Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.20188452A=CA2418513506RPS6KA3c.631+45T= (n.631+45T=)
c.544+45T= (n.544+45T=)
c.547+45T= (n.547+45T=)
c.249+45T= (n.249+45T=)
c.430+45T= (n.430+45T=)
Xg.20188452A>CCA873793747RPS6KA3c.631+45T>G (n.631+45T>G)
c.544+45T>G (n.544+45T>G)
c.547+45T>G (n.547+45T>G)
c.249+45T>G (n.249+45T>G)
c.430+45T>G (n.430+45T>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.20188452A>GCA2518504210RPS6KA3c.631+45T>C (n.631+45T>C)
c.544+45T>C (n.544+45T>C)
c.547+45T>C (n.547+45T>C)
c.249+45T>C (n.249+45T>C)
c.430+45T>C (n.430+45T>C)
Xg.20188453T>CCA2693278540RPS6KA3c.631+44A>G (n.631+44A>G)
c.544+44A>G (n.544+44A>G)
c.547+44A>G (n.547+44A>G)
c.249+44A>G (n.249+44A>G)
c.430+44A>G (n.430+44A>G)
 gnomAD v4
Xg.20188453T>GCA2693278541RPS6KA3c.631+44A>C (n.631+44A>C)
c.544+44A>C (n.544+44A>C)
c.547+44A>C (n.547+44A>C)
c.249+44A>C (n.249+44A>C)
c.430+44A>C (n.430+44A>C)
 gnomAD v4
Xg.20188454T>CCA2693278542RPS6KA3c.631+43A>G (n.631+43A>G)
c.544+43A>G (n.544+43A>G)
c.547+43A>G (n.547+43A>G)
c.249+43A>G (n.249+43A>G)
c.430+43A>G (n.430+43A>G)
 gnomAD v4
Xg.20188455G>TCA2579569524RPS6KA3c.631+42C>A (n.631+42C>A)
c.544+42C>A (n.544+42C>A)
c.547+42C>A (n.547+42C>A)
c.249+42C>A (n.249+42C>A)
c.430+42C>A (n.430+42C>A)
 gnomAD v4
Xg.20188456T>CCA640838918RPS6KA3c.631+41A>G (n.631+41A>G)
c.544+41A>G (n.544+41A>G)
c.547+41A>G (n.547+41A>G)
c.249+41A>G (n.249+41A>G)
c.430+41A>G (n.430+41A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.20188456T=CA2418513507RPS6KA3c.631+41A= (n.631+41A=)
c.544+41A= (n.544+41A=)
c.547+41A= (n.547+41A=)
c.249+41A= (n.249+41A=)
c.430+41A= (n.430+41A=)
Xg.20188457A>GCA2693278545RPS6KA3c.631+40T>C (n.631+40T>C)
c.544+40T>C (n.544+40T>C)
c.547+40T>C (n.547+40T>C)
c.249+40T>C (n.249+40T>C)
c.430+40T>C (n.430+40T>C)
 gnomAD v4
Xg.20188458G>ACA10366232RPS6KA3c.631+39C>T (n.631+39C>T)
c.544+39C>T (n.544+39C>T)
c.547+39C>T (n.547+39C>T)
c.249+39C>T (n.249+39C>T)
c.430+39C>T (n.430+39C>T)
 dbSNP ExAC gnomAD v4
Xg.20188458G>CCA640838919RPS6KA3c.631+39C>G (n.631+39C>G)
c.544+39C>G (n.544+39C>G)
c.547+39C>G (n.547+39C>G)
c.249+39C>G (n.249+39C>G)
c.430+39C>G (n.430+39C>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.20188458G=CA2418513508RPS6KA3c.631+39C= (n.631+39C=)
c.544+39C= (n.544+39C=)
c.547+39C= (n.547+39C=)
c.249+39C= (n.249+39C=)
c.430+39C= (n.430+39C=)
Xg.20188458G>TCA2579569525RPS6KA3c.631+39C>A (n.631+39C>A)
c.544+39C>A (n.544+39C>A)
c.547+39C>A (n.547+39C>A)
c.249+39C>A (n.249+39C>A)
c.430+39C>A (n.430+39C>A)
 gnomAD v4
Xg.20188459G>ACA873793753RPS6KA3c.631+38C>T (n.631+38C>T)
c.544+38C>T (n.544+38C>T)
c.547+38C>T (n.547+38C>T)
c.249+38C>T (n.249+38C>T)
c.430+38C>T (n.430+38C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.20188459G=CA2418513509RPS6KA3c.631+38C= (n.631+38C=)
c.544+38C= (n.544+38C=)
c.547+38C= (n.547+38C=)
c.249+38C= (n.249+38C=)
c.430+38C= (n.430+38C=)
Xg.20188459G>TCA2693278550RPS6KA3c.631+38C>A (n.631+38C>A)
c.544+38C>A (n.544+38C>A)
c.547+38C>A (n.547+38C>A)
c.249+38C>A (n.249+38C>A)
c.430+38C>A (n.430+38C>A)
 gnomAD v4
Xg.20188460A>GCA2693278552RPS6KA3c.631+37T>C (n.631+37T>C)
c.544+37T>C (n.544+37T>C)
c.547+37T>C (n.547+37T>C)
c.249+37T>C (n.249+37T>C)
c.430+37T>C (n.430+37T>C)
 gnomAD v4
Xg.20188461G>ACA640838921RPS6KA3c.631+36C>T (n.631+36C>T)
c.544+36C>T (n.544+36C>T)
c.547+36C>T (n.547+36C>T)
c.249+36C>T (n.249+36C>T)
c.430+36C>T (n.430+36C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.20188461G=CA2418513510RPS6KA3c.631+36C= (n.631+36C=)
c.544+36C= (n.544+36C=)
c.547+36C= (n.547+36C=)
c.249+36C= (n.249+36C=)
c.430+36C= (n.430+36C=)
Xg.20188461G>TCA2693278556RPS6KA3c.631+36C>A (n.631+36C>A)
c.544+36C>A (n.544+36C>A)
c.547+36C>A (n.547+36C>A)
c.249+36C>A (n.249+36C>A)
c.430+36C>A (n.430+36C>A)
 gnomAD v4
Xg.20188462A>GCA2693278558RPS6KA3c.631+35T>C (n.631+35T>C)
c.544+35T>C (n.544+35T>C)
c.547+35T>C (n.547+35T>C)
c.249+35T>C (n.249+35T>C)
c.430+35T>C (n.430+35T>C)
 gnomAD v4
Xg.20188462A>TCA2693278560RPS6KA3c.631+35T>A (n.631+35T>A)
c.544+35T>A (n.544+35T>A)
c.547+35T>A (n.547+35T>A)
c.249+35T>A (n.249+35T>A)
c.430+35T>A (n.430+35T>A)
 gnomAD v4
Xg.20188463A>GCA2693278561RPS6KA3c.631+34T>C (n.631+34T>C)
c.544+34T>C (n.544+34T>C)
c.547+34T>C (n.547+34T>C)
c.249+34T>C (n.249+34T>C)
c.430+34T>C (n.430+34T>C)
 gnomAD v4
Xg.20188464A=CA2418513511RPS6KA3c.631+33T= (n.631+33T=)
c.544+33T= (n.544+33T=)
c.547+33T= (n.547+33T=)
c.249+33T= (n.249+33T=)
c.430+33T= (n.430+33T=)
Xg.20188464A>GCA2418513512RPS6KA3c.631+33T>C (n.631+33T>C)
c.544+33T>C (n.544+33T>C)
c.547+33T>C (n.547+33T>C)
c.249+33T>C (n.249+33T>C)
c.430+33T>C (n.430+33T>C)
 dbSNP gnomAD v4
Xg.20188465A>GCA2693278563RPS6KA3c.631+32T>C (n.631+32T>C)
c.544+32T>C (n.544+32T>C)
c.547+32T>C (n.547+32T>C)
c.249+32T>C (n.249+32T>C)
c.430+32T>C (n.430+32T>C)
 gnomAD v4
Xg.20188466T>CCA1131477485RPS6KA3c.631+31A>G (n.631+31A>G)
c.544+31A>G (n.544+31A>G)
c.547+31A>G (n.547+31A>G)
c.249+31A>G (n.249+31A>G)
c.430+31A>G (n.430+31A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.20188466T=CA2418513513RPS6KA3c.631+31A= (n.631+31A=)
c.544+31A= (n.544+31A=)
c.547+31A= (n.547+31A=)
c.249+31A= (n.249+31A=)
c.430+31A= (n.430+31A=)
Xg.20188467A>GCA2693278564RPS6KA3c.631+30T>C (n.631+30T>C)
c.544+30T>C (n.544+30T>C)
c.547+30T>C (n.547+30T>C)
c.249+30T>C (n.249+30T>C)
c.430+30T>C (n.430+30T>C)
 gnomAD v4
Xg.20188468T>ACA2693278566RPS6KA3c.631+29A>T (n.631+29A>T)
c.544+29A>T (n.544+29A>T)
c.547+29A>T (n.547+29A>T)
c.249+29A>T (n.249+29A>T)
c.430+29A>T (n.430+29A>T)
 gnomAD v4
Xg.20188468T>CCA2418513515RPS6KA3c.631+29A>G (n.631+29A>G)
c.544+29A>G (n.544+29A>G)
c.547+29A>G (n.547+29A>G)
c.249+29A>G (n.249+29A>G)
c.430+29A>G (n.430+29A>G)
 dbSNP gnomAD v4
Xg.20188468T=CA2418513514RPS6KA3c.631+29A= (n.631+29A=)
c.544+29A= (n.544+29A=)
c.547+29A= (n.547+29A=)
c.249+29A= (n.249+29A=)
c.430+29A= (n.430+29A=)
Xg.20188471delCA2693278565RPS6KA3c.631+29del (n.631+29del)
