n.74-10595A>T)
c.74-11487A>T (n.74-11487A>T)
 dbSNP

Number of alleles fetched