Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.206144854_206144857del | CA539058081 | NDUFS1 | c.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 |
2 | g.206144855A= | CA2496487344 | NDUFS1 | c.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=) | |
2 | g.206144855A>C | CA2662803862 | NDUFS1 | c.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 |
2 | g.206144855A>G | CA539058082 | NDUFS1 | c.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 |
2 | g.206144856A>C | CA2662803863 | NDUFS1 | c.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 |
2 | g.206144858C>G | CA2577222161 | NDUFS1 | c.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) | |
2 | g.206144858_206144860delinsCTG | CA2496487345 | NDUFS1 | c.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) | |
2 | g.206144859T>C | CA2070641 | NDUFS1 | c.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 |
2 | g.206144859T= | CA2496487346 | NDUFS1 | c.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=) | |
2 | g.206144860_206144861del | CA2070640 | NDUFS1 | c.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 |
2 | g.206144862A= | CA2496487347 | NDUFS1 | c.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=) | |
2 | g.206144862A>C | CA539058083 | NDUFS1 | c.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 |
2 | g.206144863A>G | CA2662803868 | NDUFS1 | c.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 |
2 | g.206144867_206144871del | CA2662803869 | NDUFS1 | c.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 |
2 | g.206144865A>G | CA2662803870 | NDUFS1 | c.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 |
2 | g.206144866G>C | CA2662803871 | NDUFS1 | c.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 |
2 | g.206144868T>C | CA2496487349 | NDUFS1 | c.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 |
2 | g.206144868T>G | CA2496487350 | NDUFS1 | c.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 |
2 | g.206144868T= | CA2496487348 | NDUFS1 | c.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=) | |
2 | g.206144869A>T | CA2662803872 | NDUFS1 | c.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 |
2 | g.206144871G>A | CA2577222162 | NDUFS1 | c.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) | |
2 | g.206144871G>C | CA2753997162 | NDUFS1 | c.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) | |
2 | g.206144875_206144876insTTTTATAATAATTTTG | CA2554780692 | NDUFS1 | c.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) | |
2 | g.206144877C= | CA2496487351 | NDUFS1 | c.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=) | |
2 | g.206144877C>T | CA539058084 | NDUFS1 | c.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 |
2 | g.206144879A>G | CA2577222166 | NDUFS1 | c.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) | |
2 | g.206144882_206144883del | CA2577222165 | NDUFS1 | c.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) | |
2 | g.206144880T>C | CA2070642 | NDUFS1 | c.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 |
2 | g.206144880T>G | CA2740362030 | NDUFS1 | c.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) | |
2 | g.206144880T= | CA2496487352 | NDUFS1 | c.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=) | |
2 | g.206144881A= | CA2496487353 | NDUFS1 | c.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=) | |
2 | g.206144881A>G | CA2496487354 | NDUFS1 | c.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 |
2 | g.206144882T>A | CA2070643 | NDUFS1 | c.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 |
2 | g.206144882T>C | CA763755849 | NDUFS1 | c.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 |
2 | g.206144882T= | CA2496487355 | NDUFS1 | c.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=) | |
2 | g.206144884G>A | CA2662803877 | NDUFS1 | c.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 |
2 | g.206144885C= | CA2496487356 | NDUFS1 | c.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=) | |
2 | g.206144885C>T | CA63664997 | NDUFS1 | c.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 |
2 | g.206144886A= | CA2496487357 | NDUFS1 | c.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=) | |
2 | g.206144886A>G | CA539058085 | NDUFS1 | c.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 |
2 | g.206144887T>C | CA2070644 | NDUFS1 | c.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 |
2 | g.206144887T= | CA2496487358 | NDUFS1 | c.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=) | |
2 | g.206144889T>C | CA763755860 | NDUFS1 | c.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 |
2 | g.206144889T= | CA2496487359 | NDUFS1 | c.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=) | |
2 | g.206144890A>C | CA350056200 | NDUFS1 | c.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) | |
2 | g.206144890A>G | CA350056208 | NDUFS1 | c.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) | |
2 | g.206144890A>T | CA350056211 | NDUFS1 | c.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) | |
2 | g.206144891C>A | CA350056215 | NDUFS1 | c.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) | |
2 | g.206144891C>G | CA350056222 | NDUFS1 | c.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) | |
2 | g.206144891C>T | CA350056224 | NDUFS1 | c.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) | |
2 | g.206144892C>A | CA350056229 | NDUFS1 | c.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) | |
2 | g.206144892C>G | CA350056237 | NDUFS1 | c.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 |
2 | g.206144892C>T | CA350056240 | NDUFS1 | c.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 |
2 | g.206144893T>A | CA350056248 | NDUFS1 | c.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 |
2 | g.206144893T>C | CA350056246 | NDUFS1 | c.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) | |
2 | g.206144893T>G | CA430951444 | NDUFS1 | c.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=) | |
2 | g.206144894G>A | CA430951447 | NDUFS1 | c.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=) | |
2 | g.206144894G>C | CA430951450 | NDUFS1 | c.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=) | |
2 | g.206144894G= | CA2496487360 | NDUFS1 | c.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=) | |
2 | g.206144894G>T | CA2070645 | NDUFS1 | c.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 |
2 | g.206144895G>A | CA350056252 | NDUFS1 | c.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 |
2 | g.206144895G>C | CA350056254 | NDUFS1 | c.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) | |
2 | g.206144895G>T | CA350056256 | NDUFS1 | c.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) | |
2 | g.206144896T>A | CA350056260 | NDUFS1 | c.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) | |
2 | g.206144896T>C | CA350056263 | NDUFS1 | c.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) | |
2 | g.206144896T>G | CA350056269 | NDUFS1 | c.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) | |
2 | g.206144899dup | CA2662803880 | NDUFS1 | c.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 |
2 | g.206144899del | CA2577222169 | NDUFS1 | c.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) | |
2 | g.206144897T>A | CA350056272 | NDUFS1 | c.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) | |
2 | g.206144897T>C | CA430951453 | NDUFS1 | c.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 |
2 | g.206144897T>G | CA350056279 | NDUFS1 | c.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) | |
2 | g.206144898T>A | CA350056289 | NDUFS1 | c.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) | |
2 | g.206144898T>C | CA350056294 | NDUFS1 | c.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) | |
2 | g.206144898T>G | CA350056307 | NDUFS1 | c.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) | |
2 | g.206144899T>A | CA350056866 | NDUFS1 | c.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) | |
2 | g.206144899T>C | CA350056871 | NDUFS1 | c.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) | |
2 | g.206144899T>G | CA350056877 | NDUFS1 | c.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) | |
2 | g.206144900A= | CA2496487361 | NDUFS1 | c.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=) | |
2 | g.206144900A>C | CA350056881 | NDUFS1 | c.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 |
2 | g.206144900A>G | CA430952383 | NDUFS1 | c.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=) | |
2 | g.206144900A>T | CA350056883 | NDUFS1 | c.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) | |
2 | g.206144901T>A | CA350056887 | NDUFS1 | c.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) | |
2 | g.206144901T>C | CA350056895 | NDUFS1 | c.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) | |
2 | g.206144901T>G | CA350056898 | NDUFS1 | c.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) | |
2 | g.206144902C>A | CA350056900 | NDUFS1 | c.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) | |
2 | g.206144902C= | CA2496487362 | NDUFS1 | c.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=) | |
2 | g.206144902C>G | CA350056903 | NDUFS1 | c.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 |
2 | g.206144902C>T | CA350056906 | NDUFS1 | c.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 |
2 | g.206144903A>C | CA430952411 | NDUFS1 | c.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=) | |
2 | g.206144903A>G | CA430952413 | NDUFS1 | c.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=) | |
2 | g.206144903A>T | CA430952416 | NDUFS1 | c.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=) | |
2 | g.206144904G>A | CA350056912 | NDUFS1 | c.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) | |
2 | g.206144904G>C | CA325322 | NDUFS1 | c.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 |
2 | g.206144904G= | CA2496487363 | NDUFS1 | c.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=) | |
2 | g.206144904G>T | CA350056918 | NDUFS1 | c.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) | |
2 | g.206144905A>C | CA350056924 | NDUFS1 | c.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) | |
2 | g.206144905A>G | CA350056926 | NDUFS1 | c.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) | |
2 | g.206144905A>T | CA350056929 | NDUFS1 | c.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) | |
2 | g.206144906G>A | CA430952431 | NDUFS1 | c.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 |
2 | g.206144906G>C | CA350056932 | NDUFS1 | c.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) | |
2 | g.206144906G>T | CA430952435 | NDUFS1 | c.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=) | |
2 | g.206144907A>C | CA350056933 | NDUFS1 | c.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) | |
2 | g.206144907A>G | CA350056935 | NDUFS1 | c.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 |
2 | g.206144907A>T | CA350056934 | NDUFS1 | c.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) | |
2 | g.206144908T>A | CA350056940 | NDUFS1 | c.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) | |
2 | g.206144908T>C | CA350056945 | NDUFS1 | c.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 |
2 | g.206144908T>G | CA350056943 | NDUFS1 | c.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) | |
2 | g.206144909C>A | CA350056949 | NDUFS1 | c.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) | |
2 | g.206144909C>G | CA350056955 | NDUFS1 | c.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) | |
2 | g.206144909C>T | CA350056963 | NDUFS1 | c.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) | |
2 | g.206144909_206144910del | CA2662803882 | NDUFS1 | c.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 |
2 | g.206144910C>A | CA350056966 | NDUFS1 | c.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 |
2 | g.206144910C>G | CA350056969 | NDUFS1 | c.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) | |
2 | g.206144910C>T | CA350056971 | NDUFS1 | c.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) | |
2 | g.206144911A>C | CA350056974 | NDUFS1 | c.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) | |
2 | g.206144911A>G | CA350056976 | NDUFS1 | c.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) | |
2 | g.206144911A>T | CA350056979 | NDUFS1 | c.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) | |
2 | g.206144912del | CA2662803883 | NDUFS1 | c.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 |
2 | g.206144912C>A | CA350056983 | NDUFS1 | c.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) | |
2 | g.206144912C>G | CA350056986 | NDUFS1 | c.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) | |
2 | g.206144912C>T | CA430952523 | NDUFS1 | c.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=) | |
2 | g.206144913T>A | CA350056996 | NDUFS1 | c.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) | |
2 | g.206144913T>C | CA350056992 | NDUFS1 | c.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) | |
2 | g.206144913T>G | CA350056993 | NDUFS1 | c.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) | |
2 | g.206144914C>A | CA350057001 | NDUFS1 | c.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) | |
2 | g.206144914C>G | CA350057004 | NDUFS1 | c.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) | |
2 | g.206144914C>T | CA350057006 | NDUFS1 | c.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) | |
2 | g.206144915T>A | CA350057011 | NDUFS1 | c.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) | |
2 | g.206144915T>C | CA430952551 | NDUFS1 | c.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=) | |
2 | g.206144915T>G | CA2070646 | NDUFS1 | c.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 |
2 | g.206144915T= | CA2496487364 | NDUFS1 | c.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=) | |
2 | g.206144916T>A | CA350057017 | NDUFS1 | c.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) | |
2 | g.206144916T>C | CA350057021 | NDUFS1 | c.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) | |
2 | g.206144916T>G | CA350057024 | NDUFS1 | c.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) | |
2 | g.206144917C>A | CA350057027 | NDUFS1 | c.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) | |
2 | g.206144917C>G | CA350057030 | NDUFS1 | c.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) | |
2 | g.206144917C>T | CA350057031 | NDUFS1 | c.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 |
2 | g.206144918A>C | CA350057037 | NDUFS1 | c.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) | |
2 | g.206144918A>G | CA430952574 | NDUFS1 | c.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=) | |
2 | g.206144918A>T | CA350057035 | NDUFS1 | c.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) | |
2 | g.206144919T>A | CA350057041 | NDUFS1 | c.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 |
2 | g.206144919T>C | CA350057045 | NDUFS1 | c.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 |
2 | g.206144919T>G | CA350057048 | NDUFS1 | c.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) | |
2 | g.206144919T= | CA2496487365 | NDUFS1 | c.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=) | |
2 | g.206144920T>A | CA350057052 | NDUFS1 | c.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) | |
2 | g.206144920T>C | CA63665020 | NDUFS1 | c.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 |
2 | g.206144920T>G | CA350057057 | NDUFS1 | c.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) | |
2 | g.206144920T= | CA2496487366 | NDUFS1 | c.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=) | |
2 | g.206144921G>A | CA430952606 | NDUFS1 | c.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 |
2 | g.206144921G>C | CA350057061 | NDUFS1 | c.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) | |
2 | g.206144921G>T | CA430952612 | NDUFS1 | c.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=) | |
2 | g.206144922A>C | CA350057071 | NDUFS1 | c.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) | |
2 | g.206144922A>G | CA350057074 | NDUFS1 | c.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) | |
2 | g.206144922A>T | CA350057077 | NDUFS1 | c.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) | |
2 | g.206144923T>A | CA350057080 | NDUFS1 | c.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) | |
2 | g.206144923T>C | CA350057083 | NDUFS1 | c.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 |
2 | g.206144923T>G | CA350057087 | NDUFS1 | c.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) | |
2 | g.206144923T= | CA2496487367 | NDUFS1 | c.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=) | |
2 | g.206144924G>A | CA430952630 | NDUFS1 | c.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 |
2 | g.206144924G>C | CA350057103 | NDUFS1 | c.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) | |
2 | g.206144924G= | CA2496487368 | NDUFS1 | c.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=) | |
2 | g.206144924G>T | CA350057096 | NDUFS1 | c.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) | |
2 | g.206144925T>A | CA350057106 | NDUFS1 | c.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) | |
2 | g.206144925T>C | CA350057109 | NDUFS1 | c.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 |
2 | g.206144925T>G | CA350057111 | NDUFS1 | c.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) | |
2 | g.206144926C>A | CA350057113 | NDUFS1 | c.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) | |
2 | g.206144926C>G | CA350057114 | NDUFS1 | c.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) | |
2 | g.206144926C>T | CA350057115 | NDUFS1 | c.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) | |
2 | g.206144927C>A | CA350057119 | NDUFS1 | c.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) | |
2 | g.206144927C= | CA2496487369 | NDUFS1 | c.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=) | |
2 | g.206144927C>G | CA350057121 | NDUFS1 | c.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) | |
2 | g.206144927C>T | CA430952677 | NDUFS1 | c.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 |
2 | g.206144928T>A | CA350057126 | NDUFS1 | c.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) | |
2 | g.206144928T>C | CA350057131 | NDUFS1 | c.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) | |
2 | g.206144928T>G | CA350057134 | NDUFS1 | c.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) | |
2 | g.206144929C>A | CA350057138 | NDUFS1 | c.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) | |
2 | g.206144929C>G | CA350057144 | NDUFS1 | c.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) | |
2 | g.206144929C>T | CA350057146 | NDUFS1 | c.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) | |
2 | g.206144930A>C | CA350057158 | NDUFS1 | c.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) | |
2 | g.206144930A>G | CA430952700 | NDUFS1 | c.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=) | |
2 | g.206144930A>T | CA350057150 | NDUFS1 | c.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) | |
2 | g.206144931T>A | CA350057162 | NDUFS1 | c.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) | |
2 | g.206144931T>C | CA2070647 | NDUFS1 | c.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 |
2 | g.206144931T>G | CA350057165 | NDUFS1 | c.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 |
2 | g.206144931T= | CA2496487370 | NDUFS1 | c.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=) | |
2 | g.206144932G>A | CA350057170 | NDUFS1 | c.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) | |
2 | g.206144932G>C | CA350057175 | NDUFS1 | c.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) | |
2 | g.206144932G>T | CA350057173 | NDUFS1 | c.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) | |
2 | g.206144933C>A | CA350057177 | NDUFS1 | c.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) | |
2 | g.206144933C= | CA2496487371 | NDUFS1 | c.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=) | |
2 | g.206144933C>G | CA350057180 | NDUFS1 | c.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) | |
2 | g.206144933C>T | CA350057182 | NDUFS1 | c.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 |
2 | g.206144934A= | CA2496487372 | NDUFS1 | c.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=) | |
2 | g.206144934A>C | CA2070648 | NDUFS1 | c.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 |
2 | g.206144934A>G | CA63665026 | NDUFS1 | c.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 |
2 | g.206144934A>T | CA350057190 | NDUFS1 | c.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) | |
2 | g.206144935T>A | CA350057201 | NDUFS1 | c.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 |
2 | g.206144935T>C | CA350057204 | NDUFS1 | c.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) | |
2 | g.206144935T>G | CA350057207 | NDUFS1 | c.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) | |
2 | g.206144936A>C | CA430952780 | NDUFS1 | c.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=) | |
2 | g.206144936A>G | CA430952781 | NDUFS1 | c.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=) | |
2 | g.206144936A>T | CA430952782 | NDUFS1 | c.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=) | |
2 | g.206144937C>A | CA350057213 | NDUFS1 | c.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) | |
2 | g.206144937C= | CA2496487373 | NDUFS1 | c.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=) | |
2 | g.206144937C>G | CA350057215 | NDUFS1 | c.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) | |
2 | g.206144937C>T | CA2070649 | NDUFS1 | c.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 |
2 | g.206144938G>A | CA2070650 | NDUFS1 | c.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 |
2 | g.206144938G>C | CA350057221 | NDUFS1 | c.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) | |
2 | g.206144938G= | CA2496487374 | NDUFS1 | c.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=) | |
2 | g.206144938G>T | CA350057224 | NDUFS1 | c.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) | |
2 | g.206144939T>A | CA430952800 | NDUFS1 | c.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=) | |
2 | g.206144939T>C | CA430952803 | NDUFS1 | c.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 |
2 | g.206144939T>G | CA430952807 | NDUFS1 | c.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=) | |
2 | g.206144939T= | CA2496487375 | NDUFS1 | c.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=) | |
2 | g.206144940G>A | CA350057235 | NDUFS1 | c.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) | |
2 | g.206144940G>C | CA350057238 | NDUFS1 | c.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) | |
2 | g.206144940G>T | CA350057240 | NDUFS1 | c.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) | |
2 | g.206144941G>A | CA350057244 | NDUFS1 | c.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 |
2 | g.206144941G>C | CA350057246 | NDUFS1 | c.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) | |
2 | g.206144941G>T | CA350057247 | NDUFS1 | c.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) | |
2 | g.206144942C>A | CA350057248 | NDUFS1 | c.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) | |
2 | g.206144942C= | CA2496487376 | NDUFS1 | c.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=) | |
2 | g.206144942C>G | CA350057251 | NDUFS1 | c.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 |
2 | g.206144942C>T | CA430952833 | NDUFS1 | c.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 |
2 | g.206144943A>C | CA350057253 | NDUFS1 | c.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) | |
2 | g.206144943A>G | CA350057254 | NDUFS1 | c.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) | |
2 | g.206144943A>T | CA350057257 | NDUFS1 | c.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) | |
2 | g.206144944A= | CA2496487377 | NDUFS1 | c.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=) | |
2 | g.206144944A>C | CA350057273 | NDUFS1 | c.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) | |
2 | g.206144944A>G | CA430952861 | NDUFS1 | c.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 |
2 | g.206144944A>T | CA350057262 | NDUFS1 | c.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) | |
2 | g.206144945A>C | CA350057275 | NDUFS1 | c.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) | |
2 | g.206144945A>G | CA430952870 | NDUFS1 | c.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=) | |
2 | g.206144945A>T | CA430952871 | NDUFS1 | c.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=) | |
2 | g.206144946A= | CA2496487378 | NDUFS1 | c.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=) | |
2 | g.206144946A>C | CA350057278 | NDUFS1 | c.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 |
2 | g.206144946A>G | CA350057281 | NDUFS1 | c.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 |
2 | g.206144946A>T | CA350057283 | NDUFS1 | c.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) | |
2 | g.206144947T>A | CA350057291 | NDUFS1 | c.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) | |
2 | g.206144947T>C | CA350057299 | NDUFS1 | c.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 |
2 | g.206144947T>G | CA350057302 | NDUFS1 | c.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) | |
2 | g.206144947T= | CA2496487379 | NDUFS1 | c.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=) | |
2 | g.206144949_206144951del | CA2662803886 | NDUFS1 | c.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 |
2 | g.206144948C>A | CA350057306 | NDUFS1 | c.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) | |
2 | g.206144948C>G | CA350057307 | NDUFS1 | c.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) | |
2 | g.206144948C>T | CA430952891 | NDUFS1 | c.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=) | |
2 | g.206144949C>A | CA350057309 | NDUFS1 | c.815G>T (p.Arg272Met) c.644G>T (p.Arg215Met) c.482G>T (p.Arg161Met) c.707G>T (p.Arg236Met) c.857G>T (p.Arg286Met) c.467G>T (p.Arg156Met) c.56G>T (p.Arg19Met) | |
2 | g.206144949C= | CA2496487380 | NDUFS1 | c.815G= (p.Arg272=) c.644G= (p.Arg215=) c.482G= (p.Arg161=) c.707G= (p.Arg236=) c.857G= (p.Arg286=) c.467G= (p.Arg156=) c.56G= (p.Arg19=) | |
2 | g.206144949C>G | CA350057311 | NDUFS1 | c.815G>C (p.Arg272Thr) c.644G>C (p.Arg215Thr) c.482G>C (p.Arg161Thr) c.707G>C (p.Arg236Thr) c.857G>C (p.Arg286Thr) c.467G>C (p.Arg156Thr) c.56G>C (p.Arg19Thr) | |
2 | g.206144949C>T | CA350057314 | NDUFS1 | c.815G>A (p.Arg272Lys) c.644G>A (p.Arg215Lys) c.482G>A (p.Arg161Lys) c.707G>A (p.Arg236Lys) c.857G>A (p.Arg286Lys) c.467G>A (p.Arg156Lys) c.56G>A (p.Arg19Lys) | dbSNP gnomAD v4 |
2 | g.206144950T>A | CA350057317 | NDUFS1 | c.814A>T (p.Arg272Trp) c.643A>T (p.Arg215Trp) c.481A>T (p.Arg161Trp) c.706A>T (p.Arg236Trp) c.856A>T (p.Arg286Trp) c.466A>T (p.Arg156Trp) c.55A>T (p.Arg19Trp) | |
2 | g.206144950T>C | CA350057319 | NDUFS1 | c.814A>G (p.Arg272Gly) c.643A>G (p.Arg215Gly) c.481A>G (p.Arg161Gly) c.706A>G (p.Arg236Gly) c.856A>G (p.Arg286Gly) c.466A>G (p.Arg156Gly) c.55A>G (p.Arg19Gly) | |
2 | g.206144950T>G | CA430952923 | NDUFS1 | c.814A>C (p.Arg272=) c.643A>C (p.Arg215=) c.481A>C (p.Arg161=) c.706A>C (p.Arg236=) c.856A>C (p.Arg286=) c.466A>C (p.Arg156=) c.55A>C (p.Arg19=) | |
2 | g.206144951C>A | CA2070651 | NDUFS1 | c.813G>T (p.Met271Ile) c.642G>T (p.Met214Ile) c.480G>T (p.Met160Ile) c.705G>T (p.Met235Ile) c.855G>T (p.Met285Ile) c.465G>T (p.Met155Ile) c.54G>T (p.Met18Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206144951C= | CA2496487381 | NDUFS1 | c.813G= (p.Met271=) c.642G= (p.Met214=) c.480G= (p.Met160=) c.705G= (p.Met235=) c.855G= (p.Met285=) c.465G= (p.Met155=) c.54G= (p.Met18=) | |
2 | g.206144951C>G | CA350057331 | NDUFS1 | c.813G>C (p.Met271Ile) c.642G>C (p.Met214Ile) c.480G>C (p.Met160Ile) c.705G>C (p.Met235Ile) c.855G>C (p.Met285Ile) c.465G>C (p.Met155Ile) c.54G>C (p.Met18Ile) | |
2 | g.206144951C>T | CA350057328 | NDUFS1 | c.813G>A (p.Met271Ile) c.642G>A (p.Met214Ile) c.480G>A (p.Met160Ile) c.705G>A (p.Met235Ile) c.855G>A (p.Met285Ile) c.465G>A (p.Met155Ile) c.54G>A (p.Met18Ile) | |
2 | g.206144952A= | CA2496487382 | NDUFS1 | c.812T= (p.Met271=) c.641T= (p.Met214=) c.479T= (p.Met160=) c.704T= (p.Met235=) c.854T= (p.Met285=) c.464T= (p.Met155=) c.53T= (p.Met18=) | |
2 | g.206144952A>C | CA350057332 | NDUFS1 | c.812T>G (p.Met271Arg) c.641T>G (p.Met214Arg) c.479T>G (p.Met160Arg) c.704T>G (p.Met235Arg) c.854T>G (p.Met285Arg) c.464T>G (p.Met155Arg) c.53T>G (p.Met18Arg) | |
2 | g.206144952A>G | CA2070652 | NDUFS1 | c.812T>C (p.Met271Thr) c.641T>C (p.Met214Thr) c.479T>C (p.Met160Thr) c.704T>C (p.Met235Thr) c.854T>C (p.Met285Thr) c.464T>C (p.Met155Thr) c.53T>C (p.Met18Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206144952A>T | CA350057333 | NDUFS1 | c.812T>A (p.Met271Lys) c.641T>A (p.Met214Lys) c.479T>A (p.Met160Lys) c.704T>A (p.Met235Lys) c.854T>A (p.Met285Lys) c.464T>A (p.Met155Lys) c.53T>A (p.Met18Lys) | |
2 | g.206144953T>A | CA350057334 | NDUFS1 | c.811A>T (p.Met271Leu) c.640A>T (p.Met214Leu) c.478A>T (p.Met160Leu) c.703A>T (p.Met235Leu) c.853A>T (p.Met285Leu) c.463A>T (p.Met155Leu) c.52A>T (p.Met18Leu) | |
2 | g.206144953T>C | CA350057336 | NDUFS1 | c.811A>G (p.Met271Val) c.640A>G (p.Met214Val) c.478A>G (p.Met160Val) c.703A>G (p.Met235Val) c.853A>G (p.Met285Val) c.463A>G (p.Met155Val) c.52A>G (p.Met18Val) | gnomAD v4 |
2 | g.206144953T>G | CA350057338 | NDUFS1 | c.811A>C (p.Met271Leu) c.640A>C (p.Met214Leu) c.478A>C (p.Met160Leu) c.703A>C (p.Met235Leu) c.853A>C (p.Met285Leu) c.463A>C (p.Met155Leu) c.52A>C (p.Met18Leu) | |
2 | g.206144954C>A | CA430952954 | NDUFS1 | c.810G>T (p.Val270=) c.639G>T (p.Val213=) c.477G>T (p.Val159=) c.702G>T (p.Val234=) c.852G>T (p.Val284=) c.462G>T (p.Val154=) c.51G>T (p.Val17=) | |
2 | g.206144954C>G | CA430952958 | NDUFS1 | c.810G>C (p.Val270=) c.639G>C (p.Val213=) c.477G>C (p.Val159=) c.702G>C (p.Val234=) c.852G>C (p.Val284=) c.462G>C (p.Val154=) c.51G>C (p.Val17=) | |
2 | g.206144954C>T | CA430952962 | NDUFS1 | c.810G>A (p.Val270=) c.639G>A (p.Val213=) c.477G>A (p.Val159=) c.702G>A (p.Val234=) c.852G>A (p.Val284=) c.462G>A (p.Val154=) c.51G>A (p.Val17=) |