c.544+29del (n.544+29del)
c.547+29del (n.547+29del)
c.249+29del (n.249+29del)
c.430+29del (n.430+29del)
 gnomAD v4
Xg.20188468_20188469insACA2535282787RPS6KA3c.631+28_631+29insT (n.631+28_631+29insT)
c.544+28_544+29insT (n.544+28_544+29insT)
c.547+28_547+29insT (n.547+28_547+29insT)
c.249+28_249+29insT (n.249+28_249+29insT)
c.430+28_430+29insT (n.430+28_430+29insT)
Xg.20188469T>CCA2561525699RPS6KA3c.631+28A>G (n.631+28A>G)
c.544+28A>G (n.544+28A>G)
c.547+28A>G (n.547+28A>G)
c.249+28A>G (n.249+28A>G)
c.430+28A>G (n.430+28A>G)
 gnomAD v4
Xg.20188470T>ACA2693278569RPS6KA3c.631+27A>T (n.631+27A>T)
c.544+27A>T (n.544+27A>T)
c.547+27A>T (n.547+27A>T)
c.249+27A>T (n.249+27A>T)
c.430+27A>T (n.430+27A>T)
 gnomAD v4
Xg.20188470T>CCA2693278570RPS6KA3c.631+27A>G (n.631+27A>G)
c.544+27A>G (n.544+27A>G)
c.547+27A>G (n.547+27A>G)
c.249+27A>G (n.249+27A>G)
c.430+27A>G (n.430+27A>G)
 gnomAD v4
Xg.20188470T>GCA10366233RPS6KA3c.631+27A>C (n.631+27A>C)
c.544+27A>C (n.544+27A>C)
c.547+27A>C (n.547+27A>C)
c.249+27A>C (n.249+27A>C)
c.430+27A>C (n.430+27A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.20188470T=CA2418513516RPS6KA3c.631+27A= (n.631+27A=)
c.544+27A= (n.544+27A=)
c.547+27A= (n.547+27A=)
c.249+27A= (n.249+27A=)
c.430+27A= (n.430+27A=)
Xg.20188471T>CCA2693278572RPS6KA3c.631+26A>G (n.631+26A>G)
c.544+26A>G (n.544+26A>G)
c.547+26A>G (n.547+26A>G)
c.249+26A>G (n.249+26A>G)
c.430+26A>G (n.430+26A>G)
 gnomAD v4
Xg.20188472A=CA2418513517RPS6KA3c.631+25T= (n.631+25T=)
c.544+25T= (n.544+25T=)
c.547+25T= (n.547+25T=)
c.249+25T= (n.249+25T=)
c.430+25T= (n.430+25T=)
Xg.20188472A>GCA10366234RPS6KA3c.631+25T>C (n.631+25T>C)
c.544+25T>C (n.544+25T>C)
c.547+25T>C (n.547+25T>C)
c.249+25T>C (n.249+25T>C)
c.430+25T>C (n.430+25T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.20188472A>TCA2693278575RPS6KA3c.631+25T>A (n.631+25T>A)
c.544+25T>A (n.544+25T>A)
c.547+25T>A (n.547+25T>A)
c.249+25T>A (n.249+25T>A)
c.430+25T>A (n.430+25T>A)
 gnomAD v4
Xg.20188473A>GCA2693278576RPS6KA3c.631+24T>C (n.631+24T>C)
c.544+24T>C (n.544+24T>C)
c.547+24T>C (n.547+24T>C)
c.249+24T>C (n.249+24T>C)
c.430+24T>C (n.430+24T>C)
 gnomAD v4
Xg.20188474T>ACA2693278579RPS6KA3c.631+23A>T (n.631+23A>T)
c.544+23A>T (n.544+23A>T)
c.547+23A>T (n.547+23A>T)
c.249+23A>T (n.249+23A>T)
c.430+23A>T (n.430+23A>T)
 gnomAD v4
Xg.20188474T>CCA10366235RPS6KA3c.631+23A>G (n.631+23A>G)
c.544+23A>G (n.544+23A>G)
c.547+23A>G (n.547+23A>G)
c.249+23A>G (n.249+23A>G)
c.430+23A>G (n.430+23A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.20188474T=CA2418513518RPS6KA3c.631+23A= (n.631+23A=)
c.544+23A= (n.544+23A=)
c.547+23A= (n.547+23A=)
c.249+23A= (n.249+23A=)
c.430+23A= (n.430+23A=)
Xg.20188475A>CCA2693278583RPS6KA3c.631+22T>G (n.631+22T>G)
c.544+22T>G (n.544+22T>G)
c.547+22T>G (n.547+22T>G)
c.249+22T>G (n.249+22T>G)
c.430+22T>G (n.430+22T>G)
 gnomAD v4
Xg.20188475A>GCA2693278585RPS6KA3c.631+22T>C (n.631+22T>C)
c.544+22T>C (n.544+22T>C)
c.547+22T>C (n.547+22T>C)
c.249+22T>C (n.249+22T>C)
c.430+22T>C (n.430+22T>C)
 gnomAD v4
Xg.20188478delCA2579569526RPS6KA3c.631+22del (n.631+22del)
c.544+22del (n.544+22del)
c.547+22del (n.547+22del)
c.249+22del (n.249+22del)
c.430+22del (n.430+22del)
 gnomAD v4
Xg.20188476A>GCA2693278586RPS6KA3c.631+21T>C (n.631+21T>C)
c.544+21T>C (n.544+21T>C)
c.547+21T>C (n.547+21T>C)
c.249+21T>C (n.249+21T>C)
c.430+21T>C (n.430+21T>C)
 gnomAD v4
Xg.20188477A>GCA2693278587RPS6KA3c.631+20T>C (n.631+20T>C)
c.544+20T>C (n.544+20T>C)
c.547+20T>C (n.547+20T>C)
c.249+20T>C (n.249+20T>C)
c.430+20T>C (n.430+20T>C)
 gnomAD v4
Xg.20188478A>CCA2693278589RPS6KA3c.631+19T>G (n.631+19T>G)
c.544+19T>G (n.544+19T>G)
c.547+19T>G (n.547+19T>G)
c.249+19T>G (n.249+19T>G)
c.430+19T>G (n.430+19T>G)
 gnomAD v4
Xg.20188478A>GCA2693278590RPS6KA3c.631+19T>C (n.631+19T>C)
c.544+19T>C (n.544+19T>C)
c.547+19T>C (n.547+19T>C)
c.249+19T>C (n.249+19T>C)
c.430+19T>C (n.430+19T>C)
 gnomAD v4
Xg.20188479C>ACA2693278591RPS6KA3c.631+18G>T (n.631+18G>T)
c.544+18G>T (n.544+18G>T)
c.547+18G>T (n.547+18G>T)
c.249+18G>T (n.249+18G>T)
c.430+18G>T (n.430+18G>T)
 gnomAD v4
Xg.20188479C=CA2418513519RPS6KA3c.631+18G= (n.631+18G=)
c.544+18G= (n.544+18G=)
c.547+18G= (n.547+18G=)
c.249+18G= (n.249+18G=)
c.430+18G= (n.430+18G=)
Xg.20188479C>TCA10366236RPS6KA3c.631+18G>A (n.631+18G>A)
c.544+18G>A (n.544+18G>A)
c.547+18G>A (n.547+18G>A)
c.249+18G>A (n.249+18G>A)
c.430+18G>A (n.430+18G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.20188480G>ACA10366237RPS6KA3c.631+17C>T (n.631+17C>T)
c.544+17C>T (n.544+17C>T)
c.547+17C>T (n.547+17C>T)
c.249+17C>T (n.249+17C>T)
c.430+17C>T (n.430+17C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.20188480G>CCA2693278592RPS6KA3c.631+17C>G (n.631+17C>G)
c.544+17C>G (n.544+17C>G)
c.547+17C>G (n.547+17C>G)
c.249+17C>G (n.249+17C>G)
c.430+17C>G (n.430+17C>G)
 gnomAD v4
Xg.20188480G=CA2418513520RPS6KA3c.631+17C= (n.631+17C=)
c.544+17C= (n.544+17C=)
c.547+17C= (n.547+17C=)
c.249+17C= (n.249+17C=)
c.430+17C= (n.430+17C=)
Xg.20188480G>TCA2693278593RPS6KA3c.631+17C>A (n.631+17C>A)
c.544+17C>A (n.544+17C>A)
c.547+17C>A (n.547+17C>A)
c.249+17C>A (n.249+17C>A)
c.430+17C>A (n.430+17C>A)
 gnomAD v4
Xg.20188481A>GCA2693278594RPS6KA3c.631+16T>C (n.631+16T>C)
c.544+16T>C (n.544+16T>C)
c.547+16T>C (n.547+16T>C)
c.249+16T>C (n.249+16T>C)
c.430+16T>C (n.430+16T>C)
 gnomAD v4
Xg.20188481A>TCA2693278595RPS6KA3c.631+16T>A (n.631+16T>A)
c.544+16T>A (n.544+16T>A)
c.547+16T>A (n.547+16T>A)
c.249+16T>A (n.249+16T>A)
c.430+16T>A (n.430+16T>A)
 gnomAD v4
Xg.20188482G>ACA2693278597RPS6KA3c.631+15C>T (n.631+15C>T)
c.544+15C>T (n.544+15C>T)
c.547+15C>T (n.547+15C>T)
c.249+15C>T (n.249+15C>T)
c.430+15C>T (n.430+15C>T)
 gnomAD v4
Xg.20188482G>CCA2693278598RPS6KA3c.631+15C>G (n.631+15C>G)
c.544+15C>G (n.544+15C>G)
c.547+15C>G (n.547+15C>G)
c.249+15C>G (n.249+15C>G)
c.430+15C>G (n.430+15C>G)
 gnomAD v4
Xg.20188482G>TCA2693278599RPS6KA3c.631+15C>A (n.631+15C>A)
c.544+15C>A (n.544+15C>A)
c.547+15C>A (n.547+15C>A)
c.249+15C>A (n.249+15C>A)
c.430+15C>A (n.430+15C>A)
 gnomAD v4
Xg.20188483dupCA2693278596RPS6KA3c.631+15dup (n.631+15dup)
c.544+15dup (n.544+15dup)
c.547+15dup (n.547+15dup)
c.249+15dup (n.249+15dup)
c.430+15dup (n.430+15dup)
 gnomAD v4
Xg.20188483G>ACA2693278600RPS6KA3c.631+14C>T (n.631+14C>T)
c.544+14C>T (n.544+14C>T)
c.547+14C>T (n.547+14C>T)
c.249+14C>T (n.249+14C>T)
c.430+14C>T (n.430+14C>T)
 gnomAD v4
Xg.20188483G>TCA2693278601RPS6KA3c.631+14C>A (n.631+14C>A)
c.544+14C>A (n.544+14C>A)
c.547+14C>A (n.547+14C>A)
c.249+14C>A (n.249+14C>A)
c.430+14C>A (n.430+14C>A)
 gnomAD v4
Xg.20188484delCA2693278602RPS6KA3c.631+13del (n.631+13del)
c.544+13del (n.544+13del)
c.547+13del (n.547+13del)
c.249+13del (n.249+13del)
c.430+13del (n.430+13del)
 gnomAD v4
Xg.20188484A=CA2418513521RPS6KA3c.631+13T= (n.631+13T=)
c.544+13T= (n.544+13T=)
c.547+13T= (n.547+13T=)
c.249+13T= (n.249+13T=)
c.430+13T= (n.430+13T=)
Xg.20188484A>GCA10366240RPS6KA3c.631+13T>C (n.631+13T>C)
c.544+13T>C (n.544+13T>C)
c.547+13T>C (n.547+13T>C)
c.249+13T>C (n.249+13T>C)
c.430+13T>C (n.430+13T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.20188484A>TCA2693278603RPS6KA3c.631+13T>A (n.631+13T>A)
c.544+13T>A (n.544+13T>A)
c.547+13T>A (n.547+13T>A)
c.249+13T>A (n.249+13T>A)
c.430+13T>A (n.430+13T>A)
 gnomAD v4
Xg.20188484_20188488delinsATTTTCA2418513522RPS6KA3c.631+9_631+13delinsAAAAT (n.631+9_631+13delinsAAAAT)
c.544+9_544+13delinsAAAAT (n.544+9_544+13delinsAAAAT)
c.547+9_547+13delinsAAAAT (n.547+9_547+13delinsAAAAT)
c.249+9_249+13delinsAAAAT (n.249+9_249+13delinsAAAAT)
c.430+9_430+13delinsAAAAT (n.430+9_430+13delinsAAAAT)
Xg.20188485T>ACA2693278606RPS6KA3c.631+12A>T (n.631+12A>T)
c.544+12A>T (n.544+12A>T)
c.547+12A>T (n.547+12A>T)
c.249+12A>T (n.249+12A>T)
c.430+12A>T (n.430+12A>T)
 gnomAD v4
Xg.20188485T>CCA2693278605RPS6KA3c.631+12A>G (n.631+12A>G)
c.544+12A>G (n.544+12A>G)
c.547+12A>G (n.547+12A>G)
c.249+12A>G (n.249+12A>G)
c.430+12A>G (n.430+12A>G)
 gnomAD v4
Xg.20188485T>GCA2693278604RPS6KA3c.631+12A>C (n.631+12A>C)
c.544+12A>C (n.544+12A>C)
c.547+12A>C (n.547+12A>C)
c.249+12A>C (n.249+12A>C)
c.430+12A>C (n.430+12A>C)
 gnomAD v4
Xg.20188494dupCA10366239RPS6KA3c.631+12dup (n.631+12dup)
c.544+12dup (n.544+12dup)
c.547+12dup (n.547+12dup)
c.249+12dup (n.249+12dup)
c.430+12dup (n.430+12dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.20188493_20188494dupCA640838939RPS6KA3c.631+11_631+12dup (n.631+11_631+12dup)
c.544+11_544+12dup (n.544+11_544+12dup)
c.547+11_547+12dup (n.547+11_547+12dup)
c.249+11_249+12dup (n.249+11_249+12dup)
c.430+11_430+12dup (n.430+11_430+12dup)
 gnomAD v2 gnomAD v4
Xg.20188492_20188494dupCA2693278608RPS6KA3c.631+10_631+12dup (n.631+10_631+12dup)
c.544+10_544+12dup (n.544+10_544+12dup)
c.547+10_547+12dup (n.547+10_547+12dup)
c.249+10_249+12dup (n.249+10_249+12dup)
c.430+10_430+12dup (n.430+10_430+12dup)
 gnomAD v4
Xg.20188488_20188494dupCA2693278607RPS6KA3c.631+6_631+12dup (n.631+6_631+12dup)
c.544+6_544+12dup (n.544+6_544+12dup)
c.547+6_547+12dup (n.547+6_547+12dup)
c.249+6_249+12dup (n.249+6_249+12dup)
c.430+6_430+12dup (n.430+6_430+12dup)
 gnomAD v4
Xg.20188494delCA10366238RPS6KA3c.631+12del (n.631+12del)
c.544+12del (n.544+12del)
c.547+12del (n.547+12del)
c.249+12del (n.249+12del)
c.430+12del (n.430+12del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.20188493_20188494delCA640838936RPS6KA3c.631+11_631+12del (n.631+11_631+12del)
c.544+11_544+12del (n.544+11_544+12del)
c.547+11_547+12del (n.547+11_547+12del)
c.249+11_249+12del (n.249+11_249+12del)
c.430+11_430+12del (n.430+11_430+12del)
 gnomAD v2 gnomAD v4
Xg.20188492_20188494delCA2570061081RPS6KA3c.631+10_631+12del (n.631+10_631+12del)
c.544+10_544+12del (n.544+10_544+12del)
c.547+10_547+12del (n.547+10_547+12del)
c.249+10_249+12del (n.249+10_249+12del)
c.430+10_430+12del (n.430+10_430+12del)
 gnomAD v4
Xg.20188491_20188494delCA10366241RPS6KA3c.631+9_631+12del (n.631+9_631+12del)
c.544+9_544+12del (n.544+9_544+12del)
c.547+9_547+12del (n.547+9_547+12del)
c.249+9_249+12del (n.249+9_249+12del)
c.430+9_430+12del (n.430+9_430+12del)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.20188485_20188486insCCA2693278609RPS6KA3c.631+11_631+12insG (n.631+11_631+12insG)
c.544+11_544+12insG (n.544+11_544+12insG)
c.547+11_547+12insG (n.547+11_547+12insG)
c.249+11_249+12insG (n.249+11_249+12insG)
c.430+11_430+12insG (n.430+11_430+12insG)
 gnomAD v4
Xg.20188486T>ACA2693278610RPS6KA3c.631+11A>T (n.631+11A>T)
c.544+11A>T (n.544+11A>T)
c.547+11A>T (n.547+11A>T)
c.249+11A>T (n.249+11A>T)
c.430+11A>T (n.430+11A>T)
 gnomAD v4
Xg.20188486T>CCA10366242RPS6KA3c.631+11A>G (n.631+11A>G)
c.544+11A>G (n.544+11A>G)
c.547+11A>G (n.547+11A>G)
c.249+11A>G (n.249+11A>G)
c.430+11A>G (n.430+11A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.20188486T=CA2418513523RPS6KA3c.631+11A= (n.631+11A=)
c.544+11A= (n.544+11A=)
c.547+11A= (n.547+11A=)
c.249+11A= (n.249+11A=)
c.430+11A= (n.430+11A=)
Xg.20188487T>CCA2693278611RPS6KA3c.631+10A>G (n.631+10A>G)
c.544+10A>G (n.544+10A>G)
c.547+10A>G (n.547+10A>G)
c.249+10A>G (n.249+10A>G)
c.430+10A>G (n.430+10A>G)
 gnomAD v4
Xg.20188488T>CCA2693278612RPS6KA3c.631+9A>G (n.631+9A>G)
c.544+9A>G (n.544+9A>G)
c.547+9A>G (n.547+9A>G)
c.249+9A>G (n.249+9A>G)
c.430+9A>G (n.430+9A>G)
 gnomAD v4
Xg.20188488T>GCA10366243RPS6KA3c.631+9A>C (n.631+9A>C)
c.544+9A>C (n.544+9A>C)
c.547+9A>C (n.547+9A>C)
c.249+9A>C (n.249+9A>C)
c.430+9A>C (n.430+9A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.20188488T=CA2418513524RPS6KA3c.631+9A= (n.631+9A=)
c.544+9A= (n.544+9A=)
c.547+9A= (n.547+9A=)
c.249+9A= (n.249+9A=)
c.430+9A= (n.430+9A=)
Xg.20188489T>CCA2693278613RPS6KA3c.631+8A>G (n.631+8A>G)
c.544+8A>G (n.544+8A>G)
c.547+8A>G (n.547+8A>G)
c.249+8A>G (n.249+8A>G)
c.430+8A>G (n.430+8A>G)
 gnomAD v4
Xg.20188490T>CCA10366244RPS6KA3c.631+7A>G (n.631+7A>G)
c.544+7A>G (n.544+7A>G)
c.547+7A>G (n.547+7A>G)
c.249+7A>G (n.249+7A>G)
c.430+7A>G (n.430+7A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.20188490T=CA2418513525RPS6KA3c.631+7A= (n.631+7A=)
c.544+7A= (n.544+7A=)
c.547+7A= (n.547+7A=)
c.249+7A= (n.249+7A=)
c.430+7A= (n.430+7A=)
Xg.20188491T>CCA2693278614RPS6KA3c.631+6A>G (n.631+6A>G)
c.544+6A>G (n.544+6A>G)
c.547+6A>G (n.547+6A>G)
c.249+6A>G (n.249+6A>G)
c.430+6A>G (n.430+6A>G)
 gnomAD v4
Xg.20188492T>CCA2693278615RPS6KA3c.631+5A>G (n.631+5A>G)
c.544+5A>G (n.544+5A>G)
c.547+5A>G (n.547+5A>G)
c.249+5A>G (n.249+5A>G)
c.430+5A>G (n.430+5A>G)
 gnomAD v4
Xg.20188492_20188493insGCA2693278616RPS6KA3c.631+4_631+5insC (n.631+4_631+5insC)
c.544+4_544+5insC (n.544+4_544+5insC)
c.547+4_547+5insC (n.547+4_547+5insC)
c.249+4_249+5insC (n.249+4_249+5insC)
c.430+4_430+5insC (n.430+4_430+5insC)
 gnomAD v4
Xg.20188493T>CCA2693278617RPS6KA3c.631+4A>G (n.631+4A>G)
c.544+4A>G (n.544+4A>G)
c.547+4A>G (n.547+4A>G)
c.249+4A>G (n.249+4A>G)
c.430+4A>G (n.430+4A>G)
 gnomAD v4
Xg.20188494T>CCA2693278618RPS6KA3c.631+3A>G (n.631+3A>G)
c.544+3A>G (n.544+3A>G)
c.547+3A>G (n.547+3A>G)
c.249+3A>G (n.249+3A>G)
c.430+3A>G (n.430+3A>G)
 gnomAD v4
Xg.20188495A=CA2418513526RPS6KA3c.631+2T= (n.631+2T=)
c.544+2T= (n.544+2T=)
c.547+2T= (n.547+2T=)
c.249+2T= (n.249+2T=)
c.430+2T= (n.430+2T=)
Xg.20188495A>CCA412508742RPS6KA3c.631+2T>G (n.631+2T>G)
c.544+2T>G (n.544+2T>G)
c.547+2T>G (n.547+2T>G)
c.249+2T>G (n.249+2T>G)
c.430+2T>G (n.430+2T>G)
Xg.20188495A>GCA412508744RPS6KA3c.631+2T>C (n.631+2T>C)
c.544+2T>C (n.544+2T>C)
c.547+2T>C (n.547+2T>C)
c.249+2T>C (n.249+2T>C)
c.430+2T>C (n.430+2T>C)
 gnomAD v4
Xg.20188495A>TCA412508747RPS6KA3c.631+2T>A (n.631+2T>A)
c.544+2T>A (n.544+2T>A)
c.547+2T>A (n.547+2T>A)
c.249+2T>A (n.249+2T>A)
c.430+2T>A (n.430+2T>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.20188495_20188497delCA2693278619RPS6KA3c.631_631+2del
c.544_544+2del
c.547_547+2del
c.249_249+2del
c.430_430+2del
 gnomAD v4
Xg.20188496C>ACA412508755RPS6KA3c.631+1G>T (n.631+1G>T)
c.544+1G>T (n.544+1G>T)
c.547+1G>T (n.547+1G>T)
c.249+1G>T (n.249+1G>T)
c.430+1G>T (n.430+1G>T)
 gnomAD v4
Xg.20188496C=CA2418513527RPS6KA3c.631+1G= (n.631+1G=)
c.544+1G= (n.544+1G=)
c.547+1G= (n.547+1G=)
c.249+1G= (n.249+1G=)
c.430+1G= (n.430+1G=)
Xg.20188496C>GCA412508750RPS6KA3c.631+1G>C (n.631+1G>C)
c.544+1G>C (n.544+1G>C)
c.547+1G>C (n.547+1G>C)
c.249+1G>C (n.249+1G>C)
c.430+1G>C (n.430+1G>C)
 gnomAD v4
Xg.20188496C>TCA412508753RPS6KA3c.631+1G>A (n.631+1G>A)
c.544+1G>A (n.544+1G>A)
c.547+1G>A (n.547+1G>A)
c.249+1G>A (n.249+1G>A)
c.430+1G>A (n.430+1G>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.20188497C>ACA412508758RPS6KA3c.631G>T (p.Asp211Tyr)
c.544G>T (p.Asp182Tyr)
c.547G>T (p.Asp183Tyr)
c.249G>T (n.249G>T)
c.430G>T (p.Val144Phe)
 gnomAD v4
Xg.20188497C=CA2418513528RPS6KA3c.631G= (p.Asp211=)
c.544G= (p.Asp182=)
c.547G= (p.Asp183=)
c.249G= (n.249G=)
c.430G= (p.Val144=)
Xg.20188497C>GCA412508759RPS6KA3c.631G>C (p.Asp211His)
c.544G>C (p.Asp182His)
c.547G>C (p.Asp183His)
c.249G>C (n.249G>C)
c.430G>C (p.Val144Leu)
Xg.20188497C>TCA412508762RPS6KA3c.631G>A (p.Asp211Asn)
c.544G>A (p.Asp182Asn)
c.547G>A (p.Asp183Asn)
c.249G>A (n.249G>A)
c.430G>A (p.Val144Ile)
 dbSNP gnomAD v2 gnomAD v4
Xg.20188498T>ACA515610641RPS6KA3c.630A>T (p.Thr210=)
c.543A>T (p.Thr181=)
c.546A>T (p.Thr182=)
c.248A>T (n.248A>T)
c.429A>T (p.Thr143=)
 gnomAD v4
Xg.20188498T>CCA10366245RPS6KA3c.630A>G (p.Thr210=)
c.543A>G (p.Thr181=)
c.546A>G (p.Thr182=)
c.248A>G (n.248A>G)
c.429A>G (p.Thr143=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.20188498T>GCA515610644RPS6KA3c.630A>C (p.Thr210=)
c.543A>C (p.Thr181=)
c.546A>C (p.Thr182=)
c.248A>C (n.248A>C)
c.429A>C (p.Thr143=)
 gnomAD v4
Xg.20188498T=CA2418513529RPS6KA3c.630A= (p.Thr210=)
c.543A= (p.Thr181=)
c.546A= (p.Thr182=)
c.248A= (n.248A=)
c.429A= (p.Thr143=)
Xg.20188499_20188501delCA2695231412RPS6KA3c.628_630del (p.Thr210del)
c.541_543del (p.Thr181del)
c.544_546del (p.Thr182del)
c.246_248del (n.[c.246_248del;Ter82=])
c.427_429del (p.Thr143del)
Xg.20188499G>ACA412508767RPS6KA3c.629C>T (p.Thr210Ile)
c.542C>T (p.Thr181Ile)
c.545C>T (p.Thr182Ile)
c.247C>T (n.247C>T)
c.428C>T (p.Thr143Ile)
 ClinVar dbSNP gnomAD v4
Xg.20188499G>CCA412508769RPS6KA3c.629C>G (p.Thr210Arg)
c.542C>G (p.Thr181Arg)
c.545C>G (p.Thr182Arg)
c.247C>G (n.247C>G)
c.428C>G (p.Thr143Arg)
Xg.20188499G=CA2418513530RPS6KA3c.629C= (p.Thr210=)
c.542C= (p.Thr181=)
c.545C= (p.Thr182=)
c.247C= (n.247C=)
c.428C= (p.Thr143=)
Xg.20188499G>TCA412508771RPS6KA3c.629C>A (p.Thr210Lys)
c.542C>A (p.Thr181Lys)
c.545C>A (p.Thr182Lys)
c.247C>A (n.247C>A)
c.428C>A (p.Thr143Lys)
 dbSNP gnomAD v2 gnomAD v4
Xg.20188500T>ACA412508774RPS6KA3c.628A>T (p.Thr210Ser)
c.541A>T (p.Thr181Ser)
c.544A>T (p.Thr182Ser)
c.246A>T (p.Ter82Tyr)
c.427A>T (p.Thr143Ser)
 gnomAD v4
Xg.20188500T>CCA412508776RPS6KA3c.628A>G (p.Thr210Ala)
c.541A>G (p.Thr181Ala)
c.544A>G (p.Thr182Ala)
c.246A>G (p.Ter82=)
c.427A>G (p.Thr143Ala)
 gnomAD v4
Xg.20188500T>GCA412508778RPS6KA3c.628A>C (p.Thr210Pro)
c.541A>C (p.Thr181Pro)
c.544A>C (p.Thr182Pro)
c.246A>C (p.Ter82Tyr)
c.427A>C (p.Thr143Pro)
Xg.20188501T>ACA412508780RPS6KA3c.627A>T (p.Leu209Phe)
c.540A>T (p.Leu180Phe)
c.543A>T (p.Leu181Phe)
c.245A>T (p.Ter82Leu)
c.426A>T (p.Leu142Phe)
 gnomAD v4
Xg.20188501T>CCA515610647RPS6KA3c.627A>G (p.Leu209=)
c.540A>G (p.Leu180=)
c.543A>G (p.Leu181=)
c.245A>G (p.Ter82=)
c.426A>G (p.Leu142=)
 gnomAD v4
Xg.20188501T>GCA412508782RPS6KA3c.627A>C (p.Leu209Phe)
c.540A>C (p.Leu180Phe)
c.543A>C (p.Leu181Phe)
c.245A>C (p.Ter82Ser)
c.426A>C (p.Leu142Phe)
Xg.20188502A>CCA412508794RPS6KA3c.626T>G (p.Leu209Ter)
c.539T>G (p.Leu180Ter)
c.542T>G (p.Leu181Ter)
c.244T>G (p.Ter82Glu)
c.425T>G (p.Leu142Ter)
Xg.20188502A>GCA412508795RPS6KA3c.626T>C (p.Leu209Ser)
c.539T>C (p.Leu180Ser)
c.542T>C (p.Leu181Ser)
c.244T>C (p.Ter82Gln)
c.425T>C (p.Leu142Ser)
 gnomAD v4
Xg.20188502A>TCA412508784RPS6KA3c.626T>A (p.Leu209Ter)
c.539T>A (p.Leu180Ter)
c.542T>A (p.Leu181Ter)
c.244T>A (p.Ter82Lys)
c.425T>A (p.Leu142Ter)
 gnomAD v4
Xg.20188503A>CCA412508798RPS6KA3c.625T>G (p.Leu209Val)
c.538T>G (p.Leu180Val)
c.541T>G (p.Leu181Val)
c.243T>G (p.Ser81Arg)
c.424T>G (p.Leu142Val)
Xg.20188503A>GCA515610653RPS6KA3c.625T>C (p.Leu209=)
c.538T>C (p.Leu180=)
c.541T>C (p.Leu181=)
c.243T>C (p.Ser81=)
c.424T>C (p.Leu142=)
 gnomAD v4
Xg.20188503A>TCA412508800RPS6KA3c.625T>A (p.Leu209Ile)
c.538T>A (p.Leu180Ile)
c.541T>A (p.Leu181Ile)
c.243T>A (p.Ser81Arg)
c.424T>A (p.Leu142Ile)
Xg.20188504C>ACA412508802RPS6KA3c.624G>T (p.Lys208Asn)
c.537G>T (p.Lys179Asn)
c.540G>T (p.Lys180Asn)
c.242G>T (p.Ser81Ile)
c.423G>T (p.Lys141Asn)
Xg.20188504C>GCA412508804RPS6KA3c.624G>C (p.Lys208Asn)
c.537G>C (p.Lys179Asn)
c.540G>C (p.Lys180Asn)
c.242G>C (p.Ser81Thr)
c.423G>C (p.Lys141Asn)
Xg.20188504C>TCA515610655RPS6KA3c.624G>A (p.Lys208=)
c.537G>A (p.Lys179=)
c.540G>A (p.Lys180=)
c.242G>A (p.Ser81Asn)
c.423G>A (p.Lys141=)
 gnomAD v4
Xg.20188505T>ACA412508807RPS6KA3c.623A>T (p.Lys208Met)
c.536A>T (p.Lys179Met)
c.539A>T (p.Lys180Met)
c.241A>T (p.Ser81Cys)
c.422A>T (p.Lys141Met)
 gnomAD v4
Xg.20188505T>CCA412508810RPS6KA3c.623A>G (p.Lys208Arg)
c.536A>G (p.Lys179Arg)
c.539A>G (p.Lys180Arg)
c.241A>G (p.Ser81Gly)
c.422A>G (p.Lys141Arg)
 gnomAD v4
Xg.20188505T>GCA412508811RPS6KA3c.623A>C (p.Lys208Thr)
c.536A>C (p.Lys179Thr)
c.539A>C (p.Lys180Thr)
c.241A>C (p.Ser81Arg)
c.422A>C (p.Lys141Thr)
Xg.20188506T>ACA412508815RPS6KA3c.622A>T (p.Lys208Ter)
c.535A>T (p.Lys179Ter)
c.538A>T (p.Lys180Ter)
c.240A>T (p.Ser80=)
c.421A>T (p.Lys141Ter)
Xg.20188506T>CCA412508819RPS6KA3c.622A>G (p.Lys208Glu)
c.535A>G (p.Lys179Glu)
c.538A>G (p.Lys180Glu)
c.240A>G (p.Ser80=)
c.421A>G (p.Lys141Glu)
 gnomAD v4
Xg.20188506T>GCA412508817RPS6KA3c.622A>C (p.Lys208Gln)
c.535A>C (p.Lys179Gln)
c.538A>C (p.Lys180Gln)
c.240A>C (p.Ser80=)
c.421A>C (p.Lys141Gln)
Xg.20188506_20188569delCA2695231413RPS6KA3c.594-35_622del
c.507-35_535del
c.510-35_538del
c.212-35_240del
c.393-35_421del
Xg.20188507G>ACA515610660RPS6KA3c.621C>T (p.Ile207=)
c.534C>T (p.Ile178=)
c.537C>T (p.Ile179=)
c.239C>T (p.Ser80Leu)
c.420C>T (p.Ile140=)
 gnomAD v4
Xg.20188507G>CCA412508823RPS6KA3c.621C>G (p.Ile207Met)
c.534C>G (p.Ile178Met)
c.537C>G (p.Ile179Met)
c.239C>G (p.Ser80Ter)
c.420C>G (p.Ile140Met)
Xg.20188507G>TCA515610659RPS6KA3c.621C>A (p.Ile207=)
c.534C>A (p.Ile178=)
c.537C>A (p.Ile179=)
c.239C>A (p.Ser80Ter)
c.420C>A (p.Ile140=)
 gnomAD v4
Xg.20188508A>CCA412508824RPS6KA3c.620T>G (p.Ile207Ser)
c.533T>G (p.Ile178Ser)
c.536T>G (p.Ile179Ser)
c.238T>G (p.Ser80Ala)
c.419T>G (p.Ile140Ser)
Xg.20188508A>GCA412508826RPS6KA3c.620T>C (p.Ile207Thr)
c.533T>C (p.Ile178Thr)
c.536T>C (p.Ile179Thr)
c.238T>C (p.Ser80Pro)
c.419T>C (p.Ile140Thr)
 gnomAD v4
Xg.20188508A>TCA412508827RPS6KA3c.620T>A (p.Ile207Asn)
c.533T>A (p.Ile178Asn)
c.536T>A (p.Ile179Asn)
c.238T>A (p.Ser80Thr)
c.419T>A (p.Ile140Asn)
 gnomAD v4
Xg.20188509T>ACA412508829RPS6KA3c.619A>T (p.Ile207Phe)
c.532A>T (p.Ile178Phe)
c.535A>T (p.Ile179Phe)
c.237A>T (p.Thr79=)
c.418A>T (p.Ile140Phe)
 gnomAD v4
Xg.20188509T>CCA412508833RPS6KA3c.619A>G (p.Ile207Val)
c.532A>G (p.Ile178Val)
c.535A>G (p.Ile179Val)
c.237A>G (p.Thr79=)
c.418A>G (p.Ile140Val)
 gnomAD v4
Xg.20188509T>GCA412508830RPS6KA3c.619A>C (p.Ile207Leu)
c.532A>C (p.Ile178Leu)
c.535A>C (p.Ile179Leu)
c.237A>C (p.Thr79=)
c.418A>C (p.Ile140Leu)
Xg.20188511_20188512delCA2579569527RPS6KA3c.618_619del (p.Ile207GlnfsTer9)
c.531_532del (p.Ile178GlnfsTer9)
c.534_535del (p.Ile179GlnfsTer9)
c.236_237del (p.Thr79IlefsTer?)
c.417_418del (p.Ile140GlnfsTer23)
Xg.20188510G>ACA10366246RPS6KA3c.618C>T (p.His206=)
c.531C>T (p.His177=)
c.534C>T (p.His178=)
c.236C>T (p.Thr79Ile)
c.417C>T (p.His139=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.20188510G>CCA412508836RPS6KA3c.618C>G (p.His206Gln)
c.531C>G (p.His177Gln)
c.534C>G (p.His178Gln)
c.236C>G (p.Thr79Arg)
c.417C>G (p.His139Gln)
Xg.20188510G=CA2418513531RPS6KA3c.618C= (p.His206=)
c.531C= (p.His177=)
c.534C= (p.His178=)
c.236C= (p.Thr79=)
c.417C= (p.His139=)
Xg.20188510G>TCA412508838RPS6KA3c.618C>A (p.His206Gln)
c.531C>A (p.His177Gln)
c.534C>A (p.His178Gln)
c.236C>A (p.Thr79Lys)
c.417C>A (p.His139Gln)
 gnomAD v4
Xg.20188511T>ACA412508839RPS6KA3c.617A>T (p.His206Leu)
c.530A>T (p.His177Leu)
c.533A>T (p.His178Leu)
c.235A>T (p.Thr79Ser)
c.416A>T (p.His139Leu)
 gnomAD v4
Xg.20188511T>CCA16608808RPS6KA3c.617A>G (p.His206Arg)
c.530A>G (p.His177Arg)
c.533A>G (p.His178Arg)
c.235A>G (p.Thr79Ala)
c.416A>G (p.His139Arg)
 ClinVar dbSNP gnomAD v4
Xg.20188511T>GCA412508846RPS6KA3c.617A>C (p.His206Pro)
c.530A>C (p.His177Pro)
c.533A>C (p.His178Pro)
c.235A>C (p.Thr79Pro)
c.416A>C (p.His139Pro)
Xg.20188511T=CA2418513532RPS6KA3c.617A= (p.His206=)
c.530A= (p.His177=)
c.533A= (p.His178=)
c.235A= (p.Thr79=)
c.416A= (p.His139=)
Xg.20188512G>ACA412508848RPS6KA3c.616C>T (p.His206Tyr)
c.529C>T (p.His177Tyr)
c.532C>T (p.His178Tyr)
c.234C>T (p.Val78=)
c.415C>T (p.His139Tyr)
 gnomAD v4
Xg.20188512G>CCA412508850RPS6KA3c.616C>G (p.His206Asp)
c.529C>G (p.His177Asp)
c.532C>G (p.His178Asp)
c.234C>G (p.Val78=)
c.415C>G (p.His139Asp)
Xg.20188512G>TCA412508852RPS6KA3c.616C>A (p.His206Asn)
c.529C>A (p.His177Asn)
c.532C>A (p.His178Asn)
c.234C>A (p.Val78=)
c.415C>A (p.His139Asn)
 gnomAD v4
Xg.20188513A>CCA515610666RPS6KA3c.615T>G (p.Gly205=)
c.528T>G (p.Gly176=)
c.531T>G (p.Gly177=)
c.233T>G (p.Val78Gly)
c.414T>G (p.Gly138=)
Xg.20188513A>GCA515610669RPS6KA3c.615T>C (p.Gly205=)
c.528T>C (p.Gly176=)
c.531T>C (p.Gly177=)
c.233T>C (p.Val78Ala)
c.414T>C (p.Gly138=)
 gnomAD v4
Xg.20188513A>TCA515610667RPS6KA3c.615T>A (p.Gly205=)
c.528T>A (p.Gly176=)
c.531T>A (p.Gly177=)
c.233T>A (p.Val78Asp)
c.414T>A (p.Gly138=)
 gnomAD v4
Xg.20188514C>ACA412508854RPS6KA3c.614G>T (p.Gly205Val)
c.527G>T (p.Gly176Val)
c.530G>T (p.Gly177Val)
c.232G>T (p.Val78Phe)
c.413G>T (p.Gly138Val)
Xg.20188514C>GCA412508856RPS6KA3c.614G>C (p.Gly205Ala)
c.527G>C (p.Gly176Ala)
c.530G>C (p.Gly177Ala)
c.232G>C (p.Val78Leu)
c.413G>C (p.Gly138Ala)
 gnomAD v4
Xg.20188514C>TCA412508858RPS6KA3c.614G>A (p.Gly205Asp)
c.527G>A (p.Gly176Asp)
c.530G>A (p.Gly177Asp)
c.232G>A (p.Val78Ile)
c.413G>A (p.Gly138Asp)
 gnomAD v4
Xg.20188514_20188516delCA2573055203RPS6KA3c.612_614del (p.Glu204_Gly205delinsAsp)
c.525_527del (p.Glu175_Gly176delinsAsp)
c.528_530del (p.Glu176_Gly177delinsAsp)
c.230_232del (p.Lys77_Val78delinsIle)
c.411_413del (p.Glu137_Gly138delinsAsp)
 ClinVar dbSNP
Xg.20188514_20188517delinsCCTTCA2418513533RPS6KA3c.611_614delinsAAGG (p.Glu204=)
c.524_527delinsAAGG (p.Glu175=)
c.527_530delinsAAGG (p.Glu176=)
c.229_232delinsAAGG (p.Lys77=)
c.410_413delinsAAGG (p.Glu137=)
Xg.20188515C>ACA412508859RPS6KA3c.613G>T (p.Gly205Cys)
c.526G>T (p.Gly176Cys)
c.529G>T (p.Gly177Cys)
c.231G>T (p.Lys77Asn)
c.412G>T (p.Gly138Cys)
 gnomAD v4
Xg.20188515C>GCA412508861RPS6KA3c.613G>C (p.Gly205Arg)
c.526G>C (p.Gly176Arg)
c.529G>C (p.Gly177Arg)
c.231G>C (p.Lys77Asn)
c.412G>C (p.Gly138Arg)
Xg.20188515C>TCA412508860RPS6KA3c.613G>A (p.Gly205Ser)
c.526G>A (p.Gly176Ser)
c.529G>A (p.Gly177Ser)
c.231G>A (p.Lys77=)
c.412G>A (p.Gly138Ser)
 gnomAD v4
Xg.20188519_20188521delCA658799619RPS6KA3c.611_613del (p.Glu204del)
c.524_526del (p.Glu175del)
c.527_529del (p.Glu176del)
c.229_231del (p.Lys77del)
c.410_412del (p.Glu137del)
 ClinVar dbSNP
Xg.20188516T>ACA412508863RPS6KA3c.612A>T (p.Glu204Asp)
c.525A>T (p.Glu175Asp)
c.528A>T (p.Glu176Asp)
c.230A>T (p.Lys77Met)
c.411A>T (p.Glu137Asp)
 gnomAD v4
Xg.20188516T>CCA515610671RPS6KA3c.612A>G (p.Glu204=)
c.525A>G (p.Glu175=)
c.528A>G (p.Glu176=)
c.230A>G (p.Lys77Arg)
c.411A>G (p.Glu137=)
 gnomAD v4
Xg.20188516T>GCA412508874RPS6KA3c.612A>C (p.Glu204Asp)
c.525A>C (p.Glu175Asp)
c.528A>C (p.Glu176Asp)
c.230A>C (p.Lys77Thr)
c.411A>C (p.Glu137Asp)
Xg.20188517delCA2693278622RPS6KA3c.612del (p.Gly205ValfsTer5)
c.525del (p.Gly176ValfsTer5)
c.528del (p.Gly177ValfsTer5)
c.230del (p.Lys77ArgfsTer12)
c.411del (p.Gly138ValfsTer5)
 gnomAD v4
Xg.20188517T>ACA412508877RPS6KA3c.611A>T (p.Glu204Val)
c.524A>T (p.Glu175Val)
c.527A>T (p.Glu176Val)
c.229A>T (p.Lys77Ter)
c.410A>T (p.Glu137Val)
 gnomAD v4
Xg.20188517T>CCA412508880RPS6KA3c.611A>G (p.Glu204Gly)
c.524A>G (p.Glu175Gly)
c.527A>G (p.Glu176Gly)
c.229A>G (p.Lys77Glu)
c.410A>G (p.Glu137Gly)
 gnomAD v4
Xg.20188517T>GCA412508878RPS6KA3c.611A>C (p.Glu204Ala)
c.524A>C (p.Glu175Ala)
c.527A>C (p.Glu176Ala)
c.229A>C (p.Lys77Gln)
c.410A>C (p.Glu137Ala)
Xg.20188518C>ACA412508882RPS6KA3c.610G>T (p.Glu204Ter)
c.523G>T (p.Glu175Ter)
c.526G>T (p.Glu176Ter)
c.228G>T (p.Lys76Asn)
c.409G>T (p.Glu137Ter)
 gnomAD v4
Xg.20188518C>GCA412508884RPS6KA3c.610G>C (p.Glu204Gln)
c.523G>C (p.Glu175Gln)
c.526G>C (p.Glu176Gln)
c.228G>C (p.Lys76Asn)
c.409G>C (p.Glu137Gln)
Xg.20188518C>TCA412508885RPS6KA3c.610G>A (p.Glu204Lys)
c.523G>A (p.Glu175Lys)
c.526G>A (p.Glu176Lys)
c.228G>A (p.Lys76=)
c.409G>A (p.Glu137Lys)
 gnomAD v4
Xg.20188519T>ACA412508887RPS6KA3c.609A>T (p.Glu203Asp)
c.522A>T (p.Glu174Asp)
c.525A>T (p.Glu175Asp)
c.227A>T (p.Lys76Met)
c.408A>T (p.Glu136Asp)
 gnomAD v4
Xg.20188519T>CCA515610675RPS6KA3c.609A>G (p.Glu203=)
c.522A>G (p.Glu174=)
c.525A>G (p.Glu175=)
c.227A>G (p.Lys76Arg)
c.408A>G (p.Glu136=)
 gnomAD v4
Xg.20188519T>GCA412508889RPS6KA3c.609A>C (p.Glu203Asp)
c.522A>C (p.Glu174Asp)
c.525A>C (p.Glu175Asp)
c.227A>C (p.Lys76Thr)
c.408A>C (p.Glu136Asp)
Xg.20188519_20188522delinsTTCACA2418513534RPS6KA3c.606_609delinsTGAA (p.Asp202=)
c.519_522delinsTGAA (p.Asp173=)
c.522_525delinsTGAA (p.Asp174=)
c.224_227delinsTGAA (p.Met75=)
c.405_408delinsTGAA (p.Asp135=)
Xg.20188520T>ACA412508904RPS6KA3c.608A>T (p.Glu203Val)
c.521A>T (p.Glu174Val)
c.524A>T (p.Glu175Val)
c.226A>T (p.Lys76Ter)
c.407A>T (p.Glu136Val)
Xg.20188520T>CCA412508902RPS6KA3c.608A>G (p.Glu203Gly)
c.521A>G (p.Glu174Gly)
c.524A>G (p.Glu175Gly)
c.226A>G (p.Lys76Glu)
c.407A>G (p.Glu136Gly)
 ClinVar gnomAD v4
Xg.20188520T>GCA412508893RPS6KA3c.608A>C (p.Glu203Ala)
c.521A>C (p.Glu174Ala)
c.524A>C (p.Glu175Ala)
c.226A>C (p.Lys76Gln)
c.407A>C (p.Glu136Ala)
Xg.20188523_20188525delCA10603613RPS6KA3c.606_608del (p.Asp202del)
c.519_521del (p.Asp173del)
c.522_524del (p.Asp174del)
c.224_226del (p.Met75del)
c.405_407del (p.Asp135del)
 ClinVar dbSNP
Xg.20188521C>ACA412508905RPS6KA3c.607G>T (p.Glu203Ter)
c.520G>T (p.Glu174Ter)
c.523G>T (p.Glu175Ter)
c.225G>T (p.Met75Ile)
c.406G>T (p.Glu136Ter)
 gnomAD v4
Xg.20188521C>GCA412508906RPS6KA3c.607G>C (p.Glu203Gln)
c.520G>C (p.Glu174Gln)
c.523G>C (p.Glu175Gln)
c.225G>C (p.Met75Ile)
c.406G>C (p.Glu136Gln)
Xg.20188521C>TCA412508907RPS6KA3c.607G>A (p.Glu203Lys)
c.520G>A (p.Glu174Lys)
c.523G>A (p.Glu175Lys)
c.225G>A (p.Met75Ile)
c.406G>A (p.Glu136Lys)
 gnomAD v4
Xg.20188522A>CCA412508908RPS6KA3c.606T>G (p.Asp202Glu)
c.519T>G (p.Asp173Glu)
c.522T>G (p.Asp174Glu)
c.224T>G (p.Met75Arg)
c.405T>G (p.Asp135Glu)
Xg.20188522A>GCA515610679RPS6KA3c.606T>C (p.Asp202=)
c.519T>C (p.Asp173=)
c.522T>C (p.Asp174=)
c.224T>C (p.Met75Thr)
c.405T>C (p.Asp135=)
 gnomAD v4
Xg.20188522A>TCA412508910RPS6KA3c.606T>A (p.Asp202Glu)
c.519T>A (p.Asp173Glu)
c.522T>A (p.Asp174Glu)
c.224T>A (p.Met75Lys)
c.405T>A (p.Asp135Glu)
 gnomAD v4
Xg.20188523T>ACA412508914RPS6KA3c.605A>T (p.Asp202Val)
c.518A>T (p.Asp173Val)
c.521A>T (p.Asp174Val)
c.223A>T (p.Met75Leu)
c.404A>T (p.Asp135Val)
 gnomAD v4
Xg.20188523T>CCA412508912RPS6KA3c.605A>G (p.Asp202Gly)
c.518A>G (p.Asp173Gly)
c.521A>G (p.Asp174Gly)
c.223A>G (p.Met75Val)
c.404A>G (p.Asp135Gly)
 gnomAD v4
Xg.20188523T>GCA412508913RPS6KA3c.605A>C (p.Asp202Ala)
c.518A>C (p.Asp173Ala)
c.521A>C (p.Asp174Ala)
c.223A>C (p.Met75Leu)
c.404A>C (p.Asp135Ala)
Xg.20188524delCA2693278636RPS6KA3c.604del (p.Asp202MetfsTer8)
c.517del (p.Asp173MetfsTer8)
c.520del (p.Asp174MetfsTer8)
c.222del (p.Met75Ter)
c.403del (p.Asp135MetfsTer8)
 gnomAD v4
Xg.20188524C>ACA412508915RPS6KA3c.604G>T (p.Asp202Tyr)
c.517G>T (p.Asp173Tyr)
c.520G>T (p.Asp174Tyr)
c.222G>T (p.Leu74Phe)
c.403G>T (p.Asp135Tyr)
 gnomAD v4
Xg.20188524C>GCA412508917RPS6KA3c.604G>C (p.Asp202His)
c.517G>C (p.Asp173His)
c.520G>C (p.Asp174His)
c.222G>C (p.Leu74Phe)
c.403G>C (p.Asp135His)
Xg.20188524C>TCA412508919RPS6KA3c.604G>A (p.Asp202Asn)
c.517G>A (p.Asp173Asn)
c.520G>A (p.Asp174Asn)
c.222G>A (p.Leu74=)
c.403G>A (p.Asp135Asn)
 gnomAD v4
Xg.20188525A>CCA515610685RPS6KA3c.603T>G (p.Leu201=)
c.516T>G (p.Leu172=)
c.519T>G (p.Leu173=)
c.221T>G (p.Leu74Trp)
c.402T>G (p.Leu134=)
Xg.20188525A>GCA515610686RPS6KA3c.603T>C (p.Leu201=)
c.516T>C (p.Leu172=)
c.519T>C (p.Leu173=)
c.221T>C (p.Leu74Ser)
c.402T>C (p.Leu134=)
 gnomAD v4
Xg.20188525A>TCA515610687RPS6KA3c.603T>A (p.Leu201=)
c.516T>A (p.Leu172=)
c.519T>A (p.Leu173=)
c.221T>A (p.Leu74Ter)
c.402T>A (p.Leu134=)
Xg.20188526delCA2693278639RPS6KA3c.603del (p.Asp202MetfsTer8)
c.516del (p.Asp173MetfsTer8)
c.519del (p.Asp174MetfsTer8)
c.221del (p.Leu74Ter)
c.402del (p.Asp135MetfsTer8)
 gnomAD v4
Xg.20188528_20188530delCA2695231414RPS6KA3c.601_603del (p.Leu201del)
c.514_516del (p.Leu172del)
c.517_519del (p.Leu173del)
c.219_221del (p.Phe73del)
c.400_402del (p.Leu134del)
Xg.20188526A>CCA412508920RPS6KA3c.602T>G (p.Leu201Arg)
c.515T>G (p.Leu172Arg)
c.518T>G (p.Leu173Arg)
c.220T>G (p.Leu74Val)
c.401T>G (p.Leu134Arg)
Xg.20188526A>GCA412508924RPS6KA3c.602T>C (p.Leu201Pro)
c.515T>C (p.Leu172Pro)
c.518T>C (p.Leu173Pro)
c.220T>C (p.Leu74=)
c.401T>C (p.Leu134Pro)
 gnomAD v4 COSMIC
Xg.20188526A>TCA412508926RPS6KA3c.602T>A (p.Leu201His)
c.515T>A (p.Leu172His)
c.518T>A (p.Leu173His)
c.220T>A (p.Leu74Met)
c.401T>A (p.Leu134His)
 gnomAD v4
Xg.20188527G>ACA412508931RPS6KA3c.601C>T (p.Leu201Phe)
c.514C>T (p.Leu172Phe)
c.517C>T (p.Leu173Phe)
c.219C>T (p.Phe73=)
c.400C>T (p.Leu134Phe)
 gnomAD v4
Xg.20188527G>CCA412508934RPS6KA3c.601C>G (p.Leu201Val)
c.514C>G (p.Leu172Val)
c.517C>G (p.Leu173Val)
c.219C>G (p.Phe73Leu)
c.400C>G (p.Leu134Val)
Xg.20188527G>TCA412508936RPS6KA3c.601C>A (p.Leu201Ile)
c.514C>A (p.Leu172Ile)
c.517C>A (p.Leu173Ile)
c.219C>A (p.Phe73Leu)
c.400C>A (p.Leu134Ile)
 gnomAD v4
Xg.20188528A>CCA515610691RPS6KA3c.600T>G (p.Leu200=)
c.513T>G (p.Leu171=)
c.516T>G (p.Leu172=)
c.218T>G (p.Phe73Cys)
c.399T>G (p.Leu133=)
Xg.20188528A>GCA515610693RPS6KA3c.600T>C (p.Leu200=)
c.513T>C (p.Leu171=)
c.516T>C (p.Leu172=)
c.218T>C (p.Phe73Ser)
c.399T>C (p.Leu133=)
 gnomAD v4
Xg.20188528A>TCA515610692RPS6KA3c.600T>A (p.Leu200=)
c.513T>A (p.Leu171=)
c.516T>A (p.Leu172=)
c.218T>A (p.Phe73Tyr)
c.399T>A (p.Leu133=)
 gnomAD v4
Xg.20188529A>CCA412508940RPS6KA3c.599T>G (p.Leu200Arg)
c.512T>G (p.Leu171Arg)
c.515T>G (p.Leu172Arg)
c.217T>G (p.Phe73Val)
c.398T>G (p.Leu133Arg)
Xg.20188529A>GCA412508944RPS6KA3c.599T>C (p.Leu200Pro)
c.512T>C (p.Leu171Pro)
c.515T>C (p.Leu172Pro)
c.217T>C (p.Phe73Leu)
c.398T>C (p.Leu133Pro)
 gnomAD v4
Xg.20188529A>TCA412508948RPS6KA3c.599T>A (p.Leu200His)
c.512T>A (p.Leu171His)
c.515T>A (p.Leu172His)
c.217T>A (p.Phe73Ile)
c.398T>A (p.Leu133His)
 gnomAD v4
Xg.20188530G>ACA412508954RPS6KA3c.598C>T (p.Leu200Phe)
c.511C>T (p.Leu171Phe)
c.514C>T (p.Leu172Phe)
c.216C>T (p.Tyr72=)
c.397C>T (p.Leu133Phe)
 gnomAD v4
Xg.20188530G>CCA412508958RPS6KA3c.598C>G (p.Leu200Val)
c.511C>G (p.Leu171Val)
c.514C>G (p.Leu172Val)
c.216C>G (p.Tyr72Ter)
c.397C>G (p.Leu133Val)
Xg.20188530G>TCA412508957RPS6KA3c.598C>A (p.Leu200Ile)
c.511C>A (p.Leu171Ile)
c.514C>A (p.Leu172Ile)
c.216C>A (p.Tyr72Ter)
c.397C>A (p.Leu133Ile)
 gnomAD v4 COSMIC
Xg.20188531T>ACA515610697RPS6KA3c.597A>T (p.Ile199=)
c.510A>T (p.Ile170=)
c.513A>T (p.Ile171=)
c.215A>T (p.Tyr72Phe)
c.396A>T (p.Ile132=)
 gnomAD v4
Xg.20188531T>CCA412508959RPS6KA3c.597A>G (p.Ile199Met)
c.510A>G (p.Ile170Met)
c.513A>G (p.Ile171Met)
c.215A>G (p.Tyr72Cys)
c.396A>G (p.Ile132Met)
 gnomAD v4
Xg.20188531T>GCA515610698RPS6KA3c.597A>C (p.Ile199=)
c.510A>C (p.Ile170=)
c.513A>C (p.Ile171=)
c.215A>C (p.Tyr72Ser)
c.396A>C (p.Ile132=)
Xg.20188532A>CCA412508960RPS6KA3c.596T>G (p.Ile199Arg)
c.509T>G (p.Ile170Arg)
c.512T>G (p.Ile171Arg)
c.214T>G (p.Tyr72Asp)
c.395T>G (p.Ile132Arg)
Xg.20188532A>GCA412508961RPS6KA3c.596T>C (p.Ile199Thr)
c.509T>C (p.Ile170Thr)
c.512T>C (p.Ile171Thr)
c.214T>C (p.Tyr72His)
c.395T>C (p.Ile132Thr)
 gnomAD v4
Xg.20188532A>TCA412508963RPS6KA3c.596T>A (p.Ile199Lys)
c.509T>A (p.Ile170Lys)
c.512T>A (p.Ile171Lys)
c.214T>A (p.Tyr72Asn)
c.395T>A (p.Ile132Lys)
 gnomAD v4
Xg.20188533T>ACA412508967RPS6KA3c.595A>T (p.Ile199Leu)
c.508A>T (p.Ile170Leu)
c.511A>T (p.Ile171Leu)
c.213A>T (p.Val71=)
c.394A>T (p.Ile132Leu)
 gnomAD v4
Xg.20188533T>CCA412508971RPS6KA3c.595A>G (p.Ile199Val)
c.508A>G (p.Ile170Val)
c.511A>G (p.Ile171Val)
c.213A>G (p.Val71=)
c.394A>G (p.Ile132Val)
 gnomAD v4
Xg.20188533T>GCA412508973RPS6KA3c.595A>C (p.Ile199Leu)
c.508A>C (p.Ile170Leu)
c.511A>C (p.Ile171Leu)
c.213A>C (p.Val71=)
c.394A>C (p.Ile132Leu)
Xg.20188534A=CA2418513535RPS6KA3c.594T= (p.Asn198=)
c.507T= (p.Asn169=)
c.510T= (p.Asn170=)
c.212T= (p.Val71=)
c.393T= (p.Asn131=)
Xg.20188534A>CCA412508975RPS6KA3c.594T>G (p.Asn198Lys)
c.507T>G (p.Asn169Lys)
c.510T>G (p.Asn170Lys)
c.212T>G (p.Val71Gly)
c.393T>G (p.Asn131Lys)
Xg.20188534A>GCA515610701RPS6KA3c.594T>C (p.Asn198=)
c.507T>C (p.Asn169=)
c.510T>C (p.Asn170=)
c.212T>C (p.Val71Ala)
c.393T>C (p.Asn131=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.20188534A>TCA412508979RPS6KA3c.594T>A (p.Asn198Lys)
c.507T>A (p.Asn169Lys)
c.510T>A (p.Asn170Lys)
c.212T>A (p.Val71Glu)
c.393T>A (p.Asn131Lys)
 gnomAD v4
Xg.20188535C>ACA412508985RPS6KA3c.594-1G>T (n.594-1G>T)
c.507-1G>T (n.507-1G>T)
c.510-1G>T (n.510-1G>T)
c.212-1G>T (n.212-1G>T)
c.393-1G>T (n.393-1G>T)
 gnomAD v3 gnomAD v4
Xg.20188535C=CA2418513536RPS6KA3c.594-1G= (n.594-1G=)
c.507-1G= (n.507-1G=)
c.510-1G= (n.510-1G=)
c.212-1G= (n.212-1G=)
c.393-1G= (n.393-1G=)
Xg.20188535C>GCA412508991RPS6KA3c.594-1G>C (n.594-1G>C)
c.507-1G>C (n.507-1G>C)
c.510-1G>C (n.510-1G>C)
c.212-1G>C (n.212-1G>C)
c.393-1G>C (n.393-1G>C)
 COSMIC
Xg.20188535C>TCA327475823RPS6KA3c.594-1G>A (n.594-1G>A)
c.507-1G>A (n.507-1G>A)
c.510-1G>A (n.510-1G>A)
c.212-1G>A (n.212-1G>A)
c.393-1G>A (n.393-1G>A)
 dbSNP gnomAD v4
Xg.20188536T>ACA412508998RPS6KA3c.594-2A>T (n.594-2A>T)
c.507-2A>T (n.507-2A>T)
c.510-2A>T (n.510-2A>T)
c.212-2A>T (n.212-2A>T)
c.393-2A>T (n.393-2A>T)
 gnomAD v4
Xg.20188536T>CCA412508994RPS6KA3c.594-2A>G (n.594-2A>G)
c.507-2A>G (n.507-2A>G)
c.510-2A>G (n.510-2A>G)
c.212-2A>G (n.212-2A>G)
c.393-2A>G (n.393-2A>G)
 gnomAD v4
Xg.20188536T>GCA412508996RPS6KA3c.594-2A>C (n.594-2A>C)
c.507-2A>C (n.507-2A>C)
c.510-2A>C (n.510-2A>C)
c.212-2A>C (n.212-2A>C)
c.393-2A>C (n.393-2A>C)
Xg.20188537G>ACA2418513539RPS6KA3c.594-3C>T (n.594-3C>T)
c.507-3C>T (n.507-3C>T)
c.510-3C>T (n.510-3C>T)
c.212-3C>T (n.212-3C>T)
c.393-3C>T (n.393-3C>T)
 dbSNP gnomAD v4
Xg.20188537G=CA2418513538RPS6KA3c.594-3C= (n.594-3C=)
c.507-3C= (n.507-3C=)
c.510-3C= (n.510-3C=)
c.212-3C= (n.212-3C=)
c.393-3C= (n.393-3C=)
Xg.20188537G>TCA2579569528RPS6KA3c.594-3C>A (n.594-3C>A)
c.507-3C>A (n.507-3C>A)
c.510-3C>A (n.510-3C>A)
c.212-3C>A (n.212-3C>A)
c.393-3C>A (n.393-3C>A)
 gnomAD v4
Xg.20188537_20188538delinsGACA2418513537RPS6KA3c.594-4_594-3delinsTC (n.594-4_594-3delinsTC)
c.507-4_507-3delinsTC (n.507-4_507-3delinsTC)
c.510-4_510-3delinsTC (n.510-4_510-3delinsTC)
c.212-4_212-3delinsTC (n.212-4_212-3delinsTC)
c.393-4_393-3delinsTC (n.393-4_393-3delinsTC)
Xg.20188538A>GCA2693278668RPS6KA3c.594-4T>C (n.594-4T>C)
c.507-4T>C (n.507-4T>C)
c.510-4T>C (n.510-4T>C)
c.212-4T>C (n.212-4T>C)
c.393-4T>C (n.393-4T>C)
 gnomAD v4
Xg.20188544dupCA10366247RPS6KA3c.594-4dup (n.594-4dup)
c.507-4dup (n.507-4dup)
c.510-4dup (n.510-4dup)
c.212-4dup (n.212-4dup)
c.393-4dup (n.393-4dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.20188544delCA640838980RPS6KA3c.594-4del (n.594-4del)
c.507-4del (n.507-4del)
c.510-4del (n.510-4del)
c.212-4del (n.212-4del)
c.393-4del (n.393-4del)
 dbSNP gnomAD v2 gnomAD v4
Xg.20188539A>GCA2693278671RPS6KA3c.594-5T>C (n.594-5T>C)
c.507-5T>C (n.507-5T>C)
c.510-5T>C (n.510-5T>C)
c.212-5T>C (n.212-5T>C)
c.393-5T>C (n.393-5T>C)
 gnomAD v4
Xg.20188540A>GCA2693278673RPS6KA3c.594-6T>C (n.594-6T>C)
c.507-6T>C (n.507-6T>C)
c.510-6T>C (n.510-6T>C)
c.212-6T>C (n.212-6T>C)
c.393-6T>C (n.393-6T>C)
 gnomAD v4
Xg.20188541A=CA2418513540RPS6KA3c.594-7T= (n.594-7T=)
c.507-7T= (n.507-7T=)
c.510-7T= (n.510-7T=)
c.212-7T= (n.212-7T=)
c.393-7T= (n.393-7T=)
Xg.20188541A>GCA640838982RPS6KA3c.594-7T>C (n.594-7T>C)
c.507-7T>C (n.507-7T>C)
c.510-7T>C (n.510-7T>C)
c.212-7T>C (n.212-7T>C)
c.393-7T>C (n.393-7T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.20188542A>GCA2693278675RPS6KA3c.594-8T>C (n.594-8T>C)
c.507-8T>C (n.507-8T>C)
c.510-8T>C (n.510-8T>C)
c.212-8T>C (n.212-8T>C)
c.393-8T>C (n.393-8T>C)
 gnomAD v4
Xg.20188543A>GCA2693278676RPS6KA3c.594-9T>C (n.594-9T>C)
c.507-9T>C (n.507-9T>C)
c.510-9T>C (n.510-9T>C)
c.212-9T>C (n.212-9T>C)
c.393-9T>C (n.393-9T>C)
 gnomAD v4
Xg.20188544A=CA2418513541RPS6KA3c.594-10T= (n.594-10T=)
c.507-10T= (n.507-10T=)
c.510-10T= (n.510-10T=)
c.212-10T= (n.212-10T=)
c.393-10T= (n.393-10T=)
Xg.20188544A>CCA2693278678RPS6KA3c.594-10T>G (n.594-10T>G)
c.507-10T>G (n.507-10T>G)
c.510-10T>G (n.510-10T>G)
c.212-10T>G (n.212-10T>G)
c.393-10T>G (n.393-10T>G)
 gnomAD v4
Xg.20188544A>GCA2418513542RPS6KA3c.594-10T>C (n.594-10T>C)
c.507-10T>C (n.507-10T>C)
c.510-10T>C (n.510-10T>C)
c.212-10T>C (n.212-10T>C)
c.393-10T>C (n.393-10T>C)
 dbSNP gnomAD v4
Xg.20188545C>ACA2693278680RPS6KA3c.594-11G>T (n.594-11G>T)
c.507-11G>T (n.507-11G>T)
c.510-11G>T (n.510-11G>T)
c.212-11G>T (n.212-11G>T)
c.393-11G>T (n.393-11G>T)
 gnomAD v4
Xg.20188546A>GCA2693278684RPS6KA3c.594-12T>C (n.594-12T>C)
c.507-12T>C (n.507-12T>C)
c.510-12T>C (n.510-12T>C)
c.212-12T>C (n.212-12T>C)
c.393-12T>C (n.393-12T>C)
 gnomAD v4
Xg.20188549_20188552delCA2693278682RPS6KA3c.594-15_594-12del (n.594-15_594-12del)
c.507-15_507-12del (n.507-15_507-12del)
c.510-15_510-12del (n.510-15_510-12del)
c.212-15_212-12del (n.212-15_212-12del)
c.393-15_393-12del (n.393-15_393-12del)
 gnomAD v4
Xg.20188547A=CA2418513543RPS6KA3c.594-13T= (n.594-13T=)
c.507-13T= (n.507-13T=)
c.510-13T= (n.510-13T=)
c.212-13T= (n.212-13T=)
c.393-13T= (n.393-13T=)
Xg.20188547A>CCA2693278687RPS6KA3c.594-13T>G (n.594-13T>G)
c.507-13T>G (n.507-13T>G)
c.510-13T>G (n.510-13T>G)
c.212-13T>G (n.212-13T>G)
c.393-13T>G (n.393-13T>G)
 gnomAD v4
Xg.20188547A>GCA2693278688RPS6KA3c.594-13T>C (n.594-13T>C)
c.507-13T>C (n.507-13T>C)
c.510-13T>C (n.510-13T>C)
c.212-13T>C (n.212-13T>C)
c.393-13T>C (n.393-13T>C)
 gnomAD v4
Xg.20188547A>TCA2418513544RPS6KA3c.594-13T>A (n.594-13T>A)
c.507-13T>A (n.507-13T>A)
c.510-13T>A (n.510-13T>A)
c.212-13T>A (n.212-13T>A)
c.393-13T>A (n.393-13T>A)
 dbSNP
Xg.20188548A>GCA2693278690RPS6KA3c.594-14T>C (n.594-14T>C)
c.507-14T>C (n.507-14T>C)
c.510-14T>C (n.510-14T>C)
c.212-14T>C (n.212-14T>C)
c.393-14T>C (n.393-14T>C)
 gnomAD v4
Xg.20188549G>ACA2693278693RPS6KA3c.594-15C>T (n.594-15C>T)
c.507-15C>T (n.507-15C>T)
c.510-15C>T (n.510-15C>T)
c.212-15C>T (n.212-15C>T)
c.393-15C>T (n.393-15C>T)
 gnomAD v4
Xg.20188549G=CA2418513545RPS6KA3c.594-15C= (n.594-15C=)
c.507-15C= (n.507-15C=)
c.510-15C= (n.510-15C=)
c.212-15C= (n.212-15C=)
c.393-15C= (n.393-15C=)
Xg.20188549G>TCA640838984RPS6KA3c.594-15C>A (n.594-15C>A)
c.507-15C>A (n.507-15C>A)
c.510-15C>A (n.510-15C>A)
c.212-15C>A (n.212-15C>A)
c.393-15C>A (n.393-15C>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.20188550A>GCA2693278695RPS6KA3c.594-16T>C (n.594-16T>C)
c.507-16T>C (n.507-16T>C)
c.510-16T>C (n.510-16T>C)
c.212-16T>C (n.212-16T>C)
c.393-16T>C (n.393-16T>C)
 gnomAD v4
Xg.20188551A>GCA2693278697RPS6KA3c.594-17T>C (n.594-17T>C)
c.507-17T>C (n.507-17T>C)
c.510-17T>C (n.510-17T>C)
c.212-17T>C (n.212-17T>C)
c.393-17T>C (n.393-17T>C)
 gnomAD v4
Xg.20188552A>GCA2693278699RPS6KA3c.594-18T>C (n.594-18T>C)
c.507-18T>C (n.507-18T>C)
c.510-18T>C (n.510-18T>C)
c.212-18T>C (n.212-18T>C)
c.393-18T>C (n.393-18T>C)
 ClinVar gnomAD v4

Number of alleles fetched