Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.50543850G>CCA2682813269DDCc.201+35C>G (n.201+35C>G)
c.98+35C>G
 gnomAD v4
7g.50543850G=CA1706650777DDCc.201+35C= (n.201+35C=)
c.98+35C=
7g.50543850G>TCA4262464DDCc.201+35C>A (n.201+35C>A)
c.98+35C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50543853delCA2682813270DDCc.201+34del (n.201+34del)
c.98+34del
 gnomAD v4
7g.50543852C>ACA2682813271DDCc.201+33G>T (n.201+33G>T)
c.98+33G>T
 gnomAD v4
7g.50543853C=CA1706650780DDCc.201+32G= (n.201+32G=)
c.98+32G=
7g.50543853C>TCA4262465DDCc.201+32G>A (n.201+32G>A)
c.98+32G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50543855_50543882delCA2682813272DDCc.201+4_201+31del (n.201+4_201+31del)
c.98+4_98+31del
 gnomAD v4
7g.50543857T>CCA1101206605DDCc.201+28A>G (n.201+28A>G)
c.98+28A>G
 dbSNP gnomAD v3 gnomAD v4
7g.50543857T=CA1706650782DDCc.201+28A= (n.201+28A=)
c.98+28A=
7g.50543858G>CCA574695443DDCc.201+27C>G (n.201+27C>G)
c.98+27C>G
 dbSNP gnomAD v2 gnomAD v4
7g.50543858G=CA1706650784DDCc.201+27C= (n.201+27C=)
c.98+27C=
7g.50543859T>CCA1706650788DDCc.201+26A>G (n.201+26A>G)
c.98+26A>G
 dbSNP
7g.50543859T=CA1706650787DDCc.201+26A= (n.201+26A=)
c.98+26A=
7g.50543862T>CCA574695444DDCc.201+23A>G (n.201+23A>G)
c.98+23A>G
 dbSNP gnomAD v2 gnomAD v4
7g.50543862T=CA1706650790DDCc.201+23A= (n.201+23A=)
c.98+23A=
7g.50543863C>TCA2682813273DDCc.201+22G>A (n.201+22G>A)
c.98+22G>A
 gnomAD v4
7g.50543864T>CCA2682813274DDCc.201+21A>G (n.201+21A>G)
c.98+21A>G
 gnomAD v4
7g.50543865G>ACA574695445DDCc.201+20C>T (n.201+20C>T)
c.98+20C>T
 dbSNP gnomAD v2 gnomAD v4
7g.50543865G=CA1706650792DDCc.201+20C= (n.201+20C=)
c.98+20C=
7g.50543865G>TCA2578891648DDCc.201+20C>A (n.201+20C>A)
c.98+20C>A
 gnomAD v4
7g.50543866A>GCA2682813275DDCc.201+19T>C (n.201+19T>C)
c.98+19T>C
 gnomAD v4
7g.50543868C>ACA2682813276DDCc.201+17G>T (n.201+17G>T)
c.98+17G>T
 gnomAD v4
7g.50543868C=CA1706650795DDCc.201+17G= (n.201+17G=)
c.98+17G=
7g.50543868C>GCA4262466DDCc.201+17G>C (n.201+17G>C)
c.98+17G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50543868C>TCA2682813277DDCc.201+17G>A (n.201+17G>A)
c.98+17G>A
 gnomAD v4
7g.50543870dupCA2682813278DDCc.201+16dup (n.201+16dup)
c.98+16dup
 gnomAD v4
7g.50543870T>GCA2682813279DDCc.201+15A>C (n.201+15A>C)
c.98+15A>C
 gnomAD v4
7g.50543871G>CCA2682813280DDCc.201+14C>G (n.201+14C>G)
c.98+14C>G
 gnomAD v4
7g.50543871G=CA1706650798DDCc.201+14C= (n.201+14C=)
c.98+14C=
7g.50543871G>TCA1101206610DDCc.201+14C>A (n.201+14C>A)
c.98+14C>A
 dbSNP gnomAD v3 gnomAD v4
