Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.206144848T>CCA2662803860NDUFS1c.872+44A>G (n.872+44A>G)
c.701+44A>G (n.701+44A>G)
c.539+44A>G (n.539+44A>G)
c.764+44A>G (n.764+44A>G)
c.914+44A>G (n.914+44A>G)
c.524+44A>G (n.524+44A>G)
c.113+44A>G (n.113+44A>G)
 gnomAD v4
2g.206144849_206144853delinsTTAAACA2496487343NDUFS1c.872+39_872+43delinsTTTAA (n.872+39_872+43delinsTTTAA)
c.701+39_701+43delinsTTTAA (n.701+39_701+43delinsTTTAA)
c.539+39_539+43delinsTTTAA (n.539+39_539+43delinsTTTAA)
c.764+39_764+43delinsTTTAA (n.764+39_764+43delinsTTTAA)
c.914+39_914+43delinsTTTAA (n.914+39_914+43delinsTTTAA)
c.524+39_524+43delinsTTTAA (n.524+39_524+43delinsTTTAA)
c.113+39_113+43delinsTTTAA (n.113+39_113+43delinsTTTAA)
2g.206144854_206144857delCA539058081NDUFS1c.872+39_872+42del (n.872+39_872+42del)
c.701+39_701+42del (n.701+39_701+42del)
c.539+39_539+42del (n.539+39_539+42del)
c.764+39_764+42del (n.764+39_764+42del)
c.914+39_914+42del (n.914+39_914+42del)
c.524+39_524+42del (n.524+39_524+42del)
c.113+39_113+42del (n.113+39_113+42del)
 dbSNP gnomAD v2 gnomAD v4
2g.206144855A=CA2496487344NDUFS1c.872+37T= (n.872+37T=)
c.701+37T= (n.701+37T=)
c.539+37T= (n.539+37T=)
c.764+37T= (n.764+37T=)
c.914+37T= (n.914+37T=)
c.524+37T= (n.524+37T=)
c.113+37T= (n.113+37T=)
2g.206144855A>CCA2662803862NDUFS1c.872+37T>G (n.872+37T>G)
c.701+37T>G (n.701+37T>G)
c.539+37T>G (n.539+37T>G)
c.764+37T>G (n.764+37T>G)
c.914+37T>G (n.914+37T>G)
c.524+37T>G (n.524+37T>G)
c.113+37T>G (n.113+37T>G)
 gnomAD v4
2g.206144855A>GCA539058082NDUFS1c.872+37T>C (n.872+37T>C)
c.701+37T>C (n.701+37T>C)
c.539+37T>C (n.539+37T>C)
c.764+37T>C (n.764+37T>C)
c.914+37T>C (n.914+37T>C)
c.524+37T>C (n.524+37T>C)
c.113+37T>C (n.113+37T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.206144856A>CCA2662803863NDUFS1c.872+36T>G (n.872+36T>G)
c.701+36T>G (n.701+36T>G)
c.539+36T>G (n.539+36T>G)
c.764+36T>G (n.764+36T>G)
c.914+36T>G (n.914+36T>G)
c.524+36T>G (n.524+36T>G)
c.113+36T>G (n.113+36T>G)
 gnomAD v4
2g.206144858C>GCA2577222161NDUFS1c.872+34G>C (n.872+34G>C)
c.701+34G>C (n.701+34G>C)
c.539+34G>C (n.539+34G>C)
c.764+34G>C (n.764+34G>C)
c.914+34G>C (n.914+34G>C)
c.524+34G>C (n.524+34G>C)
c.113+34G>C (n.113+34G>C)
2g.206144858_206144860delinsCTGCA2496487345NDUFS1c.872+32_872+34delinsCAG (n.872+32_872+34delinsCAG)
c.701+32_701+34delinsCAG (n.701+32_701+34delinsCAG)
c.539+32_539+34delinsCAG (n.539+32_539+34delinsCAG)
c.764+32_764+34delinsCAG (n.764+32_764+34delinsCAG)
c.914+32_914+34delinsCAG (n.914+32_914+34delinsCAG)
c.524+32_524+34delinsCAG (n.524+32_524+34delinsCAG)
c.113+32_113+34delinsCAG (n.113+32_113+34delinsCAG)
2g.206144859T>CCA2070641NDUFS1c.872+33A>G (n.872+33A>G)
c.701+33A>G (n.701+33A>G)
c.539+33A>G (n.539+33A>G)
c.764+33A>G (n.764+33A>G)
c.914+33A>G (n.914+33A>G)
c.524+33A>G (n.524+33A>G)
c.113+33A>G (n.113+33A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.206144859T=CA2496487346NDUFS1c.872+33A= (n.872+33A=)
c.701+33A= (n.701+33A=)
c.539+33A= (n.539+33A=)
c.764+33A= (n.764+33A=)
c.914+33A= (n.914+33A=)
c.524+33A= (n.524+33A=)
c.113+33A= (n.113+33A=)
2g.206144860_206144861delCA2070640NDUFS1c.872+32_872+33del (n.872+32_872+33del)
c.701+32_701+33del (n.701+32_701+33del)
c.539+32_539+33del (n.539+32_539+33del)
c.764+32_764+33del (n.764+32_764+33del)
c.914+32_914+33del (n.914+32_914+33del)
c.524+32_524+33del (n.524+32_524+33del)
c.113+32_113+33del (n.113+32_113+33del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206144862A=CA2496487347NDUFS1c.872+30T= (n.872+30T=)
c.701+30T= (n.701+30T=)
c.539+30T= (n.539+30T=)
c.764+30T= (n.764+30T=)
c.914+30T= (n.914+30T=)
c.524+30T= (n.524+30T=)
c.113+30T= (n.113+30T=)
2g.206144862A>CCA539058083NDUFS1c.872+30T>G (n.872+30T>G)
c.701+30T>G (n.701+30T>G)
c.539+30T>G (n.539+30T>G)
c.764+30T>G (n.764+30T>G)
c.914+30T>G (n.914+30T>G)
c.524+30T>G (n.524+30T>G)
c.113+30T>G (n.113+30T>G)
 dbSNP gnomAD v2 gnomAD v4
2g.206144863A>GCA2662803868NDUFS1c.872+29T>C (n.872+29T>C)
c.701+29T>C (n.701+29T>C)
c.539+29T>C (n.539+29T>C)
c.764+29T>C (n.764+29T>C)
c.914+29T>C (n.914+29T>C)
c.524+29T>C (n.524+29T>C)
c.113+29T>C (n.113+29T>C)
 gnomAD v4
2g.206144867_206144871delCA2662803869NDUFS1c.872+24_872+28del (n.872+24_872+28del)
c.701+24_701+28del (n.701+24_701+28del)
c.539+24_539+28del (n.539+24_539+28del)
c.764+24_764+28del (n.764+24_764+28del)
c.914+24_914+28del (n.914+24_914+28del)
c.524+24_524+28del (n.524+24_524+28del)
c.113+24_113+28del (n.113+24_113+28del)
 gnomAD v4
2g.206144865A>GCA2662803870NDUFS1c.872+27T>C (n.872+27T>C)
c.701+27T>C (n.701+27T>C)
c.539+27T>C (n.539+27T>C)
c.764+27T>C (n.764+27T>C)
c.914+27T>C (n.914+27T>C)
c.524+27T>C (n.524+27T>C)
c.113+27T>C (n.113+27T>C)
 gnomAD v4
2g.206144866G>CCA2662803871NDUFS1c.872+26C>G (n.872+26C>G)
c.701+26C>G (n.701+26C>G)
c.539+26C>G (n.539+26C>G)
c.764+26C>G (n.764+26C>G)
c.914+26C>G (n.914+26C>G)
c.524+26C>G (n.524+26C>G)
c.113+26C>G (n.113+26C>G)
 gnomAD v4
2g.206144868T>CCA2496487349NDUFS1c.872+24A>G (n.872+24A>G)
c.701+24A>G (n.701+24A>G)
c.539+24A>G (n.539+24A>G)
c.764+24A>G (n.764+24A>G)
c.914+24A>G (n.914+24A>G)
c.524+24A>G (n.524+24A>G)
c.113+24A>G (n.113+24A>G)
 dbSNP gnomAD v4
2g.206144868T>GCA2496487350NDUFS1c.872+24A>C (n.872+24A>C)
c.701+24A>C (n.701+24A>C)
c.539+24A>C (n.539+24A>C)
c.764+24A>C (n.764+24A>C)
c.914+24A>C (n.914+24A>C)
c.524+24A>C (n.524+24A>C)
c.113+24A>C (n.113+24A>C)
 dbSNP
2g.206144868T=CA2496487348NDUFS1c.872+24A= (n.872+24A=)
c.701+24A= (n.701+24A=)
c.539+24A= (n.539+24A=)
c.764+24A= (n.764+24A=)
c.914+24A= (n.914+24A=)
c.524+24A= (n.524+24A=)
c.113+24A= (n.113+24A=)
2g.206144869A>TCA2662803872NDUFS1c.872+23T>A (n.872+23T>A)
c.701+23T>A (n.701+23T>A)
c.539+23T>A (n.539+23T>A)
c.764+23T>A (n.764+23T>A)
c.914+23T>A (n.914+23T>A)
c.524+23T>A (n.524+23T>A)
c.113+23T>A (n.113+23T>A)
 gnomAD v4
2g.206144871G>ACA2577222162NDUFS1c.872+21C>T (n.872+21C>T)
c.701+21C>T (n.701+21C>T)
c.539+21C>T (n.539+21C>T)
c.764+21C>T (n.764+21C>T)
c.914+21C>T (n.914+21C>T)
c.524+21C>T (n.524+21C>T)
c.113+21C>T (n.113+21C>T)
2g.206144871G>CCA2753997162NDUFS1c.872+21C>G (n.872+21C>G)
c.701+21C>G (n.701+21C>G)
c.539+21C>G (n.539+21C>G)
c.764+21C>G (n.764+21C>G)
c.914+21C>G (n.914+21C>G)
c.524+21C>G (n.524+21C>G)
c.113+21C>G (n.113+21C>G)
2g.206144875_206144876insTTTTATAATAATTTTGCA2554780692NDUFS1c.872+16_872+17insCAAAATTATTATAAAA (n.872+16_872+17insCAAAATTATTATAAAA)
c.701+16_701+17insCAAAATTATTATAAAA (n.701+16_701+17insCAAAATTATTATAAAA)
c.539+16_539+17insCAAAATTATTATAAAA (n.539+16_539+17insCAAAATTATTATAAAA)
c.764+16_764+17insCAAAATTATTATAAAA (n.764+16_764+17insCAAAATTATTATAAAA)
c.914+16_914+17insCAAAATTATTATAAAA (n.914+16_914+17insCAAAATTATTATAAAA)
c.524+16_524+17insCAAAATTATTATAAAA (n.524+16_524+17insCAAAATTATTATAAAA)
c.113+16_113+17insCAAAATTATTATAAAA (n.113+16_113+17insCAAAATTATTATAAAA)
2g.206144877C=CA2496487351NDUFS1c.872+15G= (n.872+15G=)
c.701+15G= (n.701+15G=)
c.539+15G= (n.539+15G=)
c.764+15G= (n.764+15G=)
c.914+15G= (n.914+15G=)
c.524+15G= (n.524+15G=)
c.113+15G= (n.113+15G=)
2g.206144877C>TCA539058084NDUFS1c.872+15G>A (n.872+15G>A)
c.701+15G>A (n.701+15G>A)
c.539+15G>A (n.539+15G>A)
c.764+15G>A (n.764+15G>A)
c.914+15G>A (n.914+15G>A)
c.524+15G>A (n.524+15G>A)
c.113+15G>A (n.113+15G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.206144879A>GCA2577222166NDUFS1c.872+13T>C (n.872+13T>C)
c.701+13T>C (n.701+13T>C)
c.539+13T>C (n.539+13T>C)
c.764+13T>C (n.764+13T>C)
c.914+13T>C (n.914+13T>C)
c.524+13T>C (n.524+13T>C)
c.113+13T>C (n.113+13T>C)
2g.206144882_206144883delCA2577222165NDUFS1c.872+12_872+13del (n.872+12_872+13del)
c.701+12_701+13del (n.701+12_701+13del)
c.539+12_539+13del (n.539+12_539+13del)
c.764+12_764+13del (n.764+12_764+13del)
c.914+12_914+13del (n.914+12_914+13del)
c.524+12_524+13del (n.524+12_524+13del)
c.113+12_113+13del (n.113+12_113+13del)
2g.206144880T>CCA2070642NDUFS1c.872+12A>G (n.872+12A>G)
c.701+12A>G (n.701+12A>G)
c.539+12A>G (n.539+12A>G)
c.764+12A>G (n.764+12A>G)
c.914+12A>G (n.914+12A>G)
c.524+12A>G (n.524+12A>G)
c.113+12A>G (n.113+12A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.206144880T>GCA2740362030NDUFS1c.872+12A>C (n.872+12A>C)
c.701+12A>C (n.701+12A>C)
c.539+12A>C (n.539+12A>C)
c.764+12A>C (n.764+12A>C)
c.914+12A>C (n.914+12A>C)
c.524+12A>C (n.524+12A>C)
c.113+12A>C (n.113+12A>C)
2g.206144880T=CA2496487352NDUFS1c.872+12A= (n.872+12A=)
c.701+12A= (n.701+12A=)
c.539+12A= (n.539+12A=)
c.764+12A= (n.764+12A=)
c.914+12A= (n.914+12A=)
c.524+12A= (n.524+12A=)
c.113+12A= (n.113+12A=)
2g.206144881A=CA2496487353NDUFS1c.872+11T= (n.872+11T=)
c.701+11T= (n.701+11T=)
c.539+11T= (n.539+11T=)
c.764+11T= (n.764+11T=)
c.914+11T= (n.914+11T=)
c.524+11T= (n.524+11T=)
c.113+11T= (n.113+11T=)
2g.206144881A>GCA2496487354NDUFS1c.872+11T>C (n.872+11T>C)
c.701+11T>C (n.701+11T>C)
c.539+11T>C (n.539+11T>C)
c.764+11T>C (n.764+11T>C)
c.914+11T>C (n.914+11T>C)
c.524+11T>C (n.524+11T>C)
c.113+11T>C (n.113+11T>C)
 dbSNP gnomAD v4
2g.206144882T>ACA2070643NDUFS1c.872+10A>T (n.872+10A>T)
c.701+10A>T (n.701+10A>T)
c.539+10A>T (n.539+10A>T)
c.764+10A>T (n.764+10A>T)
c.914+10A>T (n.914+10A>T)
c.524+10A>T (n.524+10A>T)
c.113+10A>T (n.113+10A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206144882T>CCA763755849NDUFS1c.872+10A>G (n.872+10A>G)
c.701+10A>G (n.701+10A>G)
c.539+10A>G (n.539+10A>G)
c.764+10A>G (n.764+10A>G)
c.914+10A>G (n.914+10A>G)
c.524+10A>G (n.524+10A>G)
c.113+10A>G (n.113+10A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.206144882T=CA2496487355NDUFS1c.872+10A= (n.872+10A=)
c.701+10A= (n.701+10A=)
c.539+10A= (n.539+10A=)
c.764+10A= (n.764+10A=)
c.914+10A= (n.914+10A=)
c.524+10A= (n.524+10A=)
c.113+10A= (n.113+10A=)
2g.206144884G>ACA2662803877NDUFS1c.872+8C>T (n.872+8C>T)
c.701+8C>T (n.701+8C>T)
c.539+8C>T (n.539+8C>T)
c.764+8C>T (n.764+8C>T)
c.914+8C>T (n.914+8C>T)
c.524+8C>T (n.524+8C>T)
c.113+8C>T (n.113+8C>T)
 gnomAD v4
2g.206144885C=CA2496487356NDUFS1c.872+7G= (n.872+7G=)
c.701+7G= (n.701+7G=)
c.539+7G= (n.539+7G=)
c.764+7G= (n.764+7G=)
c.914+7G= (n.914+7G=)
c.524+7G= (n.524+7G=)
c.113+7G= (n.113+7G=)
2g.206144885C>TCA63664997NDUFS1c.872+7G>A (n.872+7G>A)
c.701+7G>A (n.701+7G>A)
c.539+7G>A (n.539+7G>A)
c.764+7G>A (n.764+7G>A)
c.914+7G>A (n.914+7G>A)
c.524+7G>A (n.524+7G>A)
c.113+7G>A (n.113+7G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.206144886A=CA2496487357NDUFS1c.872+6T= (n.872+6T=)
c.701+6T= (n.701+6T=)
c.539+6T= (n.539+6T=)
c.764+6T= (n.764+6T=)
c.914+6T= (n.914+6T=)
c.524+6T= (n.524+6T=)
c.113+6T= (n.113+6T=)
2g.206144886A>GCA539058085NDUFS1c.872+6T>C (n.872+6T>C)
c.701+6T>C (n.701+6T>C)
c.539+6T>C (n.539+6T>C)
c.764+6T>C (n.764+6T>C)
c.914+6T>C (n.914+6T>C)
c.524+6T>C (n.524+6T>C)
c.113+6T>C (n.113+6T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.206144887T>CCA2070644NDUFS1c.872+5A>G (n.872+5A>G)
c.701+5A>G (n.701+5A>G)
c.539+5A>G (n.539+5A>G)
c.764+5A>G (n.764+5A>G)
c.914+5A>G (n.914+5A>G)
c.524+5A>G (n.524+5A>G)
c.113+5A>G (n.113+5A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206144887T=CA2496487358NDUFS1c.872+5A= (n.872+5A=)
c.701+5A= (n.701+5A=)
c.539+5A= (n.539+5A=)
c.764+5A= (n.764+5A=)
c.914+5A= (n.914+5A=)
c.524+5A= (n.524+5A=)
c.113+5A= (n.113+5A=)
2g.206144889T>CCA763755860NDUFS1c.872+3A>G (n.872+3A>G)
c.701+3A>G (n.701+3A>G)
c.539+3A>G (n.539+3A>G)
c.764+3A>G (n.764+3A>G)
c.914+3A>G (n.914+3A>G)
c.524+3A>G (n.524+3A>G)
c.113+3A>G (n.113+3A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.206144889T=CA2496487359NDUFS1c.872+3A= (n.872+3A=)
c.701+3A= (n.701+3A=)
c.539+3A= (n.539+3A=)
c.764+3A= (n.764+3A=)
c.914+3A= (n.914+3A=)
c.524+3A= (n.524+3A=)
c.113+3A= (n.113+3A=)
2g.206144890A>CCA350056200NDUFS1c.872+2T>G (n.872+2T>G)
c.701+2T>G (n.701+2T>G)
c.539+2T>G (n.539+2T>G)
c.764+2T>G (n.764+2T>G)
c.914+2T>G (n.914+2T>G)
c.524+2T>G (n.524+2T>G)
c.113+2T>G (n.113+2T>G)
2g.206144890A>GCA350056208NDUFS1c.872+2T>C (n.872+2T>C)
c.701+2T>C (n.701+2T>C)
c.539+2T>C (n.539+2T>C)
c.764+2T>C (n.764+2T>C)
c.914+2T>C (n.914+2T>C)
c.524+2T>C (n.524+2T>C)
c.113+2T>C (n.113+2T>C)
2g.206144890A>TCA350056211NDUFS1c.872+2T>A (n.872+2T>A)
c.701+2T>A (n.701+2T>A)
c.539+2T>A (n.539+2T>A)
c.764+2T>A (n.764+2T>A)
c.914+2T>A (n.914+2T>A)
c.524+2T>A (n.524+2T>A)
c.113+2T>A (n.113+2T>A)
2g.206144891C>ACA350056215NDUFS1c.872+1G>T (n.872+1G>T)
c.701+1G>T (n.701+1G>T)
c.539+1G>T (n.539+1G>T)
c.764+1G>T (n.764+1G>T)
c.914+1G>T (n.914+1G>T)
c.524+1G>T (n.524+1G>T)
c.113+1G>T (n.113+1G>T)
2g.206144891C>GCA350056222NDUFS1c.872+1G>C (n.872+1G>C)
c.701+1G>C (n.701+1G>C)
c.539+1G>C (n.539+1G>C)
c.764+1G>C (n.764+1G>C)
c.914+1G>C (n.914+1G>C)
c.524+1G>C (n.524+1G>C)
c.113+1G>C (n.113+1G>C)
2g.206144891C>TCA350056224NDUFS1c.872+1G>A (n.872+1G>A)
c.701+1G>A (n.701+1G>A)
c.539+1G>A (n.539+1G>A)
c.764+1G>A (n.764+1G>A)
c.914+1G>A (n.914+1G>A)
c.524+1G>A (n.524+1G>A)
c.113+1G>A (n.113+1G>A)
2g.206144892C>ACA350056229NDUFS1c.872G>T (p.Arg291Ile)
c.701G>T (p.Arg234Ile)
c.539G>T (p.Arg180Ile)
c.764G>T (p.Arg255Ile)
c.914G>T (p.Arg305Ile)
c.524G>T (p.Arg175Ile)
c.113G>T (p.Arg38Ile)
2g.206144892C>GCA350056237NDUFS1c.872G>C (p.Arg291Thr)
c.701G>C (p.Arg234Thr)
c.539G>C (p.Arg180Thr)
c.764G>C (p.Arg255Thr)
c.914G>C (p.Arg305Thr)
c.524G>C (p.Arg175Thr)
c.113G>C (p.Arg38Thr)
 gnomAD v4
2g.206144892C>TCA350056240NDUFS1c.872G>A (p.Arg291Lys)
c.701G>A (p.Arg234Lys)
c.539G>A (p.Arg180Lys)
c.764G>A (p.Arg255Lys)
c.914G>A (p.Arg305Lys)
c.524G>A (p.Arg175Lys)
c.113G>A (p.Arg38Lys)
 gnomAD v4
2g.206144893T>ACA350056248NDUFS1c.871A>T (p.Arg291Ter)
c.700A>T (p.Arg234Ter)
c.538A>T (p.Arg180Ter)
c.763A>T (p.Arg255Ter)
c.913A>T (p.Arg305Ter)
c.523A>T (p.Arg175Ter)
c.112A>T (p.Arg38Ter)
 dbSNP
2g.206144893T>CCA350056246NDUFS1c.871A>G (p.Arg291Gly)
c.700A>G (p.Arg234Gly)
c.538A>G (p.Arg180Gly)
c.763A>G (p.Arg255Gly)
c.913A>G (p.Arg305Gly)
c.523A>G (p.Arg175Gly)
c.112A>G (p.Arg38Gly)
2g.206144893T>GCA430951444NDUFS1c.871A>C (p.Arg291=)
c.700A>C (p.Arg234=)
c.538A>C (p.Arg180=)
c.763A>C (p.Arg255=)
c.913A>C (p.Arg305=)
c.523A>C (p.Arg175=)
c.112A>C (p.Arg38=)
2g.206144894G>ACA430951447NDUFS1c.870C>T (p.Thr290=)
c.699C>T (p.Thr233=)
c.537C>T (p.Thr179=)
c.762C>T (p.Thr254=)
c.912C>T (p.Thr304=)
c.522C>T (p.Thr174=)
c.111C>T (p.Thr37=)
2g.206144894G>CCA430951450NDUFS1c.870C>G (p.Thr290=)
c.699C>G (p.Thr233=)
c.537C>G (p.Thr179=)
c.762C>G (p.Thr254=)
c.912C>G (p.Thr304=)
c.522C>G (p.Thr174=)
c.111C>G (p.Thr37=)
2g.206144894G=CA2496487360NDUFS1c.870C= (p.Thr290=)
c.699C= (p.Thr233=)
c.537C= (p.Thr179=)
c.762C= (p.Thr254=)
c.912C= (p.Thr304=)
c.522C= (p.Thr174=)
c.111C= (p.Thr37=)
2g.206144894G>TCA2070645NDUFS1c.870C>A (p.Thr290=)
c.699C>A (p.Thr233=)
c.537C>A (p.Thr179=)
c.762C>A (p.Thr254=)
c.912C>A (p.Thr304=)
c.522C>A (p.Thr174=)
c.111C>A (p.Thr37=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.206144895G>ACA350056252NDUFS1c.869C>T (p.Thr290Ile)
c.698C>T (p.Thr233Ile)
c.536C>T (p.Thr179Ile)
c.761C>T (p.Thr254Ile)
c.911C>T (p.Thr304Ile)
c.521C>T (p.Thr174Ile)
c.110C>T (p.Thr37Ile)
 gnomAD v4
2g.206144895G>CCA350056254NDUFS1c.869C>G (p.Thr290Ser)
c.698C>G (p.Thr233Ser)
c.536C>G (p.Thr179Ser)
c.761C>G (p.Thr254Ser)
c.911C>G (p.Thr304Ser)
c.521C>G (p.Thr174Ser)
c.110C>G (p.Thr37Ser)
2g.206144895G>TCA350056256NDUFS1c.869C>A (p.Thr290Asn)
c.698C>A (p.Thr233Asn)
c.536C>A (p.Thr179Asn)
c.761C>A (p.Thr254Asn)
c.911C>A (p.Thr304Asn)
c.521C>A (p.Thr174Asn)
c.110C>A (p.Thr37Asn)
2g.206144896T>ACA350056260NDUFS1c.868A>T (p.Thr290Ser)
c.697A>T (p.Thr233Ser)
c.535A>T (p.Thr179Ser)
c.760A>T (p.Thr254Ser)
c.910A>T (p.Thr304Ser)
c.520A>T (p.Thr174Ser)
c.109A>T (p.Thr37Ser)
2g.206144896T>CCA350056263NDUFS1c.868A>G (p.Thr290Ala)
c.697A>G (p.Thr233Ala)
c.535A>G (p.Thr179Ala)
c.760A>G (p.Thr254Ala)
c.910A>G (p.Thr304Ala)
c.520A>G (p.Thr174Ala)
c.109A>G (p.Thr37Ala)
2g.206144896T>GCA350056269NDUFS1c.868A>C (p.Thr290Pro)
c.697A>C (p.Thr233Pro)
c.535A>C (p.Thr179Pro)
c.760A>C (p.Thr254Pro)
c.910A>C (p.Thr304Pro)
c.520A>C (p.Thr174Pro)
c.109A>C (p.Thr37Pro)
2g.206144899dupCA2662803880NDUFS1c.868dup (p.Thr290AsnfsTer6)
c.697dup (p.Thr233AsnfsTer6)
c.535dup (p.Thr179AsnfsTer6)
c.760dup (p.Thr254AsnfsTer6)
c.910dup (p.Thr304AsnfsTer6)
c.520dup (p.Thr174AsnfsTer6)
c.109dup (p.Thr37AsnfsTer6)
 gnomAD v4
2g.206144899delCA2577222169NDUFS1c.868del (p.Thr290ProfsTer8)
c.697del (p.Thr233ProfsTer8)
c.535del (p.Thr179ProfsTer8)
c.760del (p.Thr254ProfsTer8)
c.910del (p.Thr304ProfsTer8)
c.520del (p.Thr174ProfsTer8)
c.109del (p.Thr37ProfsTer8)
2g.206144897T>ACA350056272NDUFS1c.867A>T (p.Lys289Asn)
c.696A>T (p.Lys232Asn)
c.534A>T (p.Lys178Asn)
c.759A>T (p.Lys253Asn)
c.909A>T (p.Lys303Asn)
c.519A>T (p.Lys173Asn)
c.108A>T (p.Lys36Asn)
2g.206144897T>CCA430951453NDUFS1c.867A>G (p.Lys289=)
c.696A>G (p.Lys232=)
c.534A>G (p.Lys178=)
c.759A>G (p.Lys253=)
c.909A>G (p.Lys303=)
c.519A>G (p.Lys173=)
c.108A>G (p.Lys36=)
 gnomAD v4
2g.206144897T>GCA350056279NDUFS1c.867A>C (p.Lys289Asn)
c.696A>C (p.Lys232Asn)
c.534A>C (p.Lys178Asn)
c.759A>C (p.Lys253Asn)
c.909A>C (p.Lys303Asn)
c.519A>C (p.Lys173Asn)
c.108A>C (p.Lys36Asn)
2g.206144898T>ACA350056289NDUFS1c.866A>T (p.Lys289Ile)
c.695A>T (p.Lys232Ile)
c.533A>T (p.Lys178Ile)
c.758A>T (p.Lys253Ile)
c.908A>T (p.Lys303Ile)
c.518A>T (p.Lys173Ile)
c.107A>T (p.Lys36Ile)
2g.206144898T>CCA350056294NDUFS1c.866A>G (p.Lys289Arg)
c.695A>G (p.Lys232Arg)
c.533A>G (p.Lys178Arg)
c.758A>G (p.Lys253Arg)
c.908A>G (p.Lys303Arg)
c.518A>G (p.Lys173Arg)
c.107A>G (p.Lys36Arg)
2g.206144898T>GCA350056307NDUFS1c.866A>C (p.Lys289Thr)
c.695A>C (p.Lys232Thr)
c.533A>C (p.Lys178Thr)
c.758A>C (p.Lys253Thr)
c.908A>C (p.Lys303Thr)
c.518A>C (p.Lys173Thr)
c.107A>C (p.Lys36Thr)
2g.206144899T>ACA350056866NDUFS1c.865A>T (p.Lys289Ter)
c.694A>T (p.Lys232Ter)
c.532A>T (p.Lys178Ter)
c.757A>T (p.Lys253Ter)
c.907A>T (p.Lys303Ter)
c.517A>T (p.Lys173Ter)
c.106A>T (p.Lys36Ter)
2g.206144899T>CCA350056871NDUFS1c.865A>G (p.Lys289Glu)
c.694A>G (p.Lys232Glu)
c.532A>G (p.Lys178Glu)
c.757A>G (p.Lys253Glu)
c.907A>G (p.Lys303Glu)
c.517A>G (p.Lys173Glu)
c.106A>G (p.Lys36Glu)
2g.206144899T>GCA350056877NDUFS1c.865A>C (p.Lys289Gln)
c.694A>C (p.Lys232Gln)
c.532A>C (p.Lys178Gln)
c.757A>C (p.Lys253Gln)
c.907A>C (p.Lys303Gln)
c.517A>C (p.Lys173Gln)
c.106A>C (p.Lys36Gln)
2g.206144900A=CA2496487361NDUFS1c.864T= (p.Asp288=)
c.693T= (p.Asp231=)
c.531T= (p.Asp177=)
c.756T= (p.Asp252=)
c.906T= (p.Asp302=)
c.516T= (p.Asp172=)
c.105T= (p.Asp35=)
2g.206144900A>CCA350056881NDUFS1c.864T>G (p.Asp288Glu)
c.693T>G (p.Asp231Glu)
c.531T>G (p.Asp177Glu)
c.756T>G (p.Asp252Glu)
c.906T>G (p.Asp302Glu)
c.516T>G (p.Asp172Glu)
c.105T>G (p.Asp35Glu)
 dbSNP
2g.206144900A>GCA430952383NDUFS1c.864T>C (p.Asp288=)
c.693T>C (p.Asp231=)
c.531T>C (p.Asp177=)
c.756T>C (p.Asp252=)
c.906T>C (p.Asp302=)
c.516T>C (p.Asp172=)
c.105T>C (p.Asp35=)
2g.206144900A>TCA350056883NDUFS1c.864T>A (p.Asp288Glu)
c.693T>A (p.Asp231Glu)
c.531T>A (p.Asp177Glu)
c.756T>A (p.Asp252Glu)
c.906T>A (p.Asp302Glu)
c.516T>A (p.Asp172Glu)
c.105T>A (p.Asp35Glu)
2g.206144901T>ACA350056887NDUFS1c.863A>T (p.Asp288Val)
c.692A>T (p.Asp231Val)
c.530A>T (p.Asp177Val)
c.755A>T (p.Asp252Val)
c.905A>T (p.Asp302Val)
c.515A>T (p.Asp172Val)
c.104A>T (p.Asp35Val)
2g.206144901T>CCA350056895NDUFS1c.863A>G (p.Asp288Gly)
c.692A>G (p.Asp231Gly)
c.530A>G (p.Asp177Gly)
c.755A>G (p.Asp252Gly)
c.905A>G (p.Asp302Gly)
c.515A>G (p.Asp172Gly)
c.104A>G (p.Asp35Gly)
2g.206144901T>GCA350056898NDUFS1c.863A>C (p.Asp288Ala)
c.692A>C (p.Asp231Ala)
c.530A>C (p.Asp177Ala)
c.755A>C (p.Asp252Ala)
c.905A>C (p.Asp302Ala)
c.515A>C (p.Asp172Ala)
c.104A>C (p.Asp35Ala)
2g.206144902C>ACA350056900NDUFS1c.862G>T (p.Asp288Tyr)
c.691G>T (p.Asp231Tyr)
c.529G>T (p.Asp177Tyr)
c.754G>T (p.Asp252Tyr)
c.904G>T (p.Asp302Tyr)
c.514G>T (p.Asp172Tyr)
c.103G>T (p.Asp35Tyr)
2g.206144902C=CA2496487362NDUFS1c.862G= (p.Asp288=)
c.691G= (p.Asp231=)
c.529G= (p.Asp177=)
c.754G= (p.Asp252=)
c.904G= (p.Asp302=)
c.514G= (p.Asp172=)
c.103G= (p.Asp35=)
2g.206144902C>GCA350056903NDUFS1c.862G>C (p.Asp288His)
c.691G>C (p.Asp231His)
c.529G>C (p.Asp177His)
c.754G>C (p.Asp252His)
c.904G>C (p.Asp302His)
c.514G>C (p.Asp172His)
c.103G>C (p.Asp35His)
 dbSNP
2g.206144902C>TCA350056906NDUFS1c.862G>A (p.Asp288Asn)
c.691G>A (p.Asp231Asn)
c.529G>A (p.Asp177Asn)
c.754G>A (p.Asp252Asn)
c.904G>A (p.Asp302Asn)
c.514G>A (p.Asp172Asn)
c.103G>A (p.Asp35Asn)
 COSMIC COSMIC
2g.206144903A>CCA430952411NDUFS1c.861T>G (p.Ser287=)
c.690T>G (p.Ser230=)
c.528T>G (p.Ser176=)
c.753T>G (p.Ser251=)
c.903T>G (p.Ser301=)
c.513T>G (p.Ser171=)
c.102T>G (p.Ser34=)
2g.206144903A>GCA430952413NDUFS1c.861T>C (p.Ser287=)
c.690T>C (p.Ser230=)
c.528T>C (p.Ser176=)
c.753T>C (p.Ser251=)
c.903T>C (p.Ser301=)
c.513T>C (p.Ser171=)
c.102T>C (p.Ser34=)
2g.206144903A>TCA430952416NDUFS1c.861T>A (p.Ser287=)
c.690T>A (p.Ser230=)
c.528T>A (p.Ser176=)
c.753T>A (p.Ser251=)
c.903T>A (p.Ser301=)
c.513T>A (p.Ser171=)
c.102T>A (p.Ser34=)
2g.206144904G>ACA350056912NDUFS1c.860C>T (p.Ser287Phe)
c.689C>T (p.Ser230Phe)
c.527C>T (p.Ser176Phe)
c.752C>T (p.Ser251Phe)
c.902C>T (p.Ser301Phe)
c.512C>T (p.Ser171Phe)
c.101C>T (p.Ser34Phe)
2g.206144904G>CCA325322NDUFS1c.860C>G (p.Ser287Cys)
c.689C>G (p.Ser230Cys)
c.527C>G (p.Ser176Cys)
c.752C>G (p.Ser251Cys)
c.902C>G (p.Ser301Cys)
c.512C>G (p.Ser171Cys)
c.101C>G (p.Ser34Cys)
 dbSNP gnomAD v4
2g.206144904G=CA2496487363NDUFS1c.860C= (p.Ser287=)
c.689C= (p.Ser230=)
c.527C= (p.Ser176=)
c.752C= (p.Ser251=)
c.902C= (p.Ser301=)
c.512C= (p.Ser171=)
c.101C= (p.Ser34=)
2g.206144904G>TCA350056918NDUFS1c.860C>A (p.Ser287Tyr)
c.689C>A (p.Ser230Tyr)
c.527C>A (p.Ser176Tyr)
c.752C>A (p.Ser251Tyr)
c.902C>A (p.Ser301Tyr)
c.512C>A (p.Ser171Tyr)
c.101C>A (p.Ser34Tyr)
2g.206144905A>CCA350056924NDUFS1c.859T>G (p.Ser287Ala)
c.688T>G (p.Ser230Ala)
c.526T>G (p.Ser176Ala)
c.751T>G (p.Ser251Ala)
c.901T>G (p.Ser301Ala)
c.511T>G (p.Ser171Ala)
c.100T>G (p.Ser34Ala)
2g.206144905A>GCA350056926NDUFS1c.859T>C (p.Ser287Pro)
c.688T>C (p.Ser230Pro)
c.526T>C (p.Ser176Pro)
c.751T>C (p.Ser251Pro)
c.901T>C (p.Ser301Pro)
c.511T>C (p.Ser171Pro)
c.100T>C (p.Ser34Pro)
2g.206144905A>TCA350056929NDUFS1c.859T>A (p.Ser287Thr)
c.688T>A (p.Ser230Thr)
c.526T>A (p.Ser176Thr)
c.751T>A (p.Ser251Thr)
c.901T>A (p.Ser301Thr)
c.511T>A (p.Ser171Thr)
c.100T>A (p.Ser34Thr)
2g.206144906G>ACA430952431NDUFS1c.858C>T (p.Ile286=)
c.687C>T (p.Ile229=)
c.525C>T (p.Ile175=)
c.750C>T (p.Ile250=)
c.900C>T (p.Ile300=)
c.510C>T (p.Ile170=)
c.99C>T (p.Ile33=)
 gnomAD v4
2g.206144906G>CCA350056932NDUFS1c.858C>G (p.Ile286Met)
c.687C>G (p.Ile229Met)
c.525C>G (p.Ile175Met)
c.750C>G (p.Ile250Met)
c.900C>G (p.Ile300Met)
c.510C>G (p.Ile170Met)
c.99C>G (p.Ile33Met)
2g.206144906G>TCA430952435NDUFS1c.858C>A (p.Ile286=)
c.687C>A (p.Ile229=)
c.525C>A (p.Ile175=)
c.750C>A (p.Ile250=)
c.900C>A (p.Ile300=)
c.510C>A (p.Ile170=)
c.99C>A (p.Ile33=)
2g.206144907A>CCA350056933NDUFS1c.857T>G (p.Ile286Ser)
c.686T>G (p.Ile229Ser)
c.524T>G (p.Ile175Ser)
c.749T>G (p.Ile250Ser)
c.899T>G (p.Ile300Ser)
c.509T>G (p.Ile170Ser)
c.98T>G (p.Ile33Ser)
2g.206144907A>GCA350056935NDUFS1c.857T>C (p.Ile286Thr)
c.686T>C (p.Ile229Thr)
c.524T>C (p.Ile175Thr)
c.749T>C (p.Ile250Thr)
c.899T>C (p.Ile300Thr)
c.509T>C (p.Ile170Thr)
c.98T>C (p.Ile33Thr)
 gnomAD v4
2g.206144907A>TCA350056934NDUFS1c.857T>A (p.Ile286Asn)
c.686T>A (p.Ile229Asn)
c.524T>A (p.Ile175Asn)
c.749T>A (p.Ile250Asn)
c.899T>A (p.Ile300Asn)
c.509T>A (p.Ile170Asn)
c.98T>A (p.Ile33Asn)
2g.206144908T>ACA350056940NDUFS1c.856A>T (p.Ile286Phe)
c.685A>T (p.Ile229Phe)
c.523A>T (p.Ile175Phe)
c.748A>T (p.Ile250Phe)
c.898A>T (p.Ile300Phe)
c.508A>T (p.Ile170Phe)
c.97A>T (p.Ile33Phe)
2g.206144908T>CCA350056945NDUFS1c.856A>G (p.Ile286Val)
c.685A>G (p.Ile229Val)
c.523A>G (p.Ile175Val)
c.748A>G (p.Ile250Val)
c.898A>G (p.Ile300Val)
c.508A>G (p.Ile170Val)
c.97A>G (p.Ile33Val)
 gnomAD v4
2g.206144908T>GCA350056943NDUFS1c.856A>C (p.Ile286Leu)
c.685A>C (p.Ile229Leu)
c.523A>C (p.Ile175Leu)
c.748A>C (p.Ile250Leu)
c.898A>C (p.Ile300Leu)
c.508A>C (p.Ile170Leu)
c.97A>C (p.Ile33Leu)
2g.206144909C>ACA350056949NDUFS1c.855G>T (p.Trp285Cys)
c.684G>T (p.Trp228Cys)
c.522G>T (p.Trp174Cys)
c.747G>T (p.Trp249Cys)
c.897G>T (p.Trp299Cys)
c.507G>T (p.Trp169Cys)
c.96G>T (p.Trp32Cys)
2g.206144909C>GCA350056955NDUFS1c.855G>C (p.Trp285Cys)
c.684G>C (p.Trp228Cys)
c.522G>C (p.Trp174Cys)
c.747G>C (p.Trp249Cys)
c.897G>C (p.Trp299Cys)
c.507G>C (p.Trp169Cys)
c.96G>C (p.Trp32Cys)
2g.206144909C>TCA350056963NDUFS1c.855G>A (p.Trp285Ter)
c.684G>A (p.Trp228Ter)
c.522G>A (p.Trp174Ter)
c.747G>A (p.Trp249Ter)
c.897G>A (p.Trp299Ter)
c.507G>A (p.Trp169Ter)
c.96G>A (p.Trp32Ter)
2g.206144909_206144910delCA2662803882NDUFS1c.854_855del (p.Trp285TyrfsTer3)
c.683_684del (p.Trp228TyrfsTer3)
c.521_522del (p.Trp174TyrfsTer3)
c.746_747del (p.Trp249TyrfsTer3)
c.896_897del (p.Trp299TyrfsTer3)
c.506_507del (p.Trp169TyrfsTer3)
c.95_96del (p.Trp32TyrfsTer3)
 gnomAD v4
2g.206144910C>ACA350056966NDUFS1c.854G>T (p.Trp285Leu)
c.683G>T (p.Trp228Leu)
c.521G>T (p.Trp174Leu)
c.746G>T (p.Trp249Leu)
c.896G>T (p.Trp299Leu)
c.506G>T (p.Trp169Leu)
c.95G>T (p.Trp32Leu)
 COSMIC
2g.206144910C>GCA350056969NDUFS1c.854G>C (p.Trp285Ser)
c.683G>C (p.Trp228Ser)
c.521G>C (p.Trp174Ser)
c.746G>C (p.Trp249Ser)
c.896G>C (p.Trp299Ser)
c.506G>C (p.Trp169Ser)
c.95G>C (p.Trp32Ser)
2g.206144910C>TCA350056971NDUFS1c.854G>A (p.Trp285Ter)
c.683G>A (p.Trp228Ter)
c.521G>A (p.Trp174Ter)
c.746G>A (p.Trp249Ter)
c.896G>A (p.Trp299Ter)
c.506G>A (p.Trp169Ter)
c.95G>A (p.Trp32Ter)
2g.206144911A>CCA350056974NDUFS1c.853T>G (p.Trp285Gly)
c.682T>G (p.Trp228Gly)
c.520T>G (p.Trp174Gly)
c.745T>G (p.Trp249Gly)
c.895T>G (p.Trp299Gly)
c.505T>G (p.Trp169Gly)
c.94T>G (p.Trp32Gly)
2g.206144911A>GCA350056976NDUFS1c.853T>C (p.Trp285Arg)
c.682T>C (p.Trp228Arg)
c.520T>C (p.Trp174Arg)
c.745T>C (p.Trp249Arg)
c.895T>C (p.Trp299Arg)
c.505T>C (p.Trp169Arg)
c.94T>C (p.Trp32Arg)
2g.206144911A>TCA350056979NDUFS1c.853T>A (p.Trp285Arg)
c.682T>A (p.Trp228Arg)
c.520T>A (p.Trp174Arg)
c.745T>A (p.Trp249Arg)
c.895T>A (p.Trp299Arg)
c.505T>A (p.Trp169Arg)
c.94T>A (p.Trp32Arg)
2g.206144912delCA2662803883NDUFS1c.852del (p.Glu284AspfsTer14)
c.681del (p.Glu227AspfsTer14)
c.519del (p.Glu173AspfsTer14)
c.744del (p.Glu248AspfsTer14)
c.894del (p.Glu298AspfsTer14)
c.504del (p.Glu168AspfsTer14)
c.93del (p.Glu31AspfsTer14)
 gnomAD v4
2g.206144912C>ACA350056983NDUFS1c.852G>T (p.Glu284Asp)
c.681G>T (p.Glu227Asp)
c.519G>T (p.Glu173Asp)
c.744G>T (p.Glu248Asp)
c.894G>T (p.Glu298Asp)
c.504G>T (p.Glu168Asp)
c.93G>T (p.Glu31Asp)
2g.206144912C>GCA350056986NDUFS1c.852G>C (p.Glu284Asp)
c.681G>C (p.Glu227Asp)
c.519G>C (p.Glu173Asp)
c.744G>C (p.Glu248Asp)
c.894G>C (p.Glu298Asp)
c.504G>C (p.Glu168Asp)
c.93G>C (p.Glu31Asp)
2g.206144912C>TCA430952523NDUFS1c.852G>A (p.Glu284=)
c.681G>A (p.Glu227=)
c.519G>A (p.Glu173=)
c.744G>A (p.Glu248=)
c.894G>A (p.Glu298=)
c.504G>A (p.Glu168=)
c.93G>A (p.Glu31=)
2g.206144913T>ACA350056996NDUFS1c.851A>T (p.Glu284Val)
c.680A>T (p.Glu227Val)
c.518A>T (p.Glu173Val)
c.743A>T (p.Glu248Val)
c.893A>T (p.Glu298Val)
c.503A>T (p.Glu168Val)
c.92A>T (p.Glu31Val)
2g.206144913T>CCA350056992NDUFS1c.851A>G (p.Glu284Gly)
c.680A>G (p.Glu227Gly)
c.518A>G (p.Glu173Gly)
c.743A>G (p.Glu248Gly)
c.893A>G (p.Glu298Gly)
c.503A>G (p.Glu168Gly)
c.92A>G (p.Glu31Gly)
2g.206144913T>GCA350056993NDUFS1c.851A>C (p.Glu284Ala)
c.680A>C (p.Glu227Ala)
c.518A>C (p.Glu173Ala)
c.743A>C (p.Glu248Ala)
c.893A>C (p.Glu298Ala)
c.503A>C (p.Glu168Ala)
c.92A>C (p.Glu31Ala)
2g.206144914C>ACA350057001NDUFS1c.850G>T (p.Glu284Ter)
c.679G>T (p.Glu227Ter)
c.517G>T (p.Glu173Ter)
c.742G>T (p.Glu248Ter)
c.892G>T (p.Glu298Ter)
c.502G>T (p.Glu168Ter)
c.91G>T (p.Glu31Ter)
2g.206144914C>GCA350057004NDUFS1c.850G>C (p.Glu284Gln)
c.679G>C (p.Glu227Gln)
c.517G>C (p.Glu173Gln)
c.742G>C (p.Glu248Gln)
c.892G>C (p.Glu298Gln)
c.502G>C (p.Glu168Gln)
c.91G>C (p.Glu31Gln)
2g.206144914C>TCA350057006NDUFS1c.850G>A (p.Glu284Lys)
c.679G>A (p.Glu227Lys)
c.517G>A (p.Glu173Lys)
c.742G>A (p.Glu248Lys)
c.892G>A (p.Glu298Lys)
c.502G>A (p.Glu168Lys)
c.91G>A (p.Glu31Lys)
2g.206144915T>ACA350057011NDUFS1c.849A>T (p.Glu283Asp)
c.678A>T (p.Glu226Asp)
c.516A>T (p.Glu172Asp)
c.741A>T (p.Glu247Asp)
c.891A>T (p.Glu297Asp)
c.501A>T (p.Glu167Asp)
c.90A>T (p.Glu30Asp)
2g.206144915T>CCA430952551NDUFS1c.849A>G (p.Glu283=)
c.678A>G (p.Glu226=)
c.516A>G (p.Glu172=)
c.741A>G (p.Glu247=)
c.891A>G (p.Glu297=)
c.501A>G (p.Glu167=)
c.90A>G (p.Glu30=)
2g.206144915T>GCA2070646NDUFS1c.849A>C (p.Glu283Asp)
c.678A>C (p.Glu226Asp)
c.516A>C (p.Glu172Asp)
c.741A>C (p.Glu247Asp)
c.891A>C (p.Glu297Asp)
c.501A>C (p.Glu167Asp)
c.90A>C (p.Glu30Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.206144915T=CA2496487364NDUFS1c.849A= (p.Glu283=)
c.678A= (p.Glu226=)
c.516A= (p.Glu172=)
c.741A= (p.Glu247=)
c.891A= (p.Glu297=)
c.501A= (p.Glu167=)
c.90A= (p.Glu30=)
2g.206144916T>ACA350057017NDUFS1c.848A>T (p.Glu283Val)
c.677A>T (p.Glu226Val)
c.515A>T (p.Glu172Val)
c.740A>T (p.Glu247Val)
c.890A>T (p.Glu297Val)
c.500A>T (p.Glu167Val)
c.89A>T (p.Glu30Val)
2g.206144916T>CCA350057021NDUFS1c.848A>G (p.Glu283Gly)
c.677A>G (p.Glu226Gly)
c.515A>G (p.Glu172Gly)
c.740A>G (p.Glu247Gly)
c.890A>G (p.Glu297Gly)
c.500A>G (p.Glu167Gly)
c.89A>G (p.Glu30Gly)
2g.206144916T>GCA350057024NDUFS1c.848A>C (p.Glu283Ala)
c.677A>C (p.Glu226Ala)
c.515A>C (p.Glu172Ala)
c.740A>C (p.Glu247Ala)
c.890A>C (p.Glu297Ala)
c.500A>C (p.Glu167Ala)
c.89A>C (p.Glu30Ala)
2g.206144917C>ACA350057027NDUFS1c.847G>T (p.Glu283Ter)
c.676G>T (p.Glu226Ter)
c.514G>T (p.Glu172Ter)
c.739G>T (p.Glu247Ter)
c.889G>T (p.Glu297Ter)
c.499G>T (p.Glu167Ter)
c.88G>T (p.Glu30Ter)
2g.206144917C>GCA350057030NDUFS1c.847G>C (p.Glu283Gln)
c.676G>C (p.Glu226Gln)
c.514G>C (p.Glu172Gln)
c.739G>C (p.Glu247Gln)
c.889G>C (p.Glu297Gln)
c.499G>C (p.Glu167Gln)
c.88G>C (p.Glu30Gln)
2g.206144917C>TCA350057031NDUFS1c.847G>A (p.Glu283Lys)
c.676G>A (p.Glu226Lys)
c.514G>A (p.Glu172Lys)
c.739G>A (p.Glu247Lys)
c.889G>A (p.Glu297Lys)
c.499G>A (p.Glu167Lys)
c.88G>A (p.Glu30Lys)
 COSMIC
2g.206144918A>CCA350057037NDUFS1c.846T>G (p.Asn282Lys)
c.675T>G (p.Asn225Lys)
c.513T>G (p.Asn171Lys)
c.738T>G (p.Asn246Lys)
c.888T>G (p.Asn296Lys)
c.498T>G (p.Asn166Lys)
c.87T>G (p.Asn29Lys)
2g.206144918A>GCA430952574NDUFS1c.846T>C (p.Asn282=)
c.675T>C (p.Asn225=)
c.513T>C (p.Asn171=)
c.738T>C (p.Asn246=)
c.888T>C (p.Asn296=)
c.498T>C (p.Asn166=)
c.87T>C (p.Asn29=)
2g.206144918A>TCA350057035NDUFS1c.846T>A (p.Asn282Lys)
c.675T>A (p.Asn225Lys)
c.513T>A (p.Asn171Lys)
c.738T>A (p.Asn246Lys)
c.888T>A (p.Asn296Lys)
c.498T>A (p.Asn166Lys)
c.87T>A (p.Asn29Lys)
2g.206144919T>ACA350057041NDUFS1c.845A>T (p.Asn282Ile)
c.674A>T (p.Asn225Ile)
c.512A>T (p.Asn171Ile)
c.737A>T (p.Asn246Ile)
c.887A>T (p.Asn296Ile)
c.497A>T (p.Asn166Ile)
c.86A>T (p.Asn29Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.206144919T>CCA350057045NDUFS1c.845A>G (p.Asn282Ser)
c.674A>G (p.Asn225Ser)
c.512A>G (p.Asn171Ser)
c.737A>G (p.Asn246Ser)
c.887A>G (p.Asn296Ser)
c.497A>G (p.Asn166Ser)
c.86A>G (p.Asn29Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.206144919T>GCA350057048NDUFS1c.845A>C (p.Asn282Thr)
c.674A>C (p.Asn225Thr)
c.512A>C (p.Asn171Thr)
c.737A>C (p.Asn246Thr)
c.887A>C (p.Asn296Thr)
c.497A>C (p.Asn166Thr)
c.86A>C (p.Asn29Thr)
2g.206144919T=CA2496487365NDUFS1c.845A= (p.Asn282=)
c.674A= (p.Asn225=)
c.512A= (p.Asn171=)
c.737A= (p.Asn246=)
c.887A= (p.Asn296=)
c.497A= (p.Asn166=)
c.86A= (p.Asn29=)
2g.206144920T>ACA350057052NDUFS1c.844A>T (p.Asn282Tyr)
c.673A>T (p.Asn225Tyr)
c.511A>T (p.Asn171Tyr)
c.736A>T (p.Asn246Tyr)
c.886A>T (p.Asn296Tyr)
c.496A>T (p.Asn166Tyr)
c.85A>T (p.Asn29Tyr)
2g.206144920T>CCA63665020NDUFS1c.844A>G (p.Asn282Asp)
c.673A>G (p.Asn225Asp)
c.511A>G (p.Asn171Asp)
c.736A>G (p.Asn246Asp)
c.886A>G (p.Asn296Asp)
c.496A>G (p.Asn166Asp)
c.85A>G (p.Asn29Asp)
 dbSNP
2g.206144920T>GCA350057057NDUFS1c.844A>C (p.Asn282His)
c.673A>C (p.Asn225His)
c.511A>C (p.Asn171His)
c.736A>C (p.Asn246His)
c.886A>C (p.Asn296His)
c.496A>C (p.Asn166His)
c.85A>C (p.Asn29His)
2g.206144920T=CA2496487366NDUFS1c.844A= (p.Asn282=)
c.673A= (p.Asn225=)
c.511A= (p.Asn171=)
c.736A= (p.Asn246=)
c.886A= (p.Asn296=)
c.496A= (p.Asn166=)
c.85A= (p.Asn29=)
2g.206144921G>ACA430952606NDUFS1c.843C>T (p.Ile281=)
c.672C>T (p.Ile224=)
c.510C>T (p.Ile170=)
c.735C>T (p.Ile245=)
c.885C>T (p.Ile295=)
c.495C>T (p.Ile165=)
c.84C>T (p.Ile28=)
 gnomAD v4 COSMIC COSMIC
2g.206144921G>CCA350057061NDUFS1c.843C>G (p.Ile281Met)
c.672C>G (p.Ile224Met)
c.510C>G (p.Ile170Met)
c.735C>G (p.Ile245Met)
c.885C>G (p.Ile295Met)
c.495C>G (p.Ile165Met)
c.84C>G (p.Ile28Met)
2g.206144921G>TCA430952612NDUFS1c.843C>A (p.Ile281=)
c.672C>A (p.Ile224=)
c.510C>A (p.Ile170=)
c.735C>A (p.Ile245=)
c.885C>A (p.Ile295=)
c.495C>A (p.Ile165=)
c.84C>A (p.Ile28=)
2g.206144922A>CCA350057071NDUFS1c.842T>G (p.Ile281Ser)
c.671T>G (p.Ile224Ser)
c.509T>G (p.Ile170Ser)
c.734T>G (p.Ile245Ser)
c.884T>G (p.Ile295Ser)
c.494T>G (p.Ile165Ser)
c.83T>G (p.Ile28Ser)
2g.206144922A>GCA350057074NDUFS1c.842T>C (p.Ile281Thr)
c.671T>C (p.Ile224Thr)
c.509T>C (p.Ile170Thr)
c.734T>C (p.Ile245Thr)
c.884T>C (p.Ile295Thr)
c.494T>C (p.Ile165Thr)
c.83T>C (p.Ile28Thr)
2g.206144922A>TCA350057077NDUFS1c.842T>A (p.Ile281Asn)
c.671T>A (p.Ile224Asn)
c.509T>A (p.Ile170Asn)
c.734T>A (p.Ile245Asn)
c.884T>A (p.Ile295Asn)
c.494T>A (p.Ile165Asn)
c.83T>A (p.Ile28Asn)
2g.206144923T>ACA350057080NDUFS1c.841A>T (p.Ile281Phe)
c.670A>T (p.Ile224Phe)
c.508A>T (p.Ile170Phe)
c.733A>T (p.Ile245Phe)
c.883A>T (p.Ile295Phe)
c.493A>T (p.Ile165Phe)
c.82A>T (p.Ile28Phe)
2g.206144923T>CCA350057083NDUFS1c.841A>G (p.Ile281Val)
c.670A>G (p.Ile224Val)
c.508A>G (p.Ile170Val)
c.733A>G (p.Ile245Val)
c.883A>G (p.Ile295Val)
c.493A>G (p.Ile165Val)
c.82A>G (p.Ile28Val)
 ClinVar dbSNP gnomAD v4
2g.206144923T>GCA350057087NDUFS1c.841A>C (p.Ile281Leu)
c.670A>C (p.Ile224Leu)
c.508A>C (p.Ile170Leu)
c.733A>C (p.Ile245Leu)
c.883A>C (p.Ile295Leu)
c.493A>C (p.Ile165Leu)
c.82A>C (p.Ile28Leu)
2g.206144923T=CA2496487367NDUFS1c.841A= (p.Ile281=)
c.670A= (p.Ile224=)
c.508A= (p.Ile170=)
c.733A= (p.Ile245=)
c.883A= (p.Ile295=)
c.493A= (p.Ile165=)
c.82A= (p.Ile28=)
2g.206144924G>ACA430952630NDUFS1c.840C>T (p.Asp280=)
c.669C>T (p.Asp223=)
c.507C>T (p.Asp169=)
c.732C>T (p.Asp244=)
c.882C>T (p.Asp294=)
c.492C>T (p.Asp164=)
c.81C>T (p.Asp27=)
 dbSNP gnomAD v3 gnomAD v4
2g.206144924G>CCA350057103NDUFS1c.840C>G (p.Asp280Glu)
c.669C>G (p.Asp223Glu)
c.507C>G (p.Asp169Glu)
c.732C>G (p.Asp244Glu)
c.882C>G (p.Asp294Glu)
c.492C>G (p.Asp164Glu)
c.81C>G (p.Asp27Glu)
2g.206144924G=CA2496487368NDUFS1c.840C= (p.Asp280=)
c.669C= (p.Asp223=)
c.507C= (p.Asp169=)
c.732C= (p.Asp244=)
c.882C= (p.Asp294=)
c.492C= (p.Asp164=)
c.81C= (p.Asp27=)
2g.206144924G>TCA350057096NDUFS1c.840C>A (p.Asp280Glu)
c.669C>A (p.Asp223Glu)
c.507C>A (p.Asp169Glu)
c.732C>A (p.Asp244Glu)
c.882C>A (p.Asp294Glu)
c.492C>A (p.Asp164Glu)
c.81C>A (p.Asp27Glu)
2g.206144925T>ACA350057106NDUFS1c.839A>T (p.Asp280Val)
c.668A>T (p.Asp223Val)
c.506A>T (p.Asp169Val)
c.731A>T (p.Asp244Val)
c.881A>T (p.Asp294Val)
c.491A>T (p.Asp164Val)
c.80A>T (p.Asp27Val)
2g.206144925T>CCA350057109NDUFS1c.839A>G (p.Asp280Gly)
c.668A>G (p.Asp223Gly)
c.506A>G (p.Asp169Gly)
c.731A>G (p.Asp244Gly)
c.881A>G (p.Asp294Gly)
c.491A>G (p.Asp164Gly)
c.80A>G (p.Asp27Gly)
 gnomAD v4
2g.206144925T>GCA350057111NDUFS1c.839A>C (p.Asp280Ala)
c.668A>C (p.Asp223Ala)
c.506A>C (p.Asp169Ala)
c.731A>C (p.Asp244Ala)
c.881A>C (p.Asp294Ala)
c.491A>C (p.Asp164Ala)
c.80A>C (p.Asp27Ala)
2g.206144926C>ACA350057113NDUFS1c.838G>T (p.Asp280Tyr)
c.667G>T (p.Asp223Tyr)
c.505G>T (p.Asp169Tyr)
c.730G>T (p.Asp244Tyr)
c.880G>T (p.Asp294Tyr)
c.490G>T (p.Asp164Tyr)
c.79G>T (p.Asp27Tyr)
2g.206144926C>GCA350057114NDUFS1c.838G>C (p.Asp280His)
c.667G>C (p.Asp223His)
c.505G>C (p.Asp169His)
c.730G>C (p.Asp244His)
c.880G>C (p.Asp294His)
c.490G>C (p.Asp164His)
c.79G>C (p.Asp27His)
2g.206144926C>TCA350057115NDUFS1c.838G>A (p.Asp280Asn)
c.667G>A (p.Asp223Asn)
c.505G>A (p.Asp169Asn)
c.730G>A (p.Asp244Asn)
c.880G>A (p.Asp294Asn)
c.490G>A (p.Asp164Asn)
c.79G>A (p.Asp27Asn)
2g.206144927C>ACA350057119NDUFS1c.837G>T (p.Glu279Asp)
c.666G>T (p.Glu222Asp)
c.504G>T (p.Glu168Asp)
c.729G>T (p.Glu243Asp)
c.879G>T (p.Glu293Asp)
c.489G>T (p.Glu163Asp)
c.78G>T (p.Glu26Asp)
2g.206144927C=CA2496487369NDUFS1c.837G= (p.Glu279=)
c.666G= (p.Glu222=)
c.504G= (p.Glu168=)
c.729G= (p.Glu243=)
c.879G= (p.Glu293=)
c.489G= (p.Glu163=)
c.78G= (p.Glu26=)
2g.206144927C>GCA350057121NDUFS1c.837G>C (p.Glu279Asp)
c.666G>C (p.Glu222Asp)
c.504G>C (p.Glu168Asp)
c.729G>C (p.Glu243Asp)
c.879G>C (p.Glu293Asp)
c.489G>C (p.Glu163Asp)
c.78G>C (p.Glu26Asp)
2g.206144927C>TCA430952677NDUFS1c.837G>A (p.Glu279=)
c.666G>A (p.Glu222=)
c.504G>A (p.Glu168=)
c.729G>A (p.Glu243=)
c.879G>A (p.Glu293=)
c.489G>A (p.Glu163=)
c.78G>A (p.Glu26=)
 dbSNP gnomAD v2 gnomAD v4
2g.206144928T>ACA350057126NDUFS1c.836A>T (p.Glu279Val)
c.665A>T (p.Glu222Val)
c.503A>T (p.Glu168Val)
c.728A>T (p.Glu243Val)
c.878A>T (p.Glu293Val)
c.488A>T (p.Glu163Val)
c.77A>T (p.Glu26Val)
2g.206144928T>CCA350057131NDUFS1c.836A>G (p.Glu279Gly)
c.665A>G (p.Glu222Gly)
c.503A>G (p.Glu168Gly)
c.728A>G (p.Glu243Gly)
c.878A>G (p.Glu293Gly)
c.488A>G (p.Glu163Gly)
c.77A>G (p.Glu26Gly)
2g.206144928T>GCA350057134NDUFS1c.836A>C (p.Glu279Ala)
c.665A>C (p.Glu222Ala)
c.503A>C (p.Glu168Ala)
c.728A>C (p.Glu243Ala)
c.878A>C (p.Glu293Ala)
c.488A>C (p.Glu163Ala)
c.77A>C (p.Glu26Ala)
2g.206144929C>ACA350057138NDUFS1c.835G>T (p.Glu279Ter)
c.664G>T (p.Glu222Ter)
c.502G>T (p.Glu168Ter)
c.727G>T (p.Glu243Ter)
c.877G>T (p.Glu293Ter)
c.487G>T (p.Glu163Ter)
c.76G>T (p.Glu26Ter)
2g.206144929C>GCA350057144NDUFS1c.835G>C (p.Glu279Gln)
c.664G>C (p.Glu222Gln)
c.502G>C (p.Glu168Gln)
c.727G>C (p.Glu243Gln)
c.877G>C (p.Glu293Gln)
c.487G>C (p.Glu163Gln)
c.76G>C (p.Glu26Gln)
2g.206144929C>TCA350057146NDUFS1c.835G>A (p.Glu279Lys)
c.664G>A (p.Glu222Lys)
c.502G>A (p.Glu168Lys)
c.727G>A (p.Glu243Lys)
c.877G>A (p.Glu293Lys)
c.487G>A (p.Glu163Lys)
c.76G>A (p.Glu26Lys)
2g.206144930A>CCA350057158NDUFS1c.834T>G (p.His278Gln)
c.663T>G (p.His221Gln)
c.501T>G (p.His167Gln)
c.726T>G (p.His242Gln)
c.876T>G (p.His292Gln)
c.486T>G (p.His162Gln)
c.75T>G (p.His25Gln)
2g.206144930A>GCA430952700NDUFS1c.834T>C (p.His278=)
c.663T>C (p.His221=)
c.501T>C (p.His167=)
c.726T>C (p.His242=)
c.876T>C (p.His292=)
c.486T>C (p.His162=)
c.75T>C (p.His25=)
2g.206144930A>TCA350057150NDUFS1c.834T>A (p.His278Gln)
c.663T>A (p.His221Gln)
c.501T>A (p.His167Gln)
c.726T>A (p.His242Gln)
c.876T>A (p.His292Gln)
c.486T>A (p.His162Gln)
c.75T>A (p.His25Gln)
2g.206144931T>ACA350057162NDUFS1c.833A>T (p.His278Leu)
c.662A>T (p.His221Leu)
c.500A>T (p.His167Leu)
c.725A>T (p.His242Leu)
c.875A>T (p.His292Leu)
c.485A>T (p.His162Leu)
c.74A>T (p.His25Leu)
2g.206144931T>CCA2070647NDUFS1c.833A>G (p.His278Arg)
c.662A>G (p.His221Arg)
c.500A>G (p.His167Arg)
c.725A>G (p.His242Arg)
c.875A>G (p.His292Arg)
c.485A>G (p.His162Arg)
c.74A>G (p.His25Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.206144931T>GCA350057165NDUFS1c.833A>C (p.His278Pro)
c.662A>C (p.His221Pro)
c.500A>C (p.His167Pro)
c.725A>C (p.His242Pro)
c.875A>C (p.His292Pro)
c.485A>C (p.His162Pro)
c.74A>C (p.His25Pro)
 gnomAD v4
2g.206144931T=CA2496487370NDUFS1c.833A= (p.His278=)
c.662A= (p.His221=)
c.500A= (p.His167=)
c.725A= (p.His242=)
c.875A= (p.His292=)
c.485A= (p.His162=)
c.74A= (p.His25=)
2g.206144932G>ACA350057170NDUFS1c.832C>T (p.His278Tyr)
c.661C>T (p.His221Tyr)
c.499C>T (p.His167Tyr)
c.724C>T (p.His242Tyr)
c.874C>T (p.His292Tyr)
c.484C>T (p.His162Tyr)
c.73C>T (p.His25Tyr)
2g.206144932G>CCA350057175NDUFS1c.832C>G (p.His278Asp)
c.661C>G (p.His221Asp)
c.499C>G (p.His167Asp)
c.724C>G (p.His242Asp)
c.874C>G (p.His292Asp)
c.484C>G (p.His162Asp)
c.73C>G (p.His25Asp)
2g.206144932G>TCA350057173NDUFS1c.832C>A (p.His278Asn)
c.661C>A (p.His221Asn)
c.499C>A (p.His167Asn)
c.724C>A (p.His242Asn)
c.874C>A (p.His292Asn)
c.484C>A (p.His162Asn)
c.73C>A (p.His25Asn)
2g.206144933C>ACA350057177NDUFS1c.831G>T (p.Met277Ile)
c.660G>T (p.Met220Ile)
c.498G>T (p.Met166Ile)
c.723G>T (p.Met241Ile)
c.873G>T (p.Met291Ile)
c.483G>T (p.Met161Ile)
c.72G>T (p.Met24Ile)
2g.206144933C=CA2496487371NDUFS1c.831G= (p.Met277=)
c.660G= (p.Met220=)
c.498G= (p.Met166=)
c.723G= (p.Met241=)
c.873G= (p.Met291=)
c.483G= (p.Met161=)
c.72G= (p.Met24=)
2g.206144933C>GCA350057180NDUFS1c.831G>C (p.Met277Ile)
c.660G>C (p.Met220Ile)
c.498G>C (p.Met166Ile)
c.723G>C (p.Met241Ile)
c.873G>C (p.Met291Ile)
c.483G>C (p.Met161Ile)
c.72G>C (p.Met24Ile)
2g.206144933C>TCA350057182NDUFS1c.831G>A (p.Met277Ile)
c.660G>A (p.Met220Ile)
c.498G>A (p.Met166Ile)
c.723G>A (p.Met241Ile)
c.873G>A (p.Met291Ile)
c.483G>A (p.Met161Ile)
c.72G>A (p.Met24Ile)
 ClinVar dbSNP gnomAD v4
2g.206144934A=CA2496487372NDUFS1c.830T= (p.Met277=)
c.659T= (p.Met220=)
c.497T= (p.Met166=)
c.722T= (p.Met241=)
c.872T= (p.Met291=)
c.482T= (p.Met161=)
c.71T= (p.Met24=)
2g.206144934A>CCA2070648NDUFS1c.830T>G (p.Met277Arg)
c.659T>G (p.Met220Arg)
c.497T>G (p.Met166Arg)
c.722T>G (p.Met241Arg)
c.872T>G (p.Met291Arg)
c.482T>G (p.Met161Arg)
c.71T>G (p.Met24Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.206144934A>GCA63665026NDUFS1c.830T>C (p.Met277Thr)
c.659T>C (p.Met220Thr)
c.497T>C (p.Met166Thr)
c.722T>C (p.Met241Thr)
c.872T>C (p.Met291Thr)
c.482T>C (p.Met161Thr)
c.71T>C (p.Met24Thr)
 dbSNP gnomAD v4
2g.206144934A>TCA350057190NDUFS1c.830T>A (p.Met277Lys)
c.659T>A (p.Met220Lys)
c.497T>A (p.Met166Lys)
c.722T>A (p.Met241Lys)
c.872T>A (p.Met291Lys)
c.482T>A (p.Met161Lys)
c.71T>A (p.Met24Lys)
2g.206144935T>ACA350057201NDUFS1c.829A>T (p.Met277Leu)
c.658A>T (p.Met220Leu)
c.496A>T (p.Met166Leu)
c.721A>T (p.Met241Leu)
c.871A>T (p.Met291Leu)
c.481A>T (p.Met161Leu)
c.70A>T (p.Met24Leu)
 gnomAD v4
2g.206144935T>CCA350057204NDUFS1c.829A>G (p.Met277Val)
c.658A>G (p.Met220Val)
c.496A>G (p.Met166Val)
c.721A>G (p.Met241Val)
c.871A>G (p.Met291Val)
c.481A>G (p.Met161Val)
c.70A>G (p.Met24Val)
2g.206144935T>GCA350057207NDUFS1c.829A>C (p.Met277Leu)
c.658A>C (p.Met220Leu)
c.496A>C (p.Met166Leu)
c.721A>C (p.Met241Leu)
c.871A>C (p.Met291Leu)
c.481A>C (p.Met161Leu)
c.70A>C (p.Met24Leu)
2g.206144936A>CCA430952780NDUFS1c.828T>G (p.Arg276=)
c.657T>G (p.Arg219=)
c.495T>G (p.Arg165=)
c.720T>G (p.Arg240=)
c.870T>G (p.Arg290=)
c.480T>G (p.Arg160=)
c.69T>G (p.Arg23=)
2g.206144936A>GCA430952781NDUFS1c.828T>C (p.Arg276=)
c.657T>C (p.Arg219=)
c.495T>C (p.Arg165=)
c.720T>C (p.Arg240=)
c.870T>C (p.Arg290=)
c.480T>C (p.Arg160=)
c.69T>C (p.Arg23=)
2g.206144936A>TCA430952782NDUFS1c.828T>A (p.Arg276=)
c.657T>A (p.Arg219=)
c.495T>A (p.Arg165=)
c.720T>A (p.Arg240=)
c.870T>A (p.Arg290=)
c.480T>A (p.Arg160=)
c.69T>A (p.Arg23=)
2g.206144937C>ACA350057213NDUFS1c.827G>T (p.Arg276Leu)
c.656G>T (p.Arg219Leu)
c.494G>T (p.Arg165Leu)
c.719G>T (p.Arg240Leu)
c.869G>T (p.Arg290Leu)
c.479G>T (p.Arg160Leu)
c.68G>T (p.Arg23Leu)
2g.206144937C=CA2496487373NDUFS1c.827G= (p.Arg276=)
c.656G= (p.Arg219=)
c.494G= (p.Arg165=)
c.719G= (p.Arg240=)
c.869G= (p.Arg290=)
c.479G= (p.Arg160=)
c.68G= (p.Arg23=)
2g.206144937C>GCA350057215NDUFS1c.827G>C (p.Arg276Pro)
c.656G>C (p.Arg219Pro)
c.494G>C (p.Arg165Pro)
c.719G>C (p.Arg240Pro)
c.869G>C (p.Arg290Pro)
c.479G>C (p.Arg160Pro)
c.68G>C (p.Arg23Pro)
2g.206144937C>TCA2070649NDUFS1c.827G>A (p.Arg276His)
c.656G>A (p.Arg219His)
c.494G>A (p.Arg165His)
c.719G>A (p.Arg240His)
c.869G>A (p.Arg290His)
c.479G>A (p.Arg160His)
c.68G>A (p.Arg23His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206144938G>ACA2070650NDUFS1c.826C>T (p.Arg276Cys)
c.655C>T (p.Arg219Cys)
c.493C>T (p.Arg165Cys)
c.718C>T (p.Arg240Cys)
c.868C>T (p.Arg290Cys)
c.478C>T (p.Arg160Cys)
c.67C>T (p.Arg23Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206144938G>CCA350057221NDUFS1c.826C>G (p.Arg276Gly)
c.655C>G (p.Arg219Gly)
c.493C>G (p.Arg165Gly)
c.718C>G (p.Arg240Gly)
c.868C>G (p.Arg290Gly)
c.478C>G (p.Arg160Gly)
c.67C>G (p.Arg23Gly)
2g.206144938G=CA2496487374NDUFS1c.826C= (p.Arg276=)
c.655C= (p.Arg219=)
c.493C= (p.Arg165=)
c.718C= (p.Arg240=)
c.868C= (p.Arg290=)
c.478C= (p.Arg160=)
c.67C= (p.Arg23=)
2g.206144938G>TCA350057224NDUFS1c.826C>A (p.Arg276Ser)
c.655C>A (p.Arg219Ser)
c.493C>A (p.Arg165Ser)
c.718C>A (p.Arg240Ser)
c.868C>A (p.Arg290Ser)
c.478C>A (p.Arg160Ser)
c.67C>A (p.Arg23Ser)
2g.206144939T>ACA430952800NDUFS1c.825A>T (p.Pro275=)
c.654A>T (p.Pro218=)
c.492A>T (p.Pro164=)
c.717A>T (p.Pro239=)
c.867A>T (p.Pro289=)
c.477A>T (p.Pro159=)
c.66A>T (p.Pro22=)
2g.206144939T>CCA430952803NDUFS1c.825A>G (p.Pro275=)
c.654A>G (p.Pro218=)
c.492A>G (p.Pro164=)
c.717A>G (p.Pro239=)
c.867A>G (p.Pro289=)
c.477A>G (p.Pro159=)
c.66A>G (p.Pro22=)
 dbSNP gnomAD v2
2g.206144939T>GCA430952807NDUFS1c.825A>C (p.Pro275=)
c.654A>C (p.Pro218=)
c.492A>C (p.Pro164=)
c.717A>C (p.Pro239=)
c.867A>C (p.Pro289=)
c.477A>C (p.Pro159=)
c.66A>C (p.Pro22=)
2g.206144939T=CA2496487375NDUFS1c.825A= (p.Pro275=)
c.654A= (p.Pro218=)
c.492A= (p.Pro164=)
c.717A= (p.Pro239=)
c.867A= (p.Pro289=)
c.477A= (p.Pro159=)
c.66A= (p.Pro22=)
2g.206144940G>ACA350057235NDUFS1c.824C>T (p.Pro275Leu)
c.653C>T (p.Pro218Leu)
c.491C>T (p.Pro164Leu)
c.716C>T (p.Pro239Leu)
c.866C>T (p.Pro289Leu)
c.476C>T (p.Pro159Leu)
c.65C>T (p.Pro22Leu)
2g.206144940G>CCA350057238NDUFS1c.824C>G (p.Pro275Arg)
c.653C>G (p.Pro218Arg)
c.491C>G (p.Pro164Arg)
c.716C>G (p.Pro239Arg)
c.866C>G (p.Pro289Arg)
c.476C>G (p.Pro159Arg)
c.65C>G (p.Pro22Arg)
2g.206144940G>TCA350057240NDUFS1c.824C>A (p.Pro275Gln)
c.653C>A (p.Pro218Gln)
c.491C>A (p.Pro164Gln)
c.716C>A (p.Pro239Gln)
c.866C>A (p.Pro289Gln)
c.476C>A (p.Pro159Gln)
c.65C>A (p.Pro22Gln)
2g.206144941G>ACA350057244NDUFS1c.823C>T (p.Pro275Ser)
c.652C>T (p.Pro218Ser)
c.490C>T (p.Pro164Ser)
c.715C>T (p.Pro239Ser)
c.865C>T (p.Pro289Ser)
c.475C>T (p.Pro159Ser)
c.64C>T (p.Pro22Ser)
 COSMIC
2g.206144941G>CCA350057246NDUFS1c.823C>G (p.Pro275Ala)
c.652C>G (p.Pro218Ala)
c.490C>G (p.Pro164Ala)
c.715C>G (p.Pro239Ala)
c.865C>G (p.Pro289Ala)
c.475C>G (p.Pro159Ala)
c.64C>G (p.Pro22Ala)
2g.206144941G>TCA350057247NDUFS1c.823C>A (p.Pro275Thr)
c.652C>A (p.Pro218Thr)
c.490C>A (p.Pro164Thr)
c.715C>A (p.Pro239Thr)
c.865C>A (p.Pro289Thr)
c.475C>A (p.Pro159Thr)
c.64C>A (p.Pro22Thr)
2g.206144942C>ACA350057248NDUFS1c.822G>T (p.Leu274Phe)
c.651G>T (p.Leu217Phe)
c.489G>T (p.Leu163Phe)
c.714G>T (p.Leu238Phe)
c.864G>T (p.Leu288Phe)
c.474G>T (p.Leu158Phe)
c.63G>T (p.Leu21Phe)
2g.206144942C=CA2496487376NDUFS1c.822G= (p.Leu274=)
c.651G= (p.Leu217=)
c.489G= (p.Leu163=)
c.714G= (p.Leu238=)
c.864G= (p.Leu288=)
c.474G= (p.Leu158=)
c.63G= (p.Leu21=)
2g.206144942C>GCA350057251NDUFS1c.822G>C (p.Leu274Phe)
c.651G>C (p.Leu217Phe)
c.489G>C (p.Leu163Phe)
c.714G>C (p.Leu238Phe)
c.864G>C (p.Leu288Phe)
c.474G>C (p.Leu158Phe)
c.63G>C (p.Leu21Phe)
 gnomAD v4
2g.206144942C>TCA430952833NDUFS1c.822G>A (p.Leu274=)
c.651G>A (p.Leu217=)
c.489G>A (p.Leu163=)
c.714G>A (p.Leu238=)
c.864G>A (p.Leu288=)
c.474G>A (p.Leu158=)
c.63G>A (p.Leu21=)
 dbSNP
2g.206144943A>CCA350057253NDUFS1c.821T>G (p.Leu274Trp)
c.650T>G (p.Leu217Trp)
c.488T>G (p.Leu163Trp)
c.713T>G (p.Leu238Trp)
c.863T>G (p.Leu288Trp)
c.473T>G (p.Leu158Trp)
c.62T>G (p.Leu21Trp)
2g.206144943A>GCA350057254NDUFS1c.821T>C (p.Leu274Ser)
c.650T>C (p.Leu217Ser)
c.488T>C (p.Leu163Ser)
c.713T>C (p.Leu238Ser)
c.863T>C (p.Leu288Ser)
c.473T>C (p.Leu158Ser)
c.62T>C (p.Leu21Ser)
2g.206144943A>TCA350057257NDUFS1c.821T>A (p.Leu274Ter)
c.650T>A (p.Leu217Ter)
c.488T>A (p.Leu163Ter)
c.713T>A (p.Leu238Ter)
c.863T>A (p.Leu288Ter)
c.473T>A (p.Leu158Ter)
c.62T>A (p.Leu21Ter)
2g.206144944A=CA2496487377NDUFS1c.820T= (p.Leu274=)
c.649T= (p.Leu217=)
c.487T= (p.Leu163=)
c.712T= (p.Leu238=)
c.862T= (p.Leu288=)
c.472T= (p.Leu158=)
c.61T= (p.Leu21=)
2g.206144944A>CCA350057273NDUFS1c.820T>G (p.Leu274Val)
c.649T>G (p.Leu217Val)
c.487T>G (p.Leu163Val)
c.712T>G (p.Leu238Val)
c.862T>G (p.Leu288Val)
c.472T>G (p.Leu158Val)
c.61T>G (p.Leu21Val)
2g.206144944A>GCA430952861NDUFS1c.820T>C (p.Leu274=)
c.649T>C (p.Leu217=)
c.487T>C (p.Leu163=)
c.712T>C (p.Leu238=)
c.862T>C (p.Leu288=)
c.472T>C (p.Leu158=)
c.61T>C (p.Leu21=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.206144944A>TCA350057262NDUFS1c.820T>A (p.Leu274Met)
c.649T>A (p.Leu217Met)
c.487T>A (p.Leu163Met)
c.712T>A (p.Leu238Met)
c.862T>A (p.Leu288Met)
c.472T>A (p.Leu158Met)
c.61T>A (p.Leu21Met)
2g.206144945A>CCA350057275NDUFS1c.819T>G (p.Ile273Met)
c.648T>G (p.Ile216Met)
c.486T>G (p.Ile162Met)
c.711T>G (p.Ile237Met)
c.861T>G (p.Ile287Met)
c.471T>G (p.Ile157Met)
c.60T>G (p.Ile20Met)
2g.206144945A>GCA430952870NDUFS1c.819T>C (p.Ile273=)
c.648T>C (p.Ile216=)
c.486T>C (p.Ile162=)
c.711T>C (p.Ile237=)
c.861T>C (p.Ile287=)
c.471T>C (p.Ile157=)
c.60T>C (p.Ile20=)
2g.206144945A>TCA430952871NDUFS1c.819T>A (p.Ile273=)
c.648T>A (p.Ile216=)
c.486T>A (p.Ile162=)
c.711T>A (p.Ile237=)
c.861T>A (p.Ile287=)
c.471T>A (p.Ile157=)
c.60T>A (p.Ile20=)
2g.206144946A=CA2496487378NDUFS1c.818T= (p.Ile273=)
c.647T= (p.Ile216=)
c.485T= (p.Ile162=)
c.710T= (p.Ile237=)
c.860T= (p.Ile287=)
c.470T= (p.Ile157=)
c.59T= (p.Ile20=)
2g.206144946A>CCA350057278NDUFS1c.818T>G (p.Ile273Ser)
c.647T>G (p.Ile216Ser)
c.485T>G (p.Ile162Ser)
c.710T>G (p.Ile237Ser)
c.860T>G (p.Ile287Ser)
c.470T>G (p.Ile157Ser)
c.59T>G (p.Ile20Ser)
 gnomAD v4
2g.206144946A>GCA350057281NDUFS1c.818T>C (p.Ile273Thr)
c.647T>C (p.Ile216Thr)
c.485T>C (p.Ile162Thr)
c.710T>C (p.Ile237Thr)
c.860T>C (p.Ile287Thr)
c.470T>C (p.Ile157Thr)
c.59T>C (p.Ile20Thr)
 dbSNP
2g.206144946A>TCA350057283NDUFS1c.818T>A (p.Ile273Asn)
c.647T>A (p.Ile216Asn)
c.485T>A (p.Ile162Asn)
c.710T>A (p.Ile237Asn)
c.860T>A (p.Ile287Asn)
c.470T>A (p.Ile157Asn)
c.59T>A (p.Ile20Asn)
2g.206144947T>ACA350057291NDUFS1c.817A>T (p.Ile273Phe)
c.646A>T (p.Ile216Phe)
c.484A>T (p.Ile162Phe)
c.709A>T (p.Ile237Phe)
c.859A>T (p.Ile287Phe)
c.469A>T (p.Ile157Phe)
c.58A>T (p.Ile20Phe)
2g.206144947T>CCA350057299NDUFS1c.817A>G (p.Ile273Val)
c.646A>G (p.Ile216Val)
c.484A>G (p.Ile162Val)
c.709A>G (p.Ile237Val)
c.859A>G (p.Ile287Val)
c.469A>G (p.Ile157Val)
c.58A>G (p.Ile20Val)
 dbSNP gnomAD v2 gnomAD v4
2g.206144947T>GCA350057302NDUFS1c.817A>C (p.Ile273Leu)
c.646A>C (p.Ile216Leu)
c.484A>C (p.Ile162Leu)
c.709A>C (p.Ile237Leu)
c.859A>C (p.Ile287Leu)
c.469A>C (p.Ile157Leu)
c.58A>C (p.Ile20Leu)
2g.206144947T=CA2496487379NDUFS1c.817A= (p.Ile273=)
c.646A= (p.Ile216=)
c.484A= (p.Ile162=)
c.709A= (p.Ile237=)
c.859A= (p.Ile287=)
c.469A= (p.Ile157=)
c.58A= (p.Ile20=)
2g.206144949_206144951delCA2662803886NDUFS1c.815_817del (p.Arg272del)
c.644_646del (p.Arg215del)
c.482_484del (p.Arg161del)
c.707_709del (p.Arg236del)
c.857_859del (p.Arg286del)
c.467_469del (p.Arg156del)
c.56_58del (p.Arg19del)
 gnomAD v4
2g.206144948C>ACA350057306NDUFS1c.816G>T (p.Arg272Ser)
c.645G>T (p.Arg215Ser)
c.483G>T (p.Arg161Ser)
c.708G>T (p.Arg236Ser)
c.858G>T (p.Arg286Ser)
c.468G>T (p.Arg156Ser)
c.57G>T (p.Arg19Ser)
2g.206144948C>GCA350057307NDUFS1c.816G>C (p.Arg272Ser)
c.645G>C (p.Arg215Ser)
c.483G>C (p.Arg161Ser)
c.708G>C (p.Arg236Ser)
c.858G>C (p.Arg286Ser)
c.468G>C (p.Arg156Ser)
c.57G>C (p.Arg19Ser)
2g.206144948C>TCA430952891NDUFS1c.816G>A (p.Arg272=)
c.645G>A (p.Arg215=)
c.483G>A (p.Arg161=)
c.708G>A (p.Arg236=)
c.858G>A (p.Arg286=)
c.468G>A (p.Arg156=)
c.57G>A (p.Arg19=)

Number of alleles fetched