Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.80280098_80280105delinsCAATCAAGCA1922577761MAT1Ac.549+68_549+75delinsCTTGATTG (n.549+68_549+75delinsCTTGATTG)
c.360+68_360+75delinsCTTGATTG (n.360+68_360+75delinsCTTGATTG)
c.426+68_426+75delinsCTTGATTG (n.426+68_426+75delinsCTTGATTG)
10g.80280107_80280113delCA668888247MAT1Ac.549+68_549+74del (n.549+68_549+74del)
c.360+68_360+74del (n.360+68_360+74del)
c.426+68_426+74del (n.426+68_426+74del)
 dbSNP gnomAD v3 gnomAD v4
10g.80280104A=CA1922577768MAT1Ac.549+69T= (n.549+69T=)
c.360+69T= (n.360+69T=)
c.426+69T= (n.426+69T=)
10g.80280104A>CCA210326744MAT1Ac.549+69T>G (n.549+69T>G)
c.360+69T>G (n.360+69T>G)
c.426+69T>G (n.426+69T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80280105G>TCA2609913817MAT1Ac.549+68C>A (n.549+68C>A)
c.360+68C>A (n.360+68C>A)
c.426+68C>A (n.426+68C>A)
 gnomAD v4
10g.80280107A>TCA2722252482MAT1Ac.549+66T>A (n.549+66T>A)
c.360+66T>A (n.360+66T>A)
c.426+66T>A (n.426+66T>A)
 dbSNP
10g.80280108T>CCA2609913818MAT1Ac.549+65A>G (n.549+65A>G)
c.360+65A>G (n.360+65A>G)
c.426+65A>G (n.426+65A>G)
 gnomAD v4
10g.80280109C=CA1922577770MAT1Ac.549+64G= (n.549+64G=)
c.360+64G= (n.360+64G=)
c.426+64G= (n.426+64G=)
10g.80280109C>GCA930360213MAT1Ac.549+64G>C (n.549+64G>C)
c.360+64G>C (n.360+64G>C)
c.426+64G>C (n.426+64G>C)
 dbSNP gnomAD v3 gnomAD v4
10g.80280109C>TCA1922577771MAT1Ac.549+64G>A (n.549+64G>A)
c.360+64G>A (n.360+64G>A)
c.426+64G>A (n.426+64G>A)
 dbSNP gnomAD v4
10g.80280110A>GCA2609913819MAT1Ac.549+63T>C (n.549+63T>C)
c.360+63T>C (n.360+63T>C)
c.426+63T>C (n.426+63T>C)
 gnomAD v4
10g.80280112G>CCA2574455890MAT1Ac.549+61C>G (n.549+61C>G)
c.360+61C>G (n.360+61C>G)
c.426+61C>G (n.426+61C>G)
10g.80280113A>GCA2609913820MAT1Ac.549+60T>C (n.549+60T>C)
c.360+60T>C (n.360+60T>C)
c.426+60T>C (n.426+60T>C)
 gnomAD v4
10g.80280115G=CA1922577773MAT1Ac.549+58C= (n.549+58C=)
c.360+58C= (n.360+58C=)
c.426+58C= (n.426+58C=)
10g.80280115G>TCA210326753MAT1Ac.549+58C>A (n.549+58C>A)
c.360+58C>A (n.360+58C>A)
c.426+58C>A (n.426+58C>A)
 dbSNP gnomAD v4
10g.80280117T>CCA1922577776MAT1Ac.549+56A>G (n.549+56A>G)
c.360+56A>G (n.360+56A>G)
c.426+56A>G (n.426+56A>G)
 dbSNP
10g.80280117T>GCA2609913821MAT1Ac.549+56A>C (n.549+56A>C)
c.360+56A>C (n.360+56A>C)
c.426+56A>C (n.426+56A>C)
 gnomAD v4
10g.80280117T=CA1922577775MAT1Ac.549+56A= (n.549+56A=)
c.360+56A= (n.360+56A=)
c.426+56A= (n.426+56A=)
10g.80280118T>GCA2609913822MAT1Ac.549+55A>C (n.549+55A>C)
c.360+55A>C (n.360+55A>C)
c.426+55A>C (n.426+55A>C)
 gnomAD v4
10g.80280119T>GCA668888260MAT1Ac.549+54A>C (n.549+54A>C)
c.360+54A>C (n.360+54A>C)
c.426+54A>C (n.426+54A>C)
 dbSNP gnomAD v3 gnomAD v4
10g.80280119T=CA1922577777MAT1Ac.549+54A= (n.549+54A=)
c.360+54A= (n.360+54A=)
c.426+54A= (n.426+54A=)
10g.80280120G>ACA2609913824MAT1Ac.549+53C>T (n.549+53C>T)
c.360+53C>T (n.360+53C>T)
c.426+53C>T (n.426+53C>T)
 gnomAD v4
10g.80280120G=CA1922577780MAT1Ac.549+53C= (n.549+53C=)
c.360+53C= (n.360+53C=)
c.426+53C= (n.426+53C=)
10g.80280120G>TCA1922577781MAT1Ac.549+53C>A (n.549+53C>A)
c.360+53C>A (n.360+53C>A)
c.426+53C>A (n.426+53C>A)
 dbSNP gnomAD v4
10g.80280124delCA2609913823MAT1Ac.549+53del (n.549+53del)
c.360+53del (n.360+53del)
c.426+53del (n.426+53del)
 gnomAD v4
10g.80280121G>ACA2609913825MAT1Ac.549+52C>T (n.549+52C>T)
c.360+52C>T (n.360+52C>T)
c.426+52C>T (n.426+52C>T)
 gnomAD v4
10g.80280121G>CCA210326759MAT1Ac.549+52C>G (n.549+52C>G)
c.360+52C>G (n.360+52C>G)
c.426+52C>G (n.426+52C>G)
 dbSNP gnomAD v3 gnomAD v4
10g.80280121G=CA1922577783MAT1Ac.549+52C= (n.549+52C=)
c.360+52C= (n.360+52C=)
c.426+52C= (n.426+52C=)
10g.80280121G>TCA2609913826MAT1Ac.549+52C>A (n.549+52C>A)
c.360+52C>A (n.360+52C>A)
c.426+52C>A (n.426+52C>A)
 gnomAD v4
10g.80280122G>ACA210326764MAT1Ac.549+51C>T (n.549+51C>T)
c.360+51C>T (n.360+51C>T)
c.426+51C>T (n.426+51C>T)
 dbSNP
10g.80280122G=CA1922577786MAT1Ac.549+51C= (n.549+51C=)
c.360+51C= (n.360+51C=)
c.426+51C= (n.426+51C=)
10g.80280122G>TCA2574455895MAT1Ac.549+51C>A (n.549+51C>A)
c.360+51C>A (n.360+51C>A)
c.426+51C>A (n.426+51C>A)
 gnomAD v4
10g.80280123G=CA1922577789MAT1Ac.549+50C= (n.549+50C=)
c.360+50C= (n.360+50C=)
c.426+50C= (n.426+50C=)
10g.80280123G>TCA1922577791MAT1Ac.549+50C>A (n.549+50C>A)
c.360+50C>A (n.360+50C>A)
c.426+50C>A (n.426+50C>A)
 dbSNP gnomAD v4
10g.80280124G>CCA2722014047MAT1Ac.549+49C>G (n.549+49C>G)
c.360+49C>G (n.360+49C>G)
c.426+49C>G (n.426+49C>G)
 dbSNP
10g.80280124G=CA1922577793MAT1Ac.549+49C= (n.549+49C=)
c.360+49C= (n.360+49C=)
c.426+49C= (n.426+49C=)
10g.80280124G>TCA5576765MAT1Ac.549+49C>A (n.549+49C>A)
c.360+49C>A (n.360+49C>A)
c.426+49C>A (n.426+49C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280125T>CCA2609913827MAT1Ac.549+48A>G (n.549+48A>G)
c.360+48A>G (n.360+48A>G)
c.426+48A>G (n.426+48A>G)
 gnomAD v4
10g.80280126A=CA1922577796MAT1Ac.549+47T= (n.549+47T=)
c.360+47T= (n.360+47T=)
c.426+47T= (n.426+47T=)
10g.80280126A>GCA1922577798MAT1Ac.549+47T>C (n.549+47T>C)
c.360+47T>C (n.360+47T>C)
c.426+47T>C (n.426+47T>C)
 dbSNP
10g.80280127T>CCA594462412MAT1Ac.549+46A>G (n.549+46A>G)
c.360+46A>G (n.360+46A>G)
c.426+46A>G (n.426+46A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80280127T=CA1922577799MAT1Ac.549+46A= (n.549+46A=)
c.360+46A= (n.360+46A=)
c.426+46A= (n.426+46A=)
10g.80280128T>CCA2609913828MAT1Ac.549+45A>G (n.549+45A>G)
c.360+45A>G (n.360+45A>G)
c.426+45A>G (n.426+45A>G)
 gnomAD v4
10g.80280128_80280129delinsTACA1922577801MAT1Ac.549+44_549+45delinsTA (n.549+44_549+45delinsTA)
c.360+44_360+45delinsTA (n.360+44_360+45delinsTA)
c.426+44_426+45delinsTA (n.426+44_426+45delinsTA)
10g.80280129A=CA1922577803MAT1Ac.549+44T= (n.549+44T=)
c.360+44T= (n.360+44T=)
c.426+44T= (n.426+44T=)
10g.80280129A>CCA668888264MAT1Ac.549+44T>G (n.549+44T>G)
c.360+44T>G (n.360+44T>G)
c.426+44T>G (n.426+44T>G)
 dbSNP gnomAD v4
10g.80280129A>GCA2609913829MAT1Ac.549+44T>C (n.549+44T>C)
c.360+44T>C (n.360+44T>C)
c.426+44T>C (n.426+44T>C)
 gnomAD v4
10g.80280131delCA594462415MAT1Ac.549+44del (n.549+44del)
c.360+44del (n.360+44del)
c.426+44del (n.426+44del)
 dbSNP gnomAD v2 gnomAD v4
10g.80280131A=CA1922577806MAT1Ac.549+42T= (n.549+42T=)
c.360+42T= (n.360+42T=)
c.426+42T= (n.426+42T=)
10g.80280131A>CCA2574455902MAT1Ac.549+42T>G (n.549+42T>G)
c.360+42T>G (n.360+42T>G)
c.426+42T>G (n.426+42T>G)
10g.80280131A>TCA210326782MAT1Ac.549+42T>A (n.549+42T>A)
c.360+42T>A (n.360+42T>A)
c.426+42T>A (n.426+42T>A)
 dbSNP gnomAD v2 gnomAD v4
10g.80280132G>CCA210326791MAT1Ac.549+41C>G (n.549+41C>G)
c.360+41C>G (n.360+41C>G)
c.426+41C>G (n.426+41C>G)
 dbSNP gnomAD v2 gnomAD v4
10g.80280132G=CA1922577809MAT1Ac.549+41C= (n.549+41C=)
c.360+41C= (n.360+41C=)
c.426+41C= (n.426+41C=)
10g.80280132G>TCA2574455907MAT1Ac.549+41C>A (n.549+41C>A)
c.360+41C>A (n.360+41C>A)
c.426+41C>A (n.426+41C>A)
 gnomAD v4
10g.80280136_80280137delCA2609913830MAT1Ac.549+37_549+38del (n.549+37_549+38del)
c.360+37_360+38del (n.360+37_360+38del)
c.426+37_426+38del (n.426+37_426+38del)
 gnomAD v4
10g.80280138_80280149delCA2609913831MAT1Ac.549+27_549+38del (n.549+27_549+38del)
c.360+27_360+38del (n.360+27_360+38del)
c.426+27_426+38del (n.426+27_426+38del)
 gnomAD v4
10g.80280137T>CCA5576766MAT1Ac.549+36A>G (n.549+36A>G)
c.360+36A>G (n.360+36A>G)
c.426+36A>G (n.426+36A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280137T=CA1922577811MAT1Ac.549+36A= (n.549+36A=)
c.360+36A= (n.360+36A=)
c.426+36A= (n.426+36A=)
10g.80280138G>CCA2609913832MAT1Ac.549+35C>G (n.549+35C>G)
c.360+35C>G (n.360+35C>G)
c.426+35C>G (n.426+35C>G)
 gnomAD v4
10g.80280140C>ACA2513615396MAT1Ac.549+33G>T (n.549+33G>T)
c.360+33G>T (n.360+33G>T)
c.426+33G>T (n.426+33G>T)
10g.80280140C=CA1922577812MAT1Ac.549+33G= (n.549+33G=)
c.360+33G= (n.360+33G=)
c.426+33G= (n.426+33G=)
10g.80280140C>TCA1922577813MAT1Ac.549+33G>A (n.549+33G>A)
c.360+33G>A (n.360+33G>A)
c.426+33G>A (n.426+33G>A)
 dbSNP
10g.80280145G>ACA594462424MAT1Ac.549+28C>T (n.549+28C>T)
c.360+28C>T (n.360+28C>T)
c.426+28C>T (n.426+28C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80280145G=CA1922577814MAT1Ac.549+28C= (n.549+28C=)
c.360+28C= (n.360+28C=)
c.426+28C= (n.426+28C=)
10g.80280145G>TCA2609913833MAT1Ac.549+28C>A (n.549+28C>A)
c.360+28C>A (n.360+28C>A)
c.426+28C>A (n.426+28C>A)
 gnomAD v4
10g.80280146C=CA1922577816MAT1Ac.549+27G= (n.549+27G=)
c.360+27G= (n.360+27G=)
c.426+27G= (n.426+27G=)
10g.80280146C>TCA1922577817MAT1Ac.549+27G>A (n.549+27G>A)
c.360+27G>A (n.360+27G>A)
c.426+27G>A (n.426+27G>A)
 dbSNP gnomAD v4
10g.80280147T>GCA2609913834MAT1Ac.549+26A>C (n.549+26A>C)
c.360+26A>C (n.360+26A>C)
c.426+26A>C (n.426+26A>C)
 gnomAD v4
10g.80280149T>CCA2609913835MAT1Ac.549+24A>G (n.549+24A>G)
c.360+24A>G (n.360+24A>G)
c.426+24A>G (n.426+24A>G)
 gnomAD v4
10g.80280150C>TCA2574455912MAT1Ac.549+23G>A (n.549+23G>A)
c.360+23G>A (n.360+23G>A)
c.426+23G>A (n.426+23G>A)
 gnomAD v4
10g.80280152T>CCA5576767MAT1Ac.549+21A>G (n.549+21A>G)
c.360+21A>G (n.360+21A>G)
c.426+21A>G (n.426+21A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280152T>GCA2609913836MAT1Ac.549+21A>C (n.549+21A>C)
c.360+21A>C (n.360+21A>C)
c.426+21A>C (n.426+21A>C)
 gnomAD v4
10g.80280152T=CA1922577820MAT1Ac.549+21A= (n.549+21A=)
c.360+21A= (n.360+21A=)
c.426+21A= (n.426+21A=)
10g.80280153G>ACA210326804MAT1Ac.549+20C>T (n.549+20C>T)
c.360+20C>T (n.360+20C>T)
c.426+20C>T (n.426+20C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.80280153G>CCA930360227MAT1Ac.549+20C>G (n.549+20C>G)
c.360+20C>G (n.360+20C>G)
c.426+20C>G (n.426+20C>G)
 dbSNP gnomAD v3 gnomAD v4
10g.80280153G=CA1922577822MAT1Ac.549+20C= (n.549+20C=)
c.360+20C= (n.360+20C=)
c.426+20C= (n.426+20C=)
10g.80280153G>TCA594462428MAT1Ac.549+20C>A (n.549+20C>A)
c.360+20C>A (n.360+20C>A)
c.426+20C>A (n.426+20C>A)
 dbSNP gnomAD v2 gnomAD v4
10g.80280155G>ACA668888291MAT1Ac.549+18C>T (n.549+18C>T)
c.360+18C>T (n.360+18C>T)
c.426+18C>T (n.426+18C>T)
 dbSNP
10g.80280155G=CA1922577823MAT1Ac.549+18C= (n.549+18C=)
c.360+18C= (n.360+18C=)
c.426+18C= (n.426+18C=)
10g.80280156G>TCA2574455915MAT1Ac.549+17C>A (n.549+17C>A)
c.360+17C>A (n.360+17C>A)
c.426+17C>A (n.426+17C>A)
10g.80280157T>GCA1922577825MAT1Ac.549+16A>C (n.549+16A>C)
c.360+16A>C (n.360+16A>C)
c.426+16A>C (n.426+16A>C)
 dbSNP
10g.80280157T=CA1922577824MAT1Ac.549+16A= (n.549+16A=)
c.360+16A= (n.360+16A=)
c.426+16A= (n.426+16A=)
10g.80280159A=CA1922577826MAT1Ac.549+14T= (n.549+14T=)
c.360+14T= (n.360+14T=)
c.426+14T= (n.426+14T=)
10g.80280159A>GCA594462429MAT1Ac.549+14T>C (n.549+14T>C)
c.360+14T>C (n.360+14T>C)
c.426+14T>C (n.426+14T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80280160T>CCA2609913837MAT1Ac.549+13A>G (n.549+13A>G)
c.360+13A>G (n.360+13A>G)
c.426+13A>G (n.426+13A>G)
 gnomAD v4
10g.80280165C=CA1922577827MAT1Ac.549+8G= (n.549+8G=)
c.360+8G= (n.360+8G=)
c.426+8G= (n.426+8G=)
10g.80280165C>GCA668888292MAT1Ac.549+8G>C (n.549+8G>C)
c.360+8G>C (n.360+8G>C)
c.426+8G>C (n.426+8G>C)
 dbSNP gnomAD v3 gnomAD v4
10g.80280167G>ACA210326810MAT1Ac.549+6C>T (n.549+6C>T)
c.360+6C>T (n.360+6C>T)
c.426+6C>T (n.426+6C>T)
 dbSNP gnomAD v3 gnomAD v4
10g.80280167G=CA1922577828MAT1Ac.549+6C= (n.549+6C=)
c.360+6C= (n.360+6C=)
c.426+6C= (n.426+6C=)
10g.80280168C=CA1922577829MAT1Ac.549+5G= (n.549+5G=)
c.360+5G= (n.360+5G=)
c.426+5G= (n.426+5G=)
10g.80280168C>TCA594462432MAT1Ac.549+5G>A (n.549+5G>A)
c.360+5G>A (n.360+5G>A)
c.426+5G>A (n.426+5G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.80280170C=CA1922577831MAT1Ac.549+3G= (n.549+3G=)
c.360+3G= (n.360+3G=)
c.426+3G= (n.426+3G=)
10g.80280170C>GCA668888301MAT1Ac.549+3G>C (n.549+3G>C)
c.360+3G>C (n.360+3G>C)
c.426+3G>C (n.426+3G>C)
 dbSNP gnomAD v3 gnomAD v4
10g.80280170C>TCA5576768MAT1Ac.549+3G>A (n.549+3G>A)
c.360+3G>A (n.360+3G>A)
c.426+3G>A (n.426+3G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.80280171A>CCA377362583MAT1Ac.549+2T>G (n.549+2T>G)
c.360+2T>G (n.360+2T>G)
c.426+2T>G (n.426+2T>G)
10g.80280171A>GCA377362584MAT1Ac.549+2T>C (n.549+2T>C)
c.360+2T>C (n.360+2T>C)
c.426+2T>C (n.426+2T>C)
10g.80280171A>TCA377362585MAT1Ac.549+2T>A (n.549+2T>A)
c.360+2T>A (n.360+2T>A)
c.426+2T>A (n.426+2T>A)
10g.80280172C>ACA377362586MAT1Ac.549+1G>T (n.549+1G>T)
c.360+1G>T (n.360+1G>T)
c.426+1G>T (n.426+1G>T)
10g.80280172C>GCA377362587MAT1Ac.549+1G>C (n.549+1G>C)
c.360+1G>C (n.360+1G>C)
c.426+1G>C (n.426+1G>C)
10g.80280172C>TCA377362588MAT1Ac.549+1G>A (n.549+1G>A)
c.360+1G>A (n.360+1G>A)
c.426+1G>A (n.426+1G>A)
 dbSNP
10g.80280173C>ACA377362589MAT1Ac.549G>T (p.Gln183His)
c.360G>T (p.Gln120His)
c.426G>T (p.Gln142His)
10g.80280173C>GCA377362590MAT1Ac.549G>C (p.Gln183His)
c.360G>C (p.Gln120His)
c.426G>C (p.Gln142His)
10g.80280173C>TCA470467954MAT1Ac.549G>A (p.Gln183=)
c.360G>A (p.Gln120=)
c.426G>A (p.Gln142=)
10g.80280174T>ACA377362591MAT1Ac.548A>T (p.Gln183Leu)
c.359A>T (p.Gln120Leu)
c.425A>T (p.Gln142Leu)
10g.80280174T>CCA377362592MAT1Ac.548A>G (p.Gln183Arg)
c.359A>G (p.Gln120Arg)
c.425A>G (p.Gln142Arg)
 gnomAD v4
10g.80280174T>GCA5576769MAT1Ac.548A>C (p.Gln183Pro)
c.359A>C (p.Gln120Pro)
c.425A>C (p.Gln142Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.80280174T=CA1922577835MAT1Ac.548A= (p.Gln183=)
c.359A= (p.Gln120=)
c.425A= (p.Gln142=)
10g.80280175G>ACA377362594MAT1Ac.547C>T (p.Gln183Ter)
c.358C>T (p.Gln120Ter)
c.424C>T (p.Gln142Ter)
10g.80280175G>CCA377362595MAT1Ac.547C>G (p.Gln183Glu)
c.358C>G (p.Gln120Glu)
c.424C>G (p.Gln142Glu)
 gnomAD v4
10g.80280175G>TCA377362593MAT1Ac.547C>A (p.Gln183Lys)
c.358C>A (p.Gln120Lys)
c.424C>A (p.Gln142Lys)
 ClinVar
10g.80280176A=CA1922577836MAT1Ac.546T= (p.Thr182=)
c.357T= (p.Thr119=)
c.423T= (p.Thr141=)
10g.80280176A>CCA470467967MAT1Ac.546T>G (p.Thr182=)
c.357T>G (p.Thr119=)
c.423T>G (p.Thr141=)
10g.80280176A>GCA470467970MAT1Ac.546T>C (p.Thr182=)
c.357T>C (p.Thr119=)
c.423T>C (p.Thr141=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80280176A>TCA470467972MAT1Ac.546T>A (p.Thr182=)
c.357T>A (p.Thr119=)
c.423T>A (p.Thr141=)
10g.80280177G>ACA377362596MAT1Ac.545C>T (p.Thr182Ile)
c.356C>T (p.Thr119Ile)
c.422C>T (p.Thr141Ile)
 ClinVar
10g.80280177G>CCA377362597MAT1Ac.545C>G (p.Thr182Ser)
c.356C>G (p.Thr119Ser)
c.422C>G (p.Thr141Ser)
10g.80280177G>TCA377362598MAT1Ac.545C>A (p.Thr182Asn)
c.356C>A (p.Thr119Asn)
c.422C>A (p.Thr141Asn)
10g.80280178T>ACA377362599MAT1Ac.544A>T (p.Thr182Ser)
c.355A>T (p.Thr119Ser)
c.421A>T (p.Thr141Ser)
10g.80280178T>CCA377362600MAT1Ac.544A>G (p.Thr182Ala)
c.355A>G (p.Thr119Ala)
c.421A>G (p.Thr141Ala)
10g.80280178T>GCA377362601MAT1Ac.544A>C (p.Thr182Pro)
c.355A>C (p.Thr119Pro)
c.421A>C (p.Thr141Pro)
10g.80280179C>ACA377362603MAT1Ac.543G>T (p.Lys181Asn)
c.354G>T (p.Lys118Asn)
c.420G>T (p.Lys140Asn)
10g.80280179C>GCA377362602MAT1Ac.543G>C (p.Lys181Asn)
c.354G>C (p.Lys118Asn)
c.420G>C (p.Lys140Asn)
10g.80280179C>TCA470467986MAT1Ac.543G>A (p.Lys181=)
c.354G>A (p.Lys118=)
c.420G>A (p.Lys140=)
10g.80280180T>ACA377362604MAT1Ac.542A>T (p.Lys181Met)
c.353A>T (p.Lys118Met)
c.419A>T (p.Lys140Met)
10g.80280180T>CCA377362605MAT1Ac.542A>G (p.Lys181Arg)
c.353A>G (p.Lys118Arg)
c.419A>G (p.Lys140Arg)
10g.80280180T>GCA377362606MAT1Ac.542A>C (p.Lys181Thr)
c.353A>C (p.Lys118Thr)
c.419A>C (p.Lys140Thr)
10g.80280181T>ACA377362607MAT1Ac.541A>T (p.Lys181Ter)
c.352A>T (p.Lys118Ter)
c.418A>T (p.Lys140Ter)
10g.80280181T>CCA377362608MAT1Ac.541A>G (p.Lys181Glu)
c.352A>G (p.Lys118Glu)
c.418A>G (p.Lys140Glu)
10g.80280181T>GCA377362609MAT1Ac.541A>C (p.Lys181Gln)
c.352A>C (p.Lys118Gln)
c.418A>C (p.Lys140Gln)
 gnomAD v4
10g.80280182A=CA1922577838MAT1Ac.540T= (p.Ser180=)
c.351T= (p.Ser117=)
c.417T= (p.Ser139=)
10g.80280182A>CCA470468003MAT1Ac.540T>G (p.Ser180=)
c.351T>G (p.Ser117=)
c.417T>G (p.Ser139=)
10g.80280182A>GCA470468005MAT1Ac.540T>C (p.Ser180=)
c.351T>C (p.Ser117=)
c.417T>C (p.Ser139=)
 dbSNP gnomAD v3 gnomAD v4
10g.80280182A>TCA470468008MAT1Ac.540T>A (p.Ser180=)
c.351T>A (p.Ser117=)
c.417T>A (p.Ser139=)
10g.80280182dupCA2574455921MAT1Ac.540dup (p.Lys181Ter)
c.351dup (p.Lys118Ter)
c.417dup (p.Lys140Ter)
10g.80280183G>ACA377362610MAT1Ac.539C>T (p.Ser180Phe)
c.350C>T (p.Ser117Phe)
c.416C>T (p.Ser139Phe)
10g.80280183G>CCA377362612MAT1Ac.539C>G (p.Ser180Cys)
c.350C>G (p.Ser117Cys)
c.416C>G (p.Ser139Cys)
 dbSNP gnomAD v4
10g.80280183G=CA1922577840MAT1Ac.539C= (p.Ser180=)
c.350C= (p.Ser117=)
c.416C= (p.Ser139=)
10g.80280183G>TCA377362611MAT1Ac.539C>A (p.Ser180Tyr)
c.350C>A (p.Ser117Tyr)
c.416C>A (p.Ser139Tyr)
10g.80280183_80280184insCACA210326818MAT1Ac.538_539insTG (p.Ser180LeufsTer6)
c.349_350insTG (p.Ser117LeufsTer6)
c.415_416insTG (p.Ser139LeufsTer6)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.80280184A>CCA377362613MAT1Ac.538T>G (p.Ser180Ala)
c.349T>G (p.Ser117Ala)
c.415T>G (p.Ser139Ala)
10g.80280184A>GCA377362614MAT1Ac.538T>C (p.Ser180Pro)
c.349T>C (p.Ser117Pro)
c.415T>C (p.Ser139Pro)
10g.80280184A>TCA377362615MAT1Ac.538T>A (p.Ser180Thr)
c.349T>A (p.Ser117Thr)
c.415T>A (p.Ser139Thr)
10g.80280185G>ACA470468022MAT1Ac.537C>T (p.Asp179=)
c.348C>T (p.Asp116=)
c.414C>T (p.Asp138=)
 dbSNP
10g.80280185G>CCA377362616MAT1Ac.537C>G (p.Asp179Glu)
c.348C>G (p.Asp116Glu)
c.414C>G (p.Asp138Glu)
 gnomAD v4
10g.80280185G=CA1922577844MAT1Ac.537C= (p.Asp179=)
c.348C= (p.Asp116=)
c.414C= (p.Asp138=)
10g.80280185G>TCA377362617MAT1Ac.537C>A (p.Asp179Glu)
c.348C>A (p.Asp116Glu)
c.414C>A (p.Asp138Glu)
10g.80280186T>ACA377362618MAT1Ac.536A>T (p.Asp179Val)
c.347A>T (p.Asp116Val)
c.413A>T (p.Asp138Val)
 ClinVar
10g.80280186T>CCA377362619MAT1Ac.536A>G (p.Asp179Gly)
c.347A>G (p.Asp116Gly)
c.413A>G (p.Asp138Gly)
10g.80280186T>GCA377362620MAT1Ac.536A>C (p.Asp179Ala)
c.347A>C (p.Asp116Ala)
c.413A>C (p.Asp138Ala)
10g.80280187C>ACA377362621MAT1Ac.535G>T (p.Asp179Tyr)
c.346G>T (p.Asp116Tyr)
c.412G>T (p.Asp138Tyr)
10g.80280187C>GCA377362622MAT1Ac.535G>C (p.Asp179His)
c.346G>C (p.Asp116His)
c.412G>C (p.Asp138His)
10g.80280187C>TCA377362623MAT1Ac.535G>A (p.Asp179Asn)
c.346G>A (p.Asp116Asn)
c.412G>A (p.Asp138Asn)
10g.80280188A>CCA470468039MAT1Ac.534T>G (p.Pro178=)
c.345T>G (p.Pro115=)
c.411T>G (p.Pro137=)
10g.80280188A>GCA470468041MAT1Ac.534T>C (p.Pro178=)
c.345T>C (p.Pro115=)
c.411T>C (p.Pro137=)
10g.80280188A>TCA470468044MAT1Ac.534T>A (p.Pro178=)
c.345T>A (p.Pro115=)
c.411T>A (p.Pro137=)
10g.80280189G>ACA377362626MAT1Ac.533C>T (p.Pro178Leu)
c.344C>T (p.Pro115Leu)
c.410C>T (p.Pro137Leu)
 COSMIC
10g.80280189G>CCA377362625MAT1Ac.533C>G (p.Pro178Arg)
c.344C>G (p.Pro115Arg)
c.410C>G (p.Pro137Arg)
10g.80280189G>TCA377362624MAT1Ac.533C>A (p.Pro178His)
c.344C>A (p.Pro115His)
c.410C>A (p.Pro137His)
10g.80280190G>ACA377362627MAT1Ac.532C>T (p.Pro178Ser)
c.343C>T (p.Pro115Ser)
c.409C>T (p.Pro137Ser)
10g.80280190G>CCA377362629MAT1Ac.532C>G (p.Pro178Ala)
c.343C>G (p.Pro115Ala)
c.409C>G (p.Pro137Ala)
10g.80280190G>TCA377362628MAT1Ac.532C>A (p.Pro178Thr)
c.343C>A (p.Pro115Thr)
c.409C>A (p.Pro137Thr)
10g.80280191C>ACA5576770MAT1Ac.531G>T (p.Arg177=)
c.342G>T (p.Arg114=)
c.408G>T (p.Arg136=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.80280191C=CA1922577845MAT1Ac.531G= (p.Arg177=)
c.342G= (p.Arg114=)
c.408G= (p.Arg136=)
10g.80280191C>GCA470468062MAT1Ac.531G>C (p.Arg177=)
c.342G>C (p.Arg114=)
c.408G>C (p.Arg136=)
10g.80280191C>TCA470468065MAT1Ac.531G>A (p.Arg177=)
c.342G>A (p.Arg114=)
c.408G>A (p.Arg136=)
 gnomAD v4
10g.80280192C>ACA377362630MAT1Ac.530G>T (p.Arg177Leu)
c.341G>T (p.Arg114Leu)
c.407G>T (p.Arg136Leu)
10g.80280192C=CA1922577847MAT1Ac.530G= (p.Arg177=)
c.341G= (p.Arg114=)
c.407G= (p.Arg136=)
10g.80280192C>GCA5576772MAT1Ac.530G>C (p.Arg177Pro)
c.341G>C (p.Arg114Pro)
c.407G>C (p.Arg136Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.80280192C>TCA5576771MAT1Ac.530G>A (p.Arg177Gln)
c.341G>A (p.Arg114Gln)
c.407G>A (p.Arg136Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.80280193G>ACA5576773MAT1Ac.529C>T (p.Arg177Trp)
c.340C>T (p.Arg114Trp)
c.406C>T (p.Arg136Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280193G>CCA377362631MAT1Ac.529C>G (p.Arg177Gly)
c.340C>G (p.Arg114Gly)
c.406C>G (p.Arg136Gly)
10g.80280193G=CA1922577849MAT1Ac.529C= (p.Arg177=)
c.340C= (p.Arg114=)
c.406C= (p.Arg136=)
10g.80280193G>TCA210326839MAT1Ac.529C>A (p.Arg177=)
c.340C>A (p.Arg114=)
c.406C>A (p.Arg136=)
 dbSNP
10g.80280194C>ACA470468080MAT1Ac.528G>T (p.Leu176=)
c.339G>T (p.Leu113=)
c.405G>T (p.Leu135=)
10g.80280194C>GCA470468082MAT1Ac.528G>C (p.Leu176=)
c.339G>C (p.Leu113=)
c.405G>C (p.Leu135=)
10g.80280194C>TCA470468087MAT1Ac.528G>A (p.Leu176=)
c.339G>A (p.Leu113=)
c.405G>A (p.Leu135=)
 gnomAD v4
10g.80280195A=CA1922577852MAT1Ac.527T= (p.Leu176=)
c.338T= (p.Leu113=)
c.404T= (p.Leu135=)
10g.80280195A>CCA377362632MAT1Ac.527T>G (p.Leu176Arg)
c.338T>G (p.Leu113Arg)
c.404T>G (p.Leu135Arg)
10g.80280195A>GCA377362633MAT1Ac.527T>C (p.Leu176Pro)
c.338T>C (p.Leu113Pro)
c.404T>C (p.Leu135Pro)
10g.80280195A>TCA5576774MAT1Ac.527T>A (p.Leu176Gln)
c.338T>A (p.Leu113Gln)
c.404T>A (p.Leu135Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280196G>ACA470468095MAT1Ac.526C>T (p.Leu176=)
c.337C>T (p.Leu113=)
c.403C>T (p.Leu135=)
10g.80280196G>CCA377362634MAT1Ac.526C>G (p.Leu176Val)
c.337C>G (p.Leu113Val)
c.403C>G (p.Leu135Val)
10g.80280196G>TCA377362635MAT1Ac.526C>A (p.Leu176Met)
c.337C>A (p.Leu113Met)
c.403C>A (p.Leu135Met)
10g.80280197C>ACA377362638MAT1Ac.525G>T (p.Trp175Cys)
c.336G>T (p.Trp112Cys)
c.402G>T (p.Trp134Cys)
10g.80280197C=CA1922577853MAT1Ac.525G= (p.Trp175=)
c.336G= (p.Trp112=)
c.402G= (p.Trp134=)
10g.80280197C>GCA377362637MAT1Ac.525G>C (p.Trp175Cys)
c.336G>C (p.Trp112Cys)
c.402G>C (p.Trp134Cys)
10g.80280197C>TCA377362636MAT1Ac.525G>A (p.Trp175Ter)
c.336G>A (p.Trp112Ter)
c.402G>A (p.Trp134Ter)
 dbSNP gnomAD v2 gnomAD v4
10g.80280198C>ACA377362639MAT1Ac.524G>T (p.Trp175Leu)
c.335G>T (p.Trp112Leu)
c.401G>T (p.Trp134Leu)
 dbSNP gnomAD v2 gnomAD v4
10g.80280198C=CA1922577855MAT1Ac.524G= (p.Trp175=)
c.335G= (p.Trp112=)
c.401G= (p.Trp134=)
10g.80280198C>GCA377362640MAT1Ac.524G>C (p.Trp175Ser)
c.335G>C (p.Trp112Ser)
c.401G>C (p.Trp134Ser)
10g.80280198C>TCA377362641MAT1Ac.524G>A (p.Trp175Ter)
c.335G>A (p.Trp112Ter)
c.401G>A (p.Trp134Ter)
 ClinVar dbSNP
10g.80280199A>CCA377362642MAT1Ac.523T>G (p.Trp175Gly)
c.334T>G (p.Trp112Gly)
c.400T>G (p.Trp134Gly)
10g.80280199A>GCA377362643MAT1Ac.523T>C (p.Trp175Arg)
c.334T>C (p.Trp112Arg)
c.400T>C (p.Trp134Arg)
 COSMIC
10g.80280199A>TCA377362644MAT1Ac.523T>A (p.Trp175Arg)
c.334T>A (p.Trp112Arg)
c.400T>A (p.Trp134Arg)
10g.80280200G>ACA470468123MAT1Ac.522C>T (p.Pro174=)
c.333C>T (p.Pro111=)
c.399C>T (p.Pro133=)
10g.80280200G>CCA470468117MAT1Ac.522C>G (p.Pro174=)
c.333C>G (p.Pro111=)
c.399C>G (p.Pro133=)
10g.80280200G>TCA470468119MAT1Ac.522C>A (p.Pro174=)
c.333C>A (p.Pro111=)
c.399C>A (p.Pro133=)
10g.80280201G>ACA210326850MAT1Ac.521C>T (p.Pro174Leu)
c.332C>T (p.Pro111Leu)
c.398C>T (p.Pro133Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80280201G>CCA377362645MAT1Ac.521C>G (p.Pro174Arg)
c.332C>G (p.Pro111Arg)
c.398C>G (p.Pro133Arg)
10g.80280201G=CA1922577857MAT1Ac.521C= (p.Pro174=)
c.332C= (p.Pro111=)
c.398C= (p.Pro133=)
10g.80280201G>TCA377362646MAT1Ac.521C>A (p.Pro174His)
c.332C>A (p.Pro111His)
c.398C>A (p.Pro133His)
 COSMIC
10g.80280202G>ACA377362647MAT1Ac.520C>T (p.Pro174Ser)
c.331C>T (p.Pro111Ser)
c.397C>T (p.Pro133Ser)
 gnomAD v4
10g.80280202G>CCA377362648MAT1Ac.520C>G (p.Pro174Ala)
c.331C>G (p.Pro111Ala)
c.397C>G (p.Pro133Ala)
10g.80280202G>TCA377362649MAT1Ac.520C>A (p.Pro174Thr)
c.331C>A (p.Pro111Thr)
c.397C>A (p.Pro133Thr)
10g.80280203G>ACA470468137MAT1Ac.519C>T (p.Leu173=)
c.330C>T (p.Leu110=)
c.396C>T (p.Leu132=)
 dbSNP gnomAD v3 gnomAD v4
10g.80280203G>CCA470468141MAT1Ac.519C>G (p.Leu173=)
c.330C>G (p.Leu110=)
c.396C>G (p.Leu132=)
 dbSNP
10g.80280203G=CA1922577859MAT1Ac.519C= (p.Leu173=)
c.330C= (p.Leu110=)
c.396C= (p.Leu132=)
10g.80280203G>TCA470468144MAT1Ac.519C>A (p.Leu173=)
c.330C>A (p.Leu110=)
c.396C>A (p.Leu132=)
10g.80280204A=CA1922577860MAT1Ac.518T= (p.Leu173=)
c.329T= (p.Leu110=)
c.395T= (p.Leu132=)
10g.80280204A>CCA377362651MAT1Ac.518T>G (p.Leu173Arg)
c.329T>G (p.Leu110Arg)
c.395T>G (p.Leu132Arg)
10g.80280204A>GCA377362650MAT1Ac.518T>C (p.Leu173Pro)
c.329T>C (p.Leu110Pro)
c.395T>C (p.Leu132Pro)
10g.80280204A>TCA210326855MAT1Ac.518T>A (p.Leu173His)
c.329T>A (p.Leu110His)
c.395T>A (p.Leu132His)
 dbSNP

Number of alleles fetched