Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.132892119G>ACA1583372432AFF4c.2637+45C>T (n.2637+45C>T)
c.2682C>T (p.Cys894=)
c.1503+45C>T (n.1503+45C>T)
c.2550+45C>T (n.2550+45C>T)
 dbSNP
5g.132892119G>CCA360928083AFF4c.2637+45C>G (n.2637+45C>G)
c.2682C>G (p.Cys894Trp)
c.1503+45C>G (n.1503+45C>G)
c.2550+45C>G (n.2550+45C>G)
5g.132892119G=CA1583372431AFF4c.2637+45C= (n.2637+45C=)
c.2682C= (p.Cys894=)
c.1503+45C= (n.1503+45C=)
c.2550+45C= (n.2550+45C=)
5g.132892119G>TCA127269975AFF4c.2637+45C>A (n.2637+45C>A)
c.2682C>A (p.Cys894Ter)
c.1503+45C>A (n.1503+45C>A)
c.2550+45C>A (n.2550+45C>A)
 dbSNP gnomAD v4
5g.132892120C>ACA360928085AFF4c.2637+44G>T (n.2637+44G>T)
c.2681G>T (p.Cys894Phe)
c.1503+44G>T (n.1503+44G>T)
c.2550+44G>T (n.2550+44G>T)
5g.132892120C>GCA360928086AFF4c.2637+44G>C (n.2637+44G>C)
c.2681G>C (p.Cys894Ser)
c.1503+44G>C (n.1503+44G>C)
c.2550+44G>C (n.2550+44G>C)
5g.132892120C>TCA360928089AFF4c.2637+44G>A (n.2637+44G>A)
c.2681G>A (p.Cys894Tyr)
c.1503+44G>A (n.1503+44G>A)
c.2550+44G>A (n.2550+44G>A)
5g.132892121A=CA1583372433AFF4c.2637+43T= (n.2637+43T=)
c.2680T= (p.Cys894=)
c.1503+43T= (n.1503+43T=)
c.2550+43T= (n.2550+43T=)
5g.132892121A>CCA360928092AFF4c.2637+43T>G (n.2637+43T>G)
c.2680T>G (p.Cys894Gly)
c.1503+43T>G (n.1503+43T>G)
c.2550+43T>G (n.2550+43T>G)
5g.132892121A>GCA127269980AFF4c.2637+43T>C (n.2637+43T>C)
c.2680T>C (p.Cys894Arg)
c.1503+43T>C (n.1503+43T>C)
c.2550+43T>C (n.2550+43T>C)
 dbSNP
5g.132892121A>TCA360928094AFF4c.2637+43T>A (n.2637+43T>A)
c.2680T>A (p.Cys894Ser)
c.1503+43T>A (n.1503+43T>A)
c.2550+43T>A (n.2550+43T>A)
5g.132892122A>CCA2675252570AFF4c.2637+42T>G (n.2637+42T>G)
c.2679T>G (p.Thr893=)
c.1503+42T>G (n.1503+42T>G)
c.2550+42T>G (n.2550+42T>G)
 gnomAD v4
5g.132892123G>ACA360928097AFF4c.2637+41C>T (n.2637+41C>T)
c.2678C>T (p.Thr893Ile)
c.1503+41C>T (n.1503+41C>T)
c.2550+41C>T (n.2550+41C>T)
5g.132892123G>CCA360928099AFF4c.2637+41C>G (n.2637+41C>G)
c.2678C>G (p.Thr893Ser)
c.1503+41C>G (n.1503+41C>G)
c.2550+41C>G (n.2550+41C>G)
5g.132892123G>TCA360928101AFF4c.2637+41C>A (n.2637+41C>A)
c.2678C>A (p.Thr893Asn)
c.1503+41C>A (n.1503+41C>A)
c.2550+41C>A (n.2550+41C>A)
5g.132892124T>ACA360928103AFF4c.2637+40A>T (n.2637+40A>T)
c.2677A>T (p.Thr893Ser)
c.1503+40A>T (n.1503+40A>T)
c.2550+40A>T (n.2550+40A>T)
5g.132892124T>CCA3408883AFF4c.2637+40A>G (n.2637+40A>G)
c.2677A>G (p.Thr893Ala)
c.1503+40A>G (n.1503+40A>G)
c.2550+40A>G (n.2550+40A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892124T>GCA3408884AFF4c.2637+40A>C (n.2637+40A>C)
c.2677A>C (p.Thr893Pro)
c.1503+40A>C (n.1503+40A>C)
c.2550+40A>C (n.2550+40A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.132892124T=CA1583372434AFF4c.2637+40A= (n.2637+40A=)
c.2677A= (p.Thr893=)
c.1503+40A= (n.1503+40A=)
c.2550+40A= (n.2550+40A=)
5g.132892125T>CCA563058195AFF4c.2637+39A>G (n.2637+39A>G)
c.2676A>G (p.Ser892=)
c.1503+39A>G (n.1503+39A>G)
c.2550+39A>G (n.2550+39A>G)
 dbSNP gnomAD v2 gnomAD v4
5g.132892125T=CA1583372435AFF4c.2637+39A= (n.2637+39A=)
c.2676A= (p.Ser892=)
c.1503+39A= (n.1503+39A=)
c.2550+39A= (n.2550+39A=)
5g.132892126G>ACA127270011AFF4c.2637+38C>T (n.2637+38C>T)
c.2675C>T (p.Ser892Leu)
c.1503+38C>T (n.1503+38C>T)
c.2550+38C>T (n.2550+38C>T)
 dbSNP gnomAD v3 gnomAD v4
5g.132892126G>CCA360928111AFF4c.2637+38C>G (n.2637+38C>G)
c.2675C>G (p.Ser892Ter)
c.1503+38C>G (n.1503+38C>G)
c.2550+38C>G (n.2550+38C>G)
5g.132892126G=CA1583372436AFF4c.2637+38C= (n.2637+38C=)
c.2675C= (p.Ser892=)
c.1503+38C= (n.1503+38C=)
c.2550+38C= (n.2550+38C=)
5g.132892126G>TCA360928114AFF4c.2637+38C>A (n.2637+38C>A)
c.2675C>A (p.Ser892Ter)
c.1503+38C>A (n.1503+38C>A)
c.2550+38C>A (n.2550+38C>A)
5g.132892127A=CA1583372437AFF4c.2637+37T= (n.2637+37T=)
c.2674T= (p.Ser892=)
c.1503+37T= (n.1503+37T=)
c.2550+37T= (n.2550+37T=)
5g.132892127A>CCA360928117AFF4c.2637+37T>G (n.2637+37T>G)
c.2674T>G (p.Ser892Ala)
c.1503+37T>G (n.1503+37T>G)
c.2550+37T>G (n.2550+37T>G)
5g.132892127A>GCA360928119AFF4c.2637+37T>C (n.2637+37T>C)
c.2674T>C (p.Ser892Pro)
c.1503+37T>C (n.1503+37T>C)
c.2550+37T>C (n.2550+37T>C)
 dbSNP
5g.132892127A>TCA360928120AFF4c.2637+37T>A (n.2637+37T>A)
c.2674T>A (p.Ser892Thr)
c.1503+37T>A (n.1503+37T>A)
c.2550+37T>A (n.2550+37T>A)
 dbSNP gnomAD v2 gnomAD v4
5g.132892128A>CCA360928121AFF4c.2637+36T>G (n.2637+36T>G)
c.2673T>G (p.His891Gln)
c.1503+36T>G (n.1503+36T>G)
c.2550+36T>G (n.2550+36T>G)
5g.132892128A>GCA2710360207AFF4c.2637+36T>C (n.2637+36T>C)
c.2673T>C (p.His891=)
c.1503+36T>C (n.1503+36T>C)
c.2550+36T>C (n.2550+36T>C)
 dbSNP
5g.132892128A>TCA360928122AFF4c.2637+36T>A (n.2637+36T>A)
c.2673T>A (p.His891Gln)
c.1503+36T>A (n.1503+36T>A)
c.2550+36T>A (n.2550+36T>A)
5g.132892129T>ACA360928125AFF4c.2637+35A>T (n.2637+35A>T)
c.2672A>T (p.His891Leu)
c.1503+35A>T (n.1503+35A>T)
c.2550+35A>T (n.2550+35A>T)
5g.132892129T>CCA360928126AFF4c.2637+35A>G (n.2637+35A>G)
c.2672A>G (p.His891Arg)
c.1503+35A>G (n.1503+35A>G)
c.2550+35A>G (n.2550+35A>G)
5g.132892129T>GCA360928127AFF4c.2637+35A>C (n.2637+35A>C)
c.2672A>C (p.His891Pro)
c.1503+35A>C (n.1503+35A>C)
