Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | ClinVar 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= | |
5 | g.13841874G>A | CA359212406 | DNAH5 | c.5302C>T (p.Gln1768Ter) c.5257C>T (p.Gln1753Ter) n.5509C>T c.5410C>T (p.Gln1804Ter) c.4315C>T (p.Gln1439Ter) c.499C>T (p.Gln167Ter) c.52C>T (p.Gln18Ter) c.3904C>T (p.Gln1302Ter) n.5427C>T | gnomAD v4 |
5 | g.13841874G>C | CA359212408 | DNAH5 | c.5302C>G (p.Gln1768Glu) c.5257C>G (p.Gln1753Glu) n.5509C>G c.5410C>G (p.Gln1804Glu) c.4315C>G (p.Gln1439Glu) c.499C>G (p.Gln167Glu) c.52C>G (p.Gln18Glu) c.3904C>G (p.Gln1302Glu) n.5427C>G | |
5 | g.13841874G>T | CA359212410 | DNAH5 | c.5302C>A (p.Gln1768Lys) c.5257C>A (p.Gln1753Lys) n.5509C>A c.5410C>A (p.Gln1804Lys) c.4315C>A (p.Gln1439Lys) c.499C>A (p.Gln167Lys) c.52C>A (p.Gln18Lys) c.3904C>A (p.Gln1302Lys) n.5427C>A | gnomAD v4 |
5 | g.13841875A>C | CA443256912 | DNAH5 | c.5301T>G (p.Ser1767=) c.5256T>G (p.Ser1752=) n.5508T>G c.5409T>G (p.Ser1803=) c.4314T>G (p.Ser1438=) c.498T>G (p.Ser166=) c.51T>G (p.Ser17=) c.3903T>G (p.Ser1301=) n.5426T>G | |
5 | g.13841875A>G | CA443256913 | DNAH5 | c.5301T>C (p.Ser1767=) c.5256T>C (p.Ser1752=) n.5508T>C c.5409T>C (p.Ser1803=) c.4314T>C (p.Ser1438=) c.498T>C (p.Ser166=) c.51T>C (p.Ser17=) c.3903T>C (p.Ser1301=) n.5426T>C | |
5 | g.13841875A>T | CA443256914 | DNAH5 | c.5301T>A (p.Ser1767=) c.5256T>A (p.Ser1752=) n.5508T>A c.5409T>A (p.Ser1803=) c.4314T>A (p.Ser1438=) c.498T>A (p.Ser166=) c.51T>A (p.Ser17=) c.3903T>A (p.Ser1301=) n.5426T>A | COSMIC |
5 | g.13841876G>A | CA359212411 | DNAH5 | c.5300C>T (p.Ser1767Phe) c.5255C>T (p.Ser1752Phe) n.5507C>T c.5408C>T (p.Ser1803Phe) c.4313C>T (p.Ser1438Phe) c.497C>T (p.Ser166Phe) c.50C>T (p.Ser17Phe) c.3902C>T (p.Ser1301Phe) n.5425C>T | gnomAD v4 |
5 | g.13841876G>C | CA359212412 | DNAH5 | c.5300C>G (p.Ser1767Cys) c.5255C>G (p.Ser1752Cys) n.5507C>G c.5408C>G (p.Ser1803Cys) c.4313C>G (p.Ser1438Cys) c.497C>G (p.Ser166Cys) c.50C>G (p.Ser17Cys) c.3902C>G (p.Ser1301Cys) n.5425C>G | |
5 | g.13841876G>T | CA359212414 | DNAH5 | c.5300C>A (p.Ser1767Tyr) c.5255C>A (p.Ser1752Tyr) n.5507C>A c.5408C>A (p.Ser1803Tyr) c.4313C>A (p.Ser1438Tyr) c.497C>A (p.Ser166Tyr) c.50C>A (p.Ser17Tyr) c.3902C>A (p.Ser1301Tyr) n.5425C>A | gnomAD v4 |
5 | g.13841877A>C | CA359212416 | DNAH5 | c.5299T>G (p.Ser1767Ala) c.5254T>G (p.Ser1752Ala) n.5506T>G c.5407T>G (p.Ser1803Ala) c.4312T>G (p.Ser1438Ala) c.496T>G (p.Ser166Ala) c.49T>G (p.Ser17Ala) c.3901T>G (p.Ser1301Ala) n.5424T>G | |
5 | g.13841877A>G | CA359212418 | DNAH5 | c.5299T>C (p.Ser1767Pro) c.5254T>C (p.Ser1752Pro) n.5506T>C c.5407T>C (p.Ser1803Pro) c.4312T>C (p.Ser1438Pro) c.496T>C (p.Ser166Pro) c.49T>C (p.Ser17Pro) c.3901T>C (p.Ser1301Pro) n.5424T>C | |
5 | g.13841877A>T | CA359212419 | DNAH5 | c.5299T>A (p.Ser1767Thr) c.5254T>A (p.Ser1752Thr) n.5506T>A c.5407T>A (p.Ser1803Thr) c.4312T>A (p.Ser1438Thr) c.496T>A (p.Ser166Thr) c.49T>A (p.Ser17Thr) c.3901T>A (p.Ser1301Thr) n.5424T>A | |
5 | g.13841878G>A | CA443256928 | DNAH5 | c.5298C>T (p.Ser1766=) c.5253C>T (p.Ser1751=) n.5505C>T c.5406C>T (p.Ser1802=) c.4311C>T (p.Ser1437=) c.495C>T (p.Ser165=) c.48C>T (p.Ser16=) c.3900C>T (p.Ser1300=) n.5423C>T | gnomAD v4 |
5 | g.13841878G>C | CA443256929 | DNAH5 | c.5298C>G (p.Ser1766=) c.5253C>G (p.Ser1751=) n.5505C>G c.5406C>G (p.Ser1802=) c.4311C>G (p.Ser1437=) c.495C>G (p.Ser165=) c.48C>G (p.Ser16=) c.3900C>G (p.Ser1300=) n.5423C>G | |
5 | g.13841878G>T | CA443256932 | DNAH5 | c.5298C>A (p.Ser1766=) c.5253C>A (p.Ser1751=) n.5505C>A c.5406C>A (p.Ser1802=) c.4311C>A (p.Ser1437=) c.495C>A (p.Ser165=) c.48C>A (p.Ser16=) c.3900C>A (p.Ser1300=) n.5423C>A | |
5 | g.13841879G>A | CA359212421 | DNAH5 | c.5297C>T (p.Ser1766Phe) c.5252C>T (p.Ser1751Phe) n.5504C>T c.5405C>T (p.Ser1802Phe) c.4310C>T (p.Ser1437Phe) c.494C>T (p.Ser165Phe) c.47C>T (p.Ser16Phe) c.3899C>T (p.Ser1300Phe) n.5422C>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13841879G>C | CA359212423 | DNAH5 | c.5297C>G (p.Ser1766Cys) c.5252C>G (p.Ser1751Cys) n.5504C>G c.5405C>G (p.Ser1802Cys) c.4310C>G (p.Ser1437Cys) c.494C>G (p.Ser165Cys) c.47C>G (p.Ser16Cys) c.3899C>G (p.Ser1300Cys) n.5422C>G | |
5 | g.13841879G= | CA1528458440 | DNAH5 | c.5297C= (p.Ser1766=) c.5252C= (p.Ser1751=) n.5504C= c.5405C= (p.Ser1802=) c.4310C= (p.Ser1437=) c.494C= (p.Ser165=) c.47C= (p.Ser16=) c.3899C= (p.Ser1300=) n.5422C= | |
5 | g.13841879G>T | CA359212425 | DNAH5 | c.5297C>A (p.Ser1766Tyr) c.5252C>A (p.Ser1751Tyr) n.5504C>A c.5405C>A (p.Ser1802Tyr) c.4310C>A (p.Ser1437Tyr) c.494C>A (p.Ser165Tyr) c.47C>A (p.Ser16Tyr) c.3899C>A (p.Ser1300Tyr) n.5422C>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13841880A>C | CA359212430 | DNAH5 | c.5296T>G (p.Ser1766Ala) c.5251T>G (p.Ser1751Ala) n.5503T>G c.5404T>G (p.Ser1802Ala) c.4309T>G (p.Ser1437Ala) c.493T>G (p.Ser165Ala) c.46T>G (p.Ser16Ala) c.3898T>G (p.Ser1300Ala) n.5421T>G | gnomAD v4 |
5 | g.13841880A>G | CA359212428 | DNAH5 | c.5296T>C (p.Ser1766Pro) c.5251T>C (p.Ser1751Pro) n.5503T>C c.5404T>C (p.Ser1802Pro) c.4309T>C (p.Ser1437Pro) c.493T>C (p.Ser165Pro) c.46T>C (p.Ser16Pro) c.3898T>C (p.Ser1300Pro) n.5421T>C | gnomAD v4 |
5 | g.13841880A>T | CA359212427 | DNAH5 | c.5296T>A (p.Ser1766Thr) c.5251T>A (p.Ser1751Thr) n.5503T>A c.5404T>A (p.Ser1802Thr) c.4309T>A (p.Ser1437Thr) c.493T>A (p.Ser165Thr) c.46T>A (p.Ser16Thr) c.3898T>A (p.Ser1300Thr) n.5421T>A | |
5 | g.13841881A>C | CA359212431 | DNAH5 | c.5295T>G (p.Ile1765Met) c.5250T>G (p.Ile1750Met) n.5502T>G c.5403T>G (p.Ile1801Met) c.4308T>G (p.Ile1436Met) c.492T>G (p.Ile164Met) c.45T>G (p.Ile15Met) c.3897T>G (p.Ile1299Met) n.5420T>G | |
5 | g.13841881A>G | CA443256938 | DNAH5 | c.5295T>C (p.Ile1765=) c.5250T>C (p.Ile1750=) n.5502T>C c.5403T>C (p.Ile1801=) c.4308T>C (p.Ile1436=) c.492T>C (p.Ile164=) c.45T>C (p.Ile15=) c.3897T>C (p.Ile1299=) n.5420T>C | |
5 | g.13841881A>T | CA443256939 | DNAH5 | c.5295T>A (p.Ile1765=) c.5250T>A (p.Ile1750=) n.5502T>A c.5403T>A (p.Ile1801=) c.4308T>A (p.Ile1436=) c.492T>A (p.Ile164=) c.45T>A (p.Ile15=) c.3897T>A (p.Ile1299=) n.5420T>A | |
5 | g.13841882A= | CA1528458442 | DNAH5 | c.5294T= (p.Ile1765=) c.5249T= (p.Ile1750=) n.5501T= c.5402T= (p.Ile1801=) c.4307T= (p.Ile1436=) c.491T= (p.Ile164=) c.44T= (p.Ile15=) c.3896T= (p.Ile1299=) n.5419T= | |
5 | g.13841882A>C | CA359212432 | DNAH5 | c.5294T>G (p.Ile1765Ser) c.5249T>G (p.Ile1750Ser) n.5501T>G c.5402T>G (p.Ile1801Ser) c.4307T>G (p.Ile1436Ser) c.491T>G (p.Ile164Ser) c.44T>G (p.Ile15Ser) c.3896T>G (p.Ile1299Ser) n.5419T>G | |
5 | g.13841882A>G | CA3203702 | DNAH5 | c.5294T>C (p.Ile1765Thr) c.5249T>C (p.Ile1750Thr) n.5501T>C c.5402T>C (p.Ile1801Thr) c.4307T>C (p.Ile1436Thr) c.491T>C (p.Ile164Thr) c.44T>C (p.Ile15Thr) c.3896T>C (p.Ile1299Thr) n.5419T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13841882A>T | CA359212435 | DNAH5 | c.5294T>A (p.Ile1765Asn) c.5249T>A (p.Ile1750Asn) n.5501T>A c.5402T>A (p.Ile1801Asn) c.4307T>A (p.Ile1436Asn) c.491T>A (p.Ile164Asn) c.44T>A (p.Ile15Asn) c.3896T>A (p.Ile1299Asn) n.5419T>A | |
5 | g.13841883T>A | CA359212436 | DNAH5 | c.5293A>T (p.Ile1765Phe) c.5248A>T (p.Ile1750Phe) n.5500A>T c.5401A>T (p.Ile1801Phe) c.4306A>T (p.Ile1436Phe) c.490A>T (p.Ile164Phe) c.43A>T (p.Ile15Phe) c.3895A>T (p.Ile1299Phe) n.5418A>T | |
5 | g.13841883T>C | CA3203703 | DNAH5 | c.5293A>G (p.Ile1765Val) c.5248A>G (p.Ile1750Val) n.5500A>G c.5401A>G (p.Ile1801Val) c.4306A>G (p.Ile1436Val) c.490A>G (p.Ile164Val) c.43A>G (p.Ile15Val) c.3895A>G (p.Ile1299Val) n.5418A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13841883T>G | CA359212439 | DNAH5 | c.5293A>C (p.Ile1765Leu) c.5248A>C (p.Ile1750Leu) n.5500A>C c.5401A>C (p.Ile1801Leu) c.4306A>C (p.Ile1436Leu) c.490A>C (p.Ile164Leu) c.43A>C (p.Ile15Leu) c.3895A>C (p.Ile1299Leu) n.5418A>C | |
5 | g.13841883T= | CA1528458443 | DNAH5 | c.5293A= (p.Ile1765=) c.5248A= (p.Ile1750=) n.5500A= c.5401A= (p.Ile1801=) c.4306A= (p.Ile1436=) c.490A= (p.Ile164=) c.43A= (p.Ile15=) c.3895A= (p.Ile1299=) n.5418A= | |
5 | g.13841883_13841885del | CA2673274332 | DNAH5 | c.5291_5293del (p.Ser1764_Ile1765delinsPhe) c.5246_5248del (p.Ser1749_Ile1750delinsPhe) n.5498_5500del c.5399_5401del (p.Ser1800_Ile1801delinsPhe) c.4304_4306del (p.Ser1435_Ile1436delinsPhe) c.488_490del (p.Ser163_Ile164delinsPhe) c.41_43del (p.Ser14_Ile15delinsPhe) c.3893_3895del (p.Ser1298_Ile1299delinsPhe) n.5416_5418del | gnomAD v4 |
5 | g.13841883_13841889del | CA2673274334 | DNAH5 | c.5287_5293del (p.Leu1763PhefsTer?) c.5242_5248del (p.Leu1748PhefsTer?) n.5494_5500del c.5395_5401del (p.Leu1799PhefsTer?) c.4300_4306del (p.Leu1434PhefsTer?) c.484_490del (p.Leu162PhefsTer?) c.37_43del (p.Leu13PhefsTer?) c.3889_3895del (p.Leu1297PhefsTer?) n.5412_5418del | gnomAD v4 |
5 | g.13841883_13841918del | CA2673274333 | DNAH5 | c.5272-14_5293del c.5227-14_5248del n.5479-14_5500del c.5380-14_5401del c.4285-14_4306del c.469-14_490del c.22-14_43del c.3874-14_3895del n.5397-14_5418del | gnomAD v4 |
5 | g.13841884T>A | CA443256951 | DNAH5 | c.5292A>T (p.Ser1764=) c.5247A>T (p.Ser1749=) n.5499A>T c.5400A>T (p.Ser1800=) c.4305A>T (p.Ser1435=) c.489A>T (p.Ser163=) c.42A>T (p.Ser14=) c.3894A>T (p.Ser1298=) n.5417A>T | |
5 | g.13841884T>C | CA443256953 | DNAH5 | c.5292A>G (p.Ser1764=) c.5247A>G (p.Ser1749=) n.5499A>G c.5400A>G (p.Ser1800=) c.4305A>G (p.Ser1435=) c.489A>G (p.Ser163=) c.42A>G (p.Ser14=) c.3894A>G (p.Ser1298=) n.5417A>G | |
5 | g.13841884T>G | CA443256954 | DNAH5 | c.5292A>C (p.Ser1764=) c.5247A>C (p.Ser1749=) n.5499A>C c.5400A>C (p.Ser1800=) c.4305A>C (p.Ser1435=) c.489A>C (p.Ser163=) c.42A>C (p.Ser14=) c.3894A>C (p.Ser1298=) n.5417A>C | |
5 | g.13841884T= | CA1528458445 | DNAH5 | c.5292A= (p.Ser1764=) c.5247A= (p.Ser1749=) n.5499A= c.5400A= (p.Ser1800=) c.4305A= (p.Ser1435=) c.489A= (p.Ser163=) c.42A= (p.Ser14=) c.3894A= (p.Ser1298=) n.5417A= | |
5 | g.13841885G>A | CA359212441 | DNAH5 | c.5291C>T (p.Ser1764Leu) c.5246C>T (p.Ser1749Leu) n.5498C>T c.5399C>T (p.Ser1800Leu) c.4304C>T (p.Ser1435Leu) c.488C>T (p.Ser163Leu) c.41C>T (p.Ser14Leu) c.3893C>T (p.Ser1298Leu) n.5416C>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13841885G>C | CA359212443 | DNAH5 | c.5291C>G (p.Ser1764Ter) c.5246C>G (p.Ser1749Ter) n.5498C>G c.5399C>G (p.Ser1800Ter) c.4304C>G (p.Ser1435Ter) c.488C>G (p.Ser163Ter) c.41C>G (p.Ser14Ter) c.3893C>G (p.Ser1298Ter) n.5416C>G | |
5 | g.13841885G= | CA1528458447 | DNAH5 | c.5291C= (p.Ser1764=) c.5246C= (p.Ser1749=) n.5498C= c.5399C= (p.Ser1800=) c.4304C= (p.Ser1435=) c.488C= (p.Ser163=) c.41C= (p.Ser14=) c.3893C= (p.Ser1298=) n.5416C= | |
5 | g.13841885G>T | CA359212445 | DNAH5 | c.5291C>A (p.Ser1764Ter) c.5246C>A (p.Ser1749Ter) n.5498C>A c.5399C>A (p.Ser1800Ter) c.4304C>A (p.Ser1435Ter) c.488C>A (p.Ser163Ter) c.41C>A (p.Ser14Ter) c.3893C>A (p.Ser1298Ter) n.5416C>A | gnomAD v4 |
5 | g.13841886_13841887insGGA | CA3203704 | DNAH5 | c.5291_5292insCTC (p.Ser1764_Ile1765insSer) c.5246_5247insCTC (p.Ser1749_Ile1750insSer) n.5498_5499insCTC c.5399_5400insCTC (p.Ser1800_Ile1801insSer) c.4304_4305insCTC (p.Ser1435_Ile1436insSer) c.488_489insCTC (p.Ser163_Ile164insSer) c.41_42insCTC (p.Ser14_Ile15insSer) c.3893_3894insCTC (p.Ser1298_Ile1299insSer) n.5416_5417insCTC | dbSNP ExAC |
5 | g.13841886A= | CA1528458449 | DNAH5 | c.5290T= (p.Ser1764=) c.5245T= (p.Ser1749=) n.5497T= c.5398T= (p.Ser1800=) c.4303T= (p.Ser1435=) c.487T= (p.Ser163=) c.40T= (p.Ser14=) c.3892T= (p.Ser1298=) n.5415T= | |
5 | g.13841886A>C | CA359212447 | DNAH5 | c.5290T>G (p.Ser1764Ala) c.5245T>G (p.Ser1749Ala) n.5497T>G c.5398T>G (p.Ser1800Ala) c.4303T>G (p.Ser1435Ala) c.487T>G (p.Ser163Ala) c.40T>G (p.Ser14Ala) c.3892T>G (p.Ser1298Ala) n.5415T>G | |
5 | g.13841886A>G | CA3203705 | DNAH5 | c.5290T>C (p.Ser1764Pro) c.5245T>C (p.Ser1749Pro) n.5497T>C c.5398T>C (p.Ser1800Pro) c.4303T>C (p.Ser1435Pro) c.487T>C (p.Ser163Pro) c.40T>C (p.Ser14Pro) c.3892T>C (p.Ser1298Pro) n.5415T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13841886A>T | CA359212450 | DNAH5 | c.5290T>A (p.Ser1764Thr) c.5245T>A (p.Ser1749Thr) n.5497T>A c.5398T>A (p.Ser1800Thr) c.4303T>A (p.Ser1435Thr) c.487T>A (p.Ser163Thr) c.40T>A (p.Ser14Thr) c.3892T>A (p.Ser1298Thr) n.5415T>A | |
5 | g.13841887C>A | CA443256966 | DNAH5 | c.5289G>T (p.Leu1763=) c.5244G>T (p.Leu1748=) n.5496G>T c.5397G>T (p.Leu1799=) c.4302G>T (p.Leu1434=) c.486G>T (p.Leu162=) c.39G>T (p.Leu13=) c.3891G>T (p.Leu1297=) n.5414G>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13841887C= | CA1528458450 | DNAH5 | c.5289G= (p.Leu1763=) c.5244G= (p.Leu1748=) n.5496G= c.5397G= (p.Leu1799=) c.4302G= (p.Leu1434=) c.486G= (p.Leu162=) c.39G= (p.Leu13=) c.3891G= (p.Leu1297=) n.5414G= | |
5 | g.13841887C>G | CA443256968 | DNAH5 | c.5289G>C (p.Leu1763=) c.5244G>C (p.Leu1748=) n.5496G>C c.5397G>C (p.Leu1799=) c.4302G>C (p.Leu1434=) c.486G>C (p.Leu162=) c.39G>C (p.Leu13=) c.3891G>C (p.Leu1297=) n.5414G>C | gnomAD v4 |
5 | g.13841887C>T | CA443256964 | DNAH5 | c.5289G>A (p.Leu1763=) c.5244G>A (p.Leu1748=) n.5496G>A c.5397G>A (p.Leu1799=) c.4302G>A (p.Leu1434=) c.486G>A (p.Leu162=) c.39G>A (p.Leu13=) c.3891G>A (p.Leu1297=) n.5414G>A | gnomAD v4 |
5 | g.13841887_13841918del | CA2673274335 | DNAH5 | c.5272-14_5289del c.5227-14_5244del n.5479-14_5496del c.5380-14_5397del c.4285-14_4302del c.469-14_486del c.22-14_39del c.3874-14_3891del n.5397-14_5414del | gnomAD v4 |
5 | g.13841887_13841888insTGAGATTCTTCCAAAAG | CA3203706 | DNAH5 | c.5288_5289insCTTTTGGAAGAATCTCA (p.Ser1764PhefsTer?) c.5243_5244insCTTTTGGAAGAATCTCA (p.Ser1749PhefsTer?) n.5495_5496insCTTTTGGAAGAATCTCA c.5396_5397insCTTTTGGAAGAATCTCA (p.Ser1800PhefsTer?) c.4301_4302insCTTTTGGAAGAATCTCA (p.Ser1435PhefsTer?) c.485_486insCTTTTGGAAGAATCTCA (p.Ser163PhefsTer?) c.38_39insCTTTTGGAAGAATCTCA (p.Ser14PhefsTer?) c.3890_3891insCTTTTGGAAGAATCTCA (p.Ser1298PhefsTer?) n.5413_5414insCTTTTGGAAGAATCTCA | dbSNP ExAC |
5 | g.13841888A= | CA1528458453 | DNAH5 | c.5288T= (p.Leu1763=) c.5243T= (p.Leu1748=) n.5495T= c.5396T= (p.Leu1799=) c.4301T= (p.Leu1434=) c.485T= (p.Leu162=) c.38T= (p.Leu13=) c.3890T= (p.Leu1297=) n.5413T= | |
5 | g.13841888A>C | CA359212452 | DNAH5 | c.5288T>G (p.Leu1763Arg) c.5243T>G (p.Leu1748Arg) n.5495T>G c.5396T>G (p.Leu1799Arg) c.4301T>G (p.Leu1434Arg) c.485T>G (p.Leu162Arg) c.38T>G (p.Leu13Arg) c.3890T>G (p.Leu1297Arg) n.5413T>G | |
5 | g.13841888A>G | CA359212456 | DNAH5 | c.5288T>C (p.Leu1763Pro) c.5243T>C (p.Leu1748Pro) n.5495T>C c.5396T>C (p.Leu1799Pro) c.4301T>C (p.Leu1434Pro) c.485T>C (p.Leu162Pro) c.38T>C (p.Leu13Pro) c.3890T>C (p.Leu1297Pro) n.5413T>C | |
5 | g.13841888A>T | CA359212455 | DNAH5 | c.5288T>A (p.Leu1763Gln) c.5243T>A (p.Leu1748Gln) n.5495T>A c.5396T>A (p.Leu1799Gln) c.4301T>A (p.Leu1434Gln) c.485T>A (p.Leu162Gln) c.38T>A (p.Leu13Gln) c.3890T>A (p.Leu1297Gln) n.5413T>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13841889G>A | CA443256983 | DNAH5 | c.5287C>T (p.Leu1763=) c.5242C>T (p.Leu1748=) n.5494C>T c.5395C>T (p.Leu1799=) c.4300C>T (p.Leu1434=) c.484C>T (p.Leu162=) c.37C>T (p.Leu13=) c.3889C>T (p.Leu1297=) n.5412C>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13841889G>C | CA359212460 | DNAH5 | c.5287C>G (p.Leu1763Val) c.5242C>G (p.Leu1748Val) n.5494C>G c.5395C>G (p.Leu1799Val) c.4300C>G (p.Leu1434Val) c.484C>G (p.Leu162Val) c.37C>G (p.Leu13Val) c.3889C>G (p.Leu1297Val) n.5412C>G | |
5 | g.13841889G>T | CA359212462 | DNAH5 | c.5287C>A (p.Leu1763Met) c.5242C>A (p.Leu1748Met) n.5494C>A c.5395C>A (p.Leu1799Met) c.4300C>A (p.Leu1434Met) c.484C>A (p.Leu162Met) c.37C>A (p.Leu13Met) c.3889C>A (p.Leu1297Met) n.5412C>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13841889dup | CA557871714 | DNAH5 | c.5287dup (p.Leu1763ProfsTer9) c.5242dup (p.Leu1748ProfsTer9) n.5494dup c.5395dup (p.Leu1799ProfsTer9) c.4300dup (p.Leu1434ProfsTer9) c.484dup (p.Leu162ProfsTer9) c.37dup (p.Leu13ProfsTer9) c.3889dup (p.Leu1297ProfsTer9) n.5412dup | dbSNP gnomAD v2 |
5 | g.13841890A= | CA1528458455 | DNAH5 | c.5286T= (p.Ile1762=) c.5241T= (p.Ile1747=) n.5493T= c.5394T= (p.Ile1798=) c.4299T= (p.Ile1433=) c.483T= (p.Ile161=) c.36T= (p.Ile12=) c.3888T= (p.Ile1296=) n.5411T= | |
5 | g.13841890A>C | CA359212465 | DNAH5 | c.5286T>G (p.Ile1762Met) c.5241T>G (p.Ile1747Met) n.5493T>G c.5394T>G (p.Ile1798Met) c.4299T>G (p.Ile1433Met) c.483T>G (p.Ile161Met) c.36T>G (p.Ile12Met) c.3888T>G (p.Ile1296Met) n.5411T>G | |
5 | g.13841890A>G | CA443256985 | DNAH5 | c.5286T>C (p.Ile1762=) c.5241T>C (p.Ile1747=) n.5493T>C c.5394T>C (p.Ile1798=) c.4299T>C (p.Ile1433=) c.483T>C (p.Ile161=) c.36T>C (p.Ile12=) c.3888T>C (p.Ile1296=) n.5411T>C | |
5 | g.13841890A>T | CA443256986 | DNAH5 | c.5286T>A (p.Ile1762=) c.5241T>A (p.Ile1747=) n.5493T>A c.5394T>A (p.Ile1798=) c.4299T>A (p.Ile1433=) c.483T>A (p.Ile161=) c.36T>A (p.Ile12=) c.3888T>A (p.Ile1296=) n.5411T>A | |
5 | g.13841891A= | CA1528458457 | DNAH5 | c.5285T= (p.Ile1762=) c.5240T= (p.Ile1747=) n.5492T= c.5393T= (p.Ile1798=) c.4298T= (p.Ile1433=) c.482T= (p.Ile161=) c.35T= (p.Ile12=) c.3887T= (p.Ile1296=) n.5410T= | |
5 | g.13841891A>C | CA359212468 | DNAH5 | c.5285T>G (p.Ile1762Ser) c.5240T>G (p.Ile1747Ser) n.5492T>G c.5393T>G (p.Ile1798Ser) c.4298T>G (p.Ile1433Ser) c.482T>G (p.Ile161Ser) c.35T>G (p.Ile12Ser) c.3887T>G (p.Ile1296Ser) n.5410T>G | |
5 | g.13841891A>G | CA359212471 | DNAH5 | c.5285T>C (p.Ile1762Thr) c.5240T>C (p.Ile1747Thr) n.5492T>C c.5393T>C (p.Ile1798Thr) c.4298T>C (p.Ile1433Thr) c.482T>C (p.Ile161Thr) c.35T>C (p.Ile12Thr) c.3887T>C (p.Ile1296Thr) n.5410T>C | |
5 | g.13841891A>T | CA359212473 | DNAH5 | c.5285T>A (p.Ile1762Asn) c.5240T>A (p.Ile1747Asn) n.5492T>A c.5393T>A (p.Ile1798Asn) c.4298T>A (p.Ile1433Asn) c.482T>A (p.Ile161Asn) c.35T>A (p.Ile12Asn) c.3887T>A (p.Ile1296Asn) n.5410T>A | gnomAD v4 |
5 | g.13841891_13841892insCTAAGAAAAATTTCACTCCAGAGCTTGTGTTCCTTCTATTATACTGCA | CA557871715 | DNAH5 | c.5285_5286insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT (p.Ile1762delinsMetGlnTyrAsnArgArgAsnThrSerSerGlyValLysPhePheLeuVal) c.5240_5241insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT (p.Ile1747delinsMetGlnTyrAsnArgArgAsnThrSerSerGlyValLysPhePheLeuVal) n.5492_5493insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT c.5393_5394insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT (p.Ile1798delinsMetGlnTyrAsnArgArgAsnThrSerSerGlyValLysPhePheLeuVal) c.4298_4299insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT (p.Ile1433delinsMetGlnTyrAsnArgArgAsnThrSerSerGlyValLysPhePheLeuVal) c.482_483insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT (p.Ile161delinsMetGlnTyrAsnArgArgAsnThrSerSerGlyValLysPhePheLeuVal) c.35_36insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT (p.Ile12delinsMetGlnTyrAsnArgArgAsnThrSerSerGlyValLysPhePheLeuVal) c.3887_3888insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT (p.Ile1296delinsMetGlnTyrAsnArgArgAsnThrSerSerGlyValLysPhePheLeuVal) n.5410_5411insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT | dbSNP gnomAD v2 |
5 | g.13841892T>A | CA359212479 | DNAH5 | c.5284A>T (p.Ile1762Phe) c.5239A>T (p.Ile1747Phe) n.5491A>T c.5392A>T (p.Ile1798Phe) c.4297A>T (p.Ile1433Phe) c.481A>T (p.Ile161Phe) c.34A>T (p.Ile12Phe) c.3886A>T (p.Ile1296Phe) n.5409A>T | |
5 | g.13841892T>C | CA359212481 | DNAH5 | c.5284A>G (p.Ile1762Val) c.5239A>G (p.Ile1747Val) n.5491A>G c.5392A>G (p.Ile1798Val) c.4297A>G (p.Ile1433Val) c.481A>G (p.Ile161Val) c.34A>G (p.Ile12Val) c.3886A>G (p.Ile1296Val) n.5409A>G | |
5 | g.13841892T>G | CA359212484 | DNAH5 | c.5284A>C (p.Ile1762Leu) c.5239A>C (p.Ile1747Leu) n.5491A>C c.5392A>C (p.Ile1798Leu) c.4297A>C (p.Ile1433Leu) c.481A>C (p.Ile161Leu) c.34A>C (p.Ile12Leu) c.3886A>C (p.Ile1296Leu) n.5409A>C | |
5 | g.13841893_13841894insAAGCCAAACTT | CA3203707 | DNAH5 | c.5284_5285insGTTTGGCTTAA (p.Ile1762SerfsTer4) c.5239_5240insGTTTGGCTTAA (p.Ile1747SerfsTer4) n.5491_5492insGTTTGGCTTAA c.5392_5393insGTTTGGCTTAA (p.Ile1798SerfsTer4) c.4297_4298insGTTTGGCTTAA (p.Ile1433SerfsTer4) c.481_482insGTTTGGCTTAA (p.Ile161SerfsTer4) c.34_35insGTTTGGCTTAA (p.Ile12SerfsTer4) c.3886_3887insGTTTGGCTTAA (p.Ile1296SerfsTer4) n.5409_5410insGTTTGGCTTAA | dbSNP ExAC |
5 | g.13841892_13841898del | CA2673274337 | DNAH5 | c.5278_5284del (p.Asp1760PhefsTer?) c.5233_5239del (p.Asp1745PhefsTer?) n.5485_5491del c.5386_5392del (p.Asp1796PhefsTer?) c.4291_4297del (p.Asp1431PhefsTer?) c.475_481del (p.Asp159PhefsTer?) c.28_34del (p.Asp10PhefsTer?) c.3880_3886del (p.Asp1294PhefsTer?) n.5403_5409del | gnomAD v4 |
5 | g.13841892_13841918del | CA2673274336 | DNAH5 | c.5272-14_5284del c.5227-14_5239del n.5479-14_5491del c.5380-14_5392del c.4285-14_4297del c.469-14_481del c.22-14_34del c.3874-14_3886del n.5397-14_5409del | gnomAD v4 |
5 | g.13841893T>A | CA443256998 | DNAH5 | c.5283A>T (p.Arg1761=) c.5238A>T (p.Arg1746=) n.5490A>T c.5391A>T (p.Arg1797=) c.4296A>T (p.Arg1432=) c.480A>T (p.Arg160=) c.33A>T (p.Arg11=) c.3885A>T (p.Arg1295=) n.5408A>T | gnomAD v3 gnomAD v4 |
5 | g.13841893T>C | CA443256996 | DNAH5 | c.5283A>G (p.Arg1761=) c.5238A>G (p.Arg1746=) n.5490A>G c.5391A>G (p.Arg1797=) c.4296A>G (p.Arg1432=) c.480A>G (p.Arg160=) c.33A>G (p.Arg11=) c.3885A>G (p.Arg1295=) n.5408A>G | |
5 | g.13841893T>G | CA3203708 | DNAH5 | c.5283A>C (p.Arg1761=) c.5238A>C (p.Arg1746=) n.5490A>C c.5391A>C (p.Arg1797=) c.4296A>C (p.Arg1432=) c.480A>C (p.Arg160=) c.33A>C (p.Arg11=) c.3885A>C (p.Arg1295=) n.5408A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13841893T= | CA1528458460 | DNAH5 | c.5283A= (p.Arg1761=) c.5238A= (p.Arg1746=) n.5490A= c.5391A= (p.Arg1797=) c.4296A= (p.Arg1432=) c.480A= (p.Arg160=) c.33A= (p.Arg11=) c.3885A= (p.Arg1295=) n.5408A= | |
5 | g.13841894C>A | CA359212491 | DNAH5 | c.5282G>T (p.Arg1761Leu) c.5237G>T (p.Arg1746Leu) n.5489G>T c.5390G>T (p.Arg1797Leu) c.4295G>T (p.Arg1432Leu) c.479G>T (p.Arg160Leu) c.32G>T (p.Arg11Leu) c.3884G>T (p.Arg1295Leu) n.5407G>T | gnomAD v3 gnomAD v4 |
5 | g.13841894C= | CA1528458461 | DNAH5 | c.5282G= (p.Arg1761=) c.5237G= (p.Arg1746=) n.5489G= c.5390G= (p.Arg1797=) c.4295G= (p.Arg1432=) c.479G= (p.Arg160=) c.32G= (p.Arg11=) c.3884G= (p.Arg1295=) n.5407G= | |
5 | g.13841894C>G | CA359212494 | DNAH5 | c.5282G>C (p.Arg1761Pro) c.5237G>C (p.Arg1746Pro) n.5489G>C c.5390G>C (p.Arg1797Pro) c.4295G>C (p.Arg1432Pro) c.479G>C (p.Arg160Pro) c.32G>C (p.Arg11Pro) c.3884G>C (p.Arg1295Pro) n.5407G>C | |
5 | g.13841894C>T | CA3203709 | DNAH5 | c.5282G>A (p.Arg1761Gln) c.5237G>A (p.Arg1746Gln) n.5489G>A c.5390G>A (p.Arg1797Gln) c.4295G>A (p.Arg1432Gln) c.479G>A (p.Arg160Gln) c.32G>A (p.Arg11Gln) c.3884G>A (p.Arg1295Gln) n.5407G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13841895G>A | CA348934 | DNAH5 | c.5281C>T (p.Arg1761Ter) c.5236C>T (p.Arg1746Ter) n.5488C>T c.5389C>T (p.Arg1797Ter) c.4294C>T (p.Arg1432Ter) c.478C>T (p.Arg160Ter) c.31C>T (p.Arg11Ter) c.3883C>T (p.Arg1295Ter) n.5406C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13841895G>C | CA3203710 | DNAH5 | c.5281C>G (p.Arg1761Gly) c.5236C>G (p.Arg1746Gly) n.5488C>G c.5389C>G (p.Arg1797Gly) c.4294C>G (p.Arg1432Gly) c.478C>G (p.Arg160Gly) c.31C>G (p.Arg11Gly) c.3883C>G (p.Arg1295Gly) n.5406C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13841895G= | CA1528458465 | DNAH5 | c.5281C= (p.Arg1761=) c.5236C= (p.Arg1746=) n.5488C= c.5389C= (p.Arg1797=) c.4294C= (p.Arg1432=) c.478C= (p.Arg160=) c.31C= (p.Arg11=) c.3883C= (p.Arg1295=) n.5406C= | |
5 | g.13841895G>T | CA443257007 | DNAH5 | c.5281C>A (p.Arg1761=) c.5236C>A (p.Arg1746=) n.5488C>A c.5389C>A (p.Arg1797=) c.4294C>A (p.Arg1432=) c.478C>A (p.Arg160=) c.31C>A (p.Arg11=) c.3883C>A (p.Arg1295=) n.5406C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13841896A= | CA1528458469 | DNAH5 | c.5280T= (p.Asp1760=) c.5235T= (p.Asp1745=) n.5487T= c.5388T= (p.Asp1796=) c.4293T= (p.Asp1431=) c.477T= (p.Asp159=) c.30T= (p.Asp10=) c.3882T= (p.Asp1294=) n.5405T= | |
5 | g.13841896A>C | CA359212497 | DNAH5 | c.5280T>G (p.Asp1760Glu) c.5235T>G (p.Asp1745Glu) n.5487T>G c.5388T>G (p.Asp1796Glu) c.4293T>G (p.Asp1431Glu) c.477T>G (p.Asp159Glu) c.30T>G (p.Asp10Glu) c.3882T>G (p.Asp1294Glu) n.5405T>G | |
5 | g.13841896A>G | CA443257015 | DNAH5 | c.5280T>C (p.Asp1760=) c.5235T>C (p.Asp1745=) n.5487T>C c.5388T>C (p.Asp1796=) c.4293T>C (p.Asp1431=) c.477T>C (p.Asp159=) c.30T>C (p.Asp10=) c.3882T>C (p.Asp1294=) n.5405T>C | dbSNP |
5 | g.13841896A>T | CA359212500 | DNAH5 | c.5280T>A (p.Asp1760Glu) c.5235T>A (p.Asp1745Glu) n.5487T>A c.5388T>A (p.Asp1796Glu) c.4293T>A (p.Asp1431Glu) c.477T>A (p.Asp159Glu) c.30T>A (p.Asp10Glu) c.3882T>A (p.Asp1294Glu) n.5405T>A | |
5 | g.13841897T>A | CA3203711 | DNAH5 | c.5279A>T (p.Asp1760Val) c.5234A>T (p.Asp1745Val) n.5486A>T c.5387A>T (p.Asp1796Val) c.4292A>T (p.Asp1431Val) c.476A>T (p.Asp159Val) c.29A>T (p.Asp10Val) c.3881A>T (p.Asp1294Val) n.5404A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13841897T>C | CA359212505 | DNAH5 | c.5279A>G (p.Asp1760Gly) c.5234A>G (p.Asp1745Gly) n.5486A>G c.5387A>G (p.Asp1796Gly) c.4292A>G (p.Asp1431Gly) c.476A>G (p.Asp159Gly) c.29A>G (p.Asp10Gly) c.3881A>G (p.Asp1294Gly) n.5404A>G | gnomAD v4 |
5 | g.13841897T>G | CA359212508 | DNAH5 | c.5279A>C (p.Asp1760Ala) c.5234A>C (p.Asp1745Ala) n.5486A>C c.5387A>C (p.Asp1796Ala) c.4292A>C (p.Asp1431Ala) c.476A>C (p.Asp159Ala) c.29A>C (p.Asp10Ala) c.3881A>C (p.Asp1294Ala) n.5404A>C | |
5 | g.13841897T= | CA1528458470 | DNAH5 | c.5279A= (p.Asp1760=) c.5234A= (p.Asp1745=) n.5486A= c.5387A= (p.Asp1796=) c.4292A= (p.Asp1431=) c.476A= (p.Asp159=) c.29A= (p.Asp10=) c.3881A= (p.Asp1294=) n.5404A= | |
5 | g.13841898C>A | CA359212516 | DNAH5 | c.5278G>T (p.Asp1760Tyr) c.5233G>T (p.Asp1745Tyr) n.5485G>T c.5386G>T (p.Asp1796Tyr) c.4291G>T (p.Asp1431Tyr) c.475G>T (p.Asp159Tyr) c.28G>T (p.Asp10Tyr) c.3880G>T (p.Asp1294Tyr) n.5403G>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13841898C= | CA1528458472 | DNAH5 | c.5278G= (p.Asp1760=) c.5233G= (p.Asp1745=) n.5485G= c.5386G= (p.Asp1796=) c.4291G= (p.Asp1431=) c.475G= (p.Asp159=) c.28G= (p.Asp10=) c.3880G= (p.Asp1294=) n.5403G= | |
5 | g.13841898C>G | CA359212518 | DNAH5 | c.5278G>C (p.Asp1760His) c.5233G>C (p.Asp1745His) n.5485G>C c.5386G>C (p.Asp1796His) c.4291G>C (p.Asp1431His) c.475G>C (p.Asp159His) c.28G>C (p.Asp10His) c.3880G>C (p.Asp1294His) n.5403G>C | |
5 | g.13841898C>T | CA359212520 | DNAH5 | c.5278G>A (p.Asp1760Asn) c.5233G>A (p.Asp1745Asn) n.5485G>A c.5386G>A (p.Asp1796Asn) c.4291G>A (p.Asp1431Asn) c.475G>A (p.Asp159Asn) c.28G>A (p.Asp10Asn) c.3880G>A (p.Asp1294Asn) n.5403G>A | |
5 | g.13841899A>C | CA359212526 | DNAH5 | c.5277T>G (p.Tyr1759Ter) c.5232T>G (p.Tyr1744Ter) n.5484T>G c.5385T>G (p.Tyr1795Ter) c.4290T>G (p.Tyr1430Ter) c.474T>G (p.Tyr158Ter) c.27T>G (p.Tyr9Ter) c.3879T>G (p.Tyr1293Ter) n.5402T>G | |
5 | g.13841899A>G | CA443257027 | DNAH5 | c.5277T>C (p.Tyr1759=) c.5232T>C (p.Tyr1744=) n.5484T>C c.5385T>C (p.Tyr1795=) c.4290T>C (p.Tyr1430=) c.474T>C (p.Tyr158=) c.27T>C (p.Tyr9=) c.3879T>C (p.Tyr1293=) n.5402T>C | |
5 | g.13841899A>T | CA359212528 | DNAH5 | c.5277T>A (p.Tyr1759Ter) c.5232T>A (p.Tyr1744Ter) n.5484T>A c.5385T>A (p.Tyr1795Ter) c.4290T>A (p.Tyr1430Ter) c.474T>A (p.Tyr158Ter) c.27T>A (p.Tyr9Ter) c.3879T>A (p.Tyr1293Ter) n.5402T>A | gnomAD v4 |
5 | g.13841900T>A | CA359212535 | DNAH5 | c.5276A>T (p.Tyr1759Phe) c.5231A>T (p.Tyr1744Phe) n.5483A>T c.5384A>T (p.Tyr1795Phe) c.4289A>T (p.Tyr1430Phe) c.473A>T (p.Tyr158Phe) c.26A>T (p.Tyr9Phe) c.3878A>T (p.Tyr1293Phe) n.5401A>T | gnomAD v3 gnomAD v4 |
5 | g.13841900T>C | CA3203712 | DNAH5 | c.5276A>G (p.Tyr1759Cys) c.5231A>G (p.Tyr1744Cys) n.5483A>G c.5384A>G (p.Tyr1795Cys) c.4289A>G (p.Tyr1430Cys) c.473A>G (p.Tyr158Cys) c.26A>G (p.Tyr9Cys) c.3878A>G (p.Tyr1293Cys) n.5401A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13841900T>G | CA359212531 | DNAH5 | c.5276A>C (p.Tyr1759Ser) c.5231A>C (p.Tyr1744Ser) n.5483A>C c.5384A>C (p.Tyr1795Ser) c.4289A>C (p.Tyr1430Ser) c.473A>C (p.Tyr158Ser) c.26A>C (p.Tyr9Ser) c.3878A>C (p.Tyr1293Ser) n.5401A>C | |
5 | g.13841900T= | CA1528458473 | DNAH5 | c.5276A= (p.Tyr1759=) c.5231A= (p.Tyr1744=) n.5483A= c.5384A= (p.Tyr1795=) c.4289A= (p.Tyr1430=) c.473A= (p.Tyr158=) c.26A= (p.Tyr9=) c.3878A= (p.Tyr1293=) n.5401A= | |
5 | g.13841901A= | CA1528458474 | DNAH5 | c.5275T= (p.Tyr1759=) c.5230T= (p.Tyr1744=) n.5482T= c.5383T= (p.Tyr1795=) c.4288T= (p.Tyr1430=) c.472T= (p.Tyr158=) c.25T= (p.Tyr9=) c.3877T= (p.Tyr1293=) n.5400T= | |
5 | g.13841901A>C | CA359212538 | DNAH5 | c.5275T>G (p.Tyr1759Asp) c.5230T>G (p.Tyr1744Asp) n.5482T>G c.5383T>G (p.Tyr1795Asp) c.4288T>G (p.Tyr1430Asp) c.472T>G (p.Tyr158Asp) c.25T>G (p.Tyr9Asp) c.3877T>G (p.Tyr1293Asp) n.5400T>G | |
5 | g.13841901A>G | CA359212539 | DNAH5 | c.5275T>C (p.Tyr1759His) c.5230T>C (p.Tyr1744His) n.5482T>C c.5383T>C (p.Tyr1795His) c.4288T>C (p.Tyr1430His) c.472T>C (p.Tyr158His) c.25T>C (p.Tyr9His) c.3877T>C (p.Tyr1293His) n.5400T>C | gnomAD v4 |
5 | g.13841901A>T | CA3203713 | DNAH5 | c.5275T>A (p.Tyr1759Asn) c.5230T>A (p.Tyr1744Asn) n.5482T>A c.5383T>A (p.Tyr1795Asn) c.4288T>A (p.Tyr1430Asn) c.472T>A (p.Tyr158Asn) c.25T>A (p.Tyr9Asn) c.3877T>A (p.Tyr1293Asn) n.5400T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13841902del | CA1073394686 | DNAH5 | c.5274del (p.Tyr1759MetfsTer?) c.5229del (p.Tyr1744MetfsTer?) n.5481del c.5382del (p.Tyr1795MetfsTer?) c.4287del (p.Tyr1430MetfsTer?) c.471del (p.Tyr158MetfsTer?) c.24del (p.Tyr9MetfsTer?) c.3876del (p.Tyr1293MetfsTer?) n.5399del | gnomAD v3 gnomAD v4 |
5 | g.13841902G>A | CA443257035 | DNAH5 | c.5274C>T (p.Ile1758=) c.5229C>T (p.Ile1743=) n.5481C>T c.5382C>T (p.Ile1794=) c.4287C>T (p.Ile1429=) c.471C>T (p.Ile157=) c.24C>T (p.Ile8=) c.3876C>T (p.Ile1292=) n.5399C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.13841902G>C | CA359212553 | DNAH5 | c.5274C>G (p.Ile1758Met) c.5229C>G (p.Ile1743Met) n.5481C>G c.5382C>G (p.Ile1794Met) c.4287C>G (p.Ile1429Met) c.471C>G (p.Ile157Met) c.24C>G (p.Ile8Met) c.3876C>G (p.Ile1292Met) n.5399C>G | gnomAD v4 |
5 | g.13841902G>T | CA443257039 | DNAH5 | c.5274C>A (p.Ile1758=) c.5229C>A (p.Ile1743=) n.5481C>A c.5382C>A (p.Ile1794=) c.4287C>A (p.Ile1429=) c.471C>A (p.Ile157=) c.24C>A (p.Ile8=) c.3876C>A (p.Ile1292=) n.5399C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.13841902_13841905del | CA2765349681 | DNAH5 | c.5272-1_5274del c.5227-1_5229del n.5479-1_5481del c.5380-1_5382del c.4285-1_4287del c.469-1_471del c.22-1_24del c.3874-1_3876del n.5397-1_5399del | |
5 | g.13841903A>C | CA359212555 | DNAH5 | c.5273T>G (p.Ile1758Ser) c.5228T>G (p.Ile1743Ser) n.5480T>G c.5381T>G (p.Ile1794Ser) c.4286T>G (p.Ile1429Ser) c.470T>G (p.Ile157Ser) c.23T>G (p.Ile8Ser) c.3875T>G (p.Ile1292Ser) n.5398T>G | |
5 | g.13841903A>G | CA359212557 | DNAH5 | c.5273T>C (p.Ile1758Thr) c.5228T>C (p.Ile1743Thr) n.5480T>C c.5381T>C (p.Ile1794Thr) c.4286T>C (p.Ile1429Thr) c.470T>C (p.Ile157Thr) c.23T>C (p.Ile8Thr) c.3875T>C (p.Ile1292Thr) n.5398T>C | gnomAD v4 |
5 | g.13841903A>T | CA359212560 | DNAH5 | c.5273T>A (p.Ile1758Asn) c.5228T>A (p.Ile1743Asn) n.5480T>A c.5381T>A (p.Ile1794Asn) c.4286T>A (p.Ile1429Asn) c.470T>A (p.Ile157Asn) c.23T>A (p.Ile8Asn) c.3875T>A (p.Ile1292Asn) n.5398T>A | gnomAD v3 gnomAD v4 |
5 | g.13841904T>A | CA359212563 | DNAH5 | c.5272A>T (p.Ile1758Phe) c.5227A>T (p.Ile1743Phe) n.5479A>T c.5380A>T (p.Ile1794Phe) c.4285A>T (p.Ile1429Phe) c.469A>T (p.Ile157Phe) c.22A>T (p.Ile8Phe) c.3874A>T (p.Ile1292Phe) n.5397A>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13841904T>C | CA359212565 | DNAH5 | c.5272A>G (p.Ile1758Val) c.5227A>G (p.Ile1743Val) n.5479A>G c.5380A>G (p.Ile1794Val) c.4285A>G (p.Ile1429Val) c.469A>G (p.Ile157Val) c.22A>G (p.Ile8Val) c.3874A>G (p.Ile1292Val) n.5397A>G | gnomAD v3 gnomAD v4 |
5 | g.13841904T>G | CA359212566 | DNAH5 | c.5272A>C (p.Ile1758Leu) c.5227A>C (p.Ile1743Leu) n.5479A>C c.5380A>C (p.Ile1794Leu) c.4285A>C (p.Ile1429Leu) c.469A>C (p.Ile157Leu) c.22A>C (p.Ile8Leu) c.3874A>C (p.Ile1292Leu) n.5397A>C | gnomAD v4 |
5 | g.13841904T= | CA1528458475 | DNAH5 | c.5272A= (p.Ile1758=) c.5227A= (p.Ile1743=) n.5479A= c.5380A= (p.Ile1794=) c.4285A= (p.Ile1429=) c.469A= (p.Ile157=) c.22A= (p.Ile8=) c.3874A= (p.Ile1292=) n.5397A= | |
5 | g.13841905_13841906del | CA2765349682 | DNAH5 | c.5272-1_5272del c.5227-1_5227del n.5479-1_5479del c.5380-1_5380del c.4285-1_4285del c.469-1_469del c.22-1_22del c.3874-1_3874del n.5397-1_5397del | |
5 | g.13841904_13841911del | CA1073394687 | DNAH5 | c.5272-7_5272del c.5227-7_5227del n.5479-7_5479del c.5380-7_5380del c.4285-7_4285del c.469-7_469del c.22-7_22del c.3874-7_3874del n.5397-7_5397del | gnomAD v3 gnomAD v4 |
5 | g.13841905C>A | CA359212568 | DNAH5 | c.5272-1G>T (n.5272-1G>T) c.5227-1G>T (n.5227-1G>T) n.5479-1G>T c.5380-1G>T (n.5380-1G>T) c.4285-1G>T (n.4285-1G>T) c.469-1G>T (n.469-1G>T) c.22-1G>T (n.22-1G>T) c.3874-1G>T (n.3874-1G>T) n.5397-1G>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13841905C= | CA1528458477 | DNAH5 | c.5272-1G= (n.5272-1G=) c.5227-1G= (n.5227-1G=) n.5479-1G= c.5380-1G= (n.5380-1G=) c.4285-1G= (n.4285-1G=) c.469-1G= (n.469-1G=) c.22-1G= (n.22-1G=) c.3874-1G= (n.3874-1G=) n.5397-1G= | |
5 | g.13841905C>G | CA359212570 | DNAH5 | c.5272-1G>C (n.5272-1G>C) c.5227-1G>C (n.5227-1G>C) n.5479-1G>C c.5380-1G>C (n.5380-1G>C) c.4285-1G>C (n.4285-1G>C) c.469-1G>C (n.469-1G>C) c.22-1G>C (n.22-1G>C) c.3874-1G>C (n.3874-1G>C) n.5397-1G>C | |
5 | g.13841905C>T | CA359212572 | DNAH5 | c.5272-1G>A (n.5272-1G>A) c.5227-1G>A (n.5227-1G>A) n.5479-1G>A c.5380-1G>A (n.5380-1G>A) c.4285-1G>A (n.4285-1G>A) c.469-1G>A (n.469-1G>A) c.22-1G>A (n.22-1G>A) c.3874-1G>A (n.3874-1G>A) n.5397-1G>A | ClinVar gnomAD v3 gnomAD v4 |
5 | g.13841906T>A | CA359212578 | DNAH5 | c.5272-2A>T (n.5272-2A>T) c.5227-2A>T (n.5227-2A>T) n.5479-2A>T c.5380-2A>T (n.5380-2A>T) c.4285-2A>T (n.4285-2A>T) c.469-2A>T (n.469-2A>T) c.22-2A>T (n.22-2A>T) c.3874-2A>T (n.3874-2A>T) n.5397-2A>T | gnomAD v3 gnomAD v4 |
5 | g.13841906T>C | CA359212580 | DNAH5 | c.5272-2A>G (n.5272-2A>G) c.5227-2A>G (n.5227-2A>G) n.5479-2A>G c.5380-2A>G (n.5380-2A>G) c.4285-2A>G (n.4285-2A>G) c.469-2A>G (n.469-2A>G) c.22-2A>G (n.22-2A>G) c.3874-2A>G (n.3874-2A>G) n.5397-2A>G | gnomAD v4 |
5 | g.13841906T>G | CA359212575 | DNAH5 | c.5272-2A>C (n.5272-2A>C) c.5227-2A>C (n.5227-2A>C) n.5479-2A>C c.5380-2A>C (n.5380-2A>C) c.4285-2A>C (n.4285-2A>C) c.469-2A>C (n.469-2A>C) c.22-2A>C (n.22-2A>C) c.3874-2A>C (n.3874-2A>C) n.5397-2A>C | |
5 | g.13841907_13841908del | CA2673274338 | DNAH5 | c.5272-3_5272-2del (n.5272-3_5272-2del) c.5227-3_5227-2del (n.5227-3_5227-2del) n.5479-3_5479-2del c.5380-3_5380-2del (n.5380-3_5380-2del) c.4285-3_4285-2del (n.4285-3_4285-2del) c.469-3_469-2del (n.469-3_469-2del) c.22-3_22-2del (n.22-3_22-2del) c.3874-3_3874-2del (n.3874-3_3874-2del) n.5397-3_5397-2del | gnomAD v4 |
5 | g.13841907A= | CA1528458478 | DNAH5 | c.5272-3T= (n.5272-3T=) c.5227-3T= (n.5227-3T=) n.5479-3T= c.5380-3T= (n.5380-3T=) c.4285-3T= (n.4285-3T=) c.469-3T= (n.469-3T=) c.22-3T= (n.22-3T=) c.3874-3T= (n.3874-3T=) n.5397-3T= | |
5 | g.13841907A>G | CA557871716 | DNAH5 | c.5272-3T>C (n.5272-3T>C) c.5227-3T>C (n.5227-3T>C) n.5479-3T>C c.5380-3T>C (n.5380-3T>C) c.4285-3T>C (n.4285-3T>C) c.469-3T>C (n.469-3T>C) c.22-3T>C (n.22-3T>C) c.3874-3T>C (n.3874-3T>C) n.5397-3T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13841907A>T | CA2673274339 | DNAH5 | c.5272-3T>A (n.5272-3T>A) c.5227-3T>A (n.5227-3T>A) n.5479-3T>A c.5380-3T>A (n.5380-3T>A) c.4285-3T>A (n.4285-3T>A) c.469-3T>A (n.469-3T>A) c.22-3T>A (n.22-3T>A) c.3874-3T>A (n.3874-3T>A) n.5397-3T>A | dbSNP gnomAD v4 |
5 | g.13841908T>A | CA3203714 | DNAH5 | c.5272-4A>T (n.5272-4A>T) c.5227-4A>T (n.5227-4A>T) n.5479-4A>T c.5380-4A>T (n.5380-4A>T) c.4285-4A>T (n.4285-4A>T) c.469-4A>T (n.469-4A>T) c.22-4A>T (n.22-4A>T) c.3874-4A>T (n.3874-4A>T) n.5397-4A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13841908T>C | CA2573138487 | DNAH5 | c.5272-4A>G (n.5272-4A>G) c.5227-4A>G (n.5227-4A>G) n.5479-4A>G c.5380-4A>G (n.5380-4A>G) c.4285-4A>G (n.4285-4A>G) c.469-4A>G (n.469-4A>G) c.22-4A>G (n.22-4A>G) c.3874-4A>G (n.3874-4A>G) n.5397-4A>G | ClinVar dbSNP gnomAD v4 |
5 | g.13841908T>G | CA1073394694 | DNAH5 | c.5272-4A>C (n.5272-4A>C) c.5227-4A>C (n.5227-4A>C) n.5479-4A>C c.5380-4A>C (n.5380-4A>C) c.4285-4A>C (n.4285-4A>C) c.469-4A>C (n.469-4A>C) c.22-4A>C (n.22-4A>C) c.3874-4A>C (n.3874-4A>C) n.5397-4A>C | gnomAD v3 gnomAD v4 |
5 | g.13841908T= | CA1528458479 | DNAH5 | c.5272-4A= (n.5272-4A=) c.5227-4A= (n.5227-4A=) n.5479-4A= c.5380-4A= (n.5380-4A=) c.4285-4A= (n.4285-4A=) c.469-4A= (n.469-4A=) c.22-4A= (n.22-4A=) c.3874-4A= (n.3874-4A=) n.5397-4A= | |
5 | g.13841908_13841909delinsTG | CA1528458481 | DNAH5 | c.5272-5_5272-4delinsCA (n.5272-5_5272-4delinsCA) c.5227-5_5227-4delinsCA (n.5227-5_5227-4delinsCA) n.5479-5_5479-4delinsCA c.5380-5_5380-4delinsCA (n.5380-5_5380-4delinsCA) c.4285-5_4285-4delinsCA (n.4285-5_4285-4delinsCA) c.469-5_469-4delinsCA (n.469-5_469-4delinsCA) c.22-5_22-4delinsCA (n.22-5_22-4delinsCA) c.3874-5_3874-4delinsCA (n.3874-5_3874-4delinsCA) n.5397-5_5397-4delinsCA | |
5 | g.13841908_13841911del | CA2765349684 | DNAH5 | c.5272-7_5272-4del (n.5272-7_5272-4del) c.5227-7_5227-4del (n.5227-7_5227-4del) n.5479-7_5479-4del c.5380-7_5380-4del (n.5380-7_5380-4del) c.4285-7_4285-4del (n.4285-7_4285-4del) c.469-7_469-4del (n.469-7_469-4del) c.22-7_22-4del (n.22-7_22-4del) c.3874-7_3874-4del (n.3874-7_3874-4del) n.5397-7_5397-4del | |
5 | g.13841909_13841911del | CA2765349683 | DNAH5 | c.5272-6_5272-4del (n.5272-6_5272-4del) c.5227-6_5227-4del (n.5227-6_5227-4del) n.5479-6_5479-4del c.5380-6_5380-4del (n.5380-6_5380-4del) c.4285-6_4285-4del (n.4285-6_4285-4del) c.469-6_469-4del (n.469-6_469-4del) c.22-6_22-4del (n.22-6_22-4del) c.3874-6_3874-4del (n.3874-6_3874-4del) n.5397-6_5397-4del | |
5 | g.13841908_13841918del | CA2765349685 | DNAH5 | c.5272-14_5272-4del (n.5272-14_5272-4del) c.5227-14_5227-4del (n.5227-14_5227-4del) n.5479-14_5479-4del c.5380-14_5380-4del (n.5380-14_5380-4del) c.4285-14_4285-4del (n.4285-14_4285-4del) c.469-14_469-4del (n.469-14_469-4del) c.22-14_22-4del (n.22-14_22-4del) c.3874-14_3874-4del (n.3874-14_3874-4del) n.5397-14_5397-4del | |
5 | g.13841909del | CA1528458485 | DNAH5 | c.5272-5del (n.5272-5del) c.5227-5del (n.5227-5del) n.5479-5del c.5380-5del (n.5380-5del) c.4285-5del (n.4285-5del) c.469-5del (n.469-5del) c.22-5del (n.22-5del) c.3874-5del (n.3874-5del) n.5397-5del | dbSNP |
5 | g.13841909G>A | CA557871717 | DNAH5 | c.5272-5C>T (n.5272-5C>T) c.5227-5C>T (n.5227-5C>T) n.5479-5C>T c.5380-5C>T (n.5380-5C>T) c.4285-5C>T (n.4285-5C>T) c.469-5C>T (n.469-5C>T) c.22-5C>T (n.22-5C>T) c.3874-5C>T (n.3874-5C>T) n.5397-5C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13841909G>C | CA1073394696 | DNAH5 | c.5272-5C>G (n.5272-5C>G) c.5227-5C>G (n.5227-5C>G) n.5479-5C>G c.5380-5C>G (n.5380-5C>G) c.4285-5C>G (n.4285-5C>G) c.469-5C>G (n.469-5C>G) c.22-5C>G (n.22-5C>G) c.3874-5C>G (n.3874-5C>G) n.5397-5C>G | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13841909G= | CA1528458483 | DNAH5 | c.5272-5C= (n.5272-5C=) c.5227-5C= (n.5227-5C=) n.5479-5C= c.5380-5C= (n.5380-5C=) c.4285-5C= (n.4285-5C=) c.469-5C= (n.469-5C=) c.22-5C= (n.22-5C=) c.3874-5C= (n.3874-5C=) n.5397-5C= | |
5 | g.13841909G>T | CA3203715 | DNAH5 | c.5272-5C>A (n.5272-5C>A) c.5227-5C>A (n.5227-5C>A) n.5479-5C>A c.5380-5C>A (n.5380-5C>A) c.4285-5C>A (n.4285-5C>A) c.469-5C>A (n.469-5C>A) c.22-5C>A (n.22-5C>A) c.3874-5C>A (n.3874-5C>A) n.5397-5C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13841910T>A | CA1073394708 | DNAH5 | c.5272-6A>T (n.5272-6A>T) c.5227-6A>T (n.5227-6A>T) n.5479-6A>T c.5380-6A>T (n.5380-6A>T) c.4285-6A>T (n.4285-6A>T) c.469-6A>T (n.469-6A>T) c.22-6A>T (n.22-6A>T) c.3874-6A>T (n.3874-6A>T) n.5397-6A>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13841910T>C | CA1073394705 | DNAH5 | c.5272-6A>G (n.5272-6A>G) c.5227-6A>G (n.5227-6A>G) n.5479-6A>G c.5380-6A>G (n.5380-6A>G) c.4285-6A>G (n.4285-6A>G) c.469-6A>G (n.469-6A>G) c.22-6A>G (n.22-6A>G) c.3874-6A>G (n.3874-6A>G) n.5397-6A>G | gnomAD v3 gnomAD v4 |
5 | g.13841910T>G | CA1528458490 | DNAH5 | c.5272-6A>C (n.5272-6A>C) c.5227-6A>C (n.5227-6A>C) n.5479-6A>C c.5380-6A>C (n.5380-6A>C) c.4285-6A>C (n.4285-6A>C) c.469-6A>C (n.469-6A>C) c.22-6A>C (n.22-6A>C) c.3874-6A>C (n.3874-6A>C) n.5397-6A>C | dbSNP gnomAD v4 |
5 | g.13841910T= | CA1528458489 | DNAH5 | c.5272-6A= (n.5272-6A=) c.5227-6A= (n.5227-6A=) n.5479-6A= c.5380-6A= (n.5380-6A=) c.4285-6A= (n.4285-6A=) c.469-6A= (n.469-6A=) c.22-6A= (n.22-6A=) c.3874-6A= (n.3874-6A=) n.5397-6A= | |
5 | g.13841910_13841911del | CA2673274340 | DNAH5 | c.5272-7_5272-6del (n.5272-7_5272-6del) c.5227-7_5227-6del (n.5227-7_5227-6del) n.5479-7_5479-6del c.5380-7_5380-6del (n.5380-7_5380-6del) c.4285-7_4285-6del (n.4285-7_4285-6del) c.469-7_469-6del (n.469-7_469-6del) c.22-7_22-6del (n.22-7_22-6del) c.3874-7_3874-6del (n.3874-7_3874-6del) n.5397-7_5397-6del | gnomAD v4 |
5 | g.13841911del | CA1073394703 | DNAH5 | c.5272-6del (n.5272-6del) c.5227-6del (n.5227-6del) n.5479-6del c.5380-6del (n.5380-6del) c.4285-6del (n.4285-6del) c.469-6del (n.469-6del) c.22-6del (n.22-6del) c.3874-6del (n.3874-6del) n.5397-6del | gnomAD v3 gnomAD v4 |
5 | g.13841911T>A | CA557871718 | DNAH5 | c.5272-7A>T (n.5272-7A>T) c.5227-7A>T (n.5227-7A>T) n.5479-7A>T c.5380-7A>T (n.5380-7A>T) c.4285-7A>T (n.4285-7A>T) c.469-7A>T (n.469-7A>T) c.22-7A>T (n.22-7A>T) c.3874-7A>T (n.3874-7A>T) n.5397-7A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13841911T>C | CA3203716 | DNAH5 | c.5272-7A>G (n.5272-7A>G) c.5227-7A>G (n.5227-7A>G) n.5479-7A>G c.5380-7A>G (n.5380-7A>G) c.4285-7A>G (n.4285-7A>G) c.469-7A>G (n.469-7A>G) c.22-7A>G (n.22-7A>G) c.3874-7A>G (n.3874-7A>G) n.5397-7A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13841911T>G | CA1073394712 | DNAH5 | c.5272-7A>C (n.5272-7A>C) c.5227-7A>C (n.5227-7A>C) n.5479-7A>C c.5380-7A>C (n.5380-7A>C) c.4285-7A>C (n.4285-7A>C) c.469-7A>C (n.469-7A>C) c.22-7A>C (n.22-7A>C) c.3874-7A>C (n.3874-7A>C) n.5397-7A>C | gnomAD v3 gnomAD v4 |
5 | g.13841911T= | CA1528458492 | DNAH5 | c.5272-7A= (n.5272-7A=) c.5227-7A= (n.5227-7A=) n.5479-7A= c.5380-7A= (n.5380-7A=) c.4285-7A= (n.4285-7A=) c.469-7A= (n.469-7A=) c.22-7A= (n.22-7A=) c.3874-7A= (n.3874-7A=) n.5397-7A= | |
5 | g.13841911_13841912insGA | CA2673274345 | DNAH5 | c.5272-8_5272-7insTC (n.5272-8_5272-7insTC) c.5227-8_5227-7insTC (n.5227-8_5227-7insTC) n.5479-8_5479-7insTC c.5380-8_5380-7insTC (n.5380-8_5380-7insTC) c.4285-8_4285-7insTC (n.4285-8_4285-7insTC) c.469-8_469-7insTC (n.469-8_469-7insTC) c.22-8_22-7insTC (n.22-8_22-7insTC) c.3874-8_3874-7insTC (n.3874-8_3874-7insTC) n.5397-8_5397-7insTC | gnomAD v4 |
5 | g.13841912A>C | CA2673274344 | DNAH5 | c.5272-8T>G (n.5272-8T>G) c.5227-8T>G (n.5227-8T>G) n.5479-8T>G c.5380-8T>G (n.5380-8T>G) c.4285-8T>G (n.4285-8T>G) c.469-8T>G (n.469-8T>G) c.22-8T>G (n.22-8T>G) c.3874-8T>G (n.3874-8T>G) n.5397-8T>G | gnomAD v4 |
5 | g.13841912A>G | CA2673274343 | DNAH5 | c.5272-8T>C (n.5272-8T>C) c.5227-8T>C (n.5227-8T>C) n.5479-8T>C c.5380-8T>C (n.5380-8T>C) c.4285-8T>C (n.4285-8T>C) c.469-8T>C (n.469-8T>C) c.22-8T>C (n.22-8T>C) c.3874-8T>C (n.3874-8T>C) n.5397-8T>C | gnomAD v4 |
5 | g.13841912A>T | CA2673274342 | DNAH5 | c.5272-8T>A (n.5272-8T>A) c.5227-8T>A (n.5227-8T>A) n.5479-8T>A c.5380-8T>A (n.5380-8T>A) c.4285-8T>A (n.4285-8T>A) c.469-8T>A (n.469-8T>A) c.22-8T>A (n.22-8T>A) c.3874-8T>A (n.3874-8T>A) n.5397-8T>A | gnomAD v4 |
5 | g.13841912_13841913insAAA | CA2673274341 | DNAH5 | c.5272-8_5272-7insTTT (n.5272-8_5272-7insTTT) c.5227-8_5227-7insTTT (n.5227-8_5227-7insTTT) n.5479-8_5479-7insTTT c.5380-8_5380-7insTTT (n.5380-8_5380-7insTTT) c.4285-8_4285-7insTTT (n.4285-8_4285-7insTTT) c.469-8_469-7insTTT (n.469-8_469-7insTTT) c.22-8_22-7insTTT (n.22-8_22-7insTTT) c.3874-8_3874-7insTTT (n.3874-8_3874-7insTTT) n.5397-8_5397-7insTTT | gnomAD v4 |
5 | g.13841912dup | CA10619116 | DNAH5 | c.5272-8dup (n.5272-8dup) c.5227-8dup (n.5227-8dup) n.5479-8dup c.5380-8dup (n.5380-8dup) c.4285-8dup (n.4285-8dup) c.469-8dup (n.469-8dup) c.22-8dup (n.22-8dup) c.3874-8dup (n.3874-8dup) n.5397-8dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.13841912_13841913delinsAG | CA1528458494 | DNAH5 | c.5272-9_5272-8delinsCT (n.5272-9_5272-8delinsCT) c.5227-9_5227-8delinsCT (n.5227-9_5227-8delinsCT) n.5479-9_5479-8delinsCT c.5380-9_5380-8delinsCT (n.5380-9_5380-8delinsCT) c.4285-9_4285-8delinsCT (n.4285-9_4285-8delinsCT) c.469-9_469-8delinsCT (n.469-9_469-8delinsCT) c.22-9_22-8delinsCT (n.22-9_22-8delinsCT) c.3874-9_3874-8delinsCT (n.3874-9_3874-8delinsCT) n.5397-9_5397-8delinsCT | |
5 | g.13841913_13841914del | CA2765349686 | DNAH5 | c.5272-9_5272-8del (n.5272-9_5272-8del) c.5227-9_5227-8del (n.5227-9_5227-8del) n.5479-9_5479-8del c.5380-9_5380-8del (n.5380-9_5380-8del) c.4285-9_4285-8del (n.4285-9_4285-8del) c.469-9_469-8del (n.469-9_469-8del) c.22-9_22-8del (n.22-9_22-8del) c.3874-9_3874-8del (n.3874-9_3874-8del) n.5397-9_5397-8del | |
5 | g.13841913del | CA557871719 | DNAH5 | c.5272-9del (n.5272-9del) c.5227-9del (n.5227-9del) n.5479-9del c.5380-9del (n.5380-9del) c.4285-9del (n.4285-9del) c.469-9del (n.469-9del) c.22-9del (n.22-9del) c.3874-9del (n.3874-9del) n.5397-9del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13841913G>A | CA3203717 | DNAH5 | c.5272-9C>T (n.5272-9C>T) c.5227-9C>T (n.5227-9C>T) n.5479-9C>T c.5380-9C>T (n.5380-9C>T) c.4285-9C>T (n.4285-9C>T) c.469-9C>T (n.469-9C>T) c.22-9C>T (n.22-9C>T) c.3874-9C>T (n.3874-9C>T) n.5397-9C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13841913G>C | CA1073394721 | DNAH5 | c.5272-9C>G (n.5272-9C>G) c.5227-9C>G (n.5227-9C>G) n.5479-9C>G c.5380-9C>G (n.5380-9C>G) c.4285-9C>G (n.4285-9C>G) c.469-9C>G (n.469-9C>G) c.22-9C>G (n.22-9C>G) c.3874-9C>G (n.3874-9C>G) n.5397-9C>G | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13841913G= | CA1528458497 | DNAH5 | c.5272-9C= (n.5272-9C=) c.5227-9C= (n.5227-9C=) n.5479-9C= c.5380-9C= (n.5380-9C=) c.4285-9C= (n.4285-9C=) c.469-9C= (n.469-9C=) c.22-9C= (n.22-9C=) c.3874-9C= (n.3874-9C=) n.5397-9C= | |
5 | g.13841913G>T | CA1073394718 | DNAH5 | c.5272-9C>A (n.5272-9C>A) c.5227-9C>A (n.5227-9C>A) n.5479-9C>A c.5380-9C>A (n.5380-9C>A) c.4285-9C>A (n.4285-9C>A) c.469-9C>A (n.469-9C>A) c.22-9C>A (n.22-9C>A) c.3874-9C>A (n.3874-9C>A) n.5397-9C>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13841913_13841918del | CA2578270627 | DNAH5 | c.5272-14_5272-9del (n.5272-14_5272-9del) c.5227-14_5227-9del (n.5227-14_5227-9del) n.5479-14_5479-9del c.5380-14_5380-9del (n.5380-14_5380-9del) c.4285-14_4285-9del (n.4285-14_4285-9del) c.469-14_469-9del (n.469-14_469-9del) c.22-14_22-9del (n.22-14_22-9del) c.3874-14_3874-9del (n.3874-14_3874-9del) n.5397-14_5397-9del |