Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.99594771G>ACA357505719MTTPc.797G>A (p.Arg266Lys)
c.548G>A (p.Arg183Lys)
c.878G>A (p.Arg293Lys)
 dbSNP gnomAD v4
4g.99594771G>CCA357505721MTTPc.797G>C (p.Arg266Thr)
c.548G>C (p.Arg183Thr)
c.878G>C (p.Arg293Thr)
4g.99594771G=CA1480076901MTTPc.797G= (p.Arg266=)
c.548G= (p.Arg183=)
c.878G= (p.Arg293=)
4g.99594771G>TCA357505720MTTPc.797G>T (p.Arg266Ile)
c.548G>T (p.Arg183Ile)
c.878G>T (p.Arg293Ile)
4g.99594772A>CCA357505722MTTPc.798A>C (p.Arg266Ser)
c.549A>C (p.Arg183Ser)
c.879A>C (p.Arg293Ser)
4g.99594772A>GCA440329187MTTPc.798A>G (p.Arg266=)
c.549A>G (p.Arg183=)
c.879A>G (p.Arg293=)
4g.99594772A>TCA357505723MTTPc.798A>T (p.Arg266Ser)
c.549A>T (p.Arg183Ser)
c.879A>T (p.Arg293Ser)
4g.99594773T>ACA357505724MTTPc.799T>A (p.Leu267Met)
c.550T>A (p.Leu184Met)
c.880T>A (p.Leu294Met)
4g.99594773T>CCA3021953MTTPc.799T>C (p.Leu267=)
c.550T>C (p.Leu184=)
c.880T>C (p.Leu294=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99594773T>GCA357505725MTTPc.799T>G (p.Leu267Val)
c.550T>G (p.Leu184Val)
c.880T>G (p.Leu294Val)
4g.99594773T=CA1480076902MTTPc.799T= (p.Leu267=)
c.550T= (p.Leu184=)
c.880T= (p.Leu294=)
4g.99594774T>ACA357505726MTTPc.800T>A (p.Leu267Ter)
c.551T>A (p.Leu184Ter)
c.881T>A (p.Leu294Ter)
4g.99594774T>CCA357505727MTTPc.800T>C (p.Leu267Ser)
c.551T>C (p.Leu184Ser)
c.881T>C (p.Leu294Ser)
 gnomAD v4
4g.99594774T>GCA357505728MTTPc.800T>G (p.Leu267Trp)
c.551T>G (p.Leu184Trp)
c.881T>G (p.Leu294Trp)
4g.99594775G>ACA440329188MTTPc.801G>A (p.Leu267=)
c.552G>A (p.Leu184=)
c.882G>A (p.Leu294=)
4g.99594775G>CCA357505729MTTPc.801G>C (p.Leu267Phe)
c.552G>C (p.Leu184Phe)
c.882G>C (p.Leu294Phe)
4g.99594775G>TCA357505730MTTPc.801G>T (p.Leu267Phe)
c.552G>T (p.Leu184Phe)
c.882G>T (p.Leu294Phe)
4g.99594776A>CCA357505731MTTPc.802A>C (p.Met268Leu)
c.553A>C (p.Met185Leu)
c.883A>C (p.Met295Leu)
4g.99594776A>GCA357505732MTTPc.802A>G (p.Met268Val)
c.553A>G (p.Met185Val)
c.883A>G (p.Met295Val)
 gnomAD v4
4g.99594776A>TCA357505733MTTPc.802A>T (p.Met268Leu)
c.553A>T (p.Met185Leu)
c.883A>T (p.Met295Leu)
4g.99594777T>ACA357505735MTTPc.803T>A (p.Met268Lys)
c.554T>A (p.Met185Lys)
c.884T>A (p.Met295Lys)
4g.99594777T>CCA3021954MTTPc.803T>C (p.Met268Thr)
c.554T>C (p.Met185Thr)
c.884T>C (p.Met295Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.99594777T>GCA357505734MTTPc.803T>G (p.Met268Arg)
c.554T>G (p.Met185Arg)
c.884T>G (p.Met295Arg)
4g.99594777T=CA1480076903MTTPc.803T= (p.Met268=)
c.554T= (p.Met185=)
c.884T= (p.Met295=)
4g.99594778G>ACA357505736MTTPc.804G>A (p.Met268Ile)
c.555G>A (p.Met185Ile)
c.885G>A (p.Met295Ile)
 dbSNP gnomAD v3 gnomAD v4
4g.99594778G>CCA357505737MTTPc.804G>C (p.Met268Ile)
c.555G>C (p.Met185Ile)
c.885G>C (p.Met295Ile)
4g.99594778G=CA1480076904MTTPc.804G= (p.Met268=)
c.555G= (p.Met185=)
c.885G= (p.Met295=)
4g.99594778G>TCA357505738MTTPc.804G>T (p.Met268Ile)
c.555G>T (p.Met185Ile)
c.885G>T (p.Met295Ile)
 gnomAD v4
4g.99594779T>ACA357505739MTTPc.805T>A (p.Ser269Thr)
c.556T>A (p.Ser186Thr)
c.886T>A (p.Ser296Thr)
4g.99594779T>CCA357505740MTTPc.805T>C (p.Ser269Pro)
c.556T>C (p.Ser186Pro)
c.886T>C (p.Ser296Pro)
 gnomAD v4
4g.99594779T>GCA357505741MTTPc.805T>G (p.Ser269Ala)
c.556T>G (p.Ser186Ala)
c.886T>G (p.Ser296Ala)
4g.99594780C>ACA357505742MTTPc.806C>A (p.Ser269Tyr)
c.557C>A (p.Ser186Tyr)
c.887C>A (p.Ser296Tyr)
4g.99594780C>GCA357505743MTTPc.806C>G (p.Ser269Cys)
c.557C>G (p.Ser186Cys)
c.887C>G (p.Ser296Cys)
4g.99594780C>TCA357505744MTTPc.806C>T (p.Ser269Phe)
c.557C>T (p.Ser186Phe)
c.887C>T (p.Ser296Phe)
4g.99594781T>ACA440329189MTTPc.807T>A (p.Ser269=)
c.558T>A (p.Ser186=)
c.888T>A (p.Ser296=)
4g.99594781T>CCA3021955MTTPc.807T>C (p.Ser269=)
c.558T>C (p.Ser186=)
c.888T>C (p.Ser296=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99594781T>GCA440329190MTTPc.807T>G (p.Ser269=)
c.558T>G (p.Ser186=)
c.888T>G (p.Ser296=)
4g.99594781T=CA1480076905MTTPc.807T= (p.Ser269=)
c.558T= (p.Ser186=)
c.888T= (p.Ser296=)
4g.99594781_99594787delCA2580071902MTTPc.807_813del (p.Gly270ArgfsTer5)
c.558_564del (p.Gly187ArgfsTer5)
c.888_894del (p.Gly297ArgfsTer5)
 ClinVar
4g.99594782G>ACA357505745MTTPc.808G>A (p.Gly270Arg)
c.559G>A (p.Gly187Arg)
c.889G>A (p.Gly297Arg)
4g.99594782G>CCA357505746MTTPc.808G>C (p.Gly270Arg)
c.559G>C (p.Gly187Arg)
c.889G>C (p.Gly297Arg)
 gnomAD v4
4g.99594782G>TCA357505747MTTPc.808G>T (p.Gly270Ter)
c.559G>T (p.Gly187Ter)
c.889G>T (p.Gly297Ter)
 ClinVar
4g.99594783G>ACA357505750MTTPc.809G>A (p.Gly270Glu)
c.560G>A (p.Gly187Glu)
c.890G>A (p.Gly297Glu)
4g.99594783G>CCA357505749MTTPc.809G>C (p.Gly270Ala)
c.560G>C (p.Gly187Ala)
c.890G>C (p.Gly297Ala)
4g.99594783G>TCA357505748MTTPc.809G>T (p.Gly270Val)
c.560G>T (p.Gly187Val)
c.890G>T (p.Gly297Val)
4g.99594784A>CCA440329192MTTPc.810A>C (p.Gly270=)
c.561A>C (p.Gly187=)
c.891A>C (p.Gly297=)
4g.99594784A>GCA440329193MTTPc.810A>G (p.Gly270=)
c.561A>G (p.Gly187=)
c.891A>G (p.Gly297=)
 ClinVar dbSNP
4g.99594784A>TCA440329191MTTPc.810A>T (p.Gly270=)
c.561A>T (p.Gly187=)
c.891A>T (p.Gly297=)
4g.99594784_99594785insTGATGAATCA2570765991MTTPc.810_811insTGATGAAT (p.Lys271Ter)
c.561_562insTGATGAAT (p.Lys188Ter)
c.891_892insTGATGAAT (p.Lys298Ter)
4g.99594785A>CCA357505753MTTPc.811A>C (p.Lys271Gln)
c.562A>C (p.Lys188Gln)
c.892A>C (p.Lys298Gln)
4g.99594785A>GCA357505751MTTPc.811A>G (p.Lys271Glu)
c.562A>G (p.Lys188Glu)
c.892A>G (p.Lys298Glu)
4g.99594785A>TCA357505752MTTPc.811A>T (p.Lys271Ter)
c.562A>T (p.Lys188Ter)
c.892A>T (p.Lys298Ter)
4g.99594786A=CA1480076906MTTPc.812A= (p.Lys271=)
c.563A= (p.Lys188=)
c.893A= (p.Lys298=)
4g.99594786A>CCA357505754MTTPc.812A>C (p.Lys271Thr)
c.563A>C (p.Lys188Thr)
c.893A>C (p.Lys298Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99594786A>GCA357505755MTTPc.812A>G (p.Lys271Arg)
c.563A>G (p.Lys188Arg)
c.893A>G (p.Lys298Arg)
4g.99594786A>TCA357505756MTTPc.812A>T (p.Lys271Met)
c.563A>T (p.Lys188Met)
c.893A>T (p.Lys298Met)
 COSMIC
4g.99594787G>ACA102627242MTTPc.813G>A (p.Lys271=)
c.564G>A (p.Lys188=)
c.894G>A (p.Lys298=)
 dbSNP gnomAD v4
4g.99594787G>CCA357505757MTTPc.813G>C (p.Lys271Asn)
c.564G>C (p.Lys188Asn)
c.894G>C (p.Lys298Asn)
4g.99594787G=CA1480076907MTTPc.813G= (p.Lys271=)
c.564G= (p.Lys188=)
c.894G= (p.Lys298=)
4g.99594787G>TCA357505758MTTPc.813G>T (p.Lys271Asn)
c.564G>T (p.Lys188Asn)
c.894G>T (p.Lys298Asn)
4g.99594788C>ACA357505759MTTPc.814C>A (p.Gln272Lys)
c.565C>A (p.Gln189Lys)
c.895C>A (p.Gln299Lys)
4g.99594788C=CA1480076908MTTPc.814C= (p.Gln272=)
c.565C= (p.Gln189=)
c.895C= (p.Gln299=)
4g.99594788C>GCA357505760MTTPc.814C>G (p.Gln272Glu)
c.565C>G (p.Gln189Glu)
c.895C>G (p.Gln299Glu)
4g.99594788C>TCA357505761MTTPc.814C>T (p.Gln272Ter)
c.565C>T (p.Gln189Ter)
c.895C>T (p.Gln299Ter)
 dbSNP gnomAD v3 gnomAD v4
4g.99594789A=CA1480076909MTTPc.815A= (p.Gln272=)
c.566A= (p.Gln189=)
c.896A= (p.Gln299=)
4g.99594789A>CCA357505762MTTPc.815A>C (p.Gln272Pro)
c.566A>C (p.Gln189Pro)
c.896A>C (p.Gln299Pro)
4g.99594789A>GCA357505763MTTPc.815A>G (p.Gln272Arg)
c.566A>G (p.Gln189Arg)
c.896A>G (p.Gln299Arg)
 dbSNP
4g.99594789A>TCA357505764MTTPc.815A>T (p.Gln272Leu)
c.566A>T (p.Gln189Leu)
c.896A>T (p.Gln299Leu)
4g.99594790G>ACA440329194MTTPc.816G>A (p.Gln272=)
c.567G>A (p.Gln189=)
c.897G>A (p.Gln299=)
 gnomAD v4
4g.99594790G>CCA357505765MTTPc.816G>C (p.Gln272His)
c.567G>C (p.Gln189His)
c.897G>C (p.Gln299His)
4g.99594790G>TCA357505766MTTPc.816G>T (p.Gln272His)
c.567G>T (p.Gln189His)
c.897G>T (p.Gln299His)
4g.99594791G>ACA357505767MTTPc.817G>A (p.Ala273Thr)
c.568G>A (p.Ala190Thr)
c.898G>A (p.Ala300Thr)
4g.99594791G>CCA357505768MTTPc.817G>C (p.Ala273Pro)
c.568G>C (p.Ala190Pro)
c.898G>C (p.Ala300Pro)
4g.99594791G>TCA357505769MTTPc.817G>T (p.Ala273Ser)
c.568G>T (p.Ala190Ser)
c.898G>T (p.Ala300Ser)
4g.99594792C>ACA357505770MTTPc.818C>A (p.Ala273Asp)
c.569C>A (p.Ala190Asp)
c.899C>A (p.Ala300Asp)
4g.99594792C=CA1480076910MTTPc.818C= (p.Ala273=)
c.569C= (p.Ala190=)
c.899C= (p.Ala300=)
4g.99594792C>GCA357505771MTTPc.818C>G (p.Ala273Gly)
c.569C>G (p.Ala190Gly)
c.899C>G (p.Ala300Gly)
4g.99594792C>TCA357505772MTTPc.818C>T (p.Ala273Val)
c.569C>T (p.Ala190Val)
c.899C>T (p.Ala300Val)
 dbSNP gnomAD v2 gnomAD v4
4g.99594793T>ACA440329195MTTPc.819T>A (p.Ala273=)
c.570T>A (p.Ala190=)
c.900T>A (p.Ala300=)
4g.99594793T>CCA440329196MTTPc.819T>C (p.Ala273=)
c.570T>C (p.Ala190=)
c.900T>C (p.Ala300=)
 gnomAD v4
4g.99594793T>GCA440329197MTTPc.819T>G (p.Ala273=)
c.570T>G (p.Ala190=)
c.900T>G (p.Ala300=)
4g.99594794G>ACA3021957MTTPc.820G>A (p.Ala274Thr)
c.571G>A (p.Ala191Thr)
c.901G>A (p.Ala301Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99594794G>CCA3021956MTTPc.820G>C (p.Ala274Pro)
c.571G>C (p.Ala191Pro)
c.901G>C (p.Ala301Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.99594794G=CA1480076911MTTPc.820G= (p.Ala274=)
c.571G= (p.Ala191=)
c.901G= (p.Ala301=)
4g.99594794G>TCA357505773MTTPc.820G>T (p.Ala274Ser)
c.571G>T (p.Ala191Ser)
c.901G>T (p.Ala301Ser)
 gnomAD v4
4g.99594795C>ACA357505774MTTPc.821C>A (p.Ala274Glu)
c.572C>A (p.Ala191Glu)
c.902C>A (p.Ala301Glu)
4g.99594795C>GCA357505775MTTPc.821C>G (p.Ala274Gly)
c.572C>G (p.Ala191Gly)
c.902C>G (p.Ala301Gly)
4g.99594795C>TCA357505776MTTPc.821C>T (p.Ala274Val)
c.572C>T (p.Ala191Val)
c.902C>T (p.Ala301Val)
4g.99594796A>CCA440329198MTTPc.822A>C (p.Ala274=)
c.573A>C (p.Ala191=)
c.903A>C (p.Ala301=)
4g.99594796A>GCA440329200MTTPc.822A>G (p.Ala274=)
c.573A>G (p.Ala191=)
c.903A>G (p.Ala301=)
 COSMIC
4g.99594796A>TCA440329199MTTPc.822A>T (p.Ala274=)
c.573A>T (p.Ala191=)
c.903A>T (p.Ala301=)
4g.99594797G>ACA357505778MTTPc.823G>A (p.Ala275Thr)
c.574G>A (p.Ala192Thr)
c.904G>A (p.Ala302Thr)
 dbSNP
4g.99594797G>CCA357505779MTTPc.823G>C (p.Ala275Pro)
c.574G>C (p.Ala192Pro)
c.904G>C (p.Ala302Pro)
4g.99594797G=CA1480076912MTTPc.823G= (p.Ala275=)
c.574G= (p.Ala192=)
c.904G= (p.Ala302=)
4g.99594797G>TCA357505777MTTPc.823G>T (p.Ala275Ser)
c.574G>T (p.Ala192Ser)
c.904G>T (p.Ala302Ser)
4g.99594798C>ACA357505780MTTPc.824C>A (p.Ala275Asp)
c.575C>A (p.Ala192Asp)
c.905C>A (p.Ala302Asp)
4g.99594798C>GCA357505782MTTPc.824C>G (p.Ala275Gly)
c.575C>G (p.Ala192Gly)
c.905C>G (p.Ala302Gly)
4g.99594798C>TCA357505781MTTPc.824C>T (p.Ala275Val)
c.575C>T (p.Ala192Val)
c.905C>T (p.Ala302Val)
4g.99594799C>ACA440329201MTTPc.825C>A (p.Ala275=)
c.576C>A (p.Ala192=)
c.906C>A (p.Ala302=)
4g.99594799C>GCA440329202MTTPc.825C>G (p.Ala275=)
c.576C>G (p.Ala192=)
c.906C>G (p.Ala302=)
 COSMIC
4g.99594799C>TCA440329203MTTPc.825C>T (p.Ala275=)
c.576C>T (p.Ala192=)
c.906C>T (p.Ala302=)
4g.99594800A=CA1480076913MTTPc.826A= (p.Ile276=)
c.577A= (p.Ile193=)
c.907A= (p.Ile303=)
4g.99594800A>CCA357505783MTTPc.826A>C (p.Ile276Leu)
c.577A>C (p.Ile193Leu)
c.907A>C (p.Ile303Leu)
4g.99594800A>GCA357505784MTTPc.826A>G (p.Ile276Val)
c.577A>G (p.Ile193Val)
c.907A>G (p.Ile303Val)
 ClinVar dbSNP gnomAD v4
4g.99594800A>TCA357505785MTTPc.826A>T (p.Ile276Leu)
c.577A>T (p.Ile193Leu)
c.907A>T (p.Ile303Leu)
4g.99594801T>ACA357505786MTTPc.827T>A (p.Ile276Lys)
c.578T>A (p.Ile193Lys)
c.908T>A (p.Ile303Lys)
4g.99594801T>CCA357505787MTTPc.827T>C (p.Ile276Thr)
c.578T>C (p.Ile193Thr)
c.908T>C (p.Ile303Thr)
4g.99594801T>GCA357505788MTTPc.827T>G (p.Ile276Arg)
c.578T>G (p.Ile193Arg)
c.908T>G (p.Ile303Arg)
4g.99594802A=CA1480076914MTTPc.828A= (p.Ile276=)
c.579A= (p.Ile193=)
c.909A= (p.Ile303=)
4g.99594802A>CCA440329204MTTPc.828A>C (p.Ile276=)
c.579A>C (p.Ile193=)
c.909A>C (p.Ile303=)
4g.99594802A>GCA357505789MTTPc.828A>G (p.Ile276Met)
c.579A>G (p.Ile193Met)
c.909A>G (p.Ile303Met)
 dbSNP
4g.99594802A>TCA440329205MTTPc.828A>T (p.Ile276=)
c.579A>T (p.Ile193=)
c.909A>T (p.Ile303=)
4g.99594803A>CCA357505790MTTPc.829A>C (p.Ile277Leu)
c.580A>C (p.Ile194Leu)
c.910A>C (p.Ile304Leu)
4g.99594803A>GCA357505791MTTPc.829A>G (p.Ile277Val)
c.580A>G (p.Ile194Val)
c.910A>G (p.Ile304Val)
4g.99594803A>TCA357505792MTTPc.829A>T (p.Ile277Phe)
c.580A>T (p.Ile194Phe)
c.910A>T (p.Ile304Phe)
4g.99594804T>ACA357505793MTTPc.830T>A (p.Ile277Asn)
c.581T>A (p.Ile194Asn)
c.911T>A (p.Ile304Asn)
 gnomAD v4
4g.99594804T>CCA357505794MTTPc.830T>C (p.Ile277Thr)
c.581T>C (p.Ile194Thr)
c.911T>C (p.Ile304Thr)
4g.99594804T>GCA357505795MTTPc.830T>G (p.Ile277Ser)
c.581T>G (p.Ile194Ser)
c.911T>G (p.Ile304Ser)
4g.99594805C>ACA440329207MTTPc.831C>A (p.Ile277=)
c.582C>A (p.Ile194=)
c.912C>A (p.Ile304=)
4g.99594805C>GCA357505796MTTPc.831C>G (p.Ile277Met)
c.582C>G (p.Ile194Met)
c.912C>G (p.Ile304Met)
 gnomAD v4
4g.99594805C>TCA440329206MTTPc.831C>T (p.Ile277=)
c.582C>T (p.Ile194=)
c.912C>T (p.Ile304=)
4g.99594806A>CCA357505797MTTPc.832A>C (p.Lys278Gln)
c.583A>C (p.Lys195Gln)
c.913A>C (p.Lys305Gln)
4g.99594806A>GCA357505798MTTPc.832A>G (p.Lys278Glu)
c.583A>G (p.Lys195Glu)
c.913A>G (p.Lys305Glu)
4g.99594806A>TCA357505799MTTPc.832A>T (p.Lys278Ter)
c.583A>T (p.Lys195Ter)
c.913A>T (p.Lys305Ter)
4g.99594807A=CA1480076915MTTPc.833A= (p.Lys278=)
c.584A= (p.Lys195=)
c.914A= (p.Lys305=)
4g.99594807A>CCA357505800MTTPc.833A>C (p.Lys278Thr)
c.584A>C (p.Lys195Thr)
c.914A>C (p.Lys305Thr)
4g.99594807A>GCA10622111MTTPc.833A>G (p.Lys278Arg)
c.584A>G (p.Lys195Arg)
c.914A>G (p.Lys305Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99594807A>TCA357505801MTTPc.833A>T (p.Lys278Ile)
c.584A>T (p.Lys195Ile)
c.914A>T (p.Lys305Ile)
4g.99594808A>CCA357505802MTTPc.834A>C (p.Lys278Asn)
c.585A>C (p.Lys195Asn)
c.915A>C (p.Lys305Asn)
4g.99594808A>GCA440329208MTTPc.834A>G (p.Lys278=)
c.585A>G (p.Lys195=)
c.915A>G (p.Lys305=)
4g.99594808A>TCA357505803MTTPc.834A>T (p.Lys278Asn)
c.585A>T (p.Lys195Asn)
c.915A>T (p.Lys305Asn)
4g.99594809G>ACA357505804MTTPc.835G>A (p.Ala279Thr)
c.586G>A (p.Ala196Thr)
c.916G>A (p.Ala306Thr)
4g.99594809G>CCA357505805MTTPc.835G>C (p.Ala279Pro)
c.586G>C (p.Ala196Pro)
c.916G>C (p.Ala306Pro)
4g.99594809G>TCA357505806MTTPc.835G>T (p.Ala279Ser)
c.586G>T (p.Ala196Ser)
c.916G>T (p.Ala306Ser)
4g.99594810C>ACA357505809MTTPc.836C>A (p.Ala279Glu)
c.587C>A (p.Ala196Glu)
c.917C>A (p.Ala306Glu)
4g.99594810C>GCA357505808MTTPc.836C>G (p.Ala279Gly)
c.587C>G (p.Ala196Gly)
c.917C>G (p.Ala306Gly)
4g.99594810C>TCA357505807MTTPc.836C>T (p.Ala279Val)
c.587C>T (p.Ala196Val)
c.917C>T (p.Ala306Val)
4g.99594811A>CCA440329209MTTPc.837A>C (p.Ala279=)
c.588A>C (p.Ala196=)
c.918A>C (p.Ala306=)
4g.99594811A>GCA440329210MTTPc.837A>G (p.Ala279=)
c.588A>G (p.Ala196=)
c.918A>G (p.Ala306=)
4g.99594811A>TCA440329211MTTPc.837A>T (p.Ala279=)
c.588A>T (p.Ala196=)
c.918A>T (p.Ala306=)
4g.99594812G>ACA357505810MTTPc.838G>A (p.Val280Ile)
c.589G>A (p.Val197Ile)
c.919G>A (p.Val307Ile)
 dbSNP gnomAD v2 gnomAD v4
4g.99594812G>CCA357505811MTTPc.838G>C (p.Val280Leu)
c.589G>C (p.Val197Leu)
c.919G>C (p.Val307Leu)
4g.99594812G=CA1480076916MTTPc.838G= (p.Val280=)
c.589G= (p.Val197=)
c.919G= (p.Val307=)
4g.99594812G>TCA357505812MTTPc.838G>T (p.Val280Phe)
c.589G>T (p.Val197Phe)
c.919G>T (p.Val307Phe)
4g.99594813T>ACA357505813MTTPc.839T>A (p.Val280Asp)
c.590T>A (p.Val197Asp)
c.920T>A (p.Val307Asp)
4g.99594813T>CCA357505814MTTPc.839T>C (p.Val280Ala)
c.590T>C (p.Val197Ala)
c.920T>C (p.Val307Ala)
 gnomAD v4
4g.99594813T>GCA357505815MTTPc.839T>G (p.Val280Gly)
c.590T>G (p.Val197Gly)
c.920T>G (p.Val307Gly)
4g.99594814T>ACA440329212MTTPc.840T>A (p.Val280=)
c.591T>A (p.Val197=)
c.921T>A (p.Val307=)
4g.99594814T>CCA440329213MTTPc.840T>C (p.Val280=)
c.591T>C (p.Val197=)
c.921T>C (p.Val307=)
4g.99594814T>GCA440329214MTTPc.840T>G (p.Val280=)
c.591T>G (p.Val197=)
c.921T>G (p.Val307=)
 dbSNP
4g.99594814T=CA1480076917MTTPc.840T= (p.Val280=)
c.591T= (p.Val197=)
c.921T= (p.Val307=)
4g.99594815G>ACA357505818MTTPc.841G>A (p.Asp281Asn)
c.592G>A (p.Asp198Asn)
c.922G>A (p.Asp308Asn)
 COSMIC
4g.99594815G>CCA357505816MTTPc.841G>C (p.Asp281His)
c.592G>C (p.Asp198His)
c.922G>C (p.Asp308His)
4g.99594815G=CA1480076918MTTPc.841G= (p.Asp281=)
c.592G= (p.Asp198=)
c.922G= (p.Asp308=)
4g.99594815G>TCA357505817MTTPc.841G>T (p.Asp281Tyr)
c.592G>T (p.Asp198Tyr)
c.922G>T (p.Asp308Tyr)
 dbSNP gnomAD v4
4g.99594816A>CCA357505819MTTPc.842A>C (p.Asp281Ala)
c.593A>C (p.Asp198Ala)
c.923A>C (p.Asp308Ala)
 gnomAD v4
4g.99594816A>GCA357505820MTTPc.842A>G (p.Asp281Gly)
c.593A>G (p.Asp198Gly)
c.923A>G (p.Asp308Gly)
4g.99594816A>TCA357505821MTTPc.842A>T (p.Asp281Val)
c.593A>T (p.Asp198Val)
c.923A>T (p.Asp308Val)
4g.99594817T>ACA357505822MTTPc.843T>A (p.Asp281Glu)
c.594T>A (p.Asp198Glu)
c.924T>A (p.Asp308Glu)
4g.99594817T>CCA440329215MTTPc.843T>C (p.Asp281=)
c.594T>C (p.Asp198=)
c.924T>C (p.Asp308=)
4g.99594817T>GCA357505823MTTPc.843T>G (p.Asp281Glu)
c.594T>G (p.Asp198Glu)
c.924T>G (p.Asp308Glu)
4g.99594818T>ACA357505824MTTPc.844T>A (p.Ser282Thr)
c.595T>A (p.Ser199Thr)
c.925T>A (p.Ser309Thr)
4g.99594818T>CCA357505826MTTPc.844T>C (p.Ser282Pro)
c.595T>C (p.Ser199Pro)
c.925T>C (p.Ser309Pro)
4g.99594818T>GCA357505825MTTPc.844T>G (p.Ser282Ala)
c.595T>G (p.Ser199Ala)
c.925T>G (p.Ser309Ala)
4g.99594819C>ACA357505827MTTPc.845C>A (p.Ser282Ter)
c.596C>A (p.Ser199Ter)
c.926C>A (p.Ser309Ter)
4g.99594819C>GCA357505828MTTPc.845C>G (p.Ser282Ter)
c.596C>G (p.Ser199Ter)
c.926C>G (p.Ser309Ter)
4g.99594819C>TCA357505829MTTPc.845C>T (p.Ser282Leu)
c.596C>T (p.Ser199Leu)
c.926C>T (p.Ser309Leu)
4g.99594820A>CCA440329216MTTPc.846A>C (p.Ser282=)
c.597A>C (p.Ser199=)
c.927A>C (p.Ser309=)
 dbSNP gnomAD v3 gnomAD v4
4g.99594820A>GCA440329217MTTPc.846A>G (p.Ser282=)
c.597A>G (p.Ser199=)
c.927A>G (p.Ser309=)
4g.99594820A>TCA440329218MTTPc.846A>T (p.Ser282=)
c.597A>T (p.Ser199=)
c.927A>T (p.Ser309=)
4g.99594821A>CCA357505830MTTPc.847A>C (p.Lys283Gln)
c.598A>C (p.Lys200Gln)
c.928A>C (p.Lys310Gln)
4g.99594821A>GCA357505831MTTPc.847A>G (p.Lys283Glu)
c.598A>G (p.Lys200Glu)
c.928A>G (p.Lys310Glu)
4g.99594821A>TCA357505832MTTPc.847A>T (p.Lys283Ter)
c.598A>T (p.Lys200Ter)
c.928A>T (p.Lys310Ter)
4g.99594822A>CCA357505833MTTPc.848A>C (p.Lys283Thr)
c.599A>C (p.Lys200Thr)
c.929A>C (p.Lys310Thr)
 gnomAD v4
4g.99594822A>GCA357505834MTTPc.848A>G (p.Lys283Arg)
c.599A>G (p.Lys200Arg)
c.929A>G (p.Lys310Arg)
4g.99594822A>TCA357505835MTTPc.848A>T (p.Lys283Met)
c.599A>T (p.Lys200Met)
c.929A>T (p.Lys310Met)
4g.99594823G>ACA440329219MTTPc.849G>A (p.Lys283=)
c.600G>A (p.Lys200=)
c.930G>A (p.Lys310=)
4g.99594823G>CCA357505836MTTPc.849G>C (p.Lys283Asn)
c.600G>C (p.Lys200Asn)
c.930G>C (p.Lys310Asn)
4g.99594823G>TCA357505837MTTPc.849G>T (p.Lys283Asn)
c.600G>T (p.Lys200Asn)
c.930G>T (p.Lys310Asn)
4g.99594824T>ACA357505839MTTPc.850T>A (p.Tyr284Asn)
c.601T>A (p.Tyr201Asn)
c.931T>A (p.Tyr311Asn)
4g.99594824T>CCA357505840MTTPc.850T>C (p.Tyr284His)
c.601T>C (p.Tyr201His)
c.931T>C (p.Tyr311His)
4g.99594824T>GCA357505838MTTPc.850T>G (p.Tyr284Asp)
c.601T>G (p.Tyr201Asp)
c.931T>G (p.Tyr311Asp)
4g.99594825A>CCA357505842MTTPc.851A>C (p.Tyr284Ser)
c.602A>C (p.Tyr201Ser)
c.932A>C (p.Tyr311Ser)
4g.99594825A>GCA357505841MTTPc.851A>G (p.Tyr284Cys)
c.602A>G (p.Tyr201Cys)
c.932A>G (p.Tyr311Cys)
4g.99594825A>TCA357505843MTTPc.851A>T (p.Tyr284Phe)
c.602A>T (p.Tyr201Phe)
c.932A>T (p.Tyr311Phe)
4g.99594826C>ACA357505844MTTPc.852C>A (p.Tyr284Ter)
c.603C>A (p.Tyr201Ter)
c.933C>A (p.Tyr311Ter)
4g.99594826C>GCA357505845MTTPc.852C>G (p.Tyr284Ter)
c.603C>G (p.Tyr201Ter)
c.933C>G (p.Tyr311Ter)
4g.99594826C>TCA440329220MTTPc.852C>T (p.Tyr284=)
c.603C>T (p.Tyr201=)
c.933C>T (p.Tyr311=)
4g.99594827A>CCA357505846MTTPc.853A>C (p.Thr285Pro)
c.604A>C (p.Thr202Pro)
c.934A>C (p.Thr312Pro)
4g.99594827A>GCA357505848MTTPc.853A>G (p.Thr285Ala)
c.604A>G (p.Thr202Ala)
c.934A>G (p.Thr312Ala)
4g.99594827A>TCA357505847MTTPc.853A>T (p.Thr285Ser)
c.604A>T (p.Thr202Ser)
c.934A>T (p.Thr312Ser)
4g.99594828C>ACA357505849MTTPc.854C>A (p.Thr285Lys)
c.605C>A (p.Thr202Lys)
c.935C>A (p.Thr312Lys)
4g.99594828C=CA1480076919MTTPc.854C= (p.Thr285=)
c.605C= (p.Thr202=)
c.935C= (p.Thr312=)
4g.99594828C>GCA3021958MTTPc.854C>G (p.Thr285Arg)
c.605C>G (p.Thr202Arg)
c.935C>G (p.Thr312Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99594828C>TCA3021959MTTPc.854C>T (p.Thr285Met)
c.605C>T (p.Thr202Met)
c.935C>T (p.Thr312Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.99594829G>ACA3021960MTTPc.855G>A (p.Thr285=)
c.606G>A (p.Thr202=)
c.936G>A (p.Thr312=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.99594829G>CCA440329221MTTPc.855G>C (p.Thr285=)
c.606G>C (p.Thr202=)
c.936G>C (p.Thr312=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99594829G=CA1480076920MTTPc.855G= (p.Thr285=)
c.606G= (p.Thr202=)
c.936G= (p.Thr312=)
4g.99594829G>TCA440329222MTTPc.855G>T (p.Thr285=)
c.606G>T (p.Thr202=)
c.936G>T (p.Thr312=)
 gnomAD v4
4g.99594830G>ACA3021961MTTPc.856G>A (p.Ala286Thr)
c.607G>A (p.Ala203Thr)
c.937G>A (p.Ala313Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99594830G>CCA357505850MTTPc.856G>C (p.Ala286Pro)
c.607G>C (p.Ala203Pro)
c.937G>C (p.Ala313Pro)
4g.99594830G=CA1480076921MTTPc.856G= (p.Ala286=)
c.607G= (p.Ala203=)
c.937G= (p.Ala313=)
4g.99594830G>TCA357505851MTTPc.856G>T (p.Ala286Ser)
c.607G>T (p.Ala203Ser)
c.937G>T (p.Ala313Ser)
4g.99594830_99594831delinsGCCA1480076922MTTPc.856_857delinsGC (p.Ala286=)
c.607_608delinsGC (p.Ala203=)
c.937_938delinsGC (p.Ala313=)
4g.99594831C>ACA357505852MTTPc.857C>A (p.Ala286Asp)
c.608C>A (p.Ala203Asp)
c.938C>A (p.Ala313Asp)
 gnomAD v4
4g.99594831C>GCA357505853MTTPc.857C>G (p.Ala286Gly)
c.608C>G (p.Ala203Gly)
c.938C>G (p.Ala313Gly)
4g.99594831C>TCA357505854MTTPc.857C>T (p.Ala286Val)
c.608C>T (p.Ala203Val)
c.938C>T (p.Ala313Val)
 gnomAD v4
4g.99594832delCA916082652MTTPc.858del (p.Ile287PhefsTer?)
c.609del (p.Ile204PhefsTer?)
c.939del (p.Ile314PhefsTer?)
 ClinVar dbSNP
4g.99594832C>ACA440329223MTTPc.858C>A (p.Ala286=)
c.609C>A (p.Ala203=)
c.939C>A (p.Ala313=)
4g.99594832C=CA1480076923MTTPc.858C= (p.Ala286=)
c.609C= (p.Ala203=)
c.939C= (p.Ala313=)
4g.99594832C>GCA440329224MTTPc.858C>G (p.Ala286=)
c.609C>G (p.Ala203=)
c.939C>G (p.Ala313=)
4g.99594832C>TCA440329225MTTPc.858C>T (p.Ala286=)
c.609C>T (p.Ala203=)
c.939C>T (p.Ala313=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.99594833A>CCA357505855MTTPc.859A>C (p.Ile287Leu)
c.610A>C (p.Ile204Leu)
c.940A>C (p.Ile314Leu)
4g.99594833A>GCA357505856MTTPc.859A>G (p.Ile287Val)
c.610A>G (p.Ile204Val)
c.940A>G (p.Ile314Val)
4g.99594833A>TCA357505857MTTPc.859A>T (p.Ile287Phe)
c.610A>T (p.Ile204Phe)
c.940A>T (p.Ile314Phe)
4g.99594834T>ACA357505858MTTPc.860T>A (p.Ile287Asn)
c.611T>A (p.Ile204Asn)
c.941T>A (p.Ile314Asn)
4g.99594834T>CCA357505859MTTPc.860T>C (p.Ile287Thr)
c.611T>C (p.Ile204Thr)
c.941T>C (p.Ile314Thr)
 gnomAD v4
4g.99594834T>GCA357505860MTTPc.860T>G (p.Ile287Ser)
c.611T>G (p.Ile204Ser)
c.941T>G (p.Ile314Ser)
4g.99594835T>ACA440329226MTTPc.861T>A (p.Ile287=)
c.612T>A (p.Ile204=)
c.942T>A (p.Ile314=)
4g.99594835T>CCA440329227MTTPc.861T>C (p.Ile287=)
c.612T>C (p.Ile204=)
c.942T>C (p.Ile314=)
4g.99594835T>GCA357505861MTTPc.861T>G (p.Ile287Met)
c.612T>G (p.Ile204Met)
c.942T>G (p.Ile314Met)
4g.99594836C>ACA357505862MTTPc.862C>A (p.Pro288Thr)
c.613C>A (p.Pro205Thr)
c.943C>A (p.Pro315Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99594836C=CA1480076924MTTPc.862C= (p.Pro288=)
c.613C= (p.Pro205=)
c.943C= (p.Pro315=)
4g.99594836C>GCA357505863MTTPc.862C>G (p.Pro288Ala)
c.613C>G (p.Pro205Ala)
c.943C>G (p.Pro315Ala)
4g.99594836C>TCA357505864MTTPc.862C>T (p.Pro288Ser)
c.613C>T (p.Pro205Ser)
c.943C>T (p.Pro315Ser)
4g.99594837C>ACA102627298MTTPc.863C>A (p.Pro288His)
c.614C>A (p.Pro205His)
c.944C>A (p.Pro315His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.99594837C=CA1480076925MTTPc.863C= (p.Pro288=)
c.614C= (p.Pro205=)
c.944C= (p.Pro315=)
4g.99594837C>GCA357505866MTTPc.863C>G (p.Pro288Arg)
c.614C>G (p.Pro205Arg)
c.944C>G (p.Pro315Arg)
4g.99594837C>TCA357505865MTTPc.863C>T (p.Pro288Leu)
c.614C>T (p.Pro205Leu)
c.944C>T (p.Pro315Leu)
4g.99594838C>ACA440329228MTTPc.864C>A (p.Pro288=)
c.615C>A (p.Pro205=)
c.945C>A (p.Pro315=)
4g.99594838C>GCA440329229MTTPc.864C>G (p.Pro288=)
c.615C>G (p.Pro205=)
c.945C>G (p.Pro315=)
4g.99594838C>TCA440329230MTTPc.864C>T (p.Pro288=)
c.615C>T (p.Pro205=)
c.945C>T (p.Pro315=)
4g.99594839A>CCA357505867MTTPc.865A>C (p.Ile289Leu)
c.616A>C (p.Ile206Leu)
c.946A>C (p.Ile316Leu)
4g.99594839A>GCA357505868MTTPc.865A>G (p.Ile289Val)
c.616A>G (p.Ile206Val)
c.946A>G (p.Ile316Val)
4g.99594839A>TCA357505869MTTPc.865A>T (p.Ile289Phe)
c.616A>T (p.Ile206Phe)
c.946A>T (p.Ile316Phe)
4g.99594840T>ACA357505870MTTPc.866T>A (p.Ile289Asn)
c.617T>A (p.Ile206Asn)
c.947T>A (p.Ile316Asn)
4g.99594840T>CCA3021962MTTPc.866T>C (p.Ile289Thr)
c.617T>C (p.Ile206Thr)
c.947T>C (p.Ile316Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.99594840T>GCA357505871MTTPc.866T>G (p.Ile289Ser)
c.617T>G (p.Ile206Ser)
c.947T>G (p.Ile316Ser)
4g.99594840T=CA1480076926MTTPc.866T= (p.Ile289=)
c.617T= (p.Ile206=)
c.947T= (p.Ile316=)
4g.99594841T>ACA440329231MTTPc.867T>A (p.Ile289=)
c.618T>A (p.Ile206=)
c.948T>A (p.Ile316=)
4g.99594841T>CCA440329232MTTPc.867T>C (p.Ile289=)
c.618T>C (p.Ile206=)
c.948T>C (p.Ile316=)
 gnomAD v4
4g.99594841T>GCA357505872MTTPc.867T>G (p.Ile289Met)
c.618T>G (p.Ile206Met)
c.948T>G (p.Ile316Met)
 gnomAD v4
4g.99594842G>ACA357505873MTTPc.868G>A (p.Val290Met)
c.619G>A (p.Val207Met)
c.949G>A (p.Val317Met)
4g.99594842G>CCA357505874MTTPc.868G>C (p.Val290Leu)
c.619G>C (p.Val207Leu)
c.949G>C (p.Val317Leu)
4g.99594842G>TCA357505875MTTPc.868G>T (p.Val290Leu)
c.619G>T (p.Val207Leu)
c.949G>T (p.Val317Leu)
4g.99594843T>ACA357505878MTTPc.869T>A (p.Val290Glu)
c.620T>A (p.Val207Glu)
c.950T>A (p.Val317Glu)
4g.99594843T>CCA357505877MTTPc.869T>C (p.Val290Ala)
c.620T>C (p.Val207Ala)
c.950T>C (p.Val317Ala)
4g.99594843T>GCA357505876MTTPc.869T>G (p.Val290Gly)
c.620T>G (p.Val207Gly)
c.950T>G (p.Val317Gly)
4g.99594844G>ACA440329233MTTPc.870G>A (p.Val290=)
c.621G>A (p.Val207=)
c.951G>A (p.Val317=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.99594844G>CCA440329234MTTPc.870G>C (p.Val290=)
c.621G>C (p.Val207=)
c.951G>C (p.Val317=)
4g.99594844G=CA1480076927MTTPc.870G= (p.Val290=)
c.621G= (p.Val207=)
c.951G= (p.Val317=)
4g.99594844G>TCA440329235MTTPc.870G>T (p.Val290=)
c.621G>T (p.Val207=)
c.951G>T (p.Val317=)
4g.99594845G>ACA357505879MTTPc.871G>A (p.Gly291Arg)
c.622G>A (p.Gly208Arg)
c.952G>A (p.Gly318Arg)
 COSMIC
4g.99594845G>CCA357505880MTTPc.871G>C (p.Gly291Arg)
c.622G>C (p.Gly208Arg)
c.952G>C (p.Gly318Arg)
4g.99594845G>TCA357505881MTTPc.871G>T (p.Gly291Trp)
c.622G>T (p.Gly208Trp)
c.952G>T (p.Gly318Trp)
4g.99594846G>ACA357505882MTTPc.872G>A (p.Gly291Glu)
c.623G>A (p.Gly208Glu)
c.953G>A (p.Gly318Glu)
 gnomAD v4
4g.99594846G>CCA357505883MTTPc.872G>C (p.Gly291Ala)
c.623G>C (p.Gly208Ala)
c.953G>C (p.Gly318Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99594846G=CA1480076928MTTPc.872G= (p.Gly291=)
c.623G= (p.Gly208=)
c.953G= (p.Gly318=)
4g.99594846G>TCA357505884MTTPc.872G>T (p.Gly291Val)
c.623G>T (p.Gly208Val)
c.953G>T (p.Gly318Val)
4g.99594847G>ACA440329238MTTPc.873G>A (p.Gly291=)
c.624G>A (p.Gly208=)
c.954G>A (p.Gly318=)
4g.99594847G>CCA440329236MTTPc.873G>C (p.Gly291=)
c.624G>C (p.Gly208=)
c.954G>C (p.Gly318=)
4g.99594847G>TCA440329237MTTPc.873G>T (p.Gly291=)
c.624G>T (p.Gly208=)
c.954G>T (p.Gly318=)
4g.99594848C>ACA357505885MTTPc.874C>A (p.Gln292Lys)
c.625C>A (p.Gln209Lys)
c.955C>A (p.Gln319Lys)
4g.99594848C>GCA357505886MTTPc.874C>G (p.Gln292Glu)
c.625C>G (p.Gln209Glu)
c.955C>G (p.Gln319Glu)
4g.99594848C>TCA357505887MTTPc.874C>T (p.Gln292Ter)
c.625C>T (p.Gln209Ter)
c.955C>T (p.Gln319Ter)
4g.99594849A=CA1480076929MTTPc.875A= (p.Gln292=)
c.626A= (p.Gln209=)
c.956A= (p.Gln319=)
4g.99594849A>CCA357505888MTTPc.875A>C (p.Gln292Pro)
c.626A>C (p.Gln209Pro)
c.956A>C (p.Gln319Pro)
4g.99594849A>GCA3021963MTTPc.875A>G (p.Gln292Arg)
c.626A>G (p.Gln209Arg)
c.956A>G (p.Gln319Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99594849A>TCA357505889MTTPc.875A>T (p.Gln292Leu)
c.626A>T (p.Gln209Leu)
c.956A>T (p.Gln319Leu)
4g.99594850G>ACA3021964MTTPc.876G>A (p.Gln292=)
c.627G>A (p.Gln209=)
c.957G>A (p.Gln319=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.99594850G>CCA357505890MTTPc.876G>C (p.Gln292His)
c.627G>C (p.Gln209His)
c.957G>C (p.Gln319His)
4g.99594850G=CA1480076930MTTPc.876G= (p.Gln292=)
c.627G= (p.Gln209=)
c.957G= (p.Gln319=)
4g.99594850G>TCA357505891MTTPc.876G>T (p.Gln292His)
c.627G>T (p.Gln209His)
c.957G>T (p.Gln319His)
4g.99594851G>ACA357505892MTTPc.877G>A (p.Val293Ile)
c.628G>A (p.Val210Ile)
c.958G>A (p.Val320Ile)
 dbSNP gnomAD v3 gnomAD v4
4g.99594851G>CCA357505893MTTPc.877G>C (p.Val293Leu)
c.628G>C (p.Val210Leu)
c.958G>C (p.Val320Leu)
4g.99594851G=CA1480076931MTTPc.877G= (p.Val293=)
c.628G= (p.Val210=)
c.958G= (p.Val320=)
4g.99594851G>TCA3021965MTTPc.877G>T (p.Val293Phe)
c.628G>T (p.Val210Phe)
c.958G>T (p.Val320Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99594852T>ACA357505894MTTPc.878T>A (p.Val293Asp)
c.629T>A (p.Val210Asp)
c.959T>A (p.Val320Asp)
 gnomAD v4
4g.99594852T>CCA357505895MTTPc.878T>C (p.Val293Ala)
c.629T>C (p.Val210Ala)
c.959T>C (p.Val320Ala)
4g.99594852T>GCA357505896MTTPc.878T>G (p.Val293Gly)
c.629T>G (p.Val210Gly)
c.959T>G (p.Val320Gly)
4g.99594853C>ACA440329239MTTPc.879C>A (p.Val293=)
c.630C>A (p.Val210=)
c.960C>A (p.Val320=)
4g.99594853C=CA1480076932MTTPc.879C= (p.Val293=)
c.630C= (p.Val210=)
c.960C= (p.Val320=)
4g.99594853C>GCA440329241MTTPc.879C>G (p.Val293=)
c.630C>G (p.Val210=)
c.960C>G (p.Val320=)
 dbSNP gnomAD v3 gnomAD v4
4g.99594853C>TCA440329240MTTPc.879C>T (p.Val293=)
c.630C>T (p.Val210=)
c.960C>T (p.Val320=)
4g.99594854T>ACA357505897MTTPc.880T>A (p.Phe294Ile)
c.631T>A (p.Phe211Ile)
c.961T>A (p.Phe321Ile)
4g.99594854T>CCA357505898MTTPc.880T>C (p.Phe294Leu)
c.631T>C (p.Phe211Leu)
c.961T>C (p.Phe321Leu)
4g.99594854T>GCA357505899MTTPc.880T>G (p.Phe294Val)
c.631T>G (p.Phe211Val)
c.961T>G (p.Phe321Val)
4g.99594855T>ACA357505900MTTPc.881T>A (p.Phe294Tyr)
c.632T>A (p.Phe211Tyr)
c.962T>A (p.Phe321Tyr)
 gnomAD v4
4g.99594855T>CCA357505901MTTPc.881T>C (p.Phe294Ser)
c.632T>C (p.Phe211Ser)
c.962T>C (p.Phe321Ser)
4g.99594855T>GCA357505902MTTPc.881T>G (p.Phe294Cys)
c.632T>G (p.Phe211Cys)
c.962T>G (p.Phe321Cys)
4g.99594856C>ACA357505903MTTPc.882C>A (p.Phe294Leu)
c.633C>A (p.Phe211Leu)
c.963C>A (p.Phe321Leu)
4g.99594856C=CA1480076933MTTPc.882C= (p.Phe294=)
c.633C= (p.Phe211=)
c.963C= (p.Phe321=)
4g.99594856C>GCA357505904MTTPc.882C>G (p.Phe294Leu)
c.633C>G (p.Phe211Leu)
c.963C>G (p.Phe321Leu)
 dbSNP gnomAD v3 gnomAD v4
4g.99594856C>TCA440329242MTTPc.882C>T (p.Phe294=)
c.633C>T (p.Phe211=)
c.963C>T (p.Phe321=)
 dbSNP gnomAD v4
4g.99594857C>ACA357505905MTTPc.883C>A (p.Gln295Lys)
c.634C>A (p.Gln212Lys)
c.964C>A (p.Gln322Lys)
4g.99594857C>GCA357505907MTTPc.883C>G (p.Gln295Glu)
c.634C>G (p.Gln212Glu)
c.964C>G (p.Gln322Glu)
4g.99594857C>TCA357505906MTTPc.883C>T (p.Gln295Ter)
c.634C>T (p.Gln212Ter)
c.964C>T (p.Gln322Ter)
4g.99594858A>CCA357505908MTTPc.884A>C (p.Gln295Pro)
c.635A>C (p.Gln212Pro)
c.965A>C (p.Gln322Pro)
4g.99594858A>GCA357505909MTTPc.884A>G (p.Gln295Arg)
c.635A>G (p.Gln212Arg)
c.965A>G (p.Gln322Arg)
4g.99594858A>TCA357505910MTTPc.884A>T (p.Gln295Leu)
c.635A>T (p.Gln212Leu)
c.965A>T (p.Gln322Leu)
4g.99594859G>ACA440329243MTTPc.885G>A (p.Gln295=)
c.636G>A (p.Gln212=)
c.966G>A (p.Gln322=)
4g.99594859G>CCA357505911MTTPc.885G>C (p.Gln295His)
c.636G>C (p.Gln212His)
c.966G>C (p.Gln322His)
4g.99594859G>TCA357505912MTTPc.885G>T (p.Gln295His)
c.636G>T (p.Gln212His)
c.966G>T (p.Gln322His)
4g.99594860A=CA1480076934MTTPc.886A= (p.Ser296=)
c.637A= (p.Ser213=)
c.967A= (p.Ser323=)
4g.99594860A>CCA357505913MTTPc.886A>C (p.Ser296Arg)
c.637A>C (p.Ser213Arg)
c.967A>C (p.Ser323Arg)
 dbSNP gnomAD v4
4g.99594860A>GCA357505914MTTPc.886A>G (p.Ser296Gly)
c.637A>G (p.Ser213Gly)
c.967A>G (p.Ser323Gly)
4g.99594860A>TCA357505915MTTPc.886A>T (p.Ser296Cys)
c.637A>T (p.Ser213Cys)
c.967A>T (p.Ser323Cys)
4g.99594861G>ACA357505916MTTPc.887G>A (p.Ser296Asn)
c.638G>A (p.Ser213Asn)
c.968G>A (p.Ser323Asn)
 gnomAD v4
4g.99594861G>CCA357505917MTTPc.887G>C (p.Ser296Thr)
c.638G>C (p.Ser213Thr)
c.968G>C (p.Ser323Thr)
4g.99594861G>TCA357505918MTTPc.887G>T (p.Ser296Ile)
c.638G>T (p.Ser213Ile)
c.968G>T (p.Ser323Ile)
4g.99594862C>ACA357505920MTTPc.888C>A (p.Ser296Arg)
c.639C>A (p.Ser213Arg)
c.969C>A (p.Ser323Arg)
4g.99594862C>GCA357505919MTTPc.888C>G (p.Ser296Arg)
c.639C>G (p.Ser213Arg)
c.969C>G (p.Ser323Arg)
4g.99594862C>TCA440329244MTTPc.888C>T (p.Ser296=)
c.639C>T (p.Ser213=)
c.969C>T (p.Ser323=)
 gnomAD v4
4g.99594863C>ACA357505921MTTPc.889C>A (p.His297Asn)
c.640C>A (p.His214Asn)
c.970C>A (p.His324Asn)
4g.99594863C>GCA357505922MTTPc.889C>G (p.His297Asp)
c.640C>G (p.His214Asp)
c.970C>G (p.His324Asp)
4g.99594863C>TCA357505923MTTPc.889C>T (p.His297Tyr)
c.640C>T (p.His214Tyr)
c.970C>T (p.His324Tyr)
4g.99594864A>CCA357505924MTTPc.890A>C (p.His297Pro)
c.641A>C (p.His214Pro)
c.971A>C (p.His324Pro)
4g.99594864A>GCA357505925MTTPc.890A>G (p.His297Arg)
c.641A>G (p.His214Arg)
c.971A>G (p.His324Arg)
4g.99594864A>TCA357505926MTTPc.890A>T (p.His297Leu)
c.641A>T (p.His214Leu)
c.971A>T (p.His324Leu)
4g.99594865C>ACA357505927MTTPc.891C>A (p.His297Gln)
c.642C>A (p.His214Gln)
c.972C>A (p.His324Gln)
4g.99594865C=CA1480076935MTTPc.891C= (p.His297=)
c.642C= (p.His214=)
c.972C= (p.His324=)
4g.99594865C>GCA153731MTTPc.891C>G (p.His297Gln)
c.642C>G (p.His214Gln)
c.972C>G (p.His324Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99594865C>TCA440329245MTTPc.891C>T (p.His297=)
c.642C>T (p.His214=)
c.972C>T (p.His324=)
4g.99594865_99594866insGGGGGGGGGGGCA1065944231MTTPc.891_892insGGGGGGGGGGG (p.Cys298GlyfsTer?)
c.642_643insGGGGGGGGGGG (p.Cys215GlyfsTer?)
c.972_973insGGGGGGGGGGG (p.Cys325GlyfsTer?)
 gnomAD v3 gnomAD v4
4g.99594866T>ACA357505928MTTPc.892T>A (p.Cys298Ser)
c.643T>A (p.Cys215Ser)
c.973T>A (p.Cys325Ser)
4g.99594866T>CCA357505929MTTPc.892T>C (p.Cys298Arg)
c.643T>C (p.Cys215Arg)
c.973T>C (p.Cys325Arg)
4g.99594866T>GCA357505930MTTPc.892T>G (p.Cys298Gly)
c.643T>G (p.Cys215Gly)
c.973T>G (p.Cys325Gly)
 dbSNP
4g.99594866T=CA1480076936MTTPc.892T= (p.Cys298=)
c.643T= (p.Cys215=)
c.973T= (p.Cys325=)
4g.99594867G>ACA357505932MTTPc.893G>A (p.Cys298Tyr)
c.644G>A (p.Cys215Tyr)
c.974G>A (p.Cys325Tyr)
 dbSNP
4g.99594867G>CCA357505933MTTPc.893G>C (p.Cys298Ser)
c.644G>C (p.Cys215Ser)
c.974G>C (p.Cys325Ser)
4g.99594867G=CA1480076937MTTPc.893G= (p.Cys298=)
c.644G= (p.Cys215=)
c.974G= (p.Cys325=)
4g.99594867G>TCA357505931MTTPc.893G>T (p.Cys298Phe)
c.644G>T (p.Cys215Phe)
c.974G>T (p.Cys325Phe)
4g.99594868T>ACA357505934MTTPc.894T>A (p.Cys298Ter)
c.645T>A (p.Cys215Ter)
c.975T>A (p.Cys325Ter)
4g.99594868T>CCA440329246MTTPc.894T>C (p.Cys298=)
c.645T>C (p.Cys215=)
c.975T>C (p.Cys325=)
4g.99594868T>GCA357505935MTTPc.894T>G (p.Cys298Trp)
c.645T>G (p.Cys215Trp)
c.975T>G (p.Cys325Trp)
4g.99594869A>CCA357505936MTTPc.895A>C (p.Lys299Gln)
c.646A>C (p.Lys216Gln)
c.976A>C (p.Lys326Gln)
4g.99594869A>GCA357505937MTTPc.895A>G (p.Lys299Glu)
c.646A>G (p.Lys216Glu)
c.976A>G (p.Lys326Glu)
 gnomAD v4
4g.99594869A>TCA357505938MTTPc.895A>T (p.Lys299Ter)
c.646A>T (p.Lys216Ter)
c.976A>T (p.Lys326Ter)
4g.99594870A>CCA357505941MTTPc.896A>C (p.Lys299Thr)
c.647A>C (p.Lys216Thr)
c.977A>C (p.Lys326Thr)
4g.99594870A>GCA357505939MTTPc.896A>G (p.Lys299Arg)
c.647A>G (p.Lys216Arg)
c.977A>G (p.Lys326Arg)
4g.99594870A>TCA357505940MTTPc.896A>T (p.Lys299Ile)
c.647A>T (p.Lys216Ile)
c.977A>T (p.Lys326Ile)
4g.99594871A>CCA357505942MTTPc.897A>C (p.Lys299Asn)
c.648A>C (p.Lys216Asn)
c.978A>C (p.Lys326Asn)
4g.99594871A>GCA440329247MTTPc.897A>G (p.Lys299=)
c.648A>G (p.Lys216=)
c.978A>G (p.Lys326=)
4g.99594871A>TCA357505943MTTPc.897A>T (p.Lys299Asn)
c.648A>T (p.Lys216Asn)
c.978A>T (p.Lys326Asn)

Number of alleles fetched