UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13841665_13841674delinsCATACTTTCA | CA1528458288 | DNAH5 | c.5484+18_5484+27delinsTGAAAGTATG (n.5484+18_5484+27delinsTGAAAGTATG) c.5439+18_5439+27delinsTGAAAGTATG (n.5439+18_5439+27delinsTGAAAGTATG) n.5691+18_5691+27delinsTGAAAGTATG c.5592+18_5592+27delinsTGAAAGTATG (n.5592+18_5592+27delinsTGAAAGTATG) c.4497+18_4497+27delinsTGAAAGTATG (n.4497+18_4497+27delinsTGAAAGTATG) c.681+18_681+27delinsTGAAAGTATG (n.681+18_681+27delinsTGAAAGTATG) c.234+18_234+27delinsTGAAAGTATG (n.234+18_234+27delinsTGAAAGTATG) c.4086+18_4086+27delinsTGAAAGTATG (n.4086+18_4086+27delinsTGAAAGTATG) n.5609+18_5609+27delinsTGAAAGTATG | |
| 5 | g.13841667_13841668del | CA557871646 | DNAH5 | c.5484+25_5484+26del (n.5484+25_5484+26del) c.5439+25_5439+26del (n.5439+25_5439+26del) n.5691+25_5691+26del c.5592+25_5592+26del (n.5592+25_5592+26del) c.4497+25_4497+26del (n.4497+25_4497+26del) c.681+25_681+26del (n.681+25_681+26del) c.234+25_234+26del (n.234+25_234+26del) c.4086+25_4086+26del (n.4086+25_4086+26del) n.5609+25_5609+26del | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13841667_13841675del | CA359210579 | DNAH5 | c.5484+18_5484+26del (n.5484+18_5484+26del) c.5439+18_5439+26del (n.5439+18_5439+26del) n.5691+18_5691+26del c.5592+18_5592+26del (n.5592+18_5592+26del) c.4497+18_4497+26del (n.4497+18_4497+26del) c.681+18_681+26del (n.681+18_681+26del) c.234+18_234+26del (n.234+18_234+26del) c.4086+18_4086+26del (n.4086+18_4086+26del) n.5609+18_5609+26del | dbSNP |
| 5 | g.13841668A= | CA1528458300 | DNAH5 | c.5484+24T= (n.5484+24T=) c.5439+24T= (n.5439+24T=) n.5691+24T= c.5592+24T= (n.5592+24T=) c.4497+24T= (n.4497+24T=) c.681+24T= (n.681+24T=) c.234+24T= (n.234+24T=) c.4086+24T= (n.4086+24T=) n.5609+24T= | |
| 5 | g.13841668A>G | CA557871650 | DNAH5 | c.5484+24T>C (n.5484+24T>C) c.5439+24T>C (n.5439+24T>C) n.5691+24T>C c.5592+24T>C (n.5592+24T>C) c.4497+24T>C (n.4497+24T>C) c.681+24T>C (n.681+24T>C) c.234+24T>C (n.234+24T>C) c.4086+24T>C (n.4086+24T>C) n.5609+24T>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13841668A>T | CA1073394633 | DNAH5 | c.5484+24T>A (n.5484+24T>A) c.5439+24T>A (n.5439+24T>A) n.5691+24T>A c.5592+24T>A (n.5592+24T>A) c.4497+24T>A (n.4497+24T>A) c.681+24T>A (n.681+24T>A) c.234+24T>A (n.234+24T>A) c.4086+24T>A (n.4086+24T>A) n.5609+24T>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13841670T>A | CA1528458303 | DNAH5 | c.5484+22A>T (n.5484+22A>T) c.5439+22A>T (n.5439+22A>T) n.5691+22A>T c.5592+22A>T (n.5592+22A>T) c.4497+22A>T (n.4497+22A>T) c.681+22A>T (n.681+22A>T) c.234+22A>T (n.234+22A>T) c.4086+22A>T (n.4086+22A>T) n.5609+22A>T | dbSNP |
| 5 | g.13841670T= | CA1528458301 | DNAH5 | c.5484+22A= (n.5484+22A=) c.5439+22A= (n.5439+22A=) n.5691+22A= c.5592+22A= (n.5592+22A=) c.4497+22A= (n.4497+22A=) c.681+22A= (n.681+22A=) c.234+22A= (n.234+22A=) c.4086+22A= (n.4086+22A=) n.5609+22A= | |
| 5 | g.13841670_13841671insGACCTGAGCATTTGAATACAGGGAAA | CA557871651 | DNAH5 | c.5484+21_5484+22insTTTCCCTGTATTCAAATGCTCAGGTC (n.5484+21_5484+22insTTTCCCTGTATTCAAATGCTCAGGTC) c.5439+21_5439+22insTTTCCCTGTATTCAAATGCTCAGGTC (n.5439+21_5439+22insTTTCCCTGTATTCAAATGCTCAGGTC) n.5691+21_5691+22insTTTCCCTGTATTCAAATGCTCAGGTC c.5592+21_5592+22insTTTCCCTGTATTCAAATGCTCAGGTC (n.5592+21_5592+22insTTTCCCTGTATTCAAATGCTCAGGTC) c.4497+21_4497+22insTTTCCCTGTATTCAAATGCTCAGGTC (n.4497+21_4497+22insTTTCCCTGTATTCAAATGCTCAGGTC) c.681+21_681+22insTTTCCCTGTATTCAAATGCTCAGGTC (n.681+21_681+22insTTTCCCTGTATTCAAATGCTCAGGTC) c.234+21_234+22insTTTCCCTGTATTCAAATGCTCAGGTC (n.234+21_234+22insTTTCCCTGTATTCAAATGCTCAGGTC) c.4086+21_4086+22insTTTCCCTGTATTCAAATGCTCAGGTC (n.4086+21_4086+22insTTTCCCTGTATTCAAATGCTCAGGTC) n.5609+21_5609+22insTTTCCCTGTATTCAAATGCTCAGGTC | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13841671T>A | CA2673274324 | DNAH5 | c.5484+21A>T (n.5484+21A>T) c.5439+21A>T (n.5439+21A>T) n.5691+21A>T c.5592+21A>T (n.5592+21A>T) c.4497+21A>T (n.4497+21A>T) c.681+21A>T (n.681+21A>T) c.234+21A>T (n.234+21A>T) c.4086+21A>T (n.4086+21A>T) n.5609+21A>T | gnomAD v4 |
| 5 | g.13841672T>C | CA2673274325 | DNAH5 | c.5484+20A>G (n.5484+20A>G) c.5439+20A>G (n.5439+20A>G) n.5691+20A>G c.5592+20A>G (n.5592+20A>G) c.4497+20A>G (n.4497+20A>G) c.681+20A>G (n.681+20A>G) c.234+20A>G (n.234+20A>G) c.4086+20A>G (n.4086+20A>G) n.5609+20A>G | ClinVar gnomAD v4 |
| 5 | g.13841672T>G | CA3203664 | DNAH5 | c.5484+20A>C (n.5484+20A>C) c.5439+20A>C (n.5439+20A>C) n.5691+20A>C c.5592+20A>C (n.5592+20A>C) c.4497+20A>C (n.4497+20A>C) c.681+20A>C (n.681+20A>C) c.234+20A>C (n.234+20A>C) c.4086+20A>C (n.4086+20A>C) n.5609+20A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13841672T= | CA1528458305 | DNAH5 | c.5484+20A= (n.5484+20A=) c.5439+20A= (n.5439+20A=) n.5691+20A= c.5592+20A= (n.5592+20A=) c.4497+20A= (n.4497+20A=) c.681+20A= (n.681+20A=) c.234+20A= (n.234+20A=) c.4086+20A= (n.4086+20A=) n.5609+20A= | |
| 5 | g.13841674A>C | CA2578270624 | DNAH5 | c.5484+18T>G (n.5484+18T>G) c.5439+18T>G (n.5439+18T>G) n.5691+18T>G c.5592+18T>G (n.5592+18T>G) c.4497+18T>G (n.4497+18T>G) c.681+18T>G (n.681+18T>G) c.234+18T>G (n.234+18T>G) c.4086+18T>G (n.4086+18T>G) n.5609+18T>G | |
| 5 | g.13841675A= | CA1528458310 | DNAH5 | c.5484+17T= (n.5484+17T=) c.5439+17T= (n.5439+17T=) n.5691+17T= c.5592+17T= (n.5592+17T=) c.4497+17T= (n.4497+17T=) c.681+17T= (n.681+17T=) c.234+17T= (n.234+17T=) c.4086+17T= (n.4086+17T=) n.5609+17T= | |
| 5 | g.13841675A>G | CA3203665 | DNAH5 | c.5484+17T>C (n.5484+17T>C) c.5439+17T>C (n.5439+17T>C) n.5691+17T>C c.5592+17T>C (n.5592+17T>C) c.4497+17T>C (n.4497+17T>C) c.681+17T>C (n.681+17T>C) c.234+17T>C (n.234+17T>C) c.4086+17T>C (n.4086+17T>C) n.5609+17T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13841678T>G | CA557871653 | DNAH5 | c.5484+14A>C (n.5484+14A>C) c.5439+14A>C (n.5439+14A>C) n.5691+14A>C c.5592+14A>C (n.5592+14A>C) c.4497+14A>C (n.4497+14A>C) c.681+14A>C (n.681+14A>C) c.234+14A>C (n.234+14A>C) c.4086+14A>C (n.4086+14A>C) n.5609+14A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13841678T= | CA1528458315 | DNAH5 | c.5484+14A= (n.5484+14A=) c.5439+14A= (n.5439+14A=) n.5691+14A= c.5592+14A= (n.5592+14A=) c.4497+14A= (n.4497+14A=) c.681+14A= (n.681+14A=) c.234+14A= (n.234+14A=) c.4086+14A= (n.4086+14A=) n.5609+14A= | |
| 5 | g.13841679T>G | CA2673274326 | DNAH5 | c.5484+13A>C (n.5484+13A>C) c.5439+13A>C (n.5439+13A>C) n.5691+13A>C c.5592+13A>C (n.5592+13A>C) c.4497+13A>C (n.4497+13A>C) c.681+13A>C (n.681+13A>C) c.234+13A>C (n.234+13A>C) c.4086+13A>C (n.4086+13A>C) n.5609+13A>C | gnomAD v4 |
| 5 | g.13841680C>A | CA649900838 | DNAH5 | c.5484+12G>T (n.5484+12G>T) c.5439+12G>T (n.5439+12G>T) n.5691+12G>T c.5592+12G>T (n.5592+12G>T) c.4497+12G>T (n.4497+12G>T) c.681+12G>T (n.681+12G>T) c.234+12G>T (n.234+12G>T) c.4086+12G>T (n.4086+12G>T) n.5609+12G>T | COSMIC |
| 5 | g.13841682A= | CA1528458317 | DNAH5 | c.5484+10T= (n.5484+10T=) c.5439+10T= (n.5439+10T=) n.5691+10T= c.5592+10T= (n.5592+10T=) c.4497+10T= (n.4497+10T=) c.681+10T= (n.681+10T=) c.234+10T= (n.234+10T=) c.4086+10T= (n.4086+10T=) n.5609+10T= | |
| 5 | g.13841682A>G | CA3203666 | DNAH5 | c.5484+10T>C (n.5484+10T>C) c.5439+10T>C (n.5439+10T>C) n.5691+10T>C c.5592+10T>C (n.5592+10T>C) c.4497+10T>C (n.4497+10T>C) c.681+10T>C (n.681+10T>C) c.234+10T>C (n.234+10T>C) c.4086+10T>C (n.4086+10T>C) n.5609+10T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13841682A>T | CA2697547062 | DNAH5 | c.5484+10T>A (n.5484+10T>A) c.5439+10T>A (n.5439+10T>A) n.5691+10T>A c.5592+10T>A (n.5592+10T>A) c.4497+10T>A (n.4497+10T>A) c.681+10T>A (n.681+10T>A) c.234+10T>A (n.234+10T>A) c.4086+10T>A (n.4086+10T>A) n.5609+10T>A | ClinVar |
| 5 | g.13841683T>C | CA2673274327 | DNAH5 | c.5484+9A>G (n.5484+9A>G) c.5439+9A>G (n.5439+9A>G) n.5691+9A>G c.5592+9A>G (n.5592+9A>G) c.4497+9A>G (n.4497+9A>G) c.681+9A>G (n.681+9A>G) c.234+9A>G (n.234+9A>G) c.4086+9A>G (n.4086+9A>G) n.5609+9A>G | ClinVar gnomAD v4 |
| 5 | g.13841684A>G | CA2578270625 | DNAH5 | c.5484+8T>C (n.5484+8T>C) c.5439+8T>C (n.5439+8T>C) n.5691+8T>C c.5592+8T>C (n.5592+8T>C) c.4497+8T>C (n.4497+8T>C) c.681+8T>C (n.681+8T>C) c.234+8T>C (n.234+8T>C) c.4086+8T>C (n.4086+8T>C) n.5609+8T>C | |
| 5 | g.13841688T>C | CA3203667 | DNAH5 | c.5484+4A>G (n.5484+4A>G) c.5439+4A>G (n.5439+4A>G) n.5691+4A>G c.5592+4A>G (n.5592+4A>G) c.4497+4A>G (n.4497+4A>G) c.681+4A>G (n.681+4A>G) c.234+4A>G (n.234+4A>G) c.4086+4A>G (n.4086+4A>G) n.5609+4A>G | dbSNP ExAC gnomAD v2 |
| 5 | g.13841688T= | CA1528458319 | DNAH5 | c.5484+4A= (n.5484+4A=) c.5439+4A= (n.5439+4A=) n.5691+4A= c.5592+4A= (n.5592+4A=) c.4497+4A= (n.4497+4A=) c.681+4A= (n.681+4A=) c.234+4A= (n.234+4A=) c.4086+4A= (n.4086+4A=) n.5609+4A= | |
| 5 | g.13841689G>A | CA2673274328 | DNAH5 | c.5484+3C>T (n.5484+3C>T) c.5439+3C>T (n.5439+3C>T) n.5691+3C>T c.5592+3C>T (n.5592+3C>T) c.4497+3C>T (n.4497+3C>T) c.681+3C>T (n.681+3C>T) c.234+3C>T (n.234+3C>T) c.4086+3C>T (n.4086+3C>T) n.5609+3C>T | gnomAD v4 |
| 5 | g.13841689G>T | CA2578270626 | DNAH5 | c.5484+3C>A (n.5484+3C>A) c.5439+3C>A (n.5439+3C>A) n.5691+3C>A c.5592+3C>A (n.5592+3C>A) c.4497+3C>A (n.4497+3C>A) c.681+3C>A (n.681+3C>A) c.234+3C>A (n.234+3C>A) c.4086+3C>A (n.4086+3C>A) n.5609+3C>A | gnomAD v4 |
| 5 | g.13841690A= | CA1528458320 | DNAH5 | c.5484+2T= (n.5484+2T=) c.5439+2T= (n.5439+2T=) n.5691+2T= c.5592+2T= (n.5592+2T=) c.4497+2T= (n.4497+2T=) c.681+2T= (n.681+2T=) c.234+2T= (n.234+2T=) c.4086+2T= (n.4086+2T=) n.5609+2T= | |
| 5 | g.13841690A>C | CA3203668 | DNAH5 | c.5484+2T>G (n.5484+2T>G) c.5439+2T>G (n.5439+2T>G) n.5691+2T>G c.5592+2T>G (n.5592+2T>G) c.4497+2T>G (n.4497+2T>G) c.681+2T>G (n.681+2T>G) c.234+2T>G (n.234+2T>G) c.4086+2T>G (n.4086+2T>G) n.5609+2T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13841690A>G | CA359210593 | DNAH5 | c.5484+2T>C (n.5484+2T>C) c.5439+2T>C (n.5439+2T>C) n.5691+2T>C c.5592+2T>C (n.5592+2T>C) c.4497+2T>C (n.4497+2T>C) c.681+2T>C (n.681+2T>C) c.234+2T>C (n.234+2T>C) c.4086+2T>C (n.4086+2T>C) n.5609+2T>C | |
| 5 | g.13841690A>T | CA359210596 | DNAH5 | c.5484+2T>A (n.5484+2T>A) c.5439+2T>A (n.5439+2T>A) n.5691+2T>A c.5592+2T>A (n.5592+2T>A) c.4497+2T>A (n.4497+2T>A) c.681+2T>A (n.681+2T>A) c.234+2T>A (n.234+2T>A) c.4086+2T>A (n.4086+2T>A) n.5609+2T>A | |
| 5 | g.13841691C>A | CA359210603 | DNAH5 | c.5484+1G>T (n.5484+1G>T) c.5439+1G>T (n.5439+1G>T) n.5691+1G>T c.5592+1G>T (n.5592+1G>T) c.4497+1G>T (n.4497+1G>T) c.681+1G>T (n.681+1G>T) c.234+1G>T (n.234+1G>T) c.4086+1G>T (n.4086+1G>T) n.5609+1G>T | dbSNP |
| 5 | g.13841691C= | CA1528458322 | DNAH5 | c.5484+1G= (n.5484+1G=) c.5439+1G= (n.5439+1G=) n.5691+1G= c.5592+1G= (n.5592+1G=) c.4497+1G= (n.4497+1G=) c.681+1G= (n.681+1G=) c.234+1G= (n.234+1G=) c.4086+1G= (n.4086+1G=) n.5609+1G= | |
| 5 | g.13841691C>G | CA359210605 | DNAH5 | c.5484+1G>C (n.5484+1G>C) c.5439+1G>C (n.5439+1G>C) n.5691+1G>C c.5592+1G>C (n.5592+1G>C) c.4497+1G>C (n.4497+1G>C) c.681+1G>C (n.681+1G>C) c.234+1G>C (n.234+1G>C) c.4086+1G>C (n.4086+1G>C) n.5609+1G>C | gnomAD v4 |
| 5 | g.13841691C>T | CA359210608 | DNAH5 | c.5484+1G>A (n.5484+1G>A) c.5439+1G>A (n.5439+1G>A) n.5691+1G>A c.5592+1G>A (n.5592+1G>A) c.4497+1G>A (n.4497+1G>A) c.681+1G>A (n.681+1G>A) c.234+1G>A (n.234+1G>A) c.4086+1G>A (n.4086+1G>A) n.5609+1G>A | gnomAD v4 |
| 5 | g.13841692C>A | CA359210617 | DNAH5 | c.5484G>T (p.Gln1828His) c.5439G>T (p.Gln1813His) n.5691G>T c.5592G>T (p.Gln1864His) c.4497G>T (p.Gln1499His) c.681G>T (p.Gln227His) c.234G>T (p.Gln78His) c.4086G>T (p.Gln1362His) n.5609G>T | |
| 5 | g.13841692C= | CA1528458324 | DNAH5 | c.5484G= (p.Gln1828=) c.5439G= (p.Gln1813=) n.5691G= c.5592G= (p.Gln1864=) c.4497G= (p.Gln1499=) c.681G= (p.Gln227=) c.234G= (p.Gln78=) c.4086G= (p.Gln1362=) n.5609G= | |
| 5 | g.13841692C>G | CA359210614 | DNAH5 | c.5484G>C (p.Gln1828His) c.5439G>C (p.Gln1813His) n.5691G>C c.5592G>C (p.Gln1864His) c.4497G>C (p.Gln1499His) c.681G>C (p.Gln227His) c.234G>C (p.Gln78His) c.4086G>C (p.Gln1362His) n.5609G>C | |
| 5 | g.13841692C>T | CA3203669 | DNAH5 | c.5484G>A (p.Gln1828=) c.5439G>A (p.Gln1813=) n.5691G>A c.5592G>A (p.Gln1864=) c.4497G>A (p.Gln1499=) c.681G>A (p.Gln227=) c.234G>A (p.Gln78=) c.4086G>A (p.Gln1362=) n.5609G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13841693T>A | CA359210624 | DNAH5 | c.5483A>T (p.Gln1828Leu) c.5438A>T (p.Gln1813Leu) n.5690A>T c.5591A>T (p.Gln1864Leu) c.4496A>T (p.Gln1499Leu) c.680A>T (p.Gln227Leu) c.233A>T (p.Gln78Leu) c.4085A>T (p.Gln1362Leu) n.5608A>T | |
| 5 | g.13841693T>C | CA359210627 | DNAH5 | c.5483A>G (p.Gln1828Arg) c.5438A>G (p.Gln1813Arg) n.5690A>G c.5591A>G (p.Gln1864Arg) c.4496A>G (p.Gln1499Arg) c.680A>G (p.Gln227Arg) c.233A>G (p.Gln78Arg) c.4085A>G (p.Gln1362Arg) n.5608A>G | |
| 5 | g.13841693T>G | CA359210645 | DNAH5 | c.5483A>C (p.Gln1828Pro) c.5438A>C (p.Gln1813Pro) n.5690A>C c.5591A>C (p.Gln1864Pro) c.4496A>C (p.Gln1499Pro) c.680A>C (p.Gln227Pro) c.233A>C (p.Gln78Pro) c.4085A>C (p.Gln1362Pro) n.5608A>C | |
| 5 | g.13841694G>A | CA359210648 | DNAH5 | c.5482C>T (p.Gln1828Ter) c.5437C>T (p.Gln1813Ter) n.5689C>T c.5590C>T (p.Gln1864Ter) c.4495C>T (p.Gln1499Ter) c.679C>T (p.Gln227Ter) c.232C>T (p.Gln78Ter) c.4084C>T (p.Gln1362Ter) n.5607C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13841694G>C | CA359210650 | DNAH5 | c.5482C>G (p.Gln1828Glu) c.5437C>G (p.Gln1813Glu) n.5689C>G c.5590C>G (p.Gln1864Glu) c.4495C>G (p.Gln1499Glu) c.679C>G (p.Gln227Glu) c.232C>G (p.Gln78Glu) c.4084C>G (p.Gln1362Glu) n.5607C>G | |
| 5 | g.13841694G= | CA1528458327 | DNAH5 | c.5482C= (p.Gln1828=) c.5437C= (p.Gln1813=) n.5689C= c.5590C= (p.Gln1864=) c.4495C= (p.Gln1499=) c.679C= (p.Gln227=) c.232C= (p.Gln78=) c.4084C= (p.Gln1362=) n.5607C= | |
| 5 | g.13841694G>T | CA359210651 | DNAH5 | c.5482C>A (p.Gln1828Lys) c.5437C>A (p.Gln1813Lys) n.5689C>A c.5590C>A (p.Gln1864Lys) c.4495C>A (p.Gln1499Lys) c.679C>A (p.Gln227Lys) c.232C>A (p.Gln78Lys) c.4084C>A (p.Gln1362Lys) n.5607C>A | gnomAD v4 |
| 5 | g.13841695A>C | CA443255883 | DNAH5 | c.5481T>G (p.Ala1827=) c.5436T>G (p.Ala1812=) n.5688T>G c.5589T>G (p.Ala1863=) c.4494T>G (p.Ala1498=) c.678T>G (p.Ala226=) c.231T>G (p.Ala77=) c.4083T>G (p.Ala1361=) n.5606T>G | ClinVar |
| 5 | g.13841695A>G | CA443255884 | DNAH5 | c.5481T>C (p.Ala1827=) c.5436T>C (p.Ala1812=) n.5688T>C c.5589T>C (p.Ala1863=) c.4494T>C (p.Ala1498=) c.678T>C (p.Ala226=) c.231T>C (p.Ala77=) c.4083T>C (p.Ala1361=) n.5606T>C | |
| 5 | g.13841695A>T | CA443255886 | DNAH5 | c.5481T>A (p.Ala1827=) c.5436T>A (p.Ala1812=) n.5688T>A c.5589T>A (p.Ala1863=) c.4494T>A (p.Ala1498=) c.678T>A (p.Ala226=) c.231T>A (p.Ala77=) c.4083T>A (p.Ala1361=) n.5606T>A | |
| 5 | g.13841697_13841699del | CA2673274329 | DNAH5 | c.5479_5481del (p.Ala1827del) c.5434_5436del (p.Ala1812del) n.5686_5688del c.5587_5589del (p.Ala1863del) c.4492_4494del (p.Ala1498del) c.676_678del (p.Ala226del) c.229_231del (p.Ala77del) c.4081_4083del (p.Ala1361del) n.5604_5606del | gnomAD v4 |
| 5 | g.13841696G>A | CA359210656 | DNAH5 | c.5480C>T (p.Ala1827Val) c.5435C>T (p.Ala1812Val) n.5687C>T c.5588C>T (p.Ala1863Val) c.4493C>T (p.Ala1498Val) c.677C>T (p.Ala226Val) c.230C>T (p.Ala77Val) c.4082C>T (p.Ala1361Val) n.5605C>T | |
| 5 | g.13841696G>C | CA359210661 | DNAH5 | c.5480C>G (p.Ala1827Gly) c.5435C>G (p.Ala1812Gly) n.5687C>G c.5588C>G (p.Ala1863Gly) c.4493C>G (p.Ala1498Gly) c.677C>G (p.Ala226Gly) c.230C>G (p.Ala77Gly) c.4082C>G (p.Ala1361Gly) n.5605C>G | COSMIC |
| 5 | g.13841696G>T | CA359210659 | DNAH5 | c.5480C>A (p.Ala1827Asp) c.5435C>A (p.Ala1812Asp) n.5687C>A c.5588C>A (p.Ala1863Asp) c.4493C>A (p.Ala1498Asp) c.677C>A (p.Ala226Asp) c.230C>A (p.Ala77Asp) c.4082C>A (p.Ala1361Asp) n.5605C>A | |
| 5 | g.13841697C>A | CA359210665 | DNAH5 | c.5479G>T (p.Ala1827Ser) c.5434G>T (p.Ala1812Ser) n.5686G>T c.5587G>T (p.Ala1863Ser) c.4492G>T (p.Ala1498Ser) c.676G>T (p.Ala226Ser) c.229G>T (p.Ala77Ser) c.4081G>T (p.Ala1361Ser) n.5604G>T | |
| 5 | g.13841697C= | CA1528458329 | DNAH5 | c.5479G= (p.Ala1827=) c.5434G= (p.Ala1812=) n.5686G= c.5587G= (p.Ala1863=) c.4492G= (p.Ala1498=) c.676G= (p.Ala226=) c.229G= (p.Ala77=) c.4081G= (p.Ala1361=) n.5604G= | |
| 5 | g.13841697C>G | CA359210667 | DNAH5 | c.5479G>C (p.Ala1827Pro) c.5434G>C (p.Ala1812Pro) n.5686G>C c.5587G>C (p.Ala1863Pro) c.4492G>C (p.Ala1498Pro) c.676G>C (p.Ala226Pro) c.229G>C (p.Ala77Pro) c.4081G>C (p.Ala1361Pro) n.5604G>C | dbSNP gnomAD v4 |
| 5 | g.13841697C>T | CA359210669 | DNAH5 | c.5479G>A (p.Ala1827Thr) c.5434G>A (p.Ala1812Thr) n.5686G>A c.5587G>A (p.Ala1863Thr) c.4492G>A (p.Ala1498Thr) c.676G>A (p.Ala226Thr) c.229G>A (p.Ala77Thr) c.4081G>A (p.Ala1361Thr) n.5604G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13841698A>C | CA443255894 | DNAH5 | c.5478T>G (p.Pro1826=) c.5433T>G (p.Pro1811=) n.5685T>G c.5586T>G (p.Pro1862=) c.4491T>G (p.Pro1497=) c.675T>G (p.Pro225=) c.228T>G (p.Pro76=) c.4080T>G (p.Pro1360=) n.5603T>G | |
| 5 | g.13841698A>G | CA443255895 | DNAH5 | c.5478T>C (p.Pro1826=) c.5433T>C (p.Pro1811=) n.5685T>C c.5586T>C (p.Pro1862=) c.4491T>C (p.Pro1497=) c.675T>C (p.Pro225=) c.228T>C (p.Pro76=) c.4080T>C (p.Pro1360=) n.5603T>C | gnomAD v4 |
| 5 | g.13841698A>T | CA443255897 | DNAH5 | c.5478T>A (p.Pro1826=) c.5433T>A (p.Pro1811=) n.5685T>A c.5586T>A (p.Pro1862=) c.4491T>A (p.Pro1497=) c.675T>A (p.Pro225=) c.228T>A (p.Pro76=) c.4080T>A (p.Pro1360=) n.5603T>A | |
| 5 | g.13841699G>A | CA359210674 | DNAH5 | c.5477C>T (p.Pro1826Leu) c.5432C>T (p.Pro1811Leu) n.5684C>T c.5585C>T (p.Pro1862Leu) c.4490C>T (p.Pro1497Leu) c.674C>T (p.Pro225Leu) c.227C>T (p.Pro76Leu) c.4079C>T (p.Pro1360Leu) n.5602C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13841699G>C | CA359210678 | DNAH5 | c.5477C>G (p.Pro1826Arg) c.5432C>G (p.Pro1811Arg) n.5684C>G c.5585C>G (p.Pro1862Arg) c.4490C>G (p.Pro1497Arg) c.674C>G (p.Pro225Arg) c.227C>G (p.Pro76Arg) c.4079C>G (p.Pro1360Arg) n.5602C>G | |
| 5 | g.13841699G= | CA1528458332 | DNAH5 | c.5477C= (p.Pro1826=) c.5432C= (p.Pro1811=) n.5684C= c.5585C= (p.Pro1862=) c.4490C= (p.Pro1497=) c.674C= (p.Pro225=) c.227C= (p.Pro76=) c.4079C= (p.Pro1360=) n.5602C= | |
| 5 | g.13841699G>T | CA359210682 | DNAH5 | c.5477C>A (p.Pro1826His) c.5432C>A (p.Pro1811His) n.5684C>A c.5585C>A (p.Pro1862His) c.4490C>A (p.Pro1497His) c.674C>A (p.Pro225His) c.227C>A (p.Pro76His) c.4079C>A (p.Pro1360His) n.5602C>A | |
| 5 | g.13841700G>A | CA359210695 | DNAH5 | c.5476C>T (p.Pro1826Ser) c.5431C>T (p.Pro1811Ser) n.5683C>T c.5584C>T (p.Pro1862Ser) c.4489C>T (p.Pro1497Ser) c.673C>T (p.Pro225Ser) c.226C>T (p.Pro76Ser) c.4078C>T (p.Pro1360Ser) n.5601C>T | gnomAD v4 |
| 5 | g.13841700G>C | CA113947590 | DNAH5 | c.5476C>G (p.Pro1826Ala) c.5431C>G (p.Pro1811Ala) n.5683C>G c.5584C>G (p.Pro1862Ala) c.4489C>G (p.Pro1497Ala) c.673C>G (p.Pro225Ala) c.226C>G (p.Pro76Ala) c.4078C>G (p.Pro1360Ala) n.5601C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13841700G= | CA1528458335 | DNAH5 | c.5476C= (p.Pro1826=) c.5431C= (p.Pro1811=) n.5683C= c.5584C= (p.Pro1862=) c.4489C= (p.Pro1497=) c.673C= (p.Pro225=) c.226C= (p.Pro76=) c.4078C= (p.Pro1360=) n.5601C= | |
| 5 | g.13841700G>T | CA359210697 | DNAH5 | c.5476C>A (p.Pro1826Thr) c.5431C>A (p.Pro1811Thr) n.5683C>A c.5584C>A (p.Pro1862Thr) c.4489C>A (p.Pro1497Thr) c.673C>A (p.Pro225Thr) c.226C>A (p.Pro76Thr) c.4078C>A (p.Pro1360Thr) n.5601C>A | |
| 5 | g.13841701G>A | CA443255906 | DNAH5 | c.5475C>T (p.Phe1825=) c.5430C>T (p.Phe1810=) n.5682C>T c.5583C>T (p.Phe1861=) c.4488C>T (p.Phe1496=) c.672C>T (p.Phe224=) c.225C>T (p.Phe75=) c.4077C>T (p.Phe1359=) n.5600C>T | gnomAD v4 COSMIC |
| 5 | g.13841701G>C | CA359210699 | DNAH5 | c.5475C>G (p.Phe1825Leu) c.5430C>G (p.Phe1810Leu) n.5682C>G c.5583C>G (p.Phe1861Leu) c.4488C>G (p.Phe1496Leu) c.672C>G (p.Phe224Leu) c.225C>G (p.Phe75Leu) c.4077C>G (p.Phe1359Leu) n.5600C>G | |
| 5 | g.13841701G>T | CA359210700 | DNAH5 | c.5475C>A (p.Phe1825Leu) c.5430C>A (p.Phe1810Leu) n.5682C>A c.5583C>A (p.Phe1861Leu) c.4488C>A (p.Phe1496Leu) c.672C>A (p.Phe224Leu) c.225C>A (p.Phe75Leu) c.4077C>A (p.Phe1359Leu) n.5600C>A | |
| 5 | g.13841702A>C | CA359210709 | DNAH5 | c.5474T>G (p.Phe1825Cys) c.5429T>G (p.Phe1810Cys) n.5681T>G c.5582T>G (p.Phe1861Cys) c.4487T>G (p.Phe1496Cys) c.671T>G (p.Phe224Cys) c.224T>G (p.Phe75Cys) c.4076T>G (p.Phe1359Cys) n.5599T>G | |
| 5 | g.13841702A>G | CA359210707 | DNAH5 | c.5474T>C (p.Phe1825Ser) c.5429T>C (p.Phe1810Ser) n.5681T>C c.5582T>C (p.Phe1861Ser) c.4487T>C (p.Phe1496Ser) c.671T>C (p.Phe224Ser) c.224T>C (p.Phe75Ser) c.4076T>C (p.Phe1359Ser) n.5599T>C | |
| 5 | g.13841702A>T | CA359210703 | DNAH5 | c.5474T>A (p.Phe1825Tyr) c.5429T>A (p.Phe1810Tyr) n.5681T>A c.5582T>A (p.Phe1861Tyr) c.4487T>A (p.Phe1496Tyr) c.671T>A (p.Phe224Tyr) c.224T>A (p.Phe75Tyr) c.4076T>A (p.Phe1359Tyr) n.5599T>A | |
| 5 | g.13841703A>C | CA359210716 | DNAH5 | c.5473T>G (p.Phe1825Val) c.5428T>G (p.Phe1810Val) n.5680T>G c.5581T>G (p.Phe1861Val) c.4486T>G (p.Phe1496Val) c.670T>G (p.Phe224Val) c.223T>G (p.Phe75Val) c.4075T>G (p.Phe1359Val) n.5598T>G | |
| 5 | g.13841703A>G | CA359210713 | DNAH5 | c.5473T>C (p.Phe1825Leu) c.5428T>C (p.Phe1810Leu) n.5680T>C c.5581T>C (p.Phe1861Leu) c.4486T>C (p.Phe1496Leu) c.670T>C (p.Phe224Leu) c.223T>C (p.Phe75Leu) c.4075T>C (p.Phe1359Leu) n.5598T>C | |
| 5 | g.13841703A>T | CA359210714 | DNAH5 | c.5473T>A (p.Phe1825Ile) c.5428T>A (p.Phe1810Ile) n.5680T>A c.5581T>A (p.Phe1861Ile) c.4486T>A (p.Phe1496Ile) c.670T>A (p.Phe224Ile) c.223T>A (p.Phe75Ile) c.4075T>A (p.Phe1359Ile) n.5598T>A | |
| 5 | g.13841704G>A | CA3203670 | DNAH5 | c.5472C>T (p.Ser1824=) c.5427C>T (p.Ser1809=) n.5679C>T c.5580C>T (p.Ser1860=) c.4485C>T (p.Ser1495=) c.669C>T (p.Ser223=) c.222C>T (p.Ser74=) c.4074C>T (p.Ser1358=) n.5597C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13841704G>C | CA443255915 | DNAH5 | c.5472C>G (p.Ser1824=) c.5427C>G (p.Ser1809=) n.5679C>G c.5580C>G (p.Ser1860=) c.4485C>G (p.Ser1495=) c.669C>G (p.Ser223=) c.222C>G (p.Ser74=) c.4074C>G (p.Ser1358=) n.5597C>G | |
| 5 | g.13841704G= | CA1528458338 | DNAH5 | c.5472C= (p.Ser1824=) c.5427C= (p.Ser1809=) n.5679C= c.5580C= (p.Ser1860=) c.4485C= (p.Ser1495=) c.669C= (p.Ser223=) c.222C= (p.Ser74=) c.4074C= (p.Ser1358=) n.5597C= | |
| 5 | g.13841704G>T | CA443255917 | DNAH5 | c.5472C>A (p.Ser1824=) c.5427C>A (p.Ser1809=) n.5679C>A c.5580C>A (p.Ser1860=) c.4485C>A (p.Ser1495=) c.669C>A (p.Ser223=) c.222C>A (p.Ser74=) c.4074C>A (p.Ser1358=) n.5597C>A | |
| 5 | g.13841705G>A | CA359210718 | DNAH5 | c.5471C>T (p.Ser1824Phe) c.5426C>T (p.Ser1809Phe) n.5678C>T c.5579C>T (p.Ser1860Phe) c.4484C>T (p.Ser1495Phe) c.668C>T (p.Ser223Phe) c.221C>T (p.Ser74Phe) c.4073C>T (p.Ser1358Phe) n.5596C>T | COSMIC |
| 5 | g.13841705G>C | CA359210720 | DNAH5 | c.5471C>G (p.Ser1824Cys) c.5426C>G (p.Ser1809Cys) n.5678C>G c.5579C>G (p.Ser1860Cys) c.4484C>G (p.Ser1495Cys) c.668C>G (p.Ser223Cys) c.221C>G (p.Ser74Cys) c.4073C>G (p.Ser1358Cys) n.5596C>G | |
| 5 | g.13841705G>T | CA359210722 | DNAH5 | c.5471C>A (p.Ser1824Tyr) c.5426C>A (p.Ser1809Tyr) n.5678C>A c.5579C>A (p.Ser1860Tyr) c.4484C>A (p.Ser1495Tyr) c.668C>A (p.Ser223Tyr) c.221C>A (p.Ser74Tyr) c.4073C>A (p.Ser1358Tyr) n.5596C>A | |
| 5 | g.13841706A>C | CA359210744 | DNAH5 | c.5470T>G (p.Ser1824Ala) c.5425T>G (p.Ser1809Ala) n.5677T>G c.5578T>G (p.Ser1860Ala) c.4483T>G (p.Ser1495Ala) c.667T>G (p.Ser223Ala) c.220T>G (p.Ser74Ala) c.4072T>G (p.Ser1358Ala) n.5595T>G | |
| 5 | g.13841706A>G | CA359210737 | DNAH5 | c.5470T>C (p.Ser1824Pro) c.5425T>C (p.Ser1809Pro) n.5677T>C c.5578T>C (p.Ser1860Pro) c.4483T>C (p.Ser1495Pro) c.667T>C (p.Ser223Pro) c.220T>C (p.Ser74Pro) c.4072T>C (p.Ser1358Pro) n.5595T>C | |
| 5 | g.13841706A>T | CA359210725 | DNAH5 | c.5470T>A (p.Ser1824Thr) c.5425T>A (p.Ser1809Thr) n.5677T>A c.5578T>A (p.Ser1860Thr) c.4483T>A (p.Ser1495Thr) c.667T>A (p.Ser223Thr) c.220T>A (p.Ser74Thr) c.4072T>A (p.Ser1358Thr) n.5595T>A | |
| 5 | g.13841707T>A | CA443255922 | DNAH5 | c.5469A>T (p.Ser1823=) c.5424A>T (p.Ser1808=) n.5676A>T c.5577A>T (p.Ser1859=) c.4482A>T (p.Ser1494=) c.666A>T (p.Ser222=) c.219A>T (p.Ser73=) c.4071A>T (p.Ser1357=) n.5594A>T | |
| 5 | g.13841707T>C | CA443255923 | DNAH5 | c.5469A>G (p.Ser1823=) c.5424A>G (p.Ser1808=) n.5676A>G c.5577A>G (p.Ser1859=) c.4482A>G (p.Ser1494=) c.666A>G (p.Ser222=) c.219A>G (p.Ser73=) c.4071A>G (p.Ser1357=) n.5594A>G | ClinVar |
| 5 | g.13841707T>G | CA443255924 | DNAH5 | c.5469A>C (p.Ser1823=) c.5424A>C (p.Ser1808=) n.5676A>C c.5577A>C (p.Ser1859=) c.4482A>C (p.Ser1494=) c.666A>C (p.Ser222=) c.219A>C (p.Ser73=) c.4071A>C (p.Ser1357=) n.5594A>C | gnomAD v4 |
| 5 | g.13841708G>A | CA359210748 | DNAH5 | c.5468C>T (p.Ser1823Leu) c.5423C>T (p.Ser1808Leu) n.5675C>T c.5576C>T (p.Ser1859Leu) c.4481C>T (p.Ser1494Leu) c.665C>T (p.Ser222Leu) c.218C>T (p.Ser73Leu) c.4070C>T (p.Ser1357Leu) n.5593C>T | |
| 5 | g.13841708G>C | CA359210752 | DNAH5 | c.5468C>G (p.Ser1823Ter) c.5423C>G (p.Ser1808Ter) n.5675C>G c.5576C>G (p.Ser1859Ter) c.4481C>G (p.Ser1494Ter) c.665C>G (p.Ser222Ter) c.218C>G (p.Ser73Ter) c.4070C>G (p.Ser1357Ter) n.5593C>G | |
| 5 | g.13841708G>T | CA359210762 | DNAH5 | c.5468C>A (p.Ser1823Ter) c.5423C>A (p.Ser1808Ter) n.5675C>A c.5576C>A (p.Ser1859Ter) c.4481C>A (p.Ser1494Ter) c.665C>A (p.Ser222Ter) c.218C>A (p.Ser73Ter) c.4070C>A (p.Ser1357Ter) n.5593C>A | |
| 5 | g.13841709A>C | CA359210770 | DNAH5 | c.5467T>G (p.Ser1823Ala) c.5422T>G (p.Ser1808Ala) n.5674T>G c.5575T>G (p.Ser1859Ala) c.4480T>G (p.Ser1494Ala) c.664T>G (p.Ser222Ala) c.217T>G (p.Ser73Ala) c.4069T>G (p.Ser1357Ala) n.5592T>G | |
| 5 | g.13841709A>G | CA359210772 | DNAH5 | c.5467T>C (p.Ser1823Pro) c.5422T>C (p.Ser1808Pro) n.5674T>C c.5575T>C (p.Ser1859Pro) c.4480T>C (p.Ser1494Pro) c.664T>C (p.Ser222Pro) c.217T>C (p.Ser73Pro) c.4069T>C (p.Ser1357Pro) n.5592T>C | |
| 5 | g.13841709A>T | CA359210774 | DNAH5 | c.5467T>A (p.Ser1823Thr) c.5422T>A (p.Ser1808Thr) n.5674T>A c.5575T>A (p.Ser1859Thr) c.4480T>A (p.Ser1494Thr) c.664T>A (p.Ser222Thr) c.217T>A (p.Ser73Thr) c.4069T>A (p.Ser1357Thr) n.5592T>A | |
| 5 | g.13841710A>C | CA443255935 | DNAH5 | c.5466T>G (p.Leu1822=) c.5421T>G (p.Leu1807=) n.5673T>G c.5574T>G (p.Leu1858=) c.4479T>G (p.Leu1493=) c.663T>G (p.Leu221=) c.216T>G (p.Leu72=) c.4068T>G (p.Leu1356=) n.5591T>G | |
| 5 | g.13841710A>G | CA443255936 | DNAH5 | c.5466T>C (p.Leu1822=) c.5421T>C (p.Leu1807=) n.5673T>C c.5574T>C (p.Leu1858=) c.4479T>C (p.Leu1493=) c.663T>C (p.Leu221=) c.216T>C (p.Leu72=) c.4068T>C (p.Leu1356=) n.5591T>C | |
| 5 | g.13841710A>T | CA443255938 | DNAH5 | c.5466T>A (p.Leu1822=) c.5421T>A (p.Leu1807=) n.5673T>A c.5574T>A (p.Leu1858=) c.4479T>A (p.Leu1493=) c.663T>A (p.Leu221=) c.216T>A (p.Leu72=) c.4068T>A (p.Leu1356=) n.5591T>A | |
| 5 | g.13841711A>C | CA359210780 | DNAH5 | c.5465T>G (p.Leu1822Arg) c.5420T>G (p.Leu1807Arg) n.5672T>G c.5573T>G (p.Leu1858Arg) c.4478T>G (p.Leu1493Arg) c.662T>G (p.Leu221Arg) c.215T>G (p.Leu72Arg) c.4067T>G (p.Leu1356Arg) n.5590T>G | |
| 5 | g.13841711A>G | CA359210775 | DNAH5 | c.5465T>C (p.Leu1822Pro) c.5420T>C (p.Leu1807Pro) n.5672T>C c.5573T>C (p.Leu1858Pro) c.4478T>C (p.Leu1493Pro) c.662T>C (p.Leu221Pro) c.215T>C (p.Leu72Pro) c.4067T>C (p.Leu1356Pro) n.5590T>C | gnomAD v4 |
| 5 | g.13841711A>T | CA359210777 | DNAH5 | c.5465T>A (p.Leu1822His) c.5420T>A (p.Leu1807His) n.5672T>A c.5573T>A (p.Leu1858His) c.4478T>A (p.Leu1493His) c.662T>A (p.Leu221His) c.215T>A (p.Leu72His) c.4067T>A (p.Leu1356His) n.5590T>A | |
| 5 | g.13841712G>A | CA359210783 | DNAH5 | c.5464C>T (p.Leu1822Phe) c.5419C>T (p.Leu1807Phe) n.5671C>T c.5572C>T (p.Leu1858Phe) c.4477C>T (p.Leu1493Phe) c.661C>T (p.Leu221Phe) c.214C>T (p.Leu72Phe) c.4066C>T (p.Leu1356Phe) n.5589C>T | |
| 5 | g.13841712G>C | CA359210787 | DNAH5 | c.5464C>G (p.Leu1822Val) c.5419C>G (p.Leu1807Val) n.5671C>G c.5572C>G (p.Leu1858Val) c.4477C>G (p.Leu1493Val) c.661C>G (p.Leu221Val) c.214C>G (p.Leu72Val) c.4066C>G (p.Leu1356Val) n.5589C>G | COSMIC |
| 5 | g.13841712G>T | CA359210791 | DNAH5 | c.5464C>A (p.Leu1822Ile) c.5419C>A (p.Leu1807Ile) n.5671C>A c.5572C>A (p.Leu1858Ile) c.4477C>A (p.Leu1493Ile) c.661C>A (p.Leu221Ile) c.214C>A (p.Leu72Ile) c.4066C>A (p.Leu1356Ile) n.5589C>A | COSMIC |
| 5 | g.13841713A>C | CA359210794 | DNAH5 | c.5463T>G (p.Phe1821Leu) c.5418T>G (p.Phe1806Leu) n.5670T>G c.5571T>G (p.Phe1857Leu) c.4476T>G (p.Phe1492Leu) c.660T>G (p.Phe220Leu) c.213T>G (p.Phe71Leu) c.4065T>G (p.Phe1355Leu) n.5588T>G | |
| 5 | g.13841713A>G | CA443255950 | DNAH5 | c.5463T>C (p.Phe1821=) c.5418T>C (p.Phe1806=) n.5670T>C c.5571T>C (p.Phe1857=) c.4476T>C (p.Phe1492=) c.660T>C (p.Phe220=) c.213T>C (p.Phe71=) c.4065T>C (p.Phe1355=) n.5588T>C | |
| 5 | g.13841713A>T | CA359210796 | DNAH5 | c.5463T>A (p.Phe1821Leu) c.5418T>A (p.Phe1806Leu) n.5670T>A c.5571T>A (p.Phe1857Leu) c.4476T>A (p.Phe1492Leu) c.660T>A (p.Phe220Leu) c.213T>A (p.Phe71Leu) c.4065T>A (p.Phe1355Leu) n.5588T>A | |
| 5 | g.13841714A>C | CA359210807 | DNAH5 | c.5462T>G (p.Phe1821Cys) c.5417T>G (p.Phe1806Cys) n.5669T>G c.5570T>G (p.Phe1857Cys) c.4475T>G (p.Phe1492Cys) c.659T>G (p.Phe220Cys) c.212T>G (p.Phe71Cys) c.4064T>G (p.Phe1355Cys) n.5587T>G | |
| 5 | g.13841714A>G | CA359210810 | DNAH5 | c.5462T>C (p.Phe1821Ser) c.5417T>C (p.Phe1806Ser) n.5669T>C c.5570T>C (p.Phe1857Ser) c.4475T>C (p.Phe1492Ser) c.659T>C (p.Phe220Ser) c.212T>C (p.Phe71Ser) c.4064T>C (p.Phe1355Ser) n.5587T>C | |
| 5 | g.13841714A>T | CA359210812 | DNAH5 | c.5462T>A (p.Phe1821Tyr) c.5417T>A (p.Phe1806Tyr) n.5669T>A c.5570T>A (p.Phe1857Tyr) c.4475T>A (p.Phe1492Tyr) c.659T>A (p.Phe220Tyr) c.212T>A (p.Phe71Tyr) c.4064T>A (p.Phe1355Tyr) n.5587T>A | |
| 5 | g.13841715A>C | CA359210815 | DNAH5 | c.5461T>G (p.Phe1821Val) c.5416T>G (p.Phe1806Val) n.5668T>G c.5569T>G (p.Phe1857Val) c.4474T>G (p.Phe1492Val) c.658T>G (p.Phe220Val) c.211T>G (p.Phe71Val) c.4063T>G (p.Phe1355Val) n.5586T>G | |
| 5 | g.13841715A>G | CA359210819 | DNAH5 | c.5461T>C (p.Phe1821Leu) c.5416T>C (p.Phe1806Leu) n.5668T>C c.5569T>C (p.Phe1857Leu) c.4474T>C (p.Phe1492Leu) c.658T>C (p.Phe220Leu) c.211T>C (p.Phe71Leu) c.4063T>C (p.Phe1355Leu) n.5586T>C | |
| 5 | g.13841715A>T | CA359210822 | DNAH5 | c.5461T>A (p.Phe1821Ile) c.5416T>A (p.Phe1806Ile) n.5668T>A c.5569T>A (p.Phe1857Ile) c.4474T>A (p.Phe1492Ile) c.658T>A (p.Phe220Ile) c.211T>A (p.Phe71Ile) c.4063T>A (p.Phe1355Ile) n.5586T>A | |
| 5 | g.13841716T>A | CA359210825 | DNAH5 | c.5460A>T (p.Glu1820Asp) c.5415A>T (p.Glu1805Asp) n.5667A>T c.5568A>T (p.Glu1856Asp) c.4473A>T (p.Glu1491Asp) c.657A>T (p.Glu219Asp) c.210A>T (p.Glu70Asp) c.4062A>T (p.Glu1354Asp) n.5585A>T | |
| 5 | g.13841716T>C | CA443255953 | DNAH5 | c.5460A>G (p.Glu1820=) c.5415A>G (p.Glu1805=) n.5667A>G c.5568A>G (p.Glu1856=) c.4473A>G (p.Glu1491=) c.657A>G (p.Glu219=) c.210A>G (p.Glu70=) c.4062A>G (p.Glu1354=) n.5585A>G | ClinVar dbSNP |
| 5 | g.13841716T>G | CA359210832 | DNAH5 | c.5460A>C (p.Glu1820Asp) c.5415A>C (p.Glu1805Asp) n.5667A>C c.5568A>C (p.Glu1856Asp) c.4473A>C (p.Glu1491Asp) c.657A>C (p.Glu219Asp) c.210A>C (p.Glu70Asp) c.4062A>C (p.Glu1354Asp) n.5585A>C | |
| 5 | g.13841717T>A | CA359210840 | DNAH5 | c.5459A>T (p.Glu1820Val) c.5414A>T (p.Glu1805Val) n.5666A>T c.5567A>T (p.Glu1856Val) c.4472A>T (p.Glu1491Val) c.656A>T (p.Glu219Val) c.209A>T (p.Glu70Val) c.4061A>T (p.Glu1354Val) n.5584A>T | |
| 5 | g.13841717T>C | CA359210853 | DNAH5 | c.5459A>G (p.Glu1820Gly) c.5414A>G (p.Glu1805Gly) n.5666A>G c.5567A>G (p.Glu1856Gly) c.4472A>G (p.Glu1491Gly) c.656A>G (p.Glu219Gly) c.209A>G (p.Glu70Gly) c.4061A>G (p.Glu1354Gly) n.5584A>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13841717T>G | CA359210846 | DNAH5 | c.5459A>C (p.Glu1820Ala) c.5414A>C (p.Glu1805Ala) n.5666A>C c.5567A>C (p.Glu1856Ala) c.4472A>C (p.Glu1491Ala) c.656A>C (p.Glu219Ala) c.209A>C (p.Glu70Ala) c.4061A>C (p.Glu1354Ala) n.5584A>C | |
| 5 | g.13841717T= | CA1528458340 | DNAH5 | c.5459A= (p.Glu1820=) c.5414A= (p.Glu1805=) n.5666A= c.5567A= (p.Glu1856=) c.4472A= (p.Glu1491=) c.656A= (p.Glu219=) c.209A= (p.Glu70=) c.4061A= (p.Glu1354=) n.5584A= | |
| 5 | g.13841718C>A | CA359210858 | DNAH5 | c.5458G>T (p.Glu1820Ter) c.5413G>T (p.Glu1805Ter) n.5665G>T c.5566G>T (p.Glu1856Ter) c.4471G>T (p.Glu1491Ter) c.655G>T (p.Glu219Ter) c.208G>T (p.Glu70Ter) c.4060G>T (p.Glu1354Ter) n.5583G>T | ClinVar |
| 5 | g.13841718C>G | CA359210859 | DNAH5 | c.5458G>C (p.Glu1820Gln) c.5413G>C (p.Glu1805Gln) n.5665G>C c.5566G>C (p.Glu1856Gln) c.4471G>C (p.Glu1491Gln) c.655G>C (p.Glu219Gln) c.208G>C (p.Glu70Gln) c.4060G>C (p.Glu1354Gln) n.5583G>C | |
| 5 | g.13841718C>T | CA359210860 | DNAH5 | c.5458G>A (p.Glu1820Lys) c.5413G>A (p.Glu1805Lys) n.5665G>A c.5566G>A (p.Glu1856Lys) c.4471G>A (p.Glu1491Lys) c.655G>A (p.Glu219Lys) c.208G>A (p.Glu70Lys) c.4060G>A (p.Glu1354Lys) n.5583G>A | |
| 5 | g.13841719A>C | CA443255957 | DNAH5 | c.5457T>G (p.Thr1819=) c.5412T>G (p.Thr1804=) n.5664T>G c.5565T>G (p.Thr1855=) c.4470T>G (p.Thr1490=) c.654T>G (p.Thr218=) c.207T>G (p.Thr69=) c.4059T>G (p.Thr1353=) n.5582T>G | |
| 5 | g.13841719A>G | CA443255963 | DNAH5 | c.5457T>C (p.Thr1819=) c.5412T>C (p.Thr1804=) n.5664T>C c.5565T>C (p.Thr1855=) c.4470T>C (p.Thr1490=) c.654T>C (p.Thr218=) c.207T>C (p.Thr69=) c.4059T>C (p.Thr1353=) n.5582T>C | |
| 5 | g.13841719A>T | CA443255965 | DNAH5 | c.5457T>A (p.Thr1819=) c.5412T>A (p.Thr1804=) n.5664T>A c.5565T>A (p.Thr1855=) c.4470T>A (p.Thr1490=) c.654T>A (p.Thr218=) c.207T>A (p.Thr69=) c.4059T>A (p.Thr1353=) n.5582T>A | |
| 5 | g.13841720G>A | CA359210861 | DNAH5 | c.5456C>T (p.Thr1819Ile) c.5411C>T (p.Thr1804Ile) n.5663C>T c.5564C>T (p.Thr1855Ile) c.4469C>T (p.Thr1490Ile) c.653C>T (p.Thr218Ile) c.206C>T (p.Thr69Ile) c.4058C>T (p.Thr1353Ile) n.5581C>T | |
| 5 | g.13841720G>C | CA359210866 | DNAH5 | c.5456C>G (p.Thr1819Ser) c.5411C>G (p.Thr1804Ser) n.5663C>G c.5564C>G (p.Thr1855Ser) c.4469C>G (p.Thr1490Ser) c.653C>G (p.Thr218Ser) c.206C>G (p.Thr69Ser) c.4058C>G (p.Thr1353Ser) n.5581C>G | |
| 5 | g.13841720G>T | CA359210872 | DNAH5 | c.5456C>A (p.Thr1819Asn) c.5411C>A (p.Thr1804Asn) n.5663C>A c.5564C>A (p.Thr1855Asn) c.4469C>A (p.Thr1490Asn) c.653C>A (p.Thr218Asn) c.206C>A (p.Thr69Asn) c.4058C>A (p.Thr1353Asn) n.5581C>A | |
| 5 | g.13841721T>A | CA359210886 | DNAH5 | c.5455A>T (p.Thr1819Ser) c.5410A>T (p.Thr1804Ser) n.5662A>T c.5563A>T (p.Thr1855Ser) c.4468A>T (p.Thr1490Ser) c.652A>T (p.Thr218Ser) c.205A>T (p.Thr69Ser) c.4057A>T (p.Thr1353Ser) n.5580A>T | |
| 5 | g.13841721T>C | CA359210876 | DNAH5 | c.5455A>G (p.Thr1819Ala) c.5410A>G (p.Thr1804Ala) n.5662A>G c.5563A>G (p.Thr1855Ala) c.4468A>G (p.Thr1490Ala) c.652A>G (p.Thr218Ala) c.205A>G (p.Thr69Ala) c.4057A>G (p.Thr1353Ala) n.5580A>G | gnomAD v4 |
| 5 | g.13841721T>G | CA359210884 | DNAH5 | c.5455A>C (p.Thr1819Pro) c.5410A>C (p.Thr1804Pro) n.5662A>C c.5563A>C (p.Thr1855Pro) c.4468A>C (p.Thr1490Pro) c.652A>C (p.Thr218Pro) c.205A>C (p.Thr69Pro) c.4057A>C (p.Thr1353Pro) n.5580A>C | |
| 5 | g.13841722del | CA2580072081 | DNAH5 | c.5455del (p.Thr1819LeufsTer14) c.5410del (p.Thr1804LeufsTer14) n.5662del c.5563del (p.Thr1855LeufsTer14) c.4468del (p.Thr1490LeufsTer14) c.652del (p.Thr218LeufsTer14) c.205del (p.Thr69LeufsTer14) c.4057del (p.Thr1353LeufsTer14) n.5580del | ClinVar |
| 5 | g.13841722T>A | CA443255975 | DNAH5 | c.5454A>T (p.Leu1818=) c.5409A>T (p.Leu1803=) n.5661A>T c.5562A>T (p.Leu1854=) c.4467A>T (p.Leu1489=) c.651A>T (p.Leu217=) c.204A>T (p.Leu68=) c.4056A>T (p.Leu1352=) n.5579A>T | |
| 5 | g.13841722T>C | CA443255978 | DNAH5 | c.5454A>G (p.Leu1818=) c.5409A>G (p.Leu1803=) n.5661A>G c.5562A>G (p.Leu1854=) c.4467A>G (p.Leu1489=) c.651A>G (p.Leu217=) c.204A>G (p.Leu68=) c.4056A>G (p.Leu1352=) n.5579A>G | ClinVar dbSNP gnomAD v4 |
| 5 | g.13841722T>G | CA443255980 | DNAH5 | c.5454A>C (p.Leu1818=) c.5409A>C (p.Leu1803=) n.5661A>C c.5562A>C (p.Leu1854=) c.4467A>C (p.Leu1489=) c.651A>C (p.Leu217=) c.204A>C (p.Leu68=) c.4056A>C (p.Leu1352=) n.5579A>C | |
| 5 | g.13841723A>C | CA359210891 | DNAH5 | c.5453T>G (p.Leu1818Arg) c.5408T>G (p.Leu1803Arg) n.5660T>G c.5561T>G (p.Leu1854Arg) c.4466T>G (p.Leu1489Arg) c.650T>G (p.Leu217Arg) c.203T>G (p.Leu68Arg) c.4055T>G (p.Leu1352Arg) n.5578T>G | |
| 5 | g.13841723A>G | CA359210893 | DNAH5 | c.5453T>C (p.Leu1818Pro) c.5408T>C (p.Leu1803Pro) n.5660T>C c.5561T>C (p.Leu1854Pro) c.4466T>C (p.Leu1489Pro) c.650T>C (p.Leu217Pro) c.203T>C (p.Leu68Pro) c.4055T>C (p.Leu1352Pro) n.5578T>C | gnomAD v4 |
| 5 | g.13841723A>T | CA359210899 | DNAH5 | c.5453T>A (p.Leu1818Gln) c.5408T>A (p.Leu1803Gln) n.5660T>A c.5561T>A (p.Leu1854Gln) c.4466T>A (p.Leu1489Gln) c.650T>A (p.Leu217Gln) c.203T>A (p.Leu68Gln) c.4055T>A (p.Leu1352Gln) n.5578T>A | |
| 5 | g.13841724G>A | CA443256001 | DNAH5 | c.5452C>T (p.Leu1818=) c.5407C>T (p.Leu1803=) n.5659C>T c.5560C>T (p.Leu1854=) c.4465C>T (p.Leu1489=) c.649C>T (p.Leu217=) c.202C>T (p.Leu68=) c.4054C>T (p.Leu1352=) n.5577C>T | |
| 5 | g.13841724G>C | CA359210902 | DNAH5 | c.5452C>G (p.Leu1818Val) c.5407C>G (p.Leu1803Val) n.5659C>G c.5560C>G (p.Leu1854Val) c.4465C>G (p.Leu1489Val) c.649C>G (p.Leu217Val) c.202C>G (p.Leu68Val) c.4054C>G (p.Leu1352Val) n.5577C>G | |
| 5 | g.13841724G>T | CA359210906 | DNAH5 | c.5452C>A (p.Leu1818Ile) c.5407C>A (p.Leu1803Ile) n.5659C>A c.5560C>A (p.Leu1854Ile) c.4465C>A (p.Leu1489Ile) c.649C>A (p.Leu217Ile) c.202C>A (p.Leu68Ile) c.4054C>A (p.Leu1352Ile) n.5577C>A | |
| 5 | g.13841725T>A | CA359210913 | DNAH5 | c.5451A>T (p.Gln1817His) c.5406A>T (p.Gln1802His) n.5658A>T c.5559A>T (p.Gln1853His) c.4464A>T (p.Gln1488His) c.648A>T (p.Gln216His) c.201A>T (p.Gln67His) c.4053A>T (p.Gln1351His) n.5576A>T | |
| 5 | g.13841725T>C | CA3203671 | DNAH5 | c.5451A>G (p.Gln1817=) c.5406A>G (p.Gln1802=) n.5658A>G c.5559A>G (p.Gln1853=) c.4464A>G (p.Gln1488=) c.648A>G (p.Gln216=) c.201A>G (p.Gln67=) c.4053A>G (p.Gln1351=) n.5576A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13841725T>G | CA359210918 | DNAH5 | c.5451A>C (p.Gln1817His) c.5406A>C (p.Gln1802His) n.5658A>C c.5559A>C (p.Gln1853His) c.4464A>C (p.Gln1488His) c.648A>C (p.Gln216His) c.201A>C (p.Gln67His) c.4053A>C (p.Gln1351His) n.5576A>C | |
| 5 | g.13841725T= | CA1528458342 | DNAH5 | c.5451A= (p.Gln1817=) c.5406A= (p.Gln1802=) n.5658A= c.5559A= (p.Gln1853=) c.4464A= (p.Gln1488=) c.648A= (p.Gln216=) c.201A= (p.Gln67=) c.4053A= (p.Gln1351=) n.5576A= | |
| 5 | g.13841726T>A | CA359210936 | DNAH5 | c.5450A>T (p.Gln1817Leu) c.5405A>T (p.Gln1802Leu) n.5657A>T c.5558A>T (p.Gln1853Leu) c.4463A>T (p.Gln1488Leu) c.647A>T (p.Gln216Leu) c.200A>T (p.Gln67Leu) c.4052A>T (p.Gln1351Leu) n.5575A>T | |
| 5 | g.13841726T>C | CA3203672 | DNAH5 | c.5450A>G (p.Gln1817Arg) c.5405A>G (p.Gln1802Arg) n.5657A>G c.5558A>G (p.Gln1853Arg) c.4463A>G (p.Gln1488Arg) c.647A>G (p.Gln216Arg) c.200A>G (p.Gln67Arg) c.4052A>G (p.Gln1351Arg) n.5575A>G | dbSNP ExAC gnomAD v2 |
| 5 | g.13841726T>G | CA359210945 | DNAH5 | c.5450A>C (p.Gln1817Pro) c.5405A>C (p.Gln1802Pro) n.5657A>C c.5558A>C (p.Gln1853Pro) c.4463A>C (p.Gln1488Pro) c.647A>C (p.Gln216Pro) c.200A>C (p.Gln67Pro) c.4052A>C (p.Gln1351Pro) n.5575A>C | |
| 5 | g.13841726T= | CA1528458343 | DNAH5 | c.5450A= (p.Gln1817=) c.5405A= (p.Gln1802=) n.5657A= c.5558A= (p.Gln1853=) c.4463A= (p.Gln1488=) c.647A= (p.Gln216=) c.200A= (p.Gln67=) c.4052A= (p.Gln1351=) n.5575A= | |
| 5 | g.13841727G>A | CA359210951 | DNAH5 | c.5449C>T (p.Gln1817Ter) c.5404C>T (p.Gln1802Ter) n.5656C>T c.5557C>T (p.Gln1853Ter) c.4462C>T (p.Gln1488Ter) c.646C>T (p.Gln216Ter) c.199C>T (p.Gln67Ter) c.4051C>T (p.Gln1351Ter) n.5574C>T | |
| 5 | g.13841727G>C | CA359210953 | DNAH5 | c.5449C>G (p.Gln1817Glu) c.5404C>G (p.Gln1802Glu) n.5656C>G c.5557C>G (p.Gln1853Glu) c.4462C>G (p.Gln1488Glu) c.646C>G (p.Gln216Glu) c.199C>G (p.Gln67Glu) c.4051C>G (p.Gln1351Glu) n.5574C>G | |
| 5 | g.13841727G>T | CA359210956 | DNAH5 | c.5449C>A (p.Gln1817Lys) c.5404C>A (p.Gln1802Lys) n.5656C>A c.5557C>A (p.Gln1853Lys) c.4462C>A (p.Gln1488Lys) c.646C>A (p.Gln216Lys) c.199C>A (p.Gln67Lys) c.4051C>A (p.Gln1351Lys) n.5574C>A | |
| 5 | g.13841728G>A | CA443256019 | DNAH5 | c.5448C>T (p.Phe1816=) c.5403C>T (p.Phe1801=) n.5655C>T c.5556C>T (p.Phe1852=) c.4461C>T (p.Phe1487=) c.645C>T (p.Phe215=) c.198C>T (p.Phe66=) c.4050C>T (p.Phe1350=) n.5573C>T | |
| 5 | g.13841728G>C | CA359210957 | DNAH5 | c.5448C>G (p.Phe1816Leu) c.5403C>G (p.Phe1801Leu) n.5655C>G c.5556C>G (p.Phe1852Leu) c.4461C>G (p.Phe1487Leu) c.645C>G (p.Phe215Leu) c.198C>G (p.Phe66Leu) c.4050C>G (p.Phe1350Leu) n.5573C>G | |
| 5 | g.13841728G>T | CA359210958 | DNAH5 | c.5448C>A (p.Phe1816Leu) c.5403C>A (p.Phe1801Leu) n.5655C>A c.5556C>A (p.Phe1852Leu) c.4461C>A (p.Phe1487Leu) c.645C>A (p.Phe215Leu) c.198C>A (p.Phe66Leu) c.4050C>A (p.Phe1350Leu) n.5573C>A | COSMIC |
| 5 | g.13841729A>C | CA359210959 | DNAH5 | c.5447T>G (p.Phe1816Cys) c.5402T>G (p.Phe1801Cys) n.5654T>G c.5555T>G (p.Phe1852Cys) c.4460T>G (p.Phe1487Cys) c.644T>G (p.Phe215Cys) c.197T>G (p.Phe66Cys) c.4049T>G (p.Phe1350Cys) n.5572T>G | |
| 5 | g.13841729A>G | CA359210960 | DNAH5 | c.5447T>C (p.Phe1816Ser) c.5402T>C (p.Phe1801Ser) n.5654T>C c.5555T>C (p.Phe1852Ser) c.4460T>C (p.Phe1487Ser) c.644T>C (p.Phe215Ser) c.197T>C (p.Phe66Ser) c.4049T>C (p.Phe1350Ser) n.5572T>C | |
| 5 | g.13841729A>T | CA359210961 | DNAH5 | c.5447T>A (p.Phe1816Tyr) c.5402T>A (p.Phe1801Tyr) n.5654T>A c.5555T>A (p.Phe1852Tyr) c.4460T>A (p.Phe1487Tyr) c.644T>A (p.Phe215Tyr) c.197T>A (p.Phe66Tyr) c.4049T>A (p.Phe1350Tyr) n.5572T>A | |
| 5 | g.13841730A>C | CA359210963 | DNAH5 | c.5446T>G (p.Phe1816Val) c.5401T>G (p.Phe1801Val) n.5653T>G c.5554T>G (p.Phe1852Val) c.4459T>G (p.Phe1487Val) c.643T>G (p.Phe215Val) c.196T>G (p.Phe66Val) c.4048T>G (p.Phe1350Val) n.5571T>G | |
| 5 | g.13841730A>G | CA359210979 | DNAH5 | c.5446T>C (p.Phe1816Leu) c.5401T>C (p.Phe1801Leu) n.5653T>C c.5554T>C (p.Phe1852Leu) c.4459T>C (p.Phe1487Leu) c.643T>C (p.Phe215Leu) c.196T>C (p.Phe66Leu) c.4048T>C (p.Phe1350Leu) n.5571T>C | |
| 5 | g.13841730A>T | CA359210966 | DNAH5 | c.5446T>A (p.Phe1816Ile) c.5401T>A (p.Phe1801Ile) n.5653T>A c.5554T>A (p.Phe1852Ile) c.4459T>A (p.Phe1487Ile) c.643T>A (p.Phe215Ile) c.196T>A (p.Phe66Ile) c.4048T>A (p.Phe1350Ile) n.5571T>A | |
| 5 | g.13841731A>C | CA443256029 | DNAH5 | c.5445T>G (p.Gly1815=) c.5400T>G (p.Gly1800=) n.5652T>G c.5553T>G (p.Gly1851=) c.4458T>G (p.Gly1486=) c.642T>G (p.Gly214=) c.195T>G (p.Gly65=) c.4047T>G (p.Gly1349=) n.5570T>G | |
| 5 | g.13841731A>G | CA443256031 | DNAH5 | c.5445T>C (p.Gly1815=) c.5400T>C (p.Gly1800=) n.5652T>C c.5553T>C (p.Gly1851=) c.4458T>C (p.Gly1486=) c.642T>C (p.Gly214=) c.195T>C (p.Gly65=) c.4047T>C (p.Gly1349=) n.5570T>C | |
| 5 | g.13841731A>T | CA443256030 | DNAH5 | c.5445T>A (p.Gly1815=) c.5400T>A (p.Gly1800=) n.5652T>A c.5553T>A (p.Gly1851=) c.4458T>A (p.Gly1486=) c.642T>A (p.Gly214=) c.195T>A (p.Gly65=) c.4047T>A (p.Gly1349=) n.5570T>A | |
| 5 | g.13841732C>A | CA359210985 | DNAH5 | c.5444G>T (p.Gly1815Val) c.5399G>T (p.Gly1800Val) n.5651G>T c.5552G>T (p.Gly1851Val) c.4457G>T (p.Gly1486Val) c.641G>T (p.Gly214Val) c.194G>T (p.Gly65Val) c.4046G>T (p.Gly1349Val) n.5569G>T | dbSNP |
| 5 | g.13841732C= | CA1528458344 | DNAH5 | c.5444G= (p.Gly1815=) c.5399G= (p.Gly1800=) n.5651G= c.5552G= (p.Gly1851=) c.4457G= (p.Gly1486=) c.641G= (p.Gly214=) c.194G= (p.Gly65=) c.4046G= (p.Gly1349=) n.5569G= | |
| 5 | g.13841732C>G | CA359210995 | DNAH5 | c.5444G>C (p.Gly1815Ala) c.5399G>C (p.Gly1800Ala) n.5651G>C c.5552G>C (p.Gly1851Ala) c.4457G>C (p.Gly1486Ala) c.641G>C (p.Gly214Ala) c.194G>C (p.Gly65Ala) c.4046G>C (p.Gly1349Ala) n.5569G>C | |
| 5 | g.13841732C>T | CA359210990 | DNAH5 | c.5444G>A (p.Gly1815Asp) c.5399G>A (p.Gly1800Asp) n.5651G>A c.5552G>A (p.Gly1851Asp) c.4457G>A (p.Gly1486Asp) c.641G>A (p.Gly214Asp) c.194G>A (p.Gly65Asp) c.4046G>A (p.Gly1349Asp) n.5569G>A | |
| 5 | g.13841733C>A | CA359210998 | DNAH5 | c.5443G>T (p.Gly1815Cys) c.5398G>T (p.Gly1800Cys) n.5650G>T c.5551G>T (p.Gly1851Cys) c.4456G>T (p.Gly1486Cys) c.640G>T (p.Gly214Cys) c.193G>T (p.Gly65Cys) c.4045G>T (p.Gly1349Cys) n.5568G>T | |
| 5 | g.13841733C= | CA1528458346 | DNAH5 | c.5443G= (p.Gly1815=) c.5398G= (p.Gly1800=) n.5650G= c.5551G= (p.Gly1851=) c.4456G= (p.Gly1486=) c.640G= (p.Gly214=) c.193G= (p.Gly65=) c.4045G= (p.Gly1349=) n.5568G= | |
| 5 | g.13841733C>G | CA359210999 | DNAH5 | c.5443G>C (p.Gly1815Arg) c.5398G>C (p.Gly1800Arg) n.5650G>C c.5551G>C (p.Gly1851Arg) c.4456G>C (p.Gly1486Arg) c.640G>C (p.Gly214Arg) c.193G>C (p.Gly65Arg) c.4045G>C (p.Gly1349Arg) n.5568G>C | |
| 5 | g.13841733C>T | CA359211000 | DNAH5 | c.5443G>A (p.Gly1815Ser) c.5398G>A (p.Gly1800Ser) n.5650G>A c.5551G>A (p.Gly1851Ser) c.4456G>A (p.Gly1486Ser) c.640G>A (p.Gly214Ser) c.193G>A (p.Gly65Ser) c.4045G>A (p.Gly1349Ser) n.5568G>A | |
| 5 | g.13841733_13841734insAGGACATCTTGTACACTGCTAGTAGGACTAAAAA | CA1528458347 | DNAH5 | c.5442_5443insTTTTTAGTCCTACTAGCAGTGTACAAGATGTCCT (p.Gly1815PhefsTer17) c.5397_5398insTTTTTAGTCCTACTAGCAGTGTACAAGATGTCCT (p.Gly1800PhefsTer17) n.5649_5650insTTTTTAGTCCTACTAGCAGTGTACAAGATGTCCT c.5550_5551insTTTTTAGTCCTACTAGCAGTGTACAAGATGTCCT (p.Gly1851PhefsTer17) c.4455_4456insTTTTTAGTCCTACTAGCAGTGTACAAGATGTCCT (p.Gly1486PhefsTer17) c.639_640insTTTTTAGTCCTACTAGCAGTGTACAAGATGTCCT (p.Gly214PhefsTer17) c.192_193insTTTTTAGTCCTACTAGCAGTGTACAAGATGTCCT (p.Gly65PhefsTer17) c.4044_4045insTTTTTAGTCCTACTAGCAGTGTACAAGATGTCCT (p.Gly1349PhefsTer17) n.5567_5568insTTTTTAGTCCTACTAGCAGTGTACAAGATGTCCT | dbSNP |
| 5 | g.13841734T>A | CA443256040 | DNAH5 | c.5442A>T (p.Thr1814=) c.5397A>T (p.Thr1799=) n.5649A>T c.5550A>T (p.Thr1850=) c.4455A>T (p.Thr1485=) c.639A>T (p.Thr213=) c.192A>T (p.Thr64=) c.4044A>T (p.Thr1348=) n.5567A>T | ClinVar |
| 5 | g.13841734T>C | CA443256041 | DNAH5 | c.5442A>G (p.Thr1814=) c.5397A>G (p.Thr1799=) n.5649A>G c.5550A>G (p.Thr1850=) c.4455A>G (p.Thr1485=) c.639A>G (p.Thr213=) c.192A>G (p.Thr64=) c.4044A>G (p.Thr1348=) n.5567A>G | ClinVar |
| 5 | g.13841734T>G | CA443256043 | DNAH5 | c.5442A>C (p.Thr1814=) c.5397A>C (p.Thr1799=) n.5649A>C c.5550A>C (p.Thr1850=) c.4455A>C (p.Thr1485=) c.639A>C (p.Thr213=) c.192A>C (p.Thr64=) c.4044A>C (p.Thr1348=) n.5567A>C | COSMIC |
| 5 | g.13841735G>A | CA359211001 | DNAH5 | c.5441C>T (p.Thr1814Ile) c.5396C>T (p.Thr1799Ile) n.5648C>T c.5549C>T (p.Thr1850Ile) c.4454C>T (p.Thr1485Ile) c.638C>T (p.Thr213Ile) c.191C>T (p.Thr64Ile) c.4043C>T (p.Thr1348Ile) n.5566C>T | |
| 5 | g.13841735G>C | CA359211002 | DNAH5 | c.5441C>G (p.Thr1814Arg) c.5396C>G (p.Thr1799Arg) n.5648C>G c.5549C>G (p.Thr1850Arg) c.4454C>G (p.Thr1485Arg) c.638C>G (p.Thr213Arg) c.191C>G (p.Thr64Arg) c.4043C>G (p.Thr1348Arg) n.5566C>G | |
| 5 | g.13841735G>T | CA359211003 | DNAH5 | c.5441C>A (p.Thr1814Lys) c.5396C>A (p.Thr1799Lys) n.5648C>A c.5549C>A (p.Thr1850Lys) c.4454C>A (p.Thr1485Lys) c.638C>A (p.Thr213Lys) c.191C>A (p.Thr64Lys) c.4043C>A (p.Thr1348Lys) n.5566C>A | |
| 5 | g.13841736T>A | CA359211008 | DNAH5 | c.5440A>T (p.Thr1814Ser) c.5395A>T (p.Thr1799Ser) n.5647A>T c.5548A>T (p.Thr1850Ser) c.4453A>T (p.Thr1485Ser) c.637A>T (p.Thr213Ser) c.190A>T (p.Thr64Ser) c.4042A>T (p.Thr1348Ser) n.5565A>T | |
| 5 | g.13841736T>C | CA3203673 | DNAH5 | c.5440A>G (p.Thr1814Ala) c.5395A>G (p.Thr1799Ala) n.5647A>G c.5548A>G (p.Thr1850Ala) c.4453A>G (p.Thr1485Ala) c.637A>G (p.Thr213Ala) c.190A>G (p.Thr64Ala) c.4042A>G (p.Thr1348Ala) n.5565A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13841736T>G | CA359211011 | DNAH5 | c.5440A>C (p.Thr1814Pro) c.5395A>C (p.Thr1799Pro) n.5647A>C c.5548A>C (p.Thr1850Pro) c.4453A>C (p.Thr1485Pro) c.637A>C (p.Thr213Pro) c.190A>C (p.Thr64Pro) c.4042A>C (p.Thr1348Pro) n.5565A>C | |
| 5 | g.13841736T= | CA1528458348 | DNAH5 | c.5440A= (p.Thr1814=) c.5395A= (p.Thr1799=) n.5647A= c.5548A= (p.Thr1850=) c.4453A= (p.Thr1485=) c.637A= (p.Thr213=) c.190A= (p.Thr64=) c.4042A= (p.Thr1348=) n.5565A= | |
| 5 | g.13841737T>A | CA3203674 | DNAH5 | c.5439A>T (p.Glu1813Asp) c.5394A>T (p.Glu1798Asp) n.5646A>T c.5547A>T (p.Glu1849Asp) c.4452A>T (p.Glu1484Asp) c.636A>T (p.Glu212Asp) c.189A>T (p.Glu63Asp) c.4041A>T (p.Glu1347Asp) n.5564A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13841737T>C | CA443256057 | DNAH5 | c.5439A>G (p.Glu1813=) c.5394A>G (p.Glu1798=) n.5646A>G c.5547A>G (p.Glu1849=) c.4452A>G (p.Glu1484=) c.636A>G (p.Glu212=) c.189A>G (p.Glu63=) c.4041A>G (p.Glu1347=) n.5564A>G | |
| 5 | g.13841737T>G | CA359211013 | DNAH5 | c.5439A>C (p.Glu1813Asp) c.5394A>C (p.Glu1798Asp) n.5646A>C c.5547A>C (p.Glu1849Asp) c.4452A>C (p.Glu1484Asp) c.636A>C (p.Glu212Asp) c.189A>C (p.Glu63Asp) c.4041A>C (p.Glu1347Asp) n.5564A>C | |
| 5 | g.13841737T= | CA1528458350 | DNAH5 | c.5439A= (p.Glu1813=) c.5394A= (p.Glu1798=) n.5646A= c.5547A= (p.Glu1849=) c.4452A= (p.Glu1484=) c.636A= (p.Glu212=) c.189A= (p.Glu63=) c.4041A= (p.Glu1347=) n.5564A= | |
| 5 | g.13841738T>A | CA359211021 | DNAH5 | c.5438A>T (p.Glu1813Val) c.5393A>T (p.Glu1798Val) n.5645A>T c.5546A>T (p.Glu1849Val) c.4451A>T (p.Glu1484Val) c.635A>T (p.Glu212Val) c.188A>T (p.Glu63Val) c.4040A>T (p.Glu1347Val) n.5563A>T | |
| 5 | g.13841738T>C | CA3203675 | DNAH5 | c.5438A>G (p.Glu1813Gly) c.5393A>G (p.Glu1798Gly) n.5645A>G c.5546A>G (p.Glu1849Gly) c.4451A>G (p.Glu1484Gly) c.635A>G (p.Glu212Gly) c.188A>G (p.Glu63Gly) c.4040A>G (p.Glu1347Gly) n.5563A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13841738T>G | CA359211017 | DNAH5 | c.5438A>C (p.Glu1813Ala) c.5393A>C (p.Glu1798Ala) n.5645A>C c.5546A>C (p.Glu1849Ala) c.4451A>C (p.Glu1484Ala) c.635A>C (p.Glu212Ala) c.188A>C (p.Glu63Ala) c.4040A>C (p.Glu1347Ala) n.5563A>C | |
| 5 | g.13841738T= | CA1528458351 | DNAH5 | c.5438A= (p.Glu1813=) c.5393A= (p.Glu1798=) n.5645A= c.5546A= (p.Glu1849=) c.4451A= (p.Glu1484=) c.635A= (p.Glu212=) c.188A= (p.Glu63=) c.4040A= (p.Glu1347=) n.5563A= | |
| 5 | g.13841739C>A | CA359211024 | DNAH5 | c.5437G>T (p.Glu1813Ter) c.5392G>T (p.Glu1798Ter) n.5644G>T c.5545G>T (p.Glu1849Ter) c.4450G>T (p.Glu1484Ter) c.634G>T (p.Glu212Ter) c.187G>T (p.Glu63Ter) c.4039G>T (p.Glu1347Ter) n.5562G>T | COSMIC |
| 5 | g.13841739C= | CA1528458353 | DNAH5 | c.5437G= (p.Glu1813=) c.5392G= (p.Glu1798=) n.5644G= c.5545G= (p.Glu1849=) c.4450G= (p.Glu1484=) c.634G= (p.Glu212=) c.187G= (p.Glu63=) c.4039G= (p.Glu1347=) n.5562G= | |
| 5 | g.13841739C>G | CA3203676 | DNAH5 | c.5437G>C (p.Glu1813Gln) c.5392G>C (p.Glu1798Gln) n.5644G>C c.5545G>C (p.Glu1849Gln) c.4450G>C (p.Glu1484Gln) c.634G>C (p.Glu212Gln) c.187G>C (p.Glu63Gln) c.4039G>C (p.Glu1347Gln) n.5562G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13841739C>T | CA359211035 | DNAH5 | c.5437G>A (p.Glu1813Lys) c.5392G>A (p.Glu1798Lys) n.5644G>A c.5545G>A (p.Glu1849Lys) c.4450G>A (p.Glu1484Lys) c.634G>A (p.Glu212Lys) c.187G>A (p.Glu63Lys) c.4039G>A (p.Glu1347Lys) n.5562G>A | |
| 5 | g.13841740T>A | CA359211040 | DNAH5 | c.5436A>T (p.Gln1812His) c.5391A>T (p.Gln1797His) n.5643A>T c.5544A>T (p.Gln1848His) c.4449A>T (p.Gln1483His) c.633A>T (p.Gln211His) c.186A>T (p.Gln62His) c.4038A>T (p.Gln1346His) n.5561A>T | |
| 5 | g.13841740T>C | CA3203677 | DNAH5 | c.5436A>G (p.Gln1812=) c.5391A>G (p.Gln1797=) n.5643A>G c.5544A>G (p.Gln1848=) c.4449A>G (p.Gln1483=) c.633A>G (p.Gln211=) c.186A>G (p.Gln62=) c.4038A>G (p.Gln1346=) n.5561A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13841740T>G | CA359211045 | DNAH5 | c.5436A>C (p.Gln1812His) c.5391A>C (p.Gln1797His) n.5643A>C c.5544A>C (p.Gln1848His) c.4449A>C (p.Gln1483His) c.633A>C (p.Gln211His) c.186A>C (p.Gln62His) c.4038A>C (p.Gln1346His) n.5561A>C | |
| 5 | g.13841740T= | CA1528458354 | DNAH5 | c.5436A= (p.Gln1812=) c.5391A= (p.Gln1797=) n.5643A= c.5544A= (p.Gln1848=) c.4449A= (p.Gln1483=) c.633A= (p.Gln211=) c.186A= (p.Gln62=) c.4038A= (p.Gln1346=) n.5561A= | |
| 5 | g.13841741T>A | CA359211052 | DNAH5 | c.5435A>T (p.Gln1812Leu) c.5390A>T (p.Gln1797Leu) n.5642A>T c.5543A>T (p.Gln1848Leu) c.4448A>T (p.Gln1483Leu) c.632A>T (p.Gln211Leu) c.185A>T (p.Gln62Leu) c.4037A>T (p.Gln1346Leu) n.5560A>T | |
| 5 | g.13841741T>C | CA359211055 | DNAH5 | c.5435A>G (p.Gln1812Arg) c.5390A>G (p.Gln1797Arg) n.5642A>G c.5543A>G (p.Gln1848Arg) c.4448A>G (p.Gln1483Arg) c.632A>G (p.Gln211Arg) c.185A>G (p.Gln62Arg) c.4037A>G (p.Gln1346Arg) n.5560A>G | |
| 5 | g.13841741T>G | CA359211063 | DNAH5 | c.5435A>C (p.Gln1812Pro) c.5390A>C (p.Gln1797Pro) n.5642A>C c.5543A>C (p.Gln1848Pro) c.4448A>C (p.Gln1483Pro) c.632A>C (p.Gln211Pro) c.185A>C (p.Gln62Pro) c.4037A>C (p.Gln1346Pro) n.5560A>C | |
| 5 | g.13841742del | CA2499217615 | DNAH5 | c.5434del (p.Gln1812LysfsTer7) c.5389del (p.Gln1797LysfsTer7) n.5641del c.5542del (p.Gln1848LysfsTer7) c.4447del (p.Gln1483LysfsTer7) c.631del (p.Gln211LysfsTer7) c.184del (p.Gln62LysfsTer7) c.4036del (p.Gln1346LysfsTer7) n.5559del | ClinVar dbSNP |
| 5 | g.13841742G>A | CA359211087 | DNAH5 | c.5434C>T (p.Gln1812Ter) c.5389C>T (p.Gln1797Ter) n.5641C>T c.5542C>T (p.Gln1848Ter) c.4447C>T (p.Gln1483Ter) c.631C>T (p.Gln211Ter) c.184C>T (p.Gln62Ter) c.4036C>T (p.Gln1346Ter) n.5559C>T | COSMIC |
| 5 | g.13841742G>C | CA359211099 | DNAH5 | c.5434C>G (p.Gln1812Glu) c.5389C>G (p.Gln1797Glu) n.5641C>G c.5542C>G (p.Gln1848Glu) c.4447C>G (p.Gln1483Glu) c.631C>G (p.Gln211Glu) c.184C>G (p.Gln62Glu) c.4036C>G (p.Gln1346Glu) n.5559C>G | gnomAD v4 |
| 5 | g.13841742G>T | CA359211103 | DNAH5 | c.5434C>A (p.Gln1812Lys) c.5389C>A (p.Gln1797Lys) n.5641C>A c.5542C>A (p.Gln1848Lys) c.4447C>A (p.Gln1483Lys) c.631C>A (p.Gln211Lys) c.184C>A (p.Gln62Lys) c.4036C>A (p.Gln1346Lys) n.5559C>A | |
| 5 | g.13841743A>C | CA359211107 | DNAH5 | c.5433T>G (p.Ile1811Met) c.5388T>G (p.Ile1796Met) n.5640T>G c.5541T>G (p.Ile1847Met) c.4446T>G (p.Ile1482Met) c.630T>G (p.Ile210Met) c.183T>G (p.Ile61Met) c.4035T>G (p.Ile1345Met) n.5558T>G | |
| 5 | g.13841743A>G | CA443256074 | DNAH5 | c.5433T>C (p.Ile1811=) c.5388T>C (p.Ile1796=) n.5640T>C c.5541T>C (p.Ile1847=) c.4446T>C (p.Ile1482=) c.630T>C (p.Ile210=) c.183T>C (p.Ile61=) c.4035T>C (p.Ile1345=) n.5558T>C | |
| 5 | g.13841743A>T | CA443256076 | DNAH5 | c.5433T>A (p.Ile1811=) c.5388T>A (p.Ile1796=) n.5640T>A c.5541T>A (p.Ile1847=) c.4446T>A (p.Ile1482=) c.630T>A (p.Ile210=) c.183T>A (p.Ile61=) c.4035T>A (p.Ile1345=) n.5558T>A | |
| 5 | g.13841744A>C | CA359211112 | DNAH5 | c.5432T>G (p.Ile1811Ser) c.5387T>G (p.Ile1796Ser) n.5639T>G c.5540T>G (p.Ile1847Ser) c.4445T>G (p.Ile1482Ser) c.629T>G (p.Ile210Ser) c.182T>G (p.Ile61Ser) c.4034T>G (p.Ile1345Ser) n.5557T>G | |
| 5 | g.13841744A>G | CA359211110 | DNAH5 | c.5432T>C (p.Ile1811Thr) c.5387T>C (p.Ile1796Thr) n.5639T>C c.5540T>C (p.Ile1847Thr) c.4445T>C (p.Ile1482Thr) c.629T>C (p.Ile210Thr) c.182T>C (p.Ile61Thr) c.4034T>C (p.Ile1345Thr) n.5557T>C | |
| 5 | g.13841744A>T | CA359211111 | DNAH5 | c.5432T>A (p.Ile1811Asn) c.5387T>A (p.Ile1796Asn) n.5639T>A c.5540T>A (p.Ile1847Asn) c.4445T>A (p.Ile1482Asn) c.629T>A (p.Ile210Asn) c.182T>A (p.Ile61Asn) c.4034T>A (p.Ile1345Asn) n.5557T>A | |
| 5 | g.13841745T>A | CA359211118 | DNAH5 | c.5431A>T (p.Ile1811Phe) c.5386A>T (p.Ile1796Phe) n.5638A>T c.5539A>T (p.Ile1847Phe) c.4444A>T (p.Ile1482Phe) c.628A>T (p.Ile210Phe) c.181A>T (p.Ile61Phe) c.4033A>T (p.Ile1345Phe) n.5556A>T | |
| 5 | g.13841745T>C | CA359211124 | DNAH5 | c.5431A>G (p.Ile1811Val) c.5386A>G (p.Ile1796Val) n.5638A>G c.5539A>G (p.Ile1847Val) c.4444A>G (p.Ile1482Val) c.628A>G (p.Ile210Val) c.181A>G (p.Ile61Val) c.4033A>G (p.Ile1345Val) n.5556A>G | |
| 5 | g.13841745T>G | CA359211127 | DNAH5 | c.5431A>C (p.Ile1811Leu) c.5386A>C (p.Ile1796Leu) n.5638A>C c.5539A>C (p.Ile1847Leu) c.4444A>C (p.Ile1482Leu) c.628A>C (p.Ile210Leu) c.181A>C (p.Ile61Leu) c.4033A>C (p.Ile1345Leu) n.5556A>C | |
| 5 | g.13841746A>C | CA359211134 | DNAH5 | c.5430T>G (p.Asn1810Lys) c.5385T>G (p.Asn1795Lys) n.5637T>G c.5538T>G (p.Asn1846Lys) c.4443T>G (p.Asn1481Lys) c.627T>G (p.Asn209Lys) c.180T>G (p.Asn60Lys) c.4032T>G (p.Asn1344Lys) n.5555T>G | |
| 5 | g.13841746A>G | CA443256084 | DNAH5 | c.5430T>C (p.Asn1810=) c.5385T>C (p.Asn1795=) n.5637T>C c.5538T>C (p.Asn1846=) c.4443T>C (p.Asn1481=) c.627T>C (p.Asn209=) c.180T>C (p.Asn60=) c.4032T>C (p.Asn1344=) n.5555T>C | |
| 5 | g.13841746A>T | CA359211137 | DNAH5 | c.5430T>A (p.Asn1810Lys) c.5385T>A (p.Asn1795Lys) n.5637T>A c.5538T>A (p.Asn1846Lys) c.4443T>A (p.Asn1481Lys) c.627T>A (p.Asn209Lys) c.180T>A (p.Asn60Lys) c.4032T>A (p.Asn1344Lys) n.5555T>A | |
| 5 | g.13841747T>A | CA359211142 | DNAH5 | c.5429A>T (p.Asn1810Ile) c.5384A>T (p.Asn1795Ile) n.5636A>T c.5537A>T (p.Asn1846Ile) c.4442A>T (p.Asn1481Ile) c.626A>T (p.Asn209Ile) c.179A>T (p.Asn60Ile) c.4031A>T (p.Asn1344Ile) n.5554A>T | |
| 5 | g.13841747T>C | CA359211149 | DNAH5 | c.5429A>G (p.Asn1810Ser) c.5384A>G (p.Asn1795Ser) n.5636A>G c.5537A>G (p.Asn1846Ser) c.4442A>G (p.Asn1481Ser) c.626A>G (p.Asn209Ser) c.179A>G (p.Asn60Ser) c.4031A>G (p.Asn1344Ser) n.5554A>G | gnomAD v4 |
| 5 | g.13841747T>G | CA359211152 | DNAH5 | c.5429A>C (p.Asn1810Thr) c.5384A>C (p.Asn1795Thr) n.5636A>C c.5537A>C (p.Asn1846Thr) c.4442A>C (p.Asn1481Thr) c.626A>C (p.Asn209Thr) c.179A>C (p.Asn60Thr) c.4031A>C (p.Asn1344Thr) n.5554A>C | |
| 5 | g.13841748T>A | CA359211173 | DNAH5 | c.5428A>T (p.Asn1810Tyr) c.5383A>T (p.Asn1795Tyr) n.5635A>T c.5536A>T (p.Asn1846Tyr) c.4441A>T (p.Asn1481Tyr) c.625A>T (p.Asn209Tyr) c.178A>T (p.Asn60Tyr) c.4030A>T (p.Asn1344Tyr) n.5553A>T | |
| 5 | g.13841748T>C | CA359211188 | DNAH5 | c.5428A>G (p.Asn1810Asp) c.5383A>G (p.Asn1795Asp) n.5635A>G c.5536A>G (p.Asn1846Asp) c.4441A>G (p.Asn1481Asp) c.625A>G (p.Asn209Asp) c.178A>G (p.Asn60Asp) c.4030A>G (p.Asn1344Asp) n.5553A>G | |
| 5 | g.13841748T>G | CA359211189 | DNAH5 | c.5428A>C (p.Asn1810His) c.5383A>C (p.Asn1795His) n.5635A>C c.5536A>C (p.Asn1846His) c.4441A>C (p.Asn1481His) c.625A>C (p.Asn209His) c.178A>C (p.Asn60His) c.4030A>C (p.Asn1344His) n.5553A>C | |
| 5 | g.13841749T>A | CA443256091 | DNAH5 | c.5427A>T (p.Ala1809=) c.5382A>T (p.Ala1794=) n.5634A>T c.5535A>T (p.Ala1845=) c.4440A>T (p.Ala1480=) c.624A>T (p.Ala208=) c.177A>T (p.Ala59=) c.4029A>T (p.Ala1343=) n.5552A>T | |
| 5 | g.13841749T>C | CA443256092 | DNAH5 | c.5427A>G (p.Ala1809=) c.5382A>G (p.Ala1794=) n.5634A>G c.5535A>G (p.Ala1845=) c.4440A>G (p.Ala1480=) c.624A>G (p.Ala208=) c.177A>G (p.Ala59=) c.4029A>G (p.Ala1343=) n.5552A>G | |
| 5 | g.13841749T>G | CA443256095 | DNAH5 | c.5427A>C (p.Ala1809=) c.5382A>C (p.Ala1794=) n.5634A>C c.5535A>C (p.Ala1845=) c.4440A>C (p.Ala1480=) c.624A>C (p.Ala208=) c.177A>C (p.Ala59=) c.4029A>C (p.Ala1343=) n.5552A>C | |
| 5 | g.13841750G>A | CA359211208 | DNAH5 | c.5426C>T (p.Ala1809Val) c.5381C>T (p.Ala1794Val) n.5633C>T c.5534C>T (p.Ala1845Val) c.4439C>T (p.Ala1480Val) c.623C>T (p.Ala208Val) c.176C>T (p.Ala59Val) c.4028C>T (p.Ala1343Val) n.5551C>T | |
| 5 | g.13841750G>C | CA359211192 | DNAH5 | c.5426C>G (p.Ala1809Gly) c.5381C>G (p.Ala1794Gly) n.5633C>G c.5534C>G (p.Ala1845Gly) c.4439C>G (p.Ala1480Gly) c.623C>G (p.Ala208Gly) c.176C>G (p.Ala59Gly) c.4028C>G (p.Ala1343Gly) n.5551C>G | |
| 5 | g.13841750G>T | CA359211194 | DNAH5 | c.5426C>A (p.Ala1809Glu) c.5381C>A (p.Ala1794Glu) n.5633C>A c.5534C>A (p.Ala1845Glu) c.4439C>A (p.Ala1480Glu) c.623C>A (p.Ala208Glu) c.176C>A (p.Ala59Glu) c.4028C>A (p.Ala1343Glu) n.5551C>A | |
| 5 | g.13841751C>A | CA359211216 | DNAH5 | c.5425G>T (p.Ala1809Ser) c.5380G>T (p.Ala1794Ser) n.5632G>T c.5533G>T (p.Ala1845Ser) c.4438G>T (p.Ala1480Ser) c.622G>T (p.Ala208Ser) c.175G>T (p.Ala59Ser) c.4027G>T (p.Ala1343Ser) n.5550G>T | dbSNP gnomAD v4 |
| 5 | g.13841751C= | CA1528458356 | DNAH5 | c.5425G= (p.Ala1809=) c.5380G= (p.Ala1794=) n.5632G= c.5533G= (p.Ala1845=) c.4438G= (p.Ala1480=) c.622G= (p.Ala208=) c.175G= (p.Ala59=) c.4027G= (p.Ala1343=) n.5550G= | |
| 5 | g.13841751C>G | CA359211220 | DNAH5 | c.5425G>C (p.Ala1809Pro) c.5380G>C (p.Ala1794Pro) n.5632G>C c.5533G>C (p.Ala1845Pro) c.4438G>C (p.Ala1480Pro) c.622G>C (p.Ala208Pro) c.175G>C (p.Ala59Pro) c.4027G>C (p.Ala1343Pro) n.5550G>C | |
| 5 | g.13841751C>T | CA3203678 | DNAH5 | c.5425G>A (p.Ala1809Thr) c.5380G>A (p.Ala1794Thr) n.5632G>A c.5533G>A (p.Ala1845Thr) c.4438G>A (p.Ala1480Thr) c.622G>A (p.Ala208Thr) c.175G>A (p.Ala59Thr) c.4027G>A (p.Ala1343Thr) n.5550G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13841752G>A | CA113947651 | DNAH5 | c.5424C>T (p.Ala1808=) c.5379C>T (p.Ala1793=) n.5631C>T c.5532C>T (p.Ala1844=) c.4437C>T (p.Ala1479=) c.621C>T (p.Ala207=) c.174C>T (p.Ala58=) c.4026C>T (p.Ala1342=) n.5549C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13841752G>C | CA443256099 | DNAH5 | c.5424C>G (p.Ala1808=) c.5379C>G (p.Ala1793=) n.5631C>G c.5532C>G (p.Ala1844=) c.4437C>G (p.Ala1479=) c.621C>G (p.Ala207=) c.174C>G (p.Ala58=) c.4026C>G (p.Ala1342=) n.5549C>G | dbSNP |
| 5 | g.13841752G= | CA1528458358 | DNAH5 | c.5424C= (p.Ala1808=) c.5379C= (p.Ala1793=) n.5631C= c.5532C= (p.Ala1844=) c.4437C= (p.Ala1479=) c.621C= (p.Ala207=) c.174C= (p.Ala58=) c.4026C= (p.Ala1342=) n.5549C= | |
| 5 | g.13841752G>T | CA443256098 | DNAH5 | c.5424C>A (p.Ala1808=) c.5379C>A (p.Ala1793=) n.5631C>A c.5532C>A (p.Ala1844=) c.4437C>A (p.Ala1479=) c.621C>A (p.Ala207=) c.174C>A (p.Ala58=) c.4026C>A (p.Ala1342=) n.5549C>A | |
| 5 | g.13841753del | CA2697547063 | DNAH5 | c.5424del (p.Ala1809GlnfsTer10) c.5379del (p.Ala1794GlnfsTer10) n.5631del c.5532del (p.Ala1845GlnfsTer10) c.4437del (p.Ala1480GlnfsTer10) c.621del (p.Ala208GlnfsTer10) c.174del (p.Ala59GlnfsTer10) c.4026del (p.Ala1343GlnfsTer10) n.5549del | ClinVar |
| 5 | g.13841753G>A | CA359211236 | DNAH5 | c.5423C>T (p.Ala1808Val) c.5378C>T (p.Ala1793Val) n.5630C>T c.5531C>T (p.Ala1844Val) c.4436C>T (p.Ala1479Val) c.620C>T (p.Ala207Val) c.173C>T (p.Ala58Val) c.4025C>T (p.Ala1342Val) n.5548C>T | |
| 5 | g.13841753G>C | CA359211239 | DNAH5 | c.5423C>G (p.Ala1808Gly) c.5378C>G (p.Ala1793Gly) n.5630C>G c.5531C>G (p.Ala1844Gly) c.4436C>G (p.Ala1479Gly) c.620C>G (p.Ala207Gly) c.173C>G (p.Ala58Gly) c.4025C>G (p.Ala1342Gly) n.5548C>G | |
| 5 | g.13841753G>T | CA359211241 | DNAH5 | c.5423C>A (p.Ala1808Asp) c.5378C>A (p.Ala1793Asp) n.5630C>A c.5531C>A (p.Ala1844Asp) c.4436C>A (p.Ala1479Asp) c.620C>A (p.Ala207Asp) c.173C>A (p.Ala58Asp) c.4025C>A (p.Ala1342Asp) n.5548C>A | |
| 5 | g.13841754C>A | CA359211244 | DNAH5 | c.5422G>T (p.Ala1808Ser) c.5377G>T (p.Ala1793Ser) n.5629G>T c.5530G>T (p.Ala1844Ser) c.4435G>T (p.Ala1479Ser) c.619G>T (p.Ala207Ser) c.172G>T (p.Ala58Ser) c.4024G>T (p.Ala1342Ser) n.5547G>T | |
| 5 | g.13841754C>G | CA359211246 | DNAH5 | c.5422G>C (p.Ala1808Pro) c.5377G>C (p.Ala1793Pro) n.5629G>C c.5530G>C (p.Ala1844Pro) c.4435G>C (p.Ala1479Pro) c.619G>C (p.Ala207Pro) c.172G>C (p.Ala58Pro) c.4024G>C (p.Ala1342Pro) n.5547G>C | |
| 5 | g.13841754C>T | CA359211249 | DNAH5 | c.5422G>A (p.Ala1808Thr) c.5377G>A (p.Ala1793Thr) n.5629G>A c.5530G>A (p.Ala1844Thr) c.4435G>A (p.Ala1479Thr) c.619G>A (p.Ala207Thr) c.172G>A (p.Ala58Thr) c.4024G>A (p.Ala1342Thr) n.5547G>A | |
| 5 | g.13841755T>A | CA443256104 | DNAH5 | c.5421A>T (p.Ala1807=) c.5376A>T (p.Ala1792=) n.5628A>T c.5529A>T (p.Ala1843=) c.4434A>T (p.Ala1478=) c.618A>T (p.Ala206=) c.171A>T (p.Ala57=) c.4023A>T (p.Ala1341=) n.5546A>T | |
| 5 | g.13841755T>C | CA443256109 | DNAH5 | c.5421A>G (p.Ala1807=) c.5376A>G (p.Ala1792=) n.5628A>G c.5529A>G (p.Ala1843=) c.4434A>G (p.Ala1478=) c.618A>G (p.Ala206=) c.171A>G (p.Ala57=) c.4023A>G (p.Ala1341=) n.5546A>G | |
| 5 | g.13841755T>G | CA443256110 | DNAH5 | c.5421A>C (p.Ala1807=) c.5376A>C (p.Ala1792=) n.5628A>C c.5529A>C (p.Ala1843=) c.4434A>C (p.Ala1478=) c.618A>C (p.Ala206=) c.171A>C (p.Ala57=) c.4023A>C (p.Ala1341=) n.5546A>C | dbSNP |
| 5 | g.13841755T= | CA1528458360 | DNAH5 | c.5421A= (p.Ala1807=) c.5376A= (p.Ala1792=) n.5628A= c.5529A= (p.Ala1843=) c.4434A= (p.Ala1478=) c.618A= (p.Ala206=) c.171A= (p.Ala57=) c.4023A= (p.Ala1341=) n.5546A= | |
| 5 | g.13841756G>A | CA3203680 | DNAH5 | c.5420C>T (p.Ala1807Val) c.5375C>T (p.Ala1792Val) n.5627C>T c.5528C>T (p.Ala1843Val) c.4433C>T (p.Ala1478Val) c.617C>T (p.Ala206Val) c.170C>T (p.Ala57Val) c.4022C>T (p.Ala1341Val) n.5545C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13841756G>C | CA359211252 | DNAH5 | c.5420C>G (p.Ala1807Gly) c.5375C>G (p.Ala1792Gly) n.5627C>G c.5528C>G (p.Ala1843Gly) c.4433C>G (p.Ala1478Gly) c.617C>G (p.Ala206Gly) c.170C>G (p.Ala57Gly) c.4022C>G (p.Ala1341Gly) n.5545C>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13841756G= | CA1528458362 | DNAH5 | c.5420C= (p.Ala1807=) c.5375C= (p.Ala1792=) n.5627C= c.5528C= (p.Ala1843=) c.4433C= (p.Ala1478=) c.617C= (p.Ala206=) c.170C= (p.Ala57=) c.4022C= (p.Ala1341=) n.5545C= | |
| 5 | g.13841756G>T | CA3203679 | DNAH5 | c.5420C>A (p.Ala1807Glu) c.5375C>A (p.Ala1792Glu) n.5627C>A c.5528C>A (p.Ala1843Glu) c.4433C>A (p.Ala1478Glu) c.617C>A (p.Ala206Glu) c.170C>A (p.Ala57Glu) c.4022C>A (p.Ala1341Glu) n.5545C>A | dbSNP ExAC gnomAD v2 |
| 5 | g.13841757C>A | CA359211257 | DNAH5 | c.5419G>T (p.Ala1807Ser) c.5374G>T (p.Ala1792Ser) n.5626G>T c.5527G>T (p.Ala1843Ser) c.4432G>T (p.Ala1478Ser) c.616G>T (p.Ala206Ser) c.169G>T (p.Ala57Ser) c.4021G>T (p.Ala1341Ser) n.5544G>T | |
| 5 | g.13841757C>G | CA359211268 | DNAH5 | c.5419G>C (p.Ala1807Pro) c.5374G>C (p.Ala1792Pro) n.5626G>C c.5527G>C (p.Ala1843Pro) c.4432G>C (p.Ala1478Pro) c.616G>C (p.Ala206Pro) c.169G>C (p.Ala57Pro) c.4021G>C (p.Ala1341Pro) n.5544G>C | |
| 5 | g.13841757C>T | CA359211254 | DNAH5 | c.5419G>A (p.Ala1807Thr) c.5374G>A (p.Ala1792Thr) n.5626G>A c.5527G>A (p.Ala1843Thr) c.4432G>A (p.Ala1478Thr) c.616G>A (p.Ala206Thr) c.169G>A (p.Ala57Thr) c.4021G>A (p.Ala1341Thr) n.5544G>A | |
| 5 | g.13841758C>A | CA359211275 | DNAH5 | c.5418G>T (p.Gln1806His) c.5373G>T (p.Gln1791His) n.5625G>T c.5526G>T (p.Gln1842His) c.4431G>T (p.Gln1477His) c.615G>T (p.Gln205His) c.168G>T (p.Gln56His) c.4020G>T (p.Gln1340His) n.5543G>T | |
| 5 | g.13841758C= | CA1528458363 | DNAH5 | c.5418G= (p.Gln1806=) c.5373G= (p.Gln1791=) n.5625G= c.5526G= (p.Gln1842=) c.4431G= (p.Gln1477=) c.615G= (p.Gln205=) c.168G= (p.Gln56=) c.4020G= (p.Gln1340=) n.5543G= | |
| 5 | g.13841758C>G | CA359211287 | DNAH5 | c.5418G>C (p.Gln1806His) c.5373G>C (p.Gln1791His) n.5625G>C c.5526G>C (p.Gln1842His) c.4431G>C (p.Gln1477His) c.615G>C (p.Gln205His) c.168G>C (p.Gln56His) c.4020G>C (p.Gln1340His) n.5543G>C | |
| 5 | g.13841758C>T | CA3203681 | DNAH5 | c.5418G>A (p.Gln1806=) c.5373G>A (p.Gln1791=) n.5625G>A c.5526G>A (p.Gln1842=) c.4431G>A (p.Gln1477=) c.615G>A (p.Gln205=) c.168G>A (p.Gln56=) c.4020G>A (p.Gln1340=) n.5543G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13841759T>A | CA359211291 | DNAH5 | c.5417A>T (p.Gln1806Leu) c.5372A>T (p.Gln1791Leu) n.5624A>T c.5525A>T (p.Gln1842Leu) c.4430A>T (p.Gln1477Leu) c.614A>T (p.Gln205Leu) c.167A>T (p.Gln56Leu) c.4019A>T (p.Gln1340Leu) n.5542A>T | |
| 5 | g.13841759T>C | CA359211293 | DNAH5 | c.5417A>G (p.Gln1806Arg) c.5372A>G (p.Gln1791Arg) n.5624A>G c.5525A>G (p.Gln1842Arg) c.4430A>G (p.Gln1477Arg) c.614A>G (p.Gln205Arg) c.167A>G (p.Gln56Arg) c.4019A>G (p.Gln1340Arg) n.5542A>G | |
| 5 | g.13841759T>G | CA359211292 | DNAH5 | c.5417A>C (p.Gln1806Pro) c.5372A>C (p.Gln1791Pro) n.5624A>C c.5525A>C (p.Gln1842Pro) c.4430A>C (p.Gln1477Pro) c.614A>C (p.Gln205Pro) c.167A>C (p.Gln56Pro) c.4019A>C (p.Gln1340Pro) n.5542A>C | |
| 5 | g.13841760G>A | CA359211294 | DNAH5 | c.5416C>T (p.Gln1806Ter) c.5371C>T (p.Gln1791Ter) n.5623C>T c.5524C>T (p.Gln1842Ter) c.4429C>T (p.Gln1477Ter) c.613C>T (p.Gln205Ter) c.166C>T (p.Gln56Ter) c.4018C>T (p.Gln1340Ter) n.5541C>T | gnomAD v4 |
| 5 | g.13841760G>C | CA359211295 | DNAH5 | c.5416C>G (p.Gln1806Glu) c.5371C>G (p.Gln1791Glu) n.5623C>G c.5524C>G (p.Gln1842Glu) c.4429C>G (p.Gln1477Glu) c.613C>G (p.Gln205Glu) c.166C>G (p.Gln56Glu) c.4018C>G (p.Gln1340Glu) n.5541C>G | |
| 5 | g.13841760G>T | CA359211299 | DNAH5 | c.5416C>A (p.Gln1806Lys) c.5371C>A (p.Gln1791Lys) n.5623C>A c.5524C>A (p.Gln1842Lys) c.4429C>A (p.Gln1477Lys) c.613C>A (p.Gln205Lys) c.166C>A (p.Gln56Lys) c.4018C>A (p.Gln1340Lys) n.5541C>A | |
| 5 | g.13841761G>A | CA443256150 | DNAH5 | c.5415C>T (p.Arg1805=) c.5370C>T (p.Arg1790=) n.5622C>T c.5523C>T (p.Arg1841=) c.4428C>T (p.Arg1476=) c.612C>T (p.Arg204=) c.165C>T (p.Arg55=) c.4017C>T (p.Arg1339=) n.5540C>T | |
| 5 | g.13841761G>C | CA443256146 | DNAH5 | c.5415C>G (p.Arg1805=) c.5370C>G (p.Arg1790=) n.5622C>G c.5523C>G (p.Arg1841=) c.4428C>G (p.Arg1476=) c.612C>G (p.Arg204=) c.165C>G (p.Arg55=) c.4017C>G (p.Arg1339=) n.5540C>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13841761G= | CA1528458365 | DNAH5 | c.5415C= (p.Arg1805=) c.5370C= (p.Arg1790=) n.5622C= c.5523C= (p.Arg1841=) c.4428C= (p.Arg1476=) c.612C= (p.Arg204=) c.165C= (p.Arg55=) c.4017C= (p.Arg1339=) n.5540C= | |
| 5 | g.13841761G>T | CA443256148 | DNAH5 | c.5415C>A (p.Arg1805=) c.5370C>A (p.Arg1790=) n.5622C>A c.5523C>A (p.Arg1841=) c.4428C>A (p.Arg1476=) c.612C>A (p.Arg204=) c.165C>A (p.Arg55=) c.4017C>A (p.Arg1339=) n.5540C>A | |
| 5 | g.13841762C>A | CA359211304 | DNAH5 | c.5414G>T (p.Arg1805Leu) c.5369G>T (p.Arg1790Leu) n.5621G>T c.5522G>T (p.Arg1841Leu) c.4427G>T (p.Arg1476Leu) c.611G>T (p.Arg204Leu) c.164G>T (p.Arg55Leu) c.4016G>T (p.Arg1339Leu) n.5539G>T | |
| 5 | g.13841762C= | CA1528458367 | DNAH5 | c.5414G= (p.Arg1805=) c.5369G= (p.Arg1790=) n.5621G= c.5522G= (p.Arg1841=) c.4427G= (p.Arg1476=) c.611G= (p.Arg204=) c.164G= (p.Arg55=) c.4016G= (p.Arg1339=) n.5539G= | |
| 5 | g.13841762C>G | CA359211309 | DNAH5 | c.5414G>C (p.Arg1805Pro) c.5369G>C (p.Arg1790Pro) n.5621G>C c.5522G>C (p.Arg1841Pro) c.4427G>C (p.Arg1476Pro) c.611G>C (p.Arg204Pro) c.164G>C (p.Arg55Pro) c.4016G>C (p.Arg1339Pro) n.5539G>C | gnomAD v4 |
| 5 | g.13841762C>T | CA3203682 | DNAH5 | c.5414G>A (p.Arg1805His) c.5369G>A (p.Arg1790His) n.5621G>A c.5522G>A (p.Arg1841His) c.4427G>A (p.Arg1476His) c.611G>A (p.Arg204His) c.164G>A (p.Arg55His) c.4016G>A (p.Arg1339His) n.5539G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13841763G>A | CA3203683 | DNAH5 | c.5413C>T (p.Arg1805Cys) c.5368C>T (p.Arg1790Cys) n.5620C>T c.5521C>T (p.Arg1841Cys) c.4426C>T (p.Arg1476Cys) c.610C>T (p.Arg204Cys) c.163C>T (p.Arg55Cys) c.4015C>T (p.Arg1339Cys) n.5538C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.[13841763G>A;13890971A>C] | CA2742038360 | DNAH5 | c.[2577+5T>G;5413C>T] (p.Arg1805Cys) c.[2532+5T>G;5368C>T] (p.Arg1790Cys) n.[2784+5T>G;5620C>T] c.[2685+5T>G;5521C>T] (p.Arg1841Cys) c.[1590+5T>G;4426C>T] (p.Arg1476Cys) c.[1179+5T>G;4015C>T] (p.Arg1339Cys) n.[2702+5T>G;5538C>T] | ClinVar |
| 5 | g.13841763G>C | CA359211319 | DNAH5 | c.5413C>G (p.Arg1805Gly) c.5368C>G (p.Arg1790Gly) n.5620C>G c.5521C>G (p.Arg1841Gly) c.4426C>G (p.Arg1476Gly) c.610C>G (p.Arg204Gly) c.163C>G (p.Arg55Gly) c.4015C>G (p.Arg1339Gly) n.5538C>G | |
| 5 | g.13841763G= | CA1528458369 | DNAH5 | c.5413C= (p.Arg1805=) c.5368C= (p.Arg1790=) n.5620C= c.5521C= (p.Arg1841=) c.4426C= (p.Arg1476=) c.610C= (p.Arg204=) c.163C= (p.Arg55=) c.4015C= (p.Arg1339=) n.5538C= | |
| 5 | g.13841763G>T | CA359211323 | DNAH5 | c.5413C>A (p.Arg1805Ser) c.5368C>A (p.Arg1790Ser) n.5620C>A c.5521C>A (p.Arg1841Ser) c.4426C>A (p.Arg1476Ser) c.610C>A (p.Arg204Ser) c.163C>A (p.Arg55Ser) c.4015C>A (p.Arg1339Ser) n.5538C>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13841764A= | CA1528458371 | DNAH5 | c.5412T= (p.Ile1804=) c.5367T= (p.Ile1789=) n.5619T= c.5520T= (p.Ile1840=) c.4425T= (p.Ile1475=) c.609T= (p.Ile203=) c.162T= (p.Ile54=) c.4014T= (p.Ile1338=) n.5537T= | |
| 5 | g.13841764A>C | CA3203684 | DNAH5 | c.5412T>G (p.Ile1804Met) c.5367T>G (p.Ile1789Met) n.5619T>G c.5520T>G (p.Ile1840Met) c.4425T>G (p.Ile1475Met) c.609T>G (p.Ile203Met) c.162T>G (p.Ile54Met) c.4014T>G (p.Ile1338Met) n.5537T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13841764A>G | CA443256156 | DNAH5 | c.5412T>C (p.Ile1804=) c.5367T>C (p.Ile1789=) n.5619T>C c.5520T>C (p.Ile1840=) c.4425T>C (p.Ile1475=) c.609T>C (p.Ile203=) c.162T>C (p.Ile54=) c.4014T>C (p.Ile1338=) n.5537T>C | |
| 5 | g.13841764A>T | CA443256157 | DNAH5 | c.5412T>A (p.Ile1804=) c.5367T>A (p.Ile1789=) n.5619T>A c.5520T>A (p.Ile1840=) c.4425T>A (p.Ile1475=) c.609T>A (p.Ile203=) c.162T>A (p.Ile54=) c.4014T>A (p.Ile1338=) n.5537T>A | |
| 5 | g.13841765A>C | CA359211350 | DNAH5 | c.5411T>G (p.Ile1804Ser) c.5366T>G (p.Ile1789Ser) n.5618T>G c.5519T>G (p.Ile1840Ser) c.4424T>G (p.Ile1475Ser) c.608T>G (p.Ile203Ser) c.161T>G (p.Ile54Ser) c.4013T>G (p.Ile1338Ser) n.5536T>G | |
| 5 | g.13841765A>G | CA359211367 | DNAH5 | c.5411T>C (p.Ile1804Thr) c.5366T>C (p.Ile1789Thr) n.5618T>C c.5519T>C (p.Ile1840Thr) c.4424T>C (p.Ile1475Thr) c.608T>C (p.Ile203Thr) c.161T>C (p.Ile54Thr) c.4013T>C (p.Ile1338Thr) n.5536T>C | |
| 5 | g.13841765A>T | CA359211369 | DNAH5 | c.5411T>A (p.Ile1804Asn) c.5366T>A (p.Ile1789Asn) n.5618T>A c.5519T>A (p.Ile1840Asn) c.4424T>A (p.Ile1475Asn) c.608T>A (p.Ile203Asn) c.161T>A (p.Ile54Asn) c.4013T>A (p.Ile1338Asn) n.5536T>A | |
| 5 | g.13841766T>A | CA359211381 | DNAH5 | c.5410A>T (p.Ile1804Phe) c.5365A>T (p.Ile1789Phe) n.5617A>T c.5518A>T (p.Ile1840Phe) c.4423A>T (p.Ile1475Phe) c.607A>T (p.Ile203Phe) c.160A>T (p.Ile54Phe) c.4012A>T (p.Ile1338Phe) n.5535A>T | |
| 5 | g.13841766T>C | CA359211375 | DNAH5 | c.5410A>G (p.Ile1804Val) c.5365A>G (p.Ile1789Val) n.5617A>G c.5518A>G (p.Ile1840Val) c.4423A>G (p.Ile1475Val) c.607A>G (p.Ile203Val) c.160A>G (p.Ile54Val) c.4012A>G (p.Ile1338Val) n.5535A>G | |
| 5 | g.13841766T>G | CA359211377 | DNAH5 | c.5410A>C (p.Ile1804Leu) c.5365A>C (p.Ile1789Leu) n.5617A>C c.5518A>C (p.Ile1840Leu) c.4423A>C (p.Ile1475Leu) c.607A>C (p.Ile203Leu) c.160A>C (p.Ile54Leu) c.4012A>C (p.Ile1338Leu) n.5535A>C | |
| 5 | g.13841767C>A | CA443256165 | DNAH5 | c.5409G>T (p.Val1803=) c.5364G>T (p.Val1788=) n.5616G>T c.5517G>T (p.Val1839=) c.4422G>T (p.Val1474=) c.606G>T (p.Val202=) c.159G>T (p.Val53=) c.4011G>T (p.Val1337=) n.5534G>T | |
| 5 | g.13841767C>G | CA443256169 | DNAH5 | c.5409G>C (p.Val1803=) c.5364G>C (p.Val1788=) n.5616G>C c.5517G>C (p.Val1839=) c.4422G>C (p.Val1474=) c.606G>C (p.Val202=) c.159G>C (p.Val53=) c.4011G>C (p.Val1337=) n.5534G>C | |
| 5 | g.13841767C>T | CA443256167 | DNAH5 | c.5409G>A (p.Val1803=) c.5364G>A (p.Val1788=) n.5616G>A c.5517G>A (p.Val1839=) c.4422G>A (p.Val1474=) c.606G>A (p.Val202=) c.159G>A (p.Val53=) c.4011G>A (p.Val1337=) n.5534G>A | ClinVar dbSNP COSMIC |
| 5 | g.13841768A>C | CA359211382 | DNAH5 | c.5408T>G (p.Val1803Gly) c.5363T>G (p.Val1788Gly) n.5615T>G c.5516T>G (p.Val1839Gly) c.4421T>G (p.Val1474Gly) c.605T>G (p.Val202Gly) c.158T>G (p.Val53Gly) c.4010T>G (p.Val1337Gly) n.5533T>G | |
| 5 | g.13841768A>G | CA359211383 | DNAH5 | c.5408T>C (p.Val1803Ala) c.5363T>C (p.Val1788Ala) n.5615T>C c.5516T>C (p.Val1839Ala) c.4421T>C (p.Val1474Ala) c.605T>C (p.Val202Ala) c.158T>C (p.Val53Ala) c.4010T>C (p.Val1337Ala) n.5533T>C | |
| 5 | g.13841768A>T | CA359211384 | DNAH5 | c.5408T>A (p.Val1803Glu) c.5363T>A (p.Val1788Glu) n.5615T>A c.5516T>A (p.Val1839Glu) c.4421T>A (p.Val1474Glu) c.605T>A (p.Val202Glu) c.158T>A (p.Val53Glu) c.4010T>A (p.Val1337Glu) n.5533T>A |