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.13841773A>C | CA359211434 | DNAH5 | c.5403T>G (p.His1801Gln) c.5358T>G (p.His1786Gln) n.5610T>G c.5511T>G (p.His1837Gln) c.4416T>G (p.His1472Gln) c.600T>G (p.His200Gln) c.153T>G (p.His51Gln) c.4005T>G (p.His1335Gln) n.5528T>G | |
| 5 | g.13841773A>G | CA443256206 | DNAH5 | c.5403T>C (p.His1801=) c.5358T>C (p.His1786=) n.5610T>C c.5511T>C (p.His1837=) c.4416T>C (p.His1472=) c.600T>C (p.His200=) c.153T>C (p.His51=) c.4005T>C (p.His1335=) n.5528T>C | |
| 5 | g.13841773A>T | CA359211436 | DNAH5 | c.5403T>A (p.His1801Gln) c.5358T>A (p.His1786Gln) n.5610T>A c.5511T>A (p.His1837Gln) c.4416T>A (p.His1472Gln) c.600T>A (p.His200Gln) c.153T>A (p.His51Gln) c.4005T>A (p.His1335Gln) n.5528T>A | |
| 5 | g.13841774T>A | CA359211446 | DNAH5 | c.5402A>T (p.His1801Leu) c.5357A>T (p.His1786Leu) n.5609A>T c.5510A>T (p.His1837Leu) c.4415A>T (p.His1472Leu) c.599A>T (p.His200Leu) c.152A>T (p.His51Leu) c.4004A>T (p.His1335Leu) n.5527A>T | |
| 5 | g.13841774T>C | CA359211457 | DNAH5 | c.5402A>G (p.His1801Arg) c.5357A>G (p.His1786Arg) n.5609A>G c.5510A>G (p.His1837Arg) c.4415A>G (p.His1472Arg) c.599A>G (p.His200Arg) c.152A>G (p.His51Arg) c.4004A>G (p.His1335Arg) n.5527A>G | gnomAD v4 |
| 5 | g.13841774T>G | CA359211460 | DNAH5 | c.5402A>C (p.His1801Pro) c.5357A>C (p.His1786Pro) n.5609A>C c.5510A>C (p.His1837Pro) c.4415A>C (p.His1472Pro) c.599A>C (p.His200Pro) c.152A>C (p.His51Pro) c.4004A>C (p.His1335Pro) n.5527A>C | |
| 5 | g.13841775G>A | CA113947690 | DNAH5 | c.5401C>T (p.His1801Tyr) c.5356C>T (p.His1786Tyr) n.5608C>T c.5509C>T (p.His1837Tyr) c.4414C>T (p.His1472Tyr) c.598C>T (p.His200Tyr) c.151C>T (p.His51Tyr) c.4003C>T (p.His1335Tyr) n.5526C>T | dbSNP gnomAD v4 |
| 5 | g.13841775G>C | CA359211465 | DNAH5 | c.5401C>G (p.His1801Asp) c.5356C>G (p.His1786Asp) n.5608C>G c.5509C>G (p.His1837Asp) c.4414C>G (p.His1472Asp) c.598C>G (p.His200Asp) c.151C>G (p.His51Asp) c.4003C>G (p.His1335Asp) n.5526C>G | |
| 5 | g.13841775G= | CA1528458375 | DNAH5 | c.5401C= (p.His1801=) c.5356C= (p.His1786=) n.5608C= c.5509C= (p.His1837=) c.4414C= (p.His1472=) c.598C= (p.His200=) c.151C= (p.His51=) c.4003C= (p.His1335=) n.5526C= | |
| 5 | g.13841775G>T | CA359211468 | DNAH5 | c.5401C>A (p.His1801Asn) c.5356C>A (p.His1786Asn) n.5608C>A c.5509C>A (p.His1837Asn) c.4414C>A (p.His1472Asn) c.598C>A (p.His200Asn) c.151C>A (p.His51Asn) c.4003C>A (p.His1335Asn) n.5526C>A | |
| 5 | g.13841776C>A | CA359211474 | DNAH5 | c.5400G>T (p.Leu1800Phe) c.5355G>T (p.Leu1785Phe) n.5607G>T c.5508G>T (p.Leu1836Phe) c.4413G>T (p.Leu1471Phe) c.597G>T (p.Leu199Phe) c.150G>T (p.Leu50Phe) c.4002G>T (p.Leu1334Phe) n.5525G>T | |
| 5 | g.13841776C= | CA1528458376 | DNAH5 | c.5400G= (p.Leu1800=) c.5355G= (p.Leu1785=) n.5607G= c.5508G= (p.Leu1836=) c.4413G= (p.Leu1471=) c.597G= (p.Leu199=) c.150G= (p.Leu50=) c.4002G= (p.Leu1334=) n.5525G= | |
| 5 | g.13841776C>G | CA359211473 | DNAH5 | c.5400G>C (p.Leu1800Phe) c.5355G>C (p.Leu1785Phe) n.5607G>C c.5508G>C (p.Leu1836Phe) c.4413G>C (p.Leu1471Phe) c.597G>C (p.Leu199Phe) c.150G>C (p.Leu50Phe) c.4002G>C (p.Leu1334Phe) n.5525G>C | |
| 5 | g.13841776C>T | CA443256223 | DNAH5 | c.5400G>A (p.Leu1800=) c.5355G>A (p.Leu1785=) n.5607G>A c.5508G>A (p.Leu1836=) c.4413G>A (p.Leu1471=) c.597G>A (p.Leu199=) c.150G>A (p.Leu50=) c.4002G>A (p.Leu1334=) n.5525G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13841777A= | CA1528458378 | DNAH5 | c.5399T= (p.Leu1800=) c.5354T= (p.Leu1785=) n.5606T= c.5507T= (p.Leu1836=) c.4412T= (p.Leu1471=) c.596T= (p.Leu199=) c.149T= (p.Leu50=) c.4001T= (p.Leu1334=) n.5524T= | |
| 5 | g.13841777A>C | CA359211480 | DNAH5 | c.5399T>G (p.Leu1800Trp) c.5354T>G (p.Leu1785Trp) n.5606T>G c.5507T>G (p.Leu1836Trp) c.4412T>G (p.Leu1471Trp) c.596T>G (p.Leu199Trp) c.149T>G (p.Leu50Trp) c.4001T>G (p.Leu1334Trp) n.5524T>G | |
| 5 | g.13841777A>G | CA359211482 | DNAH5 | c.5399T>C (p.Leu1800Ser) c.5354T>C (p.Leu1785Ser) n.5606T>C c.5507T>C (p.Leu1836Ser) c.4412T>C (p.Leu1471Ser) c.596T>C (p.Leu199Ser) c.149T>C (p.Leu50Ser) c.4001T>C (p.Leu1334Ser) n.5524T>C | ClinVar dbSNP gnomAD v4 |
| 5 | g.13841777A>T | CA359211486 | DNAH5 | c.5399T>A (p.Leu1800Ter) c.5354T>A (p.Leu1785Ter) n.5606T>A c.5507T>A (p.Leu1836Ter) c.4412T>A (p.Leu1471Ter) c.596T>A (p.Leu199Ter) c.149T>A (p.Leu50Ter) c.4001T>A (p.Leu1334Ter) n.5524T>A | ClinVar |
| 5 | g.13841778A= | CA1528458380 | DNAH5 | c.5398T= (p.Leu1800=) c.5353T= (p.Leu1785=) n.5605T= c.5506T= (p.Leu1836=) c.4411T= (p.Leu1471=) c.595T= (p.Leu199=) c.148T= (p.Leu50=) c.4000T= (p.Leu1334=) n.5523T= | |
| 5 | g.13841778A>C | CA359211493 | DNAH5 | c.5398T>G (p.Leu1800Val) c.5353T>G (p.Leu1785Val) n.5605T>G c.5506T>G (p.Leu1836Val) c.4411T>G (p.Leu1471Val) c.595T>G (p.Leu199Val) c.148T>G (p.Leu50Val) c.4000T>G (p.Leu1334Val) n.5523T>G | |
| 5 | g.13841778A>G | CA3203685 | DNAH5 | c.5398T>C (p.Leu1800=) c.5353T>C (p.Leu1785=) n.5605T>C c.5506T>C (p.Leu1836=) c.4411T>C (p.Leu1471=) c.595T>C (p.Leu199=) c.148T>C (p.Leu50=) c.4000T>C (p.Leu1334=) n.5523T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13841778A>T | CA359211495 | DNAH5 | c.5398T>A (p.Leu1800Met) c.5353T>A (p.Leu1785Met) n.5605T>A c.5506T>A (p.Leu1836Met) c.4411T>A (p.Leu1471Met) c.595T>A (p.Leu199Met) c.148T>A (p.Leu50Met) c.4000T>A (p.Leu1334Met) n.5523T>A | |
| 5 | g.13841779T>A | CA443256240 | DNAH5 | c.5397A>T (p.Ser1799=) c.5352A>T (p.Ser1784=) n.5604A>T c.5505A>T (p.Ser1835=) c.4410A>T (p.Ser1470=) c.594A>T (p.Ser198=) c.147A>T (p.Ser49=) c.3999A>T (p.Ser1333=) n.5522A>T | |
| 5 | g.13841779T>C | CA443256241 | DNAH5 | c.5397A>G (p.Ser1799=) c.5352A>G (p.Ser1784=) n.5604A>G c.5505A>G (p.Ser1835=) c.4410A>G (p.Ser1470=) c.594A>G (p.Ser198=) c.147A>G (p.Ser49=) c.3999A>G (p.Ser1333=) n.5522A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13841779T>G | CA443256242 | DNAH5 | c.5397A>C (p.Ser1799=) c.5352A>C (p.Ser1784=) n.5604A>C c.5505A>C (p.Ser1835=) c.4410A>C (p.Ser1470=) c.594A>C (p.Ser198=) c.147A>C (p.Ser49=) c.3999A>C (p.Ser1333=) n.5522A>C | |
| 5 | g.13841779T= | CA1528458381 | DNAH5 | c.5397A= (p.Ser1799=) c.5352A= (p.Ser1784=) n.5604A= c.5505A= (p.Ser1835=) c.4410A= (p.Ser1470=) c.594A= (p.Ser198=) c.147A= (p.Ser49=) c.3999A= (p.Ser1333=) n.5522A= | |
| 5 | g.13841780G>A | CA233909 | DNAH5 | c.5396C>T (p.Ser1799Leu) c.5351C>T (p.Ser1784Leu) n.5603C>T c.5504C>T (p.Ser1835Leu) c.4409C>T (p.Ser1470Leu) c.593C>T (p.Ser198Leu) c.146C>T (p.Ser49Leu) c.3998C>T (p.Ser1333Leu) n.5521C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.13841780G>C | CA359211501 | DNAH5 | c.5396C>G (p.Ser1799Ter) c.5351C>G (p.Ser1784Ter) n.5603C>G c.5504C>G (p.Ser1835Ter) c.4409C>G (p.Ser1470Ter) c.593C>G (p.Ser198Ter) c.146C>G (p.Ser49Ter) c.3998C>G (p.Ser1333Ter) n.5521C>G | |
| 5 | g.13841780G= | CA1528458383 | DNAH5 | c.5396C= (p.Ser1799=) c.5351C= (p.Ser1784=) n.5603C= c.5504C= (p.Ser1835=) c.4409C= (p.Ser1470=) c.593C= (p.Ser198=) c.146C= (p.Ser49=) c.3998C= (p.Ser1333=) n.5521C= | |
| 5 | g.13841780G>T | CA359211497 | DNAH5 | c.5396C>A (p.Ser1799Ter) c.5351C>A (p.Ser1784Ter) n.5603C>A c.5504C>A (p.Ser1835Ter) c.4409C>A (p.Ser1470Ter) c.593C>A (p.Ser198Ter) c.146C>A (p.Ser49Ter) c.3998C>A (p.Ser1333Ter) n.5521C>A | |
| 5 | g.13841781A>C | CA359211513 | DNAH5 | c.5395T>G (p.Ser1799Ala) c.5350T>G (p.Ser1784Ala) n.5602T>G c.5503T>G (p.Ser1835Ala) c.4408T>G (p.Ser1470Ala) c.592T>G (p.Ser198Ala) c.145T>G (p.Ser49Ala) c.3997T>G (p.Ser1333Ala) n.5520T>G | |
| 5 | g.13841781A>G | CA359211516 | DNAH5 | c.5395T>C (p.Ser1799Pro) c.5350T>C (p.Ser1784Pro) n.5602T>C c.5503T>C (p.Ser1835Pro) c.4408T>C (p.Ser1470Pro) c.592T>C (p.Ser198Pro) c.145T>C (p.Ser49Pro) c.3997T>C (p.Ser1333Pro) n.5520T>C | |
| 5 | g.13841781A>T | CA359211529 | DNAH5 | c.5395T>A (p.Ser1799Thr) c.5350T>A (p.Ser1784Thr) n.5602T>A c.5503T>A (p.Ser1835Thr) c.4408T>A (p.Ser1470Thr) c.592T>A (p.Ser198Thr) c.145T>A (p.Ser49Thr) c.3997T>A (p.Ser1333Thr) n.5520T>A | |
| 5 | g.13841782G>A | CA443256250 | DNAH5 | c.5394C>T (p.Ser1798=) c.5349C>T (p.Ser1783=) n.5601C>T c.5502C>T (p.Ser1834=) c.4407C>T (p.Ser1469=) c.591C>T (p.Ser197=) c.144C>T (p.Ser48=) c.3996C>T (p.Ser1332=) n.5519C>T | |
| 5 | g.13841782G>C | CA443256247 | DNAH5 | c.5394C>G (p.Ser1798=) c.5349C>G (p.Ser1783=) n.5601C>G c.5502C>G (p.Ser1834=) c.4407C>G (p.Ser1469=) c.591C>G (p.Ser197=) c.144C>G (p.Ser48=) c.3996C>G (p.Ser1332=) n.5519C>G | gnomAD v4 |
| 5 | g.13841782G>T | CA443256248 | DNAH5 | c.5394C>A (p.Ser1798=) c.5349C>A (p.Ser1783=) n.5601C>A c.5502C>A (p.Ser1834=) c.4407C>A (p.Ser1469=) c.591C>A (p.Ser197=) c.144C>A (p.Ser48=) c.3996C>A (p.Ser1332=) n.5519C>A | |
| 5 | g.13841783G>A | CA359211544 | DNAH5 | c.5393C>T (p.Ser1798Phe) c.5348C>T (p.Ser1783Phe) n.5600C>T c.5501C>T (p.Ser1834Phe) c.4406C>T (p.Ser1469Phe) c.590C>T (p.Ser197Phe) c.143C>T (p.Ser48Phe) c.3995C>T (p.Ser1332Phe) n.5518C>T | gnomAD v4 |
| 5 | g.13841783G>C | CA359211546 | DNAH5 | c.5393C>G (p.Ser1798Cys) c.5348C>G (p.Ser1783Cys) n.5600C>G c.5501C>G (p.Ser1834Cys) c.4406C>G (p.Ser1469Cys) c.590C>G (p.Ser197Cys) c.143C>G (p.Ser48Cys) c.3995C>G (p.Ser1332Cys) n.5518C>G | |
| 5 | g.13841783G>T | CA359211550 | DNAH5 | c.5393C>A (p.Ser1798Tyr) c.5348C>A (p.Ser1783Tyr) n.5600C>A c.5501C>A (p.Ser1834Tyr) c.4406C>A (p.Ser1469Tyr) c.590C>A (p.Ser197Tyr) c.143C>A (p.Ser48Tyr) c.3995C>A (p.Ser1332Tyr) n.5518C>A | gnomAD v4 |
| 5 | g.13841784A= | CA1528458385 | DNAH5 | c.5392T= (p.Ser1798=) c.5347T= (p.Ser1783=) n.5599T= c.5500T= (p.Ser1834=) c.4405T= (p.Ser1469=) c.589T= (p.Ser197=) c.142T= (p.Ser48=) c.3994T= (p.Ser1332=) n.5517T= | |
| 5 | g.13841784A>C | CA359211555 | DNAH5 | c.5392T>G (p.Ser1798Ala) c.5347T>G (p.Ser1783Ala) n.5599T>G c.5500T>G (p.Ser1834Ala) c.4405T>G (p.Ser1469Ala) c.589T>G (p.Ser197Ala) c.142T>G (p.Ser48Ala) c.3994T>G (p.Ser1332Ala) n.5517T>G | |
| 5 | g.13841784A>G | CA16611811 | DNAH5 | c.5392T>C (p.Ser1798Pro) c.5347T>C (p.Ser1783Pro) n.5599T>C c.5500T>C (p.Ser1834Pro) c.4405T>C (p.Ser1469Pro) c.589T>C (p.Ser197Pro) c.142T>C (p.Ser48Pro) c.3994T>C (p.Ser1332Pro) n.5517T>C | ClinVar dbSNP |
| 5 | g.13841784A>T | CA359211561 | DNAH5 | c.5392T>A (p.Ser1798Thr) c.5347T>A (p.Ser1783Thr) n.5599T>A c.5500T>A (p.Ser1834Thr) c.4405T>A (p.Ser1469Thr) c.589T>A (p.Ser197Thr) c.142T>A (p.Ser48Thr) c.3994T>A (p.Ser1332Thr) n.5517T>A | |
| 5 | g.13841785C>A | CA359211565 | DNAH5 | c.5391G>T (p.Gln1797His) c.5346G>T (p.Gln1782His) n.5598G>T c.5499G>T (p.Gln1833His) c.4404G>T (p.Gln1468His) c.588G>T (p.Gln196His) c.141G>T (p.Gln47His) c.3993G>T (p.Gln1331His) n.5516G>T | |
| 5 | g.13841785C>G | CA359211569 | DNAH5 | c.5391G>C (p.Gln1797His) c.5346G>C (p.Gln1782His) n.5598G>C c.5499G>C (p.Gln1833His) c.4404G>C (p.Gln1468His) c.588G>C (p.Gln196His) c.141G>C (p.Gln47His) c.3993G>C (p.Gln1331His) n.5516G>C | |
| 5 | g.13841785C>T | CA443256266 | DNAH5 | c.5391G>A (p.Gln1797=) c.5346G>A (p.Gln1782=) n.5598G>A c.5499G>A (p.Gln1833=) c.4404G>A (p.Gln1468=) c.588G>A (p.Gln196=) c.141G>A (p.Gln47=) c.3993G>A (p.Gln1331=) n.5516G>A | ClinVar |
| 5 | g.13841786T>A | CA359211572 | DNAH5 | c.5390A>T (p.Gln1797Leu) c.5345A>T (p.Gln1782Leu) n.5597A>T c.5498A>T (p.Gln1833Leu) c.4403A>T (p.Gln1468Leu) c.587A>T (p.Gln196Leu) c.140A>T (p.Gln47Leu) c.3992A>T (p.Gln1331Leu) n.5515A>T | |
| 5 | g.13841786T>C | CA359211586 | DNAH5 | c.5390A>G (p.Gln1797Arg) c.5345A>G (p.Gln1782Arg) n.5597A>G c.5498A>G (p.Gln1833Arg) c.4403A>G (p.Gln1468Arg) c.587A>G (p.Gln196Arg) c.140A>G (p.Gln47Arg) c.3992A>G (p.Gln1331Arg) n.5515A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13841786T>G | CA359211581 | DNAH5 | c.5390A>C (p.Gln1797Pro) c.5345A>C (p.Gln1782Pro) n.5597A>C c.5498A>C (p.Gln1833Pro) c.4403A>C (p.Gln1468Pro) c.587A>C (p.Gln196Pro) c.140A>C (p.Gln47Pro) c.3992A>C (p.Gln1331Pro) n.5515A>C | |
| 5 | g.13841786T= | CA1528458386 | DNAH5 | c.5390A= (p.Gln1797=) c.5345A= (p.Gln1782=) n.5597A= c.5498A= (p.Gln1833=) c.4403A= (p.Gln1468=) c.587A= (p.Gln196=) c.140A= (p.Gln47=) c.3992A= (p.Gln1331=) n.5515A= | |
| 5 | g.13841787G>A | CA359211599 | DNAH5 | c.5389C>T (p.Gln1797Ter) c.5344C>T (p.Gln1782Ter) n.5596C>T c.5497C>T (p.Gln1833Ter) c.4402C>T (p.Gln1468Ter) c.586C>T (p.Gln196Ter) c.139C>T (p.Gln47Ter) c.3991C>T (p.Gln1331Ter) n.5514C>T | ClinVar COSMIC |
| 5 | g.13841787G>C | CA359211614 | DNAH5 | c.5389C>G (p.Gln1797Glu) c.5344C>G (p.Gln1782Glu) n.5596C>G c.5497C>G (p.Gln1833Glu) c.4402C>G (p.Gln1468Glu) c.586C>G (p.Gln196Glu) c.139C>G (p.Gln47Glu) c.3991C>G (p.Gln1331Glu) n.5514C>G | |
| 5 | g.13841787G>T | CA359211613 | DNAH5 | c.5389C>A (p.Gln1797Lys) c.5344C>A (p.Gln1782Lys) n.5596C>A c.5497C>A (p.Gln1833Lys) c.4402C>A (p.Gln1468Lys) c.586C>A (p.Gln196Lys) c.139C>A (p.Gln47Lys) c.3991C>A (p.Gln1331Lys) n.5514C>A | |
| 5 | g.13841788A>C | CA443256275 | DNAH5 | c.5388T>G (p.Ser1796=) c.5343T>G (p.Ser1781=) n.5595T>G c.5496T>G (p.Ser1832=) c.4401T>G (p.Ser1467=) c.585T>G (p.Ser195=) c.138T>G (p.Ser46=) c.3990T>G (p.Ser1330=) n.5513T>G | |
| 5 | g.13841788A>G | CA443256276 | DNAH5 | c.5388T>C (p.Ser1796=) c.5343T>C (p.Ser1781=) n.5595T>C c.5496T>C (p.Ser1832=) c.4401T>C (p.Ser1467=) c.585T>C (p.Ser195=) c.138T>C (p.Ser46=) c.3990T>C (p.Ser1330=) n.5513T>C | |
| 5 | g.13841788A>T | CA443256278 | DNAH5 | c.5388T>A (p.Ser1796=) c.5343T>A (p.Ser1781=) n.5595T>A c.5496T>A (p.Ser1832=) c.4401T>A (p.Ser1467=) c.585T>A (p.Ser195=) c.138T>A (p.Ser46=) c.3990T>A (p.Ser1330=) n.5513T>A | |
| 5 | g.13841788_13841789insTCGTCGTGCTGCT | CA2580072088 | DNAH5 | c.5387_5388insAGCAGCACGACGA (p.Gln1797AlafsTer28) c.5342_5343insAGCAGCACGACGA (p.Gln1782AlafsTer28) n.5594_5595insAGCAGCACGACGA c.5495_5496insAGCAGCACGACGA (p.Gln1833AlafsTer28) c.4400_4401insAGCAGCACGACGA (p.Gln1468AlafsTer28) c.584_585insAGCAGCACGACGA (p.Gln196AlafsTer28) c.137_138insAGCAGCACGACGA (p.Gln47AlafsTer28) c.3989_3990insAGCAGCACGACGA (p.Gln1331AlafsTer28) n.5512_5513insAGCAGCACGACGA | ClinVar |
| 5 | g.13841789G>A | CA359211620 | DNAH5 | c.5387C>T (p.Ser1796Phe) c.5342C>T (p.Ser1781Phe) n.5594C>T c.5495C>T (p.Ser1832Phe) c.4400C>T (p.Ser1467Phe) c.584C>T (p.Ser195Phe) c.137C>T (p.Ser46Phe) c.3989C>T (p.Ser1330Phe) n.5512C>T | dbSNP |
| 5 | g.13841789G>C | CA359211623 | DNAH5 | c.5387C>G (p.Ser1796Cys) c.5342C>G (p.Ser1781Cys) n.5594C>G c.5495C>G (p.Ser1832Cys) c.4400C>G (p.Ser1467Cys) c.584C>G (p.Ser195Cys) c.137C>G (p.Ser46Cys) c.3989C>G (p.Ser1330Cys) n.5512C>G | dbSNP gnomAD v4 |
| 5 | g.13841789G= | CA1528458387 | DNAH5 | c.5387C= (p.Ser1796=) c.5342C= (p.Ser1781=) n.5594C= c.5495C= (p.Ser1832=) c.4400C= (p.Ser1467=) c.584C= (p.Ser195=) c.137C= (p.Ser46=) c.3989C= (p.Ser1330=) n.5512C= | |
| 5 | g.13841789G>T | CA359211624 | DNAH5 | c.5387C>A (p.Ser1796Tyr) c.5342C>A (p.Ser1781Tyr) n.5594C>A c.5495C>A (p.Ser1832Tyr) c.4400C>A (p.Ser1467Tyr) c.584C>A (p.Ser195Tyr) c.137C>A (p.Ser46Tyr) c.3989C>A (p.Ser1330Tyr) n.5512C>A | COSMIC |
| 5 | g.13841790A>C | CA359211625 | DNAH5 | c.5386T>G (p.Ser1796Ala) c.5341T>G (p.Ser1781Ala) n.5593T>G c.5494T>G (p.Ser1832Ala) c.4399T>G (p.Ser1467Ala) c.583T>G (p.Ser195Ala) c.136T>G (p.Ser46Ala) c.3988T>G (p.Ser1330Ala) n.5511T>G | |
| 5 | g.13841790A>G | CA359211629 | DNAH5 | c.5386T>C (p.Ser1796Pro) c.5341T>C (p.Ser1781Pro) n.5593T>C c.5494T>C (p.Ser1832Pro) c.4399T>C (p.Ser1467Pro) c.583T>C (p.Ser195Pro) c.136T>C (p.Ser46Pro) c.3988T>C (p.Ser1330Pro) n.5511T>C | |
| 5 | g.13841790A>T | CA359211632 | DNAH5 | c.5386T>A (p.Ser1796Thr) c.5341T>A (p.Ser1781Thr) n.5593T>A c.5494T>A (p.Ser1832Thr) c.4399T>A (p.Ser1467Thr) c.583T>A (p.Ser195Thr) c.136T>A (p.Ser46Thr) c.3988T>A (p.Ser1330Thr) n.5511T>A | COSMIC |
| 5 | g.13841791T>A | CA359211634 | DNAH5 | c.5385A>T (p.Glu1795Asp) c.5340A>T (p.Glu1780Asp) n.5592A>T c.5493A>T (p.Glu1831Asp) c.4398A>T (p.Glu1466Asp) c.582A>T (p.Glu194Asp) c.135A>T (p.Glu45Asp) c.3987A>T (p.Glu1329Asp) n.5510A>T | |
| 5 | g.13841791T>C | CA443256299 | DNAH5 | c.5385A>G (p.Glu1795=) c.5340A>G (p.Glu1780=) n.5592A>G c.5493A>G (p.Glu1831=) c.4398A>G (p.Glu1466=) c.582A>G (p.Glu194=) c.135A>G (p.Glu45=) c.3987A>G (p.Glu1329=) n.5510A>G | |
| 5 | g.13841791T>G | CA359211635 | DNAH5 | c.5385A>C (p.Glu1795Asp) c.5340A>C (p.Glu1780Asp) n.5592A>C c.5493A>C (p.Glu1831Asp) c.4398A>C (p.Glu1466Asp) c.582A>C (p.Glu194Asp) c.135A>C (p.Glu45Asp) c.3987A>C (p.Glu1329Asp) n.5510A>C | |
| 5 | g.13841792T>A | CA359211636 | DNAH5 | c.5384A>T (p.Glu1795Val) c.5339A>T (p.Glu1780Val) n.5591A>T c.5492A>T (p.Glu1831Val) c.4397A>T (p.Glu1466Val) c.581A>T (p.Glu194Val) c.134A>T (p.Glu45Val) c.3986A>T (p.Glu1329Val) n.5509A>T | |
| 5 | g.13841792T>C | CA359211637 | DNAH5 | c.5384A>G (p.Glu1795Gly) c.5339A>G (p.Glu1780Gly) n.5591A>G c.5492A>G (p.Glu1831Gly) c.4397A>G (p.Glu1466Gly) c.581A>G (p.Glu194Gly) c.134A>G (p.Glu45Gly) c.3986A>G (p.Glu1329Gly) n.5509A>G | |
| 5 | g.13841792T>G | CA359211638 | DNAH5 | c.5384A>C (p.Glu1795Ala) c.5339A>C (p.Glu1780Ala) n.5591A>C c.5492A>C (p.Glu1831Ala) c.4397A>C (p.Glu1466Ala) c.581A>C (p.Glu194Ala) c.134A>C (p.Glu45Ala) c.3986A>C (p.Glu1329Ala) n.5509A>C | |
| 5 | g.13841793C>A | CA359211642 | DNAH5 | c.5383G>T (p.Glu1795Ter) c.5338G>T (p.Glu1780Ter) n.5590G>T c.5491G>T (p.Glu1831Ter) c.4396G>T (p.Glu1466Ter) c.580G>T (p.Glu194Ter) c.133G>T (p.Glu45Ter) c.3985G>T (p.Glu1329Ter) n.5508G>T | |
| 5 | g.13841793C>G | CA359211639 | DNAH5 | c.5383G>C (p.Glu1795Gln) c.5338G>C (p.Glu1780Gln) n.5590G>C c.5491G>C (p.Glu1831Gln) c.4396G>C (p.Glu1466Gln) c.580G>C (p.Glu194Gln) c.133G>C (p.Glu45Gln) c.3985G>C (p.Glu1329Gln) n.5508G>C | |
| 5 | g.13841793C>T | CA359211641 | DNAH5 | c.5383G>A (p.Glu1795Lys) c.5338G>A (p.Glu1780Lys) n.5590G>A c.5491G>A (p.Glu1831Lys) c.4396G>A (p.Glu1466Lys) c.580G>A (p.Glu194Lys) c.133G>A (p.Glu45Lys) c.3985G>A (p.Glu1329Lys) n.5508G>A | COSMIC |
| 5 | g.13841794T>A | CA359211648 | DNAH5 | c.5382A>T (p.Glu1794Asp) c.5337A>T (p.Glu1779Asp) n.5589A>T c.5490A>T (p.Glu1830Asp) c.4395A>T (p.Glu1465Asp) c.579A>T (p.Glu193Asp) c.132A>T (p.Glu44Asp) c.3984A>T (p.Glu1328Asp) n.5507A>T | |
| 5 | g.13841794T>C | CA443256316 | DNAH5 | c.5382A>G (p.Glu1794=) c.5337A>G (p.Glu1779=) n.5589A>G c.5490A>G (p.Glu1830=) c.4395A>G (p.Glu1465=) c.579A>G (p.Glu193=) c.132A>G (p.Glu44=) c.3984A>G (p.Glu1328=) n.5507A>G | ClinVar dbSNP gnomAD v4 |
| 5 | g.13841794T>G | CA359211650 | DNAH5 | c.5382A>C (p.Glu1794Asp) c.5337A>C (p.Glu1779Asp) n.5589A>C c.5490A>C (p.Glu1830Asp) c.4395A>C (p.Glu1465Asp) c.579A>C (p.Glu193Asp) c.132A>C (p.Glu44Asp) c.3984A>C (p.Glu1328Asp) n.5507A>C | |
| 5 | g.13841794T= | CA1528458388 | DNAH5 | c.5382A= (p.Glu1794=) c.5337A= (p.Glu1779=) n.5589A= c.5490A= (p.Glu1830=) c.4395A= (p.Glu1465=) c.579A= (p.Glu193=) c.132A= (p.Glu44=) c.3984A= (p.Glu1328=) n.5507A= | |
| 5 | g.13841795T>A | CA359211652 | DNAH5 | c.5381A>T (p.Glu1794Val) c.5336A>T (p.Glu1779Val) n.5588A>T c.5489A>T (p.Glu1830Val) c.4394A>T (p.Glu1465Val) c.578A>T (p.Glu193Val) c.131A>T (p.Glu44Val) c.3983A>T (p.Glu1328Val) n.5506A>T | |
| 5 | g.13841795T>C | CA359211655 | DNAH5 | c.5381A>G (p.Glu1794Gly) c.5336A>G (p.Glu1779Gly) n.5588A>G c.5489A>G (p.Glu1830Gly) c.4394A>G (p.Glu1465Gly) c.578A>G (p.Glu193Gly) c.131A>G (p.Glu44Gly) c.3983A>G (p.Glu1328Gly) n.5506A>G | |
| 5 | g.13841795T>G | CA359211657 | DNAH5 | c.5381A>C (p.Glu1794Ala) c.5336A>C (p.Glu1779Ala) n.5588A>C c.5489A>C (p.Glu1830Ala) c.4394A>C (p.Glu1465Ala) c.578A>C (p.Glu193Ala) c.131A>C (p.Glu44Ala) c.3983A>C (p.Glu1328Ala) n.5506A>C | |
| 5 | g.13841796C>A | CA359211665 | DNAH5 | c.5380G>T (p.Glu1794Ter) c.5335G>T (p.Glu1779Ter) n.5587G>T c.5488G>T (p.Glu1830Ter) c.4393G>T (p.Glu1465Ter) c.577G>T (p.Glu193Ter) c.130G>T (p.Glu44Ter) c.3982G>T (p.Glu1328Ter) n.5505G>T | |
| 5 | g.13841796C>G | CA359211667 | DNAH5 | c.5380G>C (p.Glu1794Gln) c.5335G>C (p.Glu1779Gln) n.5587G>C c.5488G>C (p.Glu1830Gln) c.4393G>C (p.Glu1465Gln) c.577G>C (p.Glu193Gln) c.130G>C (p.Glu44Gln) c.3982G>C (p.Glu1328Gln) n.5505G>C | COSMIC |
| 5 | g.13841796C>T | CA359211669 | DNAH5 | c.5380G>A (p.Glu1794Lys) c.5335G>A (p.Glu1779Lys) n.5587G>A c.5488G>A (p.Glu1830Lys) c.4393G>A (p.Glu1465Lys) c.577G>A (p.Glu193Lys) c.130G>A (p.Glu44Lys) c.3982G>A (p.Glu1328Lys) n.5505G>A | |
| 5 | g.13841797C>A | CA359211672 | DNAH5 | c.5379G>T (p.Leu1793Phe) c.5334G>T (p.Leu1778Phe) n.5586G>T c.5487G>T (p.Leu1829Phe) c.4392G>T (p.Leu1464Phe) c.576G>T (p.Leu192Phe) c.129G>T (p.Leu43Phe) c.3981G>T (p.Leu1327Phe) n.5504G>T | |
| 5 | g.13841797C>G | CA359211674 | DNAH5 | c.5379G>C (p.Leu1793Phe) c.5334G>C (p.Leu1778Phe) n.5586G>C c.5487G>C (p.Leu1829Phe) c.4392G>C (p.Leu1464Phe) c.576G>C (p.Leu192Phe) c.129G>C (p.Leu43Phe) c.3981G>C (p.Leu1327Phe) n.5504G>C | |
| 5 | g.13841797C>T | CA443256327 | DNAH5 | c.5379G>A (p.Leu1793=) c.5334G>A (p.Leu1778=) n.5586G>A c.5487G>A (p.Leu1829=) c.4392G>A (p.Leu1464=) c.576G>A (p.Leu192=) c.129G>A (p.Leu43=) c.3981G>A (p.Leu1327=) n.5504G>A | |
| 5 | g.13841798A>C | CA359211678 | DNAH5 | c.5378T>G (p.Leu1793Trp) c.5333T>G (p.Leu1778Trp) n.5585T>G c.5486T>G (p.Leu1829Trp) c.4391T>G (p.Leu1464Trp) c.575T>G (p.Leu192Trp) c.128T>G (p.Leu43Trp) c.3980T>G (p.Leu1327Trp) n.5503T>G | gnomAD v4 |
| 5 | g.13841798A>G | CA359211687 | DNAH5 | c.5378T>C (p.Leu1793Ser) c.5333T>C (p.Leu1778Ser) n.5585T>C c.5486T>C (p.Leu1829Ser) c.4391T>C (p.Leu1464Ser) c.575T>C (p.Leu192Ser) c.128T>C (p.Leu43Ser) c.3980T>C (p.Leu1327Ser) n.5503T>C | |
| 5 | g.13841798A>T | CA359211676 | DNAH5 | c.5378T>A (p.Leu1793Ter) c.5333T>A (p.Leu1778Ter) n.5585T>A c.5486T>A (p.Leu1829Ter) c.4391T>A (p.Leu1464Ter) c.575T>A (p.Leu192Ter) c.128T>A (p.Leu43Ter) c.3980T>A (p.Leu1327Ter) n.5503T>A | |
| 5 | g.13841799A= | CA1528458389 | DNAH5 | c.5377T= (p.Leu1793=) c.5332T= (p.Leu1778=) n.5584T= c.5485T= (p.Leu1829=) c.4390T= (p.Leu1464=) c.574T= (p.Leu192=) c.127T= (p.Leu43=) c.3979T= (p.Leu1327=) n.5502T= | |
| 5 | g.13841799A>C | CA359211689 | DNAH5 | c.5377T>G (p.Leu1793Val) c.5332T>G (p.Leu1778Val) n.5584T>G c.5485T>G (p.Leu1829Val) c.4390T>G (p.Leu1464Val) c.574T>G (p.Leu192Val) c.127T>G (p.Leu43Val) c.3979T>G (p.Leu1327Val) n.5502T>G | |
| 5 | g.13841799A>G | CA3203686 | DNAH5 | c.5377T>C (p.Leu1793=) c.5332T>C (p.Leu1778=) n.5584T>C c.5485T>C (p.Leu1829=) c.4390T>C (p.Leu1464=) c.574T>C (p.Leu192=) c.127T>C (p.Leu43=) c.3979T>C (p.Leu1327=) n.5502T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13841799A>T | CA359211695 | DNAH5 | c.5377T>A (p.Leu1793Met) c.5332T>A (p.Leu1778Met) n.5584T>A c.5485T>A (p.Leu1829Met) c.4390T>A (p.Leu1464Met) c.574T>A (p.Leu192Met) c.127T>A (p.Leu43Met) c.3979T>A (p.Leu1327Met) n.5502T>A | |
| 5 | g.13841800A>C | CA443256335 | DNAH5 | c.5376T>G (p.Leu1792=) c.5331T>G (p.Leu1777=) n.5583T>G c.5484T>G (p.Leu1828=) c.4389T>G (p.Leu1463=) c.573T>G (p.Leu191=) c.126T>G (p.Leu42=) c.3978T>G (p.Leu1326=) n.5501T>G | |
| 5 | g.13841800A>G | CA443256336 | DNAH5 | c.5376T>C (p.Leu1792=) c.5331T>C (p.Leu1777=) n.5583T>C c.5484T>C (p.Leu1828=) c.4389T>C (p.Leu1463=) c.573T>C (p.Leu191=) c.126T>C (p.Leu42=) c.3978T>C (p.Leu1326=) n.5501T>C | COSMIC |
| 5 | g.13841800A>T | CA443256342 | DNAH5 | c.5376T>A (p.Leu1792=) c.5331T>A (p.Leu1777=) n.5583T>A c.5484T>A (p.Leu1828=) c.4389T>A (p.Leu1463=) c.573T>A (p.Leu191=) c.126T>A (p.Leu42=) c.3978T>A (p.Leu1326=) n.5501T>A | |
| 5 | g.13841801A>C | CA359211701 | DNAH5 | c.5375T>G (p.Leu1792Arg) c.5330T>G (p.Leu1777Arg) n.5582T>G c.5483T>G (p.Leu1828Arg) c.4388T>G (p.Leu1463Arg) c.572T>G (p.Leu191Arg) c.125T>G (p.Leu42Arg) c.3977T>G (p.Leu1326Arg) n.5500T>G | |
| 5 | g.13841801A>G | CA359211702 | DNAH5 | c.5375T>C (p.Leu1792Pro) c.5330T>C (p.Leu1777Pro) n.5582T>C c.5483T>C (p.Leu1828Pro) c.4388T>C (p.Leu1463Pro) c.572T>C (p.Leu191Pro) c.125T>C (p.Leu42Pro) c.3977T>C (p.Leu1326Pro) n.5500T>C | |
| 5 | g.13841801A>T | CA359211705 | DNAH5 | c.5375T>A (p.Leu1792His) c.5330T>A (p.Leu1777His) n.5582T>A c.5483T>A (p.Leu1828His) c.4388T>A (p.Leu1463His) c.572T>A (p.Leu191His) c.125T>A (p.Leu42His) c.3977T>A (p.Leu1326His) n.5500T>A | |
| 5 | g.13841802G>A | CA3203687 | DNAH5 | c.5374C>T (p.Leu1792Phe) c.5329C>T (p.Leu1777Phe) n.5581C>T c.5482C>T (p.Leu1828Phe) c.4387C>T (p.Leu1463Phe) c.571C>T (p.Leu191Phe) c.124C>T (p.Leu42Phe) c.3976C>T (p.Leu1326Phe) n.5499C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13841802G>C | CA359211713 | DNAH5 | c.5374C>G (p.Leu1792Val) c.5329C>G (p.Leu1777Val) n.5581C>G c.5482C>G (p.Leu1828Val) c.4387C>G (p.Leu1463Val) c.571C>G (p.Leu191Val) c.124C>G (p.Leu42Val) c.3976C>G (p.Leu1326Val) n.5499C>G | |
| 5 | g.13841802G= | CA1528458391 | DNAH5 | c.5374C= (p.Leu1792=) c.5329C= (p.Leu1777=) n.5581C= c.5482C= (p.Leu1828=) c.4387C= (p.Leu1463=) c.571C= (p.Leu191=) c.124C= (p.Leu42=) c.3976C= (p.Leu1326=) n.5499C= | |
| 5 | g.13841802G>T | CA359211716 | DNAH5 | c.5374C>A (p.Leu1792Ile) c.5329C>A (p.Leu1777Ile) n.5581C>A c.5482C>A (p.Leu1828Ile) c.4387C>A (p.Leu1463Ile) c.571C>A (p.Leu191Ile) c.124C>A (p.Leu42Ile) c.3976C>A (p.Leu1326Ile) n.5499C>A | |
| 5 | g.13841803A= | CA1528458393 | DNAH5 | c.5373T= (p.Ser1791=) c.5328T= (p.Ser1776=) n.5580T= c.5481T= (p.Ser1827=) c.4386T= (p.Ser1462=) c.570T= (p.Ser190=) c.123T= (p.Ser41=) c.3975T= (p.Ser1325=) n.5498T= | |
| 5 | g.13841803A>C | CA443256351 | DNAH5 | c.5373T>G (p.Ser1791=) c.5328T>G (p.Ser1776=) n.5580T>G c.5481T>G (p.Ser1827=) c.4386T>G (p.Ser1462=) c.570T>G (p.Ser190=) c.123T>G (p.Ser41=) c.3975T>G (p.Ser1325=) n.5498T>G | dbSNP gnomAD v4 |
| 5 | g.13841803A>G | CA443256349 | DNAH5 | c.5373T>C (p.Ser1791=) c.5328T>C (p.Ser1776=) n.5580T>C c.5481T>C (p.Ser1827=) c.4386T>C (p.Ser1462=) c.570T>C (p.Ser190=) c.123T>C (p.Ser41=) c.3975T>C (p.Ser1325=) n.5498T>C | ClinVar |
| 5 | g.13841803A>T | CA443256350 | DNAH5 | c.5373T>A (p.Ser1791=) c.5328T>A (p.Ser1776=) n.5580T>A c.5481T>A (p.Ser1827=) c.4386T>A (p.Ser1462=) c.570T>A (p.Ser190=) c.123T>A (p.Ser41=) c.3975T>A (p.Ser1325=) n.5498T>A | |
| 5 | g.13841804G>A | CA359211719 | DNAH5 | c.5372C>T (p.Ser1791Phe) c.5327C>T (p.Ser1776Phe) n.5579C>T c.5480C>T (p.Ser1827Phe) c.4385C>T (p.Ser1462Phe) c.569C>T (p.Ser190Phe) c.122C>T (p.Ser41Phe) c.3974C>T (p.Ser1325Phe) n.5497C>T | gnomAD v4 |
| 5 | g.13841804G>C | CA359211720 | DNAH5 | c.5372C>G (p.Ser1791Cys) c.5327C>G (p.Ser1776Cys) n.5579C>G c.5480C>G (p.Ser1827Cys) c.4385C>G (p.Ser1462Cys) c.569C>G (p.Ser190Cys) c.122C>G (p.Ser41Cys) c.3974C>G (p.Ser1325Cys) n.5497C>G | |
| 5 | g.13841804G>T | CA359211724 | DNAH5 | c.5372C>A (p.Ser1791Tyr) c.5327C>A (p.Ser1776Tyr) n.5579C>A c.5480C>A (p.Ser1827Tyr) c.4385C>A (p.Ser1462Tyr) c.569C>A (p.Ser190Tyr) c.122C>A (p.Ser41Tyr) c.3974C>A (p.Ser1325Tyr) n.5497C>A | gnomAD v4 |
| 5 | g.13841805A>C | CA359211733 | DNAH5 | c.5371T>G (p.Ser1791Ala) c.5326T>G (p.Ser1776Ala) n.5578T>G c.5479T>G (p.Ser1827Ala) c.4384T>G (p.Ser1462Ala) c.568T>G (p.Ser190Ala) c.121T>G (p.Ser41Ala) c.3973T>G (p.Ser1325Ala) n.5496T>G | |
| 5 | g.13841805A>G | CA359211727 | DNAH5 | c.5371T>C (p.Ser1791Pro) c.5326T>C (p.Ser1776Pro) n.5578T>C c.5479T>C (p.Ser1827Pro) c.4384T>C (p.Ser1462Pro) c.568T>C (p.Ser190Pro) c.121T>C (p.Ser41Pro) c.3973T>C (p.Ser1325Pro) n.5496T>C | |
| 5 | g.13841805A>T | CA359211729 | DNAH5 | c.5371T>A (p.Ser1791Thr) c.5326T>A (p.Ser1776Thr) n.5578T>A c.5479T>A (p.Ser1827Thr) c.4384T>A (p.Ser1462Thr) c.568T>A (p.Ser190Thr) c.121T>A (p.Ser41Thr) c.3973T>A (p.Ser1325Thr) n.5496T>A | gnomAD v4 |
| 5 | g.13841807_13841810del | CA2673274330 | DNAH5 | c.5368_5371del (p.Asn1790LeufsTer13) c.5323_5326del (p.Asn1775LeufsTer13) n.5575_5578del c.5476_5479del (p.Asn1826LeufsTer13) c.4381_4384del (p.Asn1461LeufsTer13) c.565_568del (p.Asn189LeufsTer13) c.118_121del (p.Asn40LeufsTer13) c.3970_3973del (p.Asn1324LeufsTer13) n.5493_5496del | gnomAD v4 |
| 5 | g.13841806A>C | CA359211735 | DNAH5 | c.5370T>G (p.Asn1790Lys) c.5325T>G (p.Asn1775Lys) n.5577T>G c.5478T>G (p.Asn1826Lys) c.4383T>G (p.Asn1461Lys) c.567T>G (p.Asn189Lys) c.120T>G (p.Asn40Lys) c.3972T>G (p.Asn1324Lys) n.5495T>G | gnomAD v4 |
| 5 | g.13841806A>G | CA443256361 | DNAH5 | c.5370T>C (p.Asn1790=) c.5325T>C (p.Asn1775=) n.5577T>C c.5478T>C (p.Asn1826=) c.4383T>C (p.Asn1461=) c.567T>C (p.Asn189=) c.120T>C (p.Asn40=) c.3972T>C (p.Asn1324=) n.5495T>C | |
| 5 | g.13841806A>T | CA359211736 | DNAH5 | c.5370T>A (p.Asn1790Lys) c.5325T>A (p.Asn1775Lys) n.5577T>A c.5478T>A (p.Asn1826Lys) c.4383T>A (p.Asn1461Lys) c.567T>A (p.Asn189Lys) c.120T>A (p.Asn40Lys) c.3972T>A (p.Asn1324Lys) n.5495T>A | |
| 5 | g.13841807T>A | CA359211737 | DNAH5 | c.5369A>T (p.Asn1790Ile) c.5324A>T (p.Asn1775Ile) n.5576A>T c.5477A>T (p.Asn1826Ile) c.4382A>T (p.Asn1461Ile) c.566A>T (p.Asn189Ile) c.119A>T (p.Asn40Ile) c.3971A>T (p.Asn1324Ile) n.5494A>T | |
| 5 | g.13841807T>C | CA359211738 | DNAH5 | c.5369A>G (p.Asn1790Ser) c.5324A>G (p.Asn1775Ser) n.5576A>G c.5477A>G (p.Asn1826Ser) c.4382A>G (p.Asn1461Ser) c.566A>G (p.Asn189Ser) c.119A>G (p.Asn40Ser) c.3971A>G (p.Asn1324Ser) n.5494A>G | |
| 5 | g.13841807T>G | CA359211739 | DNAH5 | c.5369A>C (p.Asn1790Thr) c.5324A>C (p.Asn1775Thr) n.5576A>C c.5477A>C (p.Asn1826Thr) c.4382A>C (p.Asn1461Thr) c.566A>C (p.Asn189Thr) c.119A>C (p.Asn40Thr) c.3971A>C (p.Asn1324Thr) n.5494A>C | COSMIC |
| 5 | g.13841808T>A | CA359211740 | DNAH5 | c.5368A>T (p.Asn1790Tyr) c.5323A>T (p.Asn1775Tyr) n.5575A>T c.5476A>T (p.Asn1826Tyr) c.4381A>T (p.Asn1461Tyr) c.565A>T (p.Asn189Tyr) c.118A>T (p.Asn40Tyr) c.3970A>T (p.Asn1324Tyr) n.5493A>T | |
| 5 | g.13841808T>C | CA359211743 | DNAH5 | c.5368A>G (p.Asn1790Asp) c.5323A>G (p.Asn1775Asp) n.5575A>G c.5476A>G (p.Asn1826Asp) c.4381A>G (p.Asn1461Asp) c.565A>G (p.Asn189Asp) c.118A>G (p.Asn40Asp) c.3970A>G (p.Asn1324Asp) n.5493A>G | |
| 5 | g.13841808T>G | CA359211744 | DNAH5 | c.5368A>C (p.Asn1790His) c.5323A>C (p.Asn1775His) n.5575A>C c.5476A>C (p.Asn1826His) c.4381A>C (p.Asn1461His) c.565A>C (p.Asn189His) c.118A>C (p.Asn40His) c.3970A>C (p.Asn1324His) n.5493A>C | |
| 5 | g.13841808_13841809delinsTA | CA1528458394 | DNAH5 | c.5367_5368delinsTA (p.Leu1789=) c.5322_5323delinsTA (p.Leu1774=) n.5574_5575delinsTA c.5475_5476delinsTA (p.Leu1825=) c.4380_4381delinsTA (p.Leu1460=) c.564_565delinsTA (p.Leu188=) c.117_118delinsTA (p.Leu39=) c.3969_3970delinsTA (p.Leu1323=) n.5492_5493delinsTA | |
| 5 | g.13841809A>C | CA443256377 | DNAH5 | c.5367T>G (p.Leu1789=) c.5322T>G (p.Leu1774=) n.5574T>G c.5475T>G (p.Leu1825=) c.4380T>G (p.Leu1460=) c.564T>G (p.Leu188=) c.117T>G (p.Leu39=) c.3969T>G (p.Leu1323=) n.5492T>G | ClinVar |
| 5 | g.13841809A>G | CA443256375 | DNAH5 | c.5367T>C (p.Leu1789=) c.5322T>C (p.Leu1774=) n.5574T>C c.5475T>C (p.Leu1825=) c.4380T>C (p.Leu1460=) c.564T>C (p.Leu188=) c.117T>C (p.Leu39=) c.3969T>C (p.Leu1323=) n.5492T>C | |
| 5 | g.13841809A>T | CA443256380 | DNAH5 | c.5367T>A (p.Leu1789=) c.5322T>A (p.Leu1774=) n.5574T>A c.5475T>A (p.Leu1825=) c.4380T>A (p.Leu1460=) c.564T>A (p.Leu188=) c.117T>A (p.Leu39=) c.3969T>A (p.Leu1323=) n.5492T>A | |
| 5 | g.13841810del | CA3203688 | DNAH5 | c.5367del (p.Asn1790IlefsTer14) c.5322del (p.Asn1775IlefsTer14) n.5574del c.5475del (p.Asn1826IlefsTer14) c.4380del (p.Asn1461IlefsTer14) c.564del (p.Asn189IlefsTer14) c.117del (p.Asn40IlefsTer14) c.3969del (p.Asn1324IlefsTer14) n.5492del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13841810A>C | CA359211747 | DNAH5 | c.5366T>G (p.Leu1789Arg) c.5321T>G (p.Leu1774Arg) n.5573T>G c.5474T>G (p.Leu1825Arg) c.4379T>G (p.Leu1460Arg) c.563T>G (p.Leu188Arg) c.116T>G (p.Leu39Arg) c.3968T>G (p.Leu1323Arg) n.5491T>G | |
| 5 | g.13841810A>G | CA359211750 | DNAH5 | c.5366T>C (p.Leu1789Pro) c.5321T>C (p.Leu1774Pro) n.5573T>C c.5474T>C (p.Leu1825Pro) c.4379T>C (p.Leu1460Pro) c.563T>C (p.Leu188Pro) c.116T>C (p.Leu39Pro) c.3968T>C (p.Leu1323Pro) n.5491T>C | |
| 5 | g.13841810A>T | CA359211757 | DNAH5 | c.5366T>A (p.Leu1789His) c.5321T>A (p.Leu1774His) n.5573T>A c.5474T>A (p.Leu1825His) c.4379T>A (p.Leu1460His) c.563T>A (p.Leu188His) c.116T>A (p.Leu39His) c.3968T>A (p.Leu1323His) n.5491T>A | |
| 5 | g.13841811G>A | CA3203689 | DNAH5 | c.5365C>T (p.Leu1789Phe) c.5320C>T (p.Leu1774Phe) n.5572C>T c.5473C>T (p.Leu1825Phe) c.4378C>T (p.Leu1460Phe) c.562C>T (p.Leu188Phe) c.115C>T (p.Leu39Phe) c.3967C>T (p.Leu1323Phe) n.5490C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13841811G>C | CA359211765 | DNAH5 | c.5365C>G (p.Leu1789Val) c.5320C>G (p.Leu1774Val) n.5572C>G c.5473C>G (p.Leu1825Val) c.4378C>G (p.Leu1460Val) c.562C>G (p.Leu188Val) c.115C>G (p.Leu39Val) c.3967C>G (p.Leu1323Val) n.5490C>G | |
| 5 | g.13841811G= | CA1528458396 | DNAH5 | c.5365C= (p.Leu1789=) c.5320C= (p.Leu1774=) n.5572C= c.5473C= (p.Leu1825=) c.4378C= (p.Leu1460=) c.562C= (p.Leu188=) c.115C= (p.Leu39=) c.3967C= (p.Leu1323=) n.5490C= | |
| 5 | g.13841811G>T | CA359211759 | DNAH5 | c.5365C>A (p.Leu1789Ile) c.5320C>A (p.Leu1774Ile) n.5572C>A c.5473C>A (p.Leu1825Ile) c.4378C>A (p.Leu1460Ile) c.562C>A (p.Leu188Ile) c.115C>A (p.Leu39Ile) c.3967C>A (p.Leu1323Ile) n.5490C>A | |
| 5 | g.13841812C>A | CA359211777 | DNAH5 | c.5364G>T (p.Trp1788Cys) c.5319G>T (p.Trp1773Cys) n.5571G>T c.5472G>T (p.Trp1824Cys) c.4377G>T (p.Trp1459Cys) c.561G>T (p.Trp187Cys) c.114G>T (p.Trp38Cys) c.3966G>T (p.Trp1322Cys) n.5489G>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13841812C= | CA1528458398 | DNAH5 | c.5364G= (p.Trp1788=) c.5319G= (p.Trp1773=) n.5571G= c.5472G= (p.Trp1824=) c.4377G= (p.Trp1459=) c.561G= (p.Trp187=) c.114G= (p.Trp38=) c.3966G= (p.Trp1322=) n.5489G= | |
| 5 | g.13841812C>G | CA359211780 | DNAH5 | c.5364G>C (p.Trp1788Cys) c.5319G>C (p.Trp1773Cys) n.5571G>C c.5472G>C (p.Trp1824Cys) c.4377G>C (p.Trp1459Cys) c.561G>C (p.Trp187Cys) c.114G>C (p.Trp38Cys) c.3966G>C (p.Trp1322Cys) n.5489G>C | |
| 5 | g.13841812C>T | CA359211778 | DNAH5 | c.5364G>A (p.Trp1788Ter) c.5319G>A (p.Trp1773Ter) n.5571G>A c.5472G>A (p.Trp1824Ter) c.4377G>A (p.Trp1459Ter) c.561G>A (p.Trp187Ter) c.114G>A (p.Trp38Ter) c.3966G>A (p.Trp1322Ter) n.5489G>A | |
| 5 | g.13841813C>A | CA359211783 | DNAH5 | c.5363G>T (p.Trp1788Leu) c.5318G>T (p.Trp1773Leu) n.5570G>T c.5471G>T (p.Trp1824Leu) c.4376G>T (p.Trp1459Leu) c.560G>T (p.Trp187Leu) c.113G>T (p.Trp38Leu) c.3965G>T (p.Trp1322Leu) n.5488G>T | |
| 5 | g.13841813C>G | CA359211786 | DNAH5 | c.5363G>C (p.Trp1788Ser) c.5318G>C (p.Trp1773Ser) n.5570G>C c.5471G>C (p.Trp1824Ser) c.4376G>C (p.Trp1459Ser) c.560G>C (p.Trp187Ser) c.113G>C (p.Trp38Ser) c.3965G>C (p.Trp1322Ser) n.5488G>C | |
| 5 | g.13841813C>T | CA359211787 | DNAH5 | c.5363G>A (p.Trp1788Ter) c.5318G>A (p.Trp1773Ter) n.5570G>A c.5471G>A (p.Trp1824Ter) c.4376G>A (p.Trp1459Ter) c.560G>A (p.Trp187Ter) c.113G>A (p.Trp38Ter) c.3965G>A (p.Trp1322Ter) n.5488G>A | |
| 5 | g.13841814A>C | CA359211790 | DNAH5 | c.5362T>G (p.Trp1788Gly) c.5317T>G (p.Trp1773Gly) n.5569T>G c.5470T>G (p.Trp1824Gly) c.4375T>G (p.Trp1459Gly) c.559T>G (p.Trp187Gly) c.112T>G (p.Trp38Gly) c.3964T>G (p.Trp1322Gly) n.5487T>G | |
| 5 | g.13841814A>G | CA359211793 | DNAH5 | c.5362T>C (p.Trp1788Arg) c.5317T>C (p.Trp1773Arg) n.5569T>C c.5470T>C (p.Trp1824Arg) c.4375T>C (p.Trp1459Arg) c.559T>C (p.Trp187Arg) c.112T>C (p.Trp38Arg) c.3964T>C (p.Trp1322Arg) n.5487T>C | gnomAD v4 |
| 5 | g.13841814A>T | CA359211794 | DNAH5 | c.5362T>A (p.Trp1788Arg) c.5317T>A (p.Trp1773Arg) n.5569T>A c.5470T>A (p.Trp1824Arg) c.4375T>A (p.Trp1459Arg) c.559T>A (p.Trp187Arg) c.112T>A (p.Trp38Arg) c.3964T>A (p.Trp1322Arg) n.5487T>A | |
| 5 | g.13841815A>C | CA443256390 | DNAH5 | c.5361T>G (p.Val1787=) c.5316T>G (p.Val1772=) n.5568T>G c.5469T>G (p.Val1823=) c.4374T>G (p.Val1458=) c.558T>G (p.Val186=) c.111T>G (p.Val37=) c.3963T>G (p.Val1321=) n.5486T>G | |
| 5 | g.13841815A>G | CA443256394 | DNAH5 | c.5361T>C (p.Val1787=) c.5316T>C (p.Val1772=) n.5568T>C c.5469T>C (p.Val1823=) c.4374T>C (p.Val1458=) c.558T>C (p.Val186=) c.111T>C (p.Val37=) c.3963T>C (p.Val1321=) n.5486T>C | ClinVar |
| 5 | g.13841815A>T | CA443256392 | DNAH5 | c.5361T>A (p.Val1787=) c.5316T>A (p.Val1772=) n.5568T>A c.5469T>A (p.Val1823=) c.4374T>A (p.Val1458=) c.558T>A (p.Val186=) c.111T>A (p.Val37=) c.3963T>A (p.Val1321=) n.5486T>A | |
| 5 | g.13841815_13841816insGTTTGAT | CA2580072090 | DNAH5 | c.5360_5361insATCAAAC (p.Trp1788SerfsTer5) c.5315_5316insATCAAAC (p.Trp1773SerfsTer5) n.5567_5568insATCAAAC c.5468_5469insATCAAAC (p.Trp1824SerfsTer5) c.4373_4374insATCAAAC (p.Trp1459SerfsTer5) c.557_558insATCAAAC (p.Trp187SerfsTer5) c.110_111insATCAAAC (p.Trp38SerfsTer5) c.3962_3963insATCAAAC (p.Trp1322SerfsTer5) n.5485_5486insATCAAAC | ClinVar |
| 5 | g.13841816A>C | CA359211797 | DNAH5 | c.5360T>G (p.Val1787Gly) c.5315T>G (p.Val1772Gly) n.5567T>G c.5468T>G (p.Val1823Gly) c.4373T>G (p.Val1458Gly) c.557T>G (p.Val186Gly) c.110T>G (p.Val37Gly) c.3962T>G (p.Val1321Gly) n.5485T>G | |
| 5 | g.13841816A>G | CA359211796 | DNAH5 | c.5360T>C (p.Val1787Ala) c.5315T>C (p.Val1772Ala) n.5567T>C c.5468T>C (p.Val1823Ala) c.4373T>C (p.Val1458Ala) c.557T>C (p.Val186Ala) c.110T>C (p.Val37Ala) c.3962T>C (p.Val1321Ala) n.5485T>C | |
| 5 | g.13841816A>T | CA359211795 | DNAH5 | c.5360T>A (p.Val1787Asp) c.5315T>A (p.Val1772Asp) n.5567T>A c.5468T>A (p.Val1823Asp) c.4373T>A (p.Val1458Asp) c.557T>A (p.Val186Asp) c.110T>A (p.Val37Asp) c.3962T>A (p.Val1321Asp) n.5485T>A | |
| 5 | g.13841817C>A | CA359211798 | DNAH5 | c.5359G>T (p.Val1787Phe) c.5314G>T (p.Val1772Phe) n.5566G>T c.5467G>T (p.Val1823Phe) c.4372G>T (p.Val1458Phe) c.556G>T (p.Val186Phe) c.109G>T (p.Val37Phe) c.3961G>T (p.Val1321Phe) n.5484G>T | |
| 5 | g.13841817C= | CA1528458399 | DNAH5 | c.5359G= (p.Val1787=) c.5314G= (p.Val1772=) n.5566G= c.5467G= (p.Val1823=) c.4372G= (p.Val1458=) c.556G= (p.Val186=) c.109G= (p.Val37=) c.3961G= (p.Val1321=) n.5484G= | |
| 5 | g.13841817C>G | CA359211800 | DNAH5 | c.5359G>C (p.Val1787Leu) c.5314G>C (p.Val1772Leu) n.5566G>C c.5467G>C (p.Val1823Leu) c.4372G>C (p.Val1458Leu) c.556G>C (p.Val186Leu) c.109G>C (p.Val37Leu) c.3961G>C (p.Val1321Leu) n.5484G>C | |
| 5 | g.13841817C>T | CA359211802 | DNAH5 | c.5359G>A (p.Val1787Ile) c.5314G>A (p.Val1772Ile) n.5566G>A c.5467G>A (p.Val1823Ile) c.4372G>A (p.Val1458Ile) c.556G>A (p.Val186Ile) c.109G>A (p.Val37Ile) c.3961G>A (p.Val1321Ile) n.5484G>A | dbSNP gnomAD v2 |
| 5 | g.13841818T>A | CA359211804 | DNAH5 | c.5358A>T (p.Glu1786Asp) c.5313A>T (p.Glu1771Asp) n.5565A>T c.5466A>T (p.Glu1822Asp) c.4371A>T (p.Glu1457Asp) c.555A>T (p.Glu185Asp) c.108A>T (p.Glu36Asp) c.3960A>T (p.Glu1320Asp) n.5483A>T | |
| 5 | g.13841818T>C | CA3203690 | DNAH5 | c.5358A>G (p.Glu1786=) c.5313A>G (p.Glu1771=) n.5565A>G c.5466A>G (p.Glu1822=) c.4371A>G (p.Glu1457=) c.555A>G (p.Glu185=) c.108A>G (p.Glu36=) c.3960A>G (p.Glu1320=) n.5483A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13841818T>G | CA359211808 | DNAH5 | c.5358A>C (p.Glu1786Asp) c.5313A>C (p.Glu1771Asp) n.5565A>C c.5466A>C (p.Glu1822Asp) c.4371A>C (p.Glu1457Asp) c.555A>C (p.Glu185Asp) c.108A>C (p.Glu36Asp) c.3960A>C (p.Glu1320Asp) n.5483A>C | COSMIC |
| 5 | g.13841818T= | CA1528458402 | DNAH5 | c.5358A= (p.Glu1786=) c.5313A= (p.Glu1771=) n.5565A= c.5466A= (p.Glu1822=) c.4371A= (p.Glu1457=) c.555A= (p.Glu185=) c.108A= (p.Glu36=) c.3960A= (p.Glu1320=) n.5483A= | |
| 5 | g.13841819T>A | CA359211810 | DNAH5 | c.5357A>T (p.Glu1786Val) c.5312A>T (p.Glu1771Val) n.5564A>T c.5465A>T (p.Glu1822Val) c.4370A>T (p.Glu1457Val) c.554A>T (p.Glu185Val) c.107A>T (p.Glu36Val) c.3959A>T (p.Glu1320Val) n.5482A>T | |
| 5 | g.13841819T>C | CA359211813 | DNAH5 | c.5357A>G (p.Glu1786Gly) c.5312A>G (p.Glu1771Gly) n.5564A>G c.5465A>G (p.Glu1822Gly) c.4370A>G (p.Glu1457Gly) c.554A>G (p.Glu185Gly) c.107A>G (p.Glu36Gly) c.3959A>G (p.Glu1320Gly) n.5482A>G | |
| 5 | g.13841819T>G | CA359211812 | DNAH5 | c.5357A>C (p.Glu1786Ala) c.5312A>C (p.Glu1771Ala) n.5564A>C c.5465A>C (p.Glu1822Ala) c.4370A>C (p.Glu1457Ala) c.554A>C (p.Glu185Ala) c.107A>C (p.Glu36Ala) c.3959A>C (p.Glu1320Ala) n.5482A>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13841819T= | CA1528458403 | DNAH5 | c.5357A= (p.Glu1786=) c.5312A= (p.Glu1771=) n.5564A= c.5465A= (p.Glu1822=) c.4370A= (p.Glu1457=) c.554A= (p.Glu185=) c.107A= (p.Glu36=) c.3959A= (p.Glu1320=) n.5482A= | |
| 5 | g.13841820C>A | CA359211816 | DNAH5 | c.5356G>T (p.Glu1786Ter) c.5311G>T (p.Glu1771Ter) n.5563G>T c.5464G>T (p.Glu1822Ter) c.4369G>T (p.Glu1457Ter) c.553G>T (p.Glu185Ter) c.106G>T (p.Glu36Ter) c.3958G>T (p.Glu1320Ter) n.5481G>T | |
| 5 | g.13841820C>G | CA359211819 | DNAH5 | c.5356G>C (p.Glu1786Gln) c.5311G>C (p.Glu1771Gln) n.5563G>C c.5464G>C (p.Glu1822Gln) c.4369G>C (p.Glu1457Gln) c.553G>C (p.Glu185Gln) c.106G>C (p.Glu36Gln) c.3958G>C (p.Glu1320Gln) n.5481G>C | |
| 5 | g.13841820C>T | CA359211820 | DNAH5 | c.5356G>A (p.Glu1786Lys) c.5311G>A (p.Glu1771Lys) n.5563G>A c.5464G>A (p.Glu1822Lys) c.4369G>A (p.Glu1457Lys) c.553G>A (p.Glu185Lys) c.106G>A (p.Glu36Lys) c.3958G>A (p.Glu1320Lys) n.5481G>A | |
| 5 | g.13841821C>A | CA443256408 | DNAH5 | c.5355G>T (p.Val1785=) c.5310G>T (p.Val1770=) n.5562G>T c.5463G>T (p.Val1821=) c.4368G>T (p.Val1456=) c.552G>T (p.Val184=) c.105G>T (p.Val35=) c.3957G>T (p.Val1319=) n.5480G>T | |
| 5 | g.13841821C>G | CA443256409 | DNAH5 | c.5355G>C (p.Val1785=) c.5310G>C (p.Val1770=) n.5562G>C c.5463G>C (p.Val1821=) c.4368G>C (p.Val1456=) c.552G>C (p.Val184=) c.105G>C (p.Val35=) c.3957G>C (p.Val1319=) n.5480G>C | |
| 5 | g.13841821C>T | CA443256410 | DNAH5 | c.5355G>A (p.Val1785=) c.5310G>A (p.Val1770=) n.5562G>A c.5463G>A (p.Val1821=) c.4368G>A (p.Val1456=) c.552G>A (p.Val184=) c.105G>A (p.Val35=) c.3957G>A (p.Val1319=) n.5480G>A | gnomAD v4 |
| 5 | g.13841822A>C | CA359211821 | DNAH5 | c.5354T>G (p.Val1785Gly) c.5309T>G (p.Val1770Gly) n.5561T>G c.5462T>G (p.Val1821Gly) c.4367T>G (p.Val1456Gly) c.551T>G (p.Val184Gly) c.104T>G (p.Val35Gly) c.3956T>G (p.Val1319Gly) n.5479T>G | |
| 5 | g.13841822A>G | CA359211823 | DNAH5 | c.5354T>C (p.Val1785Ala) c.5309T>C (p.Val1770Ala) n.5561T>C c.5462T>C (p.Val1821Ala) c.4367T>C (p.Val1456Ala) c.551T>C (p.Val184Ala) c.104T>C (p.Val35Ala) c.3956T>C (p.Val1319Ala) n.5479T>C | |
| 5 | g.13841822A>T | CA359211826 | DNAH5 | c.5354T>A (p.Val1785Glu) c.5309T>A (p.Val1770Glu) n.5561T>A c.5462T>A (p.Val1821Glu) c.4367T>A (p.Val1456Glu) c.551T>A (p.Val184Glu) c.104T>A (p.Val35Glu) c.3956T>A (p.Val1319Glu) n.5479T>A | |
| 5 | g.13841823C>A | CA359211827 | DNAH5 | c.5353G>T (p.Val1785Leu) c.5308G>T (p.Val1770Leu) n.5560G>T c.5461G>T (p.Val1821Leu) c.4366G>T (p.Val1456Leu) c.550G>T (p.Val184Leu) c.103G>T (p.Val35Leu) c.3955G>T (p.Val1319Leu) n.5478G>T | gnomAD v4 |
| 5 | g.13841823C>G | CA359211828 | DNAH5 | c.5353G>C (p.Val1785Leu) c.5308G>C (p.Val1770Leu) n.5560G>C c.5461G>C (p.Val1821Leu) c.4366G>C (p.Val1456Leu) c.550G>C (p.Val184Leu) c.103G>C (p.Val35Leu) c.3955G>C (p.Val1319Leu) n.5478G>C | |
| 5 | g.13841823C>T | CA359211829 | DNAH5 | c.5353G>A (p.Val1785Met) c.5308G>A (p.Val1770Met) n.5560G>A c.5461G>A (p.Val1821Met) c.4366G>A (p.Val1456Met) c.550G>A (p.Val184Met) c.103G>A (p.Val35Met) c.3955G>A (p.Val1319Met) n.5478G>A | gnomAD v4 |
| 5 | g.13841824A= | CA1528458404 | DNAH5 | c.5352T= (p.Asn1784=) c.5307T= (p.Asn1769=) n.5559T= c.5460T= (p.Asn1820=) c.4365T= (p.Asn1455=) c.549T= (p.Asn183=) c.102T= (p.Asn34=) c.3954T= (p.Asn1318=) n.5477T= | |
| 5 | g.13841824A>C | CA359211830 | DNAH5 | c.5352T>G (p.Asn1784Lys) c.5307T>G (p.Asn1769Lys) n.5559T>G c.5460T>G (p.Asn1820Lys) c.4365T>G (p.Asn1455Lys) c.549T>G (p.Asn183Lys) c.102T>G (p.Asn34Lys) c.3954T>G (p.Asn1318Lys) n.5477T>G | |
| 5 | g.13841824A>G | CA443256418 | DNAH5 | c.5352T>C (p.Asn1784=) c.5307T>C (p.Asn1769=) n.5559T>C c.5460T>C (p.Asn1820=) c.4365T>C (p.Asn1455=) c.549T>C (p.Asn183=) c.102T>C (p.Asn34=) c.3954T>C (p.Asn1318=) n.5477T>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13841824A>T | CA359211832 | DNAH5 | c.5352T>A (p.Asn1784Lys) c.5307T>A (p.Asn1769Lys) n.5559T>A c.5460T>A (p.Asn1820Lys) c.4365T>A (p.Asn1455Lys) c.549T>A (p.Asn183Lys) c.102T>A (p.Asn34Lys) c.3954T>A (p.Asn1318Lys) n.5477T>A | |
| 5 | g.13841825T>A | CA359211833 | DNAH5 | c.5351A>T (p.Asn1784Ile) c.5306A>T (p.Asn1769Ile) n.5558A>T c.5459A>T (p.Asn1820Ile) c.4364A>T (p.Asn1455Ile) c.548A>T (p.Asn183Ile) c.101A>T (p.Asn34Ile) c.3953A>T (p.Asn1318Ile) n.5476A>T | COSMIC |
| 5 | g.13841825T>C | CA359211835 | DNAH5 | c.5351A>G (p.Asn1784Ser) c.5306A>G (p.Asn1769Ser) n.5558A>G c.5459A>G (p.Asn1820Ser) c.4364A>G (p.Asn1455Ser) c.548A>G (p.Asn183Ser) c.101A>G (p.Asn34Ser) c.3953A>G (p.Asn1318Ser) n.5476A>G | dbSNP |
| 5 | g.13841825T>G | CA3203691 | DNAH5 | c.5351A>C (p.Asn1784Thr) c.5306A>C (p.Asn1769Thr) n.5558A>C c.5459A>C (p.Asn1820Thr) c.4364A>C (p.Asn1455Thr) c.548A>C (p.Asn183Thr) c.101A>C (p.Asn34Thr) c.3953A>C (p.Asn1318Thr) n.5476A>C | dbSNP ExAC gnomAD v2 |
| 5 | g.13841825T= | CA1528458406 | DNAH5 | c.5351A= (p.Asn1784=) c.5306A= (p.Asn1769=) n.5558A= c.5459A= (p.Asn1820=) c.4364A= (p.Asn1455=) c.548A= (p.Asn183=) c.101A= (p.Asn34=) c.3953A= (p.Asn1318=) n.5476A= | |
| 5 | g.13841826T>A | CA359211836 | DNAH5 | c.5350A>T (p.Asn1784Tyr) c.5305A>T (p.Asn1769Tyr) n.5557A>T c.5458A>T (p.Asn1820Tyr) c.4363A>T (p.Asn1455Tyr) c.547A>T (p.Asn183Tyr) c.100A>T (p.Asn34Tyr) c.3952A>T (p.Asn1318Tyr) n.5475A>T | |
| 5 | g.13841826T>C | CA359211838 | DNAH5 | c.5350A>G (p.Asn1784Asp) c.5305A>G (p.Asn1769Asp) n.5557A>G c.5458A>G (p.Asn1820Asp) c.4363A>G (p.Asn1455Asp) c.547A>G (p.Asn183Asp) c.100A>G (p.Asn34Asp) c.3952A>G (p.Asn1318Asp) n.5475A>G | |
| 5 | g.13841826T>G | CA359211839 | DNAH5 | c.5350A>C (p.Asn1784His) c.5305A>C (p.Asn1769His) n.5557A>C c.5458A>C (p.Asn1820His) c.4363A>C (p.Asn1455His) c.547A>C (p.Asn183His) c.100A>C (p.Asn34His) c.3952A>C (p.Asn1318His) n.5475A>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13841826T= | CA1528458407 | DNAH5 | c.5350A= (p.Asn1784=) c.5305A= (p.Asn1769=) n.5557A= c.5458A= (p.Asn1820=) c.4363A= (p.Asn1455=) c.547A= (p.Asn183=) c.100A= (p.Asn34=) c.3952A= (p.Asn1318=) n.5475A= | |
| 5 | g.13841827G>A | CA443256432 | DNAH5 | c.5349C>T (p.Gly1783=) c.5304C>T (p.Gly1768=) n.5556C>T c.5457C>T (p.Gly1819=) c.4362C>T (p.Gly1454=) c.546C>T (p.Gly182=) c.99C>T (p.Gly33=) c.3951C>T (p.Gly1317=) n.5474C>T | |
| 5 | g.13841827G>C | CA443256434 | DNAH5 | c.5349C>G (p.Gly1783=) c.5304C>G (p.Gly1768=) n.5556C>G c.5457C>G (p.Gly1819=) c.4362C>G (p.Gly1454=) c.546C>G (p.Gly182=) c.99C>G (p.Gly33=) c.3951C>G (p.Gly1317=) n.5474C>G | |
| 5 | g.13841827G>T | CA443256435 | DNAH5 | c.5349C>A (p.Gly1783=) c.5304C>A (p.Gly1768=) n.5556C>A c.5457C>A (p.Gly1819=) c.4362C>A (p.Gly1454=) c.546C>A (p.Gly182=) c.99C>A (p.Gly33=) c.3951C>A (p.Gly1317=) n.5474C>A | |
| 5 | g.13841828C>A | CA359211840 | DNAH5 | c.5348G>T (p.Gly1783Val) c.5303G>T (p.Gly1768Val) n.5555G>T c.5456G>T (p.Gly1819Val) c.4361G>T (p.Gly1454Val) c.545G>T (p.Gly182Val) c.98G>T (p.Gly33Val) c.3950G>T (p.Gly1317Val) n.5473G>T | gnomAD v4 |
| 5 | g.13841828C>G | CA359211841 | DNAH5 | c.5348G>C (p.Gly1783Ala) c.5303G>C (p.Gly1768Ala) n.5555G>C c.5456G>C (p.Gly1819Ala) c.4361G>C (p.Gly1454Ala) c.545G>C (p.Gly182Ala) c.98G>C (p.Gly33Ala) c.3950G>C (p.Gly1317Ala) n.5473G>C | |
| 5 | g.13841828C>T | CA359211842 | DNAH5 | c.5348G>A (p.Gly1783Asp) c.5303G>A (p.Gly1768Asp) n.5555G>A c.5456G>A (p.Gly1819Asp) c.4361G>A (p.Gly1454Asp) c.545G>A (p.Gly182Asp) c.98G>A (p.Gly33Asp) c.3950G>A (p.Gly1317Asp) n.5473G>A | |
| 5 | g.13841829C>A | CA359211844 | DNAH5 | c.5347G>T (p.Gly1783Cys) c.5302G>T (p.Gly1768Cys) n.5554G>T c.5455G>T (p.Gly1819Cys) c.4360G>T (p.Gly1454Cys) c.544G>T (p.Gly182Cys) c.97G>T (p.Gly33Cys) c.3949G>T (p.Gly1317Cys) n.5472G>T | |
| 5 | g.13841829C= | CA1528458409 | DNAH5 | c.5347G= (p.Gly1783=) c.5302G= (p.Gly1768=) n.5554G= c.5455G= (p.Gly1819=) c.4360G= (p.Gly1454=) c.544G= (p.Gly182=) c.97G= (p.Gly33=) c.3949G= (p.Gly1317=) n.5472G= | |
| 5 | g.13841829C>G | CA359211845 | DNAH5 | c.5347G>C (p.Gly1783Arg) c.5302G>C (p.Gly1768Arg) n.5554G>C c.5455G>C (p.Gly1819Arg) c.4360G>C (p.Gly1454Arg) c.544G>C (p.Gly182Arg) c.97G>C (p.Gly33Arg) c.3949G>C (p.Gly1317Arg) n.5472G>C | |
| 5 | g.13841829C>T | CA3203692 | DNAH5 | c.5347G>A (p.Gly1783Ser) c.5302G>A (p.Gly1768Ser) n.5554G>A c.5455G>A (p.Gly1819Ser) c.4360G>A (p.Gly1454Ser) c.544G>A (p.Gly182Ser) c.97G>A (p.Gly33Ser) c.3949G>A (p.Gly1317Ser) n.5472G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13841830C>A | CA3203693 | DNAH5 | c.5346G>T (p.Glu1782Asp) c.5301G>T (p.Glu1767Asp) n.5553G>T c.5454G>T (p.Glu1818Asp) c.4359G>T (p.Glu1453Asp) c.543G>T (p.Glu181Asp) c.96G>T (p.Glu32Asp) c.3948G>T (p.Glu1316Asp) n.5471G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13841830C= | CA1528458410 | DNAH5 | c.5346G= (p.Glu1782=) c.5301G= (p.Glu1767=) n.5553G= c.5454G= (p.Glu1818=) c.4359G= (p.Glu1453=) c.543G= (p.Glu181=) c.96G= (p.Glu32=) c.3948G= (p.Glu1316=) n.5471G= | |
| 5 | g.13841830C>G | CA359211848 | DNAH5 | c.5346G>C (p.Glu1782Asp) c.5301G>C (p.Glu1767Asp) n.5553G>C c.5454G>C (p.Glu1818Asp) c.4359G>C (p.Glu1453Asp) c.543G>C (p.Glu181Asp) c.96G>C (p.Glu32Asp) c.3948G>C (p.Glu1316Asp) n.5471G>C | |
| 5 | g.13841830C>T | CA443256442 | DNAH5 | c.5346G>A (p.Glu1782=) c.5301G>A (p.Glu1767=) n.5553G>A c.5454G>A (p.Glu1818=) c.4359G>A (p.Glu1453=) c.543G>A (p.Glu181=) c.96G>A (p.Glu32=) c.3948G>A (p.Glu1316=) n.5471G>A | ClinVar |
| 5 | g.13841831T>A | CA359211856 | DNAH5 | c.5345A>T (p.Glu1782Val) c.5300A>T (p.Glu1767Val) n.5552A>T c.5453A>T (p.Glu1818Val) c.4358A>T (p.Glu1453Val) c.542A>T (p.Glu181Val) c.95A>T (p.Glu32Val) c.3947A>T (p.Glu1316Val) n.5470A>T | |
| 5 | g.13841831T>C | CA359211854 | DNAH5 | c.5345A>G (p.Glu1782Gly) c.5300A>G (p.Glu1767Gly) n.5552A>G c.5453A>G (p.Glu1818Gly) c.4358A>G (p.Glu1453Gly) c.542A>G (p.Glu181Gly) c.95A>G (p.Glu32Gly) c.3947A>G (p.Glu1316Gly) n.5470A>G | |
| 5 | g.13841831T>G | CA359211850 | DNAH5 | c.5345A>C (p.Glu1782Ala) c.5300A>C (p.Glu1767Ala) n.5552A>C c.5453A>C (p.Glu1818Ala) c.4358A>C (p.Glu1453Ala) c.542A>C (p.Glu181Ala) c.95A>C (p.Glu32Ala) c.3947A>C (p.Glu1316Ala) n.5470A>C | |
| 5 | g.13841832del | CA2573138484 | DNAH5 | c.5344del (p.Glu1782ArgfsTer22) c.5299del (p.Glu1767ArgfsTer22) n.5551del c.5452del (p.Glu1818ArgfsTer22) c.4357del (p.Glu1453ArgfsTer22) c.541del (p.Glu181ArgfsTer22) c.94del (p.Glu32ArgfsTer22) c.3946del (p.Glu1316ArgfsTer22) n.5469del | ClinVar dbSNP |
| 5 | g.13841832C>A | CA359211857 | DNAH5 | c.5344G>T (p.Glu1782Ter) c.5299G>T (p.Glu1767Ter) n.5551G>T c.5452G>T (p.Glu1818Ter) c.4357G>T (p.Glu1453Ter) c.541G>T (p.Glu181Ter) c.94G>T (p.Glu32Ter) c.3946G>T (p.Glu1316Ter) n.5469G>T | |
| 5 | g.13841832C>G | CA359211858 | DNAH5 | c.5344G>C (p.Glu1782Gln) c.5299G>C (p.Glu1767Gln) n.5551G>C c.5452G>C (p.Glu1818Gln) c.4357G>C (p.Glu1453Gln) c.541G>C (p.Glu181Gln) c.94G>C (p.Glu32Gln) c.3946G>C (p.Glu1316Gln) n.5469G>C | |
| 5 | g.13841832C>T | CA359211860 | DNAH5 | c.5344G>A (p.Glu1782Lys) c.5299G>A (p.Glu1767Lys) n.5551G>A c.5452G>A (p.Glu1818Lys) c.4357G>A (p.Glu1453Lys) c.541G>A (p.Glu181Lys) c.94G>A (p.Glu32Lys) c.3946G>A (p.Glu1316Lys) n.5469G>A | |
| 5 | g.13841833T>A | CA443256446 | DNAH5 | c.5343A>T (p.Ala1781=) c.5298A>T (p.Ala1766=) n.5550A>T c.5451A>T (p.Ala1817=) c.4356A>T (p.Ala1452=) c.540A>T (p.Ala180=) c.93A>T (p.Ala31=) c.3945A>T (p.Ala1315=) n.5468A>T | |
| 5 | g.13841833T>C | CA443256448 | DNAH5 | c.5343A>G (p.Ala1781=) c.5298A>G (p.Ala1766=) n.5550A>G c.5451A>G (p.Ala1817=) c.4356A>G (p.Ala1452=) c.540A>G (p.Ala180=) c.93A>G (p.Ala31=) c.3945A>G (p.Ala1315=) n.5468A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13841833T>G | CA443256450 | DNAH5 | c.5343A>C (p.Ala1781=) c.5298A>C (p.Ala1766=) n.5550A>C c.5451A>C (p.Ala1817=) c.4356A>C (p.Ala1452=) c.540A>C (p.Ala180=) c.93A>C (p.Ala31=) c.3945A>C (p.Ala1315=) n.5468A>C | |
| 5 | g.13841833T= | CA1528458412 | DNAH5 | c.5343A= (p.Ala1781=) c.5298A= (p.Ala1766=) n.5550A= c.5451A= (p.Ala1817=) c.4356A= (p.Ala1452=) c.540A= (p.Ala180=) c.93A= (p.Ala31=) c.3945A= (p.Ala1315=) n.5468A= | |
| 5 | g.13841834G>A | CA359211863 | DNAH5 | c.5342C>T (p.Ala1781Val) c.5297C>T (p.Ala1766Val) n.5549C>T c.5450C>T (p.Ala1817Val) c.4355C>T (p.Ala1452Val) c.539C>T (p.Ala180Val) c.92C>T (p.Ala31Val) c.3944C>T (p.Ala1315Val) n.5467C>T | dbSNP gnomAD v4 |
| 5 | g.13841834G>C | CA359211865 | DNAH5 | c.5342C>G (p.Ala1781Gly) c.5297C>G (p.Ala1766Gly) n.5549C>G c.5450C>G (p.Ala1817Gly) c.4355C>G (p.Ala1452Gly) c.539C>G (p.Ala180Gly) c.92C>G (p.Ala31Gly) c.3944C>G (p.Ala1315Gly) n.5467C>G | |
| 5 | g.13841834G= | CA1528458413 | DNAH5 | c.5342C= (p.Ala1781=) c.5297C= (p.Ala1766=) n.5549C= c.5450C= (p.Ala1817=) c.4355C= (p.Ala1452=) c.539C= (p.Ala180=) c.92C= (p.Ala31=) c.3944C= (p.Ala1315=) n.5467C= | |
| 5 | g.13841834G>T | CA359211867 | DNAH5 | c.5342C>A (p.Ala1781Glu) c.5297C>A (p.Ala1766Glu) n.5549C>A c.5450C>A (p.Ala1817Glu) c.4355C>A (p.Ala1452Glu) c.539C>A (p.Ala180Glu) c.92C>A (p.Ala31Glu) c.3944C>A (p.Ala1315Glu) n.5467C>A | |
| 5 | g.13841835C>A | CA359211868 | DNAH5 | c.5341G>T (p.Ala1781Ser) c.5296G>T (p.Ala1766Ser) n.5548G>T c.5449G>T (p.Ala1817Ser) c.4354G>T (p.Ala1452Ser) c.538G>T (p.Ala180Ser) c.91G>T (p.Ala31Ser) c.3943G>T (p.Ala1315Ser) n.5466G>T | dbSNP |
| 5 | g.13841835C= | CA1528458415 | DNAH5 | c.5341G= (p.Ala1781=) c.5296G= (p.Ala1766=) n.5548G= c.5449G= (p.Ala1817=) c.4354G= (p.Ala1452=) c.538G= (p.Ala180=) c.91G= (p.Ala31=) c.3943G= (p.Ala1315=) n.5466G= | |
| 5 | g.13841835C>G | CA359211869 | DNAH5 | c.5341G>C (p.Ala1781Pro) c.5296G>C (p.Ala1766Pro) n.5548G>C c.5449G>C (p.Ala1817Pro) c.4354G>C (p.Ala1452Pro) c.538G>C (p.Ala180Pro) c.91G>C (p.Ala31Pro) c.3943G>C (p.Ala1315Pro) n.5466G>C | |
| 5 | g.13841835C>T | CA359211870 | DNAH5 | c.5341G>A (p.Ala1781Thr) c.5296G>A (p.Ala1766Thr) n.5548G>A c.5449G>A (p.Ala1817Thr) c.4354G>A (p.Ala1452Thr) c.538G>A (p.Ala180Thr) c.91G>A (p.Ala31Thr) c.3943G>A (p.Ala1315Thr) n.5466G>A | |
| 5 | g.13841836C>A | CA359211872 | DNAH5 | c.5340G>T (p.Met1780Ile) c.5295G>T (p.Met1765Ile) n.5547G>T c.5448G>T (p.Met1816Ile) c.4353G>T (p.Met1451Ile) c.537G>T (p.Met179Ile) c.90G>T (p.Met30Ile) c.3942G>T (p.Met1314Ile) n.5465G>T | |
| 5 | g.13841836C>G | CA359211874 | DNAH5 | c.5340G>C (p.Met1780Ile) c.5295G>C (p.Met1765Ile) n.5547G>C c.5448G>C (p.Met1816Ile) c.4353G>C (p.Met1451Ile) c.537G>C (p.Met179Ile) c.90G>C (p.Met30Ile) c.3942G>C (p.Met1314Ile) n.5465G>C | |
| 5 | g.13841836C>T | CA359211875 | DNAH5 | c.5340G>A (p.Met1780Ile) c.5295G>A (p.Met1765Ile) n.5547G>A c.5448G>A (p.Met1816Ile) c.4353G>A (p.Met1451Ile) c.537G>A (p.Met179Ile) c.90G>A (p.Met30Ile) c.3942G>A (p.Met1314Ile) n.5465G>A | |
| 5 | g.13841837A>C | CA359211880 | DNAH5 | c.5339T>G (p.Met1780Arg) c.5294T>G (p.Met1765Arg) n.5546T>G c.5447T>G (p.Met1816Arg) c.4352T>G (p.Met1451Arg) c.536T>G (p.Met179Arg) c.89T>G (p.Met30Arg) c.3941T>G (p.Met1314Arg) n.5464T>G | |
| 5 | g.13841837A>G | CA359211879 | DNAH5 | c.5339T>C (p.Met1780Thr) c.5294T>C (p.Met1765Thr) n.5546T>C c.5447T>C (p.Met1816Thr) c.4352T>C (p.Met1451Thr) c.536T>C (p.Met179Thr) c.89T>C (p.Met30Thr) c.3941T>C (p.Met1314Thr) n.5464T>C | gnomAD v4 |
| 5 | g.13841837A>T | CA359211877 | DNAH5 | c.5339T>A (p.Met1780Lys) c.5294T>A (p.Met1765Lys) n.5546T>A c.5447T>A (p.Met1816Lys) c.4352T>A (p.Met1451Lys) c.536T>A (p.Met179Lys) c.89T>A (p.Met30Lys) c.3941T>A (p.Met1314Lys) n.5464T>A | |
| 5 | g.13841838T>A | CA113947790 | DNAH5 | c.5338A>T (p.Met1780Leu) c.5293A>T (p.Met1765Leu) n.5545A>T c.5446A>T (p.Met1816Leu) c.4351A>T (p.Met1451Leu) c.535A>T (p.Met179Leu) c.88A>T (p.Met30Leu) c.3940A>T (p.Met1314Leu) n.5463A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13841838T>C | CA359211890 | DNAH5 | c.5338A>G (p.Met1780Val) c.5293A>G (p.Met1765Val) n.5545A>G c.5446A>G (p.Met1816Val) c.4351A>G (p.Met1451Val) c.535A>G (p.Met179Val) c.88A>G (p.Met30Val) c.3940A>G (p.Met1314Val) n.5463A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13841838T>G | CA359211888 | DNAH5 | c.5338A>C (p.Met1780Leu) c.5293A>C (p.Met1765Leu) n.5545A>C c.5446A>C (p.Met1816Leu) c.4351A>C (p.Met1451Leu) c.535A>C (p.Met179Leu) c.88A>C (p.Met30Leu) c.3940A>C (p.Met1314Leu) n.5463A>C | |
| 5 | g.13841838T= | CA1528458416 | DNAH5 | c.5338A= (p.Met1780=) c.5293A= (p.Met1765=) n.5545A= c.5446A= (p.Met1816=) c.4351A= (p.Met1451=) c.535A= (p.Met179=) c.88A= (p.Met30=) c.3940A= (p.Met1314=) n.5463A= | |
| 5 | g.13841839G>A | CA443256466 | DNAH5 | c.5337C>T (p.Val1779=) c.5292C>T (p.Val1764=) n.5544C>T c.5445C>T (p.Val1815=) c.4350C>T (p.Val1450=) c.534C>T (p.Val178=) c.87C>T (p.Val29=) c.3939C>T (p.Val1313=) n.5462C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13841839G>C | CA443256467 | DNAH5 | c.5337C>G (p.Val1779=) c.5292C>G (p.Val1764=) n.5544C>G c.5445C>G (p.Val1815=) c.4350C>G (p.Val1450=) c.534C>G (p.Val178=) c.87C>G (p.Val29=) c.3939C>G (p.Val1313=) n.5462C>G | |
| 5 | g.13841839G= | CA1528458418 | DNAH5 | c.5337C= (p.Val1779=) c.5292C= (p.Val1764=) n.5544C= c.5445C= (p.Val1815=) c.4350C= (p.Val1450=) c.534C= (p.Val178=) c.87C= (p.Val29=) c.3939C= (p.Val1313=) n.5462C= | |
| 5 | g.13841839G>T | CA443256468 | DNAH5 | c.5337C>A (p.Val1779=) c.5292C>A (p.Val1764=) n.5544C>A c.5445C>A (p.Val1815=) c.4350C>A (p.Val1450=) c.534C>A (p.Val178=) c.87C>A (p.Val29=) c.3939C>A (p.Val1313=) n.5462C>A | gnomAD v4 |
| 5 | g.13841840A>C | CA359212256 | DNAH5 | c.5336T>G (p.Val1779Gly) c.5291T>G (p.Val1764Gly) n.5543T>G c.5444T>G (p.Val1815Gly) c.4349T>G (p.Val1450Gly) c.533T>G (p.Val178Gly) c.86T>G (p.Val29Gly) c.3938T>G (p.Val1313Gly) n.5461T>G | |
| 5 | g.13841840A>G | CA359212259 | DNAH5 | c.5336T>C (p.Val1779Ala) c.5291T>C (p.Val1764Ala) n.5543T>C c.5444T>C (p.Val1815Ala) c.4349T>C (p.Val1450Ala) c.533T>C (p.Val178Ala) c.86T>C (p.Val29Ala) c.3938T>C (p.Val1313Ala) n.5461T>C | |
| 5 | g.13841840A>T | CA359212261 | DNAH5 | c.5336T>A (p.Val1779Asp) c.5291T>A (p.Val1764Asp) n.5543T>A c.5444T>A (p.Val1815Asp) c.4349T>A (p.Val1450Asp) c.533T>A (p.Val178Asp) c.86T>A (p.Val29Asp) c.3938T>A (p.Val1313Asp) n.5461T>A | |
| 5 | g.13841841C>A | CA359212263 | DNAH5 | c.5335G>T (p.Val1779Phe) c.5290G>T (p.Val1764Phe) n.5542G>T c.5443G>T (p.Val1815Phe) c.4348G>T (p.Val1450Phe) c.532G>T (p.Val178Phe) c.85G>T (p.Val29Phe) c.3937G>T (p.Val1313Phe) n.5460G>T | |
| 5 | g.13841841C>G | CA359212265 | DNAH5 | c.5335G>C (p.Val1779Leu) c.5290G>C (p.Val1764Leu) n.5542G>C c.5443G>C (p.Val1815Leu) c.4348G>C (p.Val1450Leu) c.532G>C (p.Val178Leu) c.85G>C (p.Val29Leu) c.3937G>C (p.Val1313Leu) n.5460G>C | |
| 5 | g.13841841C>T | CA359212267 | DNAH5 | c.5335G>A (p.Val1779Ile) c.5290G>A (p.Val1764Ile) n.5542G>A c.5443G>A (p.Val1815Ile) c.4348G>A (p.Val1450Ile) c.532G>A (p.Val178Ile) c.85G>A (p.Val29Ile) c.3937G>A (p.Val1313Ile) n.5460G>A | gnomAD v4 |
| 5 | g.13841842A>C | CA443256795 | DNAH5 | c.5334T>G (p.Pro1778=) c.5289T>G (p.Pro1763=) n.5541T>G c.5442T>G (p.Pro1814=) c.4347T>G (p.Pro1449=) c.531T>G (p.Pro177=) c.84T>G (p.Pro28=) c.3936T>G (p.Pro1312=) n.5459T>G | |
| 5 | g.13841842A>G | CA443256797 | DNAH5 | c.5334T>C (p.Pro1778=) c.5289T>C (p.Pro1763=) n.5541T>C c.5442T>C (p.Pro1814=) c.4347T>C (p.Pro1449=) c.531T>C (p.Pro177=) c.84T>C (p.Pro28=) c.3936T>C (p.Pro1312=) n.5459T>C | |
| 5 | g.13841842A>T | CA443256798 | DNAH5 | c.5334T>A (p.Pro1778=) c.5289T>A (p.Pro1763=) n.5541T>A c.5442T>A (p.Pro1814=) c.4347T>A (p.Pro1449=) c.531T>A (p.Pro177=) c.84T>A (p.Pro28=) c.3936T>A (p.Pro1312=) n.5459T>A | |
| 5 | g.13841843G>A | CA359212270 | DNAH5 | c.5333C>T (p.Pro1778Leu) c.5288C>T (p.Pro1763Leu) n.5540C>T c.5441C>T (p.Pro1814Leu) c.4346C>T (p.Pro1449Leu) c.530C>T (p.Pro177Leu) c.83C>T (p.Pro28Leu) c.3935C>T (p.Pro1312Leu) n.5458C>T | |
| 5 | g.13841843G>C | CA3203694 | DNAH5 | c.5333C>G (p.Pro1778Arg) c.5288C>G (p.Pro1763Arg) n.5540C>G c.5441C>G (p.Pro1814Arg) c.4346C>G (p.Pro1449Arg) c.530C>G (p.Pro177Arg) c.83C>G (p.Pro28Arg) c.3935C>G (p.Pro1312Arg) n.5458C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13841843G= | CA1528458419 | DNAH5 | c.5333C= (p.Pro1778=) c.5288C= (p.Pro1763=) n.5540C= c.5441C= (p.Pro1814=) c.4346C= (p.Pro1449=) c.530C= (p.Pro177=) c.83C= (p.Pro28=) c.3935C= (p.Pro1312=) n.5458C= | |
| 5 | g.13841843G>T | CA359212273 | DNAH5 | c.5333C>A (p.Pro1778His) c.5288C>A (p.Pro1763His) n.5540C>A c.5441C>A (p.Pro1814His) c.4346C>A (p.Pro1449His) c.530C>A (p.Pro177His) c.83C>A (p.Pro28His) c.3935C>A (p.Pro1312His) n.5458C>A | |
| 5 | g.13841844G>A | CA359212275 | DNAH5 | c.5332C>T (p.Pro1778Ser) c.5287C>T (p.Pro1763Ser) n.5539C>T c.5440C>T (p.Pro1814Ser) c.4345C>T (p.Pro1449Ser) c.529C>T (p.Pro177Ser) c.82C>T (p.Pro28Ser) c.3934C>T (p.Pro1312Ser) n.5457C>T | gnomAD v4 |
| 5 | g.13841844G>C | CA359212277 | DNAH5 | c.5332C>G (p.Pro1778Ala) c.5287C>G (p.Pro1763Ala) n.5539C>G c.5440C>G (p.Pro1814Ala) c.4345C>G (p.Pro1449Ala) c.529C>G (p.Pro177Ala) c.82C>G (p.Pro28Ala) c.3934C>G (p.Pro1312Ala) n.5457C>G | ClinVar dbSNP |
| 5 | g.13841844G= | CA1528458421 | DNAH5 | c.5332C= (p.Pro1778=) c.5287C= (p.Pro1763=) n.5539C= c.5440C= (p.Pro1814=) c.4345C= (p.Pro1449=) c.529C= (p.Pro177=) c.82C= (p.Pro28=) c.3934C= (p.Pro1312=) n.5457C= | |
| 5 | g.13841844G>T | CA359212279 | DNAH5 | c.5332C>A (p.Pro1778Thr) c.5287C>A (p.Pro1763Thr) n.5539C>A c.5440C>A (p.Pro1814Thr) c.4345C>A (p.Pro1449Thr) c.529C>A (p.Pro177Thr) c.82C>A (p.Pro28Thr) c.3934C>A (p.Pro1312Thr) n.5457C>A | |
| 5 | g.13841845T>A | CA359212282 | DNAH5 | c.5331A>T (p.Lys1777Asn) c.5286A>T (p.Lys1762Asn) n.5538A>T c.5439A>T (p.Lys1813Asn) c.4344A>T (p.Lys1448Asn) c.528A>T (p.Lys176Asn) c.81A>T (p.Lys27Asn) c.3933A>T (p.Lys1311Asn) n.5456A>T | |
| 5 | g.13841845T>C | CA443256803 | DNAH5 | c.5331A>G (p.Lys1777=) c.5286A>G (p.Lys1762=) n.5538A>G c.5439A>G (p.Lys1813=) c.4344A>G (p.Lys1448=) c.528A>G (p.Lys176=) c.81A>G (p.Lys27=) c.3933A>G (p.Lys1311=) n.5456A>G | COSMIC |
| 5 | g.13841845T>G | CA359212283 | DNAH5 | c.5331A>C (p.Lys1777Asn) c.5286A>C (p.Lys1762Asn) n.5538A>C c.5439A>C (p.Lys1813Asn) c.4344A>C (p.Lys1448Asn) c.528A>C (p.Lys176Asn) c.81A>C (p.Lys27Asn) c.3933A>C (p.Lys1311Asn) n.5456A>C | |
| 5 | g.13841846T>A | CA3203695 | DNAH5 | c.5330A>T (p.Lys1777Ile) c.5285A>T (p.Lys1762Ile) n.5537A>T c.5438A>T (p.Lys1813Ile) c.4343A>T (p.Lys1448Ile) c.527A>T (p.Lys176Ile) c.80A>T (p.Lys27Ile) c.3932A>T (p.Lys1311Ile) n.5455A>T | dbSNP ExAC gnomAD v2 |
| 5 | g.13841846T>C | CA359212286 | DNAH5 | c.5330A>G (p.Lys1777Arg) c.5285A>G (p.Lys1762Arg) n.5537A>G c.5438A>G (p.Lys1813Arg) c.4343A>G (p.Lys1448Arg) c.527A>G (p.Lys176Arg) c.80A>G (p.Lys27Arg) c.3932A>G (p.Lys1311Arg) n.5455A>G | |
| 5 | g.13841846T>G | CA359212287 | DNAH5 | c.5330A>C (p.Lys1777Thr) c.5285A>C (p.Lys1762Thr) n.5537A>C c.5438A>C (p.Lys1813Thr) c.4343A>C (p.Lys1448Thr) c.527A>C (p.Lys176Thr) c.80A>C (p.Lys27Thr) c.3932A>C (p.Lys1311Thr) n.5455A>C | |
| 5 | g.13841846T= | CA1528458423 | DNAH5 | c.5330A= (p.Lys1777=) c.5285A= (p.Lys1762=) n.5537A= c.5438A= (p.Lys1813=) c.4343A= (p.Lys1448=) c.527A= (p.Lys176=) c.80A= (p.Lys27=) c.3932A= (p.Lys1311=) n.5455A= | |
| 5 | g.13841847T>A | CA359212290 | DNAH5 | c.5329A>T (p.Lys1777Ter) c.5284A>T (p.Lys1762Ter) n.5536A>T c.5437A>T (p.Lys1813Ter) c.4342A>T (p.Lys1448Ter) c.526A>T (p.Lys176Ter) c.79A>T (p.Lys27Ter) c.3931A>T (p.Lys1311Ter) n.5454A>T | |
| 5 | g.13841847T>C | CA359212292 | DNAH5 | c.5329A>G (p.Lys1777Glu) c.5284A>G (p.Lys1762Glu) n.5536A>G c.5437A>G (p.Lys1813Glu) c.4342A>G (p.Lys1448Glu) c.526A>G (p.Lys176Glu) c.79A>G (p.Lys27Glu) c.3931A>G (p.Lys1311Glu) n.5454A>G | |
| 5 | g.13841847T>G | CA359212293 | DNAH5 | c.5329A>C (p.Lys1777Gln) c.5284A>C (p.Lys1762Gln) n.5536A>C c.5437A>C (p.Lys1813Gln) c.4342A>C (p.Lys1448Gln) c.526A>C (p.Lys176Gln) c.79A>C (p.Lys27Gln) c.3931A>C (p.Lys1311Gln) n.5454A>C | |
| 5 | g.13841848A>C | CA359212296 | DNAH5 | c.5328T>G (p.Asp1776Glu) c.5283T>G (p.Asp1761Glu) n.5535T>G c.5436T>G (p.Asp1812Glu) c.4341T>G (p.Asp1447Glu) c.525T>G (p.Asp175Glu) c.78T>G (p.Asp26Glu) c.3930T>G (p.Asp1310Glu) n.5453T>G | |
| 5 | g.13841848A>G | CA443256817 | DNAH5 | c.5328T>C (p.Asp1776=) c.5283T>C (p.Asp1761=) n.5535T>C c.5436T>C (p.Asp1812=) c.4341T>C (p.Asp1447=) c.525T>C (p.Asp175=) c.78T>C (p.Asp26=) c.3930T>C (p.Asp1310=) n.5453T>C | |
| 5 | g.13841848A>T | CA359212298 | DNAH5 | c.5328T>A (p.Asp1776Glu) c.5283T>A (p.Asp1761Glu) n.5535T>A c.5436T>A (p.Asp1812Glu) c.4341T>A (p.Asp1447Glu) c.525T>A (p.Asp175Glu) c.78T>A (p.Asp26Glu) c.3930T>A (p.Asp1310Glu) n.5453T>A | |
| 5 | g.13841849T>A | CA359212300 | DNAH5 | c.5327A>T (p.Asp1776Val) c.5282A>T (p.Asp1761Val) n.5534A>T c.5435A>T (p.Asp1812Val) c.4340A>T (p.Asp1447Val) c.524A>T (p.Asp175Val) c.77A>T (p.Asp26Val) c.3929A>T (p.Asp1310Val) n.5452A>T | gnomAD v4 |
| 5 | g.13841849T>C | CA3203696 | DNAH5 | c.5327A>G (p.Asp1776Gly) c.5282A>G (p.Asp1761Gly) n.5534A>G c.5435A>G (p.Asp1812Gly) c.4340A>G (p.Asp1447Gly) c.524A>G (p.Asp175Gly) c.77A>G (p.Asp26Gly) c.3929A>G (p.Asp1310Gly) n.5452A>G | dbSNP ExAC gnomAD v2 |
| 5 | g.13841849T>G | CA359212302 | DNAH5 | c.5327A>C (p.Asp1776Ala) c.5282A>C (p.Asp1761Ala) n.5534A>C c.5435A>C (p.Asp1812Ala) c.4340A>C (p.Asp1447Ala) c.524A>C (p.Asp175Ala) c.77A>C (p.Asp26Ala) c.3929A>C (p.Asp1310Ala) n.5452A>C | |
| 5 | g.13841849T= | CA1528458425 | DNAH5 | c.5327A= (p.Asp1776=) c.5282A= (p.Asp1761=) n.5534A= c.5435A= (p.Asp1812=) c.4340A= (p.Asp1447=) c.524A= (p.Asp175=) c.77A= (p.Asp26=) c.3929A= (p.Asp1310=) n.5452A= | |
| 5 | g.13841850C>A | CA359212305 | DNAH5 | c.5326G>T (p.Asp1776Tyr) c.5281G>T (p.Asp1761Tyr) n.5533G>T c.5434G>T (p.Asp1812Tyr) c.4339G>T (p.Asp1447Tyr) c.523G>T (p.Asp175Tyr) c.76G>T (p.Asp26Tyr) c.3928G>T (p.Asp1310Tyr) n.5451G>T | |
| 5 | g.13841850C= | CA1528458426 | DNAH5 | c.5326G= (p.Asp1776=) c.5281G= (p.Asp1761=) n.5533G= c.5434G= (p.Asp1812=) c.4339G= (p.Asp1447=) c.523G= (p.Asp175=) c.76G= (p.Asp26=) c.3928G= (p.Asp1310=) n.5451G= | |
| 5 | g.13841850C>G | CA359212307 | DNAH5 | c.5326G>C (p.Asp1776His) c.5281G>C (p.Asp1761His) n.5533G>C c.5434G>C (p.Asp1812His) c.4339G>C (p.Asp1447His) c.523G>C (p.Asp175His) c.76G>C (p.Asp26His) c.3928G>C (p.Asp1310His) n.5451G>C | |
| 5 | g.13841850C>T | CA3203697 | DNAH5 | c.5326G>A (p.Asp1776Asn) c.5281G>A (p.Asp1761Asn) n.5533G>A c.5434G>A (p.Asp1812Asn) c.4339G>A (p.Asp1447Asn) c.523G>A (p.Asp175Asn) c.76G>A (p.Asp26Asn) c.3928G>A (p.Asp1310Asn) n.5451G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13841851del | CA2580072091 | DNAH5 | c.5326del (p.Asp1776IlefsTer28) c.5281del (p.Asp1761IlefsTer28) n.5533del c.5434del (p.Asp1812IlefsTer28) c.4339del (p.Asp1447IlefsTer28) c.523del (p.Asp175IlefsTer28) c.76del (p.Asp26IlefsTer28) c.3928del (p.Asp1310IlefsTer28) n.5451del | ClinVar gnomAD v4 |
| 5 | g.13841851C>A | CA359212309 | DNAH5 | c.5325G>T (p.Leu1775Phe) c.5280G>T (p.Leu1760Phe) n.5532G>T c.5433G>T (p.Leu1811Phe) c.4338G>T (p.Leu1446Phe) c.522G>T (p.Leu174Phe) c.75G>T (p.Leu25Phe) c.3927G>T (p.Leu1309Phe) n.5450G>T | |
| 5 | g.13841851C= | CA1528458428 | DNAH5 | c.5325G= (p.Leu1775=) c.5280G= (p.Leu1760=) n.5532G= c.5433G= (p.Leu1811=) c.4338G= (p.Leu1446=) c.522G= (p.Leu174=) c.75G= (p.Leu25=) c.3927G= (p.Leu1309=) n.5450G= | |
| 5 | g.13841851C>G | CA359212310 | DNAH5 | c.5325G>C (p.Leu1775Phe) c.5280G>C (p.Leu1760Phe) n.5532G>C c.5433G>C (p.Leu1811Phe) c.4338G>C (p.Leu1446Phe) c.522G>C (p.Leu174Phe) c.75G>C (p.Leu25Phe) c.3927G>C (p.Leu1309Phe) n.5450G>C | |
| 5 | g.13841851C>T | CA443256829 | DNAH5 | c.5325G>A (p.Leu1775=) c.5280G>A (p.Leu1760=) n.5532G>A c.5433G>A (p.Leu1811=) c.4338G>A (p.Leu1446=) c.522G>A (p.Leu174=) c.75G>A (p.Leu25=) c.3927G>A (p.Leu1309=) n.5450G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13841852A>C | CA359212312 | DNAH5 | c.5324T>G (p.Leu1775Trp) c.5279T>G (p.Leu1760Trp) n.5531T>G c.5432T>G (p.Leu1811Trp) c.4337T>G (p.Leu1446Trp) c.521T>G (p.Leu174Trp) c.74T>G (p.Leu25Trp) c.3926T>G (p.Leu1309Trp) n.5449T>G | |
| 5 | g.13841852A>G | CA359212314 | DNAH5 | c.5324T>C (p.Leu1775Ser) c.5279T>C (p.Leu1760Ser) n.5531T>C c.5432T>C (p.Leu1811Ser) c.4337T>C (p.Leu1446Ser) c.521T>C (p.Leu174Ser) c.74T>C (p.Leu25Ser) c.3926T>C (p.Leu1309Ser) n.5449T>C | |
| 5 | g.13841852A>T | CA359212316 | DNAH5 | c.5324T>A (p.Leu1775Ter) c.5279T>A (p.Leu1760Ter) n.5531T>A c.5432T>A (p.Leu1811Ter) c.4337T>A (p.Leu1446Ter) c.521T>A (p.Leu174Ter) c.74T>A (p.Leu25Ter) c.3926T>A (p.Leu1309Ter) n.5449T>A | |
| 5 | g.13841853A= | CA1528458429 | DNAH5 | c.5323T= (p.Leu1775=) c.5278T= (p.Leu1760=) n.5530T= c.5431T= (p.Leu1811=) c.4336T= (p.Leu1446=) c.520T= (p.Leu174=) c.73T= (p.Leu25=) c.3925T= (p.Leu1309=) n.5448T= | |
| 5 | g.13841853A>C | CA359212318 | DNAH5 | c.5323T>G (p.Leu1775Val) c.5278T>G (p.Leu1760Val) n.5530T>G c.5431T>G (p.Leu1811Val) c.4336T>G (p.Leu1446Val) c.520T>G (p.Leu174Val) c.73T>G (p.Leu25Val) c.3925T>G (p.Leu1309Val) n.5448T>G | |
| 5 | g.13841853A>G | CA3203698 | DNAH5 | c.5323T>C (p.Leu1775=) c.5278T>C (p.Leu1760=) n.5530T>C c.5431T>C (p.Leu1811=) c.4336T>C (p.Leu1446=) c.520T>C (p.Leu174=) c.73T>C (p.Leu25=) c.3925T>C (p.Leu1309=) n.5448T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13841853A>T | CA359212321 | DNAH5 | c.5323T>A (p.Leu1775Met) c.5278T>A (p.Leu1760Met) n.5530T>A c.5431T>A (p.Leu1811Met) c.4336T>A (p.Leu1446Met) c.520T>A (p.Leu174Met) c.73T>A (p.Leu25Met) c.3925T>A (p.Leu1309Met) n.5448T>A | gnomAD v4 |
| 5 | g.13841854T>A | CA359212323 | DNAH5 | c.5322A>T (p.Glu1774Asp) c.5277A>T (p.Glu1759Asp) n.5529A>T c.5430A>T (p.Glu1810Asp) c.4335A>T (p.Glu1445Asp) c.519A>T (p.Glu173Asp) c.72A>T (p.Glu24Asp) c.3924A>T (p.Glu1308Asp) n.5447A>T | |
| 5 | g.13841854T>C | CA443256839 | DNAH5 | c.5322A>G (p.Glu1774=) c.5277A>G (p.Glu1759=) n.5529A>G c.5430A>G (p.Glu1810=) c.4335A>G (p.Glu1445=) c.519A>G (p.Glu173=) c.72A>G (p.Glu24=) c.3924A>G (p.Glu1308=) n.5447A>G | gnomAD v4 |
| 5 | g.13841854T>G | CA359212324 | DNAH5 | c.5322A>C (p.Glu1774Asp) c.5277A>C (p.Glu1759Asp) n.5529A>C c.5430A>C (p.Glu1810Asp) c.4335A>C (p.Glu1445Asp) c.519A>C (p.Glu173Asp) c.72A>C (p.Glu24Asp) c.3924A>C (p.Glu1308Asp) n.5447A>C | |
| 5 | g.13841855T>A | CA359212327 | DNAH5 | c.5321A>T (p.Glu1774Val) c.5276A>T (p.Glu1759Val) n.5528A>T c.5429A>T (p.Glu1810Val) c.4334A>T (p.Glu1445Val) c.518A>T (p.Glu173Val) c.71A>T (p.Glu24Val) c.3923A>T (p.Glu1308Val) n.5446A>T | |
| 5 | g.13841855T>C | CA359212328 | DNAH5 | c.5321A>G (p.Glu1774Gly) c.5276A>G (p.Glu1759Gly) n.5528A>G c.5429A>G (p.Glu1810Gly) c.4334A>G (p.Glu1445Gly) c.518A>G (p.Glu173Gly) c.71A>G (p.Glu24Gly) c.3923A>G (p.Glu1308Gly) n.5446A>G | |
| 5 | g.13841855T>G | CA359212329 | DNAH5 | c.5321A>C (p.Glu1774Ala) c.5276A>C (p.Glu1759Ala) n.5528A>C c.5429A>C (p.Glu1810Ala) c.4334A>C (p.Glu1445Ala) c.518A>C (p.Glu173Ala) c.71A>C (p.Glu24Ala) c.3923A>C (p.Glu1308Ala) n.5446A>C | |
| 5 | g.13841856C>A | CA359212336 | DNAH5 | c.5320G>T (p.Glu1774Ter) c.5275G>T (p.Glu1759Ter) n.5527G>T c.5428G>T (p.Glu1810Ter) c.4333G>T (p.Glu1445Ter) c.517G>T (p.Glu173Ter) c.70G>T (p.Glu24Ter) c.3922G>T (p.Glu1308Ter) n.5445G>T | |
| 5 | g.13841856C>G | CA359212334 | DNAH5 | c.5320G>C (p.Glu1774Gln) c.5275G>C (p.Glu1759Gln) n.5527G>C c.5428G>C (p.Glu1810Gln) c.4333G>C (p.Glu1445Gln) c.517G>C (p.Glu173Gln) c.70G>C (p.Glu24Gln) c.3922G>C (p.Glu1308Gln) n.5445G>C | |
| 5 | g.13841856C>T | CA359212332 | DNAH5 | c.5320G>A (p.Glu1774Lys) c.5275G>A (p.Glu1759Lys) n.5527G>A c.5428G>A (p.Glu1810Lys) c.4333G>A (p.Glu1445Lys) c.517G>A (p.Glu173Lys) c.70G>A (p.Glu24Lys) c.3922G>A (p.Glu1308Lys) n.5445G>A | gnomAD v4 COSMIC |
| 5 | g.13841857A>C | CA359212338 | DNAH5 | c.5319T>G (p.Ile1773Met) c.5274T>G (p.Ile1758Met) n.5526T>G c.5427T>G (p.Ile1809Met) c.4332T>G (p.Ile1444Met) c.516T>G (p.Ile172Met) c.69T>G (p.Ile23Met) c.3921T>G (p.Ile1307Met) n.5444T>G | |
| 5 | g.13841857A>G | CA443256849 | DNAH5 | c.5319T>C (p.Ile1773=) c.5274T>C (p.Ile1758=) n.5526T>C c.5427T>C (p.Ile1809=) c.4332T>C (p.Ile1444=) c.516T>C (p.Ile172=) c.69T>C (p.Ile23=) c.3921T>C (p.Ile1307=) n.5444T>C | |
| 5 | g.13841857A>T | CA443256855 | DNAH5 | c.5319T>A (p.Ile1773=) c.5274T>A (p.Ile1758=) n.5526T>A c.5427T>A (p.Ile1809=) c.4332T>A (p.Ile1444=) c.516T>A (p.Ile172=) c.69T>A (p.Ile23=) c.3921T>A (p.Ile1307=) n.5444T>A | ClinVar |
| 5 | g.13841858A>C | CA359212340 | DNAH5 | c.5318T>G (p.Ile1773Ser) c.5273T>G (p.Ile1758Ser) n.5525T>G c.5426T>G (p.Ile1809Ser) c.4331T>G (p.Ile1444Ser) c.515T>G (p.Ile172Ser) c.68T>G (p.Ile23Ser) c.3920T>G (p.Ile1307Ser) n.5443T>G | |
| 5 | g.13841858A>G | CA359212342 | DNAH5 | c.5318T>C (p.Ile1773Thr) c.5273T>C (p.Ile1758Thr) n.5525T>C c.5426T>C (p.Ile1809Thr) c.4331T>C (p.Ile1444Thr) c.515T>C (p.Ile172Thr) c.68T>C (p.Ile23Thr) c.3920T>C (p.Ile1307Thr) n.5443T>C | |
| 5 | g.13841858A>T | CA359212343 | DNAH5 | c.5318T>A (p.Ile1773Asn) c.5273T>A (p.Ile1758Asn) n.5525T>A c.5426T>A (p.Ile1809Asn) c.4331T>A (p.Ile1444Asn) c.515T>A (p.Ile172Asn) c.68T>A (p.Ile23Asn) c.3920T>A (p.Ile1307Asn) n.5443T>A | |
| 5 | g.13841859T>A | CA359212345 | DNAH5 | c.5317A>T (p.Ile1773Phe) c.5272A>T (p.Ile1758Phe) n.5524A>T c.5425A>T (p.Ile1809Phe) c.4330A>T (p.Ile1444Phe) c.514A>T (p.Ile172Phe) c.67A>T (p.Ile23Phe) c.3919A>T (p.Ile1307Phe) n.5442A>T | |
| 5 | g.13841859T>C | CA359212347 | DNAH5 | c.5317A>G (p.Ile1773Val) c.5272A>G (p.Ile1758Val) n.5524A>G c.5425A>G (p.Ile1809Val) c.4330A>G (p.Ile1444Val) c.514A>G (p.Ile172Val) c.67A>G (p.Ile23Val) c.3919A>G (p.Ile1307Val) n.5442A>G | |
| 5 | g.13841859T>G | CA359212349 | DNAH5 | c.5317A>C (p.Ile1773Leu) c.5272A>C (p.Ile1758Leu) n.5524A>C c.5425A>C (p.Ile1809Leu) c.4330A>C (p.Ile1444Leu) c.514A>C (p.Ile172Leu) c.67A>C (p.Ile23Leu) c.3919A>C (p.Ile1307Leu) n.5442A>C | |
| 5 | g.13841860C>A | CA443256860 | DNAH5 | c.5316G>T (p.Thr1772=) c.5271G>T (p.Thr1757=) n.5523G>T c.5424G>T (p.Thr1808=) c.4329G>T (p.Thr1443=) c.513G>T (p.Thr171=) c.66G>T (p.Thr22=) c.3918G>T (p.Thr1306=) n.5441G>T | |
| 5 | g.13841860C= | CA1528458430 | DNAH5 | c.5316G= (p.Thr1772=) c.5271G= (p.Thr1757=) n.5523G= c.5424G= (p.Thr1808=) c.4329G= (p.Thr1443=) c.513G= (p.Thr171=) c.66G= (p.Thr22=) c.3918G= (p.Thr1306=) n.5441G= | |
| 5 | g.13841860C>G | CA443256866 | DNAH5 | c.5316G>C (p.Thr1772=) c.5271G>C (p.Thr1757=) n.5523G>C c.5424G>C (p.Thr1808=) c.4329G>C (p.Thr1443=) c.513G>C (p.Thr171=) c.66G>C (p.Thr22=) c.3918G>C (p.Thr1306=) n.5441G>C | |
| 5 | g.13841860C>T | CA443256867 | DNAH5 | c.5316G>A (p.Thr1772=) c.5271G>A (p.Thr1757=) n.5523G>A c.5424G>A (p.Thr1808=) c.4329G>A (p.Thr1443=) c.513G>A (p.Thr171=) c.66G>A (p.Thr22=) c.3918G>A (p.Thr1306=) n.5441G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13841861G>A | CA3203699 | DNAH5 | c.5315C>T (p.Thr1772Met) c.5270C>T (p.Thr1757Met) n.5522C>T c.5423C>T (p.Thr1808Met) c.4328C>T (p.Thr1443Met) c.512C>T (p.Thr171Met) c.65C>T (p.Thr22Met) c.3917C>T (p.Thr1306Met) n.5440C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13841861G>C | CA3203700 | DNAH5 | c.5315C>G (p.Thr1772Arg) c.5270C>G (p.Thr1757Arg) n.5522C>G c.5423C>G (p.Thr1808Arg) c.4328C>G (p.Thr1443Arg) c.512C>G (p.Thr171Arg) c.65C>G (p.Thr22Arg) c.3917C>G (p.Thr1306Arg) n.5440C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13841861G= | CA1528458432 | DNAH5 | c.5315C= (p.Thr1772=) c.5270C= (p.Thr1757=) n.5522C= c.5423C= (p.Thr1808=) c.4328C= (p.Thr1443=) c.512C= (p.Thr171=) c.65C= (p.Thr22=) c.3917C= (p.Thr1306=) n.5440C= | |
| 5 | g.13841861G>T | CA359212353 | DNAH5 | c.5315C>A (p.Thr1772Lys) c.5270C>A (p.Thr1757Lys) n.5522C>A c.5423C>A (p.Thr1808Lys) c.4328C>A (p.Thr1443Lys) c.512C>A (p.Thr171Lys) c.65C>A (p.Thr22Lys) c.3917C>A (p.Thr1306Lys) n.5440C>A | gnomAD v4 |
| 5 | g.13841862T>A | CA359212355 | DNAH5 | c.5314A>T (p.Thr1772Ser) c.5269A>T (p.Thr1757Ser) n.5521A>T c.5422A>T (p.Thr1808Ser) c.4327A>T (p.Thr1443Ser) c.511A>T (p.Thr171Ser) c.64A>T (p.Thr22Ser) c.3916A>T (p.Thr1306Ser) n.5439A>T | |
| 5 | g.13841862T>C | CA359212357 | DNAH5 | c.5314A>G (p.Thr1772Ala) c.5269A>G (p.Thr1757Ala) n.5521A>G c.5422A>G (p.Thr1808Ala) c.4327A>G (p.Thr1443Ala) c.511A>G (p.Thr171Ala) c.64A>G (p.Thr22Ala) c.3916A>G (p.Thr1306Ala) n.5439A>G | gnomAD v4 |
| 5 | g.13841862T>G | CA359212359 | DNAH5 | c.5314A>C (p.Thr1772Pro) c.5269A>C (p.Thr1757Pro) n.5521A>C c.5422A>C (p.Thr1808Pro) c.4327A>C (p.Thr1443Pro) c.511A>C (p.Thr171Pro) c.64A>C (p.Thr22Pro) c.3916A>C (p.Thr1306Pro) n.5439A>C | |
| 5 | g.13841863C>A | CA359212362 | DNAH5 | c.5313G>T (p.Glu1771Asp) c.5268G>T (p.Glu1756Asp) n.5520G>T c.5421G>T (p.Glu1807Asp) c.4326G>T (p.Glu1442Asp) c.510G>T (p.Glu170Asp) c.63G>T (p.Glu21Asp) c.3915G>T (p.Glu1305Asp) n.5438G>T | |
| 5 | g.13841863C>G | CA359212361 | DNAH5 | c.5313G>C (p.Glu1771Asp) c.5268G>C (p.Glu1756Asp) n.5520G>C c.5421G>C (p.Glu1807Asp) c.4326G>C (p.Glu1442Asp) c.510G>C (p.Glu170Asp) c.63G>C (p.Glu21Asp) c.3915G>C (p.Glu1305Asp) n.5438G>C | |
| 5 | g.13841863C>T | CA443256878 | DNAH5 | c.5313G>A (p.Glu1771=) c.5268G>A (p.Glu1756=) n.5520G>A c.5421G>A (p.Glu1807=) c.4326G>A (p.Glu1442=) c.510G>A (p.Glu170=) c.63G>A (p.Glu21=) c.3915G>A (p.Glu1305=) n.5438G>A | |
| 5 | g.13841864T>A | CA359212365 | DNAH5 | c.5312A>T (p.Glu1771Val) c.5267A>T (p.Glu1756Val) n.5519A>T c.5420A>T (p.Glu1807Val) c.4325A>T (p.Glu1442Val) c.509A>T (p.Glu170Val) c.62A>T (p.Glu21Val) c.3914A>T (p.Glu1305Val) n.5437A>T | |
| 5 | g.13841864T>C | CA359212367 | DNAH5 | c.5312A>G (p.Glu1771Gly) c.5267A>G (p.Glu1756Gly) n.5519A>G c.5420A>G (p.Glu1807Gly) c.4325A>G (p.Glu1442Gly) c.509A>G (p.Glu170Gly) c.62A>G (p.Glu21Gly) c.3914A>G (p.Glu1305Gly) n.5437A>G | |
| 5 | g.13841864T>G | CA359212366 | DNAH5 | c.5312A>C (p.Glu1771Ala) c.5267A>C (p.Glu1756Ala) n.5519A>C c.5420A>C (p.Glu1807Ala) c.4325A>C (p.Glu1442Ala) c.509A>C (p.Glu170Ala) c.62A>C (p.Glu21Ala) c.3914A>C (p.Glu1305Ala) n.5437A>C | |
| 5 | g.13841865C>A | CA359212370 | DNAH5 | c.5311G>T (p.Glu1771Ter) c.5266G>T (p.Glu1756Ter) n.5518G>T c.5419G>T (p.Glu1807Ter) c.4324G>T (p.Glu1442Ter) c.508G>T (p.Glu170Ter) c.61G>T (p.Glu21Ter) c.3913G>T (p.Glu1305Ter) n.5436G>T | |
| 5 | g.13841865C>G | CA359212373 | DNAH5 | c.5311G>C (p.Glu1771Gln) c.5266G>C (p.Glu1756Gln) n.5518G>C c.5419G>C (p.Glu1807Gln) c.4324G>C (p.Glu1442Gln) c.508G>C (p.Glu170Gln) c.61G>C (p.Glu21Gln) c.3913G>C (p.Glu1305Gln) n.5436G>C | |
| 5 | g.13841865C>T | CA359212371 | DNAH5 | c.5311G>A (p.Glu1771Lys) c.5266G>A (p.Glu1756Lys) n.5518G>A c.5419G>A (p.Glu1807Lys) c.4324G>A (p.Glu1442Lys) c.508G>A (p.Glu170Lys) c.61G>A (p.Glu21Lys) c.3913G>A (p.Glu1305Lys) n.5436G>A | |
| 5 | g.13841866A>C | CA443256888 | DNAH5 | c.5310T>G (p.Gly1770=) c.5265T>G (p.Gly1755=) n.5517T>G c.5418T>G (p.Gly1806=) c.4323T>G (p.Gly1441=) c.507T>G (p.Gly169=) c.60T>G (p.Gly20=) c.3912T>G (p.Gly1304=) n.5435T>G | dbSNP gnomAD v4 |
| 5 | g.13841866A>G | CA443256884 | DNAH5 | c.5310T>C (p.Gly1770=) c.5265T>C (p.Gly1755=) n.5517T>C c.5418T>C (p.Gly1806=) c.4323T>C (p.Gly1441=) c.507T>C (p.Gly169=) c.60T>C (p.Gly20=) c.3912T>C (p.Gly1304=) n.5435T>C | ClinVar dbSNP |
| 5 | g.13841866A>T | CA443256886 | DNAH5 | c.5310T>A (p.Gly1770=) c.5265T>A (p.Gly1755=) n.5517T>A c.5418T>A (p.Gly1806=) c.4323T>A (p.Gly1441=) c.507T>A (p.Gly169=) c.60T>A (p.Gly20=) c.3912T>A (p.Gly1304=) n.5435T>A | |
| 5 | g.13841867C>A | CA359212374 | DNAH5 | c.5309G>T (p.Gly1770Val) c.5264G>T (p.Gly1755Val) n.5516G>T c.5417G>T (p.Gly1806Val) c.4322G>T (p.Gly1441Val) c.506G>T (p.Gly169Val) c.59G>T (p.Gly20Val) c.3911G>T (p.Gly1304Val) n.5434G>T | |
| 5 | g.13841867C>G | CA359212378 | DNAH5 | c.5309G>C (p.Gly1770Ala) c.5264G>C (p.Gly1755Ala) n.5516G>C c.5417G>C (p.Gly1806Ala) c.4322G>C (p.Gly1441Ala) c.506G>C (p.Gly169Ala) c.59G>C (p.Gly20Ala) c.3911G>C (p.Gly1304Ala) n.5434G>C | |
| 5 | g.13841867C>T | CA359212376 | DNAH5 | c.5309G>A (p.Gly1770Asp) c.5264G>A (p.Gly1755Asp) n.5516G>A c.5417G>A (p.Gly1806Asp) c.4322G>A (p.Gly1441Asp) c.506G>A (p.Gly169Asp) c.59G>A (p.Gly20Asp) c.3911G>A (p.Gly1304Asp) n.5434G>A | |
| 5 | g.13841868C>A | CA359212379 | DNAH5 | c.5308G>T (p.Gly1770Cys) c.5263G>T (p.Gly1755Cys) n.5515G>T c.5416G>T (p.Gly1806Cys) c.4321G>T (p.Gly1441Cys) c.505G>T (p.Gly169Cys) c.58G>T (p.Gly20Cys) c.3910G>T (p.Gly1304Cys) n.5433G>T | dbSNP gnomAD v2 |
| 5 | g.13841868C= | CA1528458434 | DNAH5 | c.5308G= (p.Gly1770=) c.5263G= (p.Gly1755=) n.5515G= c.5416G= (p.Gly1806=) c.4321G= (p.Gly1441=) c.505G= (p.Gly169=) c.58G= (p.Gly20=) c.3910G= (p.Gly1304=) n.5433G= | |
| 5 | g.13841868C>G | CA359212383 | DNAH5 | c.5308G>C (p.Gly1770Arg) c.5263G>C (p.Gly1755Arg) n.5515G>C c.5416G>C (p.Gly1806Arg) c.4321G>C (p.Gly1441Arg) c.505G>C (p.Gly169Arg) c.58G>C (p.Gly20Arg) c.3910G>C (p.Gly1304Arg) n.5433G>C | |
| 5 | g.13841868C>T | CA359212381 | DNAH5 | c.5308G>A (p.Gly1770Ser) c.5263G>A (p.Gly1755Ser) n.5515G>A c.5416G>A (p.Gly1806Ser) c.4321G>A (p.Gly1441Ser) c.505G>A (p.Gly169Ser) c.58G>A (p.Gly20Ser) c.3910G>A (p.Gly1304Ser) n.5433G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13841869C>A | CA359212385 | DNAH5 | c.5307G>T (p.Glu1769Asp) c.5262G>T (p.Glu1754Asp) n.5514G>T c.5415G>T (p.Glu1805Asp) c.4320G>T (p.Glu1440Asp) c.504G>T (p.Glu168Asp) c.57G>T (p.Glu19Asp) c.3909G>T (p.Glu1303Asp) n.5432G>T | |
| 5 | g.13841869C>G | CA359212386 | DNAH5 | c.5307G>C (p.Glu1769Asp) c.5262G>C (p.Glu1754Asp) n.5514G>C c.5415G>C (p.Glu1805Asp) c.4320G>C (p.Glu1440Asp) c.504G>C (p.Glu168Asp) c.57G>C (p.Glu19Asp) c.3909G>C (p.Glu1303Asp) n.5432G>C | |
| 5 | g.13841869C>T | CA443256898 | DNAH5 | c.5307G>A (p.Glu1769=) c.5262G>A (p.Glu1754=) n.5514G>A c.5415G>A (p.Glu1805=) c.4320G>A (p.Glu1440=) c.504G>A (p.Glu168=) c.57G>A (p.Glu19=) c.3909G>A (p.Glu1303=) n.5432G>A | gnomAD v4 |
| 5 | g.13841870T>A | CA359212387 | DNAH5 | c.5306A>T (p.Glu1769Val) c.5261A>T (p.Glu1754Val) n.5513A>T c.5414A>T (p.Glu1805Val) c.4319A>T (p.Glu1440Val) c.503A>T (p.Glu168Val) c.56A>T (p.Glu19Val) c.3908A>T (p.Glu1303Val) n.5431A>T | |
| 5 | g.13841870T>C | CA359212389 | DNAH5 | c.5306A>G (p.Glu1769Gly) c.5261A>G (p.Glu1754Gly) n.5513A>G c.5414A>G (p.Glu1805Gly) c.4319A>G (p.Glu1440Gly) c.503A>G (p.Glu168Gly) c.56A>G (p.Glu19Gly) c.3908A>G (p.Glu1303Gly) n.5431A>G | |
| 5 | g.13841870T>G | CA359212390 | DNAH5 | c.5306A>C (p.Glu1769Ala) c.5261A>C (p.Glu1754Ala) n.5513A>C c.5414A>C (p.Glu1805Ala) c.4319A>C (p.Glu1440Ala) c.503A>C (p.Glu168Ala) c.56A>C (p.Glu19Ala) c.3908A>C (p.Glu1303Ala) n.5431A>C | |
| 5 | g.13841871C>A | CA359212392 | DNAH5 | c.5305G>T (p.Glu1769Ter) c.5260G>T (p.Glu1754Ter) n.5512G>T c.5413G>T (p.Glu1805Ter) c.4318G>T (p.Glu1440Ter) c.502G>T (p.Glu168Ter) c.55G>T (p.Glu19Ter) c.3907G>T (p.Glu1303Ter) n.5430G>T | |
| 5 | g.13841871C>G | CA359212393 | DNAH5 | c.5305G>C (p.Glu1769Gln) c.5260G>C (p.Glu1754Gln) n.5512G>C c.5413G>C (p.Glu1805Gln) c.4318G>C (p.Glu1440Gln) c.502G>C (p.Glu168Gln) c.55G>C (p.Glu19Gln) c.3907G>C (p.Glu1303Gln) n.5430G>C | |
| 5 | g.13841871C>T | CA359212394 | DNAH5 | c.5305G>A (p.Glu1769Lys) c.5260G>A (p.Glu1754Lys) n.5512G>A c.5413G>A (p.Glu1805Lys) c.4318G>A (p.Glu1440Lys) c.502G>A (p.Glu168Lys) c.55G>A (p.Glu19Lys) c.3907G>A (p.Glu1303Lys) n.5430G>A | |
| 5 | g.13841872T>A | CA359212396 | DNAH5 | c.5304A>T (p.Gln1768His) c.5259A>T (p.Gln1753His) n.5511A>T c.5412A>T (p.Gln1804His) c.4317A>T (p.Gln1439His) c.501A>T (p.Gln167His) c.54A>T (p.Gln18His) c.3906A>T (p.Gln1302His) n.5429A>T | |
| 5 | g.13841872T>C | CA443256904 | DNAH5 | c.5304A>G (p.Gln1768=) c.5259A>G (p.Gln1753=) n.5511A>G c.5412A>G (p.Gln1804=) c.4317A>G (p.Gln1439=) c.501A>G (p.Gln167=) c.54A>G (p.Gln18=) c.3906A>G (p.Gln1302=) n.5429A>G | gnomAD v4 |
| 5 | g.13841872T>G | CA359212398 | DNAH5 | c.5304A>C (p.Gln1768His) c.5259A>C (p.Gln1753His) n.5511A>C c.5412A>C (p.Gln1804His) c.4317A>C (p.Gln1439His) c.501A>C (p.Gln167His) c.54A>C (p.Gln18His) c.3906A>C (p.Gln1302His) n.5429A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13841872T= | CA1528458436 | DNAH5 | c.5304A= (p.Gln1768=) c.5259A= (p.Gln1753=) n.5511A= c.5412A= (p.Gln1804=) c.4317A= (p.Gln1439=) c.501A= (p.Gln167=) c.54A= (p.Gln18=) c.3906A= (p.Gln1302=) n.5429A= | |
| 5 | g.13841872_13841873del | CA2673274331 | DNAH5 | c.5303_5304del (p.Gln1768ArgfsTer3) c.5258_5259del (p.Gln1753ArgfsTer3) n.5510_5511del c.5411_5412del (p.Gln1804ArgfsTer3) c.4316_4317del (p.Gln1439ArgfsTer3) c.500_501del (p.Gln167ArgfsTer3) c.53_54del (p.Gln18ArgfsTer3) c.3905_3906del (p.Gln1302ArgfsTer3) n.5428_5429del | gnomAD v4 |
| 5 | g.13841873T>A | CA359212404 | DNAH5 | c.5303A>T (p.Gln1768Leu) c.5258A>T (p.Gln1753Leu) n.5510A>T c.5411A>T (p.Gln1804Leu) c.4316A>T (p.Gln1439Leu) c.500A>T (p.Gln167Leu) c.53A>T (p.Gln18Leu) c.3905A>T (p.Gln1302Leu) n.5428A>T | |
| 5 | g.13841873T>C | CA359212402 | DNAH5 | c.5303A>G (p.Gln1768Arg) c.5258A>G (p.Gln1753Arg) n.5510A>G c.5411A>G (p.Gln1804Arg) c.4316A>G (p.Gln1439Arg) c.500A>G (p.Gln167Arg) c.53A>G (p.Gln18Arg) c.3905A>G (p.Gln1302Arg) n.5428A>G | gnomAD v4 COSMIC |
| 5 | g.13841873T>G | CA3203701 | DNAH5 | c.5303A>C (p.Gln1768Pro) c.5258A>C (p.Gln1753Pro) n.5510A>C c.5411A>C (p.Gln1804Pro) c.4316A>C (p.Gln1439Pro) c.500A>C (p.Gln167Pro) c.53A>C (p.Gln18Pro) c.3905A>C (p.Gln1302Pro) n.5428A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13841873T= | CA1528458438 | DNAH5 | c.5303A= (p.Gln1768=) c.5258A= (p.Gln1753=) n.5510A= c.5411A= (p.Gln1804=) c.4316A= (p.Gln1439=) c.500A= (p.Gln167=) c.53A= (p.Gln18=) c.3905A= (p.Gln1302=) n.5428A= |