7g.50543872G>TCA2682813281DDCc.201+13C>A (n.201+13C>A)
c.98+13C>A
 gnomAD v4
7g.50543874T>CCA839353255DDCc.201+11A>G (n.201+11A>G)
c.98+11A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.50543874T=CA1706650800DDCc.201+11A= (n.201+11A=)
c.98+11A=
7g.50543877A=CA1706650806DDCc.201+8T= (n.201+8T=)
c.98+8T=
7g.50543877A>CCA4262467DDCc.201+8T>G (n.201+8T>G)
c.98+8T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.50543877A>GCA4262468DDCc.201+8T>C (n.201+8T>C)
c.98+8T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50543878C>ACA574695446DDCc.201+7G>T (n.201+7G>T)
c.98+7G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.50543878C=CA1706650811DDCc.201+7G= (n.201+7G=)
c.98+7G=
7g.50543878C>TCA1101206615DDCc.201+7G>A (n.201+7G>A)
c.98+7G>A
 dbSNP gnomAD v3 gnomAD v4
7g.50543878_50543882delinsCACTTCA1706650809DDCc.201+3_201+7delinsAAGTG (n.201+3_201+7delinsAAGTG)
c.98+3_98+7delinsAAGTG
7g.50543879A>CCA2682813282DDCc.201+6T>G (n.201+6T>G)
c.98+6T>G
 gnomAD v4
7g.50543881_50543884delCA574695447DDCc.201+3_201+6del (n.201+3_201+6del)
c.98+3_98+6del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.50543880C=CA1706650812DDCc.201+5G= (n.201+5G=)
c.98+5G=
7g.50543880C>GCA1706650813DDCc.201+5G>C (n.201+5G>C)
c.98+5G>C
 ClinVar dbSNP gnomAD v4
7g.50543880C>TCA2682813283DDCc.201+5G>A (n.201+5G>A)
c.98+5G>A
 gnomAD v4
7g.50543881T>CCA1706650815DDCc.201+4A>G (n.201+4A>G)
c.98+4A>G
 ClinVar dbSNP gnomAD v4
7g.50543881T=CA1706650814DDCc.201+4A= (n.201+4A=)
c.98+4A=
7g.50543883A=CA1706650817DDCc.201+2T= (n.201+2T=)
c.98+2T=
7g.50543883A>CCA367531216DDCc.201+2T>G (n.201+2T>G)
c.98+2T>G
7g.50543883A>GCA4262469DDCc.201+2T>C (n.201+2T>C)
c.98+2T>C
 dbSNP ExAC
7g.50543883A>TCA367531219DDCc.201+2T>A (n.201+2T>A)
c.98+2T>A
7g.50543884C>ACA367531223DDCc.201+1G>T (n.201+1G>T)
c.98+1G>T
7g.50543884C=CA1706650820DDCc.201+1G= (n.201+1G=)
c.98+1G=
7g.50543884C>GCA367531226DDCc.201+1G>C (n.201+1G>C)
c.98+1G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.50543884C>TCA367531228DDCc.201+1G>A (n.201+1G>A)
c.98+1G>A
7g.50543887delCA2682813284DDCc.201+1del
c.98+1del
 gnomAD v4
7g.50543885C>ACA454943281DDCc.201G>T (p.Gly67=)
c.98G>T
7g.50543885C=CA1706650822DDCc.201G= (p.Gly67=)
c.98G=
7g.50543885C>GCA454943282DDCc.201G>C (p.Gly67=)
c.98G>C
7g.50543885C>TCA4262470DDCc.201G>A (p.Gly67=)
c.98G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.50543886C>ACA367531234DDCc.200G>T (p.Gly67Val)
c.97G>T
 gnomAD v4
7g.50543886C=CA1706650825DDCc.200G= (p.Gly67=)
c.97G=
7g.50543886C>GCA367531235DDCc.200G>C (p.Gly67Ala)
c.97G>C
7g.50543886C>TCA4262471DDCc.200G>A (p.Gly67Glu)
c.97G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50543887C>ACA367531243DDCc.199G>T (p.Gly67Trp)
c.96G>T
7g.50543887C=CA1706650829DDCc.199G= (p.Gly67=)
c.96G=
7g.50543887C>GCA367531244DDCc.199G>C (p.Gly67Arg)
c.96G>C
7g.50543887C>TCA367531248DDCc.199G>A (p.Gly67Arg)
c.96G>A
 dbSNP
7g.50543888delCA2838563780DDCc.198del (p.Val68Ter)
c.198del (p.Gly68GlufsTer18)
c.95del
c.198del (p.Ala68ArgfsTer12)
7g.50543888A>CCA454943283DDCc.198T>G (p.Pro66=)
c.95T>G
7g.50543888A>GCA454943285DDCc.198T>C (p.Pro66=)
c.95T>C
7g.50543888A>TCA454943284DDCc.198T>A (p.Pro66=)
c.95T>A
7g.50543889G>ACA367531251DDCc.197C>T (p.Pro66Leu)
c.94C>T
7g.50543889G>CCA367531254DDCc.197C>G (p.Pro66Arg)
c.94C>G
 dbSNP gnomAD v4
7g.50543889G=CA1706650831DDCc.197C= (p.Pro66=)
c.94C=
7g.50543889G>TCA367531256DDCc.197C>A (p.Pro66His)
c.94C>A
7g.50543890G>ACA4262472DDCc.196C>T (p.Pro66Ser)
c.93C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.50543890G>CCA367531262DDCc.196C>G (p.Pro66Ala)
c.93C>G
7g.50543890G=CA1706650833DDCc.196C= (p.Pro66=)
c.93C=
7g.50543890G>TCA367531267DDCc.196C>A (p.Pro66Thr)
c.93C>A
7g.50543890_50543891dupCA2682813285DDCc.195_196dup (p.Pro66ArgfsTer4)
c.195_196dup (p.Pro66ArgfsTer21)
c.92_93dup
c.195_196dup (p.Pro66ArgfsTer15)
 gnomAD v4
7g.50543891C>ACA367531276DDCc.195G>T (p.Met65Ile)
c.92G>T
 gnomAD v4
7g.50543891C=CA1706650835DDCc.195G= (p.Met65=)
c.92G=
7g.50543891C>GCA367531273DDCc.195G>C (p.Met65Ile)
c.92G>C
7g.50543891C>TCA367531269DDCc.195G>A (p.Met65Ile)
c.92G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.50543892A=CA1706650837DDCc.194T= (p.Met65=)
c.91T=
7g.50543892A>CCA367531280DDCc.194T>G (p.Met65Arg)
c.91T>G
7g.50543892A>GCA367531283DDCc.194T>C (p.Met65Thr)
c.91T>C
7g.50543892A>TCA158234562DDCc.194T>A (p.Met65Lys)
c.91T>A
 dbSNP gnomAD v4
7g.50543892_50543893insGGGACTGAGTCTCAGGGGACCTGGGGGAAAGAGCCTCACTGCCCTTGGATTTGGATTTTAATCCCA2682813286DDCc.193_194insGGATTAAAATCCAAATCCAAGGGCAGTGAGGCTCTTTCCCCCAGGTCCCCTGAGACTCAGTCCC (p.Met65ArgfsTer10)
c.90_91insGGATTAAAATCCAAATCCAAGGGCAGTGAGGCTCTTTCCCCCAGGTCCCCTGAGACTCAGTCCC
 gnomAD v4
7g.50543893T>ACA367531289DDCc.193A>T (p.Met65Leu)
c.90A>T
7g.50543893T>CCA367531293DDCc.193A>G (p.Met65Val)
c.90A>G
7g.50543893T>GCA367531298DDCc.193A>C (p.Met65Leu)
c.90A>C
7g.50543894G>ACA454943286DDCc.192C>T (p.Ile64=)
c.89C>T
7g.50543894G>CCA367531300DDCc.192C>G (p.Ile64Met)
c.89C>G
7g.50543894G>TCA454943287DDCc.192C>A (p.Ile64=)
c.89C>A
 gnomAD v4
7g.50543895A=CA1706650843DDCc.191T= (p.Ile64=)
c.88T=
7g.50543895A>CCA367531303DDCc.191T>G (p.Ile64Ser)
c.88T>G
7g.50543895A>GCA367531311DDCc.191T>C (p.Ile64Thr)
c.88T>C
 dbSNP gnomAD v4
7g.50543895A>TCA367531307DDCc.191T>A (p.Ile64Asn)
c.88T>A
7g.50543896T>ACA367531314DDCc.190A>T (p.Ile64Phe)
c.87A>T
7g.50543896T>CCA367531318DDCc.190A>G (p.Ile64Val)
c.87A>G
 dbSNP
7g.50543896T>GCA367531321DDCc.190A>C (p.Ile64Leu)
c.87A>C
7g.50543896T=CA1706650850DDCc.190A= (p.Ile64=)
c.87A=
7g.50543897T>ACA454943289DDCc.189A>T (p.Ile63=)
c.86A>T
7g.50543897T>CCA367531325DDCc.189A>G (p.Ile63Met)
c.86A>G
7g.50543897T>GCA454943288DDCc.189A>C (p.Ile63=)
c.86A>C
7g.50543898A>CCA367531329DDCc.188T>G (p.Ile63Arg)
c.85T>G
7g.50543898A>GCA367531336DDCc.188T>C (p.Ile63Thr)
c.85T>C
7g.50543898A>TCA367531333DDCc.188T>A (p.Ile63Lys)
c.85T>A
7g.50543899T>ACA367531341DDCc.187A>T (p.Ile63Leu)
c.84A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.50543899T>CCA4262473DDCc.187A>G (p.Ile63Val)
c.84A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50543899T>GCA367531347DDCc.187A>C (p.Ile63Leu)
c.84A>C
7g.50543899T=CA1706653847DDCc.187A= (p.Ile63=)
c.84A=
7g.50543900C>ACA367531349DDCc.186G>T (p.Lys62Asn)
c.83G>T
7g.50543900C=CA1706653848DDCc.186G= (p.Lys62=)
c.83G=
7g.50543900C>GCA4262474DDCc.186G>C (p.Lys62Asn)
c.83G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.50543900C>TCA454943290DDCc.186G>A (p.Lys62=)
c.83G>A
 gnomAD v4
7g.50543901T>ACA367531354DDCc.185A>T (p.Lys62Met)
c.82A>T
7g.50543901T>CCA367531356DDCc.185A>G (p.Lys62Arg)
c.82A>G
7g.50543901T>GCA367531364DDCc.185A>C (p.Lys62Thr)
c.82A>C
7g.50543902T>ACA367531372DDCc.184A>T (p.Lys62Ter)
c.81A>T
7g.50543902T>CCA367531376DDCc.184A>G (p.Lys62Glu)
c.81A>G
7g.50543902T>GCA367531378DDCc.184A>C (p.Lys62Gln)
c.81A>C
7g.50543903C>ACA4262475DDCc.183G>T (p.Glu61Asp)
c.80G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50543903C=CA1706653849DDCc.183G= (p.Glu61=)
c.80G=
7g.50543903C>GCA367531381DDCc.183G>C (p.Glu61Asp)
c.80G>C
7g.50543903C>TCA454943291DDCc.183G>A (p.Glu61=)
c.80G>A
 dbSNP gnomAD v3 gnomAD v4
7g.50543904T>ACA367531382DDCc.182A>T (p.Glu61Val)
c.79A>T
 gnomAD v4
7g.50543904T>CCA367531383DDCc.182A>G (p.Glu61Gly)
c.79A>G
7g.50543904T>GCA367531385DDCc.182A>C (p.Glu61Ala)
c.79A>C
7g.50543905C>ACA367531387DDCc.181G>T (p.Glu61Ter)
c.78G>T
7g.50543905C>GCA367531402DDCc.181G>C (p.Glu61Gln)
c.78G>C
7g.50543905C>TCA367531405DDCc.181G>A (p.Glu61Lys)
c.78G>A
7g.50543906A>CCA454943293DDCc.180T>G (p.Val60=)
c.77T>G
 gnomAD v4
7g.50543906A>GCA454943294DDCc.180T>C (p.Val60=)
c.77T>C
 ClinVar dbSNP
7g.50543906A>TCA454943295DDCc.180T>A (p.Val60=)
c.77T>A
7g.50543907A=CA1706653850DDCc.179T= (p.Val60=)
c.76T=
7g.50543907A>CCA367531415DDCc.179T>G (p.Val60Gly)
c.76T>G
7g.50543907A>GCA4262476DDCc.179T>C (p.Val60Ala)
c.76T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50543907A>TCA367531412DDCc.179T>A (p.Val60Asp)
c.76T>A
 dbSNP gnomAD v3 gnomAD v4
7g.50543908C>ACA367531419DDCc.178G>T (p.Val60Phe)
c.75G>T
7g.50543908C=CA1706653851DDCc.178G= (p.Val60=)
c.75G=
7g.50543908C>GCA367531422DDCc.178G>C (p.Val60Leu)
c.75G>C
7g.50543908C>TCA4262477DDCc.178G>A (p.Val60Ile)
c.75G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50543909G>ACA4262478DDCc.177C>T (p.Asp59=)
c.74C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50543909G>CCA367531440DDCc.177C>G (p.Asp59Glu)
c.74C>G
7g.50543909G=CA1706653852DDCc.177C= (p.Asp59=)
c.74C=
7g.50543909G>TCA367531452DDCc.177C>A (p.Asp59Glu)
c.74C>A
 COSMIC COSMIC
7g.50543910T>ACA367531457DDCc.176A>T (p.Asp59Val)
c.73A>T
7g.50543910T>CCA367531455DDCc.176A>G (p.Asp59Gly)
c.73A>G
7g.50543910T>GCA367531456DDCc.176A>C (p.Asp59Ala)
c.73A>C
7g.50543911C>ACA367531458DDCc.175G>T (p.Asp59Tyr)
c.72G>T
 ClinVar
7g.50543911C=CA1706653853DDCc.175G= (p.Asp59=)
c.72G=
7g.50543911C>GCA367531461DDCc.175G>C (p.Asp59His)
c.72G>C
 ClinVar dbSNP
7g.50543911C>TCA158234563DDCc.175G>A (p.Asp59Asn)
c.72G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
7g.50543912G>ACA4262479DDCc.174C>T (p.Asn58=)
c.71C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.50543912G>CCA4262480DDCc.174C>G (p.Asn58Lys)
c.71C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50543912G=CA1706653854DDCc.174C= (p.Asn58=)
c.71C=
7g.50543912G>TCA367531473DDCc.174C>A (p.Asn58Lys)
c.71C>A
 dbSNP gnomAD v4
7g.50543913T>ACA367531476DDCc.173A>T (p.Asn58Ile)
c.70A>T
7g.50543913T>CCA367531479DDCc.173A>G (p.Asn58Ser)
c.70A>G
7g.50543913T>GCA367531481DDCc.173A>C (p.Asn58Thr)
c.70A>C
7g.50543914T>ACA367531486DDCc.172A>T (p.Asn58Tyr)
c.69A>T
7g.50543914T>CCA367531489DDCc.172A>G (p.Asn58Asp)
c.69A>G
7g.50543914T>GCA367531491DDCc.172A>C (p.Asn58His)
c.69A>C
7g.50543919_50543921delCA2682813287DDCc.170_172del (p.Ile57del)
c.67_69del
 gnomAD v4
7g.50543915G>ACA454943296DDCc.171C>T (p.Ile57=)
c.68C>T
 COSMIC COSMIC
7g.50543915G>CCA367531493DDCc.171C>G (p.Ile57Met)
c.68C>G
7g.50543915G=CA1706653855DDCc.171C= (p.Ile57=)
c.68C=
7g.50543915G>TCA454943297DDCc.171C>A (p.Ile57=)
c.68C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.50543916A>CCA367531496DDCc.170T>G (p.Ile57Ser)
c.67T>G
7g.50543916A>GCA367531499DDCc.170T>C (p.Ile57Thr)
c.67T>C
 gnomAD v4
7g.50543916A>TCA367531497DDCc.170T>A (p.Ile57Asn)
c.67T>A
7g.50543917T>ACA367531502DDCc.169A>T (p.Ile57Phe)
c.66A>T
7g.50543917T>CCA367531503DDCc.169A>G (p.Ile57Val)
c.66A>G
 ClinVar dbSNP gnomAD v4
7g.50543917T>GCA367531512DDCc.169A>C (p.Ile57Leu)
c.66A>C
7g.50543918G>ACA454943298DDCc.168C>T (p.Ile56=)
c.65C>T
 ClinVar dbSNP
7g.50543918G>CCA367531515DDCc.168C>G (p.Ile56Met)
c.65C>G
7g.50543918G=CA1706653856DDCc.168C= (p.Ile56=)
c.65C=
7g.50543918G>TCA454943299DDCc.168C>A (p.Ile56=)
c.65C>A
7g.50543919A>CCA367531518DDCc.167T>G (p.Ile56Ser)
c.64T>G
7g.50543919A>GCA367531525DDCc.167T>C (p.Ile56Thr)
c.64T>C
7g.50543919A>TCA367531528DDCc.167T>A (p.Ile56Asn)
c.64T>A
 COSMIC
7g.50543920T>ACA367531534DDCc.166A>T (p.Ile56Phe)
c.63A>T
7g.50543920T>CCA367531536DDCc.166A>G (p.Ile56Val)
c.63A>G
 dbSNP gnomAD v2 gnomAD v4
7g.50543920T>GCA367531537DDCc.166A>C (p.Ile56Leu)
c.63A>C
7g.50543920T=CA1706653857DDCc.166A= (p.Ile56=)
c.63A=
7g.50543921G>ACA454943300DDCc.165C>T (p.Asp55=)
c.62C>T
 ClinVar
7g.50543921G>CCA367531539DDCc.165C>G (p.Asp55Glu)
c.62C>G
7g.50543921G>TCA367531541DDCc.165C>A (p.Asp55Glu)
c.62C>A
7g.50543922T>ACA367531548DDCc.164A>T (p.Asp55Val)
c.61A>T
7g.50543922T>CCA367531551DDCc.164A>G (p.Asp55Gly)
c.61A>G
7g.50543922T>GCA367531545DDCc.164A>C (p.Asp55Ala)
c.61A>C
7g.50543923C>ACA367531554DDCc.163G>T (p.Asp55Tyr)
c.60G>T
7g.50543923C>GCA367531555DDCc.163G>C (p.Asp55His)
c.60G>C
7g.50543923C>TCA367531556DDCc.163G>A (p.Asp55Asn)
c.60G>A
 gnomAD v4
7g.50543924C>ACA367531557DDCc.162G>T (p.Glu54Asp)
c.59G>T
7g.50543924C=CA1706653858DDCc.162G= (p.Glu54=)
c.59G=
7g.50543924C>GCA367531560DDCc.162G>C (p.Glu54Asp)
c.59G>C
7g.50543924C>TCA454943303DDCc.162G>A (p.Glu54=)
c.59G>A
 dbSNP gnomAD v3 gnomAD v4
7g.50543925T>ACA367531581DDCc.161A>T (p.Glu54Val)
c.58A>T
7g.50543925T>CCA367531563DDCc.161A>G (p.Glu54Gly)
c.58A>G
7g.50543925T>GCA367531568DDCc.161A>C (p.Glu54Ala)
c.58A>C
7g.50543926C>ACA367531583DDCc.160G>T (p.Glu54Ter)
c.57G>T
7g.50543926C=CA1706653859DDCc.160G= (p.Glu54=)
c.57G=
7g.50543926C>GCA367531586DDCc.160G>C (p.Glu54Gln)
c.57G>C
7g.50543926C>TCA4262481DDCc.160G>A (p.Glu54Lys)
c.57G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.50543927A>CCA367531595DDCc.159T>G (p.Phe53Leu)
c.56T>G
7g.50543927A>GCA454943304DDCc.159T>C (p.Phe53=)
c.56T>C
7g.50543927A>TCA367531598DDCc.159T>A (p.Phe53Leu)
c.56T>A
7g.50543928A>CCA367531601DDCc.158T>G (p.Phe53Cys)
c.55T>G
7g.50543928A>GCA367531608DDCc.158T>C (p.Phe53Ser)
c.55T>C
7g.50543928A>TCA367531604DDCc.158T>A (p.Phe53Tyr)
c.55T>A
7g.50543929A>CCA367531611DDCc.157T>G (p.Phe53Val)
c.54T>G
7g.50543929A>GCA367531613DDCc.157T>C (p.Phe53Leu)
c.54T>C
7g.50543929A>TCA367531612DDCc.157T>A (p.Phe53Ile)
c.54T>A
7g.50543930C>ACA454943305DDCc.156G>T (p.Thr52=)
c.53G>T
 gnomAD v4
7g.50543930C=CA1706653860DDCc.156G= (p.Thr52=)
c.53G=
7g.50543930C>GCA454943306DDCc.156G>C (p.Thr52=)
c.53G>C
7g.50543930C>TCA4262482DDCc.156G>A (p.Thr52=)
c.53G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50543931G>ACA4262483DDCc.155C>T (p.Thr52Met)
c.52C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.50543931G>CCA367531621DDCc.155C>G (p.Thr52Arg)
c.52C>G
7g.50543931G=CA1706653861DDCc.155C= (p.Thr52=)
c.52C=
7g.50543931G>TCA367531624DDCc.155C>A (p.Thr52Lys)
c.52C>A
7g.50543932T>ACA367531628DDCc.154A>T (p.Thr52Ser)
c.51A>T
7g.50543932T>CCA367531629DDCc.154A>G (p.Thr52Ala)
c.51A>G
 dbSNP gnomAD v2 gnomAD v4
7g.50543932T>GCA367531630DDCc.154A>C (p.Thr52Pro)
c.51A>C
7g.50543932T=CA1706653862DDCc.154A= (p.Thr52=)
c.51A=
7g.50543933G>ACA4262484DDCc.153C>T (p.Asp51=)
c.50C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50543933G>CCA367531633DDCc.153C>G (p.Asp51Glu)
c.50C>G
7g.50543933G=CA1706653863DDCc.153C= (p.Asp51=)
c.50C=
7g.50543933G>TCA367531635DDCc.153C>A (p.Asp51Glu)
c.50C>A
 gnomAD v4
7g.50543934T>ACA4262485DDCc.152A>T (p.Asp51Val)
c.49A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.50543934T>CCA367531646DDCc.152A>G (p.Asp51Gly)
c.49A>G
 dbSNP
7g.50543934T>GCA367531653DDCc.152A>C (p.Asp51Ala)
c.49A>C
7g.50543934T=CA1706653864DDCc.152A= (p.Asp51=)
c.49A=
7g.50543935C>ACA367531657DDCc.151G>T (p.Asp51Tyr)
c.48G>T
7g.50543935C>GCA367531663DDCc.151G>C (p.Asp51His)
c.48G>C
 gnomAD v4
7g.50543935C>TCA367531660DDCc.151G>A (p.Asp51Asn)
c.48G>A
 ClinVar dbSNP
7g.50543936T>ACA454943307DDCc.150A>T (p.Pro50=)
c.47A>T
7g.50543936T>CCA454943308DDCc.150A>G (p.Pro50=)
c.47A>G
7g.50543936T>GCA454943310DDCc.150A>C (p.Pro50=)
c.47A>C
7g.50543937G>ACA367531667DDCc.149C>T (p.Pro50Leu)
c.46C>T
7g.50543937G>CCA367531668DDCc.149C>G (p.Pro50Arg)
c.46C>G
 dbSNP
7g.50543937G>TCA367531669DDCc.149C>A (p.Pro50Gln)
c.46C>A
7g.50543938G>ACA4262486DDCc.148C>T (p.Pro50Ser)
c.45C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.50543938G>CCA158234564DDCc.148C>G (p.Pro50Ala)
c.45C>G
 dbSNP
7g.50543938G=CA1706653865DDCc.148C= (p.Pro50=)
c.45C=
7g.50543938G>TCA367531672DDCc.148C>A (p.Pro50Thr)
c.45C>A
 COSMIC COSMIC
7g.50543939C>ACA367531674DDCc.147G>T (p.Glu49Asp)
c.44G>T
7g.50543939C=CA1706653866DDCc.147G= (p.Glu49=)
c.44G=
7g.50543939C>GCA367531676DDCc.147G>C (p.Glu49Asp)
c.44G>C
7g.50543939C>TCA4262487DDCc.147G>A (p.Glu49=)
c.44G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50543940T>ACA367531714DDCc.146A>T (p.Glu49Val)
c.43A>T
7g.50543940T>CCA367531690DDCc.146A>G (p.Glu49Gly)
c.43A>G
 gnomAD v4
7g.50543940T>GCA367531681DDCc.146A>C (p.Glu49Ala)
c.43A>C
7g.50543941C>ACA367531729DDCc.145G>T (p.Glu49Ter)
c.42G>T
7g.50543941C>GCA367531737DDCc.145G>C (p.Glu49Gln)
c.42G>C
 gnomAD v4
7g.50543941C>TCA367531741DDCc.145G>A (p.Glu49Lys)
c.42G>A
 gnomAD v4
7g.50543942C>ACA367531745DDCc.144G>T (p.Gln48His)
c.41G>T
7g.50543942C=CA1706653867DDCc.144G= (p.Gln48=)
c.41G=
7g.50543942C>GCA367531747DDCc.144G>C (p.Gln48His)
c.41G>C
7g.50543942C>TCA454943318DDCc.144G>A (p.Gln48=)
c.41G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.50543943T>ACA367531752DDCc.143A>T (p.Gln48Leu)
c.40A>T
7g.50543943T>CCA367531749DDCc.143A>G (p.Gln48Arg)
c.40A>G
7g.50543943T>GCA367531748DDCc.143A>C (p.Gln48Pro)
c.40A>C
7g.50543944G>ACA367531762DDCc.142C>T (p.Gln48Ter)
c.39C>T
 gnomAD v4
7g.50543944G>CCA367531765DDCc.142C>G (p.Gln48Glu)
c.39C>G
7g.50543944G>TCA367531769DDCc.142C>A (p.Gln48Lys)
c.39C>A
7g.50543945A>CCA454943319DDCc.141T>G (p.Pro47=)
c.38T>G
7g.50543945A>GCA454943320DDCc.141T>C (p.Pro47=)
c.38T>C
7g.50543945A>TCA454943321DDCc.141T>A (p.Pro47=)
c.38T>A
7g.50543946G>ACA158234565DDCc.140C>T (p.Pro47Leu)
c.37C>T
 dbSNP
7g.50543946G>CCA367531774DDCc.140C>G (p.Pro47Arg)
c.37C>G
7g.50543946G=CA1706653868DDCc.140C= (p.Pro47=)
c.37C=
7g.50543946G>TCA4262488DDCc.140C>A (p.Pro47His)
c.37C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.50543947G>ACA367531778DDCc.139C>T (p.Pro47Ser)
c.36C>T
 COSMIC COSMIC
7g.50543947G>CCA367531782DDCc.139C>G (p.Pro47Ala)
c.36C>G
7g.50543947G>TCA367531779DDCc.139C>A (p.Pro47Thr)
c.36C>A
 ClinVar
7g.50543948G>ACA454943322DDCc.138C>T (p.Ala46=)
c.35C>T
 gnomAD v4
7g.50543948G>CCA454943323DDCc.138C>G (p.Ala46=)
c.35C>G
7g.50543948G>TCA454943325DDCc.138C>A (p.Ala46=)
c.35C>A
 COSMIC COSMIC
7g.50543949G>ACA158234566DDCc.137C>T (p.Ala46Val)
c.34C>T
 dbSNP
7g.50543949G>CCA367531785DDCc.137C>G (p.Ala46Gly)
c.34C>G
7g.50543949G=CA1706653869DDCc.137C= (p.Ala46=)
c.34C=
7g.50543949G>TCA367531787DDCc.137C>A (p.Ala46Asp)
c.34C>A

Number of alleles fetched