Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.132175410G>T | CA2688627381 | KCNQ3 | c.933+43C>A (n.933+43C>A) c.573+43C>A (n.573+43C>A) c.606+43C>A (n.606+43C>A) c.583+43C>A n.711+43C>A c.570+43C>A (n.570+43C>A) c.-224+43C>A (n.-224+43C>A) c.225+43C>A (n.225+43C>A) c.711+43C>A (n.711+43C>A) | gnomAD v4 |
8 | g.132175411A>G | CA2688627382 | KCNQ3 | c.933+42T>C (n.933+42T>C) c.573+42T>C (n.573+42T>C) c.606+42T>C (n.606+42T>C) c.583+42T>C n.711+42T>C c.570+42T>C (n.570+42T>C) c.-224+42T>C (n.-224+42T>C) c.225+42T>C (n.225+42T>C) c.711+42T>C (n.711+42T>C) | gnomAD v4 |
8 | g.132175412C= | CA1820664494 | KCNQ3 | c.933+41G= (n.933+41G=) c.573+41G= (n.573+41G=) c.606+41G= (n.606+41G=) c.583+41G= n.711+41G= c.570+41G= (n.570+41G=) c.-224+41G= (n.-224+41G=) c.225+41G= (n.225+41G=) c.711+41G= (n.711+41G=) | |
8 | g.132175412C>G | CA186223481 | KCNQ3 | c.933+41G>C (n.933+41G>C) c.573+41G>C (n.573+41G>C) c.606+41G>C (n.606+41G>C) c.583+41G>C n.711+41G>C c.570+41G>C (n.570+41G>C) c.-224+41G>C (n.-224+41G>C) c.225+41G>C (n.225+41G>C) c.711+41G>C (n.711+41G>C) | dbSNP |
8 | g.132175412C>T | CA2688627383 | KCNQ3 | c.933+41G>A (n.933+41G>A) c.573+41G>A (n.573+41G>A) c.606+41G>A (n.606+41G>A) c.583+41G>A n.711+41G>A c.570+41G>A (n.570+41G>A) c.-224+41G>A (n.-224+41G>A) c.225+41G>A (n.225+41G>A) c.711+41G>A (n.711+41G>A) | gnomAD v4 |
8 | g.132175413A= | CA1820664495 | KCNQ3 | c.933+40T= (n.933+40T=) c.573+40T= (n.573+40T=) c.606+40T= (n.606+40T=) c.583+40T= n.711+40T= c.570+40T= (n.570+40T=) c.-224+40T= (n.-224+40T=) c.225+40T= (n.225+40T=) c.711+40T= (n.711+40T=) | |
8 | g.132175413A>C | CA4880811 | KCNQ3 | c.933+40T>G (n.933+40T>G) c.573+40T>G (n.573+40T>G) c.606+40T>G (n.606+40T>G) c.583+40T>G n.711+40T>G c.570+40T>G (n.570+40T>G) c.-224+40T>G (n.-224+40T>G) c.225+40T>G (n.225+40T>G) c.711+40T>G (n.711+40T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.132175414G>A | CA4880812 | KCNQ3 | c.933+39C>T (n.933+39C>T) c.573+39C>T (n.573+39C>T) c.606+39C>T (n.606+39C>T) c.583+39C>T n.711+39C>T c.570+39C>T (n.570+39C>T) c.-224+39C>T (n.-224+39C>T) c.225+39C>T (n.225+39C>T) c.711+39C>T (n.711+39C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.132175414G= | CA1820664496 | KCNQ3 | c.933+39C= (n.933+39C=) c.573+39C= (n.573+39C=) c.606+39C= (n.606+39C=) c.583+39C= n.711+39C= c.570+39C= (n.570+39C=) c.-224+39C= (n.-224+39C=) c.225+39C= (n.225+39C=) c.711+39C= (n.711+39C=) | |
8 | g.132175415T>C | CA2688627384 | KCNQ3 | c.933+38A>G (n.933+38A>G) c.573+38A>G (n.573+38A>G) c.606+38A>G (n.606+38A>G) c.583+38A>G n.711+38A>G c.570+38A>G (n.570+38A>G) c.-224+38A>G (n.-224+38A>G) c.225+38A>G (n.225+38A>G) c.711+38A>G (n.711+38A>G) | gnomAD v4 |
8 | g.132175416C>A | CA2688627385 | KCNQ3 | c.933+37G>T (n.933+37G>T) c.573+37G>T (n.573+37G>T) c.606+37G>T (n.606+37G>T) c.583+37G>T n.711+37G>T c.570+37G>T (n.570+37G>T) c.-224+37G>T (n.-224+37G>T) c.225+37G>T (n.225+37G>T) c.711+37G>T (n.711+37G>T) | gnomAD v4 |
8 | g.132175416C= | CA1820664497 | KCNQ3 | c.933+37G= (n.933+37G=) c.573+37G= (n.573+37G=) c.606+37G= (n.606+37G=) c.583+37G= n.711+37G= c.570+37G= (n.570+37G=) c.-224+37G= (n.-224+37G=) c.225+37G= (n.225+37G=) c.711+37G= (n.711+37G=) | |
8 | g.132175416C>T | CA847634684 | KCNQ3 | c.933+37G>A (n.933+37G>A) c.573+37G>A (n.573+37G>A) c.606+37G>A (n.606+37G>A) c.583+37G>A n.711+37G>A c.570+37G>A (n.570+37G>A) c.-224+37G>A (n.-224+37G>A) c.225+37G>A (n.225+37G>A) c.711+37G>A (n.711+37G>A) | dbSNP gnomAD v4 |
8 | g.132175417A>G | CA2688627386 | KCNQ3 | c.933+36T>C (n.933+36T>C) c.573+36T>C (n.573+36T>C) c.606+36T>C (n.606+36T>C) c.583+36T>C n.711+36T>C c.570+36T>C (n.570+36T>C) c.-224+36T>C (n.-224+36T>C) c.225+36T>C (n.225+36T>C) c.711+36T>C (n.711+36T>C) | gnomAD v4 |
8 | g.132175418A>G | CA2688627387 | KCNQ3 | c.933+35T>C (n.933+35T>C) c.573+35T>C (n.573+35T>C) c.606+35T>C (n.606+35T>C) c.583+35T>C n.711+35T>C c.570+35T>C (n.570+35T>C) c.-224+35T>C (n.-224+35T>C) c.225+35T>C (n.225+35T>C) c.711+35T>C (n.711+35T>C) | gnomAD v4 |
8 | g.132175418A>T | CA2507990164 | KCNQ3 | c.933+35T>A (n.933+35T>A) c.573+35T>A (n.573+35T>A) c.606+35T>A (n.606+35T>A) c.583+35T>A n.711+35T>A c.570+35T>A (n.570+35T>A) c.-224+35T>A (n.-224+35T>A) c.225+35T>A (n.225+35T>A) c.711+35T>A (n.711+35T>A) | |
8 | g.132175420C>A | CA2782246929 | KCNQ3 | c.933+33G>T (n.933+33G>T) c.573+33G>T (n.573+33G>T) c.606+33G>T (n.606+33G>T) c.583+33G>T n.711+33G>T c.570+33G>T (n.570+33G>T) c.-224+33G>T (n.-224+33G>T) c.225+33G>T (n.225+33G>T) c.711+33G>T (n.711+33G>T) | |
8 | g.132175420C>T | CA2688627388 | KCNQ3 | c.933+33G>A (n.933+33G>A) c.573+33G>A (n.573+33G>A) c.606+33G>A (n.606+33G>A) c.583+33G>A n.711+33G>A c.570+33G>A (n.570+33G>A) c.-224+33G>A (n.-224+33G>A) c.225+33G>A (n.225+33G>A) c.711+33G>A (n.711+33G>A) | gnomAD v4 |
8 | g.132175421T>C | CA4880813 | KCNQ3 | c.933+32A>G (n.933+32A>G) c.573+32A>G (n.573+32A>G) c.606+32A>G (n.606+32A>G) c.583+32A>G n.711+32A>G c.570+32A>G (n.570+32A>G) c.-224+32A>G (n.-224+32A>G) c.225+32A>G (n.225+32A>G) c.711+32A>G (n.711+32A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.132175421T= | CA1820664498 | KCNQ3 | c.933+32A= (n.933+32A=) c.573+32A= (n.573+32A=) c.606+32A= (n.606+32A=) c.583+32A= n.711+32A= c.570+32A= (n.570+32A=) c.-224+32A= (n.-224+32A=) c.225+32A= (n.225+32A=) c.711+32A= (n.711+32A=) | |
8 | g.132175422C>A | CA585279325 | KCNQ3 | c.933+31G>T (n.933+31G>T) c.573+31G>T (n.573+31G>T) c.606+31G>T (n.606+31G>T) c.583+31G>T n.711+31G>T c.570+31G>T (n.570+31G>T) c.-224+31G>T (n.-224+31G>T) c.225+31G>T (n.225+31G>T) c.711+31G>T (n.711+31G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.132175422C= | CA1820664499 | KCNQ3 | c.933+31G= (n.933+31G=) c.573+31G= (n.573+31G=) c.606+31G= (n.606+31G=) c.583+31G= n.711+31G= c.570+31G= (n.570+31G=) c.-224+31G= (n.-224+31G=) c.225+31G= (n.225+31G=) c.711+31G= (n.711+31G=) | |
8 | g.132175424C>A | CA585279326 | KCNQ3 | c.933+29G>T (n.933+29G>T) c.573+29G>T (n.573+29G>T) c.606+29G>T (n.606+29G>T) c.583+29G>T n.711+29G>T c.570+29G>T (n.570+29G>T) c.-224+29G>T (n.-224+29G>T) c.225+29G>T (n.225+29G>T) c.711+29G>T (n.711+29G>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.132175424C= | CA1820664500 | KCNQ3 | c.933+29G= (n.933+29G=) c.573+29G= (n.573+29G=) c.606+29G= (n.606+29G=) c.583+29G= n.711+29G= c.570+29G= (n.570+29G=) c.-224+29G= (n.-224+29G=) c.225+29G= (n.225+29G=) c.711+29G= (n.711+29G=) | |
8 | g.132175424C>T | CA2579251722 | KCNQ3 | c.933+29G>A (n.933+29G>A) c.573+29G>A (n.573+29G>A) c.606+29G>A (n.606+29G>A) c.583+29G>A n.711+29G>A c.570+29G>A (n.570+29G>A) c.-224+29G>A (n.-224+29G>A) c.225+29G>A (n.225+29G>A) c.711+29G>A (n.711+29G>A) | |
8 | g.132175427A>G | CA2579251723 | KCNQ3 | c.933+26T>C (n.933+26T>C) c.573+26T>C (n.573+26T>C) c.606+26T>C (n.606+26T>C) c.583+26T>C n.711+26T>C c.570+26T>C (n.570+26T>C) c.-224+26T>C (n.-224+26T>C) c.225+26T>C (n.225+26T>C) c.711+26T>C (n.711+26T>C) | |
8 | g.132175427A>T | CA2604844584 | KCNQ3 | c.933+26T>A (n.933+26T>A) c.573+26T>A (n.573+26T>A) c.606+26T>A (n.606+26T>A) c.583+26T>A n.711+26T>A c.570+26T>A (n.570+26T>A) c.-224+26T>A (n.-224+26T>A) c.225+26T>A (n.225+26T>A) c.711+26T>A (n.711+26T>A) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.132175428A= | CA1630835218 | KCNQ3 | c.933+25T= (n.933+25T=) c.573+25T= (n.573+25T=) c.606+25T= (n.606+25T=) c.583+25T= n.711+25T= c.570+25T= (n.570+25T=) c.-224+25T= (n.-224+25T=) c.225+25T= (n.225+25T=) c.711+25T= (n.711+25T=) | |
8 | g.132175428A>C | CA2580849543 | KCNQ3 | c.933+25T>G (n.933+25T>G) c.573+25T>G (n.573+25T>G) c.606+25T>G (n.606+25T>G) c.583+25T>G n.711+25T>G c.570+25T>G (n.570+25T>G) c.-224+25T>G (n.-224+25T>G) c.225+25T>G (n.225+25T>G) c.711+25T>G (n.711+25T>G) | |
8 | g.132175428A>G | CA4880814 | KCNQ3 | c.933+25T>C (n.933+25T>C) c.573+25T>C (n.573+25T>C) c.606+25T>C (n.606+25T>C) c.583+25T>C n.711+25T>C c.570+25T>C (n.570+25T>C) c.-224+25T>C (n.-224+25T>C) c.225+25T>C (n.225+25T>C) c.711+25T>C (n.711+25T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.132175428A>T | CA2580849544 | KCNQ3 | c.933+25T>A (n.933+25T>A) c.573+25T>A (n.573+25T>A) c.606+25T>A (n.606+25T>A) c.583+25T>A n.711+25T>A c.570+25T>A (n.570+25T>A) c.-224+25T>A (n.-224+25T>A) c.225+25T>A (n.225+25T>A) c.711+25T>A (n.711+25T>A) | |
8 | g.132175429T>C | CA2782246933 | KCNQ3 | c.933+24A>G (n.933+24A>G) c.573+24A>G (n.573+24A>G) c.606+24A>G (n.606+24A>G) c.583+24A>G n.711+24A>G c.570+24A>G (n.570+24A>G) c.-224+24A>G (n.-224+24A>G) c.225+24A>G (n.225+24A>G) c.711+24A>G (n.711+24A>G) | |
8 | g.132175431G= | CA1820664501 | KCNQ3 | c.933+22C= (n.933+22C=) c.573+22C= (n.573+22C=) c.606+22C= (n.606+22C=) c.583+22C= n.711+22C= c.570+22C= (n.570+22C=) c.-224+22C= (n.-224+22C=) c.225+22C= (n.225+22C=) c.711+22C= (n.711+22C=) | |
8 | g.132175431G>T | CA1820664502 | KCNQ3 | c.933+22C>A (n.933+22C>A) c.573+22C>A (n.573+22C>A) c.606+22C>A (n.606+22C>A) c.583+22C>A n.711+22C>A c.570+22C>A (n.570+22C>A) c.-224+22C>A (n.-224+22C>A) c.225+22C>A (n.225+22C>A) c.711+22C>A (n.711+22C>A) | dbSNP gnomAD v4 |
8 | g.132175432G>A | CA2688627389 | KCNQ3 | c.933+21C>T (n.933+21C>T) c.573+21C>T (n.573+21C>T) c.606+21C>T (n.606+21C>T) c.583+21C>T n.711+21C>T c.570+21C>T (n.570+21C>T) c.-224+21C>T (n.-224+21C>T) c.225+21C>T (n.225+21C>T) c.711+21C>T (n.711+21C>T) | gnomAD v4 |
8 | g.132175433C>T | CA2782246935 | KCNQ3 | c.933+20G>A (n.933+20G>A) c.573+20G>A (n.573+20G>A) c.606+20G>A (n.606+20G>A) c.583+20G>A n.711+20G>A c.570+20G>A (n.570+20G>A) c.-224+20G>A (n.-224+20G>A) c.225+20G>A (n.225+20G>A) c.711+20G>A (n.711+20G>A) | |
8 | g.132175434C= | CA1820664503 | KCNQ3 | c.933+19G= (n.933+19G=) c.573+19G= (n.573+19G=) c.606+19G= (n.606+19G=) c.583+19G= n.711+19G= c.570+19G= (n.570+19G=) c.-224+19G= (n.-224+19G=) c.225+19G= (n.225+19G=) c.711+19G= (n.711+19G=) | |
8 | g.132175434C>T | CA585279327 | KCNQ3 | c.933+19G>A (n.933+19G>A) c.573+19G>A (n.573+19G>A) c.606+19G>A (n.606+19G>A) c.583+19G>A n.711+19G>A c.570+19G>A (n.570+19G>A) c.-224+19G>A (n.-224+19G>A) c.225+19G>A (n.225+19G>A) c.711+19G>A (n.711+19G>A) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.132175437C= | CA1820664504 | KCNQ3 | c.933+16G= (n.933+16G=) c.573+16G= (n.573+16G=) c.606+16G= (n.606+16G=) c.583+16G= n.711+16G= c.570+16G= (n.570+16G=) c.-224+16G= (n.-224+16G=) c.225+16G= (n.225+16G=) c.711+16G= (n.711+16G=) | |
8 | g.132175437C>T | CA1820664505 | KCNQ3 | c.933+16G>A (n.933+16G>A) c.573+16G>A (n.573+16G>A) c.606+16G>A (n.606+16G>A) c.583+16G>A n.711+16G>A c.570+16G>A (n.570+16G>A) c.-224+16G>A (n.-224+16G>A) c.225+16G>A (n.225+16G>A) c.711+16G>A (n.711+16G>A) | dbSNP |
8 | g.132175438A>G | CA2688627390 | KCNQ3 | c.933+15T>C (n.933+15T>C) c.573+15T>C (n.573+15T>C) c.606+15T>C (n.606+15T>C) c.583+15T>C n.711+15T>C c.570+15T>C (n.570+15T>C) c.-224+15T>C (n.-224+15T>C) c.225+15T>C (n.225+15T>C) c.711+15T>C (n.711+15T>C) | gnomAD v4 |
8 | g.132175441G>A | CA4880815 | KCNQ3 | c.933+12C>T (n.933+12C>T) c.573+12C>T (n.573+12C>T) c.606+12C>T (n.606+12C>T) c.583+12C>T n.711+12C>T c.570+12C>T (n.570+12C>T) c.-224+12C>T (n.-224+12C>T) c.225+12C>T (n.225+12C>T) c.711+12C>T (n.711+12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.132175441G= | CA1820664506 | KCNQ3 | c.933+12C= (n.933+12C=) c.573+12C= (n.573+12C=) c.606+12C= (n.606+12C=) c.583+12C= n.711+12C= c.570+12C= (n.570+12C=) c.-224+12C= (n.-224+12C=) c.225+12C= (n.225+12C=) c.711+12C= (n.711+12C=) | |
8 | g.132175442T>C | CA1119348337 | KCNQ3 | c.933+11A>G (n.933+11A>G) c.573+11A>G (n.573+11A>G) c.606+11A>G (n.606+11A>G) c.583+11A>G n.711+11A>G c.570+11A>G (n.570+11A>G) c.-224+11A>G (n.-224+11A>G) c.225+11A>G (n.225+11A>G) c.711+11A>G (n.711+11A>G) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.132175442T= | CA1820664507 | KCNQ3 | c.933+11A= (n.933+11A=) c.573+11A= (n.573+11A=) c.606+11A= (n.606+11A=) c.583+11A= n.711+11A= c.570+11A= (n.570+11A=) c.-224+11A= (n.-224+11A=) c.225+11A= (n.225+11A=) c.711+11A= (n.711+11A=) | |
8 | g.132175445T>C | CA585279328 | KCNQ3 | c.933+8A>G (n.933+8A>G) c.573+8A>G (n.573+8A>G) c.606+8A>G (n.606+8A>G) c.583+8A>G n.711+8A>G c.570+8A>G (n.570+8A>G) c.-224+8A>G (n.-224+8A>G) c.225+8A>G (n.225+8A>G) c.711+8A>G (n.711+8A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.132175445T= | CA1820664508 | KCNQ3 | c.933+8A= (n.933+8A=) c.573+8A= (n.573+8A=) c.606+8A= (n.606+8A=) c.583+8A= n.711+8A= c.570+8A= (n.570+8A=) c.-224+8A= (n.-224+8A=) c.225+8A= (n.225+8A=) c.711+8A= (n.711+8A=) | |
8 | g.132175446G>A | CA2782246937 | KCNQ3 | c.933+7C>T (n.933+7C>T) c.573+7C>T (n.573+7C>T) c.606+7C>T (n.606+7C>T) c.583+7C>T n.711+7C>T c.570+7C>T (n.570+7C>T) c.-224+7C>T (n.-224+7C>T) c.225+7C>T (n.225+7C>T) c.711+7C>T (n.711+7C>T) | |
8 | g.132175446G>C | CA1820664510 | KCNQ3 | c.933+7C>G (n.933+7C>G) c.573+7C>G (n.573+7C>G) c.606+7C>G (n.606+7C>G) c.583+7C>G n.711+7C>G c.570+7C>G (n.570+7C>G) c.-224+7C>G (n.-224+7C>G) c.225+7C>G (n.225+7C>G) c.711+7C>G (n.711+7C>G) | dbSNP |
8 | g.132175446G= | CA1820664509 | KCNQ3 | c.933+7C= (n.933+7C=) c.573+7C= (n.573+7C=) c.606+7C= (n.606+7C=) c.583+7C= n.711+7C= c.570+7C= (n.570+7C=) c.-224+7C= (n.-224+7C=) c.225+7C= (n.225+7C=) c.711+7C= (n.711+7C=) | |
8 | g.132175446G>T | CA2688627391 | KCNQ3 | c.933+7C>A (n.933+7C>A) c.573+7C>A (n.573+7C>A) c.606+7C>A (n.606+7C>A) c.583+7C>A n.711+7C>A c.570+7C>A (n.570+7C>A) c.-224+7C>A (n.-224+7C>A) c.225+7C>A (n.225+7C>A) c.711+7C>A (n.711+7C>A) | gnomAD v4 |
8 | g.132175450C= | CA1820664511 | KCNQ3 | c.933+3G= (n.933+3G=) c.573+3G= (n.573+3G=) c.606+3G= (n.606+3G=) c.583+3G= n.711+3G= c.570+3G= (n.570+3G=) c.-224+3G= (n.-224+3G=) c.225+3G= (n.225+3G=) c.711+3G= (n.711+3G=) | |
8 | g.132175450C>T | CA186223482 | KCNQ3 | c.933+3G>A (n.933+3G>A) c.573+3G>A (n.573+3G>A) c.606+3G>A (n.606+3G>A) c.583+3G>A n.711+3G>A c.570+3G>A (n.570+3G>A) c.-224+3G>A (n.-224+3G>A) c.225+3G>A (n.225+3G>A) c.711+3G>A (n.711+3G>A) | dbSNP |
8 | g.132175451A>C | CA372290286 | KCNQ3 | c.933+2T>G (n.933+2T>G) c.573+2T>G (n.573+2T>G) c.606+2T>G (n.606+2T>G) c.583+2T>G n.711+2T>G c.570+2T>G (n.570+2T>G) c.-224+2T>G (n.-224+2T>G) c.225+2T>G (n.225+2T>G) c.711+2T>G (n.711+2T>G) | |
8 | g.132175451A>G | CA372290287 | KCNQ3 | c.933+2T>C (n.933+2T>C) c.573+2T>C (n.573+2T>C) c.606+2T>C (n.606+2T>C) c.583+2T>C n.711+2T>C c.570+2T>C (n.570+2T>C) c.-224+2T>C (n.-224+2T>C) c.225+2T>C (n.225+2T>C) c.711+2T>C (n.711+2T>C) | COSMIC |
8 | g.132175451A>T | CA372290288 | KCNQ3 | c.933+2T>A (n.933+2T>A) c.573+2T>A (n.573+2T>A) c.606+2T>A (n.606+2T>A) c.583+2T>A n.711+2T>A c.570+2T>A (n.570+2T>A) c.-224+2T>A (n.-224+2T>A) c.225+2T>A (n.225+2T>A) c.711+2T>A (n.711+2T>A) | |
8 | g.132175452C>A | CA372290289 | KCNQ3 | c.933+1G>T (n.933+1G>T) c.573+1G>T (n.573+1G>T) c.606+1G>T (n.606+1G>T) c.583+1G>T n.711+1G>T c.570+1G>T (n.570+1G>T) c.-224+1G>T (n.-224+1G>T) c.225+1G>T (n.225+1G>T) c.711+1G>T (n.711+1G>T) | gnomAD v4 |
8 | g.132175452C>G | CA372290290 | KCNQ3 | c.933+1G>C (n.933+1G>C) c.573+1G>C (n.573+1G>C) c.606+1G>C (n.606+1G>C) c.583+1G>C n.711+1G>C c.570+1G>C (n.570+1G>C) c.-224+1G>C (n.-224+1G>C) c.225+1G>C (n.225+1G>C) c.711+1G>C (n.711+1G>C) | |
8 | g.132175452C>T | CA372290291 | KCNQ3 | c.933+1G>A (n.933+1G>A) c.573+1G>A (n.573+1G>A) c.606+1G>A (n.606+1G>A) c.583+1G>A n.711+1G>A c.570+1G>A (n.570+1G>A) c.-224+1G>A (n.-224+1G>A) c.225+1G>A (n.225+1G>A) c.711+1G>A (n.711+1G>A) | |
8 | g.132175453C>A | CA463070343 | KCNQ3 | c.933G>T (p.Leu311=) c.573G>T (p.Leu191=) c.606G>T (p.Leu202=) c.583G>T n.711G>T c.570G>T (p.Leu190=) c.-224G>T (n.-224G>T) c.225G>T (p.Leu75=) c.711G>T (p.Leu237=) | |
8 | g.132175453C>G | CA463070344 | KCNQ3 | c.933G>C (p.Leu311=) c.573G>C (p.Leu191=) c.606G>C (p.Leu202=) c.583G>C n.711G>C c.570G>C (p.Leu190=) c.-224G>C (n.-224G>C) c.225G>C (p.Leu75=) c.711G>C (p.Leu237=) | |
8 | g.132175453C>T | CA463070345 | KCNQ3 | c.933G>A (p.Leu311=) c.573G>A (p.Leu191=) c.606G>A (p.Leu202=) c.583G>A n.711G>A c.570G>A (p.Leu190=) c.-224G>A (n.-224G>A) c.225G>A (p.Leu75=) c.711G>A (p.Leu237=) | ClinVar dbSNP |
8 | g.132175454A>C | CA372290292 | KCNQ3 | c.932T>G (p.Leu311Arg) c.572T>G (p.Leu191Arg) c.605T>G (p.Leu202Arg) c.582T>G n.710T>G c.569T>G (p.Leu190Arg) c.-225T>G (n.-225T>G) c.224T>G (p.Leu75Arg) c.710T>G (p.Leu237Arg) | |
8 | g.132175454A>G | CA372290294 | KCNQ3 | c.932T>C (p.Leu311Pro) c.572T>C (p.Leu191Pro) c.605T>C (p.Leu202Pro) c.582T>C n.710T>C c.569T>C (p.Leu190Pro) c.-225T>C (n.-225T>C) c.224T>C (p.Leu75Pro) c.710T>C (p.Leu237Pro) | |
8 | g.132175454A>T | CA372290293 | KCNQ3 | c.932T>A (p.Leu311Gln) c.572T>A (p.Leu191Gln) c.605T>A (p.Leu202Gln) c.582T>A n.710T>A c.569T>A (p.Leu190Gln) c.-225T>A (n.-225T>A) c.224T>A (p.Leu75Gln) c.710T>A (p.Leu237Gln) | |
8 | g.132175455G>A | CA463070346 | KCNQ3 | c.931C>T (p.Leu311=) c.571C>T (p.Leu191=) c.604C>T (p.Leu202=) c.581C>T n.709C>T c.568C>T (p.Leu190=) c.-226C>T (n.-226C>T) c.223C>T (p.Leu75=) c.709C>T (p.Leu237=) | |
8 | g.132175455G>C | CA372290295 | KCNQ3 | c.931C>G (p.Leu311Val) c.571C>G (p.Leu191Val) c.604C>G (p.Leu202Val) c.581C>G n.709C>G c.568C>G (p.Leu190Val) c.-226C>G (n.-226C>G) c.223C>G (p.Leu75Val) c.709C>G (p.Leu237Val) | |
8 | g.132175455G>T | CA372290296 | KCNQ3 | c.931C>A (p.Leu311Met) c.571C>A (p.Leu191Met) c.604C>A (p.Leu202Met) c.581C>A n.709C>A c.568C>A (p.Leu190Met) c.-226C>A (n.-226C>A) c.223C>A (p.Leu75Met) c.709C>A (p.Leu237Met) | |
8 | g.132175456G>A | CA463070349 | KCNQ3 | c.930C>T (p.Gly310=) c.570C>T (p.Gly190=) c.603C>T (p.Gly201=) c.580C>T n.708C>T c.567C>T (p.Gly189=) c.-227C>T (n.-227C>T) c.222C>T (p.Gly74=) c.708C>T (p.Gly236=) | gnomAD v4 COSMIC |
8 | g.132175456G>C | CA463070348 | KCNQ3 | c.930C>G (p.Gly310=) c.570C>G (p.Gly190=) c.603C>G (p.Gly201=) c.580C>G n.708C>G c.567C>G (p.Gly189=) c.-227C>G (n.-227C>G) c.222C>G (p.Gly74=) c.708C>G (p.Gly236=) | |
8 | g.132175456G>T | CA463070347 | KCNQ3 | c.930C>A (p.Gly310=) c.570C>A (p.Gly190=) c.603C>A (p.Gly201=) c.580C>A n.708C>A c.567C>A (p.Gly189=) c.-227C>A (n.-227C>A) c.222C>A (p.Gly74=) c.708C>A (p.Gly236=) | |
8 | g.132175457C>A | CA340677 | KCNQ3 | c.929G>T (p.Gly310Val) c.569G>T (p.Gly190Val) c.602G>T (p.Gly201Val) c.579G>T n.707G>T c.566G>T (p.Gly189Val) c.-228G>T (n.-228G>T) c.221G>T (p.Gly74Val) c.707G>T (p.Gly236Val) | ClinVar dbSNP |
8 | g.132175457C= | CA1820664512 | KCNQ3 | c.929G= (p.Gly310=) c.569G= (p.Gly190=) c.602G= (p.Gly201=) c.579G= n.707G= c.566G= (p.Gly189=) c.-228G= (n.-228G=) c.221G= (p.Gly74=) c.707G= (p.Gly236=) | |
8 | g.132175457C>G | CA372290297 | KCNQ3 | c.929G>C (p.Gly310Ala) c.569G>C (p.Gly190Ala) c.602G>C (p.Gly201Ala) c.579G>C n.707G>C c.566G>C (p.Gly189Ala) c.-228G>C (n.-228G>C) c.221G>C (p.Gly74Ala) c.707G>C (p.Gly236Ala) | |
8 | g.132175457C>T | CA372290298 | KCNQ3 | c.929G>A (p.Gly310Asp) c.569G>A (p.Gly190Asp) c.602G>A (p.Gly201Asp) c.579G>A n.707G>A c.566G>A (p.Gly189Asp) c.-228G>A (n.-228G>A) c.221G>A (p.Gly74Asp) c.707G>A (p.Gly236Asp) | ClinVar dbSNP |
8 | g.132175458C>A | CA372290299 | KCNQ3 | c.928G>T (p.Gly310Cys) c.568G>T (p.Gly190Cys) c.601G>T (p.Gly201Cys) c.578G>T n.706G>T c.565G>T (p.Gly189Cys) c.-229G>T (n.-229G>T) c.220G>T (p.Gly74Cys) c.706G>T (p.Gly236Cys) | |
8 | g.132175458C>G | CA372290300 | KCNQ3 | c.928G>C (p.Gly310Arg) c.568G>C (p.Gly190Arg) c.601G>C (p.Gly201Arg) c.578G>C n.706G>C c.565G>C (p.Gly189Arg) c.-229G>C (n.-229G>C) c.220G>C (p.Gly74Arg) c.706G>C (p.Gly236Arg) | COSMIC |
8 | g.132175458C>T | CA372290301 | KCNQ3 | c.928G>A (p.Gly310Ser) c.568G>A (p.Gly190Ser) c.601G>A (p.Gly201Ser) c.578G>A n.706G>A c.565G>A (p.Gly189Ser) c.-229G>A (n.-229G>A) c.220G>A (p.Gly74Ser) c.706G>A (p.Gly236Ser) | |
8 | g.132175459C>A | CA372290302 | KCNQ3 | c.927G>T (p.Trp309Cys) c.567G>T (p.Trp189Cys) c.600G>T (p.Trp200Cys) c.577G>T n.705G>T c.564G>T (p.Trp188Cys) c.-230G>T (n.-230G>T) c.219G>T (p.Trp73Cys) c.705G>T (p.Trp235Cys) | |
8 | g.132175459C>G | CA372290303 | KCNQ3 | c.927G>C (p.Trp309Cys) c.567G>C (p.Trp189Cys) c.600G>C (p.Trp200Cys) c.577G>C n.705G>C c.564G>C (p.Trp188Cys) c.-230G>C (n.-230G>C) c.219G>C (p.Trp73Cys) c.705G>C (p.Trp235Cys) | |
8 | g.132175459C>T | CA372290304 | KCNQ3 | c.927G>A (p.Trp309Ter) c.567G>A (p.Trp189Ter) c.600G>A (p.Trp200Ter) c.577G>A n.705G>A c.564G>A (p.Trp188Ter) c.-230G>A (n.-230G>A) c.219G>A (p.Trp73Ter) c.705G>A (p.Trp235Ter) | |
8 | g.132175459_132175460delinsTT | CA645546527 | KCNQ3 | c.926_927delinsAA (p.Trp309Ter) c.566_567delinsAA (p.Trp189Ter) c.599_600delinsAA (p.Trp200Ter) c.576_577delinsAA n.704_705delinsAA c.563_564delinsAA (p.Trp188Ter) c.-231_-230delinsAA (n.-231_-230delinsAA) c.218_219delinsAA (p.Trp73Ter) c.704_705delinsAA (p.Trp235Ter) | COSMIC |
8 | g.132175460C>A | CA372290305 | KCNQ3 | c.926G>T (p.Trp309Leu) c.566G>T (p.Trp189Leu) c.599G>T (p.Trp200Leu) c.576G>T n.704G>T c.563G>T (p.Trp188Leu) c.-231G>T (n.-231G>T) c.218G>T (p.Trp73Leu) c.704G>T (p.Trp235Leu) | |
8 | g.132175460C>G | CA372290307 | KCNQ3 | c.926G>C (p.Trp309Ser) c.566G>C (p.Trp189Ser) c.599G>C (p.Trp200Ser) c.576G>C n.704G>C c.563G>C (p.Trp188Ser) c.-231G>C (n.-231G>C) c.218G>C (p.Trp73Ser) c.704G>C (p.Trp235Ser) | |
8 | g.132175460C>T | CA372290306 | KCNQ3 | c.926G>A (p.Trp309Ter) c.566G>A (p.Trp189Ter) c.599G>A (p.Trp200Ter) c.576G>A n.704G>A c.563G>A (p.Trp188Ter) c.-231G>A (n.-231G>A) c.218G>A (p.Trp73Ter) c.704G>A (p.Trp235Ter) | gnomAD v4 |
8 | g.132175461A= | CA1820664513 | KCNQ3 | c.925T= (p.Trp309=) c.565T= (p.Trp189=) c.598T= (p.Trp200=) c.575T= n.703T= c.562T= (p.Trp188=) c.-232T= (n.-232T=) c.217T= (p.Trp73=) c.703T= (p.Trp235=) | |
8 | g.132175461A>C | CA372290308 | KCNQ3 | c.925T>G (p.Trp309Gly) c.565T>G (p.Trp189Gly) c.598T>G (p.Trp200Gly) c.575T>G n.703T>G c.562T>G (p.Trp188Gly) c.-232T>G (n.-232T>G) c.217T>G (p.Trp73Gly) c.703T>G (p.Trp235Gly) | |
8 | g.132175461A>G | CA342042 | KCNQ3 | c.925T>C (p.Trp309Arg) c.565T>C (p.Trp189Arg) c.598T>C (p.Trp200Arg) c.575T>C n.703T>C c.562T>C (p.Trp188Arg) c.-232T>C (n.-232T>C) c.217T>C (p.Trp73Arg) c.703T>C (p.Trp235Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.132175461A>T | CA372290309 | KCNQ3 | c.925T>A (p.Trp309Arg) c.565T>A (p.Trp189Arg) c.598T>A (p.Trp200Arg) c.575T>A n.703T>A c.562T>A (p.Trp188Arg) c.-232T>A (n.-232T>A) c.217T>A (p.Trp73Arg) c.703T>A (p.Trp235Arg) | |
8 | g.132175462C>A | CA372290310 | KCNQ3 | c.924G>T (p.Trp308Cys) c.564G>T (p.Trp188Cys) c.597G>T (p.Trp199Cys) c.574G>T n.702G>T c.561G>T (p.Trp187Cys) c.-233G>T (n.-233G>T) c.216G>T (p.Trp72Cys) c.702G>T (p.Trp234Cys) | ClinVar |
8 | g.132175462C= | CA1820664514 | KCNQ3 | c.924G= (p.Trp308=) c.564G= (p.Trp188=) c.597G= (p.Trp199=) c.574G= n.702G= c.561G= (p.Trp187=) c.-233G= (n.-233G=) c.216G= (p.Trp72=) c.702G= (p.Trp234=) | |
8 | g.132175462C>G | CA372290312 | KCNQ3 | c.924G>C (p.Trp308Cys) c.564G>C (p.Trp188Cys) c.597G>C (p.Trp199Cys) c.574G>C n.702G>C c.561G>C (p.Trp187Cys) c.-233G>C (n.-233G>C) c.216G>C (p.Trp72Cys) c.702G>C (p.Trp234Cys) | |
8 | g.132175462C>T | CA372290311 | KCNQ3 | c.924G>A (p.Trp308Ter) c.564G>A (p.Trp188Ter) c.597G>A (p.Trp199Ter) c.574G>A n.702G>A c.561G>A (p.Trp187Ter) c.-233G>A (n.-233G>A) c.216G>A (p.Trp72Ter) c.702G>A (p.Trp234Ter) | ClinVar dbSNP |
8 | g.132175463C>A | CA372290313 | KCNQ3 | c.923G>T (p.Trp308Leu) c.563G>T (p.Trp188Leu) c.596G>T (p.Trp199Leu) c.573G>T n.701G>T c.560G>T (p.Trp187Leu) c.-234G>T (n.-234G>T) c.215G>T (p.Trp72Leu) c.701G>T (p.Trp234Leu) | |
8 | g.132175463C= | CA1820664515 | KCNQ3 | c.923G= (p.Trp308=) c.563G= (p.Trp188=) c.596G= (p.Trp199=) c.573G= n.701G= c.560G= (p.Trp187=) c.-234G= (n.-234G=) c.215G= (p.Trp72=) c.701G= (p.Trp234=) | |
8 | g.132175463C>G | CA16618600 | KCNQ3 | c.923G>C (p.Trp308Ser) c.563G>C (p.Trp188Ser) c.596G>C (p.Trp199Ser) c.573G>C n.701G>C c.560G>C (p.Trp187Ser) c.-234G>C (n.-234G>C) c.215G>C (p.Trp72Ser) c.701G>C (p.Trp234Ser) | ClinVar dbSNP |
8 | g.132175463C>T | CA372290314 | KCNQ3 | c.923G>A (p.Trp308Ter) c.563G>A (p.Trp188Ter) c.596G>A (p.Trp199Ter) c.573G>A n.701G>A c.560G>A (p.Trp187Ter) c.-234G>A (n.-234G>A) c.215G>A (p.Trp72Ter) c.701G>A (p.Trp234Ter) | |
8 | g.132175464A>C | CA372290315 | KCNQ3 | c.922T>G (p.Trp308Gly) c.562T>G (p.Trp188Gly) c.595T>G (p.Trp199Gly) c.572T>G n.700T>G c.559T>G (p.Trp187Gly) c.-235T>G (n.-235T>G) c.214T>G (p.Trp72Gly) c.700T>G (p.Trp234Gly) | |
8 | g.132175464A>G | CA372290316 | KCNQ3 | c.922T>C (p.Trp308Arg) c.562T>C (p.Trp188Arg) c.595T>C (p.Trp199Arg) c.572T>C n.700T>C c.559T>C (p.Trp187Arg) c.-235T>C (n.-235T>C) c.214T>C (p.Trp72Arg) c.700T>C (p.Trp234Arg) | |
8 | g.132175464A>T | CA372290317 | KCNQ3 | c.922T>A (p.Trp308Arg) c.562T>A (p.Trp188Arg) c.595T>A (p.Trp199Arg) c.572T>A n.700T>A c.559T>A (p.Trp187Arg) c.-235T>A (n.-235T>A) c.214T>A (p.Trp72Arg) c.700T>A (p.Trp234Arg) | |
8 | g.132175465C>A | CA463070350 | KCNQ3 | c.921G>T (p.Leu307=) c.561G>T (p.Leu187=) c.594G>T (p.Leu198=) c.571G>T n.699G>T c.558G>T (p.Leu186=) c.-236G>T (n.-236G>T) c.213G>T (p.Leu71=) c.699G>T (p.Leu233=) | |
8 | g.132175465C= | CA1820664516 | KCNQ3 | c.921G= (p.Leu307=) c.561G= (p.Leu187=) c.594G= (p.Leu198=) c.571G= n.699G= c.558G= (p.Leu186=) c.-236G= (n.-236G=) c.213G= (p.Leu71=) c.699G= (p.Leu233=) | |
8 | g.132175465C>G | CA463070351 | KCNQ3 | c.921G>C (p.Leu307=) c.561G>C (p.Leu187=) c.594G>C (p.Leu198=) c.571G>C n.699G>C c.558G>C (p.Leu186=) c.-236G>C (n.-236G>C) c.213G>C (p.Leu71=) c.699G>C (p.Leu233=) | dbSNP |
8 | g.132175465C>T | CA186223483 | KCNQ3 | c.921G>A (p.Leu307=) c.561G>A (p.Leu187=) c.594G>A (p.Leu198=) c.571G>A n.699G>A c.558G>A (p.Leu186=) c.-236G>A (n.-236G>A) c.213G>A (p.Leu71=) c.699G>A (p.Leu233=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.132175466A>C | CA372290318 | KCNQ3 | c.920T>G (p.Leu307Arg) c.560T>G (p.Leu187Arg) c.593T>G (p.Leu198Arg) c.570T>G n.698T>G c.557T>G (p.Leu186Arg) c.-237T>G (n.-237T>G) c.212T>G (p.Leu71Arg) c.698T>G (p.Leu233Arg) | |
8 | g.132175466A>G | CA372290319 | KCNQ3 | c.920T>C (p.Leu307Pro) c.560T>C (p.Leu187Pro) c.593T>C (p.Leu198Pro) c.570T>C n.698T>C c.557T>C (p.Leu186Pro) c.-237T>C (n.-237T>C) c.212T>C (p.Leu71Pro) c.698T>C (p.Leu233Pro) | |
8 | g.132175466A>T | CA372290320 | KCNQ3 | c.920T>A (p.Leu307Gln) c.560T>A (p.Leu187Gln) c.593T>A (p.Leu198Gln) c.570T>A n.698T>A c.557T>A (p.Leu186Gln) c.-237T>A (n.-237T>A) c.212T>A (p.Leu71Gln) c.698T>A (p.Leu233Gln) | |
8 | g.132175467G>A | CA463070353 | KCNQ3 | c.919C>T (p.Leu307=) c.559C>T (p.Leu187=) c.592C>T (p.Leu198=) c.569C>T n.697C>T c.556C>T (p.Leu186=) c.-238C>T (n.-238C>T) c.211C>T (p.Leu71=) c.697C>T (p.Leu233=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.132175467G>C | CA372290321 | KCNQ3 | c.919C>G (p.Leu307Val) c.559C>G (p.Leu187Val) c.592C>G (p.Leu198Val) c.569C>G n.697C>G c.556C>G (p.Leu186Val) c.-238C>G (n.-238C>G) c.211C>G (p.Leu71Val) c.697C>G (p.Leu233Val) | |
8 | g.132175467G= | CA1820664517 | KCNQ3 | c.919C= (p.Leu307=) c.559C= (p.Leu187=) c.592C= (p.Leu198=) c.569C= n.697C= c.556C= (p.Leu186=) c.-238C= (n.-238C=) c.211C= (p.Leu71=) c.697C= (p.Leu233=) | |
8 | g.132175467G>T | CA372290322 | KCNQ3 | c.919C>A (p.Leu307Met) c.559C>A (p.Leu187Met) c.592C>A (p.Leu198Met) c.569C>A n.697C>A c.556C>A (p.Leu186Met) c.-238C>A (n.-238C>A) c.211C>A (p.Leu71Met) c.697C>A (p.Leu233Met) | |
8 | g.132175468G>A | CA186223484 | KCNQ3 | c.918C>T (p.Ala306=) c.558C>T (p.Ala186=) c.591C>T (p.Ala197=) c.568C>T n.696C>T c.555C>T (p.Ala185=) c.-239C>T (n.-239C>T) c.210C>T (p.Ala70=) c.696C>T (p.Ala232=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.132175468G>C | CA463070354 | KCNQ3 | c.918C>G (p.Ala306=) c.558C>G (p.Ala186=) c.591C>G (p.Ala197=) c.568C>G n.696C>G c.555C>G (p.Ala185=) c.-239C>G (n.-239C>G) c.210C>G (p.Ala70=) c.696C>G (p.Ala232=) | |
8 | g.132175468G= | CA1820664518 | KCNQ3 | c.918C= (p.Ala306=) c.558C= (p.Ala186=) c.591C= (p.Ala197=) c.568C= n.696C= c.555C= (p.Ala185=) c.-239C= (n.-239C=) c.210C= (p.Ala70=) c.696C= (p.Ala232=) | |
8 | g.132175468G>T | CA463070355 | KCNQ3 | c.918C>A (p.Ala306=) c.558C>A (p.Ala186=) c.591C>A (p.Ala197=) c.568C>A n.696C>A c.555C>A (p.Ala185=) c.-239C>A (n.-239C>A) c.210C>A (p.Ala70=) c.696C>A (p.Ala232=) | |
8 | g.132175469G>A | CA315599 | KCNQ3 | c.917C>T (p.Ala306Val) c.557C>T (p.Ala186Val) c.590C>T (p.Ala197Val) c.567C>T n.695C>T c.554C>T (p.Ala185Val) c.-240C>T (n.-240C>T) c.209C>T (p.Ala70Val) c.695C>T (p.Ala232Val) | ClinVar dbSNP |
8 | g.132175469G>C | CA372290323 | KCNQ3 | c.917C>G (p.Ala306Gly) c.557C>G (p.Ala186Gly) c.590C>G (p.Ala197Gly) c.567C>G n.695C>G c.554C>G (p.Ala185Gly) c.-240C>G (n.-240C>G) c.209C>G (p.Ala70Gly) c.695C>G (p.Ala232Gly) | |
8 | g.132175469G= | CA1820664519 | KCNQ3 | c.917C= (p.Ala306=) c.557C= (p.Ala186=) c.590C= (p.Ala197=) c.567C= n.695C= c.554C= (p.Ala185=) c.-240C= (n.-240C=) c.209C= (p.Ala70=) c.695C= (p.Ala232=) | |
8 | g.132175469G>T | CA372290324 | KCNQ3 | c.917C>A (p.Ala306Asp) c.557C>A (p.Ala186Asp) c.590C>A (p.Ala197Asp) c.567C>A n.695C>A c.554C>A (p.Ala185Asp) c.-240C>A (n.-240C>A) c.209C>A (p.Ala70Asp) c.695C>A (p.Ala232Asp) | |
8 | g.132175470C>A | CA372290325 | KCNQ3 | c.916G>T (p.Ala306Ser) c.556G>T (p.Ala186Ser) c.589G>T (p.Ala197Ser) c.566G>T n.694G>T c.553G>T (p.Ala185Ser) c.-241G>T (n.-241G>T) c.208G>T (p.Ala70Ser) c.694G>T (p.Ala232Ser) | |
8 | g.132175470C= | CA1820664520 | KCNQ3 | c.916G= (p.Ala306=) c.556G= (p.Ala186=) c.589G= (p.Ala197=) c.566G= n.694G= c.553G= (p.Ala185=) c.-241G= (n.-241G=) c.208G= (p.Ala70=) c.694G= (p.Ala232=) | |
8 | g.132175470C>G | CA372290326 | KCNQ3 | c.916G>C (p.Ala306Pro) c.556G>C (p.Ala186Pro) c.589G>C (p.Ala197Pro) c.566G>C n.694G>C c.553G>C (p.Ala185Pro) c.-241G>C (n.-241G>C) c.208G>C (p.Ala70Pro) c.694G>C (p.Ala232Pro) | |
8 | g.132175470C>T | CA372290327 | KCNQ3 | c.916G>A (p.Ala306Thr) c.556G>A (p.Ala186Thr) c.589G>A (p.Ala197Thr) c.566G>A n.694G>A c.553G>A (p.Ala185Thr) c.-241G>A (n.-241G>A) c.208G>A (p.Ala70Thr) c.694G>A (p.Ala232Thr) | ClinVar dbSNP |
8 | g.132175471A>C | CA372290328 | KCNQ3 | c.915T>G (p.Asp305Glu) c.555T>G (p.Asp185Glu) c.588T>G (p.Asp196Glu) c.565T>G n.693T>G c.552T>G (p.Asp184Glu) c.-242T>G (n.-242T>G) c.207T>G (p.Asp69Glu) c.693T>G (p.Asp231Glu) | |
8 | g.132175471A>G | CA463070356 | KCNQ3 | c.915T>C (p.Asp305=) c.555T>C (p.Asp185=) c.588T>C (p.Asp196=) c.565T>C n.693T>C c.552T>C (p.Asp184=) c.-242T>C (n.-242T>C) c.207T>C (p.Asp69=) c.693T>C (p.Asp231=) | |
8 | g.132175471A>T | CA372290329 | KCNQ3 | c.915T>A (p.Asp305Glu) c.555T>A (p.Asp185Glu) c.588T>A (p.Asp196Glu) c.565T>A n.693T>A c.552T>A (p.Asp184Glu) c.-242T>A (n.-242T>A) c.207T>A (p.Asp69Glu) c.693T>A (p.Asp231Glu) | |
8 | g.132175472T>A | CA372290330 | KCNQ3 | c.914A>T (p.Asp305Val) c.554A>T (p.Asp185Val) c.587A>T (p.Asp196Val) c.564A>T n.692A>T c.551A>T (p.Asp184Val) c.-243A>T (n.-243A>T) c.206A>T (p.Asp69Val) c.692A>T (p.Asp231Val) | ClinVar dbSNP |
8 | g.132175472T>C | CA342041 | KCNQ3 | c.914A>G (p.Asp305Gly) c.554A>G (p.Asp185Gly) c.587A>G (p.Asp196Gly) c.564A>G n.692A>G c.551A>G (p.Asp184Gly) c.-243A>G (n.-243A>G) c.206A>G (p.Asp69Gly) c.692A>G (p.Asp231Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.132175472T>G | CA372290331 | KCNQ3 | c.914A>C (p.Asp305Ala) c.554A>C (p.Asp185Ala) c.587A>C (p.Asp196Ala) c.564A>C n.692A>C c.551A>C (p.Asp184Ala) c.-243A>C (n.-243A>C) c.206A>C (p.Asp69Ala) c.692A>C (p.Asp231Ala) | |
8 | g.132175472T= | CA1820664521 | KCNQ3 | c.914A= (p.Asp305=) c.554A= (p.Asp185=) c.587A= (p.Asp196=) c.564A= n.692A= c.551A= (p.Asp184=) c.-243A= (n.-243A=) c.206A= (p.Asp69=) c.692A= (p.Asp231=) | |
8 | g.132175473C>A | CA372290332 | KCNQ3 | c.913G>T (p.Asp305Tyr) c.553G>T (p.Asp185Tyr) c.586G>T (p.Asp196Tyr) c.563G>T n.691G>T c.550G>T (p.Asp184Tyr) c.-244G>T (n.-244G>T) c.205G>T (p.Asp69Tyr) c.691G>T (p.Asp231Tyr) | ClinVar dbSNP |
8 | g.132175473C= | CA1820664522 | KCNQ3 | c.913G= (p.Asp305=) c.553G= (p.Asp185=) c.586G= (p.Asp196=) c.563G= n.691G= c.550G= (p.Asp184=) c.-244G= (n.-244G=) c.205G= (p.Asp69=) c.691G= (p.Asp231=) | |
8 | g.132175473C>G | CA372290333 | KCNQ3 | c.913G>C (p.Asp305His) c.553G>C (p.Asp185His) c.586G>C (p.Asp196His) c.563G>C n.691G>C c.550G>C (p.Asp184His) c.-244G>C (n.-244G>C) c.205G>C (p.Asp69His) c.691G>C (p.Asp231His) | |
8 | g.132175473C>T | CA372290334 | KCNQ3 | c.913G>A (p.Asp305Asn) c.553G>A (p.Asp185Asn) c.586G>A (p.Asp196Asn) c.563G>A n.691G>A c.550G>A (p.Asp184Asn) c.-244G>A (n.-244G>A) c.205G>A (p.Asp69Asn) c.691G>A (p.Asp231Asn) | |
8 | g.132175474T>A | CA463070357 | KCNQ3 | c.912A>T (p.Ala304=) c.552A>T (p.Ala184=) c.585A>T (p.Ala195=) c.562A>T n.690A>T c.549A>T (p.Ala183=) c.-245A>T (n.-245A>T) c.204A>T (p.Ala68=) c.690A>T (p.Ala230=) | |
8 | g.132175474T>C | CA4880816 | KCNQ3 | c.912A>G (p.Ala304=) c.552A>G (p.Ala184=) c.585A>G (p.Ala195=) c.562A>G n.690A>G c.549A>G (p.Ala183=) c.-245A>G (n.-245A>G) c.204A>G (p.Ala68=) c.690A>G (p.Ala230=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.132175474T>G | CA463070358 | KCNQ3 | c.912A>C (p.Ala304=) c.552A>C (p.Ala184=) c.585A>C (p.Ala195=) c.562A>C n.690A>C c.549A>C (p.Ala183=) c.-245A>C (n.-245A>C) c.204A>C (p.Ala68=) c.690A>C (p.Ala230=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.132175474T= | CA1820664523 | KCNQ3 | c.912A= (p.Ala304=) c.552A= (p.Ala184=) c.585A= (p.Ala195=) c.562A= n.690A= c.549A= (p.Ala183=) c.-245A= (n.-245A=) c.204A= (p.Ala68=) c.690A= (p.Ala230=) | |
8 | g.132175475G>A | CA372290337 | KCNQ3 | c.911C>T (p.Ala304Val) c.551C>T (p.Ala184Val) c.584C>T (p.Ala195Val) c.561C>T n.689C>T c.548C>T (p.Ala183Val) c.-246C>T (n.-246C>T) c.203C>T (p.Ala68Val) c.689C>T (p.Ala230Val) | |
8 | g.132175475G>C | CA372290335 | KCNQ3 | c.911C>G (p.Ala304Gly) c.551C>G (p.Ala184Gly) c.584C>G (p.Ala195Gly) c.561C>G n.689C>G c.548C>G (p.Ala183Gly) c.-246C>G (n.-246C>G) c.203C>G (p.Ala68Gly) c.689C>G (p.Ala230Gly) | gnomAD v4 |
8 | g.132175475G>T | CA372290336 | KCNQ3 | c.911C>A (p.Ala304Glu) c.551C>A (p.Ala184Glu) c.584C>A (p.Ala195Glu) c.561C>A n.689C>A c.548C>A (p.Ala183Glu) c.-246C>A (n.-246C>A) c.203C>A (p.Ala68Glu) c.689C>A (p.Ala230Glu) | gnomAD v4 |
8 | g.132175476C>A | CA372290338 | KCNQ3 | c.910G>T (p.Ala304Ser) c.550G>T (p.Ala184Ser) c.583G>T (p.Ala195Ser) c.560G>T n.688G>T c.547G>T (p.Ala183Ser) c.-247G>T (n.-247G>T) c.202G>T (p.Ala68Ser) c.688G>T (p.Ala230Ser) | |
8 | g.132175476C>G | CA372290339 | KCNQ3 | c.910G>C (p.Ala304Pro) c.550G>C (p.Ala184Pro) c.583G>C (p.Ala195Pro) c.560G>C n.688G>C c.547G>C (p.Ala183Pro) c.-247G>C (n.-247G>C) c.202G>C (p.Ala68Pro) c.688G>C (p.Ala230Pro) | |
8 | g.132175476C>T | CA372290340 | KCNQ3 | c.910G>A (p.Ala304Thr) c.550G>A (p.Ala184Thr) c.583G>A (p.Ala195Thr) c.560G>A n.688G>A c.547G>A (p.Ala183Thr) c.-247G>A (n.-247G>A) c.202G>A (p.Ala68Thr) c.688G>A (p.Ala230Thr) | |
8 | g.132175477A>C | CA372290341 | KCNQ3 | c.909T>G (p.Tyr303Ter) c.549T>G (p.Tyr183Ter) c.582T>G (p.Tyr194Ter) c.559T>G n.687T>G c.546T>G (p.Tyr182Ter) c.-248T>G (n.-248T>G) c.201T>G (p.Tyr67Ter) c.687T>G (p.Tyr229Ter) | |
8 | g.132175477A>G | CA463070359 | KCNQ3 | c.909T>C (p.Tyr303=) c.549T>C (p.Tyr183=) c.582T>C (p.Tyr194=) c.559T>C n.687T>C c.546T>C (p.Tyr182=) c.-248T>C (n.-248T>C) c.201T>C (p.Tyr67=) c.687T>C (p.Tyr229=) | |
8 | g.132175477A>T | CA372290342 | KCNQ3 | c.909T>A (p.Tyr303Ter) c.549T>A (p.Tyr183Ter) c.582T>A (p.Tyr194Ter) c.559T>A n.687T>A c.546T>A (p.Tyr182Ter) c.-248T>A (n.-248T>A) c.201T>A (p.Tyr67Ter) c.687T>A (p.Tyr229Ter) | |
8 | g.132175478T>A | CA372290343 | KCNQ3 | c.908A>T (p.Tyr303Phe) c.548A>T (p.Tyr183Phe) c.581A>T (p.Tyr194Phe) c.558A>T n.686A>T c.545A>T (p.Tyr182Phe) c.-249A>T (n.-249A>T) c.200A>T (p.Tyr67Phe) c.686A>T (p.Tyr229Phe) | |
8 | g.132175478T>C | CA372290344 | KCNQ3 | c.908A>G (p.Tyr303Cys) c.548A>G (p.Tyr183Cys) c.581A>G (p.Tyr194Cys) c.558A>G n.686A>G c.545A>G (p.Tyr182Cys) c.-249A>G (n.-249A>G) c.200A>G (p.Tyr67Cys) c.686A>G (p.Tyr229Cys) | |
8 | g.132175478T>G | CA372290345 | KCNQ3 | c.908A>C (p.Tyr303Ser) c.548A>C (p.Tyr183Ser) c.581A>C (p.Tyr194Ser) c.558A>C n.686A>C c.545A>C (p.Tyr182Ser) c.-249A>C (n.-249A>C) c.200A>C (p.Tyr67Ser) c.686A>C (p.Tyr229Ser) | |
8 | g.132175479A>C | CA372290346 | KCNQ3 | c.907T>G (p.Tyr303Asp) c.547T>G (p.Tyr183Asp) c.580T>G (p.Tyr194Asp) c.557T>G n.685T>G c.544T>G (p.Tyr182Asp) c.-250T>G (n.-250T>G) c.199T>G (p.Tyr67Asp) c.685T>G (p.Tyr229Asp) | |
8 | g.132175479A>G | CA372290347 | KCNQ3 | c.907T>C (p.Tyr303His) c.547T>C (p.Tyr183His) c.580T>C (p.Tyr194His) c.557T>C n.685T>C c.544T>C (p.Tyr182His) c.-250T>C (n.-250T>C) c.199T>C (p.Tyr67His) c.685T>C (p.Tyr229His) | |
8 | g.132175479A>T | CA372290348 | KCNQ3 | c.907T>A (p.Tyr303Asn) c.547T>A (p.Tyr183Asn) c.580T>A (p.Tyr194Asn) c.557T>A n.685T>A c.544T>A (p.Tyr182Asn) c.-250T>A (n.-250T>A) c.199T>A (p.Tyr67Asn) c.685T>A (p.Tyr229Asn) | |
8 | g.132175480G>A | CA463070360 | KCNQ3 | c.906C>T (p.Thr302=) c.546C>T (p.Thr182=) c.579C>T (p.Thr193=) c.556C>T n.684C>T c.543C>T (p.Thr181=) c.-251C>T (n.-251C>T) c.198C>T (p.Thr66=) c.684C>T (p.Thr228=) | |
8 | g.132175480G>C | CA463070361 | KCNQ3 | c.906C>G (p.Thr302=) c.546C>G (p.Thr182=) c.579C>G (p.Thr193=) c.556C>G n.684C>G c.543C>G (p.Thr181=) c.-251C>G (n.-251C>G) c.198C>G (p.Thr66=) c.684C>G (p.Thr228=) | |
8 | g.132175480G>T | CA463070362 | KCNQ3 | c.906C>A (p.Thr302=) c.546C>A (p.Thr182=) c.579C>A (p.Thr193=) c.556C>A n.684C>A c.543C>A (p.Thr181=) c.-251C>A (n.-251C>A) c.198C>A (p.Thr66=) c.684C>A (p.Thr228=) | |
8 | g.132175481G>A | CA372290349 | KCNQ3 | c.905C>T (p.Thr302Ile) c.545C>T (p.Thr182Ile) c.578C>T (p.Thr193Ile) c.555C>T n.683C>T c.542C>T (p.Thr181Ile) c.-252C>T (n.-252C>T) c.197C>T (p.Thr66Ile) c.683C>T (p.Thr228Ile) | |
8 | g.132175481G>C | CA372290350 | KCNQ3 | c.905C>G (p.Thr302Ser) c.545C>G (p.Thr182Ser) c.578C>G (p.Thr193Ser) c.555C>G n.683C>G c.542C>G (p.Thr181Ser) c.-252C>G (n.-252C>G) c.197C>G (p.Thr66Ser) c.683C>G (p.Thr228Ser) | |
8 | g.132175481G= | CA1820664524 | KCNQ3 | c.905C= (p.Thr302=) c.545C= (p.Thr182=) c.578C= (p.Thr193=) c.555C= n.683C= c.542C= (p.Thr181=) c.-252C= (n.-252C=) c.197C= (p.Thr66=) c.683C= (p.Thr228=) | |
8 | g.132175481G>T | CA186223485 | KCNQ3 | c.905C>A (p.Thr302Asn) c.545C>A (p.Thr182Asn) c.578C>A (p.Thr193Asn) c.555C>A n.683C>A c.542C>A (p.Thr181Asn) c.-252C>A (n.-252C>A) c.197C>A (p.Thr66Asn) c.683C>A (p.Thr228Asn) | dbSNP |
8 | g.132175482T>A | CA372290351 | KCNQ3 | c.904A>T (p.Thr302Ser) c.544A>T (p.Thr182Ser) c.577A>T (p.Thr193Ser) c.554A>T n.682A>T c.541A>T (p.Thr181Ser) c.-253A>T (n.-253A>T) c.196A>T (p.Thr66Ser) c.682A>T (p.Thr228Ser) | |
8 | g.132175482T>C | CA372290352 | KCNQ3 | c.904A>G (p.Thr302Ala) c.544A>G (p.Thr182Ala) c.577A>G (p.Thr193Ala) c.554A>G n.682A>G c.541A>G (p.Thr181Ala) c.-253A>G (n.-253A>G) c.196A>G (p.Thr66Ala) c.682A>G (p.Thr228Ala) | |
8 | g.132175482T>G | CA372290353 | KCNQ3 | c.904A>C (p.Thr302Pro) c.544A>C (p.Thr182Pro) c.577A>C (p.Thr193Pro) c.554A>C n.682A>C c.541A>C (p.Thr181Pro) c.-253A>C (n.-253A>C) c.196A>C (p.Thr66Pro) c.682A>C (p.Thr228Pro) | |
8 | g.132175483C>A | CA4880817 | KCNQ3 | c.903G>T (p.Glu301Asp) c.543G>T (p.Glu181Asp) c.576G>T (p.Glu192Asp) c.553G>T n.681G>T c.540G>T (p.Glu180Asp) c.-254G>T (n.-254G>T) c.195G>T (p.Glu65Asp) c.681G>T (p.Glu227Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.132175483C= | CA1820664525 | KCNQ3 | c.903G= (p.Glu301=) c.543G= (p.Glu181=) c.576G= (p.Glu192=) c.553G= n.681G= c.540G= (p.Glu180=) c.-254G= (n.-254G=) c.195G= (p.Glu65=) c.681G= (p.Glu227=) | |
8 | g.132175483C>G | CA372290354 | KCNQ3 | c.903G>C (p.Glu301Asp) c.543G>C (p.Glu181Asp) c.576G>C (p.Glu192Asp) c.553G>C n.681G>C c.540G>C (p.Glu180Asp) c.-254G>C (n.-254G>C) c.195G>C (p.Glu65Asp) c.681G>C (p.Glu227Asp) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.132175483C>T | CA463070363 | KCNQ3 | c.903G>A (p.Glu301=) c.543G>A (p.Glu181=) c.576G>A (p.Glu192=) c.553G>A n.681G>A c.540G>A (p.Glu180=) c.-254G>A (n.-254G>A) c.195G>A (p.Glu65=) c.681G>A (p.Glu227=) | ClinVar dbSNP |
8 | g.132175484T>A | CA372290355 | KCNQ3 | c.902A>T (p.Glu301Val) c.542A>T (p.Glu181Val) c.575A>T (p.Glu192Val) c.552A>T n.680A>T c.539A>T (p.Glu180Val) c.-255A>T (n.-255A>T) c.194A>T (p.Glu65Val) c.680A>T (p.Glu227Val) | |
8 | g.132175484T>C | CA372290356 | KCNQ3 | c.902A>G (p.Glu301Gly) c.542A>G (p.Glu181Gly) c.575A>G (p.Glu192Gly) c.552A>G n.680A>G c.539A>G (p.Glu180Gly) c.-255A>G (n.-255A>G) c.194A>G (p.Glu65Gly) c.680A>G (p.Glu227Gly) | |
8 | g.132175484T>G | CA372290357 | KCNQ3 | c.902A>C (p.Glu301Ala) c.542A>C (p.Glu181Ala) c.575A>C (p.Glu192Ala) c.552A>C n.680A>C c.539A>C (p.Glu180Ala) c.-255A>C (n.-255A>C) c.194A>C (p.Glu65Ala) c.680A>C (p.Glu227Ala) | |
8 | g.132175485C>A | CA372290358 | KCNQ3 | c.901G>T (p.Glu301Ter) c.541G>T (p.Glu181Ter) c.574G>T (p.Glu192Ter) c.551G>T n.679G>T c.538G>T (p.Glu180Ter) c.-256G>T (n.-256G>T) c.193G>T (p.Glu65Ter) c.679G>T (p.Glu227Ter) | |
8 | g.132175485C>G | CA372290359 | KCNQ3 | c.901G>C (p.Glu301Gln) c.541G>C (p.Glu181Gln) c.574G>C (p.Glu192Gln) c.551G>C n.679G>C c.538G>C (p.Glu180Gln) c.-256G>C (n.-256G>C) c.193G>C (p.Glu65Gln) c.679G>C (p.Glu227Gln) | |
8 | g.132175485C>T | CA372290360 | KCNQ3 | c.901G>A (p.Glu301Lys) c.541G>A (p.Glu181Lys) c.574G>A (p.Glu192Lys) c.551G>A n.679G>A c.538G>A (p.Glu180Lys) c.-256G>A (n.-256G>A) c.193G>A (p.Glu65Lys) c.679G>A (p.Glu227Lys) | |
8 | g.132175486A>C | CA372290362 | KCNQ3 | c.900T>G (p.Phe300Leu) c.540T>G (p.Phe180Leu) c.573T>G (p.Phe191Leu) c.550T>G n.678T>G c.537T>G (p.Phe179Leu) c.-257T>G (n.-257T>G) c.192T>G (p.Phe64Leu) c.678T>G (p.Phe226Leu) | COSMIC |
8 | g.132175486A>G | CA463070364 | KCNQ3 | c.900T>C (p.Phe300=) c.540T>C (p.Phe180=) c.573T>C (p.Phe191=) c.550T>C n.678T>C c.537T>C (p.Phe179=) c.-257T>C (n.-257T>C) c.192T>C (p.Phe64=) c.678T>C (p.Phe226=) | gnomAD v4 |
8 | g.132175486A>T | CA372290361 | KCNQ3 | c.900T>A (p.Phe300Leu) c.540T>A (p.Phe180Leu) c.573T>A (p.Phe191Leu) c.550T>A n.678T>A c.537T>A (p.Phe179Leu) c.-257T>A (n.-257T>A) c.192T>A (p.Phe64Leu) c.678T>A (p.Phe226Leu) | |
8 | g.132175487A= | CA1820664526 | KCNQ3 | c.899T= (p.Phe300=) c.539T= (p.Phe180=) c.572T= (p.Phe191=) c.549T= n.677T= c.536T= (p.Phe179=) c.-258T= (n.-258T=) c.191T= (p.Phe64=) c.677T= (p.Phe226=) | |
8 | g.132175487A>C | CA372290363 | KCNQ3 | c.899T>G (p.Phe300Cys) c.539T>G (p.Phe180Cys) c.572T>G (p.Phe191Cys) c.549T>G n.677T>G c.536T>G (p.Phe179Cys) c.-258T>G (n.-258T>G) c.191T>G (p.Phe64Cys) c.677T>G (p.Phe226Cys) | ClinVar dbSNP |
8 | g.132175487A>G | CA372290365 | KCNQ3 | c.899T>C (p.Phe300Ser) c.539T>C (p.Phe180Ser) c.572T>C (p.Phe191Ser) c.549T>C n.677T>C c.536T>C (p.Phe179Ser) c.-258T>C (n.-258T>C) c.191T>C (p.Phe64Ser) c.677T>C (p.Phe226Ser) | ClinVar dbSNP |
8 | g.132175487A>T | CA372290364 | KCNQ3 | c.899T>A (p.Phe300Tyr) c.539T>A (p.Phe180Tyr) c.572T>A (p.Phe191Tyr) c.549T>A n.677T>A c.536T>A (p.Phe179Tyr) c.-258T>A (n.-258T>A) c.191T>A (p.Phe64Tyr) c.677T>A (p.Phe226Tyr) | |
8 | g.132175488A>C | CA372290366 | KCNQ3 | c.898T>G (p.Phe300Val) c.538T>G (p.Phe180Val) c.571T>G (p.Phe191Val) c.548T>G n.676T>G c.535T>G (p.Phe179Val) c.-259T>G (n.-259T>G) c.190T>G (p.Phe64Val) c.676T>G (p.Phe226Val) | |
8 | g.132175488A>G | CA372290367 | KCNQ3 | c.898T>C (p.Phe300Leu) c.538T>C (p.Phe180Leu) c.571T>C (p.Phe191Leu) c.548T>C n.676T>C c.535T>C (p.Phe179Leu) c.-259T>C (n.-259T>C) c.190T>C (p.Phe64Leu) c.676T>C (p.Phe226Leu) | |
8 | g.132175488A>T | CA372290368 | KCNQ3 | c.898T>A (p.Phe300Ile) c.538T>A (p.Phe180Ile) c.571T>A (p.Phe191Ile) c.548T>A n.676T>A c.535T>A (p.Phe179Ile) c.-259T>A (n.-259T>A) c.190T>A (p.Phe64Ile) c.676T>A (p.Phe226Ile) | |
8 | g.132175489C>A | CA372290369 | KCNQ3 | c.897G>T (p.Glu299Asp) c.537G>T (p.Glu179Asp) c.570G>T (p.Glu190Asp) c.547G>T n.675G>T c.534G>T (p.Glu178Asp) c.-260G>T (n.-260G>T) c.189G>T (p.Glu63Asp) c.675G>T (p.Glu225Asp) | |
8 | g.132175489C= | CA1820664527 | KCNQ3 | c.897G= (p.Glu299=) c.537G= (p.Glu179=) c.570G= (p.Glu190=) c.547G= n.675G= c.534G= (p.Glu178=) c.-260G= (n.-260G=) c.189G= (p.Glu63=) c.675G= (p.Glu225=) | |
8 | g.132175489C>G | CA372290370 | KCNQ3 | c.897G>C (p.Glu299Asp) c.537G>C (p.Glu179Asp) c.570G>C (p.Glu190Asp) c.547G>C n.675G>C c.534G>C (p.Glu178Asp) c.-260G>C (n.-260G>C) c.189G>C (p.Glu63Asp) c.675G>C (p.Glu225Asp) | |
8 | g.132175489C>T | CA4880818 | KCNQ3 | c.897G>A (p.Glu299=) c.537G>A (p.Glu179=) c.570G>A (p.Glu190=) c.547G>A n.675G>A c.534G>A (p.Glu178=) c.-260G>A (n.-260G>A) c.189G>A (p.Glu63=) c.675G>A (p.Glu225=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.132175490T>A | CA372290371 | KCNQ3 | c.896A>T (p.Glu299Val) c.536A>T (p.Glu179Val) c.569A>T (p.Glu190Val) c.546A>T n.674A>T c.533A>T (p.Glu178Val) c.-261A>T (n.-261A>T) c.188A>T (p.Glu63Val) c.674A>T (p.Glu225Val) | ClinVar |
8 | g.132175490T>C | CA372290372 | KCNQ3 | c.896A>G (p.Glu299Gly) c.536A>G (p.Glu179Gly) c.569A>G (p.Glu190Gly) c.546A>G n.674A>G c.533A>G (p.Glu178Gly) c.-261A>G (n.-261A>G) c.188A>G (p.Glu63Gly) c.674A>G (p.Glu225Gly) | |
8 | g.132175490T>G | CA372290373 | KCNQ3 | c.896A>C (p.Glu299Ala) c.536A>C (p.Glu179Ala) c.569A>C (p.Glu190Ala) c.546A>C n.674A>C c.533A>C (p.Glu178Ala) c.-261A>C (n.-261A>C) c.188A>C (p.Glu63Ala) c.674A>C (p.Glu225Ala) | |
8 | g.132175491C>A | CA372290374 | KCNQ3 | c.895G>T (p.Glu299Ter) c.535G>T (p.Glu179Ter) c.568G>T (p.Glu190Ter) c.545G>T n.673G>T c.532G>T (p.Glu178Ter) c.-262G>T (n.-262G>T) c.187G>T (p.Glu63Ter) c.673G>T (p.Glu225Ter) | |
8 | g.132175491C= | CA1820664528 | KCNQ3 | c.895G= (p.Glu299=) c.535G= (p.Glu179=) c.568G= (p.Glu190=) c.545G= n.673G= c.532G= (p.Glu178=) c.-262G= (n.-262G=) c.187G= (p.Glu63=) c.673G= (p.Glu225=) | |
8 | g.132175491C>G | CA372290375 | KCNQ3 | c.895G>C (p.Glu299Gln) c.535G>C (p.Glu179Gln) c.568G>C (p.Glu190Gln) c.545G>C n.673G>C c.532G>C (p.Glu178Gln) c.-262G>C (n.-262G>C) c.187G>C (p.Glu63Gln) c.673G>C (p.Glu225Gln) | |
8 | g.132175491C>T | CA342039 | KCNQ3 | c.895G>A (p.Glu299Lys) c.535G>A (p.Glu179Lys) c.568G>A (p.Glu190Lys) c.545G>A n.673G>A c.532G>A (p.Glu178Lys) c.-262G>A (n.-262G>A) c.187G>A (p.Glu63Lys) c.673G>A (p.Glu225Lys) | ClinVar dbSNP |
8 | g.132175492C>A | CA372290377 | KCNQ3 | c.894G>T (p.Glu298Asp) c.534G>T (p.Glu178Asp) c.567G>T (p.Glu189Asp) c.544G>T n.672G>T c.531G>T (p.Glu177Asp) c.-263G>T (n.-263G>T) c.186G>T (p.Glu62Asp) c.672G>T (p.Glu224Asp) | |
8 | g.132175492C= | CA1820664529 | KCNQ3 | c.894G= (p.Glu298=) c.534G= (p.Glu178=) c.567G= (p.Glu189=) c.544G= n.672G= c.531G= (p.Glu177=) c.-263G= (n.-263G=) c.186G= (p.Glu62=) c.672G= (p.Glu224=) | |
8 | g.132175492C>G | CA372290376 | KCNQ3 | c.894G>C (p.Glu298Asp) c.534G>C (p.Glu178Asp) c.567G>C (p.Glu189Asp) c.544G>C n.672G>C c.531G>C (p.Glu177Asp) c.-263G>C (n.-263G>C) c.186G>C (p.Glu62Asp) c.672G>C (p.Glu224Asp) | gnomAD v4 |
8 | g.132175492C>T | CA463070365 | KCNQ3 | c.894G>A (p.Glu298=) c.534G>A (p.Glu178=) c.567G>A (p.Glu189=) c.544G>A n.672G>A c.531G>A (p.Glu177=) c.-263G>A (n.-263G>A) c.186G>A (p.Glu62=) c.672G>A (p.Glu224=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.132175493del | CA2580078584 | KCNQ3 | c.893del (p.Glu298GlyfsTer14) c.533del (p.Glu178GlyfsTer14) c.566del (p.Glu189GlyfsTer14) c.543del n.671del c.530del (p.Glu177GlyfsTer14) c.-264del (n.-264del) c.185del (p.Glu62GlyfsTer14) c.671del (p.Glu224GlyfsTer14) | ClinVar |
8 | g.132175493T>A | CA372290378 | KCNQ3 | c.893A>T (p.Glu298Val) c.533A>T (p.Glu178Val) c.566A>T (p.Glu189Val) c.543A>T n.671A>T c.530A>T (p.Glu177Val) c.-264A>T (n.-264A>T) c.185A>T (p.Glu62Val) c.671A>T (p.Glu224Val) | |
8 | g.132175493T>C | CA372290379 | KCNQ3 | c.893A>G (p.Glu298Gly) c.533A>G (p.Glu178Gly) c.566A>G (p.Glu189Gly) c.543A>G n.671A>G c.530A>G (p.Glu177Gly) c.-264A>G (n.-264A>G) c.185A>G (p.Glu62Gly) c.671A>G (p.Glu224Gly) | dbSNP |
8 | g.132175493T>G | CA372290380 | KCNQ3 | c.893A>C (p.Glu298Ala) c.533A>C (p.Glu178Ala) c.566A>C (p.Glu189Ala) c.543A>C n.671A>C c.530A>C (p.Glu177Ala) c.-264A>C (n.-264A>C) c.185A>C (p.Glu62Ala) c.671A>C (p.Glu224Ala) | |
8 | g.132175493T= | CA1820664530 | KCNQ3 | c.893A= (p.Glu298=) c.533A= (p.Glu178=) c.566A= (p.Glu189=) c.543A= n.671A= c.530A= (p.Glu177=) c.-264A= (n.-264A=) c.185A= (p.Glu62=) c.671A= (p.Glu224=) | |
8 | g.132175494C>A | CA372290381 | KCNQ3 | c.892G>T (p.Glu298Ter) c.532G>T (p.Glu178Ter) c.565G>T (p.Glu189Ter) c.542G>T n.670G>T c.529G>T (p.Glu177Ter) c.-265G>T (n.-265G>T) c.184G>T (p.Glu62Ter) c.670G>T (p.Glu224Ter) | |
8 | g.132175494C>G | CA372290382 | KCNQ3 | c.892G>C (p.Glu298Gln) c.532G>C (p.Glu178Gln) c.565G>C (p.Glu189Gln) c.542G>C n.670G>C c.529G>C (p.Glu177Gln) c.-265G>C (n.-265G>C) c.184G>C (p.Glu62Gln) c.670G>C (p.Glu224Gln) | |
8 | g.132175494C>T | CA372290383 | KCNQ3 | c.892G>A (p.Glu298Lys) c.532G>A (p.Glu178Lys) c.565G>A (p.Glu189Lys) c.542G>A n.670G>A c.529G>A (p.Glu177Lys) c.-265G>A (n.-265G>A) c.184G>A (p.Glu62Lys) c.670G>A (p.Glu224Lys) | |
8 | g.132175495T>A | CA372290384 | KCNQ3 | c.891A>T (p.Lys297Asn) c.531A>T (p.Lys177Asn) c.564A>T (p.Lys188Asn) c.541A>T n.669A>T c.528A>T (p.Lys176Asn) c.-266A>T (n.-266A>T) c.183A>T (p.Lys61Asn) c.669A>T (p.Lys223Asn) | |
8 | g.132175495T>C | CA4880819 | KCNQ3 | c.891A>G (p.Lys297=) c.531A>G (p.Lys177=) c.564A>G (p.Lys188=) c.541A>G n.669A>G c.528A>G (p.Lys176=) c.-266A>G (n.-266A>G) c.183A>G (p.Lys61=) c.669A>G (p.Lys223=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.132175495T>G | CA372290385 | KCNQ3 | c.891A>C (p.Lys297Asn) c.531A>C (p.Lys177Asn) c.564A>C (p.Lys188Asn) c.541A>C n.669A>C c.528A>C (p.Lys176Asn) c.-266A>C (n.-266A>C) c.183A>C (p.Lys61Asn) c.669A>C (p.Lys223Asn) | |
8 | g.132175495T= | CA1820664531 | KCNQ3 | c.891A= (p.Lys297=) c.531A= (p.Lys177=) c.564A= (p.Lys188=) c.541A= n.669A= c.528A= (p.Lys176=) c.-266A= (n.-266A=) c.183A= (p.Lys61=) c.669A= (p.Lys223=) | |
8 | g.132175496T>A | CA372290386 | KCNQ3 | c.890A>T (p.Lys297Ile) c.530A>T (p.Lys177Ile) c.563A>T (p.Lys188Ile) c.540A>T n.668A>T c.527A>T (p.Lys176Ile) c.-267A>T (n.-267A>T) c.182A>T (p.Lys61Ile) c.668A>T (p.Lys223Ile) | |
8 | g.132175496T>C | CA372290387 | KCNQ3 | c.890A>G (p.Lys297Arg) c.530A>G (p.Lys177Arg) c.563A>G (p.Lys188Arg) c.540A>G n.668A>G c.527A>G (p.Lys176Arg) c.-267A>G (n.-267A>G) c.182A>G (p.Lys61Arg) c.668A>G (p.Lys223Arg) | |
8 | g.132175496T>G | CA372290388 | KCNQ3 | c.890A>C (p.Lys297Thr) c.530A>C (p.Lys177Thr) c.563A>C (p.Lys188Thr) c.540A>C n.668A>C c.527A>C (p.Lys176Thr) c.-267A>C (n.-267A>C) c.182A>C (p.Lys61Thr) c.668A>C (p.Lys223Thr) | |
8 | g.132175497T>A | CA372290391 | KCNQ3 | c.889A>T (p.Lys297Ter) c.529A>T (p.Lys177Ter) c.562A>T (p.Lys188Ter) c.539A>T n.667A>T c.526A>T (p.Lys176Ter) c.-268A>T (n.-268A>T) c.181A>T (p.Lys61Ter) c.667A>T (p.Lys223Ter) | |
8 | g.132175497T>C | CA372290390 | KCNQ3 | c.889A>G (p.Lys297Glu) c.529A>G (p.Lys177Glu) c.562A>G (p.Lys188Glu) c.539A>G n.667A>G c.526A>G (p.Lys176Glu) c.-268A>G (n.-268A>G) c.181A>G (p.Lys61Glu) c.667A>G (p.Lys223Glu) | ClinVar dbSNP gnomAD v4 |
8 | g.132175497T>G | CA372290389 | KCNQ3 | c.889A>C (p.Lys297Gln) c.529A>C (p.Lys177Gln) c.562A>C (p.Lys188Gln) c.539A>C n.667A>C c.526A>C (p.Lys176Gln) c.-268A>C (n.-268A>C) c.181A>C (p.Lys61Gln) c.667A>C (p.Lys223Gln) | |
8 | g.132175497T= | CA1820664532 | KCNQ3 | c.889A= (p.Lys297=) c.529A= (p.Lys177=) c.562A= (p.Lys188=) c.539A= n.667A= c.526A= (p.Lys176=) c.-268A= (n.-268A=) c.181A= (p.Lys61=) c.667A= (p.Lys223=) | |
8 | g.132175498C>A | CA372290392 | KCNQ3 | c.888G>T (p.Met296Ile) c.528G>T (p.Met176Ile) c.561G>T (p.Met187Ile) c.538G>T n.666G>T c.525G>T (p.Met175Ile) c.-269G>T (n.-269G>T) c.180G>T (p.Met60Ile) c.666G>T (p.Met222Ile) | |
8 | g.132175498C= | CA1820664533 | KCNQ3 | c.888G= (p.Met296=) c.528G= (p.Met176=) c.561G= (p.Met187=) c.538G= n.666G= c.525G= (p.Met175=) c.-269G= (n.-269G=) c.180G= (p.Met60=) c.666G= (p.Met222=) | |
8 | g.132175498C>G | CA372290393 | KCNQ3 | c.888G>C (p.Met296Ile) c.528G>C (p.Met176Ile) c.561G>C (p.Met187Ile) c.538G>C n.666G>C c.525G>C (p.Met175Ile) c.-269G>C (n.-269G>C) c.180G>C (p.Met60Ile) c.666G>C (p.Met222Ile) | |
8 | g.132175498C>T | CA372290394 | KCNQ3 | c.888G>A (p.Met296Ile) c.528G>A (p.Met176Ile) c.561G>A (p.Met187Ile) c.538G>A n.666G>A c.525G>A (p.Met175Ile) c.-269G>A (n.-269G>A) c.180G>A (p.Met60Ile) c.666G>A (p.Met222Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.132175499A>C | CA372290395 | KCNQ3 | c.887T>G (p.Met296Arg) c.527T>G (p.Met176Arg) c.560T>G (p.Met187Arg) c.537T>G n.665T>G c.524T>G (p.Met175Arg) c.-270T>G (n.-270T>G) c.179T>G (p.Met60Arg) c.665T>G (p.Met222Arg) | gnomAD v4 |
8 | g.132175499A>G | CA372290396 | KCNQ3 | c.887T>C (p.Met296Thr) c.527T>C (p.Met176Thr) c.560T>C (p.Met187Thr) c.537T>C n.665T>C c.524T>C (p.Met175Thr) c.-270T>C (n.-270T>C) c.179T>C (p.Met60Thr) c.665T>C (p.Met222Thr) | |
8 | g.132175499A>T | CA372290397 | KCNQ3 | c.887T>A (p.Met296Lys) c.527T>A (p.Met176Lys) c.560T>A (p.Met187Lys) c.537T>A n.665T>A c.524T>A (p.Met175Lys) c.-270T>A (n.-270T>A) c.179T>A (p.Met60Lys) c.665T>A (p.Met222Lys) | |
8 | g.132175500T>A | CA372290400 | KCNQ3 | c.886A>T (p.Met296Leu) c.526A>T (p.Met176Leu) c.559A>T (p.Met187Leu) c.536A>T n.664A>T c.523A>T (p.Met175Leu) c.-271A>T (n.-271A>T) c.178A>T (p.Met60Leu) c.664A>T (p.Met222Leu) | gnomAD v4 |
8 | g.132175500T>C | CA372290398 | KCNQ3 | c.886A>G (p.Met296Val) c.526A>G (p.Met176Val) c.559A>G (p.Met187Val) c.536A>G n.664A>G c.523A>G (p.Met175Val) c.-271A>G (n.-271A>G) c.178A>G (p.Met60Val) c.664A>G (p.Met222Val) | gnomAD v4 |
8 | g.132175500T>G | CA372290399 | KCNQ3 | c.886A>C (p.Met296Leu) c.526A>C (p.Met176Leu) c.559A>C (p.Met187Leu) c.536A>C n.664A>C c.523A>C (p.Met175Leu) c.-271A>C (n.-271A>C) c.178A>C (p.Met60Leu) c.664A>C (p.Met222Leu) | |
8 | g.132175501C>A | CA4880820 | KCNQ3 | c.885G>T (p.Glu295Asp) c.525G>T (p.Glu175Asp) c.558G>T (p.Glu186Asp) c.535G>T n.663G>T c.522G>T (p.Glu174Asp) c.-272G>T (n.-272G>T) c.177G>T (p.Glu59Asp) c.663G>T (p.Glu221Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.132175501C= | CA1820664534 | KCNQ3 | c.885G= (p.Glu295=) c.525G= (p.Glu175=) c.558G= (p.Glu186=) c.535G= n.663G= c.522G= (p.Glu174=) c.-272G= (n.-272G=) c.177G= (p.Glu59=) c.663G= (p.Glu221=) | |
8 | g.132175501C>G | CA372290401 | KCNQ3 | c.885G>C (p.Glu295Asp) c.525G>C (p.Glu175Asp) c.558G>C (p.Glu186Asp) c.535G>C n.663G>C c.522G>C (p.Glu174Asp) c.-272G>C (n.-272G>C) c.177G>C (p.Glu59Asp) c.663G>C (p.Glu221Asp) | |
8 | g.132175501C>T | CA463070366 | KCNQ3 | c.885G>A (p.Glu295=) c.525G>A (p.Glu175=) c.558G>A (p.Glu186=) c.535G>A n.663G>A c.522G>A (p.Glu174=) c.-272G>A (n.-272G>A) c.177G>A (p.Glu59=) c.663G>A (p.Glu221=) | |
8 | g.132175502T>A | CA372290402 | KCNQ3 | c.884A>T (p.Glu295Val) c.524A>T (p.Glu175Val) c.557A>T (p.Glu186Val) c.534A>T n.662A>T c.521A>T (p.Glu174Val) c.-273A>T (n.-273A>T) c.176A>T (p.Glu59Val) c.662A>T (p.Glu221Val) | gnomAD v4 |
8 | g.132175502T>C | CA372290403 | KCNQ3 | c.884A>G (p.Glu295Gly) c.524A>G (p.Glu175Gly) c.557A>G (p.Glu186Gly) c.534A>G n.662A>G c.521A>G (p.Glu174Gly) c.-273A>G (n.-273A>G) c.176A>G (p.Glu59Gly) c.662A>G (p.Glu221Gly) | |
8 | g.132175502T>G | CA372290404 | KCNQ3 | c.884A>C (p.Glu295Ala) c.524A>C (p.Glu175Ala) c.557A>C (p.Glu186Ala) c.534A>C n.662A>C c.521A>C (p.Glu174Ala) c.-273A>C (n.-273A>C) c.176A>C (p.Glu59Ala) c.662A>C (p.Glu221Ala) | |
8 | g.132175503C>A | CA372290405 | KCNQ3 | c.883G>T (p.Glu295Ter) c.523G>T (p.Glu175Ter) c.556G>T (p.Glu186Ter) c.533G>T n.661G>T c.520G>T (p.Glu174Ter) c.-274G>T (n.-274G>T) c.175G>T (p.Glu59Ter) c.661G>T (p.Glu221Ter) | |
8 | g.132175503C= | CA1820664535 | KCNQ3 | c.883G= (p.Glu295=) c.523G= (p.Glu175=) c.556G= (p.Glu186=) c.533G= n.661G= c.520G= (p.Glu174=) c.-274G= (n.-274G=) c.175G= (p.Glu59=) c.661G= (p.Glu221=) | |
8 | g.132175503C>G | CA4880821 | KCNQ3 | c.883G>C (p.Glu295Gln) c.523G>C (p.Glu175Gln) c.556G>C (p.Glu186Gln) c.533G>C n.661G>C c.520G>C (p.Glu174Gln) c.-274G>C (n.-274G>C) c.175G>C (p.Glu59Gln) c.661G>C (p.Glu221Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.132175503C>T | CA372290406 | KCNQ3 | c.883G>A (p.Glu295Lys) c.523G>A (p.Glu175Lys) c.556G>A (p.Glu186Lys) c.533G>A n.661G>A c.520G>A (p.Glu174Lys) c.-274G>A (n.-274G>A) c.175G>A (p.Glu59Lys) c.661G>A (p.Glu221Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
8 | g.132175504del | CA2688627392 | KCNQ3 | c.883del (p.Glu295ArgfsTer2) c.523del (p.Glu175ArgfsTer2) c.556del (p.Glu186ArgfsTer2) c.533del n.661del c.520del (p.Glu174ArgfsTer2) c.-274del (n.-274del) c.175del (p.Glu59ArgfsTer2) c.661del (p.Glu221ArgfsTer2) | gnomAD v4 |
8 | g.132175504C>A | CA372290407 | KCNQ3 | c.882G>T (p.Glu294Asp) c.522G>T (p.Glu174Asp) c.555G>T (p.Glu185Asp) c.532G>T n.660G>T c.519G>T (p.Glu173Asp) c.-275G>T (n.-275G>T) c.174G>T (p.Glu58Asp) c.660G>T (p.Glu220Asp) | |
8 | g.132175504C>G | CA372290408 | KCNQ3 | c.882G>C (p.Glu294Asp) c.522G>C (p.Glu174Asp) c.555G>C (p.Glu185Asp) c.532G>C n.660G>C c.519G>C (p.Glu173Asp) c.-275G>C (n.-275G>C) c.174G>C (p.Glu58Asp) c.660G>C (p.Glu220Asp) | |
8 | g.132175504C>T | CA463070367 | KCNQ3 | c.882G>A (p.Glu294=) c.522G>A (p.Glu174=) c.555G>A (p.Glu185=) c.532G>A n.660G>A c.519G>A (p.Glu173=) c.-275G>A (n.-275G>A) c.174G>A (p.Glu58=) c.660G>A (p.Glu220=) | gnomAD v4 |
8 | g.132175505T>A | CA372290409 | KCNQ3 | c.881A>T (p.Glu294Val) c.521A>T (p.Glu174Val) c.554A>T (p.Glu185Val) c.531A>T n.659A>T c.518A>T (p.Glu173Val) c.-276A>T (n.-276A>T) c.173A>T (p.Glu58Val) c.659A>T (p.Glu220Val) | |
8 | g.132175505T>C | CA372290410 | KCNQ3 | c.881A>G (p.Glu294Gly) c.521A>G (p.Glu174Gly) c.554A>G (p.Glu185Gly) c.531A>G n.659A>G c.518A>G (p.Glu173Gly) c.-276A>G (n.-276A>G) c.173A>G (p.Glu58Gly) c.659A>G (p.Glu220Gly) | |
8 | g.132175505T>G | CA372290411 | KCNQ3 | c.881A>C (p.Glu294Ala) c.521A>C (p.Glu174Ala) c.554A>C (p.Glu185Ala) c.531A>C n.659A>C c.518A>C (p.Glu173Ala) c.-276A>C (n.-276A>C) c.173A>C (p.Glu58Ala) c.659A>C (p.Glu220Ala) | |
8 | g.132175506C>A | CA372290412 | KCNQ3 | c.880G>T (p.Glu294Ter) c.520G>T (p.Glu174Ter) c.553G>T (p.Glu185Ter) c.530G>T n.658G>T c.517G>T (p.Glu173Ter) c.-277G>T (n.-277G>T) c.172G>T (p.Glu58Ter) c.658G>T (p.Glu220Ter) | |
8 | g.132175506C>G | CA372290413 | KCNQ3 | c.880G>C (p.Glu294Gln) c.520G>C (p.Glu174Gln) c.553G>C (p.Glu185Gln) c.530G>C n.658G>C c.517G>C (p.Glu173Gln) c.-277G>C (n.-277G>C) c.172G>C (p.Glu58Gln) c.658G>C (p.Glu220Gln) | |
8 | g.132175506C>T | CA372290414 | KCNQ3 | c.880G>A (p.Glu294Lys) c.520G>A (p.Glu174Lys) c.553G>A (p.Glu185Lys) c.530G>A n.658G>A c.517G>A (p.Glu173Lys) c.-277G>A (n.-277G>A) c.172G>A (p.Glu58Lys) c.658G>A (p.Glu220Lys) | gnomAD v4 |
8 | g.132175507T>A | CA463070370 | KCNQ3 | c.879A>T (p.Gly293=) c.519A>T (p.Gly173=) c.552A>T (p.Gly184=) c.529A>T n.657A>T c.516A>T (p.Gly172=) c.-278A>T (n.-278A>T) c.171A>T (p.Gly57=) c.657A>T (p.Gly219=) | |
8 | g.132175507T>C | CA463070369 | KCNQ3 | c.879A>G (p.Gly293=) c.519A>G (p.Gly173=) c.552A>G (p.Gly184=) c.529A>G n.657A>G c.516A>G (p.Gly172=) c.-278A>G (n.-278A>G) c.171A>G (p.Gly57=) c.657A>G (p.Gly219=) | COSMIC |
8 | g.132175507T>G | CA463070368 | KCNQ3 | c.879A>C (p.Gly293=) c.519A>C (p.Gly173=) c.552A>C (p.Gly184=) c.529A>C n.657A>C c.516A>C (p.Gly172=) c.-278A>C (n.-278A>C) c.171A>C (p.Gly57=) c.657A>C (p.Gly219=) | |
8 | g.132175508C>A | CA372290415 | KCNQ3 | c.878G>T (p.Gly293Val) c.518G>T (p.Gly173Val) c.551G>T (p.Gly184Val) c.528G>T n.656G>T c.515G>T (p.Gly172Val) c.-279G>T (n.-279G>T) c.170G>T (p.Gly57Val) c.656G>T (p.Gly219Val) | ClinVar dbSNP gnomAD v4 |
8 | g.132175508C= | CA1820664536 | KCNQ3 | c.878G= (p.Gly293=) c.518G= (p.Gly173=) c.551G= (p.Gly184=) c.528G= n.656G= c.515G= (p.Gly172=) c.-279G= (n.-279G=) c.170G= (p.Gly57=) c.656G= (p.Gly219=) | |
8 | g.132175508C>G | CA372290416 | KCNQ3 | c.878G>C (p.Gly293Ala) c.518G>C (p.Gly173Ala) c.551G>C (p.Gly184Ala) c.528G>C n.656G>C c.515G>C (p.Gly172Ala) c.-279G>C (n.-279G>C) c.170G>C (p.Gly57Ala) c.656G>C (p.Gly219Ala) | |
8 | g.132175508C>T | CA16618601 | KCNQ3 | c.878G>A (p.Gly293Glu) c.518G>A (p.Gly173Glu) c.551G>A (p.Gly184Glu) c.528G>A n.656G>A c.515G>A (p.Gly172Glu) c.-279G>A (n.-279G>A) c.170G>A (p.Gly57Glu) c.656G>A (p.Gly219Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |