Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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] | |
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 | |
5 | g.13841769C>A | CA359211385 | DNAH5 | c.5407G>T (p.Val1803Leu) c.5362G>T (p.Val1788Leu) n.5614G>T c.5515G>T (p.Val1839Leu) c.4420G>T (p.Val1474Leu) c.604G>T (p.Val202Leu) c.157G>T (p.Val53Leu) c.4009G>T (p.Val1337Leu) n.5532G>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13841769C= | CA1528458372 | DNAH5 | c.5407G= (p.Val1803=) c.5362G= (p.Val1788=) n.5614G= c.5515G= (p.Val1839=) c.4420G= (p.Val1474=) c.604G= (p.Val202=) c.157G= (p.Val53=) c.4009G= (p.Val1337=) n.5532G= | |
5 | g.13841769C>G | CA359211388 | DNAH5 | c.5407G>C (p.Val1803Leu) c.5362G>C (p.Val1788Leu) n.5614G>C c.5515G>C (p.Val1839Leu) c.4420G>C (p.Val1474Leu) c.604G>C (p.Val202Leu) c.157G>C (p.Val53Leu) c.4009G>C (p.Val1337Leu) n.5532G>C | |
5 | g.13841769C>T | CA359211391 | DNAH5 | c.5407G>A (p.Val1803Met) c.5362G>A (p.Val1788Met) n.5614G>A c.5515G>A (p.Val1839Met) c.4420G>A (p.Val1474Met) c.604G>A (p.Val202Met) c.157G>A (p.Val53Met) c.4009G>A (p.Val1337Met) n.5532G>A | |
5 | g.13841770A>C | CA443256182 | DNAH5 | c.5406T>G (p.Leu1802=) c.5361T>G (p.Leu1787=) n.5613T>G c.5514T>G (p.Leu1838=) c.4419T>G (p.Leu1473=) c.603T>G (p.Leu201=) c.156T>G (p.Leu52=) c.4008T>G (p.Leu1336=) n.5531T>G | |
5 | g.13841770A>G | CA443256184 | DNAH5 | c.5406T>C (p.Leu1802=) c.5361T>C (p.Leu1787=) n.5613T>C c.5514T>C (p.Leu1838=) c.4419T>C (p.Leu1473=) c.603T>C (p.Leu201=) c.156T>C (p.Leu52=) c.4008T>C (p.Leu1336=) n.5531T>C | gnomAD v4 |
5 | g.13841770A>T | CA443256187 | DNAH5 | c.5406T>A (p.Leu1802=) c.5361T>A (p.Leu1787=) n.5613T>A c.5514T>A (p.Leu1838=) c.4419T>A (p.Leu1473=) c.603T>A (p.Leu201=) c.156T>A (p.Leu52=) c.4008T>A (p.Leu1336=) n.5531T>A | |
5 | g.13841771A>C | CA359211397 | DNAH5 | c.5405T>G (p.Leu1802Arg) c.5360T>G (p.Leu1787Arg) n.5612T>G c.5513T>G (p.Leu1838Arg) c.4418T>G (p.Leu1473Arg) c.602T>G (p.Leu201Arg) c.155T>G (p.Leu52Arg) c.4007T>G (p.Leu1336Arg) n.5530T>G | |
5 | g.13841771A>G | CA359211411 | DNAH5 | c.5405T>C (p.Leu1802Pro) c.5360T>C (p.Leu1787Pro) n.5612T>C c.5513T>C (p.Leu1838Pro) c.4418T>C (p.Leu1473Pro) c.602T>C (p.Leu201Pro) c.155T>C (p.Leu52Pro) c.4007T>C (p.Leu1336Pro) n.5530T>C | |
5 | g.13841771A>T | CA359211425 | DNAH5 | c.5405T>A (p.Leu1802His) c.5360T>A (p.Leu1787His) n.5612T>A c.5513T>A (p.Leu1838His) c.4418T>A (p.Leu1473His) c.602T>A (p.Leu201His) c.155T>A (p.Leu52His) c.4007T>A (p.Leu1336His) n.5530T>A | |
5 | g.13841772G>A | CA359211428 | DNAH5 | c.5404C>T (p.Leu1802Phe) c.5359C>T (p.Leu1787Phe) n.5611C>T c.5512C>T (p.Leu1838Phe) c.4417C>T (p.Leu1473Phe) c.601C>T (p.Leu201Phe) c.154C>T (p.Leu52Phe) c.4006C>T (p.Leu1336Phe) n.5529C>T | dbSNP gnomAD v4 |
5 | g.13841772G>C | CA359211429 | DNAH5 | c.5404C>G (p.Leu1802Val) c.5359C>G (p.Leu1787Val) n.5611C>G c.5512C>G (p.Leu1838Val) c.4417C>G (p.Leu1473Val) c.601C>G (p.Leu201Val) c.154C>G (p.Leu52Val) c.4006C>G (p.Leu1336Val) n.5529C>G | |
5 | g.13841772G= | CA1528458374 | DNAH5 | c.5404C= (p.Leu1802=) c.5359C= (p.Leu1787=) n.5611C= c.5512C= (p.Leu1838=) c.4417C= (p.Leu1473=) c.601C= (p.Leu201=) c.154C= (p.Leu52=) c.4006C= (p.Leu1336=) n.5529C= | |
5 | g.13841772G>T | CA359211431 | DNAH5 | c.5404C>A (p.Leu1802Ile) c.5359C>A (p.Leu1787Ile) n.5611C>A c.5512C>A (p.Leu1838Ile) c.4417C>A (p.Leu1473Ile) c.601C>A (p.Leu201Ile) c.154C>A (p.Leu52Ile) c.4006C>A (p.Leu1336Ile) n.5529C>A | |
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 |