Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.140695710T>C | CA563500230 | HARS2 | c.526-28T>C (n.526-28T>C) c.304-28T>C (n.304-28T>C) c.316-28T>C (n.316-28T>C) c.*104-28T>C (n.*104-28T>C) c.492-28T>C c.544-28T>C (n.544-28T>C) c.109-28T>C (n.109-28T>C) c.451-28T>C (n.451-28T>C) c.*326-28T>C (n.*326-28T>C) n.533-28T>C c.94-28T>C (n.94-28T>C) c.-209-28T>C (n.-209-28T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140695710T= | CA1586866680 | HARS2 | c.526-28T= (n.526-28T=) c.304-28T= (n.304-28T=) c.316-28T= (n.316-28T=) c.*104-28T= (n.*104-28T=) c.492-28T= c.544-28T= (n.544-28T=) c.109-28T= (n.109-28T=) c.451-28T= (n.451-28T=) c.*326-28T= (n.*326-28T=) n.533-28T= c.94-28T= (n.94-28T=) c.-209-28T= (n.-209-28T=) | |
5 | g.140695715dup | CA3444462 | HARS2 | c.526-23dup (n.526-23dup) c.304-23dup (n.304-23dup) c.316-23dup (n.316-23dup) c.*104-23dup (n.*104-23dup) c.492-23dup c.544-23dup (n.544-23dup) c.109-23dup (n.109-23dup) c.451-23dup (n.451-23dup) c.*326-23dup (n.*326-23dup) n.533-23dup c.94-23dup (n.94-23dup) c.-209-23dup (n.-209-23dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140695711T>G | CA2768651154 | HARS2 | c.526-27T>G (n.526-27T>G) c.304-27T>G (n.304-27T>G) c.316-27T>G (n.316-27T>G) c.*104-27T>G (n.*104-27T>G) c.492-27T>G c.544-27T>G (n.544-27T>G) c.109-27T>G (n.109-27T>G) c.451-27T>G (n.451-27T>G) c.*326-27T>G (n.*326-27T>G) n.533-27T>G c.94-27T>G (n.94-27T>G) c.-209-27T>G (n.-209-27T>G) | |
5 | g.140695714T>A | CA2675626031 | HARS2 | c.526-24T>A (n.526-24T>A) c.304-24T>A (n.304-24T>A) c.316-24T>A (n.316-24T>A) c.*104-24T>A (n.*104-24T>A) c.492-24T>A c.544-24T>A (n.544-24T>A) c.109-24T>A (n.109-24T>A) c.451-24T>A (n.451-24T>A) c.*326-24T>A (n.*326-24T>A) n.533-24T>A c.94-24T>A (n.94-24T>A) c.-209-24T>A (n.-209-24T>A) | gnomAD v4 |
5 | g.140695714_140695715insGG | CA2768651155 | HARS2 | c.526-24_526-23insGG (n.526-24_526-23insGG) c.304-24_304-23insGG (n.304-24_304-23insGG) c.316-24_316-23insGG (n.316-24_316-23insGG) c.*104-24_*104-23insGG (n.*104-24_*104-23insGG) c.492-24_492-23insGG c.544-24_544-23insGG (n.544-24_544-23insGG) c.109-24_109-23insGG (n.109-24_109-23insGG) c.451-24_451-23insGG (n.451-24_451-23insGG) c.*326-24_*326-23insGG (n.*326-24_*326-23insGG) n.533-24_533-23insGG c.94-24_94-23insGG (n.94-24_94-23insGG) c.-209-24_-209-23insGG (n.-209-24_-209-23insGG) | |
5 | g.140695716C= | CA1586866683 | HARS2 | c.526-22C= (n.526-22C=) c.304-22C= (n.304-22C=) c.316-22C= (n.316-22C=) c.*104-22C= (n.*104-22C=) c.492-22C= c.544-22C= (n.544-22C=) c.109-22C= (n.109-22C=) c.451-22C= (n.451-22C=) c.*326-22C= (n.*326-22C=) n.533-22C= c.94-22C= (n.94-22C=) c.-209-22C= (n.-209-22C=) | |
5 | g.140695716C>T | CA1082227485 | HARS2 | c.526-22C>T (n.526-22C>T) c.304-22C>T (n.304-22C>T) c.316-22C>T (n.316-22C>T) c.*104-22C>T (n.*104-22C>T) c.492-22C>T c.544-22C>T (n.544-22C>T) c.109-22C>T (n.109-22C>T) c.451-22C>T (n.451-22C>T) c.*326-22C>T (n.*326-22C>T) n.533-22C>T c.94-22C>T (n.94-22C>T) c.-209-22C>T (n.-209-22C>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.140695716_140695721del | CA2768651156 | HARS2 | c.526-22_526-17del (n.526-22_526-17del) c.304-22_304-17del (n.304-22_304-17del) c.316-22_316-17del (n.316-22_316-17del) c.*104-22_*104-17del (n.*104-22_*104-17del) c.492-22_492-17del c.544-22_544-17del (n.544-22_544-17del) c.109-22_109-17del (n.109-22_109-17del) c.451-22_451-17del (n.451-22_451-17del) c.*326-22_*326-17del (n.*326-22_*326-17del) n.533-22_533-17del c.94-22_94-17del (n.94-22_94-17del) c.-209-22_-209-17del (n.-209-22_-209-17del) | |
5 | g.140695716_140695717insAT | CA3444463 | HARS2 | c.526-22_526-21insAT (n.526-22_526-21insAT) c.304-22_304-21insAT (n.304-22_304-21insAT) c.316-22_316-21insAT (n.316-22_316-21insAT) c.*104-22_*104-21insAT (n.*104-22_*104-21insAT) c.492-22_492-21insAT c.544-22_544-21insAT (n.544-22_544-21insAT) c.109-22_109-21insAT (n.109-22_109-21insAT) c.451-22_451-21insAT (n.451-22_451-21insAT) c.*326-22_*326-21insAT (n.*326-22_*326-21insAT) n.533-22_533-21insAT c.94-22_94-21insAT (n.94-22_94-21insAT) c.-209-22_-209-21insAT (n.-209-22_-209-21insAT) | dbSNP ExAC |
5 | g.140695717C= | CA1586866690 | HARS2 | c.526-21C= (n.526-21C=) c.304-21C= (n.304-21C=) c.316-21C= (n.316-21C=) c.*104-21C= (n.*104-21C=) c.492-21C= c.544-21C= (n.544-21C=) c.109-21C= (n.109-21C=) c.451-21C= (n.451-21C=) c.*326-21C= (n.*326-21C=) n.533-21C= c.94-21C= (n.94-21C=) c.-209-21C= (n.-209-21C=) | |
5 | g.140695717C>G | CA1586866692 | HARS2 | c.526-21C>G (n.526-21C>G) c.304-21C>G (n.304-21C>G) c.316-21C>G (n.316-21C>G) c.*104-21C>G (n.*104-21C>G) c.492-21C>G c.544-21C>G (n.544-21C>G) c.109-21C>G (n.109-21C>G) c.451-21C>G (n.451-21C>G) c.*326-21C>G (n.*326-21C>G) n.533-21C>G c.94-21C>G (n.94-21C>G) c.-209-21C>G (n.-209-21C>G) | dbSNP gnomAD v4 |
5 | g.140695717_140695718insTCTACTCAGCTCCTGCTGAGCTCTGGGGCTCT | CA3444464 | HARS2 | c.526-21_526-20insTCTACTCAGCTCCTGCTGAGCTCTGGGGCTCT (n.526-21_526-20insTCTACTCAGCTCCTGCTGAGCTCTGGGGCTCT) c.304-21_304-20insTCTACTCAGCTCCTGCTGAGCTCTGGGGCTCT (n.304-21_304-20insTCTACTCAGCTCCTGCTGAGCTCTGGGGCTCT) c.316-21_316-20insTCTACTCAGCTCCTGCTGAGCTCTGGGGCTCT (n.316-21_316-20insTCTACTCAGCTCCTGCTGAGCTCTGGGGCTCT) c.*104-21_*104-20insTCTACTCAGCTCCTGCTGAGCTCTGGGGCTCT (n.*104-21_*104-20insTCTACTCAGCTCCTGCTGAGCTCTGGGGCTCT) c.492-21_492-20insTCTACTCAGCTCCTGCTGAGCTCTGGGGCTCT c.544-21_544-20insTCTACTCAGCTCCTGCTGAGCTCTGGGGCTCT (n.544-21_544-20insTCTACTCAGCTCCTGCTGAGCTCTGGGGCTCT) c.109-21_109-20insTCTACTCAGCTCCTGCTGAGCTCTGGGGCTCT (n.109-21_109-20insTCTACTCAGCTCCTGCTGAGCTCTGGGGCTCT) c.451-21_451-20insTCTACTCAGCTCCTGCTGAGCTCTGGGGCTCT (n.451-21_451-20insTCTACTCAGCTCCTGCTGAGCTCTGGGGCTCT) c.*326-21_*326-20insTCTACTCAGCTCCTGCTGAGCTCTGGGGCTCT (n.*326-21_*326-20insTCTACTCAGCTCCTGCTGAGCTCTGGGGCTCT) n.533-21_533-20insTCTACTCAGCTCCTGCTGAGCTCTGGGGCTCT c.94-21_94-20insTCTACTCAGCTCCTGCTGAGCTCTGGGGCTCT (n.94-21_94-20insTCTACTCAGCTCCTGCTGAGCTCTGGGGCTCT) c.-209-21_-209-20insTCTACTCAGCTCCTGCTGAGCTCTGGGGCTCT (n.-209-21_-209-20insTCTACTCAGCTCCTGCTGAGCTCTGGGGCTCT) | dbSNP ExAC |
5 | g.140695719_140695721dup | CA2675626032 | HARS2 | c.526-19_526-17dup (n.526-19_526-17dup) c.304-19_304-17dup (n.304-19_304-17dup) c.316-19_316-17dup (n.316-19_316-17dup) c.*104-19_*104-17dup (n.*104-19_*104-17dup) c.492-19_492-17dup c.544-19_544-17dup (n.544-19_544-17dup) c.109-19_109-17dup (n.109-19_109-17dup) c.451-19_451-17dup (n.451-19_451-17dup) c.*326-19_*326-17dup (n.*326-19_*326-17dup) n.533-19_533-17dup c.94-19_94-17dup (n.94-19_94-17dup) c.-209-19_-209-17dup (n.-209-19_-209-17dup) | gnomAD v4 |
5 | g.140695719A= | CA1586866702 | HARS2 | c.526-19A= (n.526-19A=) c.304-19A= (n.304-19A=) c.316-19A= (n.316-19A=) c.*104-19A= (n.*104-19A=) c.492-19A= c.544-19A= (n.544-19A=) c.109-19A= (n.109-19A=) c.451-19A= (n.451-19A=) c.*326-19A= (n.*326-19A=) n.533-19A= c.94-19A= (n.94-19A=) c.-209-19A= (n.-209-19A=) | |
5 | g.140695719A>C | CA1586866705 | HARS2 | c.526-19A>C (n.526-19A>C) c.304-19A>C (n.304-19A>C) c.316-19A>C (n.316-19A>C) c.*104-19A>C (n.*104-19A>C) c.492-19A>C c.544-19A>C (n.544-19A>C) c.109-19A>C (n.109-19A>C) c.451-19A>C (n.451-19A>C) c.*326-19A>C (n.*326-19A>C) n.533-19A>C c.94-19A>C (n.94-19A>C) c.-209-19A>C (n.-209-19A>C) | dbSNP |
5 | g.140695719A>G | CA1586866707 | HARS2 | c.526-19A>G (n.526-19A>G) c.304-19A>G (n.304-19A>G) c.316-19A>G (n.316-19A>G) c.*104-19A>G (n.*104-19A>G) c.492-19A>G c.544-19A>G (n.544-19A>G) c.109-19A>G (n.109-19A>G) c.451-19A>G (n.451-19A>G) c.*326-19A>G (n.*326-19A>G) n.533-19A>G c.94-19A>G (n.94-19A>G) c.-209-19A>G (n.-209-19A>G) | dbSNP |
5 | g.140695721C>A | CA2675626033 | HARS2 | c.526-17C>A (n.526-17C>A) c.304-17C>A (n.304-17C>A) c.316-17C>A (n.316-17C>A) c.*104-17C>A (n.*104-17C>A) c.492-17C>A c.544-17C>A (n.544-17C>A) c.109-17C>A (n.109-17C>A) c.451-17C>A (n.451-17C>A) c.*326-17C>A (n.*326-17C>A) n.533-17C>A c.94-17C>A (n.94-17C>A) c.-209-17C>A (n.-209-17C>A) | gnomAD v4 |
5 | g.140695721C= | CA1586866708 | HARS2 | c.526-17C= (n.526-17C=) c.304-17C= (n.304-17C=) c.316-17C= (n.316-17C=) c.*104-17C= (n.*104-17C=) c.492-17C= c.544-17C= (n.544-17C=) c.109-17C= (n.109-17C=) c.451-17C= (n.451-17C=) c.*326-17C= (n.*326-17C=) n.533-17C= c.94-17C= (n.94-17C=) c.-209-17C= (n.-209-17C=) | |
5 | g.140695721C>G | CA2675626034 | HARS2 | c.526-17C>G (n.526-17C>G) c.304-17C>G (n.304-17C>G) c.316-17C>G (n.316-17C>G) c.*104-17C>G (n.*104-17C>G) c.492-17C>G c.544-17C>G (n.544-17C>G) c.109-17C>G (n.109-17C>G) c.451-17C>G (n.451-17C>G) c.*326-17C>G (n.*326-17C>G) n.533-17C>G c.94-17C>G (n.94-17C>G) c.-209-17C>G (n.-209-17C>G) | gnomAD v4 |
5 | g.140695721C>T | CA3444465 | HARS2 | c.526-17C>T (n.526-17C>T) c.304-17C>T (n.304-17C>T) c.316-17C>T (n.316-17C>T) c.*104-17C>T (n.*104-17C>T) c.492-17C>T c.544-17C>T (n.544-17C>T) c.109-17C>T (n.109-17C>T) c.451-17C>T (n.451-17C>T) c.*326-17C>T (n.*326-17C>T) n.533-17C>T c.94-17C>T (n.94-17C>T) c.-209-17C>T (n.-209-17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140695722T>C | CA128341912 | HARS2 | c.526-16T>C (n.526-16T>C) c.304-16T>C (n.304-16T>C) c.316-16T>C (n.316-16T>C) c.*104-16T>C (n.*104-16T>C) c.492-16T>C c.544-16T>C (n.544-16T>C) c.109-16T>C (n.109-16T>C) c.451-16T>C (n.451-16T>C) c.*326-16T>C (n.*326-16T>C) n.533-16T>C c.94-16T>C (n.94-16T>C) c.-209-16T>C (n.-209-16T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.140695722T= | CA1586866710 | HARS2 | c.526-16T= (n.526-16T=) c.304-16T= (n.304-16T=) c.316-16T= (n.316-16T=) c.*104-16T= (n.*104-16T=) c.492-16T= c.544-16T= (n.544-16T=) c.109-16T= (n.109-16T=) c.451-16T= (n.451-16T=) c.*326-16T= (n.*326-16T=) n.533-16T= c.94-16T= (n.94-16T=) c.-209-16T= (n.-209-16T=) | |
5 | g.140695726del | CA2675626035 | HARS2 | c.526-12del (n.526-12del) c.304-12del (n.304-12del) c.316-12del (n.316-12del) c.*104-12del (n.*104-12del) c.492-12del c.544-12del (n.544-12del) c.109-12del (n.109-12del) c.451-12del (n.451-12del) c.*326-12del (n.*326-12del) n.533-12del c.94-12del (n.94-12del) c.-209-12del (n.-209-12del) | gnomAD v4 |
5 | g.140695725T>C | CA2675626036 | HARS2 | c.526-13T>C (n.526-13T>C) c.304-13T>C (n.304-13T>C) c.316-13T>C (n.316-13T>C) c.*104-13T>C (n.*104-13T>C) c.492-13T>C c.544-13T>C (n.544-13T>C) c.109-13T>C (n.109-13T>C) c.451-13T>C (n.451-13T>C) c.*326-13T>C (n.*326-13T>C) n.533-13T>C c.94-13T>C (n.94-13T>C) c.-209-13T>C (n.-209-13T>C) | gnomAD v4 |
5 | g.140695726T>C | CA2551673720 | HARS2 | c.526-12T>C (n.526-12T>C) c.304-12T>C (n.304-12T>C) c.316-12T>C (n.316-12T>C) c.*104-12T>C (n.*104-12T>C) c.492-12T>C c.544-12T>C (n.544-12T>C) c.109-12T>C (n.109-12T>C) c.451-12T>C (n.451-12T>C) c.*326-12T>C (n.*326-12T>C) n.533-12T>C c.94-12T>C (n.94-12T>C) c.-209-12T>C (n.-209-12T>C) | |
5 | g.140695726T>G | CA2675626037 | HARS2 | c.526-12T>G (n.526-12T>G) c.304-12T>G (n.304-12T>G) c.316-12T>G (n.316-12T>G) c.*104-12T>G (n.*104-12T>G) c.492-12T>G c.544-12T>G (n.544-12T>G) c.109-12T>G (n.109-12T>G) c.451-12T>G (n.451-12T>G) c.*326-12T>G (n.*326-12T>G) n.533-12T>G c.94-12T>G (n.94-12T>G) c.-209-12T>G (n.-209-12T>G) | gnomAD v4 |
5 | g.140695727C>A | CA2768651157 | HARS2 | c.526-11C>A (n.526-11C>A) c.304-11C>A (n.304-11C>A) c.316-11C>A (n.316-11C>A) c.*104-11C>A (n.*104-11C>A) c.492-11C>A c.544-11C>A (n.544-11C>A) c.109-11C>A (n.109-11C>A) c.451-11C>A (n.451-11C>A) c.*326-11C>A (n.*326-11C>A) n.533-11C>A c.94-11C>A (n.94-11C>A) c.-209-11C>A (n.-209-11C>A) | |
5 | g.140695727C>G | CA2675626038 | HARS2 | c.526-11C>G (n.526-11C>G) c.304-11C>G (n.304-11C>G) c.316-11C>G (n.316-11C>G) c.*104-11C>G (n.*104-11C>G) c.492-11C>G c.544-11C>G (n.544-11C>G) c.109-11C>G (n.109-11C>G) c.451-11C>G (n.451-11C>G) c.*326-11C>G (n.*326-11C>G) n.533-11C>G c.94-11C>G (n.94-11C>G) c.-209-11C>G (n.-209-11C>G) | gnomAD v4 |
5 | g.140695727C>T | CA2768651158 | HARS2 | c.526-11C>T (n.526-11C>T) c.304-11C>T (n.304-11C>T) c.316-11C>T (n.316-11C>T) c.*104-11C>T (n.*104-11C>T) c.492-11C>T c.544-11C>T (n.544-11C>T) c.109-11C>T (n.109-11C>T) c.451-11C>T (n.451-11C>T) c.*326-11C>T (n.*326-11C>T) n.533-11C>T c.94-11C>T (n.94-11C>T) c.-209-11C>T (n.-209-11C>T) | |
5 | g.140695729T>C | CA2578428447 | HARS2 | c.526-9T>C (n.526-9T>C) c.304-9T>C (n.304-9T>C) c.316-9T>C (n.316-9T>C) c.*104-9T>C (n.*104-9T>C) c.492-9T>C c.544-9T>C (n.544-9T>C) c.109-9T>C (n.109-9T>C) c.451-9T>C (n.451-9T>C) c.*326-9T>C (n.*326-9T>C) n.533-9T>C c.94-9T>C (n.94-9T>C) c.-209-9T>C (n.-209-9T>C) | |
5 | g.140695730T>C | CA563500231 | HARS2 | c.526-8T>C (n.526-8T>C) c.304-8T>C (n.304-8T>C) c.316-8T>C (n.316-8T>C) c.*104-8T>C (n.*104-8T>C) c.492-8T>C c.544-8T>C (n.544-8T>C) c.109-8T>C (n.109-8T>C) c.451-8T>C (n.451-8T>C) c.*326-8T>C (n.*326-8T>C) n.533-8T>C c.94-8T>C (n.94-8T>C) c.-209-8T>C (n.-209-8T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140695730T= | CA1586866713 | HARS2 | c.526-8T= (n.526-8T=) c.304-8T= (n.304-8T=) c.316-8T= (n.316-8T=) c.*104-8T= (n.*104-8T=) c.492-8T= c.544-8T= (n.544-8T=) c.109-8T= (n.109-8T=) c.451-8T= (n.451-8T=) c.*326-8T= (n.*326-8T=) n.533-8T= c.94-8T= (n.94-8T=) c.-209-8T= (n.-209-8T=) | |
5 | g.140695732C>A | CA1586866717 | HARS2 | c.526-6C>A (n.526-6C>A) c.304-6C>A (n.304-6C>A) c.316-6C>A (n.316-6C>A) c.*104-6C>A (n.*104-6C>A) c.492-6C>A c.544-6C>A (n.544-6C>A) c.109-6C>A (n.109-6C>A) c.451-6C>A (n.451-6C>A) c.*326-6C>A (n.*326-6C>A) n.533-6C>A c.94-6C>A (n.94-6C>A) c.-209-6C>A (n.-209-6C>A) | dbSNP gnomAD v4 |
5 | g.140695732C= | CA1586866715 | HARS2 | c.526-6C= (n.526-6C=) c.304-6C= (n.304-6C=) c.316-6C= (n.316-6C=) c.*104-6C= (n.*104-6C=) c.492-6C= c.544-6C= (n.544-6C=) c.109-6C= (n.109-6C=) c.451-6C= (n.451-6C=) c.*326-6C= (n.*326-6C=) n.533-6C= c.94-6C= (n.94-6C=) c.-209-6C= (n.-209-6C=) | |
5 | g.140695734G>A | CA1586866721 | HARS2 | c.526-4G>A (n.526-4G>A) c.304-4G>A (n.304-4G>A) c.316-4G>A (n.316-4G>A) c.*104-4G>A (n.*104-4G>A) c.492-4G>A c.544-4G>A (n.544-4G>A) c.109-4G>A (n.109-4G>A) c.451-4G>A (n.451-4G>A) c.*326-4G>A (n.*326-4G>A) n.533-4G>A c.94-4G>A (n.94-4G>A) c.-209-4G>A (n.-209-4G>A) | dbSNP gnomAD v4 |
5 | g.140695734G= | CA1586866720 | HARS2 | c.526-4G= (n.526-4G=) c.304-4G= (n.304-4G=) c.316-4G= (n.316-4G=) c.*104-4G= (n.*104-4G=) c.492-4G= c.544-4G= (n.544-4G=) c.109-4G= (n.109-4G=) c.451-4G= (n.451-4G=) c.*326-4G= (n.*326-4G=) n.533-4G= c.94-4G= (n.94-4G=) c.-209-4G= (n.-209-4G=) | |
5 | g.140695734G>T | CA2675626039 | HARS2 | c.526-4G>T (n.526-4G>T) c.304-4G>T (n.304-4G>T) c.316-4G>T (n.316-4G>T) c.*104-4G>T (n.*104-4G>T) c.492-4G>T c.544-4G>T (n.544-4G>T) c.109-4G>T (n.109-4G>T) c.451-4G>T (n.451-4G>T) c.*326-4G>T (n.*326-4G>T) n.533-4G>T c.94-4G>T (n.94-4G>T) c.-209-4G>T (n.-209-4G>T) | gnomAD v4 |
5 | g.140695736A= | CA1586866726 | HARS2 | c.526-2A= (n.526-2A=) c.304-2A= (n.304-2A=) c.316-2A= (n.316-2A=) c.*104-2A= (n.*104-2A=) c.492-2A= c.544-2A= (n.544-2A=) c.109-2A= (n.109-2A=) c.451-2A= (n.451-2A=) c.*326-2A= (n.*326-2A=) n.533-2A= c.94-2A= (n.94-2A=) c.-209-2A= (n.-209-2A=) | |
5 | g.140695736A>C | CA361197870 | HARS2 | c.526-2A>C (n.526-2A>C) c.304-2A>C (n.304-2A>C) c.316-2A>C (n.316-2A>C) c.*104-2A>C (n.*104-2A>C) c.492-2A>C c.544-2A>C (n.544-2A>C) c.109-2A>C (n.109-2A>C) c.451-2A>C (n.451-2A>C) c.*326-2A>C (n.*326-2A>C) n.533-2A>C c.94-2A>C (n.94-2A>C) c.-209-2A>C (n.-209-2A>C) | |
5 | g.140695736A>G | CA361197876 | HARS2 | c.526-2A>G (n.526-2A>G) c.304-2A>G (n.304-2A>G) c.316-2A>G (n.316-2A>G) c.*104-2A>G (n.*104-2A>G) c.492-2A>G c.544-2A>G (n.544-2A>G) c.109-2A>G (n.109-2A>G) c.451-2A>G (n.451-2A>G) c.*326-2A>G (n.*326-2A>G) n.533-2A>G c.94-2A>G (n.94-2A>G) c.-209-2A>G (n.-209-2A>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.140695736A>T | CA361197873 | HARS2 | c.526-2A>T (n.526-2A>T) c.304-2A>T (n.304-2A>T) c.316-2A>T (n.316-2A>T) c.*104-2A>T (n.*104-2A>T) c.492-2A>T c.544-2A>T (n.544-2A>T) c.109-2A>T (n.109-2A>T) c.451-2A>T (n.451-2A>T) c.*326-2A>T (n.*326-2A>T) n.533-2A>T c.94-2A>T (n.94-2A>T) c.-209-2A>T (n.-209-2A>T) | |
5 | g.140695737G>A | CA361197880 | HARS2 | c.526-1G>A (n.526-1G>A) c.304-1G>A (n.304-1G>A) c.316-1G>A (n.316-1G>A) c.*104-1G>A (n.*104-1G>A) c.492-1G>A c.544-1G>A (n.544-1G>A) c.109-1G>A (n.109-1G>A) c.451-1G>A (n.451-1G>A) c.*326-1G>A (n.*326-1G>A) n.533-1G>A c.94-1G>A (n.94-1G>A) c.-209-1G>A (n.-209-1G>A) | |
5 | g.140695737G>C | CA361197884 | HARS2 | c.526-1G>C (n.526-1G>C) c.304-1G>C (n.304-1G>C) c.316-1G>C (n.316-1G>C) c.*104-1G>C (n.*104-1G>C) c.492-1G>C c.544-1G>C (n.544-1G>C) c.109-1G>C (n.109-1G>C) c.451-1G>C (n.451-1G>C) c.*326-1G>C (n.*326-1G>C) n.533-1G>C c.94-1G>C (n.94-1G>C) c.-209-1G>C (n.-209-1G>C) | |
5 | g.140695737G>T | CA361197887 | HARS2 | c.526-1G>T (n.526-1G>T) c.304-1G>T (n.304-1G>T) c.316-1G>T (n.316-1G>T) c.*104-1G>T (n.*104-1G>T) c.492-1G>T c.544-1G>T (n.544-1G>T) c.109-1G>T (n.109-1G>T) c.451-1G>T (n.451-1G>T) c.*326-1G>T (n.*326-1G>T) n.533-1G>T c.94-1G>T (n.94-1G>T) c.-209-1G>T (n.-209-1G>T) | |
5 | g.140695738G>A | CA361197891 | HARS2 | c.526G>A (p.Asp176Asn) c.304G>A (p.Asp102Asn) c.316G>A (p.Asp106Asn) c.*104G>A (n.*104G>A) c.492G>A c.544G>A (p.Asp182Asn) c.109G>A (p.Asp37Asn) c.451G>A (p.Asp151Asn) c.*326G>A (n.*326G>A) n.533G>A c.94G>A (p.Asp32Asn) c.-209G>A (n.-209G>A) | |
5 | g.140695738G>C | CA3444466 | HARS2 | c.526G>C (p.Asp176His) c.304G>C (p.Asp102His) c.316G>C (p.Asp106His) c.*104G>C (n.*104G>C) c.492G>C c.544G>C (p.Asp182His) c.109G>C (p.Asp37His) c.451G>C (p.Asp151His) c.*326G>C (n.*326G>C) n.533G>C c.94G>C (p.Asp32His) c.-209G>C (n.-209G>C) | dbSNP ExAC |
5 | g.140695738G= | CA1586866731 | HARS2 | c.526G= (p.Asp176=) c.304G= (p.Asp102=) c.316G= (p.Asp106=) c.*104G= (n.*104G=) c.492G= c.544G= (p.Asp182=) c.109G= (p.Asp37=) c.451G= (p.Asp151=) c.*326G= (n.*326G=) n.533G= c.94G= (p.Asp32=) c.-209G= (n.-209G=) | |
5 | g.140695738G>T | CA361197894 | HARS2 | c.526G>T (p.Asp176Tyr) c.304G>T (p.Asp102Tyr) c.316G>T (p.Asp106Tyr) c.*104G>T (n.*104G>T) c.492G>T c.544G>T (p.Asp182Tyr) c.109G>T (p.Asp37Tyr) c.451G>T (p.Asp151Tyr) c.*326G>T (n.*326G>T) n.533G>T c.94G>T (p.Asp32Tyr) c.-209G>T (n.-209G>T) | dbSNP |
5 | g.140695739A>C | CA361197899 | HARS2 | c.527A>C (p.Asp176Ala) c.305A>C (p.Asp102Ala) c.317A>C (p.Asp106Ala) c.*105A>C (n.*105A>C) c.493A>C c.545A>C (p.Asp182Ala) c.110A>C (p.Asp37Ala) c.452A>C (p.Asp151Ala) c.*327A>C (n.*327A>C) n.534A>C c.95A>C (p.Asp32Ala) c.-208A>C (n.-208A>C) | |
5 | g.140695739A>G | CA361197901 | HARS2 | c.527A>G (p.Asp176Gly) c.305A>G (p.Asp102Gly) c.317A>G (p.Asp106Gly) c.*105A>G (n.*105A>G) c.493A>G c.545A>G (p.Asp182Gly) c.110A>G (p.Asp37Gly) c.452A>G (p.Asp151Gly) c.*327A>G (n.*327A>G) n.534A>G c.95A>G (p.Asp32Gly) c.-208A>G (n.-208A>G) | |
5 | g.140695739A>T | CA361197903 | HARS2 | c.527A>T (p.Asp176Val) c.305A>T (p.Asp102Val) c.317A>T (p.Asp106Val) c.*105A>T (n.*105A>T) c.493A>T c.545A>T (p.Asp182Val) c.110A>T (p.Asp37Val) c.452A>T (p.Asp151Val) c.*327A>T (n.*327A>T) n.534A>T c.95A>T (p.Asp32Val) c.-208A>T (n.-208A>T) | |
5 | g.140695740T>A | CA361197906 | HARS2 | c.528T>A (p.Asp176Glu) c.306T>A (p.Asp102Glu) c.318T>A (p.Asp106Glu) c.*106T>A (n.*106T>A) c.494T>A c.546T>A (p.Asp182Glu) c.111T>A (p.Asp37Glu) c.453T>A (p.Asp151Glu) c.*328T>A (n.*328T>A) n.535T>A c.96T>A (p.Asp32Glu) c.-207T>A (n.-207T>A) | |
5 | g.140695740T>C | CA446804353 | HARS2 | c.528T>C (p.Asp176=) c.306T>C (p.Asp102=) c.318T>C (p.Asp106=) c.*106T>C (n.*106T>C) c.494T>C c.546T>C (p.Asp182=) c.111T>C (p.Asp37=) c.453T>C (p.Asp151=) c.*328T>C (n.*328T>C) n.535T>C c.96T>C (p.Asp32=) c.-207T>C (n.-207T>C) | |
5 | g.140695740T>G | CA361197908 | HARS2 | c.528T>G (p.Asp176Glu) c.306T>G (p.Asp102Glu) c.318T>G (p.Asp106Glu) c.*106T>G (n.*106T>G) c.494T>G c.546T>G (p.Asp182Glu) c.111T>G (p.Asp37Glu) c.453T>G (p.Asp151Glu) c.*328T>G (n.*328T>G) n.535T>G c.96T>G (p.Asp32Glu) c.-207T>G (n.-207T>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.140695740T= | CA1586866740 | HARS2 | c.528T= (p.Asp176=) c.306T= (p.Asp102=) c.318T= (p.Asp106=) c.*106T= (n.*106T=) c.494T= c.546T= (p.Asp182=) c.111T= (p.Asp37=) c.453T= (p.Asp151=) c.*328T= (n.*328T=) n.535T= c.96T= (p.Asp32=) c.-207T= (n.-207T=) | |
5 | g.140695741T>A | CA361197916 | HARS2 | c.529T>A (p.Phe177Ile) c.307T>A (p.Phe103Ile) c.319T>A (p.Phe107Ile) c.*107T>A (n.*107T>A) c.495T>A c.547T>A (p.Phe183Ile) c.112T>A (p.Phe38Ile) c.454T>A (p.Phe152Ile) c.*329T>A (n.*329T>A) n.536T>A c.97T>A (p.Phe33Ile) c.-206T>A (n.-206T>A) | |
5 | g.140695741T>C | CA361197913 | HARS2 | c.529T>C (p.Phe177Leu) c.307T>C (p.Phe103Leu) c.319T>C (p.Phe107Leu) c.*107T>C (n.*107T>C) c.495T>C c.547T>C (p.Phe183Leu) c.112T>C (p.Phe38Leu) c.454T>C (p.Phe152Leu) c.*329T>C (n.*329T>C) n.536T>C c.97T>C (p.Phe33Leu) c.-206T>C (n.-206T>C) | |
5 | g.140695741T>G | CA361197911 | HARS2 | c.529T>G (p.Phe177Val) c.307T>G (p.Phe103Val) c.319T>G (p.Phe107Val) c.*107T>G (n.*107T>G) c.495T>G c.547T>G (p.Phe183Val) c.112T>G (p.Phe38Val) c.454T>G (p.Phe152Val) c.*329T>G (n.*329T>G) n.536T>G c.97T>G (p.Phe33Val) c.-206T>G (n.-206T>G) | |
5 | g.140695742T>A | CA361197920 | HARS2 | c.530T>A (p.Phe177Tyr) c.308T>A (p.Phe103Tyr) c.320T>A (p.Phe107Tyr) c.*108T>A (n.*108T>A) c.496T>A c.548T>A (p.Phe183Tyr) c.113T>A (p.Phe38Tyr) c.455T>A (p.Phe152Tyr) c.*330T>A (n.*330T>A) n.537T>A c.98T>A (p.Phe33Tyr) c.-205T>A (n.-205T>A) | |
5 | g.140695742T>C | CA361197921 | HARS2 | c.530T>C (p.Phe177Ser) c.308T>C (p.Phe103Ser) c.320T>C (p.Phe107Ser) c.*108T>C (n.*108T>C) c.496T>C c.548T>C (p.Phe183Ser) c.113T>C (p.Phe38Ser) c.455T>C (p.Phe152Ser) c.*330T>C (n.*330T>C) n.537T>C c.98T>C (p.Phe33Ser) c.-205T>C (n.-205T>C) | |
5 | g.140695742T>G | CA361197926 | HARS2 | c.530T>G (p.Phe177Cys) c.308T>G (p.Phe103Cys) c.320T>G (p.Phe107Cys) c.*108T>G (n.*108T>G) c.496T>G c.548T>G (p.Phe183Cys) c.113T>G (p.Phe38Cys) c.455T>G (p.Phe152Cys) c.*330T>G (n.*330T>G) n.537T>G c.98T>G (p.Phe33Cys) c.-205T>G (n.-205T>G) | |
5 | g.140695743T>A | CA361197930 | HARS2 | c.531T>A (p.Phe177Leu) c.309T>A (p.Phe103Leu) c.321T>A (p.Phe107Leu) c.*109T>A (n.*109T>A) c.497T>A c.549T>A (p.Phe183Leu) c.114T>A (p.Phe38Leu) c.456T>A (p.Phe152Leu) c.*331T>A (n.*331T>A) n.538T>A c.99T>A (p.Phe33Leu) c.-204T>A (n.-204T>A) | |
5 | g.140695743T>C | CA446804360 | HARS2 | c.531T>C (p.Phe177=) c.309T>C (p.Phe103=) c.321T>C (p.Phe107=) c.*109T>C (n.*109T>C) c.497T>C c.549T>C (p.Phe183=) c.114T>C (p.Phe38=) c.456T>C (p.Phe152=) c.*331T>C (n.*331T>C) n.538T>C c.99T>C (p.Phe33=) c.-204T>C (n.-204T>C) | |
5 | g.140695743T>G | CA361197933 | HARS2 | c.531T>G (p.Phe177Leu) c.309T>G (p.Phe103Leu) c.321T>G (p.Phe107Leu) c.*109T>G (n.*109T>G) c.497T>G c.549T>G (p.Phe183Leu) c.114T>G (p.Phe38Leu) c.456T>G (p.Phe152Leu) c.*331T>G (n.*331T>G) n.538T>G c.99T>G (p.Phe33Leu) c.-204T>G (n.-204T>G) | |
5 | g.140695744G>A | CA361197936 | HARS2 | c.532G>A (p.Asp178Asn) c.310G>A (p.Asp104Asn) c.322G>A (p.Asp108Asn) c.*110G>A (n.*110G>A) c.498G>A c.550G>A (p.Asp184Asn) c.115G>A (p.Asp39Asn) c.457G>A (p.Asp153Asn) c.*332G>A (n.*332G>A) n.539G>A c.100G>A (p.Asp34Asn) c.-203G>A (n.-203G>A) | |
5 | g.140695744G>C | CA361197939 | HARS2 | c.532G>C (p.Asp178His) c.310G>C (p.Asp104His) c.322G>C (p.Asp108His) c.*110G>C (n.*110G>C) c.498G>C c.550G>C (p.Asp184His) c.115G>C (p.Asp39His) c.457G>C (p.Asp153His) c.*332G>C (n.*332G>C) n.539G>C c.100G>C (p.Asp34His) c.-203G>C (n.-203G>C) | gnomAD v4 |
5 | g.140695744G>T | CA361197940 | HARS2 | c.532G>T (p.Asp178Tyr) c.310G>T (p.Asp104Tyr) c.322G>T (p.Asp108Tyr) c.*110G>T (n.*110G>T) c.498G>T c.550G>T (p.Asp184Tyr) c.115G>T (p.Asp39Tyr) c.457G>T (p.Asp153Tyr) c.*332G>T (n.*332G>T) n.539G>T c.100G>T (p.Asp34Tyr) c.-203G>T (n.-203G>T) | gnomAD v4 |
5 | g.140695745A>C | CA361197943 | HARS2 | c.533A>C (p.Asp178Ala) c.311A>C (p.Asp104Ala) c.323A>C (p.Asp108Ala) c.*111A>C (n.*111A>C) c.499A>C c.551A>C (p.Asp184Ala) c.116A>C (p.Asp39Ala) c.458A>C (p.Asp153Ala) c.*333A>C (n.*333A>C) n.540A>C c.101A>C (p.Asp34Ala) c.-202A>C (n.-202A>C) | |
5 | g.140695745A>G | CA361197946 | HARS2 | c.533A>G (p.Asp178Gly) c.311A>G (p.Asp104Gly) c.323A>G (p.Asp108Gly) c.*111A>G (n.*111A>G) c.499A>G c.551A>G (p.Asp184Gly) c.116A>G (p.Asp39Gly) c.458A>G (p.Asp153Gly) c.*333A>G (n.*333A>G) n.540A>G c.101A>G (p.Asp34Gly) c.-202A>G (n.-202A>G) | |
5 | g.140695745A>T | CA361197947 | HARS2 | c.533A>T (p.Asp178Val) c.311A>T (p.Asp104Val) c.323A>T (p.Asp108Val) c.*111A>T (n.*111A>T) c.499A>T c.551A>T (p.Asp184Val) c.116A>T (p.Asp39Val) c.458A>T (p.Asp153Val) c.*333A>T (n.*333A>T) n.540A>T c.101A>T (p.Asp34Val) c.-202A>T (n.-202A>T) | |
5 | g.140695746C>A | CA361197948 | HARS2 | c.534C>A (p.Asp178Glu) c.312C>A (p.Asp104Glu) c.324C>A (p.Asp108Glu) c.*112C>A (n.*112C>A) c.500C>A c.552C>A (p.Asp184Glu) c.117C>A (p.Asp39Glu) c.459C>A (p.Asp153Glu) c.*334C>A (n.*334C>A) n.541C>A c.102C>A (p.Asp34Glu) c.-201C>A (n.-201C>A) | |
5 | g.140695746C= | CA1586866747 | HARS2 | c.534C= (p.Asp178=) c.312C= (p.Asp104=) c.324C= (p.Asp108=) c.*112C= (n.*112C=) c.500C= c.552C= (p.Asp184=) c.117C= (p.Asp39=) c.459C= (p.Asp153=) c.*334C= (n.*334C=) n.541C= c.102C= (p.Asp34=) c.-201C= (n.-201C=) | |
5 | g.140695746C>G | CA361197949 | HARS2 | c.534C>G (p.Asp178Glu) c.312C>G (p.Asp104Glu) c.324C>G (p.Asp108Glu) c.*112C>G (n.*112C>G) c.500C>G c.552C>G (p.Asp184Glu) c.117C>G (p.Asp39Glu) c.459C>G (p.Asp153Glu) c.*334C>G (n.*334C>G) n.541C>G c.102C>G (p.Asp34Glu) c.-201C>G (n.-201C>G) | |
5 | g.140695746C>T | CA446804362 | HARS2 | c.534C>T (p.Asp178=) c.312C>T (p.Asp104=) c.324C>T (p.Asp108=) c.*112C>T (n.*112C>T) c.500C>T c.552C>T (p.Asp184=) c.117C>T (p.Asp39=) c.459C>T (p.Asp153=) c.*334C>T (n.*334C>T) n.541C>T c.102C>T (p.Asp34=) c.-201C>T (n.-201C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
5 | g.140695747A= | CA1586866752 | HARS2 | c.535A= (p.Ile179=) c.313A= (p.Ile105=) c.325A= (p.Ile109=) c.*113A= (n.*113A=) c.501A= c.553A= (p.Ile185=) c.118A= (p.Ile40=) c.460A= (p.Ile154=) c.*335A= (n.*335A=) n.542A= c.103A= (p.Ile35=) c.-200A= (n.-200A=) | |
5 | g.140695747A>C | CA361197954 | HARS2 | c.535A>C (p.Ile179Leu) c.313A>C (p.Ile105Leu) c.325A>C (p.Ile109Leu) c.*113A>C (n.*113A>C) c.501A>C c.553A>C (p.Ile185Leu) c.118A>C (p.Ile40Leu) c.460A>C (p.Ile154Leu) c.*335A>C (n.*335A>C) n.542A>C c.103A>C (p.Ile35Leu) c.-200A>C (n.-200A>C) | |
5 | g.140695747A>G | CA361197950 | HARS2 | c.535A>G (p.Ile179Val) c.313A>G (p.Ile105Val) c.325A>G (p.Ile109Val) c.*113A>G (n.*113A>G) c.501A>G c.553A>G (p.Ile185Val) c.118A>G (p.Ile40Val) c.460A>G (p.Ile154Val) c.*335A>G (n.*335A>G) n.542A>G c.103A>G (p.Ile35Val) c.-200A>G (n.-200A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.140695747A>T | CA361197952 | HARS2 | c.535A>T (p.Ile179Phe) c.313A>T (p.Ile105Phe) c.325A>T (p.Ile109Phe) c.*113A>T (n.*113A>T) c.501A>T c.553A>T (p.Ile185Phe) c.118A>T (p.Ile40Phe) c.460A>T (p.Ile154Phe) c.*335A>T (n.*335A>T) n.542A>T c.103A>T (p.Ile35Phe) c.-200A>T (n.-200A>T) | gnomAD v4 |
5 | g.140695748T>A | CA361197958 | HARS2 | c.536T>A (p.Ile179Asn) c.314T>A (p.Ile105Asn) c.326T>A (p.Ile109Asn) c.*114T>A (n.*114T>A) c.502T>A c.554T>A (p.Ile185Asn) c.119T>A (p.Ile40Asn) c.461T>A (p.Ile154Asn) c.*336T>A (n.*336T>A) n.543T>A c.104T>A (p.Ile35Asn) c.-199T>A (n.-199T>A) | |
5 | g.140695748T>C | CA361197962 | HARS2 | c.536T>C (p.Ile179Thr) c.314T>C (p.Ile105Thr) c.326T>C (p.Ile109Thr) c.*114T>C (n.*114T>C) c.502T>C c.554T>C (p.Ile185Thr) c.119T>C (p.Ile40Thr) c.461T>C (p.Ile154Thr) c.*336T>C (n.*336T>C) n.543T>C c.104T>C (p.Ile35Thr) c.-199T>C (n.-199T>C) | |
5 | g.140695748T>G | CA361197964 | HARS2 | c.536T>G (p.Ile179Ser) c.314T>G (p.Ile105Ser) c.326T>G (p.Ile109Ser) c.*114T>G (n.*114T>G) c.502T>G c.554T>G (p.Ile185Ser) c.119T>G (p.Ile40Ser) c.461T>G (p.Ile154Ser) c.*336T>G (n.*336T>G) n.543T>G c.104T>G (p.Ile35Ser) c.-199T>G (n.-199T>G) | |
5 | g.140695749T>A | CA446804363 | HARS2 | c.537T>A (p.Ile179=) c.315T>A (p.Ile105=) c.327T>A (p.Ile109=) c.*115T>A (n.*115T>A) c.503T>A c.555T>A (p.Ile185=) c.120T>A (p.Ile40=) c.462T>A (p.Ile154=) c.*337T>A (n.*337T>A) n.544T>A c.105T>A (p.Ile35=) c.-198T>A (n.-198T>A) | |
5 | g.140695749T>C | CA446804365 | HARS2 | c.537T>C (p.Ile179=) c.315T>C (p.Ile105=) c.327T>C (p.Ile109=) c.*115T>C (n.*115T>C) c.503T>C c.555T>C (p.Ile185=) c.120T>C (p.Ile40=) c.462T>C (p.Ile154=) c.*337T>C (n.*337T>C) n.544T>C c.105T>C (p.Ile35=) c.-198T>C (n.-198T>C) | |
5 | g.140695749T>G | CA361197969 | HARS2 | c.537T>G (p.Ile179Met) c.315T>G (p.Ile105Met) c.327T>G (p.Ile109Met) c.*115T>G (n.*115T>G) c.503T>G c.555T>G (p.Ile185Met) c.120T>G (p.Ile40Met) c.462T>G (p.Ile154Met) c.*337T>G (n.*337T>G) n.544T>G c.105T>G (p.Ile35Met) c.-198T>G (n.-198T>G) | |
5 | g.140695750G>A | CA361197970 | HARS2 | c.538G>A (p.Ala180Thr) c.316G>A (p.Ala106Thr) c.328G>A (p.Ala110Thr) c.*116G>A (n.*116G>A) c.504G>A c.556G>A (p.Ala186Thr) c.121G>A (p.Ala41Thr) c.463G>A (p.Ala155Thr) c.*338G>A (n.*338G>A) n.545G>A c.106G>A (p.Ala36Thr) c.-197G>A (n.-197G>A) | |
5 | g.140695750G>C | CA361197973 | HARS2 | c.538G>C (p.Ala180Pro) c.316G>C (p.Ala106Pro) c.328G>C (p.Ala110Pro) c.*116G>C (n.*116G>C) c.504G>C c.556G>C (p.Ala186Pro) c.121G>C (p.Ala41Pro) c.463G>C (p.Ala155Pro) c.*338G>C (n.*338G>C) n.545G>C c.106G>C (p.Ala36Pro) c.-197G>C (n.-197G>C) | |
5 | g.140695750G>T | CA361197976 | HARS2 | c.538G>T (p.Ala180Ser) c.316G>T (p.Ala106Ser) c.328G>T (p.Ala110Ser) c.*116G>T (n.*116G>T) c.504G>T c.556G>T (p.Ala186Ser) c.121G>T (p.Ala41Ser) c.463G>T (p.Ala155Ser) c.*338G>T (n.*338G>T) n.545G>T c.106G>T (p.Ala36Ser) c.-197G>T (n.-197G>T) | |
5 | g.140695751C>A | CA361197979 | HARS2 | c.539C>A (p.Ala180Asp) c.317C>A (p.Ala106Asp) c.329C>A (p.Ala110Asp) c.*117C>A (n.*117C>A) c.505C>A c.557C>A (p.Ala186Asp) c.122C>A (p.Ala41Asp) c.464C>A (p.Ala155Asp) c.*339C>A (n.*339C>A) n.546C>A c.107C>A (p.Ala36Asp) c.-196C>A (n.-196C>A) | |
5 | g.140695751C>G | CA361197982 | HARS2 | c.539C>G (p.Ala180Gly) c.317C>G (p.Ala106Gly) c.329C>G (p.Ala110Gly) c.*117C>G (n.*117C>G) c.505C>G c.557C>G (p.Ala186Gly) c.122C>G (p.Ala41Gly) c.464C>G (p.Ala155Gly) c.*339C>G (n.*339C>G) n.546C>G c.107C>G (p.Ala36Gly) c.-196C>G (n.-196C>G) | |
5 | g.140695751C>T | CA361197985 | HARS2 | c.539C>T (p.Ala180Val) c.317C>T (p.Ala106Val) c.329C>T (p.Ala110Val) c.*117C>T (n.*117C>T) c.505C>T c.557C>T (p.Ala186Val) c.122C>T (p.Ala41Val) c.464C>T (p.Ala155Val) c.*339C>T (n.*339C>T) n.546C>T c.107C>T (p.Ala36Val) c.-196C>T (n.-196C>T) | |
5 | g.140695752T>A | CA446804372 | HARS2 | c.540T>A (p.Ala180=) c.318T>A (p.Ala106=) c.330T>A (p.Ala110=) c.*118T>A (n.*118T>A) c.506T>A c.558T>A (p.Ala186=) c.123T>A (p.Ala41=) c.465T>A (p.Ala155=) c.*340T>A (n.*340T>A) n.547T>A c.108T>A (p.Ala36=) c.-195T>A (n.-195T>A) | |
5 | g.140695752T>C | CA446804373 | HARS2 | c.540T>C (p.Ala180=) c.318T>C (p.Ala106=) c.330T>C (p.Ala110=) c.*118T>C (n.*118T>C) c.506T>C c.558T>C (p.Ala186=) c.123T>C (p.Ala41=) c.465T>C (p.Ala155=) c.*340T>C (n.*340T>C) n.547T>C c.108T>C (p.Ala36=) c.-195T>C (n.-195T>C) | dbSNP gnomAD v2 |
5 | g.140695752T>G | CA446804374 | HARS2 | c.540T>G (p.Ala180=) c.318T>G (p.Ala106=) c.330T>G (p.Ala110=) c.*118T>G (n.*118T>G) c.506T>G c.558T>G (p.Ala186=) c.123T>G (p.Ala41=) c.465T>G (p.Ala155=) c.*340T>G (n.*340T>G) n.547T>G c.108T>G (p.Ala36=) c.-195T>G (n.-195T>G) | |
5 | g.140695752T= | CA1586866757 | HARS2 | c.540T= (p.Ala180=) c.318T= (p.Ala106=) c.330T= (p.Ala110=) c.*118T= (n.*118T=) c.506T= c.558T= (p.Ala186=) c.123T= (p.Ala41=) c.465T= (p.Ala155=) c.*340T= (n.*340T=) n.547T= c.108T= (p.Ala36=) c.-195T= (n.-195T=) | |
5 | g.140695753G>A | CA361197988 | HARS2 | c.541G>A (p.Gly181Ser) c.319G>A (p.Gly107Ser) c.331G>A (p.Gly111Ser) c.*119G>A (n.*119G>A) c.507G>A c.559G>A (p.Gly187Ser) c.124G>A (p.Gly42Ser) c.466G>A (p.Gly156Ser) c.*341G>A (n.*341G>A) n.548G>A c.109G>A (p.Gly37Ser) c.-194G>A (n.-194G>A) | |
5 | g.140695753G>C | CA361197991 | HARS2 | c.541G>C (p.Gly181Arg) c.319G>C (p.Gly107Arg) c.331G>C (p.Gly111Arg) c.*119G>C (n.*119G>C) c.507G>C c.559G>C (p.Gly187Arg) c.124G>C (p.Gly42Arg) c.466G>C (p.Gly156Arg) c.*341G>C (n.*341G>C) n.548G>C c.109G>C (p.Gly37Arg) c.-194G>C (n.-194G>C) | |
5 | g.140695753G>T | CA361197994 | HARS2 | c.541G>T (p.Gly181Cys) c.319G>T (p.Gly107Cys) c.331G>T (p.Gly111Cys) c.*119G>T (n.*119G>T) c.507G>T c.559G>T (p.Gly187Cys) c.124G>T (p.Gly42Cys) c.466G>T (p.Gly156Cys) c.*341G>T (n.*341G>T) n.548G>T c.109G>T (p.Gly37Cys) c.-194G>T (n.-194G>T) | |
5 | g.140695754G>A | CA361198001 | HARS2 | c.542G>A (p.Gly181Asp) c.320G>A (p.Gly107Asp) c.332G>A (p.Gly111Asp) c.*120G>A (n.*120G>A) c.508G>A c.560G>A (p.Gly187Asp) c.125G>A (p.Gly42Asp) c.467G>A (p.Gly156Asp) c.*342G>A (n.*342G>A) n.549G>A c.110G>A (p.Gly37Asp) c.-193G>A (n.-193G>A) | dbSNP |
5 | g.140695754G>C | CA361198002 | HARS2 | c.542G>C (p.Gly181Ala) c.320G>C (p.Gly107Ala) c.332G>C (p.Gly111Ala) c.*120G>C (n.*120G>C) c.508G>C c.560G>C (p.Gly187Ala) c.125G>C (p.Gly42Ala) c.467G>C (p.Gly156Ala) c.*342G>C (n.*342G>C) n.549G>C c.110G>C (p.Gly37Ala) c.-193G>C (n.-193G>C) | |
5 | g.140695754G= | CA1586866760 | HARS2 | c.542G= (p.Gly181=) c.320G= (p.Gly107=) c.332G= (p.Gly111=) c.*120G= (n.*120G=) c.508G= c.560G= (p.Gly187=) c.125G= (p.Gly42=) c.467G= (p.Gly156=) c.*342G= (n.*342G=) n.549G= c.110G= (p.Gly37=) c.-193G= (n.-193G=) | |
5 | g.140695754G>T | CA361197998 | HARS2 | c.542G>T (p.Gly181Val) c.320G>T (p.Gly107Val) c.332G>T (p.Gly111Val) c.*120G>T (n.*120G>T) c.508G>T c.560G>T (p.Gly187Val) c.125G>T (p.Gly42Val) c.467G>T (p.Gly156Val) c.*342G>T (n.*342G>T) n.549G>T c.110G>T (p.Gly37Val) c.-193G>T (n.-193G>T) | |
5 | g.140695755T>A | CA446804375 | HARS2 | c.543T>A (p.Gly181=) c.321T>A (p.Gly107=) c.333T>A (p.Gly111=) c.*121T>A (n.*121T>A) c.509T>A c.561T>A (p.Gly187=) c.126T>A (p.Gly42=) c.468T>A (p.Gly156=) c.*343T>A (n.*343T>A) n.550T>A c.111T>A (p.Gly37=) c.-192T>A (n.-192T>A) | |
5 | g.140695755T>C | CA446804376 | HARS2 | c.543T>C (p.Gly181=) c.321T>C (p.Gly107=) c.333T>C (p.Gly111=) c.*121T>C (n.*121T>C) c.509T>C c.561T>C (p.Gly187=) c.126T>C (p.Gly42=) c.468T>C (p.Gly156=) c.*343T>C (n.*343T>C) n.550T>C c.111T>C (p.Gly37=) c.-192T>C (n.-192T>C) | |
5 | g.140695755T>G | CA446804377 | HARS2 | c.543T>G (p.Gly181=) c.321T>G (p.Gly107=) c.333T>G (p.Gly111=) c.*121T>G (n.*121T>G) c.509T>G c.561T>G (p.Gly187=) c.126T>G (p.Gly42=) c.468T>G (p.Gly156=) c.*343T>G (n.*343T>G) n.550T>G c.111T>G (p.Gly37=) c.-192T>G (n.-192T>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.140695755T= | CA1586866763 | HARS2 | c.543T= (p.Gly181=) c.321T= (p.Gly107=) c.333T= (p.Gly111=) c.*121T= (n.*121T=) c.509T= c.561T= (p.Gly187=) c.126T= (p.Gly42=) c.468T= (p.Gly156=) c.*343T= (n.*343T=) n.550T= c.111T= (p.Gly37=) c.-192T= (n.-192T=) | |
5 | g.140695756C>A | CA361198006 | HARS2 | c.544C>A (p.Gln182Lys) c.322C>A (p.Gln108Lys) c.334C>A (p.Gln112Lys) c.*122C>A (n.*122C>A) c.510C>A c.562C>A (p.Gln188Lys) c.127C>A (p.Gln43Lys) c.469C>A (p.Gln157Lys) c.*344C>A (n.*344C>A) n.551C>A c.112C>A (p.Gln38Lys) c.-191C>A (n.-191C>A) | gnomAD v4 |
5 | g.140695756C= | CA1586866768 | HARS2 | c.544C= (p.Gln182=) c.322C= (p.Gln108=) c.334C= (p.Gln112=) c.*122C= (n.*122C=) c.510C= c.562C= (p.Gln188=) c.127C= (p.Gln43=) c.469C= (p.Gln157=) c.*344C= (n.*344C=) n.551C= c.112C= (p.Gln38=) c.-191C= (n.-191C=) | |
5 | g.140695756C>G | CA361198009 | HARS2 | c.544C>G (p.Gln182Glu) c.322C>G (p.Gln108Glu) c.334C>G (p.Gln112Glu) c.*122C>G (n.*122C>G) c.510C>G c.562C>G (p.Gln188Glu) c.127C>G (p.Gln43Glu) c.469C>G (p.Gln157Glu) c.*344C>G (n.*344C>G) n.551C>G c.112C>G (p.Gln38Glu) c.-191C>G (n.-191C>G) | dbSNP |
5 | g.140695756C>T | CA361198011 | HARS2 | c.544C>T (p.Gln182Ter) c.322C>T (p.Gln108Ter) c.334C>T (p.Gln112Ter) c.*122C>T (n.*122C>T) c.510C>T c.562C>T (p.Gln188Ter) c.127C>T (p.Gln43Ter) c.469C>T (p.Gln157Ter) c.*344C>T (n.*344C>T) n.551C>T c.112C>T (p.Gln38Ter) c.-191C>T (n.-191C>T) | |
5 | g.140695757A>C | CA361198013 | HARS2 | c.545A>C (p.Gln182Pro) c.323A>C (p.Gln108Pro) c.335A>C (p.Gln112Pro) c.*123A>C (n.*123A>C) c.511A>C c.563A>C (p.Gln188Pro) c.128A>C (p.Gln43Pro) c.470A>C (p.Gln157Pro) c.*345A>C (n.*345A>C) n.552A>C c.113A>C (p.Gln38Pro) c.-190A>C (n.-190A>C) | |
5 | g.140695757A>G | CA361198015 | HARS2 | c.545A>G (p.Gln182Arg) c.323A>G (p.Gln108Arg) c.335A>G (p.Gln112Arg) c.*123A>G (n.*123A>G) c.511A>G c.563A>G (p.Gln188Arg) c.128A>G (p.Gln43Arg) c.470A>G (p.Gln157Arg) c.*345A>G (n.*345A>G) n.552A>G c.113A>G (p.Gln38Arg) c.-190A>G (n.-190A>G) | gnomAD v4 |
5 | g.140695757A>T | CA361198017 | HARS2 | c.545A>T (p.Gln182Leu) c.323A>T (p.Gln108Leu) c.335A>T (p.Gln112Leu) c.*123A>T (n.*123A>T) c.511A>T c.563A>T (p.Gln188Leu) c.128A>T (p.Gln43Leu) c.470A>T (p.Gln157Leu) c.*345A>T (n.*345A>T) n.552A>T c.113A>T (p.Gln38Leu) c.-190A>T (n.-190A>T) | |
5 | g.140695758G>A | CA128341919 | HARS2 | c.546G>A (p.Gln182=) c.324G>A (p.Gln108=) c.336G>A (p.Gln112=) c.*124G>A (n.*124G>A) c.512G>A c.564G>A (p.Gln188=) c.129G>A (p.Gln43=) c.471G>A (p.Gln157=) c.*346G>A (n.*346G>A) n.553G>A c.114G>A (p.Gln38=) c.-189G>A (n.-189G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140695758G>C | CA3444467 | HARS2 | c.546G>C (p.Gln182His) c.324G>C (p.Gln108His) c.336G>C (p.Gln112His) c.*124G>C (n.*124G>C) c.512G>C c.564G>C (p.Gln188His) c.129G>C (p.Gln43His) c.471G>C (p.Gln157His) c.*346G>C (n.*346G>C) n.553G>C c.114G>C (p.Gln38His) c.-189G>C (n.-189G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140695758G= | CA1586866777 | HARS2 | c.546G= (p.Gln182=) c.324G= (p.Gln108=) c.336G= (p.Gln112=) c.*124G= (n.*124G=) c.512G= c.564G= (p.Gln188=) c.129G= (p.Gln43=) c.471G= (p.Gln157=) c.*346G= (n.*346G=) n.553G= c.114G= (p.Gln38=) c.-189G= (n.-189G=) | |
5 | g.140695758G>T | CA361198021 | HARS2 | c.546G>T (p.Gln182His) c.324G>T (p.Gln108His) c.336G>T (p.Gln112His) c.*124G>T (n.*124G>T) c.512G>T c.564G>T (p.Gln188His) c.129G>T (p.Gln43His) c.471G>T (p.Gln157His) c.*346G>T (n.*346G>T) n.553G>T c.114G>T (p.Gln38His) c.-189G>T (n.-189G>T) | |
5 | g.140695758_140695759delinsGT | CA1586866774 | HARS2 | c.546_547delinsGT (p.Gln182=) c.324_325delinsGT (p.Gln108=) c.336_337delinsGT (p.Gln112=) c.*124_*125delinsGT (n.*124_*125delinsGT) c.512_513delinsGT c.564_565delinsGT (p.Gln188=) c.129_130delinsGT (p.Gln43=) c.471_472delinsGT (p.Gln157=) c.*346_*347delinsGT (n.*346_*347delinsGT) n.553_554delinsGT c.114_115delinsGT (p.Gln38=) c.-189_-188delinsGT (n.-189_-188delinsGT) | |
5 | g.140695759T>A | CA361198026 | HARS2 | c.547T>A (p.Phe183Ile) c.325T>A (p.Phe109Ile) c.337T>A (p.Phe113Ile) c.*125T>A (n.*125T>A) c.513T>A c.565T>A (p.Phe189Ile) c.130T>A (p.Phe44Ile) c.472T>A (p.Phe158Ile) c.*347T>A (n.*347T>A) n.554T>A c.115T>A (p.Phe39Ile) c.-188T>A (n.-188T>A) | |
5 | g.140695759T>C | CA361198027 | HARS2 | c.547T>C (p.Phe183Leu) c.325T>C (p.Phe109Leu) c.337T>C (p.Phe113Leu) c.*125T>C (n.*125T>C) c.513T>C c.565T>C (p.Phe189Leu) c.130T>C (p.Phe44Leu) c.472T>C (p.Phe158Leu) c.*347T>C (n.*347T>C) n.554T>C c.115T>C (p.Phe39Leu) c.-188T>C (n.-188T>C) | |
5 | g.140695759T>G | CA361198029 | HARS2 | c.547T>G (p.Phe183Val) c.325T>G (p.Phe109Val) c.337T>G (p.Phe113Val) c.*125T>G (n.*125T>G) c.513T>G c.565T>G (p.Phe189Val) c.130T>G (p.Phe44Val) c.472T>G (p.Phe158Val) c.*347T>G (n.*347T>G) n.554T>G c.115T>G (p.Phe39Val) c.-188T>G (n.-188T>G) | |
5 | g.140695761del | CA446804379 | HARS2 | c.549del (p.Phe183LeufsTer4) c.327del (p.Phe109LeufsTer4) c.339del (p.Phe113LeufsTer4) c.*127del (n.*127del) c.515del c.567del (p.Phe189LeufsTer4) c.132del (p.Phe44LeufsTer4) c.474del (p.Phe158LeufsTer4) c.*349del (n.*349del) n.556del c.117del (p.Phe39LeufsTer4) c.-186del (n.-186del) | dbSNP |
5 | g.140695760T>A | CA361198033 | HARS2 | c.548T>A (p.Phe183Tyr) c.326T>A (p.Phe109Tyr) c.338T>A (p.Phe113Tyr) c.*126T>A (n.*126T>A) c.514T>A c.566T>A (p.Phe189Tyr) c.131T>A (p.Phe44Tyr) c.473T>A (p.Phe158Tyr) c.*348T>A (n.*348T>A) n.555T>A c.116T>A (p.Phe39Tyr) c.-187T>A (n.-187T>A) | |
5 | g.140695760T>C | CA361198035 | HARS2 | c.548T>C (p.Phe183Ser) c.326T>C (p.Phe109Ser) c.338T>C (p.Phe113Ser) c.*126T>C (n.*126T>C) c.514T>C c.566T>C (p.Phe189Ser) c.131T>C (p.Phe44Ser) c.473T>C (p.Phe158Ser) c.*348T>C (n.*348T>C) n.555T>C c.116T>C (p.Phe39Ser) c.-187T>C (n.-187T>C) | |
5 | g.140695760T>G | CA361198037 | HARS2 | c.548T>G (p.Phe183Cys) c.326T>G (p.Phe109Cys) c.338T>G (p.Phe113Cys) c.*126T>G (n.*126T>G) c.514T>G c.566T>G (p.Phe189Cys) c.131T>G (p.Phe44Cys) c.473T>G (p.Phe158Cys) c.*348T>G (n.*348T>G) n.555T>G c.116T>G (p.Phe39Cys) c.-187T>G (n.-187T>G) | |
5 | g.140695761T>A | CA361198041 | HARS2 | c.549T>A (p.Phe183Leu) c.327T>A (p.Phe109Leu) c.339T>A (p.Phe113Leu) c.*127T>A (n.*127T>A) c.515T>A c.567T>A (p.Phe189Leu) c.132T>A (p.Phe44Leu) c.474T>A (p.Phe158Leu) c.*349T>A (n.*349T>A) n.556T>A c.117T>A (p.Phe39Leu) c.-186T>A (n.-186T>A) | |
5 | g.140695761T>C | CA446804383 | HARS2 | c.549T>C (p.Phe183=) c.327T>C (p.Phe109=) c.339T>C (p.Phe113=) c.*127T>C (n.*127T>C) c.515T>C c.567T>C (p.Phe189=) c.132T>C (p.Phe44=) c.474T>C (p.Phe158=) c.*349T>C (n.*349T>C) n.556T>C c.117T>C (p.Phe39=) c.-186T>C (n.-186T>C) | |
5 | g.140695761T>G | CA361198039 | HARS2 | c.549T>G (p.Phe183Leu) c.327T>G (p.Phe109Leu) c.339T>G (p.Phe113Leu) c.*127T>G (n.*127T>G) c.515T>G c.567T>G (p.Phe189Leu) c.132T>G (p.Phe44Leu) c.474T>G (p.Phe158Leu) c.*349T>G (n.*349T>G) n.556T>G c.117T>G (p.Phe39Leu) c.-186T>G (n.-186T>G) | |
5 | g.140695762G>A | CA361198044 | HARS2 | c.550G>A (p.Asp184Asn) c.328G>A (p.Asp110Asn) c.340G>A (p.Asp114Asn) c.*128G>A (n.*128G>A) c.516G>A c.568G>A (p.Asp190Asn) c.133G>A (p.Asp45Asn) c.475G>A (p.Asp159Asn) c.*350G>A (n.*350G>A) n.557G>A c.118G>A (p.Asp40Asn) c.-185G>A (n.-185G>A) | |
5 | g.140695762G>C | CA361198047 | HARS2 | c.550G>C (p.Asp184His) c.328G>C (p.Asp110His) c.340G>C (p.Asp114His) c.*128G>C (n.*128G>C) c.516G>C c.568G>C (p.Asp190His) c.133G>C (p.Asp45His) c.475G>C (p.Asp159His) c.*350G>C (n.*350G>C) n.557G>C c.118G>C (p.Asp40His) c.-185G>C (n.-185G>C) | dbSNP gnomAD v4 |
5 | g.140695762G= | CA1586866790 | HARS2 | c.550G= (p.Asp184=) c.328G= (p.Asp110=) c.340G= (p.Asp114=) c.*128G= (n.*128G=) c.516G= c.568G= (p.Asp190=) c.133G= (p.Asp45=) c.475G= (p.Asp159=) c.*350G= (n.*350G=) n.557G= c.118G= (p.Asp40=) c.-185G= (n.-185G=) | |
5 | g.140695762G>T | CA128341923 | HARS2 | c.550G>T (p.Asp184Tyr) c.328G>T (p.Asp110Tyr) c.340G>T (p.Asp114Tyr) c.*128G>T (n.*128G>T) c.516G>T c.568G>T (p.Asp190Tyr) c.133G>T (p.Asp45Tyr) c.475G>T (p.Asp159Tyr) c.*350G>T (n.*350G>T) n.557G>T c.118G>T (p.Asp40Tyr) c.-185G>T (n.-185G>T) | dbSNP gnomAD v4 |
5 | g.140695763A>C | CA361198054 | HARS2 | c.551A>C (p.Asp184Ala) c.329A>C (p.Asp110Ala) c.341A>C (p.Asp114Ala) c.*129A>C (n.*129A>C) c.517A>C c.569A>C (p.Asp190Ala) c.134A>C (p.Asp45Ala) c.476A>C (p.Asp159Ala) c.*351A>C (n.*351A>C) n.558A>C c.119A>C (p.Asp40Ala) c.-184A>C (n.-184A>C) | |
5 | g.140695763A>G | CA361198056 | HARS2 | c.551A>G (p.Asp184Gly) c.329A>G (p.Asp110Gly) c.341A>G (p.Asp114Gly) c.*129A>G (n.*129A>G) c.517A>G c.569A>G (p.Asp190Gly) c.134A>G (p.Asp45Gly) c.476A>G (p.Asp159Gly) c.*351A>G (n.*351A>G) n.558A>G c.119A>G (p.Asp40Gly) c.-184A>G (n.-184A>G) | |
5 | g.140695763A>T | CA361198059 | HARS2 | c.551A>T (p.Asp184Val) c.329A>T (p.Asp110Val) c.341A>T (p.Asp114Val) c.*129A>T (n.*129A>T) c.517A>T c.569A>T (p.Asp190Val) c.134A>T (p.Asp45Val) c.476A>T (p.Asp159Val) c.*351A>T (n.*351A>T) n.558A>T c.119A>T (p.Asp40Val) c.-184A>T (n.-184A>T) | |
5 | g.140695764C>A | CA361198063 | HARS2 | c.552C>A (p.Asp184Glu) c.330C>A (p.Asp110Glu) c.342C>A (p.Asp114Glu) c.*130C>A (n.*130C>A) c.518C>A c.570C>A (p.Asp190Glu) c.135C>A (p.Asp45Glu) c.477C>A (p.Asp159Glu) c.*352C>A (n.*352C>A) n.559C>A c.120C>A (p.Asp40Glu) c.-183C>A (n.-183C>A) | |
5 | g.140695764C= | CA1586866798 | HARS2 | c.552C= (p.Asp184=) c.330C= (p.Asp110=) c.342C= (p.Asp114=) c.*130C= (n.*130C=) c.518C= c.570C= (p.Asp190=) c.135C= (p.Asp45=) c.477C= (p.Asp159=) c.*352C= (n.*352C=) n.559C= c.120C= (p.Asp40=) c.-183C= (n.-183C=) | |
5 | g.140695764C>G | CA128341926 | HARS2 | c.552C>G (p.Asp184Glu) c.330C>G (p.Asp110Glu) c.342C>G (p.Asp114Glu) c.*130C>G (n.*130C>G) c.518C>G c.570C>G (p.Asp190Glu) c.135C>G (p.Asp45Glu) c.477C>G (p.Asp159Glu) c.*352C>G (n.*352C>G) n.559C>G c.120C>G (p.Asp40Glu) c.-183C>G (n.-183C>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.140695764C>T | CA446804384 | HARS2 | c.552C>T (p.Asp184=) c.330C>T (p.Asp110=) c.342C>T (p.Asp114=) c.*130C>T (n.*130C>T) c.518C>T c.570C>T (p.Asp190=) c.135C>T (p.Asp45=) c.477C>T (p.Asp159=) c.*352C>T (n.*352C>T) n.559C>T c.120C>T (p.Asp40=) c.-183C>T (n.-183C>T) | dbSNP |
5 | g.140695765C>A | CA361198068 | HARS2 | c.553C>A (p.Pro185Thr) c.331C>A (p.Pro111Thr) c.343C>A (p.Pro115Thr) c.*131C>A (n.*131C>A) c.519C>A c.571C>A (p.Pro191Thr) c.136C>A (p.Pro46Thr) c.478C>A (p.Pro160Thr) c.*353C>A (n.*353C>A) n.560C>A c.121C>A (p.Pro41Thr) c.-182C>A (n.-182C>A) | |
5 | g.140695765C>G | CA361198070 | HARS2 | c.553C>G (p.Pro185Ala) c.331C>G (p.Pro111Ala) c.343C>G (p.Pro115Ala) c.*131C>G (n.*131C>G) c.519C>G c.571C>G (p.Pro191Ala) c.136C>G (p.Pro46Ala) c.478C>G (p.Pro160Ala) c.*353C>G (n.*353C>G) n.560C>G c.121C>G (p.Pro41Ala) c.-182C>G (n.-182C>G) | |
5 | g.140695765C>T | CA361198073 | HARS2 | c.553C>T (p.Pro185Ser) c.331C>T (p.Pro111Ser) c.343C>T (p.Pro115Ser) c.*131C>T (n.*131C>T) c.519C>T c.571C>T (p.Pro191Ser) c.136C>T (p.Pro46Ser) c.478C>T (p.Pro160Ser) c.*353C>T (n.*353C>T) n.560C>T c.121C>T (p.Pro41Ser) c.-182C>T (n.-182C>T) | |
5 | g.140695766C>A | CA361198075 | HARS2 | c.554C>A (p.Pro185His) c.332C>A (p.Pro111His) c.344C>A (p.Pro115His) c.*132C>A (n.*132C>A) c.520C>A c.572C>A (p.Pro191His) c.137C>A (p.Pro46His) c.479C>A (p.Pro160His) c.*354C>A (n.*354C>A) n.561C>A c.122C>A (p.Pro41His) c.-181C>A (n.-181C>A) | |
5 | g.140695766C>G | CA361198077 | HARS2 | c.554C>G (p.Pro185Arg) c.332C>G (p.Pro111Arg) c.344C>G (p.Pro115Arg) c.*132C>G (n.*132C>G) c.520C>G c.572C>G (p.Pro191Arg) c.137C>G (p.Pro46Arg) c.479C>G (p.Pro160Arg) c.*354C>G (n.*354C>G) n.561C>G c.122C>G (p.Pro41Arg) c.-181C>G (n.-181C>G) | |
5 | g.140695766C>T | CA361198079 | HARS2 | c.554C>T (p.Pro185Leu) c.332C>T (p.Pro111Leu) c.344C>T (p.Pro115Leu) c.*132C>T (n.*132C>T) c.520C>T c.572C>T (p.Pro191Leu) c.137C>T (p.Pro46Leu) c.479C>T (p.Pro160Leu) c.*354C>T (n.*354C>T) n.561C>T c.122C>T (p.Pro41Leu) c.-181C>T (n.-181C>T) | gnomAD v4 |
5 | g.140695767T>A | CA446804386 | HARS2 | c.555T>A (p.Pro185=) c.333T>A (p.Pro111=) c.345T>A (p.Pro115=) c.*133T>A (n.*133T>A) c.521T>A c.573T>A (p.Pro191=) c.138T>A (p.Pro46=) c.480T>A (p.Pro160=) c.*355T>A (n.*355T>A) n.562T>A c.123T>A (p.Pro41=) c.-180T>A (n.-180T>A) | |
5 | g.140695767T>C | CA446804387 | HARS2 | c.555T>C (p.Pro185=) c.333T>C (p.Pro111=) c.345T>C (p.Pro115=) c.*133T>C (n.*133T>C) c.521T>C c.573T>C (p.Pro191=) c.138T>C (p.Pro46=) c.480T>C (p.Pro160=) c.*355T>C (n.*355T>C) n.562T>C c.123T>C (p.Pro41=) c.-180T>C (n.-180T>C) | |
5 | g.140695767T>G | CA446804388 | HARS2 | c.555T>G (p.Pro185=) c.333T>G (p.Pro111=) c.345T>G (p.Pro115=) c.*133T>G (n.*133T>G) c.521T>G c.573T>G (p.Pro191=) c.138T>G (p.Pro46=) c.480T>G (p.Pro160=) c.*355T>G (n.*355T>G) n.562T>G c.123T>G (p.Pro41=) c.-180T>G (n.-180T>G) | |
5 | g.140695768A= | CA1586866804 | HARS2 | c.556A= (p.Met186=) c.334A= (p.Met112=) c.346A= (p.Met116=) c.*134A= (n.*134A=) c.522A= c.574A= (p.Met192=) c.139A= (p.Met47=) c.481A= (p.Met161=) c.*356A= (n.*356A=) n.563A= c.124A= (p.Met42=) c.-179A= (n.-179A=) | |
5 | g.140695768A>C | CA361198080 | HARS2 | c.556A>C (p.Met186Leu) c.334A>C (p.Met112Leu) c.346A>C (p.Met116Leu) c.*134A>C (n.*134A>C) c.522A>C c.574A>C (p.Met192Leu) c.139A>C (p.Met47Leu) c.481A>C (p.Met161Leu) c.*356A>C (n.*356A>C) n.563A>C c.124A>C (p.Met42Leu) c.-179A>C (n.-179A>C) | |
5 | g.140695768A>G | CA361198082 | HARS2 | c.556A>G (p.Met186Val) c.334A>G (p.Met112Val) c.346A>G (p.Met116Val) c.*134A>G (n.*134A>G) c.522A>G c.574A>G (p.Met192Val) c.139A>G (p.Met47Val) c.481A>G (p.Met161Val) c.*356A>G (n.*356A>G) n.563A>G c.124A>G (p.Met42Val) c.-179A>G (n.-179A>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.140695768A>T | CA361198081 | HARS2 | c.556A>T (p.Met186Leu) c.334A>T (p.Met112Leu) c.346A>T (p.Met116Leu) c.*134A>T (n.*134A>T) c.522A>T c.574A>T (p.Met192Leu) c.139A>T (p.Met47Leu) c.481A>T (p.Met161Leu) c.*356A>T (n.*356A>T) n.563A>T c.124A>T (p.Met42Leu) c.-179A>T (n.-179A>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.140695769T>A | CA361198084 | HARS2 | c.557T>A (p.Met186Lys) c.335T>A (p.Met112Lys) c.347T>A (p.Met116Lys) c.*135T>A (n.*135T>A) c.523T>A c.575T>A (p.Met192Lys) c.140T>A (p.Met47Lys) c.482T>A (p.Met161Lys) c.*357T>A (n.*357T>A) n.564T>A c.125T>A (p.Met42Lys) c.-178T>A (n.-178T>A) | |
5 | g.140695769T>C | CA361198086 | HARS2 | c.557T>C (p.Met186Thr) c.335T>C (p.Met112Thr) c.347T>C (p.Met116Thr) c.*135T>C (n.*135T>C) c.523T>C c.575T>C (p.Met192Thr) c.140T>C (p.Met47Thr) c.482T>C (p.Met161Thr) c.*357T>C (n.*357T>C) n.564T>C c.125T>C (p.Met42Thr) c.-178T>C (n.-178T>C) | |
5 | g.140695769T>G | CA361198088 | HARS2 | c.557T>G (p.Met186Arg) c.335T>G (p.Met112Arg) c.347T>G (p.Met116Arg) c.*135T>G (n.*135T>G) c.523T>G c.575T>G (p.Met192Arg) c.140T>G (p.Met47Arg) c.482T>G (p.Met161Arg) c.*357T>G (n.*357T>G) n.564T>G c.125T>G (p.Met42Arg) c.-178T>G (n.-178T>G) | |
5 | g.140695770G>A | CA361198090 | HARS2 | c.558G>A (p.Met186Ile) c.336G>A (p.Met112Ile) c.348G>A (p.Met116Ile) c.*136G>A (n.*136G>A) c.524G>A c.576G>A (p.Met192Ile) c.141G>A (p.Met47Ile) c.483G>A (p.Met161Ile) c.*358G>A (n.*358G>A) n.565G>A c.126G>A (p.Met42Ile) c.-177G>A (n.-177G>A) | |
5 | g.140695770G>C | CA361198092 | HARS2 | c.558G>C (p.Met186Ile) c.336G>C (p.Met112Ile) c.348G>C (p.Met116Ile) c.*136G>C (n.*136G>C) c.524G>C c.576G>C (p.Met192Ile) c.141G>C (p.Met47Ile) c.483G>C (p.Met161Ile) c.*358G>C (n.*358G>C) n.565G>C c.126G>C (p.Met42Ile) c.-177G>C (n.-177G>C) | |
5 | g.140695770G>T | CA361198093 | HARS2 | c.558G>T (p.Met186Ile) c.336G>T (p.Met112Ile) c.348G>T (p.Met116Ile) c.*136G>T (n.*136G>T) c.524G>T c.576G>T (p.Met192Ile) c.141G>T (p.Met47Ile) c.483G>T (p.Met161Ile) c.*358G>T (n.*358G>T) n.565G>T c.126G>T (p.Met42Ile) c.-177G>T (n.-177G>T) | |
5 | g.140695771A>C | CA361198095 | HARS2 | c.559A>C (p.Ile187Leu) c.337A>C (p.Ile113Leu) c.349A>C (p.Ile117Leu) c.*137A>C (n.*137A>C) c.525A>C c.577A>C (p.Ile193Leu) c.142A>C (p.Ile48Leu) c.484A>C (p.Ile162Leu) c.*359A>C (n.*359A>C) n.566A>C c.127A>C (p.Ile43Leu) c.-176A>C (n.-176A>C) | |
5 | g.140695771A>G | CA361198096 | HARS2 | c.559A>G (p.Ile187Val) c.337A>G (p.Ile113Val) c.349A>G (p.Ile117Val) c.*137A>G (n.*137A>G) c.525A>G c.577A>G (p.Ile193Val) c.142A>G (p.Ile48Val) c.484A>G (p.Ile162Val) c.*359A>G (n.*359A>G) n.566A>G c.127A>G (p.Ile43Val) c.-176A>G (n.-176A>G) | |
5 | g.140695771A>T | CA361198098 | HARS2 | c.559A>T (p.Ile187Phe) c.337A>T (p.Ile113Phe) c.349A>T (p.Ile117Phe) c.*137A>T (n.*137A>T) c.525A>T c.577A>T (p.Ile193Phe) c.142A>T (p.Ile48Phe) c.484A>T (p.Ile162Phe) c.*359A>T (n.*359A>T) n.566A>T c.127A>T (p.Ile43Phe) c.-176A>T (n.-176A>T) | |
5 | g.140695772T>A | CA361198100 | HARS2 | c.560T>A (p.Ile187Asn) c.338T>A (p.Ile113Asn) c.350T>A (p.Ile117Asn) c.*138T>A (n.*138T>A) c.526T>A c.578T>A (p.Ile193Asn) c.143T>A (p.Ile48Asn) c.485T>A (p.Ile162Asn) c.*360T>A (n.*360T>A) n.567T>A c.128T>A (p.Ile43Asn) c.-175T>A (n.-175T>A) | |
5 | g.140695772T>C | CA361198102 | HARS2 | c.560T>C (p.Ile187Thr) c.338T>C (p.Ile113Thr) c.350T>C (p.Ile117Thr) c.*138T>C (n.*138T>C) c.526T>C c.578T>C (p.Ile193Thr) c.143T>C (p.Ile48Thr) c.485T>C (p.Ile162Thr) c.*360T>C (n.*360T>C) n.567T>C c.128T>C (p.Ile43Thr) c.-175T>C (n.-175T>C) | |
5 | g.140695772T>G | CA361198103 | HARS2 | c.560T>G (p.Ile187Ser) c.338T>G (p.Ile113Ser) c.350T>G (p.Ile117Ser) c.*138T>G (n.*138T>G) c.526T>G c.578T>G (p.Ile193Ser) c.143T>G (p.Ile48Ser) c.485T>G (p.Ile162Ser) c.*360T>G (n.*360T>G) n.567T>G c.128T>G (p.Ile43Ser) c.-175T>G (n.-175T>G) | |
5 | g.140695773C>A | CA446804390 | HARS2 | c.561C>A (p.Ile187=) c.339C>A (p.Ile113=) c.351C>A (p.Ile117=) c.*139C>A (n.*139C>A) c.527C>A c.579C>A (p.Ile193=) c.144C>A (p.Ile48=) c.486C>A (p.Ile162=) c.*361C>A (n.*361C>A) n.568C>A c.129C>A (p.Ile43=) c.-174C>A (n.-174C>A) | |
5 | g.140695773C>G | CA361198105 | HARS2 | c.561C>G (p.Ile187Met) c.339C>G (p.Ile113Met) c.351C>G (p.Ile117Met) c.*139C>G (n.*139C>G) c.527C>G c.579C>G (p.Ile193Met) c.144C>G (p.Ile48Met) c.486C>G (p.Ile162Met) c.*361C>G (n.*361C>G) n.568C>G c.129C>G (p.Ile43Met) c.-174C>G (n.-174C>G) | |
5 | g.140695773C>T | CA446804391 | HARS2 | c.561C>T (p.Ile187=) c.339C>T (p.Ile113=) c.351C>T (p.Ile117=) c.*139C>T (n.*139C>T) c.527C>T c.579C>T (p.Ile193=) c.144C>T (p.Ile48=) c.486C>T (p.Ile162=) c.*361C>T (n.*361C>T) n.568C>T c.129C>T (p.Ile43=) c.-174C>T (n.-174C>T) | |
5 | g.140695774C>A | CA361198111 | HARS2 | c.562C>A (p.Pro188Thr) c.340C>A (p.Pro114Thr) c.352C>A (p.Pro118Thr) c.*140C>A (n.*140C>A) c.528C>A c.580C>A (p.Pro194Thr) c.145C>A (p.Pro49Thr) c.487C>A (p.Pro163Thr) c.*362C>A (n.*362C>A) n.569C>A c.130C>A (p.Pro44Thr) c.-173C>A (n.-173C>A) | |
5 | g.140695774C>G | CA361198107 | HARS2 | c.562C>G (p.Pro188Ala) c.340C>G (p.Pro114Ala) c.352C>G (p.Pro118Ala) c.*140C>G (n.*140C>G) c.528C>G c.580C>G (p.Pro194Ala) c.145C>G (p.Pro49Ala) c.487C>G (p.Pro163Ala) c.*362C>G (n.*362C>G) n.569C>G c.130C>G (p.Pro44Ala) c.-173C>G (n.-173C>G) | |
5 | g.140695774C>T | CA361198109 | HARS2 | c.562C>T (p.Pro188Ser) c.340C>T (p.Pro114Ser) c.352C>T (p.Pro118Ser) c.*140C>T (n.*140C>T) c.528C>T c.580C>T (p.Pro194Ser) c.145C>T (p.Pro49Ser) c.487C>T (p.Pro163Ser) c.*362C>T (n.*362C>T) n.569C>T c.130C>T (p.Pro44Ser) c.-173C>T (n.-173C>T) | |
5 | g.140695775C>A | CA361198112 | HARS2 | c.563C>A (p.Pro188His) c.341C>A (p.Pro114His) c.353C>A (p.Pro118His) c.*141C>A (n.*141C>A) c.529C>A c.581C>A (p.Pro194His) c.146C>A (p.Pro49His) c.488C>A (p.Pro163His) c.*363C>A (n.*363C>A) n.570C>A c.131C>A (p.Pro44His) c.-172C>A (n.-172C>A) | |
5 | g.140695775C>G | CA361198114 | HARS2 | c.563C>G (p.Pro188Arg) c.341C>G (p.Pro114Arg) c.353C>G (p.Pro118Arg) c.*141C>G (n.*141C>G) c.529C>G c.581C>G (p.Pro194Arg) c.146C>G (p.Pro49Arg) c.488C>G (p.Pro163Arg) c.*363C>G (n.*363C>G) n.570C>G c.131C>G (p.Pro44Arg) c.-172C>G (n.-172C>G) | gnomAD v4 |
5 | g.140695775C>T | CA361198115 | HARS2 | c.563C>T (p.Pro188Leu) c.341C>T (p.Pro114Leu) c.353C>T (p.Pro118Leu) c.*141C>T (n.*141C>T) c.529C>T c.581C>T (p.Pro194Leu) c.146C>T (p.Pro49Leu) c.488C>T (p.Pro163Leu) c.*363C>T (n.*363C>T) n.570C>T c.131C>T (p.Pro44Leu) c.-172C>T (n.-172C>T) | |
5 | g.140695776C>A | CA446804392 | HARS2 | c.564C>A (p.Pro188=) c.342C>A (p.Pro114=) c.354C>A (p.Pro118=) c.*142C>A (n.*142C>A) c.530C>A c.582C>A (p.Pro194=) c.147C>A (p.Pro49=) c.489C>A (p.Pro163=) c.*364C>A (n.*364C>A) n.571C>A c.132C>A (p.Pro44=) c.-171C>A (n.-171C>A) | |
5 | g.140695776C= | CA1586866815 | HARS2 | c.564C= (p.Pro188=) c.342C= (p.Pro114=) c.354C= (p.Pro118=) c.*142C= (n.*142C=) c.530C= c.582C= (p.Pro194=) c.147C= (p.Pro49=) c.489C= (p.Pro163=) c.*364C= (n.*364C=) n.571C= c.132C= (p.Pro44=) c.-171C= (n.-171C=) | |
5 | g.140695776C>G | CA446804393 | HARS2 | c.564C>G (p.Pro188=) c.342C>G (p.Pro114=) c.354C>G (p.Pro118=) c.*142C>G (n.*142C>G) c.530C>G c.582C>G (p.Pro194=) c.147C>G (p.Pro49=) c.489C>G (p.Pro163=) c.*364C>G (n.*364C>G) n.571C>G c.132C>G (p.Pro44=) c.-171C>G (n.-171C>G) | |
5 | g.140695776C>T | CA3444468 | HARS2 | c.564C>T (p.Pro188=) c.342C>T (p.Pro114=) c.354C>T (p.Pro118=) c.*142C>T (n.*142C>T) c.530C>T c.582C>T (p.Pro194=) c.147C>T (p.Pro49=) c.489C>T (p.Pro163=) c.*364C>T (n.*364C>T) n.571C>T c.132C>T (p.Pro44=) c.-171C>T (n.-171C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.140695777G>A | CA128341930 | HARS2 | c.565G>A (p.Asp189Asn) c.343G>A (p.Asp115Asn) c.355G>A (p.Asp119Asn) c.*143G>A (n.*143G>A) c.531G>A c.583G>A (p.Asp195Asn) c.148G>A (p.Asp50Asn) c.490G>A (p.Asp164Asn) c.*365G>A (n.*365G>A) n.572G>A c.133G>A (p.Asp45Asn) c.-170G>A (n.-170G>A) | dbSNP gnomAD v4 |
5 | g.140695777G>C | CA361198118 | HARS2 | c.565G>C (p.Asp189His) c.343G>C (p.Asp115His) c.355G>C (p.Asp119His) c.*143G>C (n.*143G>C) c.531G>C c.583G>C (p.Asp195His) c.148G>C (p.Asp50His) c.490G>C (p.Asp164His) c.*365G>C (n.*365G>C) n.572G>C c.133G>C (p.Asp45His) c.-170G>C (n.-170G>C) | |
5 | g.140695777G= | CA1586866828 | HARS2 | c.565G= (p.Asp189=) c.343G= (p.Asp115=) c.355G= (p.Asp119=) c.*143G= (n.*143G=) c.531G= c.583G= (p.Asp195=) c.148G= (p.Asp50=) c.490G= (p.Asp164=) c.*365G= (n.*365G=) n.572G= c.133G= (p.Asp45=) c.-170G= (n.-170G=) | |
5 | g.140695777G>T | CA361198119 | HARS2 | c.565G>T (p.Asp189Tyr) c.343G>T (p.Asp115Tyr) c.355G>T (p.Asp119Tyr) c.*143G>T (n.*143G>T) c.531G>T c.583G>T (p.Asp195Tyr) c.148G>T (p.Asp50Tyr) c.490G>T (p.Asp164Tyr) c.*365G>T (n.*365G>T) n.572G>T c.133G>T (p.Asp45Tyr) c.-170G>T (n.-170G>T) | |
5 | g.140695778A>C | CA361198122 | HARS2 | c.566A>C (p.Asp189Ala) c.344A>C (p.Asp115Ala) c.356A>C (p.Asp119Ala) c.*144A>C (n.*144A>C) c.532A>C c.584A>C (p.Asp195Ala) c.149A>C (p.Asp50Ala) c.491A>C (p.Asp164Ala) c.*366A>C (n.*366A>C) n.573A>C c.134A>C (p.Asp45Ala) c.-169A>C (n.-169A>C) | |
5 | g.140695778A>G | CA361198124 | HARS2 | c.566A>G (p.Asp189Gly) c.344A>G (p.Asp115Gly) c.356A>G (p.Asp119Gly) c.*144A>G (n.*144A>G) c.532A>G c.584A>G (p.Asp195Gly) c.149A>G (p.Asp50Gly) c.491A>G (p.Asp164Gly) c.*366A>G (n.*366A>G) n.573A>G c.134A>G (p.Asp45Gly) c.-169A>G (n.-169A>G) | gnomAD v4 |
5 | g.140695778A>T | CA361198125 | HARS2 | c.566A>T (p.Asp189Val) c.344A>T (p.Asp115Val) c.356A>T (p.Asp119Val) c.*144A>T (n.*144A>T) c.532A>T c.584A>T (p.Asp195Val) c.149A>T (p.Asp50Val) c.491A>T (p.Asp164Val) c.*366A>T (n.*366A>T) n.573A>T c.134A>T (p.Asp45Val) c.-169A>T (n.-169A>T) | |
5 | g.140695779T>A | CA361198126 | HARS2 | c.567T>A (p.Asp189Glu) c.345T>A (p.Asp115Glu) c.357T>A (p.Asp119Glu) c.*145T>A (n.*145T>A) c.533T>A c.585T>A (p.Asp195Glu) c.150T>A (p.Asp50Glu) c.492T>A (p.Asp164Glu) c.*367T>A (n.*367T>A) n.574T>A c.135T>A (p.Asp45Glu) c.-168T>A (n.-168T>A) | |
5 | g.140695779T>C | CA446804395 | HARS2 | c.567T>C (p.Asp189=) c.345T>C (p.Asp115=) c.357T>C (p.Asp119=) c.*145T>C (n.*145T>C) c.533T>C c.585T>C (p.Asp195=) c.150T>C (p.Asp50=) c.492T>C (p.Asp164=) c.*367T>C (n.*367T>C) n.574T>C c.135T>C (p.Asp45=) c.-168T>C (n.-168T>C) | gnomAD v4 |
5 | g.140695779T>G | CA361198127 | HARS2 | c.567T>G (p.Asp189Glu) c.345T>G (p.Asp115Glu) c.357T>G (p.Asp119Glu) c.*145T>G (n.*145T>G) c.533T>G c.585T>G (p.Asp195Glu) c.150T>G (p.Asp50Glu) c.492T>G (p.Asp164Glu) c.*367T>G (n.*367T>G) n.574T>G c.135T>G (p.Asp45Glu) c.-168T>G (n.-168T>G) | |
5 | g.140695780G>A | CA361198133 | HARS2 | c.568G>A (p.Ala190Thr) c.346G>A (p.Ala116Thr) c.358G>A (p.Ala120Thr) c.*146G>A (n.*146G>A) c.534G>A c.586G>A (p.Ala196Thr) c.151G>A (p.Ala51Thr) c.493G>A (p.Ala165Thr) c.*368G>A (n.*368G>A) n.575G>A c.136G>A (p.Ala46Thr) c.-167G>A (n.-167G>A) | gnomAD v4 |
5 | g.140695780G>C | CA361198129 | HARS2 | c.568G>C (p.Ala190Pro) c.346G>C (p.Ala116Pro) c.358G>C (p.Ala120Pro) c.*146G>C (n.*146G>C) c.534G>C c.586G>C (p.Ala196Pro) c.151G>C (p.Ala51Pro) c.493G>C (p.Ala165Pro) c.*368G>C (n.*368G>C) n.575G>C c.136G>C (p.Ala46Pro) c.-167G>C (n.-167G>C) | |
5 | g.140695780G>T | CA361198130 | HARS2 | c.568G>T (p.Ala190Ser) c.346G>T (p.Ala116Ser) c.358G>T (p.Ala120Ser) c.*146G>T (n.*146G>T) c.534G>T c.586G>T (p.Ala196Ser) c.151G>T (p.Ala51Ser) c.493G>T (p.Ala165Ser) c.*368G>T (n.*368G>T) n.575G>T c.136G>T (p.Ala46Ser) c.-167G>T (n.-167G>T) | |
5 | g.140695781C>A | CA361198134 | HARS2 | c.569C>A (p.Ala190Glu) c.347C>A (p.Ala116Glu) c.359C>A (p.Ala120Glu) c.*147C>A (n.*147C>A) c.535C>A c.587C>A (p.Ala196Glu) c.152C>A (p.Ala51Glu) c.494C>A (p.Ala165Glu) c.*369C>A (n.*369C>A) n.576C>A c.137C>A (p.Ala46Glu) c.-166C>A (n.-166C>A) | |
5 | g.140695781C>G | CA361198138 | HARS2 | c.569C>G (p.Ala190Gly) c.347C>G (p.Ala116Gly) c.359C>G (p.Ala120Gly) c.*147C>G (n.*147C>G) c.535C>G c.587C>G (p.Ala196Gly) c.152C>G (p.Ala51Gly) c.494C>G (p.Ala165Gly) c.*369C>G (n.*369C>G) n.576C>G c.137C>G (p.Ala46Gly) c.-166C>G (n.-166C>G) | |
5 | g.140695781C>T | CA361198135 | HARS2 | c.569C>T (p.Ala190Val) c.347C>T (p.Ala116Val) c.359C>T (p.Ala120Val) c.*147C>T (n.*147C>T) c.535C>T c.587C>T (p.Ala196Val) c.152C>T (p.Ala51Val) c.494C>T (p.Ala165Val) c.*369C>T (n.*369C>T) n.576C>T c.137C>T (p.Ala46Val) c.-166C>T (n.-166C>T) | |
5 | g.140695781_140695783delinsCAG | CA1586866836 | HARS2 | c.569_571delinsCAG (p.Ala190=) c.347_349delinsCAG (p.Ala116=) c.359_361delinsCAG (p.Ala120=) c.*147_*149delinsCAG (n.*147_*149delinsCAG) c.535_537delinsCAG c.587_589delinsCAG (p.Ala196=) c.152_154delinsCAG (p.Ala51=) c.494_496delinsCAG (p.Ala165=) c.*369_*371delinsCAG (n.*369_*371delinsCAG) n.576_578delinsCAG c.137_139delinsCAG (p.Ala46=) c.-166_-164delinsCAG (n.-166_-164delinsCAG) | |
5 | g.140695782A>C | CA446804396 | HARS2 | c.570A>C (p.Ala190=) c.348A>C (p.Ala116=) c.360A>C (p.Ala120=) c.*148A>C (n.*148A>C) c.536A>C c.588A>C (p.Ala196=) c.153A>C (p.Ala51=) c.495A>C (p.Ala165=) c.*370A>C (n.*370A>C) n.577A>C c.138A>C (p.Ala46=) c.-165A>C (n.-165A>C) | |
5 | g.140695782A>G | CA446804397 | HARS2 | c.570A>G (p.Ala190=) c.348A>G (p.Ala116=) c.360A>G (p.Ala120=) c.*148A>G (n.*148A>G) c.536A>G c.588A>G (p.Ala196=) c.153A>G (p.Ala51=) c.495A>G (p.Ala165=) c.*370A>G (n.*370A>G) n.577A>G c.138A>G (p.Ala46=) c.-165A>G (n.-165A>G) | |
5 | g.140695782A>T | CA446804398 | HARS2 | c.570A>T (p.Ala190=) c.348A>T (p.Ala116=) c.360A>T (p.Ala120=) c.*148A>T (n.*148A>T) c.536A>T c.588A>T (p.Ala196=) c.153A>T (p.Ala51=) c.495A>T (p.Ala165=) c.*370A>T (n.*370A>T) n.577A>T c.138A>T (p.Ala46=) c.-165A>T (n.-165A>T) | |
5 | g.140695784_140695785del | CA1586866839 | HARS2 | c.572_573del (p.Glu191ValfsTer7) c.350_351del (p.Glu117ValfsTer7) c.362_363del (p.Glu121ValfsTer7) c.*150_*151del (n.*150_*151del) c.538_539del c.590_591del (p.Glu197ValfsTer7) c.155_156del (p.Glu52ValfsTer7) c.497_498del (p.Glu166ValfsTer7) c.*372_*373del (n.*372_*373del) n.579_580del c.140_141del (p.Glu47ValfsTer7) c.-163_-162del (n.-163_-162del) | dbSNP gnomAD v4 |
5 | g.140695783G>A | CA3444469 | HARS2 | c.571G>A (p.Glu191Lys) c.349G>A (p.Glu117Lys) c.361G>A (p.Glu121Lys) c.*149G>A (n.*149G>A) c.537G>A c.589G>A (p.Glu197Lys) c.154G>A (p.Glu52Lys) c.496G>A (p.Glu166Lys) c.*371G>A (n.*371G>A) n.578G>A c.139G>A (p.Glu47Lys) c.-164G>A (n.-164G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.140695783G>C | CA361198140 | HARS2 | c.571G>C (p.Glu191Gln) c.349G>C (p.Glu117Gln) c.361G>C (p.Glu121Gln) c.*149G>C (n.*149G>C) c.537G>C c.589G>C (p.Glu197Gln) c.154G>C (p.Glu52Gln) c.496G>C (p.Glu166Gln) c.*371G>C (n.*371G>C) n.578G>C c.139G>C (p.Glu47Gln) c.-164G>C (n.-164G>C) | |
5 | g.140695783G= | CA1586866842 | HARS2 | c.571G= (p.Glu191=) c.349G= (p.Glu117=) c.361G= (p.Glu121=) c.*149G= (n.*149G=) c.537G= c.589G= (p.Glu197=) c.154G= (p.Glu52=) c.496G= (p.Glu166=) c.*371G= (n.*371G=) n.578G= c.139G= (p.Glu47=) c.-164G= (n.-164G=) | |
5 | g.140695783G>T | CA361198142 | HARS2 | c.571G>T (p.Glu191Ter) c.349G>T (p.Glu117Ter) c.361G>T (p.Glu121Ter) c.*149G>T (n.*149G>T) c.537G>T c.589G>T (p.Glu197Ter) c.154G>T (p.Glu52Ter) c.496G>T (p.Glu166Ter) c.*371G>T (n.*371G>T) n.578G>T c.139G>T (p.Glu47Ter) c.-164G>T (n.-164G>T) | |
5 | g.140695784A>C | CA361198145 | HARS2 | c.572A>C (p.Glu191Ala) c.350A>C (p.Glu117Ala) c.362A>C (p.Glu121Ala) c.*150A>C (n.*150A>C) c.538A>C c.590A>C (p.Glu197Ala) c.155A>C (p.Glu52Ala) c.497A>C (p.Glu166Ala) c.*372A>C (n.*372A>C) n.579A>C c.140A>C (p.Glu47Ala) c.-163A>C (n.-163A>C) | |
5 | g.140695784A>G | CA361198147 | HARS2 | c.572A>G (p.Glu191Gly) c.350A>G (p.Glu117Gly) c.362A>G (p.Glu121Gly) c.*150A>G (n.*150A>G) c.538A>G c.590A>G (p.Glu197Gly) c.155A>G (p.Glu52Gly) c.497A>G (p.Glu166Gly) c.*372A>G (n.*372A>G) n.579A>G c.140A>G (p.Glu47Gly) c.-163A>G (n.-163A>G) | |
5 | g.140695784A>T | CA361198149 | HARS2 | c.572A>T (p.Glu191Val) c.350A>T (p.Glu117Val) c.362A>T (p.Glu121Val) c.*150A>T (n.*150A>T) c.538A>T c.590A>T (p.Glu197Val) c.155A>T (p.Glu52Val) c.497A>T (p.Glu166Val) c.*372A>T (n.*372A>T) n.579A>T c.140A>T (p.Glu47Val) c.-163A>T (n.-163A>T) | |
5 | g.140695785G>A | CA446804402 | HARS2 | c.573G>A (p.Glu191=) c.351G>A (p.Glu117=) c.363G>A (p.Glu121=) c.*151G>A (n.*151G>A) c.539G>A c.591G>A (p.Glu197=) c.156G>A (p.Glu52=) c.498G>A (p.Glu166=) c.*373G>A (n.*373G>A) n.580G>A c.141G>A (p.Glu47=) c.-162G>A (n.-162G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140695785G>C | CA361198151 | HARS2 | c.573G>C (p.Glu191Asp) c.351G>C (p.Glu117Asp) c.363G>C (p.Glu121Asp) c.*151G>C (n.*151G>C) c.539G>C c.591G>C (p.Glu197Asp) c.156G>C (p.Glu52Asp) c.498G>C (p.Glu166Asp) c.*373G>C (n.*373G>C) n.580G>C c.141G>C (p.Glu47Asp) c.-162G>C (n.-162G>C) | |
5 | g.140695785G= | CA1586866850 | HARS2 | c.573G= (p.Glu191=) c.351G= (p.Glu117=) c.363G= (p.Glu121=) c.*151G= (n.*151G=) c.539G= c.591G= (p.Glu197=) c.156G= (p.Glu52=) c.498G= (p.Glu166=) c.*373G= (n.*373G=) n.580G= c.141G= (p.Glu47=) c.-162G= (n.-162G=) | |
5 | g.140695785G>T | CA361198153 | HARS2 | c.573G>T (p.Glu191Asp) c.351G>T (p.Glu117Asp) c.363G>T (p.Glu121Asp) c.*151G>T (n.*151G>T) c.539G>T c.591G>T (p.Glu197Asp) c.156G>T (p.Glu52Asp) c.498G>T (p.Glu166Asp) c.*373G>T (n.*373G>T) n.580G>T c.141G>T (p.Glu47Asp) c.-162G>T (n.-162G>T) | |
5 | g.140695786T>A | CA361198155 | HARS2 | c.574T>A (p.Cys192Ser) c.352T>A (p.Cys118Ser) c.364T>A (p.Cys122Ser) c.*152T>A (n.*152T>A) c.540T>A c.592T>A (p.Cys198Ser) c.157T>A (p.Cys53Ser) c.499T>A (p.Cys167Ser) c.*374T>A (n.*374T>A) n.581T>A c.142T>A (p.Cys48Ser) c.-161T>A (n.-161T>A) | |
5 | g.140695786T>C | CA361198157 | HARS2 | c.574T>C (p.Cys192Arg) c.352T>C (p.Cys118Arg) c.364T>C (p.Cys122Arg) c.*152T>C (n.*152T>C) c.540T>C c.592T>C (p.Cys198Arg) c.157T>C (p.Cys53Arg) c.499T>C (p.Cys167Arg) c.*374T>C (n.*374T>C) n.581T>C c.142T>C (p.Cys48Arg) c.-161T>C (n.-161T>C) | gnomAD v4 |
5 | g.140695786T>G | CA361198158 | HARS2 | c.574T>G (p.Cys192Gly) c.352T>G (p.Cys118Gly) c.364T>G (p.Cys122Gly) c.*152T>G (n.*152T>G) c.540T>G c.592T>G (p.Cys198Gly) c.157T>G (p.Cys53Gly) c.499T>G (p.Cys167Gly) c.*374T>G (n.*374T>G) n.581T>G c.142T>G (p.Cys48Gly) c.-161T>G (n.-161T>G) | |
5 | g.140695787G>A | CA361198164 | HARS2 | c.575G>A (p.Cys192Tyr) c.353G>A (p.Cys118Tyr) c.365G>A (p.Cys122Tyr) c.*153G>A (n.*153G>A) c.541G>A c.593G>A (p.Cys198Tyr) c.158G>A (p.Cys53Tyr) c.500G>A (p.Cys167Tyr) c.*375G>A (n.*375G>A) n.582G>A c.143G>A (p.Cys48Tyr) c.-160G>A (n.-160G>A) | |
5 | g.140695787G>C | CA361198162 | HARS2 | c.575G>C (p.Cys192Ser) c.353G>C (p.Cys118Ser) c.365G>C (p.Cys122Ser) c.*153G>C (n.*153G>C) c.541G>C c.593G>C (p.Cys198Ser) c.158G>C (p.Cys53Ser) c.500G>C (p.Cys167Ser) c.*375G>C (n.*375G>C) n.582G>C c.143G>C (p.Cys48Ser) c.-160G>C (n.-160G>C) | |
5 | g.140695787G>T | CA361198160 | HARS2 | c.575G>T (p.Cys192Phe) c.353G>T (p.Cys118Phe) c.365G>T (p.Cys122Phe) c.*153G>T (n.*153G>T) c.541G>T c.593G>T (p.Cys198Phe) c.158G>T (p.Cys53Phe) c.500G>T (p.Cys167Phe) c.*375G>T (n.*375G>T) n.582G>T c.143G>T (p.Cys48Phe) c.-160G>T (n.-160G>T) | |
5 | g.140695788T>A | CA361198166 | HARS2 | c.576T>A (p.Cys192Ter) c.354T>A (p.Cys118Ter) c.366T>A (p.Cys122Ter) c.*154T>A (n.*154T>A) c.542T>A c.594T>A (p.Cys198Ter) c.159T>A (p.Cys53Ter) c.501T>A (p.Cys167Ter) c.*376T>A (n.*376T>A) n.583T>A c.144T>A (p.Cys48Ter) c.-159T>A (n.-159T>A) | |
5 | g.140695788T>C | CA446804403 | HARS2 | c.576T>C (p.Cys192=) c.354T>C (p.Cys118=) c.366T>C (p.Cys122=) c.*154T>C (n.*154T>C) c.542T>C c.594T>C (p.Cys198=) c.159T>C (p.Cys53=) c.501T>C (p.Cys167=) c.*376T>C (n.*376T>C) n.583T>C c.144T>C (p.Cys48=) c.-159T>C (n.-159T>C) | |
5 | g.140695788T>G | CA361198168 | HARS2 | c.576T>G (p.Cys192Trp) c.354T>G (p.Cys118Trp) c.366T>G (p.Cys122Trp) c.*154T>G (n.*154T>G) c.542T>G c.594T>G (p.Cys198Trp) c.159T>G (p.Cys53Trp) c.501T>G (p.Cys167Trp) c.*376T>G (n.*376T>G) n.583T>G c.144T>G (p.Cys48Trp) c.-159T>G (n.-159T>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.140695788T= | CA1586866863 | HARS2 | c.576T= (p.Cys192=) c.354T= (p.Cys118=) c.366T= (p.Cys122=) c.*154T= (n.*154T=) c.542T= c.594T= (p.Cys198=) c.159T= (p.Cys53=) c.501T= (p.Cys167=) c.*376T= (n.*376T=) n.583T= c.144T= (p.Cys48=) c.-159T= (n.-159T=) | |
5 | g.140695789T>A | CA361198170 | HARS2 | c.577T>A (p.Leu193Met) c.355T>A (p.Leu119Met) c.367T>A (p.Leu123Met) c.*155T>A (n.*155T>A) c.543T>A c.595T>A (p.Leu199Met) c.160T>A (p.Leu54Met) c.502T>A (p.Leu168Met) c.*377T>A (n.*377T>A) n.584T>A c.145T>A (p.Leu49Met) c.-158T>A (n.-158T>A) | |
5 | g.140695789T>C | CA446804404 | HARS2 | c.577T>C (p.Leu193=) c.355T>C (p.Leu119=) c.367T>C (p.Leu123=) c.*155T>C (n.*155T>C) c.543T>C c.595T>C (p.Leu199=) c.160T>C (p.Leu54=) c.502T>C (p.Leu168=) c.*377T>C (n.*377T>C) n.584T>C c.145T>C (p.Leu49=) c.-158T>C (n.-158T>C) | |
5 | g.140695789T>G | CA361198172 | HARS2 | c.577T>G (p.Leu193Val) c.355T>G (p.Leu119Val) c.367T>G (p.Leu123Val) c.*155T>G (n.*155T>G) c.543T>G c.595T>G (p.Leu199Val) c.160T>G (p.Leu54Val) c.502T>G (p.Leu168Val) c.*377T>G (n.*377T>G) n.584T>G c.145T>G (p.Leu49Val) c.-158T>G (n.-158T>G) | |
5 | g.140695790T>A | CA361198174 | HARS2 | c.578T>A (p.Leu193Ter) c.356T>A (p.Leu119Ter) c.368T>A (p.Leu123Ter) c.*156T>A (n.*156T>A) c.544T>A c.596T>A (p.Leu199Ter) c.161T>A (p.Leu54Ter) c.503T>A (p.Leu168Ter) c.*378T>A (n.*378T>A) n.585T>A c.146T>A (p.Leu49Ter) c.-157T>A (n.-157T>A) | |
5 | g.140695790T>C | CA361198176 | HARS2 | c.578T>C (p.Leu193Ser) c.356T>C (p.Leu119Ser) c.368T>C (p.Leu123Ser) c.*156T>C (n.*156T>C) c.544T>C c.596T>C (p.Leu199Ser) c.161T>C (p.Leu54Ser) c.503T>C (p.Leu168Ser) c.*378T>C (n.*378T>C) n.585T>C c.146T>C (p.Leu49Ser) c.-157T>C (n.-157T>C) | |
5 | g.140695790T>G | CA361198177 | HARS2 | c.578T>G (p.Leu193Trp) c.356T>G (p.Leu119Trp) c.368T>G (p.Leu123Trp) c.*156T>G (n.*156T>G) c.544T>G c.596T>G (p.Leu199Trp) c.161T>G (p.Leu54Trp) c.503T>G (p.Leu168Trp) c.*378T>G (n.*378T>G) n.585T>G c.146T>G (p.Leu49Trp) c.-157T>G (n.-157T>G) | |
5 | g.140695791G>A | CA446804405 | HARS2 | c.579G>A (p.Leu193=) c.357G>A (p.Leu119=) c.369G>A (p.Leu123=) c.*157G>A (n.*157G>A) c.545G>A c.597G>A (p.Leu199=) c.162G>A (p.Leu54=) c.504G>A (p.Leu168=) c.*379G>A (n.*379G>A) n.586G>A c.147G>A (p.Leu49=) c.-156G>A (n.-156G>A) | |
5 | g.140695791G>C | CA361198178 | HARS2 | c.579G>C (p.Leu193Phe) c.357G>C (p.Leu119Phe) c.369G>C (p.Leu123Phe) c.*157G>C (n.*157G>C) c.545G>C c.597G>C (p.Leu199Phe) c.162G>C (p.Leu54Phe) c.504G>C (p.Leu168Phe) c.*379G>C (n.*379G>C) n.586G>C c.147G>C (p.Leu49Phe) c.-156G>C (n.-156G>C) | |
5 | g.140695791G>T | CA361198180 | HARS2 | c.579G>T (p.Leu193Phe) c.357G>T (p.Leu119Phe) c.369G>T (p.Leu123Phe) c.*157G>T (n.*157G>T) c.545G>T c.597G>T (p.Leu199Phe) c.162G>T (p.Leu54Phe) c.504G>T (p.Leu168Phe) c.*379G>T (n.*379G>T) n.586G>T c.147G>T (p.Leu49Phe) c.-156G>T (n.-156G>T) | |
5 | g.140695792A>C | CA361198182 | HARS2 | c.580A>C (p.Lys194Gln) c.358A>C (p.Lys120Gln) c.370A>C (p.Lys124Gln) c.*158A>C (n.*158A>C) c.546A>C c.598A>C (p.Lys200Gln) c.163A>C (p.Lys55Gln) c.505A>C (p.Lys169Gln) c.*380A>C (n.*380A>C) n.587A>C c.148A>C (p.Lys50Gln) c.-155A>C (n.-155A>C) | |
5 | g.140695792A>G | CA361198190 | HARS2 | c.580A>G (p.Lys194Glu) c.358A>G (p.Lys120Glu) c.370A>G (p.Lys124Glu) c.*158A>G (n.*158A>G) c.546A>G c.598A>G (p.Lys200Glu) c.163A>G (p.Lys55Glu) c.505A>G (p.Lys169Glu) c.*380A>G (n.*380A>G) n.587A>G c.148A>G (p.Lys50Glu) c.-155A>G (n.-155A>G) | |
5 | g.140695792A>T | CA361198192 | HARS2 | c.580A>T (p.Lys194Ter) c.358A>T (p.Lys120Ter) c.370A>T (p.Lys124Ter) c.*158A>T (n.*158A>T) c.546A>T c.598A>T (p.Lys200Ter) c.163A>T (p.Lys55Ter) c.505A>T (p.Lys169Ter) c.*380A>T (n.*380A>T) n.587A>T c.148A>T (p.Lys50Ter) c.-155A>T (n.-155A>T) | |
5 | g.140695793del | CA2675626040 | HARS2 | c.581del (p.Lys194ArgfsTer7) c.359del (p.Lys120ArgfsTer7) c.371del (p.Lys124ArgfsTer7) c.*159del (n.*159del) c.547del c.599del (p.Lys200ArgfsTer7) c.164del (p.Lys55ArgfsTer7) c.506del (p.Lys169ArgfsTer7) c.*381del (n.*381del) n.588del c.149del (p.Lys50ArgfsTer7) c.-154del (n.-154del) | gnomAD v4 |
5 | g.140695793A>C | CA361198201 | HARS2 | c.581A>C (p.Lys194Thr) c.359A>C (p.Lys120Thr) c.371A>C (p.Lys124Thr) c.*159A>C (n.*159A>C) c.547A>C c.599A>C (p.Lys200Thr) c.164A>C (p.Lys55Thr) c.506A>C (p.Lys169Thr) c.*381A>C (n.*381A>C) n.588A>C c.149A>C (p.Lys50Thr) c.-154A>C (n.-154A>C) | |
5 | g.140695793A>G | CA361198198 | HARS2 | c.581A>G (p.Lys194Arg) c.359A>G (p.Lys120Arg) c.371A>G (p.Lys124Arg) c.*159A>G (n.*159A>G) c.547A>G c.599A>G (p.Lys200Arg) c.164A>G (p.Lys55Arg) c.506A>G (p.Lys169Arg) c.*381A>G (n.*381A>G) n.588A>G c.149A>G (p.Lys50Arg) c.-154A>G (n.-154A>G) | |
5 | g.140695793A>T | CA361198197 | HARS2 | c.581A>T (p.Lys194Met) c.359A>T (p.Lys120Met) c.371A>T (p.Lys124Met) c.*159A>T (n.*159A>T) c.547A>T c.599A>T (p.Lys200Met) c.164A>T (p.Lys55Met) c.506A>T (p.Lys169Met) c.*381A>T (n.*381A>T) n.588A>T c.149A>T (p.Lys50Met) c.-154A>T (n.-154A>T) | |
5 | g.140695794G>A | CA446804406 | HARS2 | c.582G>A (p.Lys194=) c.360G>A (p.Lys120=) c.372G>A (p.Lys124=) c.*160G>A (n.*160G>A) c.548G>A c.600G>A (p.Lys200=) c.165G>A (p.Lys55=) c.507G>A (p.Lys169=) c.*382G>A (n.*382G>A) n.589G>A c.150G>A (p.Lys50=) c.-153G>A (n.-153G>A) | |
5 | g.140695794G>C | CA361198204 | HARS2 | c.582G>C (p.Lys194Asn) c.360G>C (p.Lys120Asn) c.372G>C (p.Lys124Asn) c.*160G>C (n.*160G>C) c.548G>C c.600G>C (p.Lys200Asn) c.165G>C (p.Lys55Asn) c.507G>C (p.Lys169Asn) c.*382G>C (n.*382G>C) n.589G>C c.150G>C (p.Lys50Asn) c.-153G>C (n.-153G>C) | |
5 | g.140695794G>T | CA361198203 | HARS2 | c.582G>T (p.Lys194Asn) c.360G>T (p.Lys120Asn) c.372G>T (p.Lys124Asn) c.*160G>T (n.*160G>T) c.548G>T c.600G>T (p.Lys200Asn) c.165G>T (p.Lys55Asn) c.507G>T (p.Lys169Asn) c.*382G>T (n.*382G>T) n.589G>T c.150G>T (p.Lys50Asn) c.-153G>T (n.-153G>T) | |
5 | g.140695795A>C | CA361198205 | HARS2 | c.583A>C (p.Ile195Leu) c.361A>C (p.Ile121Leu) c.373A>C (p.Ile125Leu) c.*161A>C (n.*161A>C) c.549A>C c.601A>C (p.Ile201Leu) c.166A>C (p.Ile56Leu) c.508A>C (p.Ile170Leu) c.*383A>C (n.*383A>C) n.590A>C c.151A>C (p.Ile51Leu) c.-152A>C (n.-152A>C) | |
5 | g.140695795A>G | CA361198206 | HARS2 | c.583A>G (p.Ile195Val) c.361A>G (p.Ile121Val) c.373A>G (p.Ile125Val) c.*161A>G (n.*161A>G) c.549A>G c.601A>G (p.Ile201Val) c.166A>G (p.Ile56Val) c.508A>G (p.Ile170Val) c.*383A>G (n.*383A>G) n.590A>G c.151A>G (p.Ile51Val) c.-152A>G (n.-152A>G) | |
5 | g.140695795A>T | CA361198209 | HARS2 | c.583A>T (p.Ile195Phe) c.361A>T (p.Ile121Phe) c.373A>T (p.Ile125Phe) c.*161A>T (n.*161A>T) c.549A>T c.601A>T (p.Ile201Phe) c.166A>T (p.Ile56Phe) c.508A>T (p.Ile170Phe) c.*383A>T (n.*383A>T) n.590A>T c.151A>T (p.Ile51Phe) c.-152A>T (n.-152A>T) | |
5 | g.140695796T>A | CA361198211 | HARS2 | c.584T>A (p.Ile195Asn) c.362T>A (p.Ile121Asn) c.374T>A (p.Ile125Asn) c.*162T>A (n.*162T>A) c.550T>A c.602T>A (p.Ile201Asn) c.167T>A (p.Ile56Asn) c.509T>A (p.Ile170Asn) c.*384T>A (n.*384T>A) n.591T>A c.152T>A (p.Ile51Asn) c.-151T>A (n.-151T>A) | |
5 | g.140695796T>C | CA361198212 | HARS2 | c.584T>C (p.Ile195Thr) c.362T>C (p.Ile121Thr) c.374T>C (p.Ile125Thr) c.*162T>C (n.*162T>C) c.550T>C c.602T>C (p.Ile201Thr) c.167T>C (p.Ile56Thr) c.509T>C (p.Ile170Thr) c.*384T>C (n.*384T>C) n.591T>C c.152T>C (p.Ile51Thr) c.-151T>C (n.-151T>C) | |
5 | g.140695796T>G | CA361198214 | HARS2 | c.584T>G (p.Ile195Ser) c.362T>G (p.Ile121Ser) c.374T>G (p.Ile125Ser) c.*162T>G (n.*162T>G) c.550T>G c.602T>G (p.Ile201Ser) c.167T>G (p.Ile56Ser) c.509T>G (p.Ile170Ser) c.*384T>G (n.*384T>G) n.591T>G c.152T>G (p.Ile51Ser) c.-151T>G (n.-151T>G) | |
5 | g.140695797C>A | CA446804407 | HARS2 | c.585C>A (p.Ile195=) c.363C>A (p.Ile121=) c.375C>A (p.Ile125=) c.*163C>A (n.*163C>A) c.551C>A c.603C>A (p.Ile201=) c.168C>A (p.Ile56=) c.510C>A (p.Ile170=) c.*385C>A (n.*385C>A) n.592C>A c.153C>A (p.Ile51=) c.-150C>A (n.-150C>A) | |
5 | g.140695797C= | CA1586866870 | HARS2 | c.585C= (p.Ile195=) c.363C= (p.Ile121=) c.375C= (p.Ile125=) c.*163C= (n.*163C=) c.551C= c.603C= (p.Ile201=) c.168C= (p.Ile56=) c.510C= (p.Ile170=) c.*385C= (n.*385C=) n.592C= c.153C= (p.Ile51=) c.-150C= (n.-150C=) | |
5 | g.140695797C>G | CA361198216 | HARS2 | c.585C>G (p.Ile195Met) c.363C>G (p.Ile121Met) c.375C>G (p.Ile125Met) c.*163C>G (n.*163C>G) c.551C>G c.603C>G (p.Ile201Met) c.168C>G (p.Ile56Met) c.510C>G (p.Ile170Met) c.*385C>G (n.*385C>G) n.592C>G c.153C>G (p.Ile51Met) c.-150C>G (n.-150C>G) | |
5 | g.140695797C>T | CA446804408 | HARS2 | c.585C>T (p.Ile195=) c.363C>T (p.Ile121=) c.375C>T (p.Ile125=) c.*163C>T (n.*163C>T) c.551C>T c.603C>T (p.Ile201=) c.168C>T (p.Ile56=) c.510C>T (p.Ile170=) c.*385C>T (n.*385C>T) n.592C>T c.153C>T (p.Ile51=) c.-150C>T (n.-150C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140695797_140695799delinsCAT | CA1586866871 | HARS2 | c.585_587delinsCAT (p.Ile195=) c.363_365delinsCAT (p.Ile121=) c.375_377delinsCAT (p.Ile125=) c.*163_*165delinsCAT (n.*163_*165delinsCAT) c.551_553delinsCAT c.603_605delinsCAT (p.Ile201=) c.168_170delinsCAT (p.Ile56=) c.510_512delinsCAT (p.Ile170=) c.*385_*387delinsCAT (n.*385_*387delinsCAT) n.592_594delinsCAT c.153_155delinsCAT (p.Ile51=) c.-150_-148delinsCAT (n.-150_-148delinsCAT) | |
5 | g.140695798A= | CA1586866881 | HARS2 | c.586A= (p.Met196=) c.364A= (p.Met122=) c.376A= (p.Met126=) c.*164A= (n.*164A=) c.552A= c.604A= (p.Met202=) c.169A= (p.Met57=) c.511A= (p.Met171=) c.*386A= (n.*386A=) n.593A= c.154A= (p.Met52=) c.-149A= (n.-149A=) | |
5 | g.140695798A>C | CA3444470 | HARS2 | c.586A>C (p.Met196Leu) c.364A>C (p.Met122Leu) c.376A>C (p.Met126Leu) c.*164A>C (n.*164A>C) c.552A>C c.604A>C (p.Met202Leu) c.169A>C (p.Met57Leu) c.511A>C (p.Met171Leu) c.*386A>C (n.*386A>C) n.593A>C c.154A>C (p.Met52Leu) c.-149A>C (n.-149A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140695798A>G | CA361198217 | HARS2 | c.586A>G (p.Met196Val) c.364A>G (p.Met122Val) c.376A>G (p.Met126Val) c.*164A>G (n.*164A>G) c.552A>G c.604A>G (p.Met202Val) c.169A>G (p.Met57Val) c.511A>G (p.Met171Val) c.*386A>G (n.*386A>G) n.593A>G c.154A>G (p.Met52Val) c.-149A>G (n.-149A>G) | gnomAD v4 |
5 | g.140695798A>T | CA361198220 | HARS2 | c.586A>T (p.Met196Leu) c.364A>T (p.Met122Leu) c.376A>T (p.Met126Leu) c.*164A>T (n.*164A>T) c.552A>T c.604A>T (p.Met202Leu) c.169A>T (p.Met57Leu) c.511A>T (p.Met171Leu) c.*386A>T (n.*386A>T) n.593A>T c.154A>T (p.Met52Leu) c.-149A>T (n.-149A>T) | |
5 | g.140695798_140695799del | CA1082227509 | HARS2 | c.586_587del (p.Met196ValfsTer2) c.364_365del (p.Met122ValfsTer2) c.376_377del (p.Met126ValfsTer2) c.*164_*165del (n.*164_*165del) c.552_553del c.604_605del (p.Met202ValfsTer2) c.169_170del (p.Met57ValfsTer2) c.511_512del (p.Met171ValfsTer2) c.*386_*387del (n.*386_*387del) n.593_594del c.154_155del (p.Met52ValfsTer2) c.-149_-148del (n.-149_-148del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.140695799T>A | CA361198222 | HARS2 | c.587T>A (p.Met196Lys) c.365T>A (p.Met122Lys) c.377T>A (p.Met126Lys) c.*165T>A (n.*165T>A) c.553T>A c.605T>A (p.Met202Lys) c.170T>A (p.Met57Lys) c.512T>A (p.Met171Lys) c.*387T>A (n.*387T>A) n.594T>A c.155T>A (p.Met52Lys) c.-148T>A (n.-148T>A) | |
5 | g.140695799T>C | CA3444471 | HARS2 | c.587T>C (p.Met196Thr) c.365T>C (p.Met122Thr) c.377T>C (p.Met126Thr) c.*165T>C (n.*165T>C) c.553T>C c.605T>C (p.Met202Thr) c.170T>C (p.Met57Thr) c.512T>C (p.Met171Thr) c.*387T>C (n.*387T>C) n.594T>C c.155T>C (p.Met52Thr) c.-148T>C (n.-148T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.140695799T>G | CA361198223 | HARS2 | c.587T>G (p.Met196Arg) c.365T>G (p.Met122Arg) c.377T>G (p.Met126Arg) c.*165T>G (n.*165T>G) c.553T>G c.605T>G (p.Met202Arg) c.170T>G (p.Met57Arg) c.512T>G (p.Met171Arg) c.*387T>G (n.*387T>G) n.594T>G c.155T>G (p.Met52Arg) c.-148T>G (n.-148T>G) | |
5 | g.140695799T= | CA1586866884 | HARS2 | c.587T= (p.Met196=) c.365T= (p.Met122=) c.377T= (p.Met126=) c.*165T= (n.*165T=) c.553T= c.605T= (p.Met202=) c.170T= (p.Met57=) c.512T= (p.Met171=) c.*387T= (n.*387T=) n.594T= c.155T= (p.Met52=) c.-148T= (n.-148T=) | |
5 | g.140695800G>A | CA361198226 | HARS2 | c.588G>A (p.Met196Ile) c.366G>A (p.Met122Ile) c.378G>A (p.Met126Ile) c.*166G>A (n.*166G>A) c.554G>A c.606G>A (p.Met202Ile) c.171G>A (p.Met57Ile) c.513G>A (p.Met171Ile) c.*388G>A (n.*388G>A) n.595G>A c.156G>A (p.Met52Ile) c.-147G>A (n.-147G>A) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.140695800G>C | CA3444472 | HARS2 | c.588G>C (p.Met196Ile) c.366G>C (p.Met122Ile) c.378G>C (p.Met126Ile) c.*166G>C (n.*166G>C) c.554G>C c.606G>C (p.Met202Ile) c.171G>C (p.Met57Ile) c.513G>C (p.Met171Ile) c.*388G>C (n.*388G>C) n.595G>C c.156G>C (p.Met52Ile) c.-147G>C (n.-147G>C) | dbSNP ExAC gnomAD v2 |
5 | g.140695800G= | CA1586866892 | HARS2 | c.588G= (p.Met196=) c.366G= (p.Met122=) c.378G= (p.Met126=) c.*166G= (n.*166G=) c.554G= c.606G= (p.Met202=) c.171G= (p.Met57=) c.513G= (p.Met171=) c.*388G= (n.*388G=) n.595G= c.156G= (p.Met52=) c.-147G= (n.-147G=) | |
5 | g.140695800G>T | CA361198228 | HARS2 | c.588G>T (p.Met196Ile) c.366G>T (p.Met122Ile) c.378G>T (p.Met126Ile) c.*166G>T (n.*166G>T) c.554G>T c.606G>T (p.Met202Ile) c.171G>T (p.Met57Ile) c.513G>T (p.Met171Ile) c.*388G>T (n.*388G>T) n.595G>T c.156G>T (p.Met52Ile) c.-147G>T (n.-147G>T) | gnomAD v4 |
5 | g.140695801T>A | CA361198231 | HARS2 | c.589T>A (p.Cys197Ser) c.367T>A (p.Cys123Ser) c.379T>A (p.Cys127Ser) c.*167T>A (n.*167T>A) c.555T>A c.607T>A (p.Cys203Ser) c.172T>A (p.Cys58Ser) c.514T>A (p.Cys172Ser) c.*389T>A (n.*389T>A) n.596T>A c.157T>A (p.Cys53Ser) c.-146T>A (n.-146T>A) | |
5 | g.140695801T>C | CA361198233 | HARS2 | c.589T>C (p.Cys197Arg) c.367T>C (p.Cys123Arg) c.379T>C (p.Cys127Arg) c.*167T>C (n.*167T>C) c.555T>C c.607T>C (p.Cys203Arg) c.172T>C (p.Cys58Arg) c.514T>C (p.Cys172Arg) c.*389T>C (n.*389T>C) n.596T>C c.157T>C (p.Cys53Arg) c.-146T>C (n.-146T>C) | |
5 | g.140695801T>G | CA361198235 | HARS2 | c.589T>G (p.Cys197Gly) c.367T>G (p.Cys123Gly) c.379T>G (p.Cys127Gly) c.*167T>G (n.*167T>G) c.555T>G c.607T>G (p.Cys203Gly) c.172T>G (p.Cys58Gly) c.514T>G (p.Cys172Gly) c.*389T>G (n.*389T>G) n.596T>G c.157T>G (p.Cys53Gly) c.-146T>G (n.-146T>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.140695801T= | CA1586866896 | HARS2 | c.589T= (p.Cys197=) c.367T= (p.Cys123=) c.379T= (p.Cys127=) c.*167T= (n.*167T=) c.555T= c.607T= (p.Cys203=) c.172T= (p.Cys58=) c.514T= (p.Cys172=) c.*389T= (n.*389T=) n.596T= c.157T= (p.Cys53=) c.-146T= (n.-146T=) | |
5 | g.140695802G>A | CA361198237 | HARS2 | c.590G>A (p.Cys197Tyr) c.368G>A (p.Cys123Tyr) c.380G>A (p.Cys127Tyr) c.*168G>A (n.*168G>A) c.556G>A c.608G>A (p.Cys203Tyr) c.173G>A (p.Cys58Tyr) c.515G>A (p.Cys172Tyr) c.*390G>A (n.*390G>A) n.597G>A c.158G>A (p.Cys53Tyr) c.-145G>A (n.-145G>A) | dbSNP |
5 | g.140695802G>C | CA361198238 | HARS2 | c.590G>C (p.Cys197Ser) c.368G>C (p.Cys123Ser) c.380G>C (p.Cys127Ser) c.*168G>C (n.*168G>C) c.556G>C c.608G>C (p.Cys203Ser) c.173G>C (p.Cys58Ser) c.515G>C (p.Cys172Ser) c.*390G>C (n.*390G>C) n.597G>C c.158G>C (p.Cys53Ser) c.-145G>C (n.-145G>C) | |
5 | g.140695802G>T | CA361198240 | HARS2 | c.590G>T (p.Cys197Phe) c.368G>T (p.Cys123Phe) c.380G>T (p.Cys127Phe) c.*168G>T (n.*168G>T) c.556G>T c.608G>T (p.Cys203Phe) c.173G>T (p.Cys58Phe) c.515G>T (p.Cys172Phe) c.*390G>T (n.*390G>T) n.597G>T c.158G>T (p.Cys53Phe) c.-145G>T (n.-145G>T) | |
5 | g.140695803T>A | CA361198242 | HARS2 | c.591T>A (p.Cys197Ter) c.369T>A (p.Cys123Ter) c.381T>A (p.Cys127Ter) c.*169T>A (n.*169T>A) c.557T>A c.609T>A (p.Cys203Ter) c.174T>A (p.Cys58Ter) c.516T>A (p.Cys172Ter) c.*391T>A (n.*391T>A) n.598T>A c.159T>A (p.Cys53Ter) c.-144T>A (n.-144T>A) | |
5 | g.140695803T>C | CA446804413 | HARS2 | c.591T>C (p.Cys197=) c.369T>C (p.Cys123=) c.381T>C (p.Cys127=) c.*169T>C (n.*169T>C) c.557T>C c.609T>C (p.Cys203=) c.174T>C (p.Cys58=) c.516T>C (p.Cys172=) c.*391T>C (n.*391T>C) n.598T>C c.159T>C (p.Cys53=) c.-144T>C (n.-144T>C) | |
5 | g.140695803T>G | CA361198243 | HARS2 | c.591T>G (p.Cys197Trp) c.369T>G (p.Cys123Trp) c.381T>G (p.Cys127Trp) c.*169T>G (n.*169T>G) c.557T>G c.609T>G (p.Cys203Trp) c.174T>G (p.Cys58Trp) c.516T>G (p.Cys172Trp) c.*391T>G (n.*391T>G) n.598T>G c.159T>G (p.Cys53Trp) c.-144T>G (n.-144T>G) | |
5 | g.140695804G>A | CA361198245 | HARS2 | c.592G>A (p.Glu198Lys) c.370G>A (p.Glu124Lys) c.382G>A (p.Glu128Lys) c.*170G>A (n.*170G>A) c.558G>A c.610G>A (p.Glu204Lys) c.175G>A (p.Glu59Lys) c.517G>A (p.Glu173Lys) c.*392G>A (n.*392G>A) n.599G>A c.160G>A (p.Glu54Lys) c.-143G>A (n.-143G>A) | |
5 | g.140695804G>C | CA361198247 | HARS2 | c.592G>C (p.Glu198Gln) c.370G>C (p.Glu124Gln) c.382G>C (p.Glu128Gln) c.*170G>C (n.*170G>C) c.558G>C c.610G>C (p.Glu204Gln) c.175G>C (p.Glu59Gln) c.517G>C (p.Glu173Gln) c.*392G>C (n.*392G>C) n.599G>C c.160G>C (p.Glu54Gln) c.-143G>C (n.-143G>C) | |
5 | g.140695804G>T | CA361198249 | HARS2 | c.592G>T (p.Glu198Ter) c.370G>T (p.Glu124Ter) c.382G>T (p.Glu128Ter) c.*170G>T (n.*170G>T) c.558G>T c.610G>T (p.Glu204Ter) c.175G>T (p.Glu59Ter) c.517G>T (p.Glu173Ter) c.*392G>T (n.*392G>T) n.599G>T c.160G>T (p.Glu54Ter) c.-143G>T (n.-143G>T) | |
5 | g.140695805A>C | CA361198253 | HARS2 | c.593A>C (p.Glu198Ala) c.371A>C (p.Glu124Ala) c.383A>C (p.Glu128Ala) c.*171A>C (n.*171A>C) c.559A>C c.611A>C (p.Glu204Ala) c.176A>C (p.Glu59Ala) c.518A>C (p.Glu173Ala) c.*393A>C (n.*393A>C) n.600A>C c.161A>C (p.Glu54Ala) c.-142A>C (n.-142A>C) | |
5 | g.140695805A>G | CA361198255 | HARS2 | c.593A>G (p.Glu198Gly) c.371A>G (p.Glu124Gly) c.383A>G (p.Glu128Gly) c.*171A>G (n.*171A>G) c.559A>G c.611A>G (p.Glu204Gly) c.176A>G (p.Glu59Gly) c.518A>G (p.Glu173Gly) c.*393A>G (n.*393A>G) n.600A>G c.161A>G (p.Glu54Gly) c.-142A>G (n.-142A>G) | |
5 | g.140695805A>T | CA361198251 | HARS2 | c.593A>T (p.Glu198Val) c.371A>T (p.Glu124Val) c.383A>T (p.Glu128Val) c.*171A>T (n.*171A>T) c.559A>T c.611A>T (p.Glu204Val) c.176A>T (p.Glu59Val) c.518A>T (p.Glu173Val) c.*393A>T (n.*393A>T) n.600A>T c.161A>T (p.Glu54Val) c.-142A>T (n.-142A>T) | |
5 | g.140695806A>C | CA361198257 | HARS2 | c.594A>C (p.Glu198Asp) c.372A>C (p.Glu124Asp) c.384A>C (p.Glu128Asp) c.*172A>C (n.*172A>C) c.560A>C c.612A>C (p.Glu204Asp) c.177A>C (p.Glu59Asp) c.519A>C (p.Glu173Asp) c.*394A>C (n.*394A>C) n.601A>C c.162A>C (p.Glu54Asp) c.-141A>C (n.-141A>C) | |
5 | g.140695806A>G | CA446804415 | HARS2 | c.594A>G (p.Glu198=) c.372A>G (p.Glu124=) c.384A>G (p.Glu128=) c.*172A>G (n.*172A>G) c.560A>G c.612A>G (p.Glu204=) c.177A>G (p.Glu59=) c.519A>G (p.Glu173=) c.*394A>G (n.*394A>G) n.601A>G c.162A>G (p.Glu54=) c.-141A>G (n.-141A>G) | |
5 | g.140695806A>T | CA361198258 | HARS2 | c.594A>T (p.Glu198Asp) c.372A>T (p.Glu124Asp) c.384A>T (p.Glu128Asp) c.*172A>T (n.*172A>T) c.560A>T c.612A>T (p.Glu204Asp) c.177A>T (p.Glu59Asp) c.519A>T (p.Glu173Asp) c.*394A>T (n.*394A>T) n.601A>T c.162A>T (p.Glu54Asp) c.-141A>T (n.-141A>T) | |
5 | g.140695807A= | CA1586866897 | HARS2 | c.595A= (p.Ile199=) c.373A= (p.Ile125=) c.385A= (p.Ile129=) c.*173A= (n.*173A=) c.561A= c.613A= (p.Ile205=) c.178A= (p.Ile60=) c.520A= (p.Ile174=) c.*395A= (n.*395A=) n.602A= c.163A= (p.Ile55=) c.-140A= (n.-140A=) | |
5 | g.140695807A>C | CA361198260 | HARS2 | c.595A>C (p.Ile199Leu) c.373A>C (p.Ile125Leu) c.385A>C (p.Ile129Leu) c.*173A>C (n.*173A>C) c.561A>C c.613A>C (p.Ile205Leu) c.178A>C (p.Ile60Leu) c.520A>C (p.Ile174Leu) c.*395A>C (n.*395A>C) n.602A>C c.163A>C (p.Ile55Leu) c.-140A>C (n.-140A>C) | |
5 | g.140695807A>G | CA361198262 | HARS2 | c.595A>G (p.Ile199Val) c.373A>G (p.Ile125Val) c.385A>G (p.Ile129Val) c.*173A>G (n.*173A>G) c.561A>G c.613A>G (p.Ile205Val) c.178A>G (p.Ile60Val) c.520A>G (p.Ile174Val) c.*395A>G (n.*395A>G) n.602A>G c.163A>G (p.Ile55Val) c.-140A>G (n.-140A>G) | dbSNP |
5 | g.140695807A>T | CA361198263 | HARS2 | c.595A>T (p.Ile199Phe) c.373A>T (p.Ile125Phe) c.385A>T (p.Ile129Phe) c.*173A>T (n.*173A>T) c.561A>T c.613A>T (p.Ile205Phe) c.178A>T (p.Ile60Phe) c.520A>T (p.Ile174Phe) c.*395A>T (n.*395A>T) n.602A>T c.163A>T (p.Ile55Phe) c.-140A>T (n.-140A>T) | |
5 | g.140695808T>A | CA361198265 | HARS2 | c.596T>A (p.Ile199Asn) c.374T>A (p.Ile125Asn) c.386T>A (p.Ile129Asn) c.*174T>A (n.*174T>A) c.562T>A c.614T>A (p.Ile205Asn) c.179T>A (p.Ile60Asn) c.521T>A (p.Ile174Asn) c.*396T>A (n.*396T>A) n.603T>A c.164T>A (p.Ile55Asn) c.-139T>A (n.-139T>A) | |
5 | g.140695808T>C | CA361198267 | HARS2 | c.596T>C (p.Ile199Thr) c.374T>C (p.Ile125Thr) c.386T>C (p.Ile129Thr) c.*174T>C (n.*174T>C) c.562T>C c.614T>C (p.Ile205Thr) c.179T>C (p.Ile60Thr) c.521T>C (p.Ile174Thr) c.*396T>C (n.*396T>C) n.603T>C c.164T>C (p.Ile55Thr) c.-139T>C (n.-139T>C) | |
5 | g.140695808T>G | CA361198269 | HARS2 | c.596T>G (p.Ile199Ser) c.374T>G (p.Ile125Ser) c.386T>G (p.Ile129Ser) c.*174T>G (n.*174T>G) c.562T>G c.614T>G (p.Ile205Ser) c.179T>G (p.Ile60Ser) c.521T>G (p.Ile174Ser) c.*396T>G (n.*396T>G) n.603T>G c.164T>G (p.Ile55Ser) c.-139T>G (n.-139T>G) | |
5 | g.140695808_140695809delinsTC | CA1586866900 | HARS2 | c.596_597delinsTC (p.Ile199=) c.374_375delinsTC (p.Ile125=) c.386_387delinsTC (p.Ile129=) c.*174_*175delinsTC (n.*174_*175delinsTC) c.562_563delinsTC c.614_615delinsTC (p.Ile205=) c.179_180delinsTC (p.Ile60=) c.521_522delinsTC (p.Ile174=) c.*396_*397delinsTC (n.*396_*397delinsTC) n.603_604delinsTC c.164_165delinsTC (p.Ile55=) c.-139_-138delinsTC (n.-139_-138delinsTC) | |
5 | g.140695809C>A | CA446804418 | HARS2 | c.597C>A (p.Ile199=) c.375C>A (p.Ile125=) c.387C>A (p.Ile129=) c.*175C>A (n.*175C>A) c.563C>A c.615C>A (p.Ile205=) c.180C>A (p.Ile60=) c.522C>A (p.Ile174=) c.*397C>A (n.*397C>A) n.604C>A c.165C>A (p.Ile55=) c.-138C>A (n.-138C>A) | |
5 | g.140695809C= | CA1586866908 | HARS2 | c.597C= (p.Ile199=) c.375C= (p.Ile125=) c.387C= (p.Ile129=) c.*175C= (n.*175C=) c.563C= c.615C= (p.Ile205=) c.180C= (p.Ile60=) c.522C= (p.Ile174=) c.*397C= (n.*397C=) n.604C= c.165C= (p.Ile55=) c.-138C= (n.-138C=) | |
5 | g.140695809C>G | CA128341939 | HARS2 | c.597C>G (p.Ile199Met) c.375C>G (p.Ile125Met) c.387C>G (p.Ile129Met) c.*175C>G (n.*175C>G) c.563C>G c.615C>G (p.Ile205Met) c.180C>G (p.Ile60Met) c.522C>G (p.Ile174Met) c.*397C>G (n.*397C>G) n.604C>G c.165C>G (p.Ile55Met) c.-138C>G (n.-138C>G) | dbSNP |
5 | g.140695809C>T | CA446804419 | HARS2 | c.597C>T (p.Ile199=) c.375C>T (p.Ile125=) c.387C>T (p.Ile129=) c.*175C>T (n.*175C>T) c.563C>T c.615C>T (p.Ile205=) c.180C>T (p.Ile60=) c.522C>T (p.Ile174=) c.*397C>T (n.*397C>T) n.604C>T c.165C>T (p.Ile55=) c.-138C>T (n.-138C>T) | |
5 | g.140695810del | CA563500232 | HARS2 | c.598del (p.Leu200Ter) c.376del (p.Leu126Ter) c.388del (p.Leu130Ter) c.*176del (n.*176del) c.564del c.616del (p.Leu206Ter) c.181del (p.Leu61Ter) c.523del (p.Leu175Ter) c.*398del (n.*398del) n.605del c.166del (p.Leu56Ter) c.-137del (n.-137del) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.140695810C>A | CA361198272 | HARS2 | c.598C>A (p.Leu200Ile) c.376C>A (p.Leu126Ile) c.388C>A (p.Leu130Ile) c.*176C>A (n.*176C>A) c.564C>A c.616C>A (p.Leu206Ile) c.181C>A (p.Leu61Ile) c.523C>A (p.Leu175Ile) c.*398C>A (n.*398C>A) n.605C>A c.166C>A (p.Leu56Ile) c.-137C>A (n.-137C>A) | |
5 | g.140695810C= | CA1586866918 | HARS2 | c.598C= (p.Leu200=) c.376C= (p.Leu126=) c.388C= (p.Leu130=) c.*176C= (n.*176C=) c.564C= c.616C= (p.Leu206=) c.181C= (p.Leu61=) c.523C= (p.Leu175=) c.*398C= (n.*398C=) n.605C= c.166C= (p.Leu56=) c.-137C= (n.-137C=) | |
5 | g.140695810C>G | CA343806 | HARS2 | c.598C>G (p.Leu200Val) c.376C>G (p.Leu126Val) c.388C>G (p.Leu130Val) c.*176C>G (n.*176C>G) c.564C>G c.616C>G (p.Leu206Val) c.181C>G (p.Leu61Val) c.523C>G (p.Leu175Val) c.*398C>G (n.*398C>G) n.605C>G c.166C>G (p.Leu56Val) c.-137C>G (n.-137C>G) | ClinVar dbSNP gnomAD v2 |
5 | g.140695810C>T | CA446804420 | HARS2 | c.598C>T (p.Leu200=) c.376C>T (p.Leu126=) c.388C>T (p.Leu130=) c.*176C>T (n.*176C>T) c.564C>T c.616C>T (p.Leu206=) c.181C>T (p.Leu61=) c.523C>T (p.Leu175=) c.*398C>T (n.*398C>T) n.605C>T c.166C>T (p.Leu56=) c.-137C>T (n.-137C>T) | gnomAD v4 |