Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.94478672C=CA1992436289MRE11c.544+63G= (n.544+63G=)
c.553+63G= (n.553+63G=)
c.76+63G= (n.76+63G=)
n.840+63G=
11g.94478672C>GCA682070464MRE11c.544+63G>C (n.544+63G>C)
c.553+63G>C (n.553+63G>C)
c.76+63G>C (n.76+63G>C)
n.840+63G>C
 dbSNP gnomAD v3 gnomAD v4
11g.94478672C>TCA2615589924MRE11c.544+63G>A (n.544+63G>A)
c.553+63G>A (n.553+63G>A)
c.76+63G>A (n.76+63G>A)
n.840+63G>A
 gnomAD v4
11g.94478675A>GCA2615589925MRE11c.544+60T>C (n.544+60T>C)
c.553+60T>C (n.553+60T>C)
c.76+60T>C (n.76+60T>C)
n.840+60T>C
 gnomAD v4
11g.94478676T>CCA1992436292MRE11c.544+59A>G (n.544+59A>G)
c.553+59A>G (n.553+59A>G)
c.76+59A>G (n.76+59A>G)
n.840+59A>G
 dbSNP gnomAD v4
11g.94478676T=CA1992436291MRE11c.544+59A= (n.544+59A=)
c.553+59A= (n.553+59A=)
c.76+59A= (n.76+59A=)
n.840+59A=
11g.94478677T>CCA600841910MRE11c.544+58A>G (n.544+58A>G)
c.553+58A>G (n.553+58A>G)
c.76+58A>G (n.76+58A>G)
n.840+58A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.94478677T=CA1992436294MRE11c.544+58A= (n.544+58A=)
c.553+58A= (n.553+58A=)
c.76+58A= (n.76+58A=)
n.840+58A=
11g.94478679C=CA1992436296MRE11c.544+56G= (n.544+56G=)
c.553+56G= (n.553+56G=)
c.76+56G= (n.76+56G=)
n.840+56G=
11g.94478679C>TCA226537269MRE11c.544+56G>A (n.544+56G>A)
c.553+56G>A (n.553+56G>A)
c.76+56G>A (n.76+56G>A)
n.840+56G>A
 dbSNP gnomAD v4
11g.94478680T>CCA2615589926MRE11c.544+55A>G (n.544+55A>G)
c.553+55A>G (n.553+55A>G)
c.76+55A>G (n.76+55A>G)
n.840+55A>G
 gnomAD v4
11g.94478681C>GCA2615589927MRE11c.544+54G>C (n.544+54G>C)
c.553+54G>C (n.553+54G>C)
c.76+54G>C (n.76+54G>C)
n.840+54G>C
 gnomAD v4
11g.94478683A=CA1992436302MRE11c.544+52T= (n.544+52T=)
c.553+52T= (n.553+52T=)
c.76+52T= (n.76+52T=)
n.840+52T=
11g.94478683A>GCA941025228MRE11c.544+52T>C (n.544+52T>C)
c.553+52T>C (n.553+52T>C)
c.76+52T>C (n.76+52T>C)
n.840+52T>C
 dbSNP gnomAD v3 gnomAD v4
11g.94478684T>CCA476286836MRE11c.544+51A>G (n.544+51A>G)
c.553+51A>G (n.553+51A>G)
c.76+51A>G (n.76+51A>G)
n.840+51A>G
 gnomAD v4
11g.94478685T>CCA2615589928MRE11c.544+50A>G (n.544+50A>G)
c.553+50A>G (n.553+50A>G)
c.76+50A>G (n.76+50A>G)
n.840+50A>G
 gnomAD v4
11g.94478686G>TCA2615589929MRE11c.544+49C>A (n.544+49C>A)
c.553+49C>A (n.553+49C>A)
c.76+49C>A (n.76+49C>A)
n.840+49C>A
 gnomAD v4
11g.94478688T=CA1992436304MRE11c.544+47A= (n.544+47A=)
c.553+47A= (n.553+47A=)
c.76+47A= (n.76+47A=)
n.840+47A=
11g.94478689T>CCA1992436322MRE11c.544+46A>G (n.544+46A>G)
c.553+46A>G (n.553+46A>G)
c.76+46A>G (n.76+46A>G)
n.840+46A>G
 dbSNP gnomAD v4
11g.94478689T=CA1992436320MRE11c.544+46A= (n.544+46A=)
c.553+46A= (n.553+46A=)
c.76+46A= (n.76+46A=)
n.840+46A=
11g.94478689_94478690dupCA600841912MRE11c.544+45_544+46dup (n.544+45_544+46dup)
c.553+45_553+46dup (n.553+45_553+46dup)
c.76+45_76+46dup (n.76+45_76+46dup)
n.840+45_840+46dup
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.94478690A>GCA2615589931MRE11c.544+45T>C (n.544+45T>C)
c.553+45T>C (n.553+45T>C)
c.76+45T>C (n.76+45T>C)
n.840+45T>C
 gnomAD v4
11g.94478690A>TCA2574952697MRE11c.544+45T>A (n.544+45T>A)
c.553+45T>A (n.553+45T>A)
c.76+45T>A (n.76+45T>A)
n.840+45T>A
11g.94478692A>TCA2793218253MRE11c.544+43T>A (n.544+43T>A)
c.553+43T>A (n.553+43T>A)
c.76+43T>A (n.76+43T>A)
n.840+43T>A
11g.94478693G>CCA682070470MRE11c.544+42C>G (n.544+42C>G)
c.553+42C>G (n.553+42C>G)
c.76+42C>G (n.76+42C>G)
n.840+42C>G
 dbSNP gnomAD v3 gnomAD v4
11g.94478693G=CA1992436331MRE11c.544+42C= (n.544+42C=)
c.553+42C= (n.553+42C=)
c.76+42C= (n.76+42C=)
n.840+42C=
11g.94478694A>GCA2615589935MRE11c.544+41T>C (n.544+41T>C)
c.553+41T>C (n.553+41T>C)
c.76+41T>C (n.76+41T>C)
n.840+41T>C
 gnomAD v4
11g.94478695delCA2574952698MRE11c.544+41del (n.544+41del)
c.553+41del (n.553+41del)
c.76+41del (n.76+41del)
n.840+41del
 gnomAD v4
11g.94478696T>CCA6235371MRE11c.544+39A>G (n.544+39A>G)
c.553+39A>G (n.553+39A>G)
c.76+39A>G (n.76+39A>G)
n.840+39A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94478696T=CA1992436338MRE11c.544+39A= (n.544+39A=)
c.553+39A= (n.553+39A=)
c.76+39A= (n.76+39A=)
n.840+39A=
11g.94478697C>ACA600841913MRE11c.544+38G>T (n.544+38G>T)
c.553+38G>T (n.553+38G>T)
c.76+38G>T (n.76+38G>T)
n.840+38G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.94478697C=CA1992436342MRE11c.544+38G= (n.544+38G=)
c.553+38G= (n.553+38G=)
c.76+38G= (n.76+38G=)
n.840+38G=
11g.94478697C>TCA2724610603MRE11c.544+38G>A (n.544+38G>A)
c.553+38G>A (n.553+38G>A)
c.76+38G>A (n.76+38G>A)
n.840+38G>A
 dbSNP
11g.94478699C>ACA941025237MRE11c.544+36G>T (n.544+36G>T)
c.553+36G>T (n.553+36G>T)
c.76+36G>T (n.76+36G>T)
n.840+36G>T
 dbSNP gnomAD v3 gnomAD v4
11g.94478699C=CA1992436356MRE11c.544+36G= (n.544+36G=)
c.553+36G= (n.553+36G=)
c.76+36G= (n.76+36G=)
n.840+36G=
11g.94478699C>TCA2615589940MRE11c.544+36G>A (n.544+36G>A)
c.553+36G>A (n.553+36G>A)
c.76+36G>A (n.76+36G>A)
n.840+36G>A
 gnomAD v4
11g.94478701C>ACA226537276MRE11c.544+34G>T (n.544+34G>T)
c.553+34G>T (n.553+34G>T)
c.76+34G>T (n.76+34G>T)
n.840+34G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.94478701C=CA1992436362MRE11c.544+34G= (n.544+34G=)
c.553+34G= (n.553+34G=)
c.76+34G= (n.76+34G=)
n.840+34G=
11g.94478702A=CA1992436382MRE11c.544+33T= (n.544+33T=)
c.553+33T= (n.553+33T=)
c.76+33T= (n.76+33T=)
n.840+33T=
11g.94478702A>GCA600841915MRE11c.544+33T>C (n.544+33T>C)
c.553+33T>C (n.553+33T>C)
c.76+33T>C (n.76+33T>C)
n.840+33T>C
 dbSNP gnomAD v2 gnomAD v4
11g.94478702_94478703delinsATCA1992436386MRE11c.544+32_544+33delinsAT (n.544+32_544+33delinsAT)
c.553+32_553+33delinsAT (n.553+32_553+33delinsAT)
c.76+32_76+33delinsAT (n.76+32_76+33delinsAT)
n.840+32_840+33delinsAT
11g.94478703delCA226537284MRE11c.544+32del (n.544+32del)
c.553+32del (n.553+32del)
c.76+32del (n.76+32del)
n.840+32del
 dbSNP
11g.94478703T>CCA654062505MRE11c.544+32A>G (n.544+32A>G)
c.553+32A>G (n.553+32A>G)
c.76+32A>G (n.76+32A>G)
n.840+32A>G
 gnomAD v4 COSMIC
11g.94478705G>ACA6235372MRE11c.544+30C>T (n.544+30C>T)
c.553+30C>T (n.553+30C>T)
c.76+30C>T (n.76+30C>T)
n.840+30C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94478705G=CA1992436390MRE11c.544+30C= (n.544+30C=)
c.553+30C= (n.553+30C=)
c.76+30C= (n.76+30C=)
n.840+30C=
11g.94478705G>TCA2615589944MRE11c.544+30C>A (n.544+30C>A)
c.553+30C>A (n.553+30C>A)
c.76+30C>A (n.76+30C>A)
n.840+30C>A
 gnomAD v4
11g.94478707C>ACA2724794404MRE11c.544+28G>T (n.544+28G>T)
c.553+28G>T (n.553+28G>T)
c.76+28G>T (n.76+28G>T)
n.840+28G>T
 dbSNP
11g.94478708A>TCA2615589945MRE11c.544+27T>A (n.544+27T>A)
c.553+27T>A (n.553+27T>A)
c.76+27T>A (n.76+27T>A)
n.840+27T>A
 gnomAD v4
11g.94478709T>CCA226537308MRE11c.544+26A>G (n.544+26A>G)
c.553+26A>G (n.553+26A>G)
c.76+26A>G (n.76+26A>G)
n.840+26A>G
 dbSNP gnomAD v3 gnomAD v4
11g.94478709T=CA1992436392MRE11c.544+26A= (n.544+26A=)
c.553+26A= (n.553+26A=)
c.76+26A= (n.76+26A=)
n.840+26A=
11g.94478711A=CA1992436400MRE11c.544+24T= (n.544+24T=)
c.553+24T= (n.553+24T=)
c.76+24T= (n.76+24T=)
n.840+24T=
11g.94478711A>CCA6235373MRE11c.544+24T>G (n.544+24T>G)
c.553+24T>G (n.553+24T>G)
c.76+24T>G (n.76+24T>G)
n.840+24T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94478712A>GCA2793218254MRE11c.544+23T>C (n.544+23T>C)
c.553+23T>C (n.553+23T>C)
c.76+23T>C (n.76+23T>C)
n.840+23T>C
11g.94478713C>ACA2615589949MRE11c.544+22G>T (n.544+22G>T)
c.553+22G>T (n.553+22G>T)
c.76+22G>T (n.76+22G>T)
n.840+22G>T
 gnomAD v4
11g.94478713C=CA1992436405MRE11c.544+22G= (n.544+22G=)
c.553+22G= (n.553+22G=)
c.76+22G= (n.76+22G=)
n.840+22G=
11g.94478713C>GCA2615589950MRE11c.544+22G>C (n.544+22G>C)
c.553+22G>C (n.553+22G>C)
c.76+22G>C (n.76+22G>C)
n.840+22G>C
 gnomAD v4
11g.94478713C>TCA600841920MRE11c.544+22G>A (n.544+22G>A)
c.553+22G>A (n.553+22G>A)
c.76+22G>A (n.76+22G>A)
n.840+22G>A
 dbSNP gnomAD v2 gnomAD v4
11g.94478715G>ACA6235374MRE11c.544+20C>T (n.544+20C>T)
c.553+20C>T (n.553+20C>T)
c.76+20C>T (n.76+20C>T)
n.840+20C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.94478715G=CA1992436408MRE11c.544+20C= (n.544+20C=)
c.553+20C= (n.553+20C=)
c.76+20C= (n.76+20C=)
n.840+20C=
11g.94478717A>TCA2615589953MRE11c.544+18T>A (n.544+18T>A)
c.553+18T>A (n.553+18T>A)
c.76+18T>A (n.76+18T>A)
n.840+18T>A
 gnomAD v4
11g.94478720delCA2615589952MRE11c.544+18del (n.544+18del)
c.553+18del (n.553+18del)
c.76+18del (n.76+18del)
n.840+18del
 gnomAD v4
11g.94478718A>GCA2615589954MRE11c.544+17T>C (n.544+17T>C)
c.553+17T>C (n.553+17T>C)
c.76+17T>C (n.76+17T>C)
n.840+17T>C
 gnomAD v4
11g.94478720A>GCA2574952699MRE11c.544+15T>C (n.544+15T>C)
c.553+15T>C (n.553+15T>C)
c.76+15T>C (n.76+15T>C)
n.840+15T>C
11g.94478722A>GCA2615589955MRE11c.544+13T>C (n.544+13T>C)
c.553+13T>C (n.553+13T>C)
c.76+13T>C (n.76+13T>C)
n.840+13T>C
 gnomAD v4
11g.94478725A>GCA2580085091MRE11c.544+10T>C (n.544+10T>C)
c.553+10T>C (n.553+10T>C)
c.76+10T>C (n.76+10T>C)
n.840+10T>C
 ClinVar
11g.94478726C=CA1992436413MRE11c.544+9G= (n.544+9G=)
c.553+9G= (n.553+9G=)
c.76+9G= (n.76+9G=)
n.840+9G=
11g.94478726C>TCA6235375MRE11c.544+9G>A (n.544+9G>A)
c.553+9G>A (n.553+9G>A)
c.76+9G>A (n.76+9G>A)
n.840+9G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.94478728_94478729delCA2574952700MRE11c.544+7_544+8del (n.544+7_544+8del)
c.553+7_553+8del (n.553+7_553+8del)
c.76+7_76+8del (n.76+7_76+8del)
n.840+7_840+8del
11g.94478728G>ACA6235376MRE11c.544+7C>T (n.544+7C>T)
c.553+7C>T (n.553+7C>T)
c.76+7C>T (n.76+7C>T)
n.840+7C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.94478728G=CA1992436414MRE11c.544+7C= (n.544+7C=)
c.553+7C= (n.553+7C=)
c.76+7C= (n.76+7C=)
n.840+7C=
11g.94478729T>CCA600841922MRE11c.544+6A>G (n.544+6A>G)
c.553+6A>G (n.553+6A>G)
c.76+6A>G (n.76+6A>G)
n.840+6A>G
 dbSNP gnomAD v2 gnomAD v4
11g.94478729T=CA1992436417MRE11c.544+6A= (n.544+6A=)
c.553+6A= (n.553+6A=)
c.76+6A= (n.76+6A=)
n.840+6A=
11g.94478730C>ACA6235377MRE11c.544+5G>T (n.544+5G>T)
c.553+5G>T (n.553+5G>T)
c.76+5G>T (n.76+5G>T)
n.840+5G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94478730C=CA1992436425MRE11c.544+5G= (n.544+5G=)
c.553+5G= (n.553+5G=)
c.76+5G= (n.76+5G=)
n.840+5G=
11g.94478731_94478734dupCA2739270763MRE11c.544+2_544+5dup (n.544+2_544+5dup)
c.553+2_553+5dup (n.553+2_553+5dup)
c.76+2_76+5dup (n.76+2_76+5dup)
n.840+2_840+5dup
 ClinVar
11g.94478731T>ACA2573147775MRE11c.544+4A>T (n.544+4A>T)
c.553+4A>T (n.553+4A>T)
c.76+4A>T (n.76+4A>T)
n.840+4A>T
 ClinVar dbSNP gnomAD v4
11g.94478732T>CCA6235378MRE11c.544+3A>G (n.544+3A>G)
c.553+3A>G (n.553+3A>G)
c.76+3A>G (n.76+3A>G)
n.840+3A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.94478732T>GCA2615589969MRE11c.544+3A>C (n.544+3A>C)
c.553+3A>C (n.553+3A>C)
c.76+3A>C (n.76+3A>C)
n.840+3A>C
 gnomAD v4
11g.94478732T=CA1992436431MRE11c.544+3A= (n.544+3A=)
c.553+3A= (n.553+3A=)
c.76+3A= (n.76+3A=)
n.840+3A=
11g.94478733A>CCA382377189MRE11c.544+2T>G (n.544+2T>G)
c.553+2T>G (n.553+2T>G)
c.76+2T>G (n.76+2T>G)
n.840+2T>G
11g.94478733A>GCA382377192MRE11c.544+2T>C (n.544+2T>C)
c.553+2T>C (n.553+2T>C)
c.76+2T>C (n.76+2T>C)
n.840+2T>C
11g.94478733A>TCA382377194MRE11c.544+2T>A (n.544+2T>A)
c.553+2T>A (n.553+2T>A)
c.76+2T>A (n.76+2T>A)
n.840+2T>A
11g.94478734C>ACA382377196MRE11c.544+1G>T (n.544+1G>T)
c.553+1G>T (n.553+1G>T)
c.76+1G>T (n.76+1G>T)
n.840+1G>T
11g.94478734C>GCA382377198MRE11c.544+1G>C (n.544+1G>C)
c.553+1G>C (n.553+1G>C)
c.76+1G>C (n.76+1G>C)
n.840+1G>C
11g.94478734C>TCA382377200MRE11c.544+1G>A (n.544+1G>A)
c.553+1G>A (n.553+1G>A)
c.76+1G>A (n.76+1G>A)
n.840+1G>A
11g.94478735C>ACA382377202MRE11c.544G>T (p.Gly182Ter)
c.553G>T (p.Gly185Ter)
c.76G>T (p.Gly26Ter)
n.840G>T
11g.94478735C=CA1992436434MRE11c.544G= (p.Gly182=)
c.553G= (p.Gly185=)
c.76G= (p.Gly26=)
n.840G=
11g.94478735C>GCA382377204MRE11c.544G>C (p.Gly182Arg)
c.553G>C (p.Gly185Arg)
c.76G>C (p.Gly26Arg)
n.840G>C
11g.94478735C>TCA382377206MRE11c.544G>A (p.Gly182Arg)
c.553G>A (p.Gly185Arg)
c.76G>A (p.Gly26Arg)
n.840G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.94478736T>ACA382377210MRE11c.543A>T (p.Leu181Phe)
c.552A>T (p.Leu184Phe)
c.75A>T (p.Leu25Phe)
n.839A>T
11g.94478736T>CCA476286837MRE11c.543A>G (p.Leu181=)
c.552A>G (p.Leu184=)
c.75A>G (p.Leu25=)
n.839A>G
11g.94478736T>GCA382377208MRE11c.543A>C (p.Leu181Phe)
c.552A>C (p.Leu184Phe)
c.75A>C (p.Leu25Phe)
n.839A>C
11g.94478737A>CCA382377211MRE11c.542T>G (p.Leu181Ter)
c.551T>G (p.Leu184Ter)
c.74T>G (p.Leu25Ter)
n.838T>G
11g.94478737A>GCA382377213MRE11c.542T>C (p.Leu181Ser)
c.551T>C (p.Leu184Ser)
c.74T>C (p.Leu25Ser)
n.838T>C
11g.94478737A>TCA382377215MRE11c.542T>A (p.Leu181Ter)
c.551T>A (p.Leu184Ter)
c.74T>A (p.Leu25Ter)
n.838T>A
11g.94478738A=CA1992436435MRE11c.541T= (p.Leu181=)
c.550T= (p.Leu184=)
c.73T= (p.Leu25=)
n.837T=
11g.94478738A>CCA382377217MRE11c.541T>G (p.Leu181Val)
c.550T>G (p.Leu184Val)
c.73T>G (p.Leu25Val)
n.837T>G
11g.94478738A>GCA476286838MRE11c.541T>C (p.Leu181=)
c.550T>C (p.Leu184=)
c.73T>C (p.Leu25=)
n.837T>C
 dbSNP gnomAD v4
11g.94478738A>TCA382377219MRE11c.541T>A (p.Leu181Ile)
c.550T>A (p.Leu184Ile)
c.73T>A (p.Leu25Ile)
n.837T>A
11g.94478739A>CCA476286839MRE11c.540T>G (p.Gly180=)
c.549T>G (p.Gly183=)
c.72T>G (p.Gly24=)
n.836T>G
11g.94478739A>GCA476286841MRE11c.540T>C (p.Gly180=)
c.549T>C (p.Gly183=)
c.72T>C (p.Gly24=)
n.836T>C
 gnomAD v4
11g.94478739A>TCA476286840MRE11c.540T>A (p.Gly180=)
c.549T>A (p.Gly183=)
c.72T>A (p.Gly24=)
n.836T>A
11g.94478740C>ACA382377221MRE11c.539G>T (p.Gly180Val)
c.548G>T (p.Gly183Val)
c.71G>T (p.Gly24Val)
n.835G>T
11g.94478740C>GCA382377223MRE11c.539G>C (p.Gly180Ala)
c.548G>C (p.Gly183Ala)
c.71G>C (p.Gly24Ala)
n.835G>C
11g.94478740C>TCA382377225MRE11c.539G>A (p.Gly180Asp)
c.548G>A (p.Gly183Asp)
c.71G>A (p.Gly24Asp)
n.835G>A
11g.94478741C>ACA382377227MRE11c.538G>T (p.Gly180Cys)
c.547G>T (p.Gly183Cys)
c.70G>T (p.Gly24Cys)
n.834G>T
11g.94478741C>GCA382377229MRE11c.538G>C (p.Gly180Arg)
c.547G>C (p.Gly183Arg)
c.70G>C (p.Gly24Arg)
n.834G>C
11g.94478741C>TCA382377231MRE11c.538G>A (p.Gly180Ser)
c.547G>A (p.Gly183Ser)
c.70G>A (p.Gly24Ser)
n.834G>A
 gnomAD v4
11g.94478742A>CCA382377233MRE11c.537T>G (p.Tyr179Ter)
c.546T>G (p.Tyr182Ter)
c.69T>G (p.Tyr23Ter)
n.833T>G
11g.94478742A>GCA476286842MRE11c.537T>C (p.Tyr179=)
c.546T>C (p.Tyr182=)
c.69T>C (p.Tyr23=)
n.833T>C
 ClinVar
11g.94478742A>TCA382377235MRE11c.537T>A (p.Tyr179Ter)
c.546T>A (p.Tyr182Ter)
c.69T>A (p.Tyr23Ter)
n.833T>A
11g.94478743T>ACA382377239MRE11c.536A>T (p.Tyr179Phe)
c.545A>T (p.Tyr182Phe)
c.68A>T (p.Tyr23Phe)
n.832A>T
11g.94478743T>CCA382377241MRE11c.536A>G (p.Tyr179Cys)
c.545A>G (p.Tyr182Cys)
c.68A>G (p.Tyr23Cys)
n.832A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.94478743T>GCA382377238MRE11c.536A>C (p.Tyr179Ser)
c.545A>C (p.Tyr182Ser)
c.68A>C (p.Tyr23Ser)
n.832A>C
11g.94478743T=CA1992436439MRE11c.536A= (p.Tyr179=)
c.545A= (p.Tyr182=)
c.68A= (p.Tyr23=)
n.832A=
11g.94478744A=CA1992436445MRE11c.535T= (p.Tyr179=)
c.544T= (p.Tyr182=)
c.67T= (p.Tyr23=)
n.831T=
11g.94478744A>CCA382377244MRE11c.535T>G (p.Tyr179Asp)
c.544T>G (p.Tyr182Asp)
c.67T>G (p.Tyr23Asp)
n.831T>G
11g.94478744A>GCA348382MRE11c.535T>C (p.Tyr179His)
c.544T>C (p.Tyr182His)
c.67T>C (p.Tyr23His)
n.831T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.94478744A>TCA382377247MRE11c.535T>A (p.Tyr179Asn)
c.544T>A (p.Tyr182Asn)
c.67T>A (p.Tyr23Asn)
n.831T>A
11g.94478745T>ACA476286843MRE11c.534A>T (p.Leu178=)
c.543A>T (p.Leu181=)
c.66A>T (p.Leu22=)
n.830A>T
 gnomAD v4
11g.94478745T>CCA192859MRE11c.534A>G (p.Leu178=)
c.543A>G (p.Leu181=)
c.66A>G (p.Leu22=)
n.830A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94478745T>GCA476286844MRE11c.534A>C (p.Leu178=)
c.543A>C (p.Leu181=)
c.66A>C (p.Leu22=)
n.830A>C
11g.94478745T=CA1992436454MRE11c.534A= (p.Leu178=)
c.543A= (p.Leu181=)
c.66A= (p.Leu22=)
n.830A=
11g.94478746A>CCA382377250MRE11c.533T>G (p.Leu178Arg)
c.542T>G (p.Leu181Arg)
c.65T>G (p.Leu22Arg)
n.829T>G
11g.94478746A>GCA382377252MRE11c.533T>C (p.Leu178Pro)
c.542T>C (p.Leu181Pro)
c.65T>C (p.Leu22Pro)
n.829T>C
11g.94478746A>TCA382377254MRE11c.533T>A (p.Leu178Gln)
c.542T>A (p.Leu181Gln)
c.65T>A (p.Leu22Gln)
n.829T>A
11g.94478747G>ACA476286845MRE11c.532C>T (p.Leu178=)
c.541C>T (p.Leu181=)
c.64C>T (p.Leu22=)
n.828C>T
11g.94478747G>CCA6235379MRE11c.532C>G (p.Leu178Val)
c.541C>G (p.Leu181Val)
c.64C>G (p.Leu22Val)
n.828C>G
 dbSNP ExAC gnomAD v3 gnomAD v4
11g.94478747G=CA1992436461MRE11c.532C= (p.Leu178=)
c.541C= (p.Leu181=)
c.64C= (p.Leu22=)
n.828C=
11g.94478747G>TCA382377257MRE11c.532C>A (p.Leu178Ile)
c.541C>A (p.Leu181Ile)
c.64C>A (p.Leu22Ile)
n.828C>A
11g.94478748C>ACA226537338MRE11c.531G>T (p.Ala177=)
c.540G>T (p.Ala180=)
c.63G>T (p.Ala21=)
n.827G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.94478748C=CA1992436474MRE11c.531G= (p.Ala177=)
c.540G= (p.Ala180=)
c.63G= (p.Ala21=)
n.827G=
11g.94478748C>GCA193466MRE11c.531G>C (p.Ala177=)
c.540G>C (p.Ala180=)
c.63G>C (p.Ala21=)
n.827G>C
 ClinVar dbSNP
11g.94478748C>TCA226537343MRE11c.531G>A (p.Ala177=)
c.540G>A (p.Ala180=)
c.63G>A (p.Ala21=)
n.827G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.94478749G>ACA190507MRE11c.530C>T (p.Ala177Val)
c.539C>T (p.Ala180Val)
c.62C>T (p.Ala21Val)
n.826C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94478749G>CCA382377263MRE11c.530C>G (p.Ala177Gly)
c.539C>G (p.Ala180Gly)
c.62C>G (p.Ala21Gly)
n.826C>G
 COSMIC COSMIC
11g.94478749G=CA1992436510MRE11c.530C= (p.Ala177=)
c.539C= (p.Ala180=)
c.62C= (p.Ala21=)
n.826C=
11g.94478749G>TCA382377265MRE11c.530C>A (p.Ala177Glu)
c.539C>A (p.Ala180Glu)
c.62C>A (p.Ala21Glu)
n.826C>A
 dbSNP gnomAD v2 gnomAD v4
11g.94478749_94478750delinsATCA2580610858MRE11c.529_530delinsAT (p.Ala177Met)
c.538_539delinsAT (p.Ala180Met)
c.61_62delinsAT (p.Ala21Met)
n.825_826delinsAT
11g.94478750C>ACA382377271MRE11c.529G>T (p.Ala177Ser)
c.538G>T (p.Ala180Ser)
c.61G>T (p.Ala21Ser)
n.825G>T
11g.94478750C=CA1992436524MRE11c.529G= (p.Ala177=)
c.538G= (p.Ala180=)
c.61G= (p.Ala21=)
n.825G=
11g.94478750C>GCA382377269MRE11c.529G>C (p.Ala177Pro)
c.538G>C (p.Ala180Pro)
c.61G>C (p.Ala21Pro)
n.825G>C
 ClinVar dbSNP
11g.94478750C>TCA331846MRE11c.529G>A (p.Ala177Thr)
c.538G>A (p.Ala180Thr)
c.61G>A (p.Ala21Thr)
n.825G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94478751A>CCA382377272MRE11c.528T>G (p.Ile176Met)
c.537T>G (p.Ile179Met)
c.60T>G (p.Ile20Met)
n.824T>G
 ClinVar
11g.94478751A>GCA476286846MRE11c.528T>C (p.Ile176=)
c.537T>C (p.Ile179=)
c.60T>C (p.Ile20=)
n.824T>C
 dbSNP
11g.94478751A>TCA476286847MRE11c.528T>A (p.Ile176=)
c.537T>A (p.Ile179=)
c.60T>A (p.Ile20=)
n.824T>A
11g.94478752A>CCA382377274MRE11c.527T>G (p.Ile176Ser)
c.536T>G (p.Ile179Ser)
c.59T>G (p.Ile20Ser)
n.823T>G
 ClinVar dbSNP
11g.94478752A>GCA382377276MRE11c.527T>C (p.Ile176Thr)
c.536T>C (p.Ile179Thr)
c.59T>C (p.Ile20Thr)
n.823T>C
11g.94478752A>TCA382377278MRE11c.527T>A (p.Ile176Asn)
c.536T>A (p.Ile179Asn)
c.59T>A (p.Ile20Asn)
n.823T>A
11g.94478753T>ACA6235380MRE11c.526A>T (p.Ile176Phe)
c.535A>T (p.Ile179Phe)
c.58A>T (p.Ile20Phe)
n.822A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.94478753T>CCA165176MRE11c.526A>G (p.Ile176Val)
c.535A>G (p.Ile179Val)
c.58A>G (p.Ile20Val)
n.822A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.94478753T>GCA382377282MRE11c.526A>C (p.Ile176Leu)
c.535A>C (p.Ile179Leu)
c.58A>C (p.Ile20Leu)
n.822A>C
11g.94478753T=CA1992436534MRE11c.526A= (p.Ile176=)
c.535A= (p.Ile179=)
c.58A= (p.Ile20=)
n.822A=
11g.94478754C>ACA382377285MRE11c.525G>T (p.Lys175Asn)
c.534G>T (p.Lys178Asn)
c.57G>T (p.Lys19Asn)
n.821G>T
 ClinVar dbSNP gnomAD v4
11g.94478754C=CA1992436544MRE11c.525G= (p.Lys175=)
c.534G= (p.Lys178=)
c.57G= (p.Lys19=)
n.821G=
11g.94478754C>GCA382377286MRE11c.525G>C (p.Lys175Asn)
c.534G>C (p.Lys178Asn)
c.57G>C (p.Lys19Asn)
n.821G>C
 dbSNP
11g.94478754C>TCA476286848MRE11c.525G>A (p.Lys175=)
c.534G>A (p.Lys178=)
c.57G>A (p.Lys19=)
n.821G>A
 ClinVar
11g.94478755T>ACA382377288MRE11c.524A>T (p.Lys175Met)
c.533A>T (p.Lys178Met)
c.56A>T (p.Lys19Met)
n.820A>T
11g.94478755T>CCA382377290MRE11c.524A>G (p.Lys175Arg)
c.533A>G (p.Lys178Arg)
c.56A>G (p.Lys19Arg)
n.820A>G
 ClinVar dbSNP
11g.94478755T>GCA382377292MRE11c.524A>C (p.Lys175Thr)
c.533A>C (p.Lys178Thr)
c.56A>C (p.Lys19Thr)
n.820A>C
11g.94478755T=CA1992436556MRE11c.524A= (p.Lys175=)
c.533A= (p.Lys178=)
c.56A= (p.Lys19=)
n.820A=
11g.94478756T>ACA382377297MRE11c.523A>T (p.Lys175Ter)
c.532A>T (p.Lys178Ter)
c.55A>T (p.Lys19Ter)
n.819A>T
11g.94478756T>CCA382377296MRE11c.523A>G (p.Lys175Glu)
c.532A>G (p.Lys178Glu)
c.55A>G (p.Lys19Glu)
n.819A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.94478756T>GCA382377294MRE11c.523A>C (p.Lys175Gln)
c.532A>C (p.Lys178Gln)
c.55A>C (p.Lys19Gln)
n.819A>C
 ClinVar dbSNP
11g.94478756T=CA1992436568MRE11c.523A= (p.Lys175=)
c.532A= (p.Lys178=)
c.55A= (p.Lys19=)
n.819A=
11g.94478757T>ACA476286849MRE11c.522A>T (p.Thr174=)
c.531A>T (p.Thr177=)
c.54A>T (p.Thr18=)
n.818A>T
11g.94478757T>CCA476286850MRE11c.522A>G (p.Thr174=)
c.531A>G (p.Thr177=)
c.54A>G (p.Thr18=)
n.818A>G
 ClinVar
11g.94478757T>GCA476286851MRE11c.522A>C (p.Thr174=)
c.531A>C (p.Thr177=)
c.54A>C (p.Thr18=)
n.818A>C
11g.94478758G>ACA382377298MRE11c.521C>T (p.Thr174Ile)
c.530C>T (p.Thr177Ile)
c.53C>T (p.Thr18Ile)
n.817C>T
11g.94478758G>CCA382377299MRE11c.521C>G (p.Thr174Arg)
c.530C>G (p.Thr177Arg)
c.53C>G (p.Thr18Arg)
n.817C>G
 gnomAD v4
11g.94478758G>TCA382377302MRE11c.521C>A (p.Thr174Lys)
c.530C>A (p.Thr177Lys)
c.53C>A (p.Thr18Lys)
n.817C>A
11g.94478759T>ACA382377304MRE11c.520A>T (p.Thr174Ser)
c.529A>T (p.Thr177Ser)
c.52A>T (p.Thr18Ser)
n.816A>T
11g.94478759T>CCA382377306MRE11c.520A>G (p.Thr174Ala)
c.529A>G (p.Thr177Ala)
c.52A>G (p.Thr18Ala)
n.816A>G
 ClinVar gnomAD v4
11g.94478759T>GCA382377308MRE11c.520A>C (p.Thr174Pro)
c.529A>C (p.Thr177Pro)
c.52A>C (p.Thr18Pro)
n.816A>C
11g.94478759_94478760delinsTGCA1992436575MRE11c.519_520delinsCA (p.Ser173=)
c.528_529delinsCA (p.Ser176=)
c.51_52delinsCA (p.Ser17=)
n.815_816delinsCA
11g.94478760delCA941025281MRE11c.519del (p.Ser173ArgfsTer9)
c.528del (p.Ser176ArgfsTer9)
c.51del (p.Ser17ArgfsTer9)
n.815del
 dbSNP gnomAD v3 gnomAD v4
11g.94478760G>ACA476286852MRE11c.519C>T (p.Ser173=)
c.528C>T (p.Ser176=)
c.51C>T (p.Ser17=)
n.815C>T
 ClinVar dbSNP
11g.94478760G>CCA6235381MRE11c.519C>G (p.Ser173Arg)
c.528C>G (p.Ser176Arg)
c.51C>G (p.Ser17Arg)
n.815C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.94478760G=CA1992436587MRE11c.519C= (p.Ser173=)
c.528C= (p.Ser176=)
c.51C= (p.Ser17=)
n.815C=
11g.94478760G>TCA382377311MRE11c.519C>A (p.Ser173Arg)
c.528C>A (p.Ser176Arg)
c.51C>A (p.Ser17Arg)
n.815C>A
11g.94478761C>ACA382377314MRE11c.518G>T (p.Ser173Ile)
c.527G>T (p.Ser176Ile)
n.594G>T
c.50G>T (p.Ser17Ile)
n.814G>T
 ClinVar dbSNP gnomAD v4
11g.94478761C=CA1992436591MRE11c.518G= (p.Ser173=)
c.527G= (p.Ser176=)
n.594G=
c.50G= (p.Ser17=)
n.814G=
11g.94478761C>GCA382377317MRE11c.518G>C (p.Ser173Thr)
c.527G>C (p.Ser176Thr)
n.594G>C
c.50G>C (p.Ser17Thr)
n.814G>C
11g.94478761C>TCA382377319MRE11c.518G>A (p.Ser173Asn)
c.527G>A (p.Ser176Asn)
n.594G>A
c.50G>A (p.Ser17Asn)
n.814G>A
 dbSNP
11g.94478762T>ACA382377322MRE11c.517A>T (p.Ser173Cys)
c.526A>T (p.Ser176Cys)
n.593A>T
c.49A>T (p.Ser17Cys)
n.813A>T
11g.94478762T>CCA382377323MRE11c.517A>G (p.Ser173Gly)
c.526A>G (p.Ser176Gly)
n.593A>G
c.49A>G (p.Ser17Gly)
n.813A>G
 dbSNP
11g.94478762T>GCA382377325MRE11c.517A>C (p.Ser173Arg)
c.526A>C (p.Ser176Arg)
n.593A>C
c.49A>C (p.Ser17Arg)
n.813A>C
11g.94478763T>ACA476286853MRE11c.516A>T (p.Gly172=)
c.525A>T (p.Gly175=)
n.592A>T
c.48A>T (p.Gly16=)
n.812A>T
11g.94478763T>CCA476286854MRE11c.516A>G (p.Gly172=)
c.525A>G (p.Gly175=)
n.592A>G
c.48A>G (p.Gly16=)
n.812A>G
11g.94478763T>GCA476286855MRE11c.516A>C (p.Gly172=)
c.525A>C (p.Gly175=)
n.592A>C
c.48A>C (p.Gly16=)
n.812A>C
11g.94478764C>ACA382377328MRE11c.515G>T (p.Gly172Val)
c.524G>T (p.Gly175Val)
n.591G>T
c.47G>T (p.Gly16Val)
n.811G>T
11g.94478764C>GCA382377333MRE11c.515G>C (p.Gly172Ala)
c.524G>C (p.Gly175Ala)
n.591G>C
c.47G>C (p.Gly16Ala)
n.811G>C
11g.94478764C>TCA382377331MRE11c.515G>A (p.Gly172Glu)
c.524G>A (p.Gly175Glu)
n.591G>A
c.47G>A (p.Gly16Glu)
n.811G>A
 COSMIC COSMIC
11g.94478765C>ACA382377334MRE11c.514G>T (p.Gly172Ter)
c.523G>T (p.Gly175Ter)
n.590G>T
c.46G>T (p.Gly16Ter)
n.810G>T
11g.94478765C=CA1992436597MRE11c.514G= (p.Gly172=)
c.523G= (p.Gly175=)
n.590G=
c.46G= (p.Gly16=)
n.810G=
11g.94478765C>GCA382377337MRE11c.514G>C (p.Gly172Arg)
c.523G>C (p.Gly175Arg)
n.590G>C
c.46G>C (p.Gly16Arg)
n.810G>C
11g.94478765C>TCA382377339MRE11c.514G>A (p.Gly172Arg)
c.523G>A (p.Gly175Arg)
n.590G>A
c.46G>A (p.Gly16Arg)
n.810G>A
 dbSNP gnomAD v4
11g.94478766T>ACA382377341MRE11c.513A>T (p.Lys171Asn)
c.522A>T (p.Lys174Asn)
n.589A>T
c.45A>T (p.Lys15Asn)
n.809A>T
11g.94478766T>CCA476286856MRE11c.513A>G (p.Lys171=)
c.522A>G (p.Lys174=)
n.589A>G
c.45A>G (p.Lys15=)
n.809A>G
11g.94478766T>GCA382377343MRE11c.513A>C (p.Lys171Asn)
c.522A>C (p.Lys174Asn)
n.589A>C
c.45A>C (p.Lys15Asn)
n.809A>C
11g.94478770delCA2724794958MRE11c.513del (p.Gly172GlufsTer10)
c.522del (p.Gly175GlufsTer10)
n.589del
c.45del (p.Gly16GlufsTer10)
n.809del
 dbSNP
11g.94478767T>ACA382377345MRE11c.512A>T (p.Lys171Ile)
c.521A>T (p.Lys174Ile)
n.588A>T
c.44A>T (p.Lys15Ile)
n.808A>T
11g.94478767T>CCA382377347MRE11c.512A>G (p.Lys171Arg)
c.521A>G (p.Lys174Arg)
n.588A>G
c.44A>G (p.Lys15Arg)
n.808A>G
11g.94478767T>GCA382377349MRE11c.512A>C (p.Lys171Thr)
c.521A>C (p.Lys174Thr)
n.588A>C
c.44A>C (p.Lys15Thr)
n.808A>C
11g.94478767_94478775delinsTTTTGAAGCCA1992436600MRE11c.504_512delinsGCTTCAAAA (p.Leu168=)
c.513_521delinsGCTTCAAAA (p.Leu171=)
n.580_588delinsGCTTCAAAA
c.36_44delinsGCTTCAAAA (p.Leu12=)
n.800_808delinsGCTTCAAAA
11g.94478768T>ACA382377351MRE11c.511A>T (p.Lys171Ter)
c.520A>T (p.Lys174Ter)
n.587A>T
c.43A>T (p.Lys15Ter)
n.807A>T
11g.94478768T>CCA382377352MRE11c.511A>G (p.Lys171Glu)
c.520A>G (p.Lys174Glu)
n.587A>G
c.43A>G (p.Lys15Glu)
n.807A>G
 ClinVar dbSNP
11g.94478768T>GCA382377353MRE11c.511A>C (p.Lys171Gln)
c.520A>C (p.Lys174Gln)
n.587A>C
c.43A>C (p.Lys15Gln)
n.807A>C
11g.94478768T=CA1992436605MRE11c.511A= (p.Lys171=)
c.520A= (p.Lys174=)
n.587A=
c.43A= (p.Lys15=)
n.807A=
11g.94478768_94478775delCA192198MRE11c.504_511del (p.Leu169ArgfsTer16)
c.513_520del (p.Leu172ArgfsTer16)
n.580_587del
c.36_43del (p.Leu13ArgfsTer16)
n.800_807del
 ClinVar dbSNP gnomAD v4
11g.94478769T>ACA382377354MRE11c.510A>T (p.Gln170His)
c.519A>T (p.Gln173His)
n.586A>T
c.42A>T (p.Gln14His)
n.806A>T
11g.94478769T>CCA476286857MRE11c.510A>G (p.Gln170=)
c.519A>G (p.Gln173=)
n.586A>G
c.42A>G (p.Gln14=)
n.806A>G
 gnomAD v4
11g.94478769T>GCA382377355MRE11c.510A>C (p.Gln170His)
c.519A>C (p.Gln173His)
n.586A>C
c.42A>C (p.Gln14His)
n.806A>C
11g.94478770T>ACA382377357MRE11c.509A>T (p.Gln170Leu)
c.518A>T (p.Gln173Leu)
n.585A>T
c.41A>T (p.Gln14Leu)
n.805A>T
11g.94478770T>CCA382377361MRE11c.509A>G (p.Gln170Arg)
c.518A>G (p.Gln173Arg)
n.585A>G
c.41A>G (p.Gln14Arg)
n.805A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.94478770T>GCA382377359MRE11c.509A>C (p.Gln170Pro)
c.518A>C (p.Gln173Pro)
n.585A>C
c.41A>C (p.Gln14Pro)
n.805A>C
11g.94478770T=CA1992436612MRE11c.509A= (p.Gln170=)
c.518A= (p.Gln173=)
n.585A=
c.41A= (p.Gln14=)
n.805A=
11g.94478771G>ACA166507MRE11c.508C>T (p.Gln170Ter)
c.517C>T (p.Gln173Ter)
n.584C>T
c.40C>T (p.Gln14Ter)
n.804C>T
 ClinVar dbSNP
11g.94478771G>CCA382377364MRE11c.508C>G (p.Gln170Glu)
c.517C>G (p.Gln173Glu)
n.584C>G
c.40C>G (p.Gln14Glu)
n.804C>G
11g.94478771G=CA1992436631MRE11c.508C= (p.Gln170=)
c.517C= (p.Gln173=)
n.584C=
c.40C= (p.Gln14=)
n.804C=
11g.94478771G>TCA6235382MRE11c.508C>A (p.Gln170Lys)
c.517C>A (p.Gln173Lys)
n.584C>A
c.40C>A (p.Gln14Lys)
n.804C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched