Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.80280235G>ACA5576782MAT1Ac.487C>T (p.Arg163Trp)
c.298C>T (p.Arg100Trp)
c.364C>T (p.Arg122Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280235G>CCA377362712MAT1Ac.487C>G (p.Arg163Gly)
c.298C>G (p.Arg100Gly)
c.364C>G (p.Arg122Gly)
10g.80280235G=CA1922577896MAT1Ac.487C= (p.Arg163=)
c.298C= (p.Arg100=)
c.364C= (p.Arg122=)
10g.80280235G>TCA470468335MAT1Ac.487C>A (p.Arg163=)
c.298C>A (p.Arg100=)
c.364C>A (p.Arg122=)
10g.80280236G>ACA470468338MAT1Ac.486C>T (p.Ala162=)
c.297C>T (p.Ala99=)
c.363C>T (p.Ala121=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.80280236G>CCA470468341MAT1Ac.486C>G (p.Ala162=)
c.297C>G (p.Ala99=)
c.363C>G (p.Ala121=)
10g.80280236G=CA1922577897MAT1Ac.486C= (p.Ala162=)
c.297C= (p.Ala99=)
c.363C= (p.Ala121=)
10g.80280236G>TCA470468343MAT1Ac.486C>A (p.Ala162=)
c.297C>A (p.Ala99=)
c.363C>A (p.Ala121=)
10g.80280237G>ACA5576783MAT1Ac.485C>T (p.Ala162Val)
c.296C>T (p.Ala99Val)
c.362C>T (p.Ala121Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.80280237G>CCA377362713MAT1Ac.485C>G (p.Ala162Gly)
c.296C>G (p.Ala99Gly)
c.362C>G (p.Ala121Gly)
 ClinVar
10g.80280237G=CA1922577900MAT1Ac.485C= (p.Ala162=)
c.296C= (p.Ala99=)
c.362C= (p.Ala121=)
10g.80280237G>TCA377362714MAT1Ac.485C>A (p.Ala162Asp)
c.296C>A (p.Ala99Asp)
c.362C>A (p.Ala121Asp)
10g.80280238C>ACA377362717MAT1Ac.484G>T (p.Ala162Ser)
c.295G>T (p.Ala99Ser)
c.361G>T (p.Ala121Ser)
10g.80280238C=CA1922577902MAT1Ac.484G= (p.Ala162=)
c.295G= (p.Ala99=)
c.361G= (p.Ala121=)
10g.80280238C>GCA377362716MAT1Ac.484G>C (p.Ala162Pro)
c.295G>C (p.Ala99Pro)
c.361G>C (p.Ala121Pro)
10g.80280238C>TCA377362715MAT1Ac.484G>A (p.Ala162Thr)
c.295G>A (p.Ala99Thr)
c.361G>A (p.Ala121Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80280239G>ACA5576784MAT1Ac.483C>T (p.Asn161=)
c.294C>T (p.Asn98=)
c.360C>T (p.Asn120=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280239G>CCA377362718MAT1Ac.483C>G (p.Asn161Lys)
c.294C>G (p.Asn98Lys)
c.360C>G (p.Asn120Lys)
10g.80280239G=CA1922577905MAT1Ac.483C= (p.Asn161=)
c.294C= (p.Asn98=)
c.360C= (p.Asn120=)
10g.80280239G>TCA377362719MAT1Ac.483C>A (p.Asn161Lys)
c.294C>A (p.Asn98Lys)
c.360C>A (p.Asn120Lys)
10g.80280240T>ACA377362720MAT1Ac.482A>T (p.Asn161Ile)
c.293A>T (p.Asn98Ile)
c.359A>T (p.Asn120Ile)
10g.80280240T>CCA377362721MAT1Ac.482A>G (p.Asn161Ser)
c.293A>G (p.Asn98Ser)
c.359A>G (p.Asn120Ser)
10g.80280240T>GCA377362722MAT1Ac.482A>C (p.Asn161Thr)
c.293A>C (p.Asn98Thr)
c.359A>C (p.Asn120Thr)
10g.80280241T>ACA377362723MAT1Ac.481A>T (p.Asn161Tyr)
c.292A>T (p.Asn98Tyr)
c.358A>T (p.Asn120Tyr)
10g.80280241T>CCA377362725MAT1Ac.481A>G (p.Asn161Asp)
c.292A>G (p.Asn98Asp)
c.358A>G (p.Asn120Asp)
10g.80280241T>GCA377362724MAT1Ac.481A>C (p.Asn161His)
c.292A>C (p.Asn98His)
c.358A>C (p.Asn120His)
 gnomAD v4
10g.80280242G>ACA470468367MAT1Ac.480C>T (p.Leu160=)
c.291C>T (p.Leu97=)
c.357C>T (p.Leu119=)
 gnomAD v4
10g.80280242G>CCA470468370MAT1Ac.480C>G (p.Leu160=)
c.291C>G (p.Leu97=)
c.357C>G (p.Leu119=)
 dbSNP gnomAD v3 gnomAD v4
10g.80280242G>TCA470468373MAT1Ac.480C>A (p.Leu160=)
c.291C>A (p.Leu97=)
c.357C>A (p.Leu119=)
10g.80280243A>CCA377362726MAT1Ac.479T>G (p.Leu160Arg)
c.290T>G (p.Leu97Arg)
c.356T>G (p.Leu119Arg)
10g.80280243A>GCA377362727MAT1Ac.479T>C (p.Leu160Pro)
c.290T>C (p.Leu97Pro)
c.356T>C (p.Leu119Pro)
10g.80280243A>TCA377362728MAT1Ac.479T>A (p.Leu160His)
c.290T>A (p.Leu97His)
c.356T>A (p.Leu119His)
10g.80280244G>ACA377362729MAT1Ac.478C>T (p.Leu160Phe)
c.289C>T (p.Leu97Phe)
c.355C>T (p.Leu119Phe)
 gnomAD v4 COSMIC
10g.80280244G>CCA377362730MAT1Ac.478C>G (p.Leu160Val)
c.289C>G (p.Leu97Val)
c.355C>G (p.Leu119Val)
10g.80280244G>TCA377362731MAT1Ac.478C>A (p.Leu160Ile)
c.289C>A (p.Leu97Ile)
c.355C>A (p.Leu119Ile)
10g.80280245C>ACA377362732MAT1Ac.477G>T (p.Lys159Asn)
c.288G>T (p.Lys96Asn)
c.354G>T (p.Lys118Asn)
10g.80280245C>GCA377362733MAT1Ac.477G>C (p.Lys159Asn)
c.288G>C (p.Lys96Asn)
c.354G>C (p.Lys118Asn)
10g.80280245C>TCA470468390MAT1Ac.477G>A (p.Lys159=)
c.288G>A (p.Lys96=)
c.354G>A (p.Lys118=)
10g.80280246T>ACA377362734MAT1Ac.476A>T (p.Lys159Met)
c.287A>T (p.Lys96Met)
c.353A>T (p.Lys118Met)
10g.80280246T>CCA377362735MAT1Ac.476A>G (p.Lys159Arg)
c.287A>G (p.Lys96Arg)
c.353A>G (p.Lys118Arg)
10g.80280246T>GCA377362736MAT1Ac.476A>C (p.Lys159Thr)
c.287A>C (p.Lys96Thr)
c.353A>C (p.Lys118Thr)
10g.80280247T>ACA377362737MAT1Ac.475A>T (p.Lys159Ter)
c.286A>T (p.Lys96Ter)
c.352A>T (p.Lys118Ter)
10g.80280247T>CCA377362739MAT1Ac.475A>G (p.Lys159Glu)
c.286A>G (p.Lys96Glu)
c.352A>G (p.Lys118Glu)
10g.80280247T>GCA377362738MAT1Ac.475A>C (p.Lys159Gln)
c.286A>C (p.Lys96Gln)
c.352A>C (p.Lys118Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.80280247T=CA1922577907MAT1Ac.475A= (p.Lys159=)
c.286A= (p.Lys96=)
c.352A= (p.Lys118=)
10g.80280248G>ACA470468403MAT1Ac.474C>T (p.His158=)
c.285C>T (p.His95=)
c.351C>T (p.His117=)
 dbSNP gnomAD v4
10g.80280248G>CCA377362740MAT1Ac.474C>G (p.His158Gln)
c.285C>G (p.His95Gln)
c.351C>G (p.His117Gln)
 dbSNP gnomAD v3 gnomAD v4
10g.80280248G=CA1922577910MAT1Ac.474C= (p.His158=)
c.285C= (p.His95=)
c.351C= (p.His117=)
10g.80280248G>TCA377362741MAT1Ac.474C>A (p.His158Gln)
c.285C>A (p.His95Gln)
c.351C>A (p.His117Gln)
10g.80280249T>ACA377362742MAT1Ac.473A>T (p.His158Leu)
c.284A>T (p.His95Leu)
c.350A>T (p.His117Leu)
10g.80280249T>CCA377362743MAT1Ac.473A>G (p.His158Arg)
c.284A>G (p.His95Arg)
c.350A>G (p.His117Arg)
10g.80280249T>GCA377362744MAT1Ac.473A>C (p.His158Pro)
c.284A>C (p.His95Pro)
c.350A>C (p.His117Pro)
 dbSNP
10g.80280249T=CA1922577911MAT1Ac.473A= (p.His158=)
c.284A= (p.His95=)
c.350A= (p.His117=)
10g.80280250G>ACA377362745MAT1Ac.472C>T (p.His158Tyr)
c.283C>T (p.His95Tyr)
c.349C>T (p.His117Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80280250G>CCA377362746MAT1Ac.472C>G (p.His158Asp)
c.283C>G (p.His95Asp)
c.349C>G (p.His117Asp)
10g.80280250G=CA1922577913MAT1Ac.472C= (p.His158=)
c.283C= (p.His95=)
c.349C= (p.His117=)
10g.80280250G>TCA377362747MAT1Ac.472C>A (p.His158Asn)
c.283C>A (p.His95Asn)
c.349C>A (p.His117Asn)
10g.80280251A>CCA470468421MAT1Ac.471T>G (p.Ala157=)
c.282T>G (p.Ala94=)
c.348T>G (p.Ala116=)
10g.80280251A>GCA470468422MAT1Ac.471T>C (p.Ala157=)
c.282T>C (p.Ala94=)
c.348T>C (p.Ala116=)
10g.80280251A>TCA470468426MAT1Ac.471T>A (p.Ala157=)
c.282T>A (p.Ala94=)
c.348T>A (p.Ala116=)
10g.80280252G>ACA377362748MAT1Ac.470C>T (p.Ala157Val)
c.281C>T (p.Ala94Val)
c.347C>T (p.Ala116Val)
 ClinVar
10g.80280252G>CCA377362749MAT1Ac.470C>G (p.Ala157Gly)
c.281C>G (p.Ala94Gly)
c.347C>G (p.Ala116Gly)
 gnomAD v4
10g.80280252G>TCA377362750MAT1Ac.470C>A (p.Ala157Asp)
c.281C>A (p.Ala94Asp)
c.347C>A (p.Ala116Asp)
10g.80280253C>ACA377362751MAT1Ac.469G>T (p.Ala157Ser)
c.280G>T (p.Ala94Ser)
c.346G>T (p.Ala116Ser)
10g.80280253C>GCA377362752MAT1Ac.469G>C (p.Ala157Pro)
c.280G>C (p.Ala94Pro)
c.346G>C (p.Ala116Pro)
10g.80280253C>TCA377362753MAT1Ac.469G>A (p.Ala157Thr)
c.280G>A (p.Ala94Thr)
c.346G>A (p.Ala116Thr)
10g.80280254A=CA1922577914MAT1Ac.468T= (p.Leu156=)
c.279T= (p.Leu93=)
c.345T= (p.Leu115=)
10g.80280254A>CCA470468438MAT1Ac.468T>G (p.Leu156=)
c.279T>G (p.Leu93=)
c.345T>G (p.Leu115=)
10g.80280254A>GCA470468441MAT1Ac.468T>C (p.Leu156=)
c.279T>C (p.Leu93=)
c.345T>C (p.Leu115=)
 dbSNP gnomAD v2
10g.80280254A>TCA470468443MAT1Ac.468T>A (p.Leu156=)
c.279T>A (p.Leu93=)
c.345T>A (p.Leu115=)
10g.80280255A>CCA377362756MAT1Ac.467T>G (p.Leu156Arg)
c.278T>G (p.Leu93Arg)
c.344T>G (p.Leu115Arg)
10g.80280255A>GCA377362754MAT1Ac.467T>C (p.Leu156Pro)
c.278T>C (p.Leu93Pro)
c.344T>C (p.Leu115Pro)
10g.80280255A>TCA377362755MAT1Ac.467T>A (p.Leu156His)
c.278T>A (p.Leu93His)
c.344T>A (p.Leu115His)
10g.80280256G>ACA377362757MAT1Ac.466C>T (p.Leu156Phe)
c.277C>T (p.Leu93Phe)
c.343C>T (p.Leu115Phe)
10g.80280256G>CCA377362758MAT1Ac.466C>G (p.Leu156Val)
c.277C>G (p.Leu93Val)
c.343C>G (p.Leu115Val)
10g.80280256G>TCA377362759MAT1Ac.466C>A (p.Leu156Ile)
c.277C>A (p.Leu93Ile)
c.343C>A (p.Leu115Ile)
10g.80280257G>ACA470468455MAT1Ac.465C>T (p.Ile155=)
c.276C>T (p.Ile92=)
c.342C>T (p.Ile114=)
10g.80280257G>CCA377362760MAT1Ac.465C>G (p.Ile155Met)
c.276C>G (p.Ile92Met)
c.342C>G (p.Ile114Met)
10g.80280257G>TCA470468459MAT1Ac.465C>A (p.Ile155=)
c.276C>A (p.Ile92=)
c.342C>A (p.Ile114=)
10g.80280258A>CCA377362761MAT1Ac.464T>G (p.Ile155Ser)
c.275T>G (p.Ile92Ser)
c.341T>G (p.Ile114Ser)
10g.80280258A>GCA377362762MAT1Ac.464T>C (p.Ile155Thr)
c.275T>C (p.Ile92Thr)
c.341T>C (p.Ile114Thr)
10g.80280258A>TCA377362763MAT1Ac.464T>A (p.Ile155Asn)
c.275T>A (p.Ile92Asn)
c.341T>A (p.Ile114Asn)
10g.80280261_80280275delCA2609913838MAT1Ac.450_464del (p.Met150_Ile154del)
c.261_275del (p.Met87_Ile91del)
c.327_341del (p.Met109_Ile113del)
 gnomAD v4
10g.80280259T>ACA377362764MAT1Ac.463A>T (p.Ile155Phe)
c.274A>T (p.Ile92Phe)
c.340A>T (p.Ile114Phe)
10g.80280259T>CCA377362765MAT1Ac.463A>G (p.Ile155Val)
c.274A>G (p.Ile92Val)
c.340A>G (p.Ile114Val)
10g.80280259T>GCA377362766MAT1Ac.463A>C (p.Ile155Leu)
c.274A>C (p.Ile92Leu)
c.340A>C (p.Ile114Leu)
10g.80280260G>ACA470468472MAT1Ac.462C>T (p.Ile154=)
c.273C>T (p.Ile91=)
c.339C>T (p.Ile113=)
10g.80280260G>CCA377362767MAT1Ac.462C>G (p.Ile154Met)
c.273C>G (p.Ile91Met)
c.339C>G (p.Ile113Met)
10g.80280260G>TCA470468476MAT1Ac.462C>A (p.Ile154=)
c.273C>A (p.Ile91=)
c.339C>A (p.Ile113=)
 dbSNP
10g.80280261A>CCA377362770MAT1Ac.461T>G (p.Ile154Ser)
c.272T>G (p.Ile91Ser)
c.338T>G (p.Ile113Ser)
 gnomAD v4
10g.80280261A>GCA377362769MAT1Ac.461T>C (p.Ile154Thr)
c.272T>C (p.Ile91Thr)
c.338T>C (p.Ile113Thr)
 dbSNP
10g.80280261A>TCA377362768MAT1Ac.461T>A (p.Ile154Asn)
c.272T>A (p.Ile91Asn)
c.338T>A (p.Ile113Asn)
10g.80280262T>ACA377362771MAT1Ac.460A>T (p.Ile154Phe)
c.271A>T (p.Ile91Phe)
c.337A>T (p.Ile113Phe)
10g.80280262T>CCA5576785MAT1Ac.460A>G (p.Ile154Val)
c.271A>G (p.Ile91Val)
c.337A>G (p.Ile113Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280262T>GCA377362772MAT1Ac.460A>C (p.Ile154Leu)
c.271A>C (p.Ile91Leu)
c.337A>C (p.Ile113Leu)
10g.80280262T=CA1922577916MAT1Ac.460A= (p.Ile154=)
c.271A= (p.Ile91=)
c.337A= (p.Ile113=)
10g.80280263G>ACA470468491MAT1Ac.459C>T (p.Thr153=)
c.270C>T (p.Thr90=)
c.336C>T (p.Thr112=)
 gnomAD v4
10g.80280263G>CCA470468493MAT1Ac.459C>G (p.Thr153=)
c.270C>G (p.Thr90=)
c.336C>G (p.Thr112=)
10g.80280263G>TCA470468496MAT1Ac.459C>A (p.Thr153=)
c.270C>A (p.Thr90=)
c.336C>A (p.Thr112=)
10g.80280264G>ACA377362773MAT1Ac.458C>T (p.Thr153Ile)
c.269C>T (p.Thr90Ile)
c.335C>T (p.Thr112Ile)
10g.80280264G>CCA377362774MAT1Ac.458C>G (p.Thr153Ser)
c.269C>G (p.Thr90Ser)
c.335C>G (p.Thr112Ser)
10g.80280264G=CA1922577917MAT1Ac.458C= (p.Thr153=)
c.269C= (p.Thr90=)
c.335C= (p.Thr112=)
10g.80280264G>TCA377362775MAT1Ac.458C>A (p.Thr153Asn)
c.269C>A (p.Thr90Asn)
c.335C>A (p.Thr112Asn)
10g.80280265T>ACA377362776MAT1Ac.457A>T (p.Thr153Ser)
c.268A>T (p.Thr90Ser)
c.334A>T (p.Thr112Ser)
10g.80280265T>CCA377362777MAT1Ac.457A>G (p.Thr153Ala)
c.268A>G (p.Thr90Ala)
c.334A>G (p.Thr112Ala)
10g.80280265T>GCA377362778MAT1Ac.457A>C (p.Thr153Pro)
c.268A>C (p.Thr90Pro)
c.334A>C (p.Thr112Pro)
10g.80280265dupCA594462499MAT1Ac.457dup (p.Thr153AsnfsTer27)
c.268dup (p.Thr90AsnfsTer27)
c.334dup (p.Thr112AsnfsTer27)
 dbSNP gnomAD v2
10g.80280266G>ACA470468510MAT1Ac.456C>T (p.Leu152=)
c.267C>T (p.Leu89=)
c.333C>T (p.Leu111=)
10g.80280266G>CCA470468513MAT1Ac.456C>G (p.Leu152=)
c.267C>G (p.Leu89=)
c.333C>G (p.Leu111=)
10g.80280266G>TCA470468516MAT1Ac.456C>A (p.Leu152=)
c.267C>A (p.Leu89=)
c.333C>A (p.Leu111=)
10g.80280267A>CCA377362779MAT1Ac.455T>G (p.Leu152Arg)
c.266T>G (p.Leu89Arg)
c.332T>G (p.Leu111Arg)
10g.80280267A>GCA377362780MAT1Ac.455T>C (p.Leu152Pro)
c.266T>C (p.Leu89Pro)
c.332T>C (p.Leu111Pro)
10g.80280267A>TCA377362781MAT1Ac.455T>A (p.Leu152His)
c.266T>A (p.Leu89His)
c.332T>A (p.Leu111His)
10g.80280268G>ACA377362784MAT1Ac.454C>T (p.Leu152Phe)
c.265C>T (p.Leu89Phe)
c.331C>T (p.Leu111Phe)
10g.80280268G>CCA377362782MAT1Ac.454C>G (p.Leu152Val)
c.265C>G (p.Leu89Val)
c.331C>G (p.Leu111Val)
10g.80280268G>TCA377362783MAT1Ac.454C>A (p.Leu152Ile)
c.265C>A (p.Leu89Ile)
c.331C>A (p.Leu111Ile)
10g.80280269G>ACA470468531MAT1Ac.453C>T (p.Pro151=)
c.264C>T (p.Pro88=)
c.330C>T (p.Pro110=)
 dbSNP gnomAD v2 gnomAD v4
10g.80280269G>CCA470468534MAT1Ac.453C>G (p.Pro151=)
c.264C>G (p.Pro88=)
c.330C>G (p.Pro110=)
 dbSNP gnomAD v2
10g.80280269G=CA1922577919MAT1Ac.453C= (p.Pro151=)
c.264C= (p.Pro88=)
c.330C= (p.Pro110=)
10g.80280269G>TCA470468528MAT1Ac.453C>A (p.Pro151=)
c.264C>A (p.Pro88=)
c.330C>A (p.Pro110=)
10g.80280270G>ACA377362785MAT1Ac.452C>T (p.Pro151Leu)
c.263C>T (p.Pro88Leu)
c.329C>T (p.Pro110Leu)
 ClinVar dbSNP gnomAD v4
10g.80280270G>CCA377362786MAT1Ac.452C>G (p.Pro151Arg)
c.263C>G (p.Pro88Arg)
c.329C>G (p.Pro110Arg)
 dbSNP
10g.80280270G=CA1922577922MAT1Ac.452C= (p.Pro151=)
c.263C= (p.Pro88=)
c.329C= (p.Pro110=)
10g.80280270G>TCA377362787MAT1Ac.452C>A (p.Pro151His)
c.263C>A (p.Pro88His)
c.329C>A (p.Pro110His)
10g.80280271G>ACA377362788MAT1Ac.451C>T (p.Pro151Ser)
c.262C>T (p.Pro88Ser)
c.328C>T (p.Pro110Ser)
10g.80280271G>CCA377362789MAT1Ac.451C>G (p.Pro151Ala)
c.262C>G (p.Pro88Ala)
c.328C>G (p.Pro110Ala)
10g.80280271G>TCA377362790MAT1Ac.451C>A (p.Pro151Thr)
c.262C>A (p.Pro88Thr)
c.328C>A (p.Pro110Thr)
 ClinVar
10g.80280272C>ACA377362791MAT1Ac.450G>T (p.Met150Ile)
c.261G>T (p.Met87Ile)
c.327G>T (p.Met109Ile)
10g.80280272C>GCA377362792MAT1Ac.450G>C (p.Met150Ile)
c.261G>C (p.Met87Ile)
c.327G>C (p.Met109Ile)
10g.80280272C>TCA377362793MAT1Ac.450G>A (p.Met150Ile)
c.261G>A (p.Met87Ile)
c.327G>A (p.Met109Ile)
10g.80280273A>CCA377362794MAT1Ac.449T>G (p.Met150Arg)
c.260T>G (p.Met87Arg)
c.326T>G (p.Met109Arg)
10g.80280273A>GCA377362795MAT1Ac.449T>C (p.Met150Thr)
c.260T>C (p.Met87Thr)
c.326T>C (p.Met109Thr)
10g.80280273A>TCA377362796MAT1Ac.449T>A (p.Met150Lys)
c.260T>A (p.Met87Lys)
c.326T>A (p.Met109Lys)
10g.80280274T>ACA377362798MAT1Ac.448A>T (p.Met150Leu)
c.259A>T (p.Met87Leu)
c.325A>T (p.Met109Leu)
10g.80280274T>CCA377362799MAT1Ac.448A>G (p.Met150Val)
c.259A>G (p.Met87Val)
c.325A>G (p.Met109Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80280274T>GCA377362797MAT1Ac.448A>C (p.Met150Leu)
c.259A>C (p.Met87Leu)
c.325A>C (p.Met109Leu)
 COSMIC
10g.80280274T=CA1922577923MAT1Ac.448A= (p.Met150=)
c.259A= (p.Met87=)
c.325A= (p.Met109=)
10g.80280275G>ACA470468562MAT1Ac.447C>T (p.Cys149=)
c.258C>T (p.Cys86=)
c.324C>T (p.Cys108=)
10g.80280275G>CCA377362801MAT1Ac.447C>G (p.Cys149Trp)
c.258C>G (p.Cys86Trp)
c.324C>G (p.Cys108Trp)
10g.80280275G=CA1922577924MAT1Ac.447C= (p.Cys149=)
c.258C= (p.Cys86=)
c.324C= (p.Cys108=)
10g.80280275G>TCA377362800MAT1Ac.447C>A (p.Cys149Ter)
c.258C>A (p.Cys86Ter)
c.324C>A (p.Cys108Ter)
 dbSNP
10g.80280276C>ACA377362803MAT1Ac.446G>T (p.Cys149Phe)
c.257G>T (p.Cys86Phe)
c.323G>T (p.Cys108Phe)
10g.80280276C=CA1922577925MAT1Ac.446G= (p.Cys149=)
c.257G= (p.Cys86=)
c.323G= (p.Cys108=)
10g.80280276C>GCA377362802MAT1Ac.446G>C (p.Cys149Ser)
c.257G>C (p.Cys86Ser)
c.323G>C (p.Cys108Ser)
10g.80280276C>TCA5576786MAT1Ac.446G>A (p.Cys149Tyr)
c.257G>A (p.Cys86Tyr)
c.323G>A (p.Cys108Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.80280277A>CCA377362804MAT1Ac.445T>G (p.Cys149Gly)
c.256T>G (p.Cys86Gly)
c.322T>G (p.Cys108Gly)
10g.80280277A>GCA377362805MAT1Ac.445T>C (p.Cys149Arg)
c.256T>C (p.Cys86Arg)
c.322T>C (p.Cys108Arg)
10g.80280277A>TCA377362806MAT1Ac.445T>A (p.Cys149Ser)
c.256T>A (p.Cys86Ser)
c.322T>A (p.Cys108Ser)
10g.80280278C>ACA377362807MAT1Ac.444G>T (p.Glu148Asp)
c.255G>T (p.Glu85Asp)
c.321G>T (p.Glu107Asp)
10g.80280278C>GCA377362808MAT1Ac.444G>C (p.Glu148Asp)
c.255G>C (p.Glu85Asp)
c.321G>C (p.Glu107Asp)
10g.80280278C>TCA470468582MAT1Ac.444G>A (p.Glu148=)
c.255G>A (p.Glu85=)
c.321G>A (p.Glu107=)
10g.80280279T>ACA377362809MAT1Ac.443A>T (p.Glu148Val)
c.254A>T (p.Glu85Val)
c.320A>T (p.Glu107Val)
10g.80280279T>CCA377362810MAT1Ac.443A>G (p.Glu148Gly)
c.254A>G (p.Glu85Gly)
c.320A>G (p.Glu107Gly)
10g.80280279T>GCA377362811MAT1Ac.443A>C (p.Glu148Ala)
c.254A>C (p.Glu85Ala)
c.320A>C (p.Glu107Ala)
10g.80280280C>ACA377362812MAT1Ac.442G>T (p.Glu148Ter)
c.253G>T (p.Glu85Ter)
c.319G>T (p.Glu107Ter)
10g.80280280C>GCA377362813MAT1Ac.442G>C (p.Glu148Gln)
c.253G>C (p.Glu85Gln)
c.319G>C (p.Glu107Gln)
10g.80280280C>TCA377362814MAT1Ac.442G>A (p.Glu148Lys)
c.253G>A (p.Glu85Lys)
c.319G>A (p.Glu107Lys)
10g.80280281C>ACA377362815MAT1Ac.441G>T (p.Glu147Asp)
c.252G>T (p.Glu84Asp)
c.318G>T (p.Glu106Asp)
10g.80280281C>GCA377362816MAT1Ac.441G>C (p.Glu147Asp)
c.252G>C (p.Glu84Asp)
c.318G>C (p.Glu106Asp)
10g.80280281C>TCA470468607MAT1Ac.441G>A (p.Glu147=)
c.252G>A (p.Glu84=)
c.318G>A (p.Glu106=)
 COSMIC
10g.80280281_80280284delinsCTCTCA1922577926MAT1Ac.438_441delinsAGAG (p.Thr146=)
c.249_252delinsAGAG (p.Thr83=)
c.315_318delinsAGAG (p.Thr105=)
10g.80280282T>ACA377362817MAT1Ac.440A>T (p.Glu147Val)
c.251A>T (p.Glu84Val)
c.317A>T (p.Glu106Val)
10g.80280282T>CCA377362818MAT1Ac.440A>G (p.Glu147Gly)
c.251A>G (p.Glu84Gly)
c.317A>G (p.Glu106Gly)
10g.80280282T>GCA377362819MAT1Ac.440A>C (p.Glu147Ala)
c.251A>C (p.Glu84Ala)
c.317A>C (p.Glu106Ala)
10g.80280282_80280284delCA594462503MAT1Ac.438_440del (p.Glu147del)
c.249_251del (p.Glu84del)
c.315_317del (p.Glu106del)
 dbSNP gnomAD v2 gnomAD v4
10g.80280283C>ACA377362820MAT1Ac.439G>T (p.Glu147Ter)
c.250G>T (p.Glu84Ter)
c.316G>T (p.Glu106Ter)
10g.80280283C>GCA377362821MAT1Ac.439G>C (p.Glu147Gln)
c.250G>C (p.Glu84Gln)
c.316G>C (p.Glu106Gln)
10g.80280283C>TCA377362822MAT1Ac.439G>A (p.Glu147Lys)
c.250G>A (p.Glu84Lys)
c.316G>A (p.Glu106Lys)
10g.80280284T>ACA470468619MAT1Ac.438A>T (p.Thr146=)
c.249A>T (p.Thr83=)
c.315A>T (p.Thr105=)
10g.80280284T>CCA470468621MAT1Ac.438A>G (p.Thr146=)
c.249A>G (p.Thr83=)
c.315A>G (p.Thr105=)
10g.80280284T>GCA470468624MAT1Ac.438A>C (p.Thr146=)
c.249A>C (p.Thr83=)
c.315A>C (p.Thr105=)
10g.80280285G>ACA377362823MAT1Ac.437C>T (p.Thr146Ile)
c.248C>T (p.Thr83Ile)
c.314C>T (p.Thr105Ile)
10g.80280285G>CCA377362824MAT1Ac.437C>G (p.Thr146Arg)
c.248C>G (p.Thr83Arg)
c.314C>G (p.Thr105Arg)
10g.80280285G>TCA377362825MAT1Ac.437C>A (p.Thr146Lys)
c.248C>A (p.Thr83Lys)
c.314C>A (p.Thr105Lys)
10g.80280286T>ACA377362826MAT1Ac.436A>T (p.Thr146Ser)
c.247A>T (p.Thr83Ser)
c.313A>T (p.Thr105Ser)
10g.80280286T>CCA377362827MAT1Ac.436A>G (p.Thr146Ala)
c.247A>G (p.Thr83Ala)
c.313A>G (p.Thr105Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80280286T>GCA377362828MAT1Ac.436A>C (p.Thr146Pro)
c.247A>C (p.Thr83Pro)
c.313A>C (p.Thr105Pro)
10g.80280286T=CA1922577927MAT1Ac.436A= (p.Thr146=)
c.247A= (p.Thr83=)
c.313A= (p.Thr105=)
10g.80280287C>ACA377362830MAT1Ac.435G>T (p.Glu145Asp)
c.246G>T (p.Glu82Asp)
c.312G>T (p.Glu104Asp)
10g.80280287C>GCA377362829MAT1Ac.435G>C (p.Glu145Asp)
c.246G>C (p.Glu82Asp)
c.312G>C (p.Glu104Asp)
10g.80280287C>TCA470468641MAT1Ac.435G>A (p.Glu145=)
c.246G>A (p.Glu82=)
c.312G>A (p.Glu104=)
10g.80280288T>ACA377362831MAT1Ac.434A>T (p.Glu145Val)
c.245A>T (p.Glu82Val)
c.311A>T (p.Glu104Val)
10g.80280288T>CCA210326937MAT1Ac.434A>G (p.Glu145Gly)
c.245A>G (p.Glu82Gly)
c.311A>G (p.Glu104Gly)
 dbSNP
10g.80280288T>GCA377362832MAT1Ac.434A>C (p.Glu145Ala)
c.245A>C (p.Glu82Ala)
c.311A>C (p.Glu104Ala)
10g.80280288T=CA1922577928MAT1Ac.434A= (p.Glu145=)
c.245A= (p.Glu82=)
c.311A= (p.Glu104=)
10g.80280291_80280293delCA2609913840MAT1Ac.432_434del (p.Asp144del)
c.243_245del (p.Asp81del)
c.309_311del (p.Asp103del)
 gnomAD v4
10g.80280289C>ACA377362833MAT1Ac.433G>T (p.Glu145Ter)
c.244G>T (p.Glu82Ter)
c.310G>T (p.Glu104Ter)
10g.80280289C=CA1922577929MAT1Ac.433G= (p.Glu145=)
c.244G= (p.Glu82=)
c.310G= (p.Glu104=)
10g.80280289C>GCA377362834MAT1Ac.433G>C (p.Glu145Gln)
c.244G>C (p.Glu82Gln)
c.310G>C (p.Glu104Gln)
10g.80280289C>TCA210326938MAT1Ac.433G>A (p.Glu145Lys)
c.244G>A (p.Glu82Lys)
c.310G>A (p.Glu104Lys)
 ClinVar dbSNP gnomAD v4
10g.80280290G>ACA5576787MAT1Ac.432C>T (p.Asp144=)
c.243C>T (p.Asp81=)
c.309C>T (p.Asp103=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280290G>CCA377362835MAT1Ac.432C>G (p.Asp144Glu)
c.243C>G (p.Asp81Glu)
c.309C>G (p.Asp103Glu)
10g.80280290G=CA1922577930MAT1Ac.432C= (p.Asp144=)
c.243C= (p.Asp81=)
c.309C= (p.Asp103=)
10g.80280290G>TCA377362836MAT1Ac.432C>A (p.Asp144Glu)
c.243C>A (p.Asp81Glu)
c.309C>A (p.Asp103Glu)
10g.80280291T>ACA377362837MAT1Ac.431A>T (p.Asp144Val)
c.242A>T (p.Asp81Val)
c.308A>T (p.Asp103Val)
10g.80280291T>CCA377362838MAT1Ac.431A>G (p.Asp144Gly)
c.242A>G (p.Asp81Gly)
c.308A>G (p.Asp103Gly)
10g.80280291T>GCA377362839MAT1Ac.431A>C (p.Asp144Ala)
c.242A>C (p.Asp81Ala)
c.308A>C (p.Asp103Ala)
10g.80280292C>ACA377362840MAT1Ac.430G>T (p.Asp144Tyr)
c.241G>T (p.Asp81Tyr)
c.307G>T (p.Asp103Tyr)
10g.80280292C=CA1922577931MAT1Ac.430G= (p.Asp144=)
c.241G= (p.Asp81=)
c.307G= (p.Asp103=)
10g.80280292C>GCA377362841MAT1Ac.430G>C (p.Asp144His)
c.241G>C (p.Asp81His)
c.307G>C (p.Asp103His)
 gnomAD v4
10g.80280292C>TCA5576788MAT1Ac.430G>A (p.Asp144Asn)
c.241G>A (p.Asp81Asn)
c.307G>A (p.Asp103Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280293G>ACA5576789MAT1Ac.429C>T (p.Thr143=)
c.240C>T (p.Thr80=)
c.306C>T (p.Thr102=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280293G>CCA470468674MAT1Ac.429C>G (p.Thr143=)
c.240C>G (p.Thr80=)
c.306C>G (p.Thr102=)
10g.80280293G=CA1922577932MAT1Ac.429C= (p.Thr143=)
c.240C= (p.Thr80=)
c.306C= (p.Thr102=)
10g.80280293G>TCA470468671MAT1Ac.429C>A (p.Thr143=)
c.240C>A (p.Thr80=)
c.306C>A (p.Thr102=)
10g.80280294G>ACA377362842MAT1Ac.428C>T (p.Thr143Ile)
c.239C>T (p.Thr80Ile)
c.305C>T (p.Thr102Ile)
10g.80280294G>CCA377362843MAT1Ac.428C>G (p.Thr143Ser)
c.239C>G (p.Thr80Ser)
c.305C>G (p.Thr102Ser)
 dbSNP
10g.80280294G=CA1922577933MAT1Ac.428C= (p.Thr143=)
c.239C= (p.Thr80=)
c.305C= (p.Thr102=)
10g.80280294G>TCA377362844MAT1Ac.428C>A (p.Thr143Asn)
c.239C>A (p.Thr80Asn)
c.305C>A (p.Thr102Asn)
10g.80280295T>ACA377362847MAT1Ac.427A>T (p.Thr143Ser)
c.238A>T (p.Thr80Ser)
c.304A>T (p.Thr102Ser)
 gnomAD v4
10g.80280295T>CCA377362846MAT1Ac.427A>G (p.Thr143Ala)
c.238A>G (p.Thr80Ala)
c.304A>G (p.Thr102Ala)
10g.80280295T>GCA377362845MAT1Ac.427A>C (p.Thr143Pro)
c.238A>C (p.Thr80Pro)
c.304A>C (p.Thr102Pro)
10g.80280296A=CA1630848389MAT1Ac.426T= (p.Ala142=)
c.237T= (p.Ala79=)
c.303T= (p.Ala101=)
10g.80280296A>CCA470468689MAT1Ac.426T>G (p.Ala142=)
c.237T>G (p.Ala79=)
c.303T>G (p.Ala101=)
 dbSNP
10g.80280296A>GCA5576790MAT1Ac.426T>C (p.Ala142=)
c.237T>C (p.Ala79=)
c.303T>C (p.Ala101=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280296A>TCA470468694MAT1Ac.426T>A (p.Ala142=)
c.237T>A (p.Ala79=)
c.303T>A (p.Ala101=)
 dbSNP
10g.80280297G>ACA377362848MAT1Ac.425C>T (p.Ala142Val)
c.236C>T (p.Ala79Val)
c.302C>T (p.Ala101Val)
 gnomAD v4
10g.80280297G>CCA377362849MAT1Ac.425C>G (p.Ala142Gly)
c.236C>G (p.Ala79Gly)
c.302C>G (p.Ala101Gly)
10g.80280297G>TCA377362850MAT1Ac.425C>A (p.Ala142Asp)
c.236C>A (p.Ala79Asp)
c.302C>A (p.Ala101Asp)
10g.80280298C>ACA377362851MAT1Ac.424G>T (p.Ala142Ser)
c.235G>T (p.Ala79Ser)
c.301G>T (p.Ala101Ser)
10g.80280298C>GCA377362852MAT1Ac.424G>C (p.Ala142Pro)
c.235G>C (p.Ala79Pro)
c.301G>C (p.Ala101Pro)
10g.80280298C>TCA377362853MAT1Ac.424G>A (p.Ala142Thr)
c.235G>A (p.Ala79Thr)
c.301G>A (p.Ala101Thr)
10g.80280299A>CCA377362855MAT1Ac.423T>G (p.Tyr141Ter)
c.234T>G (p.Tyr78Ter)
c.300T>G (p.Tyr100Ter)
10g.80280299A>GCA470468706MAT1Ac.423T>C (p.Tyr141=)
c.234T>C (p.Tyr78=)
c.300T>C (p.Tyr100=)
 dbSNP gnomAD v4
10g.80280299A>TCA377362854MAT1Ac.423T>A (p.Tyr141Ter)
c.234T>A (p.Tyr78Ter)
c.300T>A (p.Tyr100Ter)
10g.80280300T>ACA377362856MAT1Ac.422A>T (p.Tyr141Phe)
c.233A>T (p.Tyr78Phe)
c.299A>T (p.Tyr100Phe)
 gnomAD v4
10g.80280300T>CCA377362858MAT1Ac.422A>G (p.Tyr141Cys)
c.233A>G (p.Tyr78Cys)
c.299A>G (p.Tyr100Cys)
 ClinVar dbSNP gnomAD v4
10g.80280300T>GCA377362857MAT1Ac.422A>C (p.Tyr141Ser)
c.233A>C (p.Tyr78Ser)
c.299A>C (p.Tyr100Ser)
10g.80280300T=CA1922577934MAT1Ac.422A= (p.Tyr141=)
c.233A= (p.Tyr78=)
c.299A= (p.Tyr100=)
10g.80280301A>CCA377362859MAT1Ac.421T>G (p.Tyr141Asp)
c.232T>G (p.Tyr78Asp)
c.298T>G (p.Tyr100Asp)
10g.80280301A>GCA377362860MAT1Ac.421T>C (p.Tyr141His)
c.232T>C (p.Tyr78His)
c.298T>C (p.Tyr100His)
10g.80280301A>TCA377362861MAT1Ac.421T>A (p.Tyr141Asn)
c.232T>A (p.Tyr78Asn)
c.298T>A (p.Tyr100Asn)
10g.80280302G>ACA470468709MAT1Ac.420C>T (p.Gly140=)
c.231C>T (p.Gly77=)
c.297C>T (p.Gly99=)
10g.80280302G>CCA470468712MAT1Ac.420C>G (p.Gly140=)
c.231C>G (p.Gly77=)
c.297C>G (p.Gly99=)
10g.80280302G>TCA470468715MAT1Ac.420C>A (p.Gly140=)
c.231C>A (p.Gly77=)
c.297C>A (p.Gly99=)
10g.80280303C>ACA377362862MAT1Ac.419G>T (p.Gly140Val)
c.230G>T (p.Gly77Val)
c.296G>T (p.Gly99Val)
10g.80280303C>GCA377362863MAT1Ac.419G>C (p.Gly140Ala)
c.230G>C (p.Gly77Ala)
c.296G>C (p.Gly99Ala)
10g.80280303C>TCA377362864MAT1Ac.419G>A (p.Gly140Asp)
c.230G>A (p.Gly77Asp)
c.296G>A (p.Gly99Asp)
10g.80280304C>ACA377362865MAT1Ac.418G>T (p.Gly140Cys)
c.229G>T (p.Gly77Cys)
c.295G>T (p.Gly99Cys)
10g.80280304C=CA1922577935MAT1Ac.418G= (p.Gly140=)
c.229G= (p.Gly77=)
c.295G= (p.Gly99=)
10g.80280304C>GCA377362866MAT1Ac.418G>C (p.Gly140Arg)
c.229G>C (p.Gly77Arg)
c.295G>C (p.Gly99Arg)
10g.80280304C>TCA377362867MAT1Ac.418G>A (p.Gly140Ser)
c.229G>A (p.Gly77Ser)
c.295G>A (p.Gly99Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.80280305G>ACA5576791MAT1Ac.417C>T (p.Phe139=)
c.228C>T (p.Phe76=)
c.294C>T (p.Phe98=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.80280305G>CCA377362868MAT1Ac.417C>G (p.Phe139Leu)
c.228C>G (p.Phe76Leu)
c.294C>G (p.Phe98Leu)
 dbSNP gnomAD v3 gnomAD v4
10g.80280305G=CA1922577936MAT1Ac.417C= (p.Phe139=)
c.228C= (p.Phe76=)
c.294C= (p.Phe98=)
10g.80280305G>TCA377362869MAT1Ac.417C>A (p.Phe139Leu)
c.228C>A (p.Phe76Leu)
c.294C>A (p.Phe98Leu)
10g.80280306A>CCA377362872MAT1Ac.416T>G (p.Phe139Cys)
c.227T>G (p.Phe76Cys)
c.293T>G (p.Phe98Cys)
10g.80280306A>GCA377362870MAT1Ac.416T>C (p.Phe139Ser)
c.227T>C (p.Phe76Ser)
c.293T>C (p.Phe98Ser)
10g.80280306A>TCA377362871MAT1Ac.416T>A (p.Phe139Tyr)
c.227T>A (p.Phe76Tyr)
c.293T>A (p.Phe98Tyr)
10g.80280307A>CCA377362873MAT1Ac.415T>G (p.Phe139Val)
c.226T>G (p.Phe76Val)
c.292T>G (p.Phe98Val)
10g.80280307A>GCA377362874MAT1Ac.415T>C (p.Phe139Leu)
c.226T>C (p.Phe76Leu)
c.292T>C (p.Phe98Leu)
10g.80280307A>TCA377362875MAT1Ac.415T>A (p.Phe139Ile)
c.226T>A (p.Phe76Ile)
c.292T>A (p.Phe98Ile)
10g.80280308C>ACA377362876MAT1Ac.414G>T (p.Met138Ile)
c.225G>T (p.Met75Ile)
c.291G>T (p.Met97Ile)
10g.80280308C>GCA377362877MAT1Ac.414G>C (p.Met138Ile)
c.225G>C (p.Met75Ile)
c.291G>C (p.Met97Ile)
10g.80280308C>TCA377362878MAT1Ac.414G>A (p.Met138Ile)
c.225G>A (p.Met75Ile)
c.291G>A (p.Met97Ile)
 gnomAD v4
10g.80280309A>CCA377362879MAT1Ac.413T>G (p.Met138Arg)
c.224T>G (p.Met75Arg)
c.290T>G (p.Met97Arg)
10g.80280309A>GCA377362880MAT1Ac.413T>C (p.Met138Thr)
c.224T>C (p.Met75Thr)
c.290T>C (p.Met97Thr)
10g.80280309A>TCA377362881MAT1Ac.413T>A (p.Met138Lys)
c.224T>A (p.Met75Lys)
c.290T>A (p.Met97Lys)
10g.80280310T>ACA377362882MAT1Ac.412A>T (p.Met138Leu)
c.223A>T (p.Met75Leu)
c.289A>T (p.Met97Leu)
10g.80280310T>CCA377362883MAT1Ac.412A>G (p.Met138Val)
c.223A>G (p.Met75Val)
c.289A>G (p.Met97Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.80280310T>GCA377362884MAT1Ac.412A>C (p.Met138Leu)
c.223A>C (p.Met75Leu)
c.289A>C (p.Met97Leu)
10g.80280310T=CA1922577937MAT1Ac.412A= (p.Met138=)
c.223A= (p.Met75=)
c.289A= (p.Met97=)
10g.80280311C>ACA377362886MAT1Ac.411G>T (p.Leu137Phe)
c.222G>T (p.Leu74Phe)
c.288G>T (p.Leu96Phe)
10g.80280311C>GCA377362885MAT1Ac.411G>C (p.Leu137Phe)
c.222G>C (p.Leu74Phe)
c.288G>C (p.Leu96Phe)
10g.80280311C>TCA470468739MAT1Ac.411G>A (p.Leu137=)
c.222G>A (p.Leu74=)
c.288G>A (p.Leu96=)
10g.80280312A>CCA377362887MAT1Ac.410T>G (p.Leu137Trp)
c.221T>G (p.Leu74Trp)
c.287T>G (p.Leu96Trp)
10g.80280312A>GCA377362889MAT1Ac.410T>C (p.Leu137Ser)
c.221T>C (p.Leu74Ser)
c.287T>C (p.Leu96Ser)
10g.80280312A>TCA377362888MAT1Ac.410T>A (p.Leu137Ter)
c.221T>A (p.Leu74Ter)
c.287T>A (p.Leu96Ter)
10g.80280313_80280314delCA2544980091MAT1Ac.409_410del (p.Leu137AspfsTer?)
c.220_221del (p.Leu74AspfsTer?)
c.286_287del (p.Leu96AspfsTer?)
10g.80280312_80280313insTCA2536161779MAT1Ac.409_410insA (p.Leu137TyrfsTer?)
c.220_221insA (p.Leu74TyrfsTer?)
c.286_287insA (p.Leu96TyrfsTer?)
10g.80280312_80280313insTGCCTTGGTCGCCGGCGCCCTGGTTGTCA2527687608MAT1Ac.409_410insACAACCAGGGCGCCGGCGACCAAGGCA (p.Leu137delinsTyrAsnGlnGlyAlaGlyAspGlnGlyMet)
c.220_221insACAACCAGGGCGCCGGCGACCAAGGCA (p.Leu74delinsTyrAsnGlnGlyAlaGlyAspGlnGlyMet)
c.286_287insACAACCAGGGCGCCGGCGACCAAGGCA (p.Leu96delinsTyrAsnGlnGlyAlaGlyAspGlnGlyMet)
10g.80280313A>CCA377362890MAT1Ac.409T>G (p.Leu137Val)
c.220T>G (p.Leu74Val)
c.286T>G (p.Leu96Val)
10g.80280313A>GCA470468751MAT1Ac.409T>C (p.Leu137=)
c.220T>C (p.Leu74=)
c.286T>C (p.Leu96=)
10g.80280313A>TCA377362891MAT1Ac.409T>A (p.Leu137Met)
c.220T>A (p.Leu74Met)
c.286T>A (p.Leu96Met)
10g.80280313_80280314insCCTTGGTCTCCTGCCA2538858906MAT1Ac.408_409insGCAGGAGACCAAGG (p.Leu137AlafsTer6)
c.219_220insGCAGGAGACCAAGG (p.Leu74AlafsTer6)
c.285_286insGCAGGAGACCAAGG (p.Leu96AlafsTer6)
10g.80280313_80280314insGGGATCAGTGCGCTCTACGCCGCGGTTGATGTCGCCCA2504445136MAT1Ac.408_409insGGCGACATCAACCGCGGCGTAGAGCGCACTGATCCC (p.Gly136_Leu137insGlyAspIleAsnArgGlyValGluArgThrAspPro)
c.219_220insGGCGACATCAACCGCGGCGTAGAGCGCACTGATCCC (p.Gly73_Leu74insGlyAspIleAsnArgGlyValGluArgThrAspPro)
c.285_286insGGCGACATCAACCGCGGCGTAGAGCGCACTGATCCC (p.Gly95_Leu96insGlyAspIleAsnArgGlyValGluArgThrAspPro)
10g.80280314A>CCA470468756MAT1Ac.408T>G (p.Gly136=)
c.219T>G (p.Gly73=)
c.285T>G (p.Gly95=)
10g.80280314A>GCA470468762MAT1Ac.408T>C (p.Gly136=)
c.219T>C (p.Gly73=)
c.285T>C (p.Gly95=)
10g.80280314A>TCA470468759MAT1Ac.408T>A (p.Gly136=)
c.219T>A (p.Gly73=)
c.285T>A (p.Gly95=)
10g.80280314_80280315insTGCCTTGGTCGCCGGCGCA2507548543MAT1Ac.407_408insCGCCGGCGACCAAGGCA (p.Leu137AlafsTer7)
c.218_219insCGCCGGCGACCAAGGCA (p.Leu74AlafsTer7)
c.284_285insCGCCGGCGACCAAGGCA (p.Leu96AlafsTer7)
10g.80280315C>ACA377362892MAT1Ac.407G>T (p.Gly136Val)
c.218G>T (p.Gly73Val)
c.284G>T (p.Gly95Val)
 dbSNP gnomAD v2 gnomAD v4
10g.80280315C=CA1922577938MAT1Ac.407G= (p.Gly136=)
c.218G= (p.Gly73=)
c.284G= (p.Gly95=)
10g.80280315C>GCA377362893MAT1Ac.407G>C (p.Gly136Ala)
c.218G>C (p.Gly73Ala)
c.284G>C (p.Gly95Ala)
10g.80280315C>TCA377362894MAT1Ac.407G>A (p.Gly136Asp)
c.218G>A (p.Gly73Asp)
c.284G>A (p.Gly95Asp)
10g.80280316C>ACA377362895MAT1Ac.406G>T (p.Gly136Cys)
c.217G>T (p.Gly73Cys)
c.283G>T (p.Gly95Cys)
10g.80280316C>GCA377362896MAT1Ac.406G>C (p.Gly136Arg)
c.217G>C (p.Gly73Arg)
c.283G>C (p.Gly95Arg)
10g.80280316C>TCA377362897MAT1Ac.406G>A (p.Gly136Ser)
c.217G>A (p.Gly73Ser)
c.283G>A (p.Gly95Ser)
10g.80280317C>ACA377362898MAT1Ac.406-1G>T (n.406-1G>T)
c.217-1G>T (n.217-1G>T)
c.283-1G>T (n.283-1G>T)
 dbSNP gnomAD v4
10g.80280317C=CA1922577939MAT1Ac.406-1G= (n.406-1G=)
c.217-1G= (n.217-1G=)
c.283-1G= (n.283-1G=)
10g.80280317C>GCA377362899MAT1Ac.406-1G>C (n.406-1G>C)
c.217-1G>C (n.217-1G>C)
c.283-1G>C (n.283-1G>C)
10g.80280317C>TCA377362900MAT1Ac.406-1G>A (n.406-1G>A)
c.217-1G>A (n.217-1G>A)
c.283-1G>A (n.283-1G>A)
 gnomAD v4
10g.80280318T>ACA210326982MAT1Ac.406-2A>T (n.406-2A>T)
c.217-2A>T (n.217-2A>T)
c.283-2A>T (n.283-2A>T)
 dbSNP
10g.80280318T>CCA377362902MAT1Ac.406-2A>G (n.406-2A>G)
c.217-2A>G (n.217-2A>G)
c.283-2A>G (n.283-2A>G)
10g.80280318T>GCA377362901MAT1Ac.406-2A>C (n.406-2A>C)
c.217-2A>C (n.217-2A>C)
c.283-2A>C (n.283-2A>C)
10g.80280318T=CA1922577940MAT1Ac.406-2A= (n.406-2A=)
c.217-2A= (n.217-2A=)
c.283-2A= (n.283-2A=)
10g.80280320_80280321insTCGTCCGTATCTTTATTGGAAACGCCTCTGTTTATATCATCGCTCTGCTCGTGAATAGCCGTGAGGATACCGCATGAATCACCGTCAAACTGATATTCAGTTTTTGTCA2506115610MAT1Ac.406-2_406-1insAAAACTGAATATCAGTTTGACGGTGATTCATGCGGTATCCTCACGGCTATTCACGAGCAGAGCGATGATATAAACAGAGGCGTTTCCAATAAAGATACGGACGAACA (n.406-2_406-1insAAAACTGAATATCAGTTTGACGGTGATTCATGCGGTATCCTCACGGCTATTCACGAGCAGAGCGATGATATAAACAGAGGCGTTTCCAATAAAGATACGGACGAACA)
c.217-2_217-1insAAAACTGAATATCAGTTTGACGGTGATTCATGCGGTATCCTCACGGCTATTCACGAGCAGAGCGATGATATAAACAGAGGCGTTTCCAATAAAGATACGGACGAACA (n.217-2_217-1insAAAACTGAATATCAGTTTGACGGTGATTCATGCGGTATCCTCACGGCTATTCACGAGCAGAGCGATGATATAAACAGAGGCGTTTCCAATAAAGATACGGACGAACA)
c.283-2_283-1insAAAACTGAATATCAGTTTGACGGTGATTCATGCGGTATCCTCACGGCTATTCACGAGCAGAGCGATGATATAAACAGAGGCGTTTCCAATAAAGATACGGACGAACA (n.283-2_283-1insAAAACTGAATATCAGTTTGACGGTGATTCATGCGGTATCCTCACGGCTATTCACGAGCAGAGCGATGATATAAACAGAGGCGTTTCCAATAAAGATACGGACGAACA)
10g.80280319G>ACA5576792MAT1Ac.406-3C>T (n.406-3C>T)
c.217-3C>T (n.217-3C>T)
c.283-3C>T (n.283-3C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280319G=CA1922577941MAT1Ac.406-3C= (n.406-3C=)
c.217-3C= (n.217-3C=)
c.283-3C= (n.283-3C=)
10g.80280319_80280320insCTCGTGGATAGCGGAGAGTACGCCGCACGATTTGGCTTCAAATTGATATTCGCTTTCA2543222610MAT1Ac.406-4_406-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAG (n.406-4_406-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAG)
