Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154903964A=CA2466828152F8c.5940T= (p.His1980=)
c.5835T= (p.His1945=)
Xg.154903964A>CCA414905807F8c.5940T>G (p.His1980Gln)
c.5835T>G (p.His1945Gln)
Xg.154903964A>GCA519356192F8c.5940T>C (p.His1980=)
c.5835T>C (p.His1945=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154903964A>TCA414905814F8c.5940T>A (p.His1980Gln)
c.5835T>A (p.His1945Gln)
Xg.154903964_154903965delCA2580101792F8c.5939_5940del (p.His1980ArgfsTer11)
c.5834_5835del (p.His1945ArgfsTer11)
 ClinVar
Xg.154903965T>ACA414905817F8c.5939A>T (p.His1980Leu)
c.5834A>T (p.His1945Leu)
Xg.154903965T>CCA414905820F8c.5939A>G (p.His1980Arg)
c.5834A>G (p.His1945Arg)
 ClinVar dbSNP
Xg.154903965T>GCA414905823F8c.5939A>C (p.His1980Pro)
c.5834A>C (p.His1945Pro)
Xg.154903965T=CA2466828153F8c.5939A= (p.His1980=)
c.5834A= (p.His1945=)
Xg.154903966G>ACA255190F8c.5938C>T (p.His1980Tyr)
c.5833C>T (p.His1945Tyr)
 ClinVar dbSNP
Xg.154903966G>CCA414905825F8c.5938C>G (p.His1980Asp)
c.5833C>G (p.His1945Asp)
 dbSNP
Xg.154903966G=CA2466828154F8c.5938C= (p.His1980=)
c.5833C= (p.His1945=)
Xg.154903966G>TCA414905829F8c.5938C>A (p.His1980Asn)
c.5833C>A (p.His1945Asn)
Xg.154903967T>ACA519356196F8c.5937A>T (p.Gly1979=)
c.5832A>T (p.Gly1944=)
Xg.154903967T>CCA519356197F8c.5937A>G (p.Gly1979=)
c.5832A>G (p.Gly1944=)
Xg.154903967T>GCA519356199F8c.5937A>C (p.Gly1979=)
c.5832A>C (p.Gly1944=)
Xg.154903968C>ACA255189F8c.5936G>T (p.Gly1979Val)
c.5831G>T (p.Gly1944Val)
 ClinVar dbSNP
Xg.154903968C=CA2466828155F8c.5936G= (p.Gly1979=)
c.5831G= (p.Gly1944=)
Xg.154903968C>GCA414905838F8c.5936G>C (p.Gly1979Ala)
c.5831G>C (p.Gly1944Ala)
Xg.154903968C>TCA414905839F8c.5936G>A (p.Gly1979Glu)
c.5831G>A (p.Gly1944Glu)
Xg.154903969delCA2695237949F8c.5936del (p.Gly1979AspfsTer?)
c.5831del (p.Gly1944AspfsTer?)
Xg.154903969C>ACA414905855F8c.5935G>T (p.Gly1979Ter)
c.5830G>T (p.Gly1944Ter)
Xg.154903969C>GCA414905860F8c.5935G>C (p.Gly1979Arg)
c.5830G>C (p.Gly1944Arg)
Xg.154903969C>TCA414905863F8c.5935G>A (p.Gly1979Arg)
c.5830G>A (p.Gly1944Arg)
Xg.154903970A=CA2466828156F8c.5934T= (p.Ser1978=)
c.5829T= (p.Ser1943=)
Xg.154903970A>CCA414905865F8c.5934T>G (p.Ser1978Arg)
c.5829T>G (p.Ser1943Arg)
Xg.154903970A>GCA519356203F8c.5934T>C (p.Ser1978=)
c.5829T>C (p.Ser1943=)
 dbSNP gnomAD v3 gnomAD v4
Xg.154903970A>TCA414905867F8c.5934T>A (p.Ser1978Arg)
c.5829T>A (p.Ser1943Arg)
Xg.154903971C>ACA414905869F8c.5933G>T (p.Ser1978Ile)
c.5828G>T (p.Ser1943Ile)
Xg.154903971C=CA2466828157F8c.5933G= (p.Ser1978=)
c.5828G= (p.Ser1943=)
Xg.154903971C>GCA414905871F8c.5933G>C (p.Ser1978Thr)
c.5828G>C (p.Ser1943Thr)
 dbSNP gnomAD v4
Xg.154903971C>TCA414905875F8c.5933G>A (p.Ser1978Asn)
c.5828G>A (p.Ser1943Asn)
Xg.154903972T>ACA414905882F8c.5932A>T (p.Ser1978Cys)
c.5827A>T (p.Ser1943Cys)
Xg.154903972T>CCA414905880F8c.5932A>G (p.Ser1978Gly)
c.5827A>G (p.Ser1943Gly)
Xg.154903972T>GCA414905877F8c.5932A>C (p.Ser1978Arg)
c.5827A>C (p.Ser1943Arg)
Xg.154903973G>ACA519356205F8c.5931C>T (p.Phe1977=)
c.5826C>T (p.Phe1942=)
Xg.154903973G>CCA414905887F8c.5931C>G (p.Phe1977Leu)
c.5826C>G (p.Phe1942Leu)
Xg.154903973G>TCA414905891F8c.5931C>A (p.Phe1977Leu)
c.5826C>A (p.Phe1942Leu)
Xg.154903974A>CCA414905895F8c.5930T>G (p.Phe1977Cys)
c.5825T>G (p.Phe1942Cys)
Xg.154903974A>GCA414905900F8c.5930T>C (p.Phe1977Ser)
c.5825T>C (p.Phe1942Ser)
Xg.154903974A>TCA414905897F8c.5930T>A (p.Phe1977Tyr)
c.5825T>A (p.Phe1942Tyr)
Xg.154903976delCA2695237951F8c.5930del (p.Phe1977SerfsTer?)
c.5825del (p.Phe1942SerfsTer?)
Xg.154903975A>CCA414905903F8c.5929T>G (p.Phe1977Val)
c.5824T>G (p.Phe1942Val)
Xg.154903975A>GCA414905912F8c.5929T>C (p.Phe1977Leu)
c.5824T>C (p.Phe1942Leu)
Xg.154903975A>TCA414905916F8c.5929T>A (p.Phe1977Ile)
c.5824T>A (p.Phe1942Ile)
Xg.154903976A>CCA414905919F8c.5928T>G (p.His1976Gln)
c.5823T>G (p.His1941Gln)
Xg.154903976A>GCA519356209F8c.5928T>C (p.His1976=)
c.5823T>C (p.His1941=)
Xg.154903976A>TCA414905924F8c.5928T>A (p.His1976Gln)
c.5823T>A (p.His1941Gln)
Xg.154903977T>ACA414905927F8c.5927A>T (p.His1976Leu)
c.5822A>T (p.His1941Leu)
 gnomAD v4
Xg.154903977T>CCA414905930F8c.5927A>G (p.His1976Arg)
c.5822A>G (p.His1941Arg)
Xg.154903977T>GCA414905933F8c.5927A>C (p.His1976Pro)
c.5822A>C (p.His1941Pro)
Xg.154903978G>ACA414905938F8c.5926C>T (p.His1976Tyr)
c.5821C>T (p.His1941Tyr)
Xg.154903978G>CCA414905941F8c.5926C>G (p.His1976Asp)
c.5821C>G (p.His1941Asp)
Xg.154903978G>TCA414905947F8c.5926C>A (p.His1976Asn)
c.5821C>A (p.His1941Asn)
Xg.154903979A>CCA414905951F8c.5925T>G (p.Ile1975Met)
c.5820T>G (p.Ile1940Met)
Xg.154903979A>GCA519356213F8c.5925T>C (p.Ile1975=)
c.5820T>C (p.Ile1940=)
Xg.154903979A>TCA519356214F8c.5925T>A (p.Ile1975=)
c.5820T>A (p.Ile1940=)
Xg.154903980A=CA2466828158F8c.5924T= (p.Ile1975=)
c.5819T= (p.Ile1940=)
Xg.154903980A>CCA414905958F8c.5924T>G (p.Ile1975Ser)
c.5819T>G (p.Ile1940Ser)
Xg.154903980A>GCA414905953F8c.5924T>C (p.Ile1975Thr)
c.5819T>C (p.Ile1940Thr)
 dbSNP gnomAD v4
Xg.154903980A>TCA414905955F8c.5924T>A (p.Ile1975Asn)
c.5819T>A (p.Ile1940Asn)
Xg.154903981T>ACA414905961F8c.5923A>T (p.Ile1975Phe)
c.5818A>T (p.Ile1940Phe)
 dbSNP
Xg.154903981T>CCA414905962F8c.5923A>G (p.Ile1975Val)
c.5818A>G (p.Ile1940Val)
 dbSNP gnomAD v4
Xg.154903981T>GCA414905963F8c.5923A>C (p.Ile1975Leu)
c.5818A>C (p.Ile1940Leu)
Xg.154903981T=CA2466828159F8c.5923A= (p.Ile1975=)
c.5818A= (p.Ile1940=)
Xg.154903982A>CCA519356219F8c.5922T>G (p.Ser1974=)
c.5817T>G (p.Ser1939=)
Xg.154903982A>GCA519356224F8c.5922T>C (p.Ser1974=)
c.5817T>C (p.Ser1939=)
Xg.154903982A>TCA519356225F8c.5922T>A (p.Ser1974=)
c.5817T>A (p.Ser1939=)
Xg.154903983G>ACA414905964F8c.5921C>T (p.Ser1974Phe)
c.5816C>T (p.Ser1939Phe)
 COSMIC COSMIC
Xg.154903983G>CCA414905966F8c.5921C>G (p.Ser1974Cys)
c.5816C>G (p.Ser1939Cys)
Xg.154903983G>TCA414905968F8c.5921C>A (p.Ser1974Tyr)
c.5816C>A (p.Ser1939Tyr)
Xg.154903984A>CCA414905972F8c.5920T>G (p.Ser1974Ala)
c.5815T>G (p.Ser1939Ala)
Xg.154903984A>GCA414905974F8c.5920T>C (p.Ser1974Pro)
c.5815T>C (p.Ser1939Pro)
Xg.154903984A>TCA414905976F8c.5920T>A (p.Ser1974Thr)
c.5815T>A (p.Ser1939Thr)
Xg.154903985A>CCA414905979F8c.5919T>G (p.His1973Gln)
c.5814T>G (p.His1938Gln)
Xg.154903985A>GCA519356229F8c.5919T>C (p.His1973=)
c.5814T>C (p.His1938=)
Xg.154903985A>TCA414905981F8c.5919T>A (p.His1973Gln)
c.5814T>A (p.His1938Gln)
Xg.154903986T>ACA414905984F8c.5918A>T (p.His1973Leu)
c.5813A>T (p.His1938Leu)
 ClinVar dbSNP gnomAD v4
Xg.154903986T>CCA414905988F8c.5918A>G (p.His1973Arg)
c.5813A>G (p.His1938Arg)
 dbSNP
Xg.154903986T>GCA414905985F8c.5918A>C (p.His1973Pro)
c.5813A>C (p.His1938Pro)
Xg.154903986T=CA2466828160F8c.5918A= (p.His1973=)
c.5813A= (p.His1938=)
Xg.154903987G>ACA414905989F8c.5917C>T (p.His1973Tyr)
c.5812C>T (p.His1938Tyr)
Xg.154903987G>CCA414905990F8c.5917C>G (p.His1973Asp)
c.5812C>G (p.His1938Asp)
Xg.154903987G>TCA414905991F8c.5917C>A (p.His1973Asn)
c.5812C>A (p.His1938Asn)
Xg.154903988G>ACA519356233F8c.5916C>T (p.Ile1972=)
c.5811C>T (p.Ile1937=)
 COSMIC COSMIC
Xg.154903988G>CCA414905993F8c.5916C>G (p.Ile1972Met)
c.5811C>G (p.Ile1937Met)
 dbSNP
Xg.154903988G>TCA519356236F8c.5916C>A (p.Ile1972=)
c.5811C>A (p.Ile1937=)
Xg.154903988_154903990delinsGATCA2466828161F8c.5914_5916delinsATC (p.Ile1972=)
c.5809_5811delinsATC (p.Ile1937=)
Xg.154903989A=CA2466828162F8c.5915T= (p.Ile1972=)
c.5810T= (p.Ile1937=)
Xg.154903989A>CCA414905995F8c.5915T>G (p.Ile1972Ser)
c.5810T>G (p.Ile1937Ser)
Xg.154903989A>GCA414905996F8c.5915T>C (p.Ile1972Thr)
c.5810T>C (p.Ile1937Thr)
 dbSNP
Xg.154903989A>TCA414905998F8c.5915T>A (p.Ile1972Asn)
c.5810T>A (p.Ile1937Asn)
Xg.154903989_154903990delCA873340712F8c.5914_5915del (p.Ile1972ProfsTer19)
c.5809_5810del (p.Ile1937ProfsTer19)
 ClinVar dbSNP
Xg.154903990delCA2695237957F8c.5914del (p.Ile1972SerfsTer?)
c.5809del (p.Ile1937SerfsTer?)
Xg.154903990T>ACA414906012F8c.5914A>T (p.Ile1972Phe)
c.5809A>T (p.Ile1937Phe)
Xg.154903990T>CCA414906015F8c.5914A>G (p.Ile1972Val)
c.5809A>G (p.Ile1937Val)
Xg.154903990T>GCA414906017F8c.5914A>C (p.Ile1972Leu)
c.5809A>C (p.Ile1937Leu)
Xg.154903991G>ACA519356239F8c.5913C>T (p.Asn1971=)
c.5808C>T (p.Asn1936=)
Xg.154903991G>CCA414906027F8c.5913C>G (p.Asn1971Lys)
c.5808C>G (p.Asn1936Lys)
Xg.154903991G>TCA414906024F8c.5913C>A (p.Asn1971Lys)
c.5808C>A (p.Asn1936Lys)
Xg.154903992T>ACA414906029F8c.5912A>T (p.Asn1971Ile)
c.5807A>T (p.Asn1936Ile)
Xg.154903992T>CCA414906031F8c.5912A>G (p.Asn1971Ser)
c.5807A>G (p.Asn1936Ser)
Xg.154903992T>GCA414906034F8c.5912A>C (p.Asn1971Thr)
c.5807A>C (p.Asn1936Thr)
Xg.154903993T>ACA414906037F8c.5911A>T (p.Asn1971Tyr)
c.5806A>T (p.Asn1936Tyr)
Xg.154903993T>CCA414906038F8c.5911A>G (p.Asn1971Asp)
c.5806A>G (p.Asn1936Asp)
Xg.154903993T>GCA414906039F8c.5911A>C (p.Asn1971His)
c.5806A>C (p.Asn1936His)
 dbSNP
Xg.154903993T=CA2466828163F8c.5911A= (p.Asn1971=)
c.5806A= (p.Asn1936=)
Xg.154903994T>ACA414906040F8c.5910A>T (p.Glu1970Asp)
c.5805A>T (p.Glu1935Asp)
Xg.154903994T>CCA519356243F8c.5910A>G (p.Glu1970=)
c.5805A>G (p.Glu1935=)
Xg.154903994T>GCA414906041F8c.5910A>C (p.Glu1970Asp)
c.5805A>C (p.Glu1935Asp)
Xg.154903995T>ACA414906043F8c.5909A>T (p.Glu1970Val)
c.5804A>T (p.Glu1935Val)
Xg.154903995T>CCA414906044F8c.5909A>G (p.Glu1970Gly)
c.5804A>G (p.Glu1935Gly)
Xg.154903995T>GCA414906047F8c.5909A>C (p.Glu1970Ala)
c.5804A>C (p.Glu1935Ala)
Xg.154903996C>ACA414906049F8c.5908G>T (p.Glu1970Ter)
c.5803G>T (p.Glu1935Ter)
Xg.154903996C>GCA414906050F8c.5908G>C (p.Glu1970Gln)
c.5803G>C (p.Glu1935Gln)
Xg.154903996C>TCA414906048F8c.5908G>A (p.Glu1970Lys)
c.5803G>A (p.Glu1935Lys)
Xg.154903997A>CCA414906054F8c.5907T>G (p.Asn1969Lys)
c.5802T>G (p.Asn1934Lys)
Xg.154903997A>GCA519356246F8c.5907T>C (p.Asn1969=)
c.5802T>C (p.Asn1934=)
Xg.154903997A>TCA414906051F8c.5907T>A (p.Asn1969Lys)
c.5802T>A (p.Asn1934Lys)
Xg.154903998T>ACA414906056F8c.5906A>T (p.Asn1969Ile)
c.5801A>T (p.Asn1934Ile)
Xg.154903998T>CCA414906058F8c.5906A>G (p.Asn1969Ser)
c.5801A>G (p.Asn1934Ser)
 gnomAD v4
Xg.154903998T>GCA414906062F8c.5906A>C (p.Asn1969Thr)
c.5801A>C (p.Asn1934Thr)
Xg.154903999T>ACA414906063F8c.5905A>T (p.Asn1969Tyr)
c.5800A>T (p.Asn1934Tyr)
Xg.154903999T>CCA414906064F8c.5905A>G (p.Asn1969Asp)
c.5800A>G (p.Asn1934Asp)
Xg.154903999T>GCA414906065F8c.5905A>C (p.Asn1969His)
c.5800A>C (p.Asn1934His)
Xg.154904000G>ACA519356250F8c.5904C>T (p.Ser1968=)
c.5799C>T (p.Ser1933=)
Xg.154904000G>CCA414906067F8c.5904C>G (p.Ser1968Arg)
c.5799C>G (p.Ser1933Arg)
Xg.154904000G>TCA414906071F8c.5904C>A (p.Ser1968Arg)
c.5799C>A (p.Ser1933Arg)
 gnomAD v4
Xg.154904001C>ACA414906073F8c.5903G>T (p.Ser1968Ile)
c.5798G>T (p.Ser1933Ile)
Xg.154904001C=CA2466828164F8c.5903G= (p.Ser1968=)
c.5798G= (p.Ser1933=)
Xg.154904001C>GCA414906078F8c.5903G>C (p.Ser1968Thr)
c.5798G>C (p.Ser1933Thr)
Xg.154904001C>TCA337318263F8c.5903G>A (p.Ser1968Asn)
c.5798G>A (p.Ser1933Asn)
 ClinVar dbSNP COSMIC COSMIC
Xg.154904002T>ACA414906093F8c.5902A>T (p.Ser1968Cys)
c.5797A>T (p.Ser1933Cys)
Xg.154904002T>CCA414906101F8c.5902A>G (p.Ser1968Gly)
c.5797A>G (p.Ser1933Gly)
Xg.154904002T>GCA414906098F8c.5902A>C (p.Ser1968Arg)
c.5797A>C (p.Ser1933Arg)
Xg.154904003G>ACA519356253F8c.5901C>T (p.Gly1967=)
c.5796C>T (p.Gly1932=)
 gnomAD v4
Xg.154904003G>CCA519356255F8c.5901C>G (p.Gly1967=)
c.5796C>G (p.Gly1932=)
Xg.154904003G>TCA519356256F8c.5901C>A (p.Gly1967=)
c.5796C>A (p.Gly1932=)
Xg.154904004C>ACA414906106F8c.5900G>T (p.Gly1967Val)
c.5795G>T (p.Gly1932Val)
Xg.154904004C=CA2466828165F8c.5900G= (p.Gly1967=)
c.5795G= (p.Gly1932=)
Xg.154904004C>GCA414906108F8c.5900G>C (p.Gly1967Ala)
c.5795G>C (p.Gly1932Ala)
Xg.154904004C>TCA255188F8c.5900G>A (p.Gly1967Asp)
c.5795G>A (p.Gly1932Asp)
 ClinVar dbSNP
Xg.154904005C>ACA414906111F8c.5899G>T (p.Gly1967Cys)
c.5794G>T (p.Gly1932Cys)
Xg.154904005C>GCA414906113F8c.5899G>C (p.Gly1967Arg)
c.5794G>C (p.Gly1932Arg)
Xg.154904005C>TCA414906115F8c.5899G>A (p.Gly1967Ser)
c.5794G>A (p.Gly1932Ser)
Xg.154904006C>ACA414906123F8c.5898G>T (p.Met1966Ile)
c.5793G>T (p.Met1931Ile)
Xg.154904006C>GCA414906126F8c.5898G>C (p.Met1966Ile)
c.5793G>C (p.Met1931Ile)
Xg.154904006C>TCA414906131F8c.5898G>A (p.Met1966Ile)
c.5793G>A (p.Met1931Ile)
Xg.154904007A>CCA414906135F8c.5897T>G (p.Met1966Arg)
c.5792T>G (p.Met1931Arg)
Xg.154904007A>GCA414906137F8c.5897T>C (p.Met1966Thr)
c.5792T>C (p.Met1931Thr)
 gnomAD v4
Xg.154904007A>TCA414906132F8c.5897T>A (p.Met1966Lys)
c.5792T>A (p.Met1931Lys)
Xg.154904008T>ACA414906143F8c.5896A>T (p.Met1966Leu)
c.5791A>T (p.Met1931Leu)
 gnomAD v4
Xg.154904008T>CCA414906149F8c.5896A>G (p.Met1966Val)
c.5791A>G (p.Met1931Val)
 dbSNP
Xg.154904008T>GCA414906151F8c.5896A>C (p.Met1966Leu)
c.5791A>C (p.Met1931Leu)
 ClinVar dbSNP
Xg.154904008T=CA2466828166F8c.5896A= (p.Met1966=)
c.5791A= (p.Met1931=)
Xg.154904009G>ACA519356259F8c.5895C>T (p.Ser1965=)
c.5790C>T (p.Ser1930=)
Xg.154904009G>CCA414906154F8c.5895C>G (p.Ser1965Arg)
c.5790C>G (p.Ser1930Arg)
Xg.154904009G>TCA414906156F8c.5895C>A (p.Ser1965Arg)
c.5790C>A (p.Ser1930Arg)
 dbSNP
Xg.154904010C>ACA414906159F8c.5894G>T (p.Ser1965Ile)
c.5789G>T (p.Ser1930Ile)
 dbSNP
Xg.154904010C=CA2466828167F8c.5894G= (p.Ser1965=)
c.5789G= (p.Ser1930=)
Xg.154904010C>GCA414906162F8c.5894G>C (p.Ser1965Thr)
c.5789G>C (p.Ser1930Thr)
Xg.154904010C>TCA414906165F8c.5894G>A (p.Ser1965Asn)
c.5789G>A (p.Ser1930Asn)
Xg.154904011T>ACA414906168F8c.5893A>T (p.Ser1965Cys)
c.5788A>T (p.Ser1930Cys)
Xg.154904011T>CCA414906178F8c.5893A>G (p.Ser1965Gly)
c.5788A>G (p.Ser1930Gly)
Xg.154904011T>GCA414906179F8c.5893A>C (p.Ser1965Arg)
c.5788A>C (p.Ser1930Arg)
Xg.154904012G>ACA519356261F8c.5892C>T (p.Leu1964=)
c.5787C>T (p.Leu1929=)
 gnomAD v4
Xg.154904012G>CCA519356263F8c.5892C>G (p.Leu1964=)
c.5787C>G (p.Leu1929=)
Xg.154904012G>TCA519356264F8c.5892C>A (p.Leu1964=)
c.5787C>A (p.Leu1929=)
Xg.154904013A=CA2466828168F8c.5891T= (p.Leu1964=)
c.5786T= (p.Leu1929=)
Xg.154904013A>CCA414906182F8c.5891T>G (p.Leu1964Arg)
c.5786T>G (p.Leu1929Arg)
Xg.154904013A>GCA414906184F8c.5891T>C (p.Leu1964Pro)
c.5786T>C (p.Leu1929Pro)
 dbSNP
Xg.154904013A>TCA414906180F8c.5891T>A (p.Leu1964His)
c.5786T>A (p.Leu1929His)
Xg.154904014G>ACA414906186F8c.5890C>T (p.Leu1964Phe)
c.5785C>T (p.Leu1929Phe)
Xg.154904014G>CCA414906189F8c.5890C>G (p.Leu1964Val)
c.5785C>G (p.Leu1929Val)
 gnomAD v4
Xg.154904014G>TCA414906191F8c.5890C>A (p.Leu1964Ile)
c.5785C>A (p.Leu1929Ile)
Xg.154904015C>ACA519717768F8c.5889G>T (p.Leu1963=)
c.5784G>T (p.Leu1928=)
Xg.154904015C>GCA519717776F8c.5889G>C (p.Leu1963=)
c.5784G>C (p.Leu1928=)
Xg.154904015C>TCA519717772F8c.5889G>A (p.Leu1963=)
c.5784G>A (p.Leu1928=)
Xg.154904016A>CCA414906195F8c.5888T>G (p.Leu1963Arg)
c.5783T>G (p.Leu1928Arg)
Xg.154904016A>GCA414906201F8c.5888T>C (p.Leu1963Pro)
c.5783T>C (p.Leu1928Pro)
Xg.154904016A>TCA414906208F8c.5888T>A (p.Leu1963Gln)
c.5783T>A (p.Leu1928Gln)
Xg.154904017G>ACA519717785F8c.5887C>T (p.Leu1963=)
c.5782C>T (p.Leu1928=)
Xg.154904017G>CCA414906210F8c.5887C>G (p.Leu1963Val)
c.5782C>G (p.Leu1928Val)
Xg.154904017G>TCA414906212F8c.5887C>A (p.Leu1963Met)
c.5782C>A (p.Leu1928Met)
Xg.154904018A=CA2466828169F8c.5886T= (p.Tyr1962=)
c.5781T= (p.Tyr1927=)
Xg.154904018A>CCA414906215F8c.5886T>G (p.Tyr1962Ter)
c.5781T>G (p.Tyr1927Ter)
Xg.154904018A>GCA519717793F8c.5886T>C (p.Tyr1962=)
c.5781T>C (p.Tyr1927=)
Xg.154904018A>TCA414906216F8c.5886T>A (p.Tyr1962Ter)
c.5781T>A (p.Tyr1927Ter)
 dbSNP
Xg.154904019T>ACA414906217F8c.5885A>T (p.Tyr1962Phe)
c.5780A>T (p.Tyr1927Phe)
Xg.154904019T>CCA414906218F8c.5885A>G (p.Tyr1962Cys)
c.5780A>G (p.Tyr1927Cys)
 dbSNP
Xg.154904019T>GCA414906219F8c.5885A>C (p.Tyr1962Ser)
c.5780A>C (p.Tyr1927Ser)
Xg.154904019T=CA2466828170F8c.5885A= (p.Tyr1962=)
c.5780A= (p.Tyr1927=)
Xg.154904020A>CCA414906230F8c.5884T>G (p.Tyr1962Asp)
c.5779T>G (p.Tyr1927Asp)
Xg.154904020A>GCA414906228F8c.5884T>C (p.Tyr1962His)
c.5779T>C (p.Tyr1927His)
Xg.154904020A>TCA414906226F8c.5884T>A (p.Tyr1962Asn)
c.5779T>A (p.Tyr1927Asn)
Xg.154904020_154904021delCA2695237965F8c.5883_5884del (p.Trp1961Ter)
c.5778_5779del (p.Trp1926Ter)
Xg.154904021C>ACA414906235F8c.5883G>T (p.Trp1961Cys)
c.5778G>T (p.Trp1926Cys)
 gnomAD v4
Xg.154904021C=CA2466828171F8c.5883G= (p.Trp1961=)
c.5778G= (p.Trp1926=)
Xg.154904021C>GCA414906239F8c.5883G>C (p.Trp1961Cys)
c.5778G>C (p.Trp1926Cys)
Xg.154904021C>TCA414906237F8c.5883G>A (p.Trp1961Ter)
c.5778G>A (p.Trp1926Ter)
 ClinVar dbSNP
Xg.154904022C>ACA414906241F8c.5882G>T (p.Trp1961Leu)
c.5777G>T (p.Trp1926Leu)
Xg.154904022C=CA2466828172F8c.5882G= (p.Trp1961=)
c.5777G= (p.Trp1926=)
Xg.154904022C>GCA414906243F8c.5882G>C (p.Trp1961Ser)
c.5777G>C (p.Trp1926Ser)
Xg.154904022C>TCA255186F8c.5882G>A (p.Trp1961Ter)
c.5777G>A (p.Trp1926Ter)
 ClinVar dbSNP
Xg.154904023A=CA2466828173F8c.5881T= (p.Trp1961=)
c.5776T= (p.Trp1926=)
Xg.154904023A>CCA414906248F8c.5881T>G (p.Trp1961Gly)
c.5776T>G (p.Trp1926Gly)
Xg.154904023A>GCA414906253F8c.5881T>C (p.Trp1961Arg)
c.5776T>C (p.Trp1926Arg)
 ClinVar dbSNP
Xg.154904023A>TCA414906256F8c.5881T>A (p.Trp1961Arg)
c.5776T>A (p.Trp1926Arg)
 dbSNP
Xg.154904024T>ACA519717827F8c.5880A>T (p.Arg1960=)
c.5775A>T (p.Arg1925=)
Xg.154904024T>CCA10567926F8c.5880A>G (p.Arg1960=)
c.5775A>G (p.Arg1925=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154904024T>GCA519717831F8c.5880A>C (p.Arg1960=)
c.5775A>C (p.Arg1925=)
Xg.154904024T=CA2466828174F8c.5880A= (p.Arg1960=)
c.5775A= (p.Arg1925=)
Xg.154904025C>ACA255185F8c.5879G>T (p.Arg1960Leu)
c.5774G>T (p.Arg1925Leu)
 ClinVar dbSNP
Xg.154904025C=CA2466828175F8c.5879G= (p.Arg1960=)
c.5774G= (p.Arg1925=)
Xg.154904025C>GCA414906263F8c.5879G>C (p.Arg1960Pro)
c.5774G>C (p.Arg1925Pro)
Xg.154904025C>TCA255019F8c.5879G>A (p.Arg1960Gln)
c.5774G>A (p.Arg1925Gln)
 ClinVar dbSNP
Xg.154904026G>ACA255024F8c.5878C>T (p.Arg1960Ter)
c.5773C>T (p.Arg1925Ter)
 ClinVar dbSNP
Xg.154904026G>CCA414906276F8c.5878C>G (p.Arg1960Gly)
c.5773C>G (p.Arg1925Gly)
Xg.154904026G=CA2466828176F8c.5878C= (p.Arg1960=)
c.5773C= (p.Arg1925=)
Xg.154904026G>TCA10567927F8c.5878C>A (p.Arg1960=)
c.5773C>A (p.Arg1925=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154904027A>CCA414906279F8c.5877T>G (p.Ile1959Met)
c.5772T>G (p.Ile1924Met)
Xg.154904027A>GCA519717843F8c.5877T>C (p.Ile1959=)
c.5772T>C (p.Ile1924=)
Xg.154904027A>TCA519717844F8c.5877T>A (p.Ile1959=)
c.5772T>A (p.Ile1924=)
Xg.154904028A>CCA414906282F8c.5876T>G (p.Ile1959Ser)
c.5771T>G (p.Ile1924Ser)
Xg.154904028A>GCA414906285F8c.5876T>C (p.Ile1959Thr)
c.5771T>C (p.Ile1924Thr)
Xg.154904028A>TCA414906291F8c.5876T>A (p.Ile1959Asn)
c.5771T>A (p.Ile1924Asn)
Xg.154904029T>ACA414906294F8c.5875A>T (p.Ile1959Phe)
c.5770A>T (p.Ile1924Phe)
 ClinVar dbSNP
Xg.154904029T>CCA414906296F8c.5875A>G (p.Ile1959Val)
c.5770A>G (p.Ile1924Val)
Xg.154904029T>GCA414906304F8c.5875A>C (p.Ile1959Leu)
c.5770A>C (p.Ile1924Leu)
Xg.154904029T=CA2466828177F8c.5875A= (p.Ile1959=)
c.5770A= (p.Ile1924=)
Xg.154904029_154904030delinsTCCA2466828178F8c.5874_5875delinsGA (p.Arg1958=)
c.5769_5770delinsGA (p.Arg1923=)
Xg.154904030C>ACA414906306F8c.5874G>T (p.Arg1958Ser)
c.5769G>T (p.Arg1923Ser)
Xg.154904030C>GCA414906309F8c.5874G>C (p.Arg1958Ser)
c.5769G>C (p.Arg1923Ser)
Xg.154904030C>TCA519717853F8c.5874G>A (p.Arg1958=)
c.5769G>A (p.Arg1923=)
Xg.154904031delCA2466828179F8c.5874del (p.Ile1959PhefsTer?)
c.5769del (p.Ile1924PhefsTer?)
 dbSNP
Xg.154904031C>ACA414906310F8c.5873G>T (p.Arg1958Met)
c.5768G>T (p.Arg1923Met)
Xg.154904031C=CA2466828180F8c.5873G= (p.Arg1958=)
c.5768G= (p.Arg1923=)
Xg.154904031C>GCA414906313F8c.5873G>C (p.Arg1958Thr)
c.5768G>C (p.Arg1923Thr)
 dbSNP
Xg.154904031C>TCA414906314F8c.5873G>A (p.Arg1958Lys)
c.5768G>A (p.Arg1923Lys)
Xg.154904032T>ACA414906320F8c.5872A>T (p.Arg1958Trp)
c.5767A>T (p.Arg1923Trp)
Xg.154904032T>CCA414906316F8c.5872A>G (p.Arg1958Gly)
c.5767A>G (p.Arg1923Gly)
Xg.154904032T>GCA519717859F8c.5872A>C (p.Arg1958=)
c.5767A>C (p.Arg1923=)
Xg.154904033T>ACA414906322F8c.5871A>T (p.Gln1957His)
c.5766A>T (p.Gln1922His)
Xg.154904033T>CCA519717862F8c.5871A>G (p.Gln1957=)
c.5766A>G (p.Gln1922=)
Xg.154904033T>GCA414906324F8c.5871A>C (p.Gln1957His)
c.5766A>C (p.Gln1922His)
Xg.154904034T>ACA414906334F8c.5870A>T (p.Gln1957Leu)
c.5765A>T (p.Gln1922Leu)
Xg.154904034T>CCA414906338F8c.5870A>G (p.Gln1957Arg)
c.5765A>G (p.Gln1922Arg)
Xg.154904034T>GCA414906339F8c.5870A>C (p.Gln1957Pro)
c.5765A>C (p.Gln1922Pro)
Xg.154904035G>ACA414906340F8c.5869C>T (p.Gln1957Ter)
c.5764C>T (p.Gln1922Ter)
Xg.154904035G>CCA414906341F8c.5869C>G (p.Gln1957Glu)
c.5764C>G (p.Gln1922Glu)
 gnomAD v4
Xg.154904035G>TCA414906342F8c.5869C>A (p.Gln1957Lys)
c.5764C>A (p.Gln1922Lys)
Xg.154904036A>CCA414906344F8c.5868T>G (p.Asp1956Glu)
c.5763T>G (p.Asp1921Glu)
Xg.154904036A>GCA519717872F8c.5868T>C (p.Asp1956=)
c.5763T>C (p.Asp1921=)
Xg.154904036A>TCA414906347F8c.5868T>A (p.Asp1956Glu)
c.5763T>A (p.Asp1921Glu)
Xg.154904037T>ACA414906351F8c.5867A>T (p.Asp1956Val)
c.5762A>T (p.Asp1921Val)
Xg.154904037T>CCA414906352F8c.5867A>G (p.Asp1956Gly)
c.5762A>G (p.Asp1921Gly)
Xg.154904037T>GCA414906353F8c.5867A>C (p.Asp1956Ala)
c.5762A>C (p.Asp1921Ala)
Xg.154904037_154904038dupCA2695237971F8c.5866_5867dup (p.Asp1956GlufsTer?)
c.5761_5762dup (p.Asp1921GlufsTer?)
Xg.154904038C>ACA414906367F8c.5866G>T (p.Asp1956Tyr)
c.5761G>T (p.Asp1921Tyr)
Xg.154904038C>GCA414906355F8c.5866G>C (p.Asp1956His)
c.5761G>C (p.Asp1921His)
 gnomAD v4
Xg.154904038C>TCA414906364F8c.5866G>A (p.Asp1956Asn)
c.5761G>A (p.Asp1921Asn)
Xg.154904040_154904045delCA2695237972F8c.5861_5866del (p.Ala1954_Gln1955del)
c.5756_5761del (p.Ala1919_Gln1920del)
Xg.154904039C>ACA414906370F8c.5865G>T (p.Gln1955His)
c.5760G>T (p.Gln1920His)
Xg.154904039C>GCA414906373F8c.5865G>C (p.Gln1955His)
c.5760G>C (p.Gln1920His)
Xg.154904039C>TCA519717884F8c.5865G>A (p.Gln1955=)
c.5760G>A (p.Gln1920=)
Xg.154904040T>ACA414906376F8c.5864A>T (p.Gln1955Leu)
c.5759A>T (p.Gln1920Leu)
Xg.154904040T>CCA414906377F8c.5864A>G (p.Gln1955Arg)
c.5759A>G (p.Gln1920Arg)
Xg.154904040T>GCA414906378F8c.5864A>C (p.Gln1955Pro)
c.5759A>C (p.Gln1920Pro)
 gnomAD v4
Xg.154904041G>ACA414906382F8c.5863C>T (p.Gln1955Ter)
c.5758C>T (p.Gln1920Ter)
Xg.154904041G>CCA414906385F8c.5863C>G (p.Gln1955Glu)
c.5758C>G (p.Gln1920Glu)
 ClinVar dbSNP gnomAD v4
Xg.154904041G>TCA414906387F8c.5863C>A (p.Gln1955Lys)
c.5758C>A (p.Gln1920Lys)
Xg.154904042A>CCA519717902F8c.5862T>G (p.Ala1954=)
c.5757T>G (p.Ala1919=)
Xg.154904042A>GCA519717904F8c.5862T>C (p.Ala1954=)
c.5757T>C (p.Ala1919=)
Xg.154904042A>TCA519717906F8c.5862T>A (p.Ala1954=)
c.5757T>A (p.Ala1919=)
Xg.154904043G>ACA414906398F8c.5861C>T (p.Ala1954Val)
c.5756C>T (p.Ala1919Val)
Xg.154904043G>CCA414906403F8c.5861C>G (p.Ala1954Gly)
c.5756C>G (p.Ala1919Gly)
Xg.154904043G>TCA414906409F8c.5861C>A (p.Ala1954Asp)
c.5756C>A (p.Ala1919Asp)
Xg.154904044C>ACA414906412F8c.5860G>T (p.Ala1954Ser)
c.5755G>T (p.Ala1919Ser)
Xg.154904044C>GCA414906422F8c.5860G>C (p.Ala1954Pro)
c.5755G>C (p.Ala1919Pro)
Xg.154904044C>TCA414906415F8c.5860G>A (p.Ala1954Thr)
c.5755G>A (p.Ala1919Thr)
Xg.154904045C>ACA414906426F8c.5859G>T (p.Met1953Ile)
c.5754G>T (p.Met1918Ile)
Xg.154904045C>GCA414906440F8c.5859G>C (p.Met1953Ile)
c.5754G>C (p.Met1918Ile)
Xg.154904045C>TCA414906438F8c.5859G>A (p.Met1953Ile)
c.5754G>A (p.Met1918Ile)
 gnomAD v4
Xg.154904046A=CA2466828181F8c.5858T= (p.Met1953=)
c.5753T= (p.Met1918=)
Xg.154904046A>CCA414906445F8c.5858T>G (p.Met1953Arg)
c.5753T>G (p.Met1918Arg)
Xg.154904046A>GCA10567928F8c.5858T>C (p.Met1953Thr)
c.5753T>C (p.Met1918Thr)
 dbSNP ExAC gnomAD v3 gnomAD v4
Xg.154904046A>TCA414906447F8c.5858T>A (p.Met1953Lys)
c.5753T>A (p.Met1918Lys)
Xg.154904047T>ACA414906450F8c.5857A>T (p.Met1953Leu)
c.5752A>T (p.Met1918Leu)
Xg.154904047T>CCA414906460F8c.5857A>G (p.Met1953Val)
c.5752A>G (p.Met1918Val)
Xg.154904047T>GCA414906461F8c.5857A>C (p.Met1953Leu)
c.5752A>C (p.Met1918Leu)
Xg.154904048T>ACA519717928F8c.5856A>T (p.Val1952=)
c.5751A>T (p.Val1917=)
Xg.154904048T>CCA519717933F8c.5856A>G (p.Val1952=)
c.5751A>G (p.Val1917=)
Xg.154904048T>GCA519717932F8c.5856A>C (p.Val1952=)
c.5751A>C (p.Val1917=)
Xg.154904048_154904049dupCA2695237975F8c.5855_5856dup (p.Met1953Ter)
c.5750_5751dup (p.Met1918Ter)
Xg.154904049A=CA2466828182F8c.5855T= (p.Val1952=)
c.5750T= (p.Val1917=)
Xg.154904049A>CCA414906464F8c.5855T>G (p.Val1952Gly)
c.5750T>G (p.Val1917Gly)
Xg.154904049A>GCA414906467F8c.5855T>C (p.Val1952Ala)
c.5750T>C (p.Val1917Ala)
Xg.154904049A>TCA414906469F8c.5855T>A (p.Val1952Glu)
c.5750T>A (p.Val1917Glu)
 ClinVar dbSNP
Xg.154904050C>ACA414906480F8c.5854G>T (p.Val1952Leu)
c.5749G>T (p.Val1917Leu)
 gnomAD v4
Xg.154904050C>GCA414906479F8c.5854G>C (p.Val1952Leu)
c.5749G>C (p.Val1917Leu)
Xg.154904050C>TCA414906474F8c.5854G>A (p.Val1952Ile)
c.5749G>A (p.Val1917Ile)
Xg.154904050dupCA1139667898F8c.5854dup (p.Val1952GlyfsTer19)
c.5749dup (p.Val1917GlyfsTer19)
Xg.154904051T>ACA414906484F8c.5853A>T (p.Leu1951Phe)
c.5748A>T (p.Leu1916Phe)
 ClinVar
Xg.154904051T>CCA519717947F8c.5853A>G (p.Leu1951=)
c.5748A>G (p.Leu1916=)
Xg.154904051T>GCA414906485F8c.5853A>C (p.Leu1951Phe)
c.5748A>C (p.Leu1916Phe)
 ClinVar
Xg.154904052A>CCA414906486F8c.5852T>G (p.Leu1951Ter)
c.5747T>G (p.Leu1916Ter)
Xg.154904052A>GCA414906490F8c.5852T>C (p.Leu1951Ser)
c.5747T>C (p.Leu1916Ser)
Xg.154904052A>TCA414906493F8c.5852T>A (p.Leu1951Ter)
c.5747T>A (p.Leu1916Ter)
Xg.154904053A>CCA414906495F8c.5851T>G (p.Leu1951Val)
c.5746T>G (p.Leu1916Val)
Xg.154904053A>GCA519717955F8c.5851T>C (p.Leu1951=)
c.5746T>C (p.Leu1916=)
 ClinVar
Xg.154904053A>TCA414906501F8c.5851T>A (p.Leu1951Ile)
c.5746T>A (p.Leu1916Ile)
Xg.154904054G>ACA519717957F8c.5850C>T (p.Gly1950=)
c.5745C>T (p.Gly1915=)
Xg.154904054G>CCA519717958F8c.5850C>G (p.Gly1950=)
c.5745C>G (p.Gly1915=)
Xg.154904054G>TCA519717959F8c.5850C>A (p.Gly1950=)
c.5745C>A (p.Gly1915=)
 gnomAD v4
Xg.154904055C>ACA414906505F8c.5849G>T (p.Gly1950Val)
c.5744G>T (p.Gly1915Val)
Xg.154904055C>GCA414906506F8c.5849G>C (p.Gly1950Ala)
c.5744G>C (p.Gly1915Ala)
Xg.154904055C>TCA414906507F8c.5849G>A (p.Gly1950Asp)
c.5744G>A (p.Gly1915Asp)
Xg.154904056C>ACA414906512F8c.5848G>T (p.Gly1950Cys)
c.5743G>T (p.Gly1915Cys)
Xg.154904056C>GCA414906516F8c.5848G>C (p.Gly1950Arg)
c.5743G>C (p.Gly1915Arg)
Xg.154904056C>TCA414906510F8c.5848G>A (p.Gly1950Ser)
c.5743G>A (p.Gly1915Ser)
Xg.154904057delCA2695167990F8c.5847del (p.Gly1950AlafsTer2)
c.5742del (p.Gly1915AlafsTer2)
 gnomAD v4
Xg.154904057A>CCA519717978F8c.5847T>G (p.Pro1949=)
c.5742T>G (p.Pro1914=)
Xg.154904057A>GCA519717977F8c.5847T>C (p.Pro1949=)
c.5742T>C (p.Pro1914=)
Xg.154904057A>TCA519717976F8c.5847T>A (p.Pro1949=)
c.5742T>A (p.Pro1914=)
Xg.154904058G>ACA414906527F8c.5846C>T (p.Pro1949Leu)
c.5741C>T (p.Pro1914Leu)
Xg.154904058G>CCA414906536F8c.5846C>G (p.Pro1949Arg)
c.5741C>G (p.Pro1914Arg)
Xg.154904058G>TCA414906538F8c.5846C>A (p.Pro1949His)
c.5741C>A (p.Pro1914His)
Xg.154904059G>ACA414906541F8c.5845C>T (p.Pro1949Ser)
c.5740C>T (p.Pro1914Ser)
Xg.154904059G>CCA414906542F8c.5845C>G (p.Pro1949Ala)
c.5740C>G (p.Pro1914Ala)
Xg.154904059G>TCA414906545F8c.5845C>A (p.Pro1949Thr)
c.5740C>A (p.Pro1914Thr)
Xg.154904060T>ACA519717986F8c.5844A>T (p.Leu1948=)
c.5739A>T (p.Leu1913=)
Xg.154904060T>CCA519717987F8c.5844A>G (p.Leu1948=)
c.5739A>G (p.Leu1913=)
 gnomAD v4 COSMIC COSMIC
Xg.154904060T>GCA519717988F8c.5844A>C (p.Leu1948=)
c.5739A>C (p.Leu1913=)
Xg.154904061A=CA2466828183F8c.5843T= (p.Leu1948=)
c.5738T= (p.Leu1913=)
Xg.154904061A>CCA414906546F8c.5843T>G (p.Leu1948Arg)
c.5738T>G (p.Leu1913Arg)
 ClinVar dbSNP
Xg.154904061A>GCA414906548F8c.5843T>C (p.Leu1948Pro)
c.5738T>C (p.Leu1913Pro)
 dbSNP
Xg.154904061A>TCA414906551F8c.5843T>A (p.Leu1948Gln)
c.5738T>A (p.Leu1913Gln)
Xg.154904061dupCA2695237977F8c.5843dup (p.Pro1949ThrfsTer22)
c.5738dup (p.Pro1914ThrfsTer22)
Xg.154904062G>ACA519717990F8c.5842C>T (p.Leu1948=)
c.5737C>T (p.Leu1913=)
Xg.154904062G>CCA414906554F8c.5842C>G (p.Leu1948Val)
c.5737C>G (p.Leu1913Val)
Xg.154904062G>TCA414906555F8c.5842C>A (p.Leu1948Ile)
c.5737C>A (p.Leu1913Ile)
Xg.154904063T>ACA519717995F8c.5841A>T (p.Thr1947=)
c.5736A>T (p.Thr1912=)
Xg.154904063T>CCA519717997F8c.5841A>G (p.Thr1947=)
c.5736A>G (p.Thr1912=)
 gnomAD v4
Xg.154904063T>GCA519717999F8c.5841A>C (p.Thr1947=)
c.5736A>C (p.Thr1912=)
Xg.154904067_154904077delCA2695237978F8c.5831_5841del (p.Ile1944ThrfsTer23)
c.5726_5736del (p.Ile1909ThrfsTer23)
Xg.154904064G>ACA414906560F8c.5840C>T (p.Thr1947Ile)
c.5735C>T (p.Thr1912Ile)
 dbSNP gnomAD v4
Xg.154904064G>CCA414906558F8c.5840C>G (p.Thr1947Arg)
c.5735C>G (p.Thr1912Arg)
Xg.154904064G=CA2466828184F8c.5840C= (p.Thr1947=)
c.5735C= (p.Thr1912=)
Xg.154904064G>TCA414906559F8c.5840C>A (p.Thr1947Lys)
c.5735C>A (p.Thr1912Lys)

Number of alleles fetched