| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13753464C>A | CA443535943 | DNAH5 | c.10641G>T (p.Arg3547=) c.10596G>T (p.Arg3532=) c.10749G>T (p.Arg3583=) c.9654G>T (p.Arg3218=) c.5838G>T (p.Arg1946=) c.5391G>T (p.Arg1797=) c.4728G>T (p.Arg1576=) c.9243G>T (p.Arg3081=) | |
| 5 | g.13753464C>G | CA443535944 | DNAH5 | c.10641G>C (p.Arg3547=) c.10596G>C (p.Arg3532=) c.10749G>C (p.Arg3583=) c.9654G>C (p.Arg3218=) c.5838G>C (p.Arg1946=) c.5391G>C (p.Arg1797=) c.4728G>C (p.Arg1576=) c.9243G>C (p.Arg3081=) | |
| 5 | g.13753464C>T | CA443535945 | DNAH5 | c.10641G>A (p.Arg3547=) c.10596G>A (p.Arg3532=) c.10749G>A (p.Arg3583=) c.9654G>A (p.Arg3218=) c.5838G>A (p.Arg1946=) c.5391G>A (p.Arg1797=) c.4728G>A (p.Arg1576=) c.9243G>A (p.Arg3081=) | gnomAD v4 |
| 5 | g.13753465C>A | CA359192050 | DNAH5 | c.10640G>T (p.Arg3547Leu) c.10595G>T (p.Arg3532Leu) c.10748G>T (p.Arg3583Leu) c.9653G>T (p.Arg3218Leu) c.5837G>T (p.Arg1946Leu) c.5390G>T (p.Arg1797Leu) c.4727G>T (p.Arg1576Leu) c.9242G>T (p.Arg3081Leu) | |
| 5 | g.13753465C= | CA1528423523 | DNAH5 | c.10640G= (p.Arg3547=) c.10595G= (p.Arg3532=) c.10748G= (p.Arg3583=) c.9653G= (p.Arg3218=) c.5837G= (p.Arg1946=) c.5390G= (p.Arg1797=) c.4727G= (p.Arg1576=) c.9242G= (p.Arg3081=) | |
| 5 | g.13753465C>G | CA359192052 | DNAH5 | c.10640G>C (p.Arg3547Pro) c.10595G>C (p.Arg3532Pro) c.10748G>C (p.Arg3583Pro) c.9653G>C (p.Arg3218Pro) c.5837G>C (p.Arg1946Pro) c.5390G>C (p.Arg1797Pro) c.4727G>C (p.Arg1576Pro) c.9242G>C (p.Arg3081Pro) | |
| 5 | g.13753465C>T | CA3202164 | DNAH5 | c.10640G>A (p.Arg3547Gln) c.10595G>A (p.Arg3532Gln) c.10748G>A (p.Arg3583Gln) c.9653G>A (p.Arg3218Gln) c.5837G>A (p.Arg1946Gln) c.5390G>A (p.Arg1797Gln) c.4727G>A (p.Arg1576Gln) c.9242G>A (p.Arg3081Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13753466G>A | CA3202165 | DNAH5 | c.10639C>T (p.Arg3547Trp) c.10594C>T (p.Arg3532Trp) c.10747C>T (p.Arg3583Trp) c.9652C>T (p.Arg3218Trp) c.5836C>T (p.Arg1946Trp) c.5389C>T (p.Arg1797Trp) c.4726C>T (p.Arg1576Trp) c.9241C>T (p.Arg3081Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13753466G>C | CA3202166 | DNAH5 | c.10639C>G (p.Arg3547Gly) c.10594C>G (p.Arg3532Gly) c.10747C>G (p.Arg3583Gly) c.9652C>G (p.Arg3218Gly) c.5836C>G (p.Arg1946Gly) c.5389C>G (p.Arg1797Gly) c.4726C>G (p.Arg1576Gly) c.9241C>G (p.Arg3081Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13753466G= | CA1528423524 | DNAH5 | c.10639C= (p.Arg3547=) c.10594C= (p.Arg3532=) c.10747C= (p.Arg3583=) c.9652C= (p.Arg3218=) c.5836C= (p.Arg1946=) c.5389C= (p.Arg1797=) c.4726C= (p.Arg1576=) c.9241C= (p.Arg3081=) | |
| 5 | g.13753466G>T | CA443535946 | DNAH5 | c.10639C>A (p.Arg3547=) c.10594C>A (p.Arg3532=) c.10747C>A (p.Arg3583=) c.9652C>A (p.Arg3218=) c.5836C>A (p.Arg1946=) c.5389C>A (p.Arg1797=) c.4726C>A (p.Arg1576=) c.9241C>A (p.Arg3081=) | |
| 5 | g.13753467C>A | CA359192057 | DNAH5 | c.10638G>T (p.Trp3546Cys) c.10593G>T (p.Trp3531Cys) c.10746G>T (p.Trp3582Cys) c.9651G>T (p.Trp3217Cys) c.5835G>T (p.Trp1945Cys) c.5388G>T (p.Trp1796Cys) c.4725G>T (p.Trp1575Cys) c.9240G>T (p.Trp3080Cys) | |
| 5 | g.13753467C>G | CA359192058 | DNAH5 | c.10638G>C (p.Trp3546Cys) c.10593G>C (p.Trp3531Cys) c.10746G>C (p.Trp3582Cys) c.9651G>C (p.Trp3217Cys) c.5835G>C (p.Trp1945Cys) c.5388G>C (p.Trp1796Cys) c.4725G>C (p.Trp1575Cys) c.9240G>C (p.Trp3080Cys) | |
| 5 | g.13753467C>T | CA359192060 | DNAH5 | c.10638G>A (p.Trp3546Ter) c.10593G>A (p.Trp3531Ter) c.10746G>A (p.Trp3582Ter) c.9651G>A (p.Trp3217Ter) c.5835G>A (p.Trp1945Ter) c.5388G>A (p.Trp1796Ter) c.4725G>A (p.Trp1575Ter) c.9240G>A (p.Trp3080Ter) | |
| 5 | g.13753468C>A | CA359192065 | DNAH5 | c.10637G>T (p.Trp3546Leu) c.10592G>T (p.Trp3531Leu) c.10745G>T (p.Trp3582Leu) c.9650G>T (p.Trp3217Leu) c.5834G>T (p.Trp1945Leu) c.5387G>T (p.Trp1796Leu) c.4724G>T (p.Trp1575Leu) c.9239G>T (p.Trp3080Leu) | |
| 5 | g.13753468C>G | CA359192063 | DNAH5 | c.10637G>C (p.Trp3546Ser) c.10592G>C (p.Trp3531Ser) c.10745G>C (p.Trp3582Ser) c.9650G>C (p.Trp3217Ser) c.5834G>C (p.Trp1945Ser) c.5387G>C (p.Trp1796Ser) c.4724G>C (p.Trp1575Ser) c.9239G>C (p.Trp3080Ser) | |
| 5 | g.13753468C>T | CA359192062 | DNAH5 | c.10637G>A (p.Trp3546Ter) c.10592G>A (p.Trp3531Ter) c.10745G>A (p.Trp3582Ter) c.9650G>A (p.Trp3217Ter) c.5834G>A (p.Trp1945Ter) c.5387G>A (p.Trp1796Ter) c.4724G>A (p.Trp1575Ter) c.9239G>A (p.Trp3080Ter) | |
| 5 | g.13753469del | CA2673270451 | DNAH5 | c.10636del (p.Trp3546GlyfsTer5) c.10591del (p.Trp3531GlyfsTer5) c.10744del (p.Trp3582GlyfsTer5) c.9649del (p.Trp3217GlyfsTer5) c.5833del (p.Trp1945GlyfsTer5) c.5386del (p.Trp1796GlyfsTer5) c.4723del (p.Trp1575GlyfsTer5) c.9238del (p.Trp3080GlyfsTer5) | gnomAD v4 |
| 5 | g.13753469A= | CA1528423525 | DNAH5 | c.10636T= (p.Trp3546=) c.10591T= (p.Trp3531=) c.10744T= (p.Trp3582=) c.9649T= (p.Trp3217=) c.5833T= (p.Trp1945=) c.5386T= (p.Trp1796=) c.4723T= (p.Trp1575=) c.9238T= (p.Trp3080=) | |
| 5 | g.13753469A>C | CA359192067 | DNAH5 | c.10636T>G (p.Trp3546Gly) c.10591T>G (p.Trp3531Gly) c.10744T>G (p.Trp3582Gly) c.9649T>G (p.Trp3217Gly) c.5833T>G (p.Trp1945Gly) c.5386T>G (p.Trp1796Gly) c.4723T>G (p.Trp1575Gly) c.9238T>G (p.Trp3080Gly) | |
| 5 | g.13753469A>G | CA113919097 | DNAH5 | c.10636T>C (p.Trp3546Arg) c.10591T>C (p.Trp3531Arg) c.10744T>C (p.Trp3582Arg) c.9649T>C (p.Trp3217Arg) c.5833T>C (p.Trp1945Arg) c.5386T>C (p.Trp1796Arg) c.4723T>C (p.Trp1575Arg) c.9238T>C (p.Trp3080Arg) | dbSNP |
| 5 | g.13753469A>T | CA359192069 | DNAH5 | c.10636T>A (p.Trp3546Arg) c.10591T>A (p.Trp3531Arg) c.10744T>A (p.Trp3582Arg) c.9649T>A (p.Trp3217Arg) c.5833T>A (p.Trp1945Arg) c.5386T>A (p.Trp1796Arg) c.4723T>A (p.Trp1575Arg) c.9238T>A (p.Trp3080Arg) | |
| 5 | g.13753470G>A | CA443535953 | DNAH5 | c.10635C>T (p.Asp3545=) c.10590C>T (p.Asp3530=) c.10743C>T (p.Asp3581=) c.9648C>T (p.Asp3216=) c.5832C>T (p.Asp1944=) c.5385C>T (p.Asp1795=) c.4722C>T (p.Asp1574=) c.9237C>T (p.Asp3079=) | |
| 5 | g.13753470G>C | CA359192071 | DNAH5 | c.10635C>G (p.Asp3545Glu) c.10590C>G (p.Asp3530Glu) c.10743C>G (p.Asp3581Glu) c.9648C>G (p.Asp3216Glu) c.5832C>G (p.Asp1944Glu) c.5385C>G (p.Asp1795Glu) c.4722C>G (p.Asp1574Glu) c.9237C>G (p.Asp3079Glu) | |
| 5 | g.13753470G>T | CA359192073 | DNAH5 | c.10635C>A (p.Asp3545Glu) c.10590C>A (p.Asp3530Glu) c.10743C>A (p.Asp3581Glu) c.9648C>A (p.Asp3216Glu) c.5832C>A (p.Asp1944Glu) c.5385C>A (p.Asp1795Glu) c.4722C>A (p.Asp1574Glu) c.9237C>A (p.Asp3079Glu) | |
| 5 | g.13753471T>A | CA359192075 | DNAH5 | c.10634A>T (p.Asp3545Val) c.10589A>T (p.Asp3530Val) c.10742A>T (p.Asp3581Val) c.9647A>T (p.Asp3216Val) c.5831A>T (p.Asp1944Val) c.5384A>T (p.Asp1795Val) c.4721A>T (p.Asp1574Val) c.9236A>T (p.Asp3079Val) | ClinVar gnomAD v4 |
| 5 | g.13753471T>C | CA359192076 | DNAH5 | c.10634A>G (p.Asp3545Gly) c.10589A>G (p.Asp3530Gly) c.10742A>G (p.Asp3581Gly) c.9647A>G (p.Asp3216Gly) c.5831A>G (p.Asp1944Gly) c.5384A>G (p.Asp1795Gly) c.4721A>G (p.Asp1574Gly) c.9236A>G (p.Asp3079Gly) | |
| 5 | g.13753471T>G | CA359192078 | DNAH5 | c.10634A>C (p.Asp3545Ala) c.10589A>C (p.Asp3530Ala) c.10742A>C (p.Asp3581Ala) c.9647A>C (p.Asp3216Ala) c.5831A>C (p.Asp1944Ala) c.5384A>C (p.Asp1795Ala) c.4721A>C (p.Asp1574Ala) c.9236A>C (p.Asp3079Ala) | |
| 5 | g.13753472C>A | CA359192080 | DNAH5 | c.10633G>T (p.Asp3545Tyr) c.10588G>T (p.Asp3530Tyr) c.10741G>T (p.Asp3581Tyr) c.9646G>T (p.Asp3216Tyr) c.5830G>T (p.Asp1944Tyr) c.5383G>T (p.Asp1795Tyr) c.4720G>T (p.Asp1574Tyr) c.9235G>T (p.Asp3079Tyr) | dbSNP |
| 5 | g.13753472C= | CA1528423526 | DNAH5 | c.10633G= (p.Asp3545=) c.10588G= (p.Asp3530=) c.10741G= (p.Asp3581=) c.9646G= (p.Asp3216=) c.5830G= (p.Asp1944=) c.5383G= (p.Asp1795=) c.4720G= (p.Asp1574=) c.9235G= (p.Asp3079=) | |
| 5 | g.13753472C>G | CA359192081 | DNAH5 | c.10633G>C (p.Asp3545His) c.10588G>C (p.Asp3530His) c.10741G>C (p.Asp3581His) c.9646G>C (p.Asp3216His) c.5830G>C (p.Asp1944His) c.5383G>C (p.Asp1795His) c.4720G>C (p.Asp1574His) c.9235G>C (p.Asp3079His) | |
| 5 | g.13753472C>T | CA359192083 | DNAH5 | c.10633G>A (p.Asp3545Asn) c.10588G>A (p.Asp3530Asn) c.10741G>A (p.Asp3581Asn) c.9646G>A (p.Asp3216Asn) c.5830G>A (p.Asp1944Asn) c.5383G>A (p.Asp1795Asn) c.4720G>A (p.Asp1574Asn) c.9235G>A (p.Asp3079Asn) | gnomAD v4 |
| 5 | g.13753473del | CA2673270452 | DNAH5 | c.10632del (p.Asn3544LysfsTer7) c.10587del (p.Asn3529LysfsTer7) c.10740del (p.Asn3580LysfsTer7) c.9645del (p.Asn3215LysfsTer7) c.5829del (p.Asn1943LysfsTer7) c.5382del (p.Asn1794LysfsTer7) c.4719del (p.Asn1573LysfsTer7) c.9234del (p.Asn3078LysfsTer7) | gnomAD v4 |
| 5 | g.13753473A>C | CA359192084 | DNAH5 | c.10632T>G (p.Asn3544Lys) c.10587T>G (p.Asn3529Lys) c.10740T>G (p.Asn3580Lys) c.9645T>G (p.Asn3215Lys) c.5829T>G (p.Asn1943Lys) c.5382T>G (p.Asn1794Lys) c.4719T>G (p.Asn1573Lys) c.9234T>G (p.Asn3078Lys) | |
| 5 | g.13753473A>G | CA443535954 | DNAH5 | c.10632T>C (p.Asn3544=) c.10587T>C (p.Asn3529=) c.10740T>C (p.Asn3580=) c.9645T>C (p.Asn3215=) c.5829T>C (p.Asn1943=) c.5382T>C (p.Asn1794=) c.4719T>C (p.Asn1573=) c.9234T>C (p.Asn3078=) | |
| 5 | g.13753473A>T | CA359192085 | DNAH5 | c.10632T>A (p.Asn3544Lys) c.10587T>A (p.Asn3529Lys) c.10740T>A (p.Asn3580Lys) c.9645T>A (p.Asn3215Lys) c.5829T>A (p.Asn1943Lys) c.5382T>A (p.Asn1794Lys) c.4719T>A (p.Asn1573Lys) c.9234T>A (p.Asn3078Lys) | |
| 5 | g.13753474T>A | CA359192089 | DNAH5 | c.10631A>T (p.Asn3544Ile) c.10586A>T (p.Asn3529Ile) c.10739A>T (p.Asn3580Ile) c.9644A>T (p.Asn3215Ile) c.5828A>T (p.Asn1943Ile) c.5381A>T (p.Asn1794Ile) c.4718A>T (p.Asn1573Ile) c.9233A>T (p.Asn3078Ile) | |
| 5 | g.13753474T>C | CA359192090 | DNAH5 | c.10631A>G (p.Asn3544Ser) c.10586A>G (p.Asn3529Ser) c.10739A>G (p.Asn3580Ser) c.9644A>G (p.Asn3215Ser) c.5828A>G (p.Asn1943Ser) c.5381A>G (p.Asn1794Ser) c.4718A>G (p.Asn1573Ser) c.9233A>G (p.Asn3078Ser) | |
| 5 | g.13753474T>G | CA359192087 | DNAH5 | c.10631A>C (p.Asn3544Thr) c.10586A>C (p.Asn3529Thr) c.10739A>C (p.Asn3580Thr) c.9644A>C (p.Asn3215Thr) c.5828A>C (p.Asn1943Thr) c.5381A>C (p.Asn1794Thr) c.4718A>C (p.Asn1573Thr) c.9233A>C (p.Asn3078Thr) | |
| 5 | g.13753475T>A | CA359192094 | DNAH5 | c.10630A>T (p.Asn3544Tyr) c.10585A>T (p.Asn3529Tyr) c.10738A>T (p.Asn3580Tyr) c.9643A>T (p.Asn3215Tyr) c.5827A>T (p.Asn1943Tyr) c.5380A>T (p.Asn1794Tyr) c.4717A>T (p.Asn1573Tyr) c.9232A>T (p.Asn3078Tyr) | |
| 5 | g.13753475T>C | CA359192092 | DNAH5 | c.10630A>G (p.Asn3544Asp) c.10585A>G (p.Asn3529Asp) c.10738A>G (p.Asn3580Asp) c.9643A>G (p.Asn3215Asp) c.5827A>G (p.Asn1943Asp) c.5380A>G (p.Asn1794Asp) c.4717A>G (p.Asn1573Asp) c.9232A>G (p.Asn3078Asp) | |
| 5 | g.13753475T>G | CA359192095 | DNAH5 | c.10630A>C (p.Asn3544His) c.10585A>C (p.Asn3529His) c.10738A>C (p.Asn3580His) c.9643A>C (p.Asn3215His) c.5827A>C (p.Asn1943His) c.5380A>C (p.Asn1794His) c.4717A>C (p.Asn1573His) c.9232A>C (p.Asn3078His) | |
| 5 | g.13753476T>A | CA359192097 | DNAH5 | c.10629A>T (p.Leu3543Phe) c.10584A>T (p.Leu3528Phe) c.10737A>T (p.Leu3579Phe) c.9642A>T (p.Leu3214Phe) c.5826A>T (p.Leu1942Phe) c.5379A>T (p.Leu1793Phe) c.4716A>T (p.Leu1572Phe) c.9231A>T (p.Leu3077Phe) | |
| 5 | g.13753476T>C | CA443535955 | DNAH5 | c.10629A>G (p.Leu3543=) c.10584A>G (p.Leu3528=) c.10737A>G (p.Leu3579=) c.9642A>G (p.Leu3214=) c.5826A>G (p.Leu1942=) c.5379A>G (p.Leu1793=) c.4716A>G (p.Leu1572=) c.9231A>G (p.Leu3077=) | |
| 5 | g.13753476T>G | CA359192099 | DNAH5 | c.10629A>C (p.Leu3543Phe) c.10584A>C (p.Leu3528Phe) c.10737A>C (p.Leu3579Phe) c.9642A>C (p.Leu3214Phe) c.5826A>C (p.Leu1942Phe) c.5379A>C (p.Leu1793Phe) c.4716A>C (p.Leu1572Phe) c.9231A>C (p.Leu3077Phe) | |
| 5 | g.13753477A>C | CA359192101 | DNAH5 | c.10628T>G (p.Leu3543Ter) c.10583T>G (p.Leu3528Ter) c.10736T>G (p.Leu3579Ter) c.9641T>G (p.Leu3214Ter) c.5825T>G (p.Leu1942Ter) c.5378T>G (p.Leu1793Ter) c.4715T>G (p.Leu1572Ter) c.9230T>G (p.Leu3077Ter) | |
| 5 | g.13753477A>G | CA359192104 | DNAH5 | c.10628T>C (p.Leu3543Ser) c.10583T>C (p.Leu3528Ser) c.10736T>C (p.Leu3579Ser) c.9641T>C (p.Leu3214Ser) c.5825T>C (p.Leu1942Ser) c.5378T>C (p.Leu1793Ser) c.4715T>C (p.Leu1572Ser) c.9230T>C (p.Leu3077Ser) | |
| 5 | g.13753477A>T | CA359192103 | DNAH5 | c.10628T>A (p.Leu3543Ter) c.10583T>A (p.Leu3528Ter) c.10736T>A (p.Leu3579Ter) c.9641T>A (p.Leu3214Ter) c.5825T>A (p.Leu1942Ter) c.5378T>A (p.Leu1793Ter) c.4715T>A (p.Leu1572Ter) c.9230T>A (p.Leu3077Ter) | gnomAD v4 |
| 5 | g.13753478A= | CA1528423527 | DNAH5 | c.10627T= (p.Leu3543=) c.10582T= (p.Leu3528=) c.10735T= (p.Leu3579=) c.9640T= (p.Leu3214=) c.5824T= (p.Leu1942=) c.5377T= (p.Leu1793=) c.4714T= (p.Leu1572=) c.9229T= (p.Leu3077=) | |
| 5 | g.13753478A>C | CA359192106 | DNAH5 | c.10627T>G (p.Leu3543Val) c.10582T>G (p.Leu3528Val) c.10735T>G (p.Leu3579Val) c.9640T>G (p.Leu3214Val) c.5824T>G (p.Leu1942Val) c.5377T>G (p.Leu1793Val) c.4714T>G (p.Leu1572Val) c.9229T>G (p.Leu3077Val) |