c.2550+35A>C (n.2550+35A>C)
 gnomAD v4
5g.132892130G>ACA360928136AFF4c.2637+34C>T (n.2637+34C>T)
c.2671C>T (p.His891Tyr)
c.1503+34C>T (n.1503+34C>T)
c.2550+34C>T (n.2550+34C>T)
 gnomAD v4
5g.132892130G>CCA360928139AFF4c.2637+34C>G (n.2637+34C>G)
c.2671C>G (p.His891Asp)
c.1503+34C>G (n.1503+34C>G)
c.2550+34C>G (n.2550+34C>G)
5g.132892130G>TCA360928129AFF4c.2637+34C>A (n.2637+34C>A)
c.2671C>A (p.His891Asn)
c.1503+34C>A (n.1503+34C>A)
c.2550+34C>A (n.2550+34C>A)
5g.132892131A>CCA360928141AFF4c.2637+33T>G (n.2637+33T>G)
c.2670T>G (p.Asn890Lys)
c.1503+33T>G (n.1503+33T>G)
c.2550+33T>G (n.2550+33T>G)
5g.132892131A>TCA360928143AFF4c.2637+33T>A (n.2637+33T>A)
c.2670T>A (p.Asn890Lys)
c.1503+33T>A (n.1503+33T>A)
c.2550+33T>A (n.2550+33T>A)
5g.132892132T>ACA360928146AFF4c.2637+32A>T (n.2637+32A>T)
c.2669A>T (p.Asn890Ile)
c.1503+32A>T (n.1503+32A>T)
c.2550+32A>T (n.2550+32A>T)
5g.132892132T>CCA3408885AFF4c.2637+32A>G (n.2637+32A>G)
c.2669A>G (p.Asn890Ser)
c.1503+32A>G (n.1503+32A>G)
c.2550+32A>G (n.2550+32A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892132T>GCA360928148AFF4c.2637+32A>C (n.2637+32A>C)
c.2669A>C (p.Asn890Thr)
c.1503+32A>C (n.1503+32A>C)
c.2550+32A>C (n.2550+32A>C)
5g.132892132T=CA1583372438AFF4c.2637+32A= (n.2637+32A=)
c.2669A= (p.Asn890=)
c.1503+32A= (n.1503+32A=)
c.2550+32A= (n.2550+32A=)
5g.132892133T>ACA360928151AFF4c.2637+31A>T (n.2637+31A>T)
c.2668A>T (p.Asn890Tyr)
c.1503+31A>T (n.1503+31A>T)
c.2550+31A>T (n.2550+31A>T)
5g.132892133T>CCA360928155AFF4c.2637+31A>G (n.2637+31A>G)
c.2668A>G (p.Asn890Asp)
c.1503+31A>G (n.1503+31A>G)
c.2550+31A>G (n.2550+31A>G)
5g.132892133T>GCA360928156AFF4c.2637+31A>C (n.2637+31A>C)
c.2668A>C (p.Asn890His)
c.1503+31A>C (n.1503+31A>C)
c.2550+31A>C (n.2550+31A>C)
5g.132892134T>ACA360928157AFF4c.2637+30A>T (n.2637+30A>T)
c.2667A>T (p.Glu889Asp)
c.1503+30A>T (n.1503+30A>T)
c.2550+30A>T (n.2550+30A>T)
5g.132892134T>GCA3408886AFF4c.2637+30A>C (n.2637+30A>C)
c.2667A>C (p.Glu889Asp)
c.1503+30A>C (n.1503+30A>C)
c.2550+30A>C (n.2550+30A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892134T=CA1583372439AFF4c.2637+30A= (n.2637+30A=)
c.2667A= (p.Glu889=)
c.1503+30A= (n.1503+30A=)
c.2550+30A= (n.2550+30A=)
5g.132892135T>ACA360928160AFF4c.2637+29A>T (n.2637+29A>T)
c.2666A>T (p.Glu889Val)
c.1503+29A>T (n.1503+29A>T)
c.2550+29A>T (n.2550+29A>T)
5g.132892135T>CCA360928161AFF4c.2637+29A>G (n.2637+29A>G)
c.2666A>G (p.Glu889Gly)
c.1503+29A>G (n.1503+29A>G)
c.2550+29A>G (n.2550+29A>G)
5g.132892135T>GCA360928162AFF4c.2637+29A>C (n.2637+29A>C)
c.2666A>C (p.Glu889Ala)
c.1503+29A>C (n.1503+29A>C)
c.2550+29A>C (n.2550+29A>C)
5g.132892136C>ACA360928165AFF4c.2637+28G>T (n.2637+28G>T)
c.2665G>T (p.Glu889Ter)
c.1503+28G>T (n.1503+28G>T)
c.2550+28G>T (n.2550+28G>T)
 gnomAD v4
5g.132892136C>GCA360928164AFF4c.2637+28G>C (n.2637+28G>C)
c.2665G>C (p.Glu889Gln)
c.1503+28G>C (n.1503+28G>C)
c.2550+28G>C (n.2550+28G>C)
5g.132892136C>TCA360928163AFF4c.2637+28G>A (n.2637+28G>A)
c.2665G>A (p.Glu889Lys)
c.1503+28G>A (n.1503+28G>A)
c.2550+28G>A (n.2550+28G>A)
5g.132892136_132892137delinsCACA1583372440AFF4c.2637+27_2637+28delinsTG (n.2637+27_2637+28delinsTG)
c.2664_2665delinsTG (p.Phe888=)
c.1503+27_1503+28delinsTG (n.1503+27_1503+28delinsTG)
c.2550+27_2550+28delinsTG (n.2550+27_2550+28delinsTG)
5g.132892137A>CCA360928166AFF4c.2637+27T>G (n.2637+27T>G)
c.2664T>G (p.Phe888Leu)
c.1503+27T>G (n.1503+27T>G)
c.2550+27T>G (n.2550+27T>G)
5g.132892137A>TCA360928167AFF4c.2637+27T>A (n.2637+27T>A)
c.2664T>A (p.Phe888Leu)
c.1503+27T>A (n.1503+27T>A)
c.2550+27T>A (n.2550+27T>A)
5g.132892140delCA3408887AFF4c.2637+27del (n.2637+27del)
c.2664del (p.Phe888LeufsTer9)
c.1503+27del (n.1503+27del)
c.2550+27del (n.2550+27del)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.132892138A>CCA360928172AFF4c.2637+26T>G (n.2637+26T>G)
c.2663T>G (p.Phe888Cys)
c.1503+26T>G (n.1503+26T>G)
c.2550+26T>G (n.2550+26T>G)
5g.132892138A>GCA360928174AFF4c.2637+26T>C (n.2637+26T>C)
c.2663T>C (p.Phe888Ser)
c.1503+26T>C (n.1503+26T>C)
c.2550+26T>C (n.2550+26T>C)
5g.132892138A>TCA360928176AFF4c.2637+26T>A (n.2637+26T>A)
c.2663T>A (p.Phe888Tyr)
c.1503+26T>A (n.1503+26T>A)
c.2550+26T>A (n.2550+26T>A)
5g.132892139A>CCA360928177AFF4c.2637+25T>G (n.2637+25T>G)
c.2662T>G (p.Phe888Val)
c.1503+25T>G (n.1503+25T>G)
c.2550+25T>G (n.2550+25T>G)
5g.132892139A>GCA360928179AFF4c.2637+25T>C (n.2637+25T>C)
c.2662T>C (p.Phe888Leu)
c.1503+25T>C (n.1503+25T>C)
c.2550+25T>C (n.2550+25T>C)
5g.132892139A>TCA360928181AFF4c.2637+25T>A (n.2637+25T>A)
c.2662T>A (p.Phe888Ile)
c.1503+25T>A (n.1503+25T>A)
c.2550+25T>A (n.2550+25T>A)
5g.132892141G>ACA360928182AFF4c.2637+23C>T (n.2637+23C>T)
c.2660C>T (p.Ala887Val)
c.1503+23C>T (n.1503+23C>T)
c.2550+23C>T (n.2550+23C>T)
5g.132892141G>CCA360928183AFF4c.2637+23C>G (n.2637+23C>G)
c.2660C>G (p.Ala887Gly)
c.1503+23C>G (n.1503+23C>G)
c.2550+23C>G (n.2550+23C>G)
5g.132892141G>TCA360928186AFF4c.2637+23C>A (n.2637+23C>A)
c.2660C>A (p.Ala887Asp)
c.1503+23C>A (n.1503+23C>A)
c.2550+23C>A (n.2550+23C>A)
 gnomAD v4
5g.132892142C>ACA360928191AFF4c.2637+22G>T (n.2637+22G>T)
c.2659G>T (p.Ala887Ser)
c.1503+22G>T (n.1503+22G>T)
c.2550+22G>T (n.2550+22G>T)
5g.132892142C>GCA360928190AFF4c.2637+22G>C (n.2637+22G>C)
c.2659G>C (p.Ala887Pro)
c.1503+22G>C (n.1503+22G>C)
c.2550+22G>C (n.2550+22G>C)
5g.132892142C>TCA360928189AFF4c.2637+22G>A (n.2637+22G>A)
c.2659G>A (p.Ala887Thr)
c.1503+22G>A (n.1503+22G>A)
c.2550+22G>A (n.2550+22G>A)
5g.132892143C=CA1583372441AFF4c.2637+21G= (n.2637+21G=)
c.2658G= (p.Gly886=)
c.1503+21G= (n.1503+21G=)
c.2550+21G= (n.2550+21G=)
5g.132892143C>TCA563058196AFF4c.2637+21G>A (n.2637+21G>A)
c.2658G>A (p.Gly886=)
c.1503+21G>A (n.1503+21G>A)
c.2550+21G>A (n.2550+21G>A)
 dbSNP gnomAD v2 gnomAD v4
5g.132892144C>ACA360928192AFF4c.2637+20G>T (n.2637+20G>T)
c.2657G>T (p.Gly886Val)
c.1503+20G>T (n.1503+20G>T)
c.2550+20G>T (n.2550+20G>T)
5g.132892144C=CA1583372442AFF4c.2637+20G= (n.2637+20G=)
c.2657G= (p.Gly886=)
c.1503+20G= (n.1503+20G=)
c.2550+20G= (n.2550+20G=)
5g.132892144C>GCA360928194AFF4c.2637+20G>C (n.2637+20G>C)
c.2657G>C (p.Gly886Ala)
c.1503+20G>C (n.1503+20G>C)
c.2550+20G>C (n.2550+20G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.132892144C>TCA360928193AFF4c.2637+20G>A (n.2637+20G>A)
c.2657G>A (p.Gly886Glu)
c.1503+20G>A (n.1503+20G>A)
c.2550+20G>A (n.2550+20G>A)
 ClinVar
5g.132892145C>ACA360928195AFF4c.2637+19G>T (n.2637+19G>T)
c.2656G>T (p.Gly886Trp)
c.1503+19G>T (n.1503+19G>T)
c.2550+19G>T (n.2550+19G>T)
5g.132892145C>GCA360928197AFF4c.2637+19G>C (n.2637+19G>C)
c.2656G>C (p.Gly886Arg)
c.1503+19G>C (n.1503+19G>C)
c.2550+19G>C (n.2550+19G>C)
5g.132892145C>TCA360928196AFF4c.2637+19G>A (n.2637+19G>A)
c.2656G>A (p.Gly886Arg)
c.1503+19G>A (n.1503+19G>A)
c.2550+19G>A (n.2550+19G>A)
5g.132892147G>ACA360928198AFF4c.2637+17C>T (n.2637+17C>T)
c.2654C>T (p.Pro885Leu)
c.1503+17C>T (n.1503+17C>T)
c.2550+17C>T (n.2550+17C>T)
5g.132892147G>CCA360928200AFF4c.2637+17C>G (n.2637+17C>G)
c.2654C>G (p.Pro885Arg)
c.1503+17C>G (n.1503+17C>G)
c.2550+17C>G (n.2550+17C>G)
5g.132892147G>TCA360928199AFF4c.2637+17C>A (n.2637+17C>A)
c.2654C>A (p.Pro885His)
c.1503+17C>A (n.1503+17C>A)
c.2550+17C>A (n.2550+17C>A)
5g.132892148G>ACA360928202AFF4c.2637+16C>T (n.2637+16C>T)
c.2653C>T (p.Pro885Ser)
c.1503+16C>T (n.1503+16C>T)
c.2550+16C>T (n.2550+16C>T)
 gnomAD v4
5g.132892148G>CCA360928206AFF4c.2637+16C>G (n.2637+16C>G)
c.2653C>G (p.Pro885Ala)
c.1503+16C>G (n.1503+16C>G)
c.2550+16C>G (n.2550+16C>G)
5g.132892148G>TCA360928204AFF4c.2637+16C>A (n.2637+16C>A)
c.2653C>A (p.Pro885Thr)
c.1503+16C>A (n.1503+16C>A)
c.2550+16C>A (n.2550+16C>A)
5g.132892148_132892149delinsGCCA1583372443AFF4c.2637+15_2637+16delinsGC (n.2637+15_2637+16delinsGC)
c.2652_2653delinsGC (p.Gly884=)
c.1503+15_1503+16delinsGC (n.1503+15_1503+16delinsGC)
c.2550+15_2550+16delinsGC (n.2550+15_2550+16delinsGC)
5g.132892149C>TCA2675252571AFF4c.2637+15G>A (n.2637+15G>A)
c.2652G>A (p.Gly884=)
c.1503+15G>A (n.1503+15G>A)
c.2550+15G>A (n.2550+15G>A)
 gnomAD v4
5g.132892153delCA3408888AFF4c.2637+15del (n.2637+15del)
c.2652del (p.Pro885LeufsTer12)
c.1503+15del (n.1503+15del)
c.2550+15del (n.2550+15del)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.132892150C>ACA360928207AFF4c.2637+14G>T (n.2637+14G>T)
c.2651G>T (p.Gly884Val)
c.1503+14G>T (n.1503+14G>T)
c.2550+14G>T (n.2550+14G>T)
5g.132892150C=CA1583372444AFF4c.2637+14G= (n.2637+14G=)
c.2651G= (p.Gly884=)
c.1503+14G= (n.1503+14G=)
c.2550+14G= (n.2550+14G=)
5g.132892150C>GCA360928208AFF4c.2637+14G>C (n.2637+14G>C)
c.2651G>C (p.Gly884Ala)
c.1503+14G>C (n.1503+14G>C)
c.2550+14G>C (n.2550+14G>C)
5g.132892150C>TCA360928209AFF4c.2637+14G>A (n.2637+14G>A)
c.2651G>A (p.Gly884Glu)
c.1503+14G>A (n.1503+14G>A)
c.2550+14G>A (n.2550+14G>A)
 dbSNP gnomAD v4
5g.132892151C>ACA360928210AFF4c.2637+13G>T (n.2637+13G>T)
c.2650G>T (p.Gly884Trp)
c.1503+13G>T (n.1503+13G>T)
c.2550+13G>T (n.2550+13G>T)
5g.132892151C=CA1583372445AFF4c.2637+13G= (n.2637+13G=)
c.2650G= (p.Gly884=)
c.1503+13G= (n.1503+13G=)
c.2550+13G= (n.2550+13G=)
5g.132892151C>GCA360928211AFF4c.2637+13G>C (n.2637+13G>C)
c.2650G>C (p.Gly884Arg)
c.1503+13G>C (n.1503+13G>C)
c.2550+13G>C (n.2550+13G>C)
5g.132892151C>TCA127270027AFF4c.2637+13G>A (n.2637+13G>A)
c.2650G>A (p.Gly884Arg)
c.1503+13G>A (n.1503+13G>A)
c.2550+13G>A (n.2550+13G>A)
 dbSNP
5g.132892152C>ACA360928215AFF4c.2637+12G>T (n.2637+12G>T)
c.2649G>T (p.Trp883Cys)
c.1503+12G>T (n.1503+12G>T)
c.2550+12G>T (n.2550+12G>T)
5g.132892152C>GCA360928222AFF4c.2637+12G>C (n.2637+12G>C)
c.2649G>C (p.Trp883Cys)
c.1503+12G>C (n.1503+12G>C)
c.2550+12G>C (n.2550+12G>C)
5g.132892152C>TCA360928224AFF4c.2637+12G>A (n.2637+12G>A)
c.2649G>A (p.Trp883Ter)
c.1503+12G>A (n.1503+12G>A)
c.2550+12G>A (n.2550+12G>A)
5g.132892153C>ACA360928231AFF4c.2637+11G>T (n.2637+11G>T)
c.2648G>T (p.Trp883Leu)
c.1503+11G>T (n.1503+11G>T)
c.2550+11G>T (n.2550+11G>T)
5g.132892153C>GCA360928229AFF4c.2637+11G>C (n.2637+11G>C)
c.2648G>C (p.Trp883Ser)
c.1503+11G>C (n.1503+11G>C)
c.2550+11G>C (n.2550+11G>C)
 gnomAD v4
5g.132892153C>TCA360928227AFF4c.2637+11G>A (n.2637+11G>A)
c.2648G>A (p.Trp883Ter)
c.1503+11G>A (n.1503+11G>A)
c.2550+11G>A (n.2550+11G>A)
 gnomAD v4
5g.132892154A>CCA360928233AFF4c.2637+10T>G (n.2637+10T>G)
c.2647T>G (p.Trp883Gly)
c.1503+10T>G (n.1503+10T>G)
c.2550+10T>G (n.2550+10T>G)
5g.132892154A>GCA360928235AFF4c.2637+10T>C (n.2637+10T>C)
c.2647T>C (p.Trp883Arg)
c.1503+10T>C (n.1503+10T>C)
c.2550+10T>C (n.2550+10T>C)
5g.132892154A>TCA360928236AFF4c.2637+10T>A (n.2637+10T>A)
c.2647T>A (p.Trp883Arg)
c.1503+10T>A (n.1503+10T>A)
c.2550+10T>A (n.2550+10T>A)
5g.132892155A=CA1583372446AFF4c.2637+9T= (n.2637+9T=)
c.2646T= (p.Cys882=)
c.1503+9T= (n.1503+9T=)
c.2550+9T= (n.2550+9T=)
5g.132892155A>CCA360928238AFF4c.2637+9T>G (n.2637+9T>G)
c.2646T>G (p.Cys882Trp)
c.1503+9T>G (n.1503+9T>G)
c.2550+9T>G (n.2550+9T>G)
5g.132892155A>GCA3408889AFF4c.2637+9T>C (n.2637+9T>C)
c.2646T>C (p.Cys882=)
c.1503+9T>C (n.1503+9T>C)
c.2550+9T>C (n.2550+9T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892155A>TCA360928241AFF4c.2637+9T>A (n.2637+9T>A)
c.2646T>A (p.Cys882Ter)
c.1503+9T>A (n.1503+9T>A)
c.2550+9T>A (n.2550+9T>A)
5g.132892156C>ACA360928244AFF4c.2637+8G>T (n.2637+8G>T)
c.2645G>T (p.Cys882Phe)
c.1503+8G>T (n.1503+8G>T)
c.2550+8G>T (n.2550+8G>T)
 ClinVar
5g.132892156C=CA1583372447AFF4c.2637+8G= (n.2637+8G=)
c.2645G= (p.Cys882=)
c.1503+8G= (n.1503+8G=)
c.2550+8G= (n.2550+8G=)
5g.132892156C>GCA360928246AFF4c.2637+8G>C (n.2637+8G>C)
c.2645G>C (p.Cys882Ser)
c.1503+8G>C (n.1503+8G>C)
c.2550+8G>C (n.2550+8G>C)
5g.132892156C>TCA3408890AFF4c.2637+8G>A (n.2637+8G>A)
c.2645G>A (p.Cys882Tyr)
c.1503+8G>A (n.1503+8G>A)
c.2550+8G>A (n.2550+8G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892157A=CA1583372448AFF4c.2637+7T= (n.2637+7T=)
c.2644T= (p.Cys882=)
c.1503+7T= (n.1503+7T=)
c.2550+7T= (n.2550+7T=)
5g.132892157A>CCA3408891AFF4c.2637+7T>G (n.2637+7T>G)
c.2644T>G (p.Cys882Gly)
c.1503+7T>G (n.1503+7T>G)
c.2550+7T>G (n.2550+7T>G)
 dbSNP ExAC gnomAD v2
5g.132892157A>GCA360928250AFF4c.2637+7T>C (n.2637+7T>C)
c.2644T>C (p.Cys882Arg)
c.1503+7T>C (n.1503+7T>C)
c.2550+7T>C (n.2550+7T>C)
5g.132892157A>TCA360928252AFF4c.2637+7T>A (n.2637+7T>A)
c.2644T>A (p.Cys882Ser)
c.1503+7T>A (n.1503+7T>A)
c.2550+7T>A (n.2550+7T>A)
5g.132892158C>ACA360928254AFF4c.2637+6G>T (n.2637+6G>T)
c.2643G>T (p.Lys881Asn)
c.1503+6G>T (n.1503+6G>T)
c.2550+6G>T (n.2550+6G>T)
5g.132892158C>GCA360928256AFF4c.2637+6G>C (n.2637+6G>C)
c.2643G>C (p.Lys881Asn)
c.1503+6G>C (n.1503+6G>C)
c.2550+6G>C (n.2550+6G>C)
5g.132892159T>ACA360928258AFF4c.2637+5A>T (n.2637+5A>T)
c.2642A>T (p.Lys881Met)
c.1503+5A>T (n.1503+5A>T)
c.2550+5A>T (n.2550+5A>T)
5g.132892159T>CCA360928259AFF4c.2637+5A>G (n.2637+5A>G)
c.2642A>G (p.Lys881Arg)
c.1503+5A>G (n.1503+5A>G)
c.2550+5A>G (n.2550+5A>G)
5g.132892159T>GCA360928260AFF4c.2637+5A>C (n.2637+5A>C)
c.2642A>C (p.Lys881Thr)
c.1503+5A>C (n.1503+5A>C)
c.2550+5A>C (n.2550+5A>C)
5g.132892160_132892161delCA2675252572AFF4c.2637+4_2637+5del (n.2637+4_2637+5del)
c.2641_2642del (p.Lys881ValfsTer8)
c.1503+4_1503+5del (n.1503+4_1503+5del)
c.2550+4_2550+5del (n.2550+4_2550+5del)
 gnomAD v4
5g.132892160T>ACA360928263AFF4c.2637+4A>T (n.2637+4A>T)
c.2641A>T (p.Lys881Ter)
c.1503+4A>T (n.1503+4A>T)
c.2550+4A>T (n.2550+4A>T)
5g.132892160T>CCA360928270AFF4c.2637+4A>G (n.2637+4A>G)
c.2641A>G (p.Lys881Glu)
c.1503+4A>G (n.1503+4A>G)
c.2550+4A>G (n.2550+4A>G)
 gnomAD v4
5g.132892160T>GCA360928272AFF4c.2637+4A>C (n.2637+4A>C)
c.2641A>C (p.Lys881Gln)
c.1503+4A>C (n.1503+4A>C)
c.2550+4A>C (n.2550+4A>C)
5g.132892160_132892161insCAAACA645566243AFF4c.2637+3_2637+4insTTTG (n.2637+3_2637+4insTTTG)
c.2640_2641insTTTG (p.Lys881PhefsTer10)
c.1503+3_1503+4insTTTG (n.1503+3_1503+4insTTTG)
c.2550+3_2550+4insTTTG (n.2550+3_2550+4insTTTG)
 COSMIC
5g.132892161T>CCA1583372450AFF4c.2637+3A>G (n.2637+3A>G)
c.2640A>G (p.Val880=)
c.1503+3A>G (n.1503+3A>G)
c.2550+3A>G (n.2550+3A>G)
 dbSNP
5g.132892161T=CA1583372449AFF4c.2637+3A= (n.2637+3A=)
c.2640A= (p.Val880=)
c.1503+3A= (n.1503+3A=)
c.2550+3A= (n.2550+3A=)
5g.132892162A>CCA360928274AFF4c.2637+2T>G (n.2637+2T>G)
c.2639T>G (p.Val880Gly)
c.1503+2T>G (n.1503+2T>G)
c.2550+2T>G (n.2550+2T>G)
5g.132892162A>GCA360928275AFF4c.2637+2T>C (n.2637+2T>C)
c.2639T>C (p.Val880Ala)
c.1503+2T>C (n.1503+2T>C)
c.2550+2T>C (n.2550+2T>C)
5g.132892162A>TCA360928277AFF4c.2637+2T>A (n.2637+2T>A)
c.2639T>A (p.Val880Glu)
c.1503+2T>A (n.1503+2T>A)
c.2550+2T>A (n.2550+2T>A)
5g.132892163C>ACA360928279AFF4c.2637+1G>T (n.2637+1G>T)
c.2638G>T (p.Val880Leu)
c.1503+1G>T (n.1503+1G>T)
c.2550+1G>T (n.2550+1G>T)
5g.132892163C=CA1583372451AFF4c.2637+1G= (n.2637+1G=)
c.2638G= (p.Val880=)
c.1503+1G= (n.1503+1G=)
c.2550+1G= (n.2550+1G=)
5g.132892163C>GCA360928282AFF4c.2637+1G>C (n.2637+1G>C)
c.2638G>C (p.Val880Leu)
c.1503+1G>C (n.1503+1G>C)
c.2550+1G>C (n.2550+1G>C)
5g.132892163C>TCA360928287AFF4c.2637+1G>A (n.2637+1G>A)
c.2638G>A (p.Val880Ile)
c.1503+1G>A (n.1503+1G>A)
c.2550+1G>A (n.2550+1G>A)
 dbSNP gnomAD v2 gnomAD v4
5g.132892163_132892166delCA645566244AFF4c.2635_2637+1del
c.2635_2638del (p.Lys879Ter)
c.1501_1503+1del
c.2548_2550+1del
 COSMIC
5g.132892164C>ACA360928290AFF4c.2637G>T (p.Lys879Asn)
c.1503G>T (p.Lys501Asn)
c.2550G>T (p.Lys850Asn)
5g.132892164C>GCA360928289AFF4c.2637G>C (p.Lys879Asn)
c.1503G>C (p.Lys501Asn)
c.2550G>C (p.Lys850Asn)
5g.132892164C>TCA446498791AFF4c.2637G>A (p.Lys879=)
c.1503G>A (p.Lys501=)
c.2550G>A (p.Lys850=)
5g.132892165T>ACA360928292AFF4c.2636A>T (p.Lys879Met)
c.1502A>T (p.Lys501Met)
c.2549A>T (p.Lys850Met)
5g.132892165T>CCA360928294AFF4c.2636A>G (p.Lys879Arg)
c.1502A>G (p.Lys501Arg)
c.2549A>G (p.Lys850Arg)
5g.132892165T>GCA360928296AFF4c.2636A>C (p.Lys879Thr)
c.1502A>C (p.Lys501Thr)
c.2549A>C (p.Lys850Thr)
5g.132892166T>ACA360928298AFF4c.2635A>T (p.Lys879Ter)
c.1501A>T (p.Lys501Ter)
c.2548A>T (p.Lys850Ter)
5g.132892166T>CCA360928300AFF4c.2635A>G (p.Lys879Glu)
c.1501A>G (p.Lys501Glu)
c.2548A>G (p.Lys850Glu)
5g.132892166T>GCA360928301AFF4c.2635A>C (p.Lys879Gln)
c.1501A>C (p.Lys501Gln)
c.2548A>C (p.Lys850Gln)
5g.132892167A>CCA446498795AFF4c.2634T>G (p.Val878=)
c.1500T>G (p.Val500=)
c.2547T>G (p.Val849=)
5g.132892167A>GCA446498796AFF4c.2634T>C (p.Val878=)
c.1500T>C (p.Val500=)
c.2547T>C (p.Val849=)
5g.132892167A>TCA446498798AFF4c.2634T>A (p.Val878=)
c.1500T>A (p.Val500=)
c.2547T>A (p.Val849=)
5g.132892168A>CCA360928302AFF4c.2633T>G (p.Val878Gly)
c.1499T>G (p.Val500Gly)
c.2546T>G (p.Val849Gly)
5g.132892168A>GCA360928303AFF4c.2633T>C (p.Val878Ala)
c.1499T>C (p.Val500Ala)
c.2546T>C (p.Val849Ala)
5g.132892168A>TCA360928305AFF4c.2633T>A (p.Val878Asp)
c.1499T>A (p.Val500Asp)
c.2546T>A (p.Val849Asp)
5g.132892169C>ACA360928307AFF4c.2632G>T (p.Val878Phe)
c.1498G>T (p.Val500Phe)
c.2545G>T (p.Val849Phe)
5g.132892169C>GCA360928309AFF4c.2632G>C (p.Val878Leu)
c.1498G>C (p.Val500Leu)
c.2545G>C (p.Val849Leu)
5g.132892169C>TCA360928310AFF4c.2632G>A (p.Val878Ile)
c.1498G>A (p.Val500Ile)
c.2545G>A (p.Val849Ile)
5g.132892170C>ACA360928314AFF4c.2631G>T (p.Glu877Asp)
c.1497G>T (p.Glu499Asp)
c.2544G>T (p.Glu848Asp)
5g.132892170C>GCA360928312AFF4c.2631G>C (p.Glu877Asp)
c.1497G>C (p.Glu499Asp)
c.2544G>C (p.Glu848Asp)
5g.132892170C>TCA446498800AFF4c.2631G>A (p.Glu877=)
c.1497G>A (p.Glu499=)
c.2544G>A (p.Glu848=)
5g.132892171T>ACA360928315AFF4c.2630A>T (p.Glu877Val)
c.1496A>T (p.Glu499Val)
c.2543A>T (p.Glu848Val)
5g.132892171T>CCA360928317AFF4c.2630A>G (p.Glu877Gly)
c.1496A>G (p.Glu499Gly)
c.2543A>G (p.Glu848Gly)
5g.132892171T>GCA360928316AFF4c.2630A>C (p.Glu877Ala)
c.1496A>C (p.Glu499Ala)
c.2543A>C (p.Glu848Ala)
5g.132892172C>ACA360928319AFF4c.2629G>T (p.Glu877Ter)
c.1495G>T (p.Glu499Ter)
c.2542G>T (p.Glu848Ter)
5g.132892172C>GCA360928321AFF4c.2629G>C (p.Glu877Gln)
c.1495G>C (p.Glu499Gln)
c.2542G>C (p.Glu848Gln)
5g.132892172C>TCA360928322AFF4c.2629G>A (p.Glu877Lys)
c.1495G>A (p.Glu499Lys)
c.2542G>A (p.Glu848Lys)
5g.132892173C>ACA360928324AFF4c.2628G>T (p.Lys876Asn)
c.1494G>T (p.Lys498Asn)
c.2541G>T (p.Lys847Asn)
5g.132892173C>GCA360928325AFF4c.2628G>C (p.Lys876Asn)
c.1494G>C (p.Lys498Asn)
c.2541G>C (p.Lys847Asn)
5g.132892173C>TCA446498804AFF4c.2628G>A (p.Lys876=)
c.1494G>A (p.Lys498=)
c.2541G>A (p.Lys847=)
5g.132892174T>ACA360928327AFF4c.2627A>T (p.Lys876Met)
c.1493A>T (p.Lys498Met)
c.2540A>T (p.Lys847Met)
 gnomAD v4
5g.132892174T>CCA360928329AFF4c.2627A>G (p.Lys876Arg)
c.1493A>G (p.Lys498Arg)
c.2540A>G (p.Lys847Arg)
 dbSNP gnomAD v4
5g.132892174T>GCA360928331AFF4c.2627A>C (p.Lys876Thr)
c.1493A>C (p.Lys498Thr)
c.2540A>C (p.Lys847Thr)
5g.132892174T=CA1583372452AFF4c.2627A= (p.Lys876=)
c.1493A= (p.Lys498=)
c.2540A= (p.Lys847=)
5g.132892175T>ACA360928333AFF4c.2626A>T (p.Lys876Ter)
c.1492A>T (p.Lys498Ter)
c.2539A>T (p.Lys847Ter)
5g.132892175T>CCA360928335AFF4c.2626A>G (p.Lys876Glu)
c.1492A>G (p.Lys498Glu)
c.2539A>G (p.Lys847Glu)
 gnomAD v4
5g.132892175T>GCA360928337AFF4c.2626A>C (p.Lys876Gln)
c.1492A>C (p.Lys498Gln)
c.2539A>C (p.Lys847Gln)
5g.132892176G>ACA446498805AFF4c.2625C>T (p.Ser875=)
c.1491C>T (p.Ser497=)
c.2538C>T (p.Ser846=)
5g.132892176G>CCA446498806AFF4c.2625C>G (p.Ser875=)
c.1491C>G (p.Ser497=)
c.2538C>G (p.Ser846=)
5g.132892176G>TCA446498808AFF4c.2625C>A (p.Ser875=)
c.1491C>A (p.Ser497=)
c.2538C>A (p.Ser846=)
5g.132892177G>ACA360928347AFF4c.2624C>T (p.Ser875Phe)
c.1490C>T (p.Ser497Phe)
c.2537C>T (p.Ser846Phe)
 ClinVar dbSNP
5g.132892177G>CCA360928343AFF4c.2624C>G (p.Ser875Cys)
c.1490C>G (p.Ser497Cys)
c.2537C>G (p.Ser846Cys)
 dbSNP
5g.132892177G=CA1583372453AFF4c.2624C= (p.Ser875=)
c.1490C= (p.Ser497=)
c.2537C= (p.Ser846=)
5g.132892177G>TCA360928345AFF4c.2624C>A (p.Ser875Tyr)
c.1490C>A (p.Ser497Tyr)
c.2537C>A (p.Ser846Tyr)
5g.132892178A=CA1583372454AFF4c.2623T= (p.Ser875=)
c.1489T= (p.Ser497=)
c.2536T= (p.Ser846=)
5g.132892178A>CCA127270034AFF4c.2623T>G (p.Ser875Ala)
c.1489T>G (p.Ser497Ala)
c.2536T>G (p.Ser846Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.132892178A>GCA360928349AFF4c.2623T>C (p.Ser875Pro)
c.1489T>C (p.Ser497Pro)
c.2536T>C (p.Ser846Pro)
5g.132892178A>TCA360928351AFF4c.2623T>A (p.Ser875Thr)
c.1489T>A (p.Ser497Thr)
c.2536T>A (p.Ser846Thr)
5g.132892179G>ACA446498810AFF4c.2622C>T (p.Ser874=)
c.1488C>T (p.Ser496=)
c.2535C>T (p.Ser845=)
5g.132892179G>CCA360928353AFF4c.2622C>G (p.Ser874Arg)
c.1488C>G (p.Ser496Arg)
c.2535C>G (p.Ser845Arg)
5g.132892179G>TCA360928354AFF4c.2622C>A (p.Ser874Arg)
c.1488C>A (p.Ser496Arg)
c.2535C>A (p.Ser845Arg)
5g.132892180C>ACA360928355AFF4c.2621G>T (p.Ser874Ile)
c.1487G>T (p.Ser496Ile)
c.2534G>T (p.Ser845Ile)
5g.132892180C>GCA360928356AFF4c.2621G>C (p.Ser874Thr)
c.1487G>C (p.Ser496Thr)
c.2534G>C (p.Ser845Thr)
5g.132892180C>TCA360928359AFF4c.2621G>A (p.Ser874Asn)
c.1487G>A (p.Ser496Asn)
c.2534G>A (p.Ser845Asn)
5g.132892182_132892184delCA2768446624AFF4c.2619_2621del (p.Ser874del)
c.1485_1487del (p.Ser496del)
c.2532_2534del (p.Ser845del)
5g.132892181T>ACA360928361AFF4c.2620A>T (p.Ser874Cys)
c.1486A>T (p.Ser496Cys)
c.2533A>T (p.Ser845Cys)
5g.132892181T>CCA360928363AFF4c.2620A>G (p.Ser874Gly)
c.1486A>G (p.Ser496Gly)
c.2533A>G (p.Ser845Gly)
5g.132892181T>GCA360928365AFF4c.2620A>C (p.Ser874Arg)
c.1486A>C (p.Ser496Arg)
c.2533A>C (p.Ser845Arg)
5g.132892182A>CCA360928370AFF4c.2619T>G (p.Ser873Arg)
c.1485T>G (p.Ser495Arg)
c.2532T>G (p.Ser844Arg)
5g.132892182A>GCA446498812AFF4c.2619T>C (p.Ser873=)
c.1485T>C (p.Ser495=)
c.2532T>C (p.Ser844=)
5g.132892182A>TCA360928369AFF4c.2619T>A (p.Ser873Arg)
c.1485T>A (p.Ser495Arg)
c.2532T>A (p.Ser844Arg)
5g.132892183C>ACA127270039AFF4c.2618G>T (p.Ser873Ile)
c.1484G>T (p.Ser495Ile)
c.2531G>T (p.Ser844Ile)
 dbSNP gnomAD v3 gnomAD v4
5g.132892183C=CA1583372455AFF4c.2618G= (p.Ser873=)
c.1484G= (p.Ser495=)
c.2531G= (p.Ser844=)
5g.132892183C>GCA360928374AFF4c.2618G>C (p.Ser873Thr)
c.1484G>C (p.Ser495Thr)
c.2531G>C (p.Ser844Thr)
5g.132892183C>TCA360928375AFF4c.2618G>A (p.Ser873Asn)
c.1484G>A (p.Ser495Asn)
c.2531G>A (p.Ser844Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.132892184T>ACA360928378AFF4c.2617A>T (p.Ser873Cys)
c.1483A>T (p.Ser495Cys)
c.2530A>T (p.Ser844Cys)
5g.132892184T>CCA3408892AFF4c.2617A>G (p.Ser873Gly)
c.1483A>G (p.Ser495Gly)
c.2530A>G (p.Ser844Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.132892184T>GCA360928381AFF4c.2617A>C (p.Ser873Arg)
c.1483A>C (p.Ser495Arg)
c.2530A>C (p.Ser844Arg)
5g.132892184T=CA1583372456AFF4c.2617A= (p.Ser873=)
c.1483A= (p.Ser495=)
c.2530A= (p.Ser844=)
5g.132892185G>ACA446498816AFF4c.2616C>T (p.Ser872=)
c.1482C>T (p.Ser494=)
c.2529C>T (p.Ser843=)
 dbSNP gnomAD v2 gnomAD v4
5g.132892185G>CCA446498817AFF4c.2616C>G (p.Ser872=)
c.1482C>G (p.Ser494=)
c.2529C>G (p.Ser843=)
5g.132892185G=CA1583372457AFF4c.2616C= (p.Ser872=)
c.1482C= (p.Ser494=)
c.2529C= (p.Ser843=)
5g.132892185G>TCA446498818AFF4c.2616C>A (p.Ser872=)
c.1482C>A (p.Ser494=)
c.2529C>A (p.Ser843=)
5g.132892186delCA2578462024AFF4c.2616del (p.Ser873ValfsTer?)
c.2616del (p.Ser873ValfsTer8)
c.1482del (p.Ser495ValfsTer?)
c.2529del (p.Ser844ValfsTer?)
5g.132892186G>ACA360928383AFF4c.2615C>T (p.Ser872Phe)
c.1481C>T (p.Ser494Phe)
c.2528C>T (p.Ser843Phe)
5g.132892186G>CCA360928384AFF4c.2615C>G (p.Ser872Cys)
c.1481C>G (p.Ser494Cys)
c.2528C>G (p.Ser843Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.132892186G=CA1583372458AFF4c.2615C= (p.Ser872=)
c.1481C= (p.Ser494=)
c.2528C= (p.Ser843=)
5g.132892186G>TCA360928386AFF4c.2615C>A (p.Ser872Tyr)
c.1481C>A (p.Ser494Tyr)
c.2528C>A (p.Ser843Tyr)
5g.132892187A>CCA360928388AFF4c.2614T>G (p.Ser872Ala)
c.1480T>G (p.Ser494Ala)
c.2527T>G (p.Ser843Ala)
5g.132892187A>GCA360928390AFF4c.2614T>C (p.Ser872Pro)
c.1480T>C (p.Ser494Pro)
c.2527T>C (p.Ser843Pro)
5g.132892187A>TCA360928392AFF4c.2614T>A (p.Ser872Thr)
c.1480T>A (p.Ser494Thr)
c.2527T>A (p.Ser843Thr)
5g.132892188A>CCA446498822AFF4c.2613T>G (p.Thr871=)
c.1479T>G (p.Thr493=)
c.2526T>G (p.Thr842=)
5g.132892188A>GCA446498823AFF4c.2613T>C (p.Thr871=)
c.1479T>C (p.Thr493=)
c.2526T>C (p.Thr842=)
5g.132892188A>TCA446498824AFF4c.2613T>A (p.Thr871=)
c.1479T>A (p.Thr493=)
c.2526T>A (p.Thr842=)
5g.132892189G>ACA360928395AFF4c.2612C>T (p.Thr871Ile)
c.1478C>T (p.Thr493Ile)
c.2525C>T (p.Thr842Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.132892189G>CCA360928396AFF4c.2612C>G (p.Thr871Ser)
c.1478C>G (p.Thr493Ser)
c.2525C>G (p.Thr842Ser)
 gnomAD v4
5g.132892189G=CA1583372459AFF4c.2612C= (p.Thr871=)
c.1478C= (p.Thr493=)
c.2525C= (p.Thr842=)
5g.132892189G>TCA360928394AFF4c.2612C>A (p.Thr871Asn)
c.1478C>A (p.Thr493Asn)
c.2525C>A (p.Thr842Asn)
5g.132892190T>ACA360928398AFF4c.2611A>T (p.Thr871Ser)
c.1477A>T (p.Thr493Ser)
c.2524A>T (p.Thr842Ser)
5g.132892190T>CCA360928400AFF4c.2611A>G (p.Thr871Ala)
c.1477A>G (p.Thr493Ala)
c.2524A>G (p.Thr842Ala)
5g.132892190T>GCA360928402AFF4c.2611A>C (p.Thr871Pro)
c.1477A>C (p.Thr493Pro)
c.2524A>C (p.Thr842Pro)
5g.132892191C>ACA360928404AFF4c.2610G>T (p.Lys870Asn)
c.1476G>T (p.Lys492Asn)
c.2523G>T (p.Lys841Asn)
5g.132892191C>GCA360928406AFF4c.2610G>C (p.Lys870Asn)
c.1476G>C (p.Lys492Asn)
c.2523G>C (p.Lys841Asn)
5g.132892191C>TCA446498826AFF4c.2610G>A (p.Lys870=)
c.1476G>A (p.Lys492=)
c.2523G>A (p.Lys841=)
5g.132892192T>ACA360928411AFF4c.2609A>T (p.Lys870Met)
c.1475A>T (p.Lys492Met)
c.2522A>T (p.Lys841Met)
5g.132892192T>CCA360928408AFF4c.2609A>G (p.Lys870Arg)
c.1475A>G (p.Lys492Arg)
c.2522A>G (p.Lys841Arg)
5g.132892192T>GCA360928410AFF4c.2609A>C (p.Lys870Thr)
c.1475A>C (p.Lys492Thr)
c.2522A>C (p.Lys841Thr)
5g.132892193T>ACA360928414AFF4c.2608A>T (p.Lys870Ter)
c.1474A>T (p.Lys492Ter)
c.2521A>T (p.Lys841Ter)
5g.132892193T>CCA360928415AFF4c.2608A>G (p.Lys870Glu)
c.1474A>G (p.Lys492Glu)
c.2521A>G (p.Lys841Glu)
 dbSNP gnomAD v3 gnomAD v4
5g.132892193T>GCA360928417AFF4c.2608A>C (p.Lys870Gln)
c.1474A>C (p.Lys492Gln)
c.2521A>C (p.Lys841Gln)
5g.132892193T=CA1583372460AFF4c.2608A= (p.Lys870=)
c.1474A= (p.Lys492=)
c.2521A= (p.Lys841=)
5g.132892194C>ACA446498827AFF4c.2607G>T (p.Gly869=)
c.1473G>T (p.Gly491=)
c.2520G>T (p.Gly840=)
5g.132892194C>GCA446498828AFF4c.2607G>C (p.Gly869=)
c.1473G>C (p.Gly491=)
c.2520G>C (p.Gly840=)
 gnomAD v4
5g.132892194C>TCA446498829AFF4c.2607G>A (p.Gly869=)
c.1473G>A (p.Gly491=)
c.2520G>A (p.Gly840=)
5g.132892195C>ACA360928419AFF4c.2606G>T (p.Gly869Val)
c.1472G>T (p.Gly491Val)
c.2519G>T (p.Gly840Val)
5g.132892195C=CA1583372461AFF4c.2606G= (p.Gly869=)
c.1472G= (p.Gly491=)
c.2519G= (p.Gly840=)
5g.132892195C>GCA360928421AFF4c.2606G>C (p.Gly869Ala)
c.1472G>C (p.Gly491Ala)
c.2519G>C (p.Gly840Ala)
5g.132892195C>TCA360928423AFF4c.2606G>A (p.Gly869Glu)
c.1472G>A (p.Gly491Glu)
c.2519G>A (p.Gly840Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.132892196C>ACA360928427AFF4c.2605G>T (p.Gly869Trp)
c.1471G>T (p.Gly491Trp)
c.2518G>T (p.Gly840Trp)
5g.132892196C>GCA360928429AFF4c.2605G>C (p.Gly869Arg)
c.1471G>C (p.Gly491Arg)
c.2518G>C (p.Gly840Arg)
5g.132892196C>TCA360928426AFF4c.2605G>A (p.Gly869Arg)
c.1471G>A (p.Gly491Arg)
c.2518G>A (p.Gly840Arg)
5g.132892197T>ACA360928433AFF4c.2604A>T (p.Glu868Asp)
c.1470A>T (p.Glu490Asp)
c.2517A>T (p.Glu839Asp)
5g.132892197T>CCA446498830AFF4c.2604A>G (p.Glu868=)
c.1470A>G (p.Glu490=)
c.2517A>G (p.Glu839=)
5g.132892197T>GCA360928431AFF4c.2604A>C (p.Glu868Asp)
c.1470A>C (p.Glu490Asp)
c.2517A>C (p.Glu839Asp)
 dbSNP gnomAD v3 gnomAD v4
5g.132892197T=CA1583372462AFF4c.2604A= (p.Glu868=)
c.1470A= (p.Glu490=)
c.2517A= (p.Glu839=)
5g.132892198T>ACA360928439AFF4c.2603A>T (p.Glu868Val)
c.1469A>T (p.Glu490Val)
c.2516A>T (p.Glu839Val)
5g.132892198T>CCA360928435AFF4c.2603A>G (p.Glu868Gly)
c.1469A>G (p.Glu490Gly)
c.2516A>G (p.Glu839Gly)
5g.132892198T>GCA360928437AFF4c.2603A>C (p.Glu868Ala)
c.1469A>C (p.Glu490Ala)
c.2516A>C (p.Glu839Ala)
 dbSNP gnomAD v4
5g.132892198T=CA1583372463AFF4c.2603A= (p.Glu868=)
c.1469A= (p.Glu490=)
c.2516A= (p.Glu839=)
5g.132892199delCA2675252573AFF4c.2602del (p.Glu868LysfsTer?)
c.2602del (p.Glu868LysfsTer13)
c.1468del (p.Glu490LysfsTer?)
c.2515del (p.Glu839LysfsTer?)
 gnomAD v4
5g.132892199C>ACA360928441AFF4c.2602G>T (p.Glu868Ter)
c.1468G>T (p.Glu490Ter)
c.2515G>T (p.Glu839Ter)
5g.132892199C=CA1583372464AFF4c.2602G= (p.Glu868=)
c.1468G= (p.Glu490=)
c.2515G= (p.Glu839=)
5g.132892199C>GCA360928443AFF4c.2602G>C (p.Glu868Gln)
c.1468G>C (p.Glu490Gln)
c.2515G>C (p.Glu839Gln)
 gnomAD v4
5g.132892199C>TCA127270040AFF4c.2602G>A (p.Glu868Lys)
c.1468G>A (p.Glu490Lys)
c.2515G>A (p.Glu839Lys)
 dbSNP gnomAD v3 gnomAD v4
5g.132892200G>ACA3408893AFF4c.2601C>T (p.Thr867=)
c.1467C>T (p.Thr489=)
c.2514C>T (p.Thr838=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892200G>CCA446498831AFF4c.2601C>G (p.Thr867=)
c.1467C>G (p.Thr489=)
c.2514C>G (p.Thr838=)
 dbSNP gnomAD v3 gnomAD v4
5g.132892200G=CA1583372465AFF4c.2601C= (p.Thr867=)
c.1467C= (p.Thr489=)
c.2514C= (p.Thr838=)
5g.132892200G>TCA446498832AFF4c.2601C>A (p.Thr867=)
c.1467C>A (p.Thr489=)
c.2514C>A (p.Thr838=)
 gnomAD v4
5g.132892201G>ACA360928450AFF4c.2600C>T (p.Thr867Ile)
c.1466C>T (p.Thr489Ile)
c.2513C>T (p.Thr838Ile)
5g.132892201G>CCA360928453AFF4c.2600C>G (p.Thr867Ser)
c.1466C>G (p.Thr489Ser)
c.2513C>G (p.Thr838Ser)
5g.132892201G=CA1583372466AFF4c.2600C= (p.Thr867=)
c.1466C= (p.Thr489=)
c.2513C= (p.Thr838=)
5g.132892201G>TCA3408895AFF4c.2600C>A (p.Thr867Asn)
c.1466C>A (p.Thr489Asn)
c.2513C>A (p.Thr838Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892201_132892204delinsGTCTCA1583372467AFF4c.2597_2600delinsAGAC (p.Lys866=)
c.1463_1466delinsAGAC (p.Lys488=)
c.2510_2513delinsAGAC (p.Lys837=)
5g.132892202T>ACA360928456AFF4c.2599A>T (p.Thr867Ser)
c.1465A>T (p.Thr489Ser)
c.2512A>T (p.Thr838Ser)
5g.132892202T>CCA360928457AFF4c.2599A>G (p.Thr867Ala)
c.1465A>G (p.Thr489Ala)
c.2512A>G (p.Thr838Ala)
5g.132892202T>GCA360928458AFF4c.2599A>C (p.Thr867Pro)
c.1465A>C (p.Thr489Pro)
c.2512A>C (p.Thr838Pro)
5g.132892208_132892210delCA3408894AFF4c.2597_2599del (p.Lys866del)
c.1463_1465del (p.Lys488del)
c.2510_2512del (p.Lys837del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892203C>ACA360928461AFF4c.2598G>T (p.Lys866Asn)
c.1464G>T (p.Lys488Asn)
c.2511G>T (p.Lys837Asn)
5g.132892203C=CA1583372468AFF4c.2598G= (p.Lys866=)
c.1464G= (p.Lys488=)
c.2511G= (p.Lys837=)
5g.132892203C>GCA360928462AFF4c.2598G>C (p.Lys866Asn)
c.1464G>C (p.Lys488Asn)
c.2511G>C (p.Lys837Asn)
5g.132892203C>TCA446498834AFF4c.2598G>A (p.Lys866=)
c.1464G>A (p.Lys488=)
c.2511G>A (p.Lys837=)
 dbSNP gnomAD v3 gnomAD v4
5g.132892204T>ACA360928465AFF4c.2597A>T (p.Lys866Met)
c.1463A>T (p.Lys488Met)
c.2510A>T (p.Lys837Met)
5g.132892204T>CCA360928467AFF4c.2597A>G (p.Lys866Arg)
c.1463A>G (p.Lys488Arg)
c.2510A>G (p.Lys837Arg)
5g.132892204T>GCA360928470AFF4c.2597A>C (p.Lys866Thr)
c.1463A>C (p.Lys488Thr)
c.2510A>C (p.Lys837Thr)
 dbSNP gnomAD v3 gnomAD v4
5g.132892204T=CA1583372469AFF4c.2597A= (p.Lys866=)
c.1463A= (p.Lys488=)
c.2510A= (p.Lys837=)
5g.132892205T>ACA360928472AFF4c.2596A>T (p.Lys866Ter)
c.1462A>T (p.Lys488Ter)
c.2509A>T (p.Lys837Ter)
5g.132892205T>CCA360928474AFF4c.2596A>G (p.Lys866Glu)
c.1462A>G (p.Lys488Glu)
c.2509A>G (p.Lys837Glu)
5g.132892205T>GCA360928475AFF4c.2596A>C (p.Lys866Gln)
c.1462A>C (p.Lys488Gln)
c.2509A>C (p.Lys837Gln)
5g.132892206C>ACA360928477AFF4c.2595G>T (p.Lys865Asn)
c.1461G>T (p.Lys487Asn)
c.2508G>T (p.Lys836Asn)
5g.132892206C=CA1583372470AFF4c.2595G= (p.Lys865=)
c.1461G= (p.Lys487=)
c.2508G= (p.Lys836=)
5g.132892206C>GCA3408896AFF4c.2595G>C (p.Lys865Asn)
c.1461G>C (p.Lys487Asn)
c.2508G>C (p.Lys836Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892206C>TCA446498836AFF4c.2595G>A (p.Lys865=)
c.1461G>A (p.Lys487=)
c.2508G>A (p.Lys836=)
5g.132892207T>ACA360928483AFF4c.2594A>T (p.Lys865Met)
c.1460A>T (p.Lys487Met)
c.2507A>T (p.Lys836Met)
5g.132892207T>CCA360928484AFF4c.2594A>G (p.Lys865Arg)
c.1460A>G (p.Lys487Arg)
c.2507A>G (p.Lys836Arg)
5g.132892207T>GCA360928486AFF4c.2594A>C (p.Lys865Thr)
c.1460A>C (p.Lys487Thr)
c.2507A>C (p.Lys836Thr)
5g.132892208T>ACA360928493AFF4c.2593A>T (p.Lys865Ter)
c.1459A>T (p.Lys487Ter)
c.2506A>T (p.Lys836Ter)
5g.132892208T>CCA360928490AFF4c.2593A>G (p.Lys865Glu)
c.1459A>G (p.Lys487Glu)
c.2506A>G (p.Lys836Glu)
5g.132892208T>GCA360928488AFF4c.2593A>C (p.Lys865Gln)
c.1459A>C (p.Lys487Gln)
c.2506A>C (p.Lys836Gln)
5g.132892209C>ACA360928495AFF4c.2592G>T (p.Gln864His)
c.1458G>T (p.Gln486His)
c.2505G>T (p.Gln835His)
5g.132892209C>GCA360928497AFF4c.2592G>C (p.Gln864His)
c.1458G>C (p.Gln486His)
c.2505G>C (p.Gln835His)
5g.132892209C>TCA446498840AFF4c.2592G>A (p.Gln864=)
c.1458G>A (p.Gln486=)
c.2505G>A (p.Gln835=)
 gnomAD v4
5g.132892210T>ACA360928500AFF4c.2591A>T (p.Gln864Leu)
c.1457A>T (p.Gln486Leu)
c.2504A>T (p.Gln835Leu)
5g.132892210T>CCA360928503AFF4c.2591A>G (p.Gln864Arg)
c.1457A>G (p.Gln486Arg)
c.2504A>G (p.Gln835Arg)
5g.132892210T>GCA360928506AFF4c.2591A>C (p.Gln864Pro)
c.1457A>C (p.Gln486Pro)
c.2504A>C (p.Gln835Pro)
 gnomAD v4
5g.132892211G>ACA360928507AFF4c.2590C>T (p.Gln864Ter)
c.1456C>T (p.Gln486Ter)
c.2503C>T (p.Gln835Ter)
5g.132892211G>CCA360928510AFF4c.2590C>G (p.Gln864Glu)
c.1456C>G (p.Gln486Glu)
c.2503C>G (p.Gln835Glu)
 ClinVar dbSNP
5g.132892211G>TCA360928512AFF4c.2590C>A (p.Gln864Lys)
c.1456C>A (p.Gln486Lys)
c.2503C>A (p.Gln835Lys)
5g.132892212C>ACA360928516AFF4c.2589G>T (p.Lys863Asn)
c.1455G>T (p.Lys485Asn)
c.2502G>T (p.Lys834Asn)
5g.132892212C>GCA360928518AFF4c.2589G>C (p.Lys863Asn)
c.1455G>C (p.Lys485Asn)
c.2502G>C (p.Lys834Asn)
5g.132892212C>TCA446498844AFF4c.2589G>A (p.Lys863=)
c.1455G>A (p.Lys485=)
c.2502G>A (p.Lys834=)
 gnomAD v4
5g.132892213T>ACA360928521AFF4c.2588A>T (p.Lys863Met)
c.1454A>T (p.Lys485Met)
c.2501A>T (p.Lys834Met)
5g.132892213T>CCA360928524AFF4c.2588A>G (p.Lys863Arg)
c.1454A>G (p.Lys485Arg)
c.2501A>G (p.Lys834Arg)
5g.132892213T>GCA360928531AFF4c.2588A>C (p.Lys863Thr)
c.1454A>C (p.Lys485Thr)
c.2501A>C (p.Lys834Thr)
5g.132892214T>ACA360928544AFF4c.2587A>T (p.Lys863Ter)
c.1453A>T (p.Lys485Ter)
c.2500A>T (p.Lys834Ter)
5g.132892214T>CCA360928535AFF4c.2587A>G (p.Lys863Glu)
c.1453A>G (p.Lys485Glu)
c.2500A>G (p.Lys834Glu)
 gnomAD v4
5g.132892214T>GCA360928541AFF4c.2587A>C (p.Lys863Gln)
c.1453A>C (p.Lys485Gln)
c.2500A>C (p.Lys834Gln)
5g.132892215T>ACA446498848AFF4c.2586A>T (p.Ser862=)
c.1452A>T (p.Ser484=)
c.2499A>T (p.Ser833=)
5g.132892215T>CCA446498847AFF4c.2586A>G (p.Ser862=)
c.1452A>G (p.Ser484=)
c.2499A>G (p.Ser833=)
 gnomAD v4
5g.132892215T>GCA446498846AFF4c.2586A>C (p.Ser862=)
c.1452A>C (p.Ser484=)
c.2499A>C (p.Ser833=)
5g.132892216G>ACA360928547AFF4c.2585C>T (p.Ser862Leu)
c.1451C>T (p.Ser484Leu)
c.2498C>T (p.Ser833Leu)
5g.132892216G>CCA360928549AFF4c.2585C>G (p.Ser862Ter)
c.1451C>G (p.Ser484Ter)
c.2498C>G (p.Ser833Ter)
5g.132892216G>TCA360928551AFF4c.2585C>A (p.Ser862Ter)
c.1451C>A (p.Ser484Ter)
c.2498C>A (p.Ser833Ter)
5g.132892217A>CCA360928554AFF4c.2584T>G (p.Ser862Ala)
c.1450T>G (p.Ser484Ala)
c.2497T>G (p.Ser833Ala)
5g.132892217A>GCA360928556AFF4c.2584T>C (p.Ser862Pro)
c.1450T>C (p.Ser484Pro)
c.2497T>C (p.Ser833Pro)
5g.132892217A>TCA360928559AFF4c.2584T>A (p.Ser862Thr)
c.1450T>A (p.Ser484Thr)
c.2497T>A (p.Ser833Thr)
5g.132892218T>ACA446498849AFF4c.2583A>T (p.Thr861=)
c.1449A>T (p.Thr483=)
c.2496A>T (p.Thr832=)
5g.132892218T>CCA446498850AFF4c.2583A>G (p.Thr861=)
c.1449A>G (p.Thr483=)
c.2496A>G (p.Thr832=)
5g.132892218T>GCA446498851AFF4c.2583A>C (p.Thr861=)
c.1449A>C (p.Thr483=)
c.2496A>C (p.Thr832=)
5g.132892219G>ACA360928561AFF4c.2582C>T (p.Thr861Ile)
c.1448C>T (p.Thr483Ile)
c.2495C>T (p.Thr832Ile)
5g.132892219G>CCA360928564AFF4c.2582C>G (p.Thr861Arg)
c.1448C>G (p.Thr483Arg)
c.2495C>G (p.Thr832Arg)
5g.132892219G>TCA360928566AFF4c.2582C>A (p.Thr861Lys)
c.1448C>A (p.Thr483Lys)
c.2495C>A (p.Thr832Lys)

Number of alleles fetched