c.217-4_217-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAG (n.217-4_217-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAG)
c.283-4_283-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAG (n.283-4_283-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAG)
10g.80280319_80280320insGTTGTAGGGGTCAGTGCGCTCTACGCCGCGGTTGATGTCGCCGCTCTGCTCGTGGATAGCGGAGAGTACGCCGCACGATTTGGCTTCAAATTGATATTCGCTTTCA2564195220MAT1Ac.406-4_406-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAGCAGAGCGGCGACATCAACCGCGGCGTAGAGCGCACTGACCCCTACAAC (n.406-4_406-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAGCAGAGCGGCGACATCAACCGCGGCGTAGAGCGCACTGACCCCTACAAC)
c.217-4_217-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAGCAGAGCGGCGACATCAACCGCGGCGTAGAGCGCACTGACCCCTACAAC (n.217-4_217-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAGCAGAGCGGCGACATCAACCGCGGCGTAGAGCGCACTGACCCCTACAAC)
c.283-4_283-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAGCAGAGCGGCGACATCAACCGCGGCGTAGAGCGCACTGACCCCTACAAC (n.283-4_283-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAGCAGAGCGGCGACATCAACCGCGGCGTAGAGCGCACTGACCCCTACAAC)
10g.80280319_80280320insGTTGTAGGGATCAGTGCGCTCTACGCCGCGGTTGATGTCGCCGCTCTGCTCGTGGATAGCGGAGAGTACGCCGCACGATTTGGCTTCAAATTGATATTCGCTTTCA2534550842MAT1Ac.406-4_406-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAGCAGAGCGGCGACATCAACCGCGGCGTAGAGCGCACTGATCCCTACAAC (n.406-4_406-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAGCAGAGCGGCGACATCAACCGCGGCGTAGAGCGCACTGATCCCTACAAC)
c.217-4_217-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAGCAGAGCGGCGACATCAACCGCGGCGTAGAGCGCACTGATCCCTACAAC (n.217-4_217-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAGCAGAGCGGCGACATCAACCGCGGCGTAGAGCGCACTGATCCCTACAAC)
c.283-4_283-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAGCAGAGCGGCGACATCAACCGCGGCGTAGAGCGCACTGATCCCTACAAC (n.283-4_283-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAGCAGAGCGGCGACATCAACCGCGGCGTAGAGCGCACTGATCCCTACAAC)
10g.80280320T>CCA1922577943MAT1Ac.406-4A>G (n.406-4A>G)
c.217-4A>G (n.217-4A>G)
c.283-4A>G (n.283-4A>G)
 dbSNP gnomAD v4
10g.80280320T=CA1922577942MAT1Ac.406-4A= (n.406-4A=)
c.217-4A= (n.217-4A=)
c.283-4A= (n.283-4A=)
10g.80280323C>ACA2609913863MAT1Ac.406-7G>T (n.406-7G>T)
c.217-7G>T (n.217-7G>T)
c.283-7G>T (n.283-7G>T)
 gnomAD v4
10g.80280323C=CA1922577944MAT1Ac.406-7G= (n.406-7G=)
c.217-7G= (n.217-7G=)
c.283-7G= (n.283-7G=)
10g.80280323C>TCA5576793MAT1Ac.406-7G>A (n.406-7G>A)
c.217-7G>A (n.217-7G>A)
c.283-7G>A (n.283-7G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280324G>ACA5576794MAT1Ac.406-8C>T (n.406-8C>T)
c.217-8C>T (n.217-8C>T)
c.283-8C>T (n.283-8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280324G>CCA2574456099MAT1Ac.406-8C>G (n.406-8C>G)
c.217-8C>G (n.217-8C>G)
c.283-8C>G (n.283-8C>G)
10g.80280324G=CA1922577945MAT1Ac.406-8C= (n.406-8C=)
c.217-8C= (n.217-8C=)
c.283-8C= (n.283-8C=)
10g.80280326G>ACA2574456101MAT1Ac.406-10C>T (n.406-10C>T)
c.217-10C>T (n.217-10C>T)
c.283-10C>T (n.283-10C>T)
10g.80280328G>ACA5576795MAT1Ac.406-12C>T (n.406-12C>T)
c.217-12C>T (n.217-12C>T)
c.283-12C>T (n.283-12C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.80280328G>CCA2609913864MAT1Ac.406-12C>G (n.406-12C>G)
c.217-12C>G (n.217-12C>G)
c.283-12C>G (n.283-12C>G)
 gnomAD v4
10g.80280328G=CA1922577946MAT1Ac.406-12C= (n.406-12C=)
c.217-12C= (n.217-12C=)
c.283-12C= (n.283-12C=)
10g.80280328G>TCA2609913865MAT1Ac.406-12C>A (n.406-12C>A)
c.217-12C>A (n.217-12C>A)
c.283-12C>A (n.283-12C>A)
 gnomAD v4
10g.80280329A=CA1922577947MAT1Ac.406-13T= (n.406-13T=)
c.217-13T= (n.217-13T=)
c.283-13T= (n.283-13T=)
10g.80280329A>GCA594462552MAT1Ac.406-13T>C (n.406-13T>C)
c.217-13T>C (n.217-13T>C)
c.283-13T>C (n.283-13T>C)
 dbSNP gnomAD v2 gnomAD v4
10g.80280330G>ACA5576796MAT1Ac.406-14C>T (n.406-14C>T)
c.217-14C>T (n.217-14C>T)
c.283-14C>T (n.283-14C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.80280330G=CA1922577948MAT1Ac.406-14C= (n.406-14C=)
c.217-14C= (n.217-14C=)
c.283-14C= (n.283-14C=)
10g.80280331C=CA1922577949MAT1Ac.406-15G= (n.406-15G=)
c.217-15G= (n.217-15G=)
c.283-15G= (n.283-15G=)
10g.80280331C>GCA5576797MAT1Ac.406-15G>C (n.406-15G>C)
c.217-15G>C (n.217-15G>C)
c.283-15G>C (n.283-15G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280331C>TCA668888607MAT1Ac.406-15G>A (n.406-15G>A)
c.217-15G>A (n.217-15G>A)
c.283-15G>A (n.283-15G>A)
 dbSNP gnomAD v4
10g.80280332A>GCA2609913867MAT1Ac.406-16T>C (n.406-16T>C)
c.217-16T>C (n.217-16T>C)
c.283-16T>C (n.283-16T>C)
 gnomAD v4
10g.80280334G=CA1922577950MAT1Ac.406-18C= (n.406-18C=)
c.217-18C= (n.217-18C=)
c.283-18C= (n.283-18C=)
10g.80280334G>TCA594462558MAT1Ac.406-18C>A (n.406-18C>A)
c.217-18C>A (n.217-18C>A)
c.283-18C>A (n.283-18C>A)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched