| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13793475_13793563del | CA2673271229 | DNAH5 | c.8177_8224+41del c.8132_8179+41del n.8384_8431+41del c.8285_8332+41del c.7190_7237+41del c.3374_3421+41del c.2927_2974+41del c.2264_2311+41del c.6779_6826+41del n.8302_8349+41del | gnomAD v4 |
| 5 | g.13793486C= | CA1528441609 | DNAH5 | c.8224+29G= (n.8224+29G=) c.8179+29G= (n.8179+29G=) n.8431+29G= c.8332+29G= (n.8332+29G=) c.7237+29G= (n.7237+29G=) c.3421+29G= (n.3421+29G=) c.2974+29G= (n.2974+29G=) c.2311+29G= (n.2311+29G=) c.6826+29G= (n.6826+29G=) n.8349+29G= | |
| 5 | g.13793486C>G | CA3202868 | DNAH5 | c.8224+29G>C (n.8224+29G>C) c.8179+29G>C (n.8179+29G>C) n.8431+29G>C c.8332+29G>C (n.8332+29G>C) c.7237+29G>C (n.7237+29G>C) c.3421+29G>C (n.3421+29G>C) c.2974+29G>C (n.2974+29G>C) c.2311+29G>C (n.2311+29G>C) c.6826+29G>C (n.6826+29G>C) n.8349+29G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13793486C>T | CA3202867 | DNAH5 | c.8224+29G>A (n.8224+29G>A) c.8179+29G>A (n.8179+29G>A) n.8431+29G>A c.8332+29G>A (n.8332+29G>A) c.7237+29G>A (n.7237+29G>A) c.3421+29G>A (n.3421+29G>A) c.2974+29G>A (n.2974+29G>A) c.2311+29G>A (n.2311+29G>A) c.6826+29G>A (n.6826+29G>A) n.8349+29G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13793487T>A | CA2673271235 | DNAH5 | c.8224+28A>T (n.8224+28A>T) c.8179+28A>T (n.8179+28A>T) n.8431+28A>T c.8332+28A>T (n.8332+28A>T) c.7237+28A>T (n.7237+28A>T) c.3421+28A>T (n.3421+28A>T) c.2974+28A>T (n.2974+28A>T) c.2311+28A>T (n.2311+28A>T) c.6826+28A>T (n.6826+28A>T) n.8349+28A>T | gnomAD v4 |
| 5 | g.13793487T>G | CA2673271236 | DNAH5 | c.8224+28A>C (n.8224+28A>C) c.8179+28A>C (n.8179+28A>C) n.8431+28A>C c.8332+28A>C (n.8332+28A>C) c.7237+28A>C (n.7237+28A>C) c.3421+28A>C (n.3421+28A>C) c.2974+28A>C (n.2974+28A>C) c.2311+28A>C (n.2311+28A>C) c.6826+28A>C (n.6826+28A>C) n.8349+28A>C | gnomAD v4 |
| 5 | g.13793488C>T | CA2578270239 | DNAH5 | c.8224+27G>A (n.8224+27G>A) c.8179+27G>A (n.8179+27G>A) n.8431+27G>A c.8332+27G>A (n.8332+27G>A) c.7237+27G>A (n.7237+27G>A) c.3421+27G>A (n.3421+27G>A) c.2974+27G>A (n.2974+27G>A) c.2311+27G>A (n.2311+27G>A) c.6826+27G>A (n.6826+27G>A) n.8349+27G>A | |
| 5 | g.13793489C>A | CA2673271237 | DNAH5 | c.8224+26G>T (n.8224+26G>T) c.8179+26G>T (n.8179+26G>T) n.8431+26G>T c.8332+26G>T (n.8332+26G>T) c.7237+26G>T (n.7237+26G>T) c.3421+26G>T (n.3421+26G>T) c.2974+26G>T (n.2974+26G>T) c.2311+26G>T (n.2311+26G>T) c.6826+26G>T (n.6826+26G>T) n.8349+26G>T | gnomAD v4 |
| 5 | g.13793492C>G | CA2673271238 | DNAH5 | c.8224+23G>C (n.8224+23G>C) c.8179+23G>C (n.8179+23G>C) n.8431+23G>C c.8332+23G>C (n.8332+23G>C) c.7237+23G>C (n.7237+23G>C) c.3421+23G>C (n.3421+23G>C) c.2974+23G>C (n.2974+23G>C) c.2311+23G>C (n.2311+23G>C) c.6826+23G>C (n.6826+23G>C) n.8349+23G>C | gnomAD v4 |
| 5 | g.13793492C>T | CA2578270240 | DNAH5 | c.8224+23G>A (n.8224+23G>A) c.8179+23G>A (n.8179+23G>A) n.8431+23G>A c.8332+23G>A (n.8332+23G>A) c.7237+23G>A (n.7237+23G>A) c.3421+23G>A (n.3421+23G>A) c.2974+23G>A (n.2974+23G>A) c.2311+23G>A (n.2311+23G>A) c.6826+23G>A (n.6826+23G>A) n.8349+23G>A | |
| 5 | g.13793493C>A | CA2673271239 | DNAH5 | c.8224+22G>T (n.8224+22G>T) c.8179+22G>T (n.8179+22G>T) n.8431+22G>T c.8332+22G>T (n.8332+22G>T) c.7237+22G>T (n.7237+22G>T) c.3421+22G>T (n.3421+22G>T) c.2974+22G>T (n.2974+22G>T) c.2311+22G>T (n.2311+22G>T) c.6826+22G>T (n.6826+22G>T) n.8349+22G>T | gnomAD v4 |
| 5 | g.13793493C>G | CA2673271240 | DNAH5 | c.8224+22G>C (n.8224+22G>C) c.8179+22G>C (n.8179+22G>C) n.8431+22G>C c.8332+22G>C (n.8332+22G>C) c.7237+22G>C (n.7237+22G>C) c.3421+22G>C (n.3421+22G>C) c.2974+22G>C (n.2974+22G>C) c.2311+22G>C (n.2311+22G>C) c.6826+22G>C (n.6826+22G>C) n.8349+22G>C | gnomAD v4 |
| 5 | g.13793494C>G | CA2673271241 | DNAH5 | c.8224+21G>C (n.8224+21G>C) c.8179+21G>C (n.8179+21G>C) n.8431+21G>C c.8332+21G>C (n.8332+21G>C) c.7237+21G>C (n.7237+21G>C) c.3421+21G>C (n.3421+21G>C) c.2974+21G>C (n.2974+21G>C) c.2311+21G>C (n.2311+21G>C) c.6826+21G>C (n.6826+21G>C) n.8349+21G>C | gnomAD v4 |
| 5 | g.13793495C>A | CA804443006 | DNAH5 | c.8224+20G>T (n.8224+20G>T) c.8179+20G>T (n.8179+20G>T) n.8431+20G>T c.8332+20G>T (n.8332+20G>T) c.7237+20G>T (n.7237+20G>T) c.3421+20G>T (n.3421+20G>T) c.2974+20G>T (n.2974+20G>T) c.2311+20G>T (n.2311+20G>T) c.6826+20G>T (n.6826+20G>T) n.8349+20G>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13793495C= | CA1528441610 | DNAH5 | c.8224+20G= (n.8224+20G=) c.8179+20G= (n.8179+20G=) n.8431+20G= c.8332+20G= (n.8332+20G=) c.7237+20G= (n.7237+20G=) c.3421+20G= (n.3421+20G=) c.2974+20G= (n.2974+20G=) c.2311+20G= (n.2311+20G=) c.6826+20G= (n.6826+20G=) n.8349+20G= | |
| 5 | g.13793495C>G | CA2578270241 | DNAH5 | c.8224+20G>C (n.8224+20G>C) c.8179+20G>C (n.8179+20G>C) n.8431+20G>C c.8332+20G>C (n.8332+20G>C) c.7237+20G>C (n.7237+20G>C) c.3421+20G>C (n.3421+20G>C) c.2974+20G>C (n.2974+20G>C) c.2311+20G>C (n.2311+20G>C) c.6826+20G>C (n.6826+20G>C) n.8349+20G>C | ClinVar gnomAD v4 |
| 5 | g.13793495C>T | CA2673271242 | DNAH5 | c.8224+20G>A (n.8224+20G>A) c.8179+20G>A (n.8179+20G>A) n.8431+20G>A c.8332+20G>A (n.8332+20G>A) c.7237+20G>A (n.7237+20G>A) c.3421+20G>A (n.3421+20G>A) c.2974+20G>A (n.2974+20G>A) c.2311+20G>A (n.2311+20G>A) c.6826+20G>A (n.6826+20G>A) n.8349+20G>A | gnomAD v4 |
| 5 | g.13793497C>A | CA2673271243 | DNAH5 | c.8224+18G>T (n.8224+18G>T) c.8179+18G>T (n.8179+18G>T) n.8431+18G>T c.8332+18G>T (n.8332+18G>T) c.7237+18G>T (n.7237+18G>T) c.3421+18G>T (n.3421+18G>T) c.2974+18G>T (n.2974+18G>T) c.2311+18G>T (n.2311+18G>T) c.6826+18G>T (n.6826+18G>T) n.8349+18G>T | gnomAD v4 |
| 5 | g.13793497C= | CA1528441611 | DNAH5 | c.8224+18G= (n.8224+18G=) c.8179+18G= (n.8179+18G=) n.8431+18G= c.8332+18G= (n.8332+18G=) c.7237+18G= (n.7237+18G=) c.3421+18G= (n.3421+18G=) c.2974+18G= (n.2974+18G=) c.2311+18G= (n.2311+18G=) c.6826+18G= (n.6826+18G=) n.8349+18G= | |
| 5 | g.13793497C>T | CA3202869 | DNAH5 | c.8224+18G>A (n.8224+18G>A) c.8179+18G>A (n.8179+18G>A) n.8431+18G>A c.8332+18G>A (n.8332+18G>A) c.7237+18G>A (n.7237+18G>A) c.3421+18G>A (n.3421+18G>A) c.2974+18G>A (n.2974+18G>A) c.2311+18G>A (n.2311+18G>A) c.6826+18G>A (n.6826+18G>A) n.8349+18G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13793498A= | CA1528441612 | DNAH5 | c.8224+17T= (n.8224+17T=) c.8179+17T= (n.8179+17T=) n.8431+17T= c.8332+17T= (n.8332+17T=) c.7237+17T= (n.7237+17T=) c.3421+17T= (n.3421+17T=) c.2974+17T= (n.2974+17T=) c.2311+17T= (n.2311+17T=) c.6826+17T= (n.6826+17T=) n.8349+17T= | |
| 5 | g.13793498A>C | CA3202870 | DNAH5 | c.8224+17T>G (n.8224+17T>G) c.8179+17T>G (n.8179+17T>G) n.8431+17T>G c.8332+17T>G (n.8332+17T>G) c.7237+17T>G (n.7237+17T>G) c.3421+17T>G (n.3421+17T>G) c.2974+17T>G (n.2974+17T>G) c.2311+17T>G (n.2311+17T>G) c.6826+17T>G (n.6826+17T>G) n.8349+17T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13793499T>A | CA2673271244 | DNAH5 | c.8224+16A>T (n.8224+16A>T) c.8179+16A>T (n.8179+16A>T) n.8431+16A>T c.8332+16A>T (n.8332+16A>T) c.7237+16A>T (n.7237+16A>T) c.3421+16A>T (n.3421+16A>T) c.2974+16A>T (n.2974+16A>T) c.2311+16A>T (n.2311+16A>T) c.6826+16A>T (n.6826+16A>T) n.8349+16A>T | gnomAD v4 |
| 5 | g.13793499T>C | CA113961616 | DNAH5 | c.8224+16A>G (n.8224+16A>G) c.8179+16A>G (n.8179+16A>G) n.8431+16A>G c.8332+16A>G (n.8332+16A>G) c.7237+16A>G (n.7237+16A>G) c.3421+16A>G (n.3421+16A>G) c.2974+16A>G (n.2974+16A>G) c.2311+16A>G (n.2311+16A>G) c.6826+16A>G (n.6826+16A>G) n.8349+16A>G | dbSNP gnomAD v4 |
| 5 | g.13793499T= | CA1528441613 | DNAH5 | c.8224+16A= (n.8224+16A=) c.8179+16A= (n.8179+16A=) n.8431+16A= c.8332+16A= (n.8332+16A=) c.7237+16A= (n.7237+16A=) c.3421+16A= (n.3421+16A=) c.2974+16A= (n.2974+16A=) c.2311+16A= (n.2311+16A=) c.6826+16A= (n.6826+16A=) n.8349+16A= | |
| 5 | g.13793500C= | CA1528441614 | DNAH5 | c.8224+15G= (n.8224+15G=) c.8179+15G= (n.8179+15G=) n.8431+15G= c.8332+15G= (n.8332+15G=) c.7237+15G= (n.7237+15G=) c.3421+15G= (n.3421+15G=) c.2974+15G= (n.2974+15G=) c.2311+15G= (n.2311+15G=) c.6826+15G= (n.6826+15G=) n.8349+15G= | |
| 5 | g.13793500C>T | CA3202871 | DNAH5 | c.8224+15G>A (n.8224+15G>A) c.8179+15G>A (n.8179+15G>A) n.8431+15G>A c.8332+15G>A (n.8332+15G>A) c.7237+15G>A (n.7237+15G>A) c.3421+15G>A (n.3421+15G>A) c.2974+15G>A (n.2974+15G>A) c.2311+15G>A (n.2311+15G>A) c.6826+15G>A (n.6826+15G>A) n.8349+15G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13793501C= | CA1528441615 | DNAH5 | c.8224+14G= (n.8224+14G=) c.8179+14G= (n.8179+14G=) n.8431+14G= c.8332+14G= (n.8332+14G=) c.7237+14G= (n.7237+14G=) c.3421+14G= (n.3421+14G=) c.2974+14G= (n.2974+14G=) c.2311+14G= (n.2311+14G=) c.6826+14G= (n.6826+14G=) n.8349+14G= | |
| 5 | g.13793501C>G | CA2697547088 | DNAH5 | c.8224+14G>C (n.8224+14G>C) c.8179+14G>C (n.8179+14G>C) n.8431+14G>C c.8332+14G>C (n.8332+14G>C) c.7237+14G>C (n.7237+14G>C) c.3421+14G>C (n.3421+14G>C) c.2974+14G>C (n.2974+14G>C) c.2311+14G>C (n.2311+14G>C) c.6826+14G>C (n.6826+14G>C) n.8349+14G>C | ClinVar |
| 5 | g.13793501C>T | CA804443020 | DNAH5 | c.8224+14G>A (n.8224+14G>A) c.8179+14G>A (n.8179+14G>A) n.8431+14G>A c.8332+14G>A (n.8332+14G>A) c.7237+14G>A (n.7237+14G>A) c.3421+14G>A (n.3421+14G>A) c.2974+14G>A (n.2974+14G>A) c.2311+14G>A (n.2311+14G>A) c.6826+14G>A (n.6826+14G>A) n.8349+14G>A | dbSNP |
| 5 | g.13793502T>C | CA2740091691 | DNAH5 | c.8224+13A>G (n.8224+13A>G) c.8179+13A>G (n.8179+13A>G) n.8431+13A>G c.8332+13A>G (n.8332+13A>G) c.7237+13A>G (n.7237+13A>G) c.3421+13A>G (n.3421+13A>G) c.2974+13A>G (n.2974+13A>G) c.2311+13A>G (n.2311+13A>G) c.6826+13A>G (n.6826+13A>G) n.8349+13A>G | ClinVar |
| 5 | g.13793504T>C | CA3202872 | DNAH5 | c.8224+11A>G (n.8224+11A>G) c.8179+11A>G (n.8179+11A>G) n.8431+11A>G c.8332+11A>G (n.8332+11A>G) c.7237+11A>G (n.7237+11A>G) c.3421+11A>G (n.3421+11A>G) c.2974+11A>G (n.2974+11A>G) c.2311+11A>G (n.2311+11A>G) c.6826+11A>G (n.6826+11A>G) n.8349+11A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13793504T= | CA1528441616 | DNAH5 | c.8224+11A= (n.8224+11A=) c.8179+11A= (n.8179+11A=) n.8431+11A= c.8332+11A= (n.8332+11A=) c.7237+11A= (n.7237+11A=) c.3421+11A= (n.3421+11A=) c.2974+11A= (n.2974+11A=) c.2311+11A= (n.2311+11A=) c.6826+11A= (n.6826+11A=) n.8349+11A= | |
| 5 | g.13793505T>C | CA3202873 | DNAH5 | c.8224+10A>G (n.8224+10A>G) c.8179+10A>G (n.8179+10A>G) n.8431+10A>G c.8332+10A>G (n.8332+10A>G) c.7237+10A>G (n.7237+10A>G) c.3421+10A>G (n.3421+10A>G) c.2974+10A>G (n.2974+10A>G) c.2311+10A>G (n.2311+10A>G) c.6826+10A>G (n.6826+10A>G) n.8349+10A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13793505T= | CA1528441617 | DNAH5 | c.8224+10A= (n.8224+10A=) c.8179+10A= (n.8179+10A=) n.8431+10A= c.8332+10A= (n.8332+10A=) c.7237+10A= (n.7237+10A=) c.3421+10A= (n.3421+10A=) c.2974+10A= (n.2974+10A=) c.2311+10A= (n.2311+10A=) c.6826+10A= (n.6826+10A=) n.8349+10A= | |
| 5 | g.13793506G>C | CA2673271246 | DNAH5 | c.8224+9C>G (n.8224+9C>G) c.8179+9C>G (n.8179+9C>G) n.8431+9C>G c.8332+9C>G (n.8332+9C>G) c.7237+9C>G (n.7237+9C>G) c.3421+9C>G (n.3421+9C>G) c.2974+9C>G (n.2974+9C>G) c.2311+9C>G (n.2311+9C>G) c.6826+9C>G (n.6826+9C>G) n.8349+9C>G | gnomAD v4 |
| 5 | g.13793506G>T | CA2673271245 | DNAH5 | c.8224+9C>A (n.8224+9C>A) c.8179+9C>A (n.8179+9C>A) n.8431+9C>A c.8332+9C>A (n.8332+9C>A) c.7237+9C>A (n.7237+9C>A) c.3421+9C>A (n.3421+9C>A) c.2974+9C>A (n.2974+9C>A) c.2311+9C>A (n.2311+9C>A) c.6826+9C>A (n.6826+9C>A) n.8349+9C>A | gnomAD v4 |
| 5 | g.13793512_13793524del | CA2697547089 | DNAH5 | c.8221_8224+9del c.8176_8179+9del n.8428_8431+9del c.8329_8332+9del c.7234_7237+9del c.3418_3421+9del c.2971_2974+9del c.2308_2311+9del c.6823_6826+9del n.8346_8349+9del | ClinVar |
| 5 | g.13793510T>C | CA1073399831 | DNAH5 | c.8224+5A>G (n.8224+5A>G) c.8179+5A>G (n.8179+5A>G) n.8431+5A>G c.8332+5A>G (n.8332+5A>G) c.7237+5A>G (n.7237+5A>G) c.3421+5A>G (n.3421+5A>G) c.2974+5A>G (n.2974+5A>G) c.2311+5A>G (n.2311+5A>G) c.6826+5A>G (n.6826+5A>G) n.8349+5A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13793510T= | CA1528441618 | DNAH5 | c.8224+5A= (n.8224+5A=) c.8179+5A= (n.8179+5A=) n.8431+5A= c.8332+5A= (n.8332+5A=) c.7237+5A= (n.7237+5A=) c.3421+5A= (n.3421+5A=) c.2974+5A= (n.2974+5A=) c.2311+5A= (n.2311+5A=) c.6826+5A= (n.6826+5A=) n.8349+5A= | |
| 5 | g.13793513A>C | CA359220687 | DNAH5 | c.8224+2T>G (n.8224+2T>G) c.8179+2T>G (n.8179+2T>G) n.8431+2T>G c.8332+2T>G (n.8332+2T>G) c.7237+2T>G (n.7237+2T>G) c.3421+2T>G (n.3421+2T>G) c.2974+2T>G (n.2974+2T>G) c.2311+2T>G (n.2311+2T>G) c.6826+2T>G (n.6826+2T>G) n.8349+2T>G | |
| 5 | g.13793513A>G | CA359220689 | DNAH5 | c.8224+2T>C (n.8224+2T>C) c.8179+2T>C (n.8179+2T>C) n.8431+2T>C c.8332+2T>C (n.8332+2T>C) c.7237+2T>C (n.7237+2T>C) c.3421+2T>C (n.3421+2T>C) c.2974+2T>C (n.2974+2T>C) c.2311+2T>C (n.2311+2T>C) c.6826+2T>C (n.6826+2T>C) n.8349+2T>C | |
| 5 | g.13793513A>T | CA359220691 | DNAH5 | c.8224+2T>A (n.8224+2T>A) c.8179+2T>A (n.8179+2T>A) n.8431+2T>A c.8332+2T>A (n.8332+2T>A) c.7237+2T>A (n.7237+2T>A) c.3421+2T>A (n.3421+2T>A) c.2974+2T>A (n.2974+2T>A) c.2311+2T>A (n.2311+2T>A) c.6826+2T>A (n.6826+2T>A) n.8349+2T>A | |
| 5 | g.13793514C>A | CA359220696 | DNAH5 | c.8224+1G>T (n.8224+1G>T) c.8179+1G>T (n.8179+1G>T) n.8431+1G>T c.8332+1G>T (n.8332+1G>T) c.7237+1G>T (n.7237+1G>T) c.3421+1G>T (n.3421+1G>T) c.2974+1G>T (n.2974+1G>T) c.2311+1G>T (n.2311+1G>T) c.6826+1G>T (n.6826+1G>T) n.8349+1G>T | |
| 5 | g.13793514C= | CA1528441619 | DNAH5 | c.8224+1G= (n.8224+1G=) c.8179+1G= (n.8179+1G=) n.8431+1G= c.8332+1G= (n.8332+1G=) c.7237+1G= (n.7237+1G=) c.3421+1G= (n.3421+1G=) c.2974+1G= (n.2974+1G=) c.2311+1G= (n.2311+1G=) c.6826+1G= (n.6826+1G=) n.8349+1G= | |
| 5 | g.13793514C>G | CA359220694 | DNAH5 | c.8224+1G>C (n.8224+1G>C) c.8179+1G>C (n.8179+1G>C) n.8431+1G>C c.8332+1G>C (n.8332+1G>C) c.7237+1G>C (n.7237+1G>C) c.3421+1G>C (n.3421+1G>C) c.2974+1G>C (n.2974+1G>C) c.2311+1G>C (n.2311+1G>C) c.6826+1G>C (n.6826+1G>C) n.8349+1G>C | |
| 5 | g.13793514C>T | CA359220695 | DNAH5 | c.8224+1G>A (n.8224+1G>A) c.8179+1G>A (n.8179+1G>A) n.8431+1G>A c.8332+1G>A (n.8332+1G>A) c.7237+1G>A (n.7237+1G>A) c.3421+1G>A (n.3421+1G>A) c.2974+1G>A (n.2974+1G>A) c.2311+1G>A (n.2311+1G>A) c.6826+1G>A (n.6826+1G>A) n.8349+1G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13793515C>A | CA359220697 | DNAH5 | c.8224G>T (p.Gly2742Cys) c.8179G>T (p.Gly2727Cys) n.8431G>T c.8332G>T (p.Gly2778Cys) c.7237G>T (p.Gly2413Cys) c.3421G>T (p.Gly1141Cys) c.2974G>T (p.Gly992Cys) c.2311G>T (p.Gly771Cys) c.6826G>T (p.Gly2276Cys) n.8349G>T | |
| 5 | g.13793515C>G | CA359220698 | DNAH5 | c.8224G>C (p.Gly2742Arg) c.8179G>C (p.Gly2727Arg) n.8431G>C c.8332G>C (p.Gly2778Arg) c.7237G>C (p.Gly2413Arg) c.3421G>C (p.Gly1141Arg) c.2974G>C (p.Gly992Arg) c.2311G>C (p.Gly771Arg) c.6826G>C (p.Gly2276Arg) n.8349G>C | |
| 5 | g.13793515C>T | CA359220699 | DNAH5 | c.8224G>A (p.Gly2742Ser) c.8179G>A (p.Gly2727Ser) n.8431G>A c.8332G>A (p.Gly2778Ser) c.7237G>A (p.Gly2413Ser) c.3421G>A (p.Gly1141Ser) c.2974G>A (p.Gly992Ser) c.2311G>A (p.Gly771Ser) c.6826G>A (p.Gly2276Ser) n.8349G>A | |
| 5 | g.13793516A>C | CA359220701 | DNAH5 | c.8223T>G (p.Phe2741Leu) c.8178T>G (p.Phe2726Leu) n.8430T>G c.8331T>G (p.Phe2777Leu) c.7236T>G (p.Phe2412Leu) c.3420T>G (p.Phe1140Leu) c.2973T>G (p.Phe991Leu) c.2310T>G (p.Phe770Leu) c.6825T>G (p.Phe2275Leu) n.8348T>G | gnomAD v4 |
| 5 | g.13793516A>G | CA443265581 | DNAH5 | c.8223T>C (p.Phe2741=) c.8178T>C (p.Phe2726=) n.8430T>C c.8331T>C (p.Phe2777=) c.7236T>C (p.Phe2412=) c.3420T>C (p.Phe1140=) c.2973T>C (p.Phe991=) c.2310T>C (p.Phe770=) c.6825T>C (p.Phe2275=) n.8348T>C | |
| 5 | g.13793516A>T | CA359220702 | DNAH5 | c.8223T>A (p.Phe2741Leu) c.8178T>A (p.Phe2726Leu) n.8430T>A c.8331T>A (p.Phe2777Leu) c.7236T>A (p.Phe2412Leu) c.3420T>A (p.Phe1140Leu) c.2973T>A (p.Phe991Leu) c.2310T>A (p.Phe770Leu) c.6825T>A (p.Phe2275Leu) n.8348T>A | |
| 5 | g.13793517A>C | CA359220705 | DNAH5 | c.8222T>G (p.Phe2741Cys) c.8177T>G (p.Phe2726Cys) n.8429T>G c.8330T>G (p.Phe2777Cys) c.7235T>G (p.Phe2412Cys) c.3419T>G (p.Phe1140Cys) c.2972T>G (p.Phe991Cys) c.2309T>G (p.Phe770Cys) c.6824T>G (p.Phe2275Cys) n.8347T>G | |
| 5 | g.13793517A>G | CA359220716 | DNAH5 | c.8222T>C (p.Phe2741Ser) c.8177T>C (p.Phe2726Ser) n.8429T>C c.8330T>C (p.Phe2777Ser) c.7235T>C (p.Phe2412Ser) c.3419T>C (p.Phe1140Ser) c.2972T>C (p.Phe991Ser) c.2309T>C (p.Phe770Ser) c.6824T>C (p.Phe2275Ser) n.8347T>C | |
| 5 | g.13793517A>T | CA359220709 | DNAH5 | c.8222T>A (p.Phe2741Tyr) c.8177T>A (p.Phe2726Tyr) n.8429T>A c.8330T>A (p.Phe2777Tyr) c.7235T>A (p.Phe2412Tyr) c.3419T>A (p.Phe1140Tyr) c.2972T>A (p.Phe991Tyr) c.2309T>A (p.Phe770Tyr) c.6824T>A (p.Phe2275Tyr) n.8347T>A | |
| 5 | g.13793518A= | CA1528441620 | DNAH5 | c.8221T= (p.Phe2741=) c.8176T= (p.Phe2726=) n.8428T= c.8329T= (p.Phe2777=) c.7234T= (p.Phe2412=) c.3418T= (p.Phe1140=) c.2971T= (p.Phe991=) c.2308T= (p.Phe770=) c.6823T= (p.Phe2275=) n.8346T= | |
| 5 | g.13793518A>C | CA359220723 | DNAH5 | c.8221T>G (p.Phe2741Val) c.8176T>G (p.Phe2726Val) n.8428T>G c.8329T>G (p.Phe2777Val) c.7234T>G (p.Phe2412Val) c.3418T>G (p.Phe1140Val) c.2971T>G (p.Phe991Val) c.2308T>G (p.Phe770Val) c.6823T>G (p.Phe2275Val) n.8346T>G | |
| 5 | g.13793518A>G | CA359220727 | DNAH5 | c.8221T>C (p.Phe2741Leu) c.8176T>C (p.Phe2726Leu) n.8428T>C c.8329T>C (p.Phe2777Leu) c.7234T>C (p.Phe2412Leu) c.3418T>C (p.Phe1140Leu) c.2971T>C (p.Phe991Leu) c.2308T>C (p.Phe770Leu) c.6823T>C (p.Phe2275Leu) n.8346T>C | dbSNP |
| 5 | g.13793518A>T | CA359220728 | DNAH5 | c.8221T>A (p.Phe2741Ile) c.8176T>A (p.Phe2726Ile) n.8428T>A c.8329T>A (p.Phe2777Ile) c.7234T>A (p.Phe2412Ile) c.3418T>A (p.Phe1140Ile) c.2971T>A (p.Phe991Ile) c.2308T>A (p.Phe770Ile) c.6823T>A (p.Phe2275Ile) n.8346T>A | |
| 5 | g.13793519G>A | CA3202874 | DNAH5 | c.8220C>T (p.Ile2740=) c.8175C>T (p.Ile2725=) n.8427C>T c.8328C>T (p.Ile2776=) c.7233C>T (p.Ile2411=) c.3417C>T (p.Ile1139=) c.2970C>T (p.Ile990=) c.2307C>T (p.Ile769=) c.6822C>T (p.Ile2274=) n.8345C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13793519G>C | CA359220732 | DNAH5 | c.8220C>G (p.Ile2740Met) c.8175C>G (p.Ile2725Met) n.8427C>G c.8328C>G (p.Ile2776Met) c.7233C>G (p.Ile2411Met) c.3417C>G (p.Ile1139Met) c.2970C>G (p.Ile990Met) c.2307C>G (p.Ile769Met) c.6822C>G (p.Ile2274Met) n.8345C>G | |
| 5 | g.13793519G= | CA1528441621 | DNAH5 | c.8220C= (p.Ile2740=) c.8175C= (p.Ile2725=) n.8427C= c.8328C= (p.Ile2776=) c.7233C= (p.Ile2411=) c.3417C= (p.Ile1139=) c.2970C= (p.Ile990=) c.2307C= (p.Ile769=) c.6822C= (p.Ile2274=) n.8345C= | |
| 5 | g.13793519G>T | CA443265595 | DNAH5 | c.8220C>A (p.Ile2740=) c.8175C>A (p.Ile2725=) n.8427C>A c.8328C>A (p.Ile2776=) c.7233C>A (p.Ile2411=) c.3417C>A (p.Ile1139=) c.2970C>A (p.Ile990=) c.2307C>A (p.Ile769=) c.6822C>A (p.Ile2274=) n.8345C>A | |
| 5 | g.13793520A= | CA1528441622 | DNAH5 | c.8219T= (p.Ile2740=) c.8174T= (p.Ile2725=) n.8426T= c.8327T= (p.Ile2776=) c.7232T= (p.Ile2411=) c.3416T= (p.Ile1139=) c.2969T= (p.Ile990=) c.2306T= (p.Ile769=) c.6821T= (p.Ile2274=) n.8344T= | |
| 5 | g.13793520A>C | CA359220733 | DNAH5 | c.8219T>G (p.Ile2740Ser) c.8174T>G (p.Ile2725Ser) n.8426T>G c.8327T>G (p.Ile2776Ser) c.7232T>G (p.Ile2411Ser) c.3416T>G (p.Ile1139Ser) c.2969T>G (p.Ile990Ser) c.2306T>G (p.Ile769Ser) c.6821T>G (p.Ile2274Ser) n.8344T>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13793520A>G | CA359220734 | DNAH5 | c.8219T>C (p.Ile2740Thr) c.8174T>C (p.Ile2725Thr) n.8426T>C c.8327T>C (p.Ile2776Thr) c.7232T>C (p.Ile2411Thr) c.3416T>C (p.Ile1139Thr) c.2969T>C (p.Ile990Thr) c.2306T>C (p.Ile769Thr) c.6821T>C (p.Ile2274Thr) n.8344T>C | gnomAD v4 |
| 5 | g.13793520A>T | CA359220738 | DNAH5 | c.8219T>A (p.Ile2740Asn) c.8174T>A (p.Ile2725Asn) n.8426T>A c.8327T>A (p.Ile2776Asn) c.7232T>A (p.Ile2411Asn) c.3416T>A (p.Ile1139Asn) c.2969T>A (p.Ile990Asn) c.2306T>A (p.Ile769Asn) c.6821T>A (p.Ile2274Asn) n.8344T>A | |
| 5 | g.13793521T>A | CA359220742 | DNAH5 | c.8218A>T (p.Ile2740Phe) c.8173A>T (p.Ile2725Phe) n.8425A>T c.8326A>T (p.Ile2776Phe) c.7231A>T (p.Ile2411Phe) c.3415A>T (p.Ile1139Phe) c.2968A>T (p.Ile990Phe) c.2305A>T (p.Ile769Phe) c.6820A>T (p.Ile2274Phe) n.8343A>T | |
| 5 | g.13793521T>C | CA359220754 | DNAH5 | c.8218A>G (p.Ile2740Val) c.8173A>G (p.Ile2725Val) n.8425A>G c.8326A>G (p.Ile2776Val) c.7231A>G (p.Ile2411Val) c.3415A>G (p.Ile1139Val) c.2968A>G (p.Ile990Val) c.2305A>G (p.Ile769Val) c.6820A>G (p.Ile2274Val) n.8343A>G | dbSNP |
| 5 | g.13793521T>G | CA359220765 | DNAH5 | c.8218A>C (p.Ile2740Leu) c.8173A>C (p.Ile2725Leu) n.8425A>C c.8326A>C (p.Ile2776Leu) c.7231A>C (p.Ile2411Leu) c.3415A>C (p.Ile1139Leu) c.2968A>C (p.Ile990Leu) c.2305A>C (p.Ile769Leu) c.6820A>C (p.Ile2274Leu) n.8343A>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13793521T= | CA1528441623 | DNAH5 | c.8218A= (p.Ile2740=) c.8173A= (p.Ile2725=) n.8425A= c.8326A= (p.Ile2776=) c.7231A= (p.Ile2411=) c.3415A= (p.Ile1139=) c.2968A= (p.Ile990=) c.2305A= (p.Ile769=) c.6820A= (p.Ile2274=) n.8343A= | |
| 5 | g.13793522C>A | CA359220772 | DNAH5 | c.8217G>T (p.Lys2739Asn) c.8172G>T (p.Lys2724Asn) n.8424G>T c.8325G>T (p.Lys2775Asn) c.7230G>T (p.Lys2410Asn) c.3414G>T (p.Lys1138Asn) c.2967G>T (p.Lys989Asn) c.2304G>T (p.Lys768Asn) c.6819G>T (p.Lys2273Asn) n.8342G>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13793522C= | CA1528441624 | DNAH5 | c.8217G= (p.Lys2739=) c.8172G= (p.Lys2724=) n.8424G= c.8325G= (p.Lys2775=) c.7230G= (p.Lys2410=) c.3414G= (p.Lys1138=) c.2967G= (p.Lys989=) c.2304G= (p.Lys768=) c.6819G= (p.Lys2273=) n.8342G= | |
| 5 | g.13793522C>G | CA3202876 | DNAH5 | c.8217G>C (p.Lys2739Asn) c.8172G>C (p.Lys2724Asn) n.8424G>C c.8325G>C (p.Lys2775Asn) c.7230G>C (p.Lys2410Asn) c.3414G>C (p.Lys1138Asn) c.2967G>C (p.Lys989Asn) c.2304G>C (p.Lys768Asn) c.6819G>C (p.Lys2273Asn) n.8342G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13793522C>T | CA3202877 | DNAH5 | c.8217G>A (p.Lys2739=) c.8172G>A (p.Lys2724=) n.8424G>A c.8325G>A (p.Lys2775=) c.7230G>A (p.Lys2410=) c.3414G>A (p.Lys1138=) c.2967G>A (p.Lys989=) c.2304G>A (p.Lys768=) c.6819G>A (p.Lys2273=) n.8342G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13793522_13793523insCACAGAAGC | CA3202875 | DNAH5 | c.8217_8218insCTTCTGTGG (p.Lys2739_Ile2740insLeuLeuTrp) c.8172_8173insCTTCTGTGG (p.Lys2724_Ile2725insLeuLeuTrp) n.8424_8425insCTTCTGTGG c.8325_8326insCTTCTGTGG (p.Lys2775_Ile2776insLeuLeuTrp) c.7230_7231insCTTCTGTGG (p.Lys2410_Ile2411insLeuLeuTrp) c.3414_3415insCTTCTGTGG (p.Lys1138_Ile1139insLeuLeuTrp) c.2967_2968insCTTCTGTGG (p.Lys989_Ile990insLeuLeuTrp) c.2304_2305insCTTCTGTGG (p.Lys768_Ile769insLeuLeuTrp) c.6819_6820insCTTCTGTGG (p.Lys2273_Ile2274insLeuLeuTrp) n.8342_8343insCTTCTGTGG | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13793523T>A | CA359220789 | DNAH5 | c.8216A>T (p.Lys2739Met) c.8171A>T (p.Lys2724Met) n.8423A>T c.8324A>T (p.Lys2775Met) c.7229A>T (p.Lys2410Met) c.3413A>T (p.Lys1138Met) c.2966A>T (p.Lys989Met) c.2303A>T (p.Lys768Met) c.6818A>T (p.Lys2273Met) n.8341A>T | |
| 5 | g.13793523T>C | CA359220787 | DNAH5 | c.8216A>G (p.Lys2739Arg) c.8171A>G (p.Lys2724Arg) n.8423A>G c.8324A>G (p.Lys2775Arg) c.7229A>G (p.Lys2410Arg) c.3413A>G (p.Lys1138Arg) c.2966A>G (p.Lys989Arg) c.2303A>G (p.Lys768Arg) c.6818A>G (p.Lys2273Arg) n.8341A>G | |
| 5 | g.13793523T>G | CA359220790 | DNAH5 | c.8216A>C (p.Lys2739Thr) c.8171A>C (p.Lys2724Thr) n.8423A>C c.8324A>C (p.Lys2775Thr) c.7229A>C (p.Lys2410Thr) c.3413A>C (p.Lys1138Thr) c.2966A>C (p.Lys989Thr) c.2303A>C (p.Lys768Thr) c.6818A>C (p.Lys2273Thr) n.8341A>C | |
| 5 | g.13793524del | CA2573052432 | DNAH5 | c.8216del (p.Lys2739ArgfsTer5) c.8171del (p.Lys2724ArgfsTer5) n.8423del c.8324del (p.Lys2775ArgfsTer5) c.7229del (p.Lys2410ArgfsTer5) c.3413del (p.Lys1138ArgfsTer5) c.2966del (p.Lys989ArgfsTer5) c.2303del (p.Lys768ArgfsTer5) c.6818del (p.Lys2273ArgfsTer5) n.8341del | dbSNP |
| 5 | g.13793524T>A | CA359220793 | DNAH5 | c.8215A>T (p.Lys2739Ter) c.8170A>T (p.Lys2724Ter) n.8422A>T c.8323A>T (p.Lys2775Ter) c.7228A>T (p.Lys2410Ter) c.3412A>T (p.Lys1138Ter) c.2965A>T (p.Lys989Ter) c.2302A>T (p.Lys768Ter) c.6817A>T (p.Lys2273Ter) n.8340A>T | |
| 5 | g.13793524T>C | CA359220809 | DNAH5 | c.8215A>G (p.Lys2739Glu) c.8170A>G (p.Lys2724Glu) n.8422A>G c.8323A>G (p.Lys2775Glu) c.7228A>G (p.Lys2410Glu) c.3412A>G (p.Lys1138Glu) c.2965A>G (p.Lys989Glu) c.2302A>G (p.Lys768Glu) c.6817A>G (p.Lys2273Glu) n.8340A>G | gnomAD v4 |
| 5 | g.13793524T>G | CA359220799 | DNAH5 | c.8215A>C (p.Lys2739Gln) c.8170A>C (p.Lys2724Gln) n.8422A>C c.8323A>C (p.Lys2775Gln) c.7228A>C (p.Lys2410Gln) c.3412A>C (p.Lys1138Gln) c.2965A>C (p.Lys989Gln) c.2302A>C (p.Lys768Gln) c.6817A>C (p.Lys2273Gln) n.8340A>C | |
| 5 | g.13793525G>A | CA3202878 | DNAH5 | c.8214C>T (p.Asp2738=) c.8169C>T (p.Asp2723=) n.8421C>T c.8322C>T (p.Asp2774=) c.7227C>T (p.Asp2409=) c.3411C>T (p.Asp1137=) c.2964C>T (p.Asp988=) c.2301C>T (p.Asp767=) c.6816C>T (p.Asp2272=) n.8339C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13793525G>C | CA359220816 | DNAH5 | c.8214C>G (p.Asp2738Glu) c.8169C>G (p.Asp2723Glu) n.8421C>G c.8322C>G (p.Asp2774Glu) c.7227C>G (p.Asp2409Glu) c.3411C>G (p.Asp1137Glu) c.2964C>G (p.Asp988Glu) c.2301C>G (p.Asp767Glu) c.6816C>G (p.Asp2272Glu) n.8339C>G | |
| 5 | g.13793525G= | CA1528441625 | DNAH5 | c.8214C= (p.Asp2738=) c.8169C= (p.Asp2723=) n.8421C= c.8322C= (p.Asp2774=) c.7227C= (p.Asp2409=) c.3411C= (p.Asp1137=) c.2964C= (p.Asp988=) c.2301C= (p.Asp767=) c.6816C= (p.Asp2272=) n.8339C= | |
| 5 | g.13793525G>T | CA359220814 | DNAH5 | c.8214C>A (p.Asp2738Glu) c.8169C>A (p.Asp2723Glu) n.8421C>A c.8322C>A (p.Asp2774Glu) c.7227C>A (p.Asp2409Glu) c.3411C>A (p.Asp1137Glu) c.2964C>A (p.Asp988Glu) c.2301C>A (p.Asp767Glu) c.6816C>A (p.Asp2272Glu) n.8339C>A | COSMIC |
| 5 | g.13793526T>A | CA359220818 | DNAH5 | c.8213A>T (p.Asp2738Val) c.8168A>T (p.Asp2723Val) n.8420A>T c.8321A>T (p.Asp2774Val) c.7226A>T (p.Asp2409Val) c.3410A>T (p.Asp1137Val) c.2963A>T (p.Asp988Val) c.2300A>T (p.Asp767Val) c.6815A>T (p.Asp2272Val) n.8338A>T | |
| 5 | g.13793526T>C | CA359220821 | DNAH5 | c.8213A>G (p.Asp2738Gly) c.8168A>G (p.Asp2723Gly) n.8420A>G c.8321A>G (p.Asp2774Gly) c.7226A>G (p.Asp2409Gly) c.3410A>G (p.Asp1137Gly) c.2963A>G (p.Asp988Gly) c.2300A>G (p.Asp767Gly) c.6815A>G (p.Asp2272Gly) n.8338A>G | |
| 5 | g.13793526T>G | CA359220825 | DNAH5 | c.8213A>C (p.Asp2738Ala) c.8168A>C (p.Asp2723Ala) n.8420A>C c.8321A>C (p.Asp2774Ala) c.7226A>C (p.Asp2409Ala) c.3410A>C (p.Asp1137Ala) c.2963A>C (p.Asp988Ala) c.2300A>C (p.Asp767Ala) c.6815A>C (p.Asp2272Ala) n.8338A>C | |
| 5 | g.13793527C>A | CA359220828 | DNAH5 | c.8212G>T (p.Asp2738Tyr) c.8167G>T (p.Asp2723Tyr) n.8419G>T c.8320G>T (p.Asp2774Tyr) c.7225G>T (p.Asp2409Tyr) c.3409G>T (p.Asp1137Tyr) c.2962G>T (p.Asp988Tyr) c.2299G>T (p.Asp767Tyr) c.6814G>T (p.Asp2272Tyr) n.8337G>T | |
| 5 | g.13793527C>G | CA359220832 | DNAH5 | c.8212G>C (p.Asp2738His) c.8167G>C (p.Asp2723His) n.8419G>C c.8320G>C (p.Asp2774His) c.7225G>C (p.Asp2409His) c.3409G>C (p.Asp1137His) c.2962G>C (p.Asp988His) c.2299G>C (p.Asp767His) c.6814G>C (p.Asp2272His) n.8337G>C | |
| 5 | g.13793527C>T | CA359220837 | DNAH5 | c.8212G>A (p.Asp2738Asn) c.8167G>A (p.Asp2723Asn) n.8419G>A c.8320G>A (p.Asp2774Asn) c.7225G>A (p.Asp2409Asn) c.3409G>A (p.Asp1137Asn) c.2962G>A (p.Asp988Asn) c.2299G>A (p.Asp767Asn) c.6814G>A (p.Asp2272Asn) n.8337G>A | |
| 5 | g.13793528C>A | CA443265648 | DNAH5 | c.8211G>T (p.Val2737=) c.8166G>T (p.Val2722=) n.8418G>T c.8319G>T (p.Val2773=) c.7224G>T (p.Val2408=) c.3408G>T (p.Val1136=) c.2961G>T (p.Val987=) c.2298G>T (p.Val766=) c.6813G>T (p.Val2271=) n.8336G>T | |
| 5 | g.13793528C>G | CA443265651 | DNAH5 | c.8211G>C (p.Val2737=) c.8166G>C (p.Val2722=) n.8418G>C c.8319G>C (p.Val2773=) c.7224G>C (p.Val2408=) c.3408G>C (p.Val1136=) c.2961G>C (p.Val987=) c.2298G>C (p.Val766=) c.6813G>C (p.Val2271=) n.8336G>C | |
| 5 | g.13793528C>T | CA443265653 | DNAH5 | c.8211G>A (p.Val2737=) c.8166G>A (p.Val2722=) n.8418G>A c.8319G>A (p.Val2773=) c.7224G>A (p.Val2408=) c.3408G>A (p.Val1136=) c.2961G>A (p.Val987=) c.2298G>A (p.Val766=) c.6813G>A (p.Val2271=) n.8336G>A | |
| 5 | g.13793529A>C | CA359220858 | DNAH5 | c.8210T>G (p.Val2737Gly) c.8165T>G (p.Val2722Gly) n.8417T>G c.8318T>G (p.Val2773Gly) c.7223T>G (p.Val2408Gly) c.3407T>G (p.Val1136Gly) c.2960T>G (p.Val987Gly) c.2297T>G (p.Val766Gly) c.6812T>G (p.Val2271Gly) n.8335T>G | |
| 5 | g.13793529A>G | CA359220862 | DNAH5 | c.8210T>C (p.Val2737Ala) c.8165T>C (p.Val2722Ala) n.8417T>C c.8318T>C (p.Val2773Ala) c.7223T>C (p.Val2408Ala) c.3407T>C (p.Val1136Ala) c.2960T>C (p.Val987Ala) c.2297T>C (p.Val766Ala) c.6812T>C (p.Val2271Ala) n.8335T>C | |
| 5 | g.13793529A>T | CA359220864 | DNAH5 | c.8210T>A (p.Val2737Glu) c.8165T>A (p.Val2722Glu) n.8417T>A c.8318T>A (p.Val2773Glu) c.7223T>A (p.Val2408Glu) c.3407T>A (p.Val1136Glu) c.2960T>A (p.Val987Glu) c.2297T>A (p.Val766Glu) c.6812T>A (p.Val2271Glu) n.8335T>A | |
| 5 | g.13793530C>A | CA359220867 | DNAH5 | c.8209G>T (p.Val2737Leu) c.8164G>T (p.Val2722Leu) n.8416G>T c.8317G>T (p.Val2773Leu) c.7222G>T (p.Val2408Leu) c.3406G>T (p.Val1136Leu) c.2959G>T (p.Val987Leu) c.2296G>T (p.Val766Leu) c.6811G>T (p.Val2271Leu) n.8334G>T | |
| 5 | g.13793530C>G | CA359220870 | DNAH5 | c.8209G>C (p.Val2737Leu) c.8164G>C (p.Val2722Leu) n.8416G>C c.8317G>C (p.Val2773Leu) c.7222G>C (p.Val2408Leu) c.3406G>C (p.Val1136Leu) c.2959G>C (p.Val987Leu) c.2296G>C (p.Val766Leu) c.6811G>C (p.Val2271Leu) n.8334G>C | |
| 5 | g.13793530C>T | CA359220875 | DNAH5 | c.8209G>A (p.Val2737Met) c.8164G>A (p.Val2722Met) n.8416G>A c.8317G>A (p.Val2773Met) c.7222G>A (p.Val2408Met) c.3406G>A (p.Val1136Met) c.2959G>A (p.Val987Met) c.2296G>A (p.Val766Met) c.6811G>A (p.Val2271Met) n.8334G>A | |
| 5 | g.13793531A>C | CA443265665 | DNAH5 | c.8208T>G (p.Ser2736=) c.8163T>G (p.Ser2721=) n.8415T>G c.8316T>G (p.Ser2772=) c.7221T>G (p.Ser2407=) c.3405T>G (p.Ser1135=) c.2958T>G (p.Ser986=) c.2295T>G (p.Ser765=) c.6810T>G (p.Ser2270=) n.8333T>G | |
| 5 | g.13793531A>G | CA443265670 | DNAH5 | c.8208T>C (p.Ser2736=) c.8163T>C (p.Ser2721=) n.8415T>C c.8316T>C (p.Ser2772=) c.7221T>C (p.Ser2407=) c.3405T>C (p.Ser1135=) c.2958T>C (p.Ser986=) c.2295T>C (p.Ser765=) c.6810T>C (p.Ser2270=) n.8333T>C | |
| 5 | g.13793531A>T | CA443265667 | DNAH5 | c.8208T>A (p.Ser2736=) c.8163T>A (p.Ser2721=) n.8415T>A c.8316T>A (p.Ser2772=) c.7221T>A (p.Ser2407=) c.3405T>A (p.Ser1135=) c.2958T>A (p.Ser986=) c.2295T>A (p.Ser765=) c.6810T>A (p.Ser2270=) n.8333T>A | |
| 5 | g.13793532G>A | CA359220877 | DNAH5 | c.8207C>T (p.Ser2736Phe) c.8162C>T (p.Ser2721Phe) n.8414C>T c.8315C>T (p.Ser2772Phe) c.7220C>T (p.Ser2407Phe) c.3404C>T (p.Ser1135Phe) c.2957C>T (p.Ser986Phe) c.2294C>T (p.Ser765Phe) c.6809C>T (p.Ser2270Phe) n.8332C>T | dbSNP gnomAD v4 COSMIC |
| 5 | g.13793532G>C | CA359220889 | DNAH5 | c.8207C>G (p.Ser2736Cys) c.8162C>G (p.Ser2721Cys) n.8414C>G c.8315C>G (p.Ser2772Cys) c.7220C>G (p.Ser2407Cys) c.3404C>G (p.Ser1135Cys) c.2957C>G (p.Ser986Cys) c.2294C>G (p.Ser765Cys) c.6809C>G (p.Ser2270Cys) n.8332C>G | |
| 5 | g.13793532G= | CA1528441626 | DNAH5 | c.8207C= (p.Ser2736=) c.8162C= (p.Ser2721=) n.8414C= c.8315C= (p.Ser2772=) c.7220C= (p.Ser2407=) c.3404C= (p.Ser1135=) c.2957C= (p.Ser986=) c.2294C= (p.Ser765=) c.6809C= (p.Ser2270=) n.8332C= | |
| 5 | g.13793532G>T | CA359220879 | DNAH5 | c.8207C>A (p.Ser2736Tyr) c.8162C>A (p.Ser2721Tyr) n.8414C>A c.8315C>A (p.Ser2772Tyr) c.7220C>A (p.Ser2407Tyr) c.3404C>A (p.Ser1135Tyr) c.2957C>A (p.Ser986Tyr) c.2294C>A (p.Ser765Tyr) c.6809C>A (p.Ser2270Tyr) n.8332C>A | |
| 5 | g.13793533A>C | CA359220893 | DNAH5 | c.8206T>G (p.Ser2736Ala) c.8161T>G (p.Ser2721Ala) n.8413T>G c.8314T>G (p.Ser2772Ala) c.7219T>G (p.Ser2407Ala) c.3403T>G (p.Ser1135Ala) c.2956T>G (p.Ser986Ala) c.2293T>G (p.Ser765Ala) c.6808T>G (p.Ser2270Ala) n.8331T>G | |
| 5 | g.13793533A>G | CA359220895 | DNAH5 | c.8206T>C (p.Ser2736Pro) c.8161T>C (p.Ser2721Pro) n.8413T>C c.8314T>C (p.Ser2772Pro) c.7219T>C (p.Ser2407Pro) c.3403T>C (p.Ser1135Pro) c.2956T>C (p.Ser986Pro) c.2293T>C (p.Ser765Pro) c.6808T>C (p.Ser2270Pro) n.8331T>C | |
| 5 | g.13793533A>T | CA359220896 | DNAH5 | c.8206T>A (p.Ser2736Thr) c.8161T>A (p.Ser2721Thr) n.8413T>A c.8314T>A (p.Ser2772Thr) c.7219T>A (p.Ser2407Thr) c.3403T>A (p.Ser1135Thr) c.2956T>A (p.Ser986Thr) c.2293T>A (p.Ser765Thr) c.6808T>A (p.Ser2270Thr) n.8331T>A | |
| 5 | g.13793534A>C | CA443265683 | DNAH5 | c.8205T>G (p.Ala2735=) c.8160T>G (p.Ala2720=) n.8412T>G c.8313T>G (p.Ala2771=) c.7218T>G (p.Ala2406=) c.3402T>G (p.Ala1134=) c.2955T>G (p.Ala985=) c.2292T>G (p.Ala764=) c.6807T>G (p.Ala2269=) n.8330T>G | |
| 5 | g.13793534A>G | CA443265685 | DNAH5 | c.8205T>C (p.Ala2735=) c.8160T>C (p.Ala2720=) n.8412T>C c.8313T>C (p.Ala2771=) c.7218T>C (p.Ala2406=) c.3402T>C (p.Ala1134=) c.2955T>C (p.Ala985=) c.2292T>C (p.Ala764=) c.6807T>C (p.Ala2269=) n.8330T>C | |
| 5 | g.13793534A>T | CA443265688 | DNAH5 | c.8205T>A (p.Ala2735=) c.8160T>A (p.Ala2720=) n.8412T>A c.8313T>A (p.Ala2771=) c.7218T>A (p.Ala2406=) c.3402T>A (p.Ala1134=) c.2955T>A (p.Ala985=) c.2292T>A (p.Ala764=) c.6807T>A (p.Ala2269=) n.8330T>A | |
| 5 | g.13793535G>A | CA359220898 | DNAH5 | c.8204C>T (p.Ala2735Val) c.8159C>T (p.Ala2720Val) n.8411C>T c.8312C>T (p.Ala2771Val) c.7217C>T (p.Ala2406Val) c.3401C>T (p.Ala1134Val) c.2954C>T (p.Ala985Val) c.2291C>T (p.Ala764Val) c.6806C>T (p.Ala2269Val) n.8329C>T | |
| 5 | g.13793535G>C | CA359220900 | DNAH5 | c.8204C>G (p.Ala2735Gly) c.8159C>G (p.Ala2720Gly) n.8411C>G c.8312C>G (p.Ala2771Gly) c.7217C>G (p.Ala2406Gly) c.3401C>G (p.Ala1134Gly) c.2954C>G (p.Ala985Gly) c.2291C>G (p.Ala764Gly) c.6806C>G (p.Ala2269Gly) n.8329C>G | |
| 5 | g.13793535G>T | CA359220902 | DNAH5 | c.8204C>A (p.Ala2735Asp) c.8159C>A (p.Ala2720Asp) n.8411C>A c.8312C>A (p.Ala2771Asp) c.7217C>A (p.Ala2406Asp) c.3401C>A (p.Ala1134Asp) c.2954C>A (p.Ala985Asp) c.2291C>A (p.Ala764Asp) c.6806C>A (p.Ala2269Asp) n.8329C>A | |
| 5 | g.13793536C>A | CA359220905 | DNAH5 | c.8203G>T (p.Ala2735Ser) c.8158G>T (p.Ala2720Ser) n.8410G>T c.8311G>T (p.Ala2771Ser) c.7216G>T (p.Ala2406Ser) c.3400G>T (p.Ala1134Ser) c.2953G>T (p.Ala985Ser) c.2290G>T (p.Ala764Ser) c.6805G>T (p.Ala2269Ser) n.8328G>T | |
| 5 | g.13793536C= | CA1528441627 | DNAH5 | c.8203G= (p.Ala2735=) c.8158G= (p.Ala2720=) n.8410G= c.8311G= (p.Ala2771=) c.7216G= (p.Ala2406=) c.3400G= (p.Ala1134=) c.2953G= (p.Ala985=) c.2290G= (p.Ala764=) c.6805G= (p.Ala2269=) n.8328G= | |
| 5 | g.13793536C>G | CA359220908 | DNAH5 | c.8203G>C (p.Ala2735Pro) c.8158G>C (p.Ala2720Pro) n.8410G>C c.8311G>C (p.Ala2771Pro) c.7216G>C (p.Ala2406Pro) c.3400G>C (p.Ala1134Pro) c.2953G>C (p.Ala985Pro) c.2290G>C (p.Ala764Pro) c.6805G>C (p.Ala2269Pro) n.8328G>C | |
| 5 | g.13793536C>T | CA359220911 | DNAH5 | c.8203G>A (p.Ala2735Thr) c.8158G>A (p.Ala2720Thr) n.8410G>A c.8311G>A (p.Ala2771Thr) c.7216G>A (p.Ala2406Thr) c.3400G>A (p.Ala1134Thr) c.2953G>A (p.Ala985Thr) c.2290G>A (p.Ala764Thr) c.6805G>A (p.Ala2269Thr) n.8328G>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13793537T>A | CA359220917 | DNAH5 | c.8202A>T (p.Glu2734Asp) c.8157A>T (p.Glu2719Asp) n.8409A>T c.8310A>T (p.Glu2770Asp) c.7215A>T (p.Glu2405Asp) c.3399A>T (p.Glu1133Asp) c.2952A>T (p.Glu984Asp) c.2289A>T (p.Glu763Asp) c.6804A>T (p.Glu2268Asp) n.8327A>T | |
| 5 | g.13793537T>C | CA443265702 | DNAH5 | c.8202A>G (p.Glu2734=) c.8157A>G (p.Glu2719=) n.8409A>G c.8310A>G (p.Glu2770=) c.7215A>G (p.Glu2405=) c.3399A>G (p.Glu1133=) c.2952A>G (p.Glu984=) c.2289A>G (p.Glu763=) c.6804A>G (p.Glu2268=) n.8327A>G | |
| 5 | g.13793537T>G | CA359220921 | DNAH5 | c.8202A>C (p.Glu2734Asp) c.8157A>C (p.Glu2719Asp) n.8409A>C c.8310A>C (p.Glu2770Asp) c.7215A>C (p.Glu2405Asp) c.3399A>C (p.Glu1133Asp) c.2952A>C (p.Glu984Asp) c.2289A>C (p.Glu763Asp) c.6804A>C (p.Glu2268Asp) n.8327A>C | |
| 5 | g.13793538T>A | CA359220924 | DNAH5 | c.8201A>T (p.Glu2734Val) c.8156A>T (p.Glu2719Val) n.8408A>T c.8309A>T (p.Glu2770Val) c.7214A>T (p.Glu2405Val) c.3398A>T (p.Glu1133Val) c.2951A>T (p.Glu984Val) c.2288A>T (p.Glu763Val) c.6803A>T (p.Glu2268Val) n.8326A>T | |
| 5 | g.13793538T>C | CA359220925 | DNAH5 | c.8201A>G (p.Glu2734Gly) c.8156A>G (p.Glu2719Gly) n.8408A>G c.8309A>G (p.Glu2770Gly) c.7214A>G (p.Glu2405Gly) c.3398A>G (p.Glu1133Gly) c.2951A>G (p.Glu984Gly) c.2288A>G (p.Glu763Gly) c.6803A>G (p.Glu2268Gly) n.8326A>G | |
| 5 | g.13793538T>G | CA359220930 | DNAH5 | c.8201A>C (p.Glu2734Ala) c.8156A>C (p.Glu2719Ala) n.8408A>C c.8309A>C (p.Glu2770Ala) c.7214A>C (p.Glu2405Ala) c.3398A>C (p.Glu1133Ala) c.2951A>C (p.Glu984Ala) c.2288A>C (p.Glu763Ala) c.6803A>C (p.Glu2268Ala) n.8326A>C | |
| 5 | g.13793539C>A | CA359220937 | DNAH5 | c.8200G>T (p.Glu2734Ter) c.8155G>T (p.Glu2719Ter) n.8407G>T c.8308G>T (p.Glu2770Ter) c.7213G>T (p.Glu2405Ter) c.3397G>T (p.Glu1133Ter) c.2950G>T (p.Glu984Ter) c.2287G>T (p.Glu763Ter) c.6802G>T (p.Glu2268Ter) n.8325G>T | |
| 5 | g.13793539C>G | CA359220942 | DNAH5 | c.8200G>C (p.Glu2734Gln) c.8155G>C (p.Glu2719Gln) n.8407G>C c.8308G>C (p.Glu2770Gln) c.7213G>C (p.Glu2405Gln) c.3397G>C (p.Glu1133Gln) c.2950G>C (p.Glu984Gln) c.2287G>C (p.Glu763Gln) c.6802G>C (p.Glu2268Gln) n.8325G>C | |
| 5 | g.13793539C>T | CA359220946 | DNAH5 | c.8200G>A (p.Glu2734Lys) c.8155G>A (p.Glu2719Lys) n.8407G>A c.8308G>A (p.Glu2770Lys) c.7213G>A (p.Glu2405Lys) c.3397G>A (p.Glu1133Lys) c.2950G>A (p.Glu984Lys) c.2287G>A (p.Glu763Lys) c.6802G>A (p.Glu2268Lys) n.8325G>A | |
| 5 | g.13793540A>C | CA443265718 | DNAH5 | c.8199T>G (p.Ser2733=) c.8154T>G (p.Ser2718=) n.8406T>G c.8307T>G (p.Ser2769=) c.7212T>G (p.Ser2404=) c.3396T>G (p.Ser1132=) c.2949T>G (p.Ser983=) c.2286T>G (p.Ser762=) c.6801T>G (p.Ser2267=) n.8324T>G | |
| 5 | g.13793540A>G | CA443265721 | DNAH5 | c.8199T>C (p.Ser2733=) c.8154T>C (p.Ser2718=) n.8406T>C c.8307T>C (p.Ser2769=) c.7212T>C (p.Ser2404=) c.3396T>C (p.Ser1132=) c.2949T>C (p.Ser983=) c.2286T>C (p.Ser762=) c.6801T>C (p.Ser2267=) n.8324T>C | |
| 5 | g.13793540A>T | CA443265723 | DNAH5 | c.8199T>A (p.Ser2733=) c.8154T>A (p.Ser2718=) n.8406T>A c.8307T>A (p.Ser2769=) c.7212T>A (p.Ser2404=) c.3396T>A (p.Ser1132=) c.2949T>A (p.Ser983=) c.2286T>A (p.Ser762=) c.6801T>A (p.Ser2267=) n.8324T>A | |
| 5 | g.13793541G>A | CA359220947 | DNAH5 | c.8198C>T (p.Ser2733Phe) c.8153C>T (p.Ser2718Phe) n.8405C>T c.8306C>T (p.Ser2769Phe) c.7211C>T (p.Ser2404Phe) c.3395C>T (p.Ser1132Phe) c.2948C>T (p.Ser983Phe) c.2285C>T (p.Ser762Phe) c.6800C>T (p.Ser2267Phe) n.8323C>T | |
| 5 | g.13793541G>C | CA359220950 | DNAH5 | c.8198C>G (p.Ser2733Cys) c.8153C>G (p.Ser2718Cys) n.8405C>G c.8306C>G (p.Ser2769Cys) c.7211C>G (p.Ser2404Cys) c.3395C>G (p.Ser1132Cys) c.2948C>G (p.Ser983Cys) c.2285C>G (p.Ser762Cys) c.6800C>G (p.Ser2267Cys) n.8323C>G | |
| 5 | g.13793541G>T | CA359220952 | DNAH5 | c.8198C>A (p.Ser2733Tyr) c.8153C>A (p.Ser2718Tyr) n.8405C>A c.8306C>A (p.Ser2769Tyr) c.7211C>A (p.Ser2404Tyr) c.3395C>A (p.Ser1132Tyr) c.2948C>A (p.Ser983Tyr) c.2285C>A (p.Ser762Tyr) c.6800C>A (p.Ser2267Tyr) n.8323C>A | |
| 5 | g.13793542A= | CA1528441628 | DNAH5 | c.8197T= (p.Ser2733=) c.8152T= (p.Ser2718=) n.8404T= c.8305T= (p.Ser2769=) c.7210T= (p.Ser2404=) c.3394T= (p.Ser1132=) c.2947T= (p.Ser983=) c.2284T= (p.Ser762=) c.6799T= (p.Ser2267=) n.8322T= | |
| 5 | g.13793542A>C | CA359220955 | DNAH5 | c.8197T>G (p.Ser2733Ala) c.8152T>G (p.Ser2718Ala) n.8404T>G c.8305T>G (p.Ser2769Ala) c.7210T>G (p.Ser2404Ala) c.3394T>G (p.Ser1132Ala) c.2947T>G (p.Ser983Ala) c.2284T>G (p.Ser762Ala) c.6799T>G (p.Ser2267Ala) n.8322T>G | gnomAD v4 |
| 5 | g.13793542A>G | CA359220956 | DNAH5 | c.8197T>C (p.Ser2733Pro) c.8152T>C (p.Ser2718Pro) n.8404T>C c.8305T>C (p.Ser2769Pro) c.7210T>C (p.Ser2404Pro) c.3394T>C (p.Ser1132Pro) c.2947T>C (p.Ser983Pro) c.2284T>C (p.Ser762Pro) c.6799T>C (p.Ser2267Pro) n.8322T>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13793542A>T | CA359220958 | DNAH5 | c.8197T>A (p.Ser2733Thr) c.8152T>A (p.Ser2718Thr) n.8404T>A c.8305T>A (p.Ser2769Thr) c.7210T>A (p.Ser2404Thr) c.3394T>A (p.Ser1132Thr) c.2947T>A (p.Ser983Thr) c.2284T>A (p.Ser762Thr) c.6799T>A (p.Ser2267Thr) n.8322T>A | |
| 5 | g.13793543G>A | CA443265738 | DNAH5 | c.8196C>T (p.Pro2732=) c.8151C>T (p.Pro2717=) n.8403C>T c.8304C>T (p.Pro2768=) c.7209C>T (p.Pro2403=) c.3393C>T (p.Pro1131=) c.2946C>T (p.Pro982=) c.2283C>T (p.Pro761=) c.6798C>T (p.Pro2266=) n.8321C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13793543G>C | CA443265740 | DNAH5 | c.8196C>G (p.Pro2732=) c.8151C>G (p.Pro2717=) n.8403C>G c.8304C>G (p.Pro2768=) c.7209C>G (p.Pro2403=) c.3393C>G (p.Pro1131=) c.2946C>G (p.Pro982=) c.2283C>G (p.Pro761=) c.6798C>G (p.Pro2266=) n.8321C>G | |
| 5 | g.13793543G= | CA1528441629 | DNAH5 | c.8196C= (p.Pro2732=) c.8151C= (p.Pro2717=) n.8403C= c.8304C= (p.Pro2768=) c.7209C= (p.Pro2403=) c.3393C= (p.Pro1131=) c.2946C= (p.Pro982=) c.2283C= (p.Pro761=) c.6798C= (p.Pro2266=) n.8321C= | |
| 5 | g.13793543G>T | CA443265742 | DNAH5 | c.8196C>A (p.Pro2732=) c.8151C>A (p.Pro2717=) n.8403C>A c.8304C>A (p.Pro2768=) c.7209C>A (p.Pro2403=) c.3393C>A (p.Pro1131=) c.2946C>A (p.Pro982=) c.2283C>A (p.Pro761=) c.6798C>A (p.Pro2266=) n.8321C>A | |
| 5 | g.13793544G>A | CA359220967 | DNAH5 | c.8195C>T (p.Pro2732Leu) c.8150C>T (p.Pro2717Leu) n.8402C>T c.8303C>T (p.Pro2768Leu) c.7208C>T (p.Pro2403Leu) c.3392C>T (p.Pro1131Leu) c.2945C>T (p.Pro982Leu) c.2282C>T (p.Pro761Leu) c.6797C>T (p.Pro2266Leu) n.8320C>T | gnomAD v4 |
| 5 | g.13793544G>C | CA359220959 | DNAH5 | c.8195C>G (p.Pro2732Arg) c.8150C>G (p.Pro2717Arg) n.8402C>G c.8303C>G (p.Pro2768Arg) c.7208C>G (p.Pro2403Arg) c.3392C>G (p.Pro1131Arg) c.2945C>G (p.Pro982Arg) c.2282C>G (p.Pro761Arg) c.6797C>G (p.Pro2266Arg) n.8320C>G | |
| 5 | g.13793544G>T | CA359220961 | DNAH5 | c.8195C>A (p.Pro2732His) c.8150C>A (p.Pro2717His) n.8402C>A c.8303C>A (p.Pro2768His) c.7208C>A (p.Pro2403His) c.3392C>A (p.Pro1131His) c.2945C>A (p.Pro982His) c.2282C>A (p.Pro761His) c.6797C>A (p.Pro2266His) n.8320C>A | gnomAD v4 |
| 5 | g.13793545G>A | CA359220971 | DNAH5 | c.8194C>T (p.Pro2732Ser) c.8149C>T (p.Pro2717Ser) n.8401C>T c.8302C>T (p.Pro2768Ser) c.7207C>T (p.Pro2403Ser) c.3391C>T (p.Pro1131Ser) c.2944C>T (p.Pro982Ser) c.2281C>T (p.Pro761Ser) c.6796C>T (p.Pro2266Ser) n.8319C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13793545G>C | CA359220983 | DNAH5 | c.8194C>G (p.Pro2732Ala) c.8149C>G (p.Pro2717Ala) n.8401C>G c.8302C>G (p.Pro2768Ala) c.7207C>G (p.Pro2403Ala) c.3391C>G (p.Pro1131Ala) c.2944C>G (p.Pro982Ala) c.2281C>G (p.Pro761Ala) c.6796C>G (p.Pro2266Ala) n.8319C>G | |
| 5 | g.13793545G= | CA1528441630 | DNAH5 | c.8194C= (p.Pro2732=) c.8149C= (p.Pro2717=) n.8401C= c.8302C= (p.Pro2768=) c.7207C= (p.Pro2403=) c.3391C= (p.Pro1131=) c.2944C= (p.Pro982=) c.2281C= (p.Pro761=) c.6796C= (p.Pro2266=) n.8319C= | |
| 5 | g.13793545G>T | CA359220988 | DNAH5 | c.8194C>A (p.Pro2732Thr) c.8149C>A (p.Pro2717Thr) n.8401C>A c.8302C>A (p.Pro2768Thr) c.7207C>A (p.Pro2403Thr) c.3391C>A (p.Pro1131Thr) c.2944C>A (p.Pro982Thr) c.2281C>A (p.Pro761Thr) c.6796C>A (p.Pro2266Thr) n.8319C>A | |
| 5 | g.13793546C>A | CA359220997 | DNAH5 | c.8193G>T (p.Leu2731Phe) c.8148G>T (p.Leu2716Phe) n.8400G>T c.8301G>T (p.Leu2767Phe) c.7206G>T (p.Leu2402Phe) c.3390G>T (p.Leu1130Phe) c.2943G>T (p.Leu981Phe) c.2280G>T (p.Leu760Phe) c.6795G>T (p.Leu2265Phe) n.8318G>T | |
| 5 | g.13793546C= | CA1528441631 | DNAH5 | c.8193G= (p.Leu2731=) c.8148G= (p.Leu2716=) n.8400G= c.8301G= (p.Leu2767=) c.7206G= (p.Leu2402=) c.3390G= (p.Leu1130=) c.2943G= (p.Leu981=) c.2280G= (p.Leu760=) c.6795G= (p.Leu2265=) n.8318G= | |
| 5 | g.13793546C>G | CA3202879 | DNAH5 | c.8193G>C (p.Leu2731Phe) c.8148G>C (p.Leu2716Phe) n.8400G>C c.8301G>C (p.Leu2767Phe) c.7206G>C (p.Leu2402Phe) c.3390G>C (p.Leu1130Phe) c.2943G>C (p.Leu981Phe) c.2280G>C (p.Leu760Phe) c.6795G>C (p.Leu2265Phe) n.8318G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13793546C>T | CA443265762 | DNAH5 | c.8193G>A (p.Leu2731=) c.8148G>A (p.Leu2716=) n.8400G>A c.8301G>A (p.Leu2767=) c.7206G>A (p.Leu2402=) c.3390G>A (p.Leu1130=) c.2943G>A (p.Leu981=) c.2280G>A (p.Leu760=) c.6795G>A (p.Leu2265=) n.8318G>A | gnomAD v4 |
| 5 | g.13793547A>C | CA359221001 | DNAH5 | c.8192T>G (p.Leu2731Trp) c.8147T>G (p.Leu2716Trp) n.8399T>G c.8300T>G (p.Leu2767Trp) c.7205T>G (p.Leu2402Trp) c.3389T>G (p.Leu1130Trp) c.2942T>G (p.Leu981Trp) c.2279T>G (p.Leu760Trp) c.6794T>G (p.Leu2265Trp) n.8317T>G | |
| 5 | g.13793547A>G | CA359221002 | DNAH5 | c.8192T>C (p.Leu2731Ser) c.8147T>C (p.Leu2716Ser) n.8399T>C c.8300T>C (p.Leu2767Ser) c.7205T>C (p.Leu2402Ser) c.3389T>C (p.Leu1130Ser) c.2942T>C (p.Leu981Ser) c.2279T>C (p.Leu760Ser) c.6794T>C (p.Leu2265Ser) n.8317T>C | |
| 5 | g.13793547A>T | CA359221003 | DNAH5 | c.8192T>A (p.Leu2731Ter) c.8147T>A (p.Leu2716Ter) n.8399T>A c.8300T>A (p.Leu2767Ter) c.7205T>A (p.Leu2402Ter) c.3389T>A (p.Leu1130Ter) c.2942T>A (p.Leu981Ter) c.2279T>A (p.Leu760Ter) c.6794T>A (p.Leu2265Ter) n.8317T>A | |
| 5 | g.13793548A>C | CA359221006 | DNAH5 | c.8191T>G (p.Leu2731Val) c.8146T>G (p.Leu2716Val) n.8398T>G c.8299T>G (p.Leu2767Val) c.7204T>G (p.Leu2402Val) c.3388T>G (p.Leu1130Val) c.2941T>G (p.Leu981Val) c.2278T>G (p.Leu760Val) c.6793T>G (p.Leu2265Val) n.8316T>G | |
| 5 | g.13793548A>G | CA443265775 | DNAH5 | c.8191T>C (p.Leu2731=) c.8146T>C (p.Leu2716=) n.8398T>C c.8299T>C (p.Leu2767=) c.7204T>C (p.Leu2402=) c.3388T>C (p.Leu1130=) c.2941T>C (p.Leu981=) c.2278T>C (p.Leu760=) c.6793T>C (p.Leu2265=) n.8316T>C | |
| 5 | g.13793548A>T | CA359221009 | DNAH5 | c.8191T>A (p.Leu2731Met) c.8146T>A (p.Leu2716Met) n.8398T>A c.8299T>A (p.Leu2767Met) c.7204T>A (p.Leu2402Met) c.3388T>A (p.Leu1130Met) c.2941T>A (p.Leu981Met) c.2278T>A (p.Leu760Met) c.6793T>A (p.Leu2265Met) n.8316T>A | gnomAD v4 |
| 5 | g.13793549C>A | CA443265780 | DNAH5 | c.8190G>T (p.Thr2730=) c.8145G>T (p.Thr2715=) n.8397G>T c.8298G>T (p.Thr2766=) c.7203G>T (p.Thr2401=) c.3387G>T (p.Thr1129=) c.2940G>T (p.Thr980=) c.2277G>T (p.Thr759=) c.6792G>T (p.Thr2264=) n.8315G>T | gnomAD v4 |
| 5 | g.13793549C= | CA1528441632 | DNAH5 | c.8190G= (p.Thr2730=) c.8145G= (p.Thr2715=) n.8397G= c.8298G= (p.Thr2766=) c.7203G= (p.Thr2401=) c.3387G= (p.Thr1129=) c.2940G= (p.Thr980=) c.2277G= (p.Thr759=) c.6792G= (p.Thr2264=) n.8315G= | |
| 5 | g.13793549C>G | CA443265782 | DNAH5 | c.8190G>C (p.Thr2730=) c.8145G>C (p.Thr2715=) n.8397G>C c.8298G>C (p.Thr2766=) c.7203G>C (p.Thr2401=) c.3387G>C (p.Thr1129=) c.2940G>C (p.Thr980=) c.2277G>C (p.Thr759=) c.6792G>C (p.Thr2264=) n.8315G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13793549C>T | CA3202880 | DNAH5 | c.8190G>A (p.Thr2730=) c.8145G>A (p.Thr2715=) n.8397G>A c.8298G>A (p.Thr2766=) c.7203G>A (p.Thr2401=) c.3387G>A (p.Thr1129=) c.2940G>A (p.Thr980=) c.2277G>A (p.Thr759=) c.6792G>A (p.Thr2264=) n.8315G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13793550G>A | CA359221020 | DNAH5 | c.8189C>T (p.Thr2730Met) c.8144C>T (p.Thr2715Met) n.8396C>T c.8297C>T (p.Thr2766Met) c.7202C>T (p.Thr2401Met) c.3386C>T (p.Thr1129Met) c.2939C>T (p.Thr980Met) c.2276C>T (p.Thr759Met) c.6791C>T (p.Thr2264Met) n.8314C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13793550G>C | CA359221021 | DNAH5 | c.8189C>G (p.Thr2730Arg) c.8144C>G (p.Thr2715Arg) n.8396C>G c.8297C>G (p.Thr2766Arg) c.7202C>G (p.Thr2401Arg) c.3386C>G (p.Thr1129Arg) c.2939C>G (p.Thr980Arg) c.2276C>G (p.Thr759Arg) c.6791C>G (p.Thr2264Arg) n.8314C>G | |
| 5 | g.13793550G= | CA1528441633 | DNAH5 | c.8189C= (p.Thr2730=) c.8144C= (p.Thr2715=) n.8396C= c.8297C= (p.Thr2766=) c.7202C= (p.Thr2401=) c.3386C= (p.Thr1129=) c.2939C= (p.Thr980=) c.2276C= (p.Thr759=) c.6791C= (p.Thr2264=) n.8314C= | |
| 5 | g.13793550G>T | CA359221017 | DNAH5 | c.8189C>A (p.Thr2730Lys) c.8144C>A (p.Thr2715Lys) n.8396C>A c.8297C>A (p.Thr2766Lys) c.7202C>A (p.Thr2401Lys) c.3386C>A (p.Thr1129Lys) c.2939C>A (p.Thr980Lys) c.2276C>A (p.Thr759Lys) c.6791C>A (p.Thr2264Lys) n.8314C>A | |
| 5 | g.13793551T>A | CA359221024 | DNAH5 | c.8188A>T (p.Thr2730Ser) c.8143A>T (p.Thr2715Ser) n.8395A>T c.8296A>T (p.Thr2766Ser) c.7201A>T (p.Thr2401Ser) c.3385A>T (p.Thr1129Ser) c.2938A>T (p.Thr980Ser) c.2275A>T (p.Thr759Ser) c.6790A>T (p.Thr2264Ser) n.8313A>T | dbSNP COSMIC |
| 5 | g.13793551T>C | CA359221037 | DNAH5 | c.8188A>G (p.Thr2730Ala) c.8143A>G (p.Thr2715Ala) n.8395A>G c.8296A>G (p.Thr2766Ala) c.7201A>G (p.Thr2401Ala) c.3385A>G (p.Thr1129Ala) c.2938A>G (p.Thr980Ala) c.2275A>G (p.Thr759Ala) c.6790A>G (p.Thr2264Ala) n.8313A>G | |
| 5 | g.13793551T>G | CA359221039 | DNAH5 | c.8188A>C (p.Thr2730Pro) c.8143A>C (p.Thr2715Pro) n.8395A>C c.8296A>C (p.Thr2766Pro) c.7201A>C (p.Thr2401Pro) c.3385A>C (p.Thr1129Pro) c.2938A>C (p.Thr980Pro) c.2275A>C (p.Thr759Pro) c.6790A>C (p.Thr2264Pro) n.8313A>C | |
| 5 | g.13793551T= | CA1528441634 | DNAH5 | c.8188A= (p.Thr2730=) c.8143A= (p.Thr2715=) n.8395A= c.8296A= (p.Thr2766=) c.7201A= (p.Thr2401=) c.3385A= (p.Thr1129=) c.2938A= (p.Thr980=) c.2275A= (p.Thr759=) c.6790A= (p.Thr2264=) n.8313A= | |
| 5 | g.13793552G>A | CA113961717 | DNAH5 | c.8187C>T (p.Cys2729=) c.8142C>T (p.Cys2714=) n.8394C>T c.8295C>T (p.Cys2765=) c.7200C>T (p.Cys2400=) c.3384C>T (p.Cys1128=) c.2937C>T (p.Cys979=) c.2274C>T (p.Cys758=) c.6789C>T (p.Cys2263=) n.8312C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13793552G>C | CA359221042 | DNAH5 | c.8187C>G (p.Cys2729Trp) c.8142C>G (p.Cys2714Trp) n.8394C>G c.8295C>G (p.Cys2765Trp) c.7200C>G (p.Cys2400Trp) c.3384C>G (p.Cys1128Trp) c.2937C>G (p.Cys979Trp) c.2274C>G (p.Cys758Trp) c.6789C>G (p.Cys2263Trp) n.8312C>G | gnomAD v4 |
| 5 | g.13793552G= | CA1528441635 | DNAH5 | c.8187C= (p.Cys2729=) c.8142C= (p.Cys2714=) n.8394C= c.8295C= (p.Cys2765=) c.7200C= (p.Cys2400=) c.3384C= (p.Cys1128=) c.2937C= (p.Cys979=) c.2274C= (p.Cys758=) c.6789C= (p.Cys2263=) n.8312C= | |
| 5 | g.13793552G>T | CA359221045 | DNAH5 | c.8187C>A (p.Cys2729Ter) c.8142C>A (p.Cys2714Ter) n.8394C>A c.8295C>A (p.Cys2765Ter) c.7200C>A (p.Cys2400Ter) c.3384C>A (p.Cys1128Ter) c.2937C>A (p.Cys979Ter) c.2274C>A (p.Cys758Ter) c.6789C>A (p.Cys2263Ter) n.8312C>A | |
| 5 | g.13793553C>A | CA359221054 | DNAH5 | c.8186G>T (p.Cys2729Phe) c.8141G>T (p.Cys2714Phe) n.8393G>T c.8294G>T (p.Cys2765Phe) c.7199G>T (p.Cys2400Phe) c.3383G>T (p.Cys1128Phe) c.2936G>T (p.Cys979Phe) c.2273G>T (p.Cys758Phe) c.6788G>T (p.Cys2263Phe) n.8311G>T | dbSNP gnomAD v4 |
| 5 | g.13793553C= | CA1528441636 | DNAH5 | c.8186G= (p.Cys2729=) c.8141G= (p.Cys2714=) n.8393G= c.8294G= (p.Cys2765=) c.7199G= (p.Cys2400=) c.3383G= (p.Cys1128=) c.2936G= (p.Cys979=) c.2273G= (p.Cys758=) c.6788G= (p.Cys2263=) n.8311G= | |
| 5 | g.13793553C>G | CA359221048 | DNAH5 | c.8186G>C (p.Cys2729Ser) c.8141G>C (p.Cys2714Ser) n.8393G>C c.8294G>C (p.Cys2765Ser) c.7199G>C (p.Cys2400Ser) c.3383G>C (p.Cys1128Ser) c.2936G>C (p.Cys979Ser) c.2273G>C (p.Cys758Ser) c.6788G>C (p.Cys2263Ser) n.8311G>C | |
| 5 | g.13793553C>T | CA359221052 | DNAH5 | c.8186G>A (p.Cys2729Tyr) c.8141G>A (p.Cys2714Tyr) n.8393G>A c.8294G>A (p.Cys2765Tyr) c.7199G>A (p.Cys2400Tyr) c.3383G>A (p.Cys1128Tyr) c.2936G>A (p.Cys979Tyr) c.2273G>A (p.Cys758Tyr) c.6788G>A (p.Cys2263Tyr) n.8311G>A | |
| 5 | g.13793554A>C | CA359221056 | DNAH5 | c.8185T>G (p.Cys2729Gly) c.8140T>G (p.Cys2714Gly) n.8392T>G c.8293T>G (p.Cys2765Gly) c.7198T>G (p.Cys2400Gly) c.3382T>G (p.Cys1128Gly) c.2935T>G (p.Cys979Gly) c.2272T>G (p.Cys758Gly) c.6787T>G (p.Cys2263Gly) n.8310T>G | gnomAD v4 |
| 5 | g.13793554A>G | CA359221059 | DNAH5 | c.8185T>C (p.Cys2729Arg) c.8140T>C (p.Cys2714Arg) n.8392T>C c.8293T>C (p.Cys2765Arg) c.7198T>C (p.Cys2400Arg) c.3382T>C (p.Cys1128Arg) c.2935T>C (p.Cys979Arg) c.2272T>C (p.Cys758Arg) c.6787T>C (p.Cys2263Arg) n.8310T>C | gnomAD v4 |
| 5 | g.13793554A>T | CA359221062 | DNAH5 | c.8185T>A (p.Cys2729Ser) c.8140T>A (p.Cys2714Ser) n.8392T>A c.8293T>A (p.Cys2765Ser) c.7198T>A (p.Cys2400Ser) c.3382T>A (p.Cys1128Ser) c.2935T>A (p.Cys979Ser) c.2272T>A (p.Cys758Ser) c.6787T>A (p.Cys2263Ser) n.8310T>A | |
| 5 | g.13793555A= | CA1528441637 | DNAH5 | c.8184T= (p.Asn2728=) c.8139T= (p.Asn2713=) n.8391T= c.8292T= (p.Asn2764=) c.7197T= (p.Asn2399=) c.3381T= (p.Asn1127=) c.2934T= (p.Asn978=) c.2271T= (p.Asn757=) c.6786T= (p.Asn2262=) n.8309T= | |
| 5 | g.13793555A>C | CA359221063 | DNAH5 | c.8184T>G (p.Asn2728Lys) c.8139T>G (p.Asn2713Lys) n.8391T>G c.8292T>G (p.Asn2764Lys) c.7197T>G (p.Asn2399Lys) c.3381T>G (p.Asn1127Lys) c.2934T>G (p.Asn978Lys) c.2271T>G (p.Asn757Lys) c.6786T>G (p.Asn2262Lys) n.8309T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13793555A>G | CA443265811 | DNAH5 | c.8184T>C (p.Asn2728=) c.8139T>C (p.Asn2713=) n.8391T>C c.8292T>C (p.Asn2764=) c.7197T>C (p.Asn2399=) c.3381T>C (p.Asn1127=) c.2934T>C (p.Asn978=) c.2271T>C (p.Asn757=) c.6786T>C (p.Asn2262=) n.8309T>C | |
| 5 | g.13793555A>T | CA359221064 | DNAH5 | c.8184T>A (p.Asn2728Lys) c.8139T>A (p.Asn2713Lys) n.8391T>A c.8292T>A (p.Asn2764Lys) c.7197T>A (p.Asn2399Lys) c.3381T>A (p.Asn1127Lys) c.2934T>A (p.Asn978Lys) c.2271T>A (p.Asn757Lys) c.6786T>A (p.Asn2262Lys) n.8309T>A | |
| 5 | g.13793556T>A | CA359221065 | DNAH5 | c.8183A>T (p.Asn2728Ile) c.8138A>T (p.Asn2713Ile) n.8390A>T c.8291A>T (p.Asn2764Ile) c.7196A>T (p.Asn2399Ile) c.3380A>T (p.Asn1127Ile) c.2933A>T (p.Asn978Ile) c.2270A>T (p.Asn757Ile) c.6785A>T (p.Asn2262Ile) n.8308A>T | |
| 5 | g.13793556T>C | CA359221070 | DNAH5 | c.8183A>G (p.Asn2728Ser) c.8138A>G (p.Asn2713Ser) n.8390A>G c.8291A>G (p.Asn2764Ser) c.7196A>G (p.Asn2399Ser) c.3380A>G (p.Asn1127Ser) c.2933A>G (p.Asn978Ser) c.2270A>G (p.Asn757Ser) c.6785A>G (p.Asn2262Ser) n.8308A>G | |
| 5 | g.13793556T>G | CA359221068 | DNAH5 | c.8183A>C (p.Asn2728Thr) c.8138A>C (p.Asn2713Thr) n.8390A>C c.8291A>C (p.Asn2764Thr) c.7196A>C (p.Asn2399Thr) c.3380A>C (p.Asn1127Thr) c.2933A>C (p.Asn978Thr) c.2270A>C (p.Asn757Thr) c.6785A>C (p.Asn2262Thr) n.8308A>C | |
| 5 | g.13793557T>A | CA359221082 | DNAH5 | c.8182A>T (p.Asn2728Tyr) c.8137A>T (p.Asn2713Tyr) n.8389A>T c.8290A>T (p.Asn2764Tyr) c.7195A>T (p.Asn2399Tyr) c.3379A>T (p.Asn1127Tyr) c.2932A>T (p.Asn978Tyr) c.2269A>T (p.Asn757Tyr) c.6784A>T (p.Asn2262Tyr) n.8307A>T | |
| 5 | g.13793557T>C | CA359221113 | DNAH5 | c.8182A>G (p.Asn2728Asp) c.8137A>G (p.Asn2713Asp) n.8389A>G c.8290A>G (p.Asn2764Asp) c.7195A>G (p.Asn2399Asp) c.3379A>G (p.Asn1127Asp) c.2932A>G (p.Asn978Asp) c.2269A>G (p.Asn757Asp) c.6784A>G (p.Asn2262Asp) n.8307A>G | |
| 5 | g.13793557T>G | CA359221119 | DNAH5 | c.8182A>C (p.Asn2728His) c.8137A>C (p.Asn2713His) n.8389A>C c.8290A>C (p.Asn2764His) c.7195A>C (p.Asn2399His) c.3379A>C (p.Asn1127His) c.2932A>C (p.Asn978His) c.2269A>C (p.Asn757His) c.6784A>C (p.Asn2262His) n.8307A>C | |
| 5 | g.13793558A>C | CA359221122 | DNAH5 | c.8181T>G (p.Phe2727Leu) c.8136T>G (p.Phe2712Leu) n.8388T>G c.8289T>G (p.Phe2763Leu) c.7194T>G (p.Phe2398Leu) c.3378T>G (p.Phe1126Leu) c.2931T>G (p.Phe977Leu) c.2268T>G (p.Phe756Leu) c.6783T>G (p.Phe2261Leu) n.8306T>G | |
| 5 | g.13793558A>G | CA443265831 | DNAH5 | c.8181T>C (p.Phe2727=) c.8136T>C (p.Phe2712=) n.8388T>C c.8289T>C (p.Phe2763=) c.7194T>C (p.Phe2398=) c.3378T>C (p.Phe1126=) c.2931T>C (p.Phe977=) c.2268T>C (p.Phe756=) c.6783T>C (p.Phe2261=) n.8306T>C | ClinVar gnomAD v4 |
| 5 | g.13793558A>T | CA359221123 | DNAH5 | c.8181T>A (p.Phe2727Leu) c.8136T>A (p.Phe2712Leu) n.8388T>A c.8289T>A (p.Phe2763Leu) c.7194T>A (p.Phe2398Leu) c.3378T>A (p.Phe1126Leu) c.2931T>A (p.Phe977Leu) c.2268T>A (p.Phe756Leu) c.6783T>A (p.Phe2261Leu) n.8306T>A | |
| 5 | g.13793559A= | CA1528441638 | DNAH5 | c.8180T= (p.Phe2727=) c.8135T= (p.Phe2712=) n.8387T= c.8288T= (p.Phe2763=) c.7193T= (p.Phe2398=) c.3377T= (p.Phe1126=) c.2930T= (p.Phe977=) c.2267T= (p.Phe756=) c.6782T= (p.Phe2261=) n.8305T= | |
| 5 | g.13793559A>C | CA359221126 | DNAH5 | c.8180T>G (p.Phe2727Cys) c.8135T>G (p.Phe2712Cys) n.8387T>G c.8288T>G (p.Phe2763Cys) c.7193T>G (p.Phe2398Cys) c.3377T>G (p.Phe1126Cys) c.2930T>G (p.Phe977Cys) c.2267T>G (p.Phe756Cys) c.6782T>G (p.Phe2261Cys) n.8305T>G | dbSNP |
| 5 | g.13793559A>G | CA359221128 | DNAH5 | c.8180T>C (p.Phe2727Ser) c.8135T>C (p.Phe2712Ser) n.8387T>C c.8288T>C (p.Phe2763Ser) c.7193T>C (p.Phe2398Ser) c.3377T>C (p.Phe1126Ser) c.2930T>C (p.Phe977Ser) c.2267T>C (p.Phe756Ser) c.6782T>C (p.Phe2261Ser) n.8305T>C | |
| 5 | g.13793559A>T | CA359221130 | DNAH5 | c.8180T>A (p.Phe2727Tyr) c.8135T>A (p.Phe2712Tyr) n.8387T>A c.8288T>A (p.Phe2763Tyr) c.7193T>A (p.Phe2398Tyr) c.3377T>A (p.Phe1126Tyr) c.2930T>A (p.Phe977Tyr) c.2267T>A (p.Phe756Tyr) c.6782T>A (p.Phe2261Tyr) n.8305T>A | |
| 5 | g.13793560A>C | CA359221131 | DNAH5 | c.8179T>G (p.Phe2727Val) c.8134T>G (p.Phe2712Val) n.8386T>G c.8287T>G (p.Phe2763Val) c.7192T>G (p.Phe2398Val) c.3376T>G (p.Phe1126Val) c.2929T>G (p.Phe977Val) c.2266T>G (p.Phe756Val) c.6781T>G (p.Phe2261Val) n.8304T>G | |
| 5 | g.13793560A>G | CA359221134 | DNAH5 | c.8179T>C (p.Phe2727Leu) c.8134T>C (p.Phe2712Leu) n.8386T>C c.8287T>C (p.Phe2763Leu) c.7192T>C (p.Phe2398Leu) c.3376T>C (p.Phe1126Leu) c.2929T>C (p.Phe977Leu) c.2266T>C (p.Phe756Leu) c.6781T>C (p.Phe2261Leu) n.8304T>C | gnomAD v4 |
| 5 | g.13793560A>T | CA359221136 | DNAH5 | c.8179T>A (p.Phe2727Ile) c.8134T>A (p.Phe2712Ile) n.8386T>A c.8287T>A (p.Phe2763Ile) c.7192T>A (p.Phe2398Ile) c.3376T>A (p.Phe1126Ile) c.2929T>A (p.Phe977Ile) c.2266T>A (p.Phe756Ile) c.6781T>A (p.Phe2261Ile) n.8304T>A | |
| 5 | g.13793563_13793564del | CA645541022 | DNAH5 | c.8178_8179del (p.Phe2727Ter) c.8133_8134del (p.Phe2712Ter) n.8385_8386del c.8286_8287del (p.Phe2763Ter) c.7191_7192del (p.Phe2398Ter) c.3375_3376del (p.Phe1126Ter) c.2928_2929del (p.Phe977Ter) c.2265_2266del (p.Phe756Ter) c.6780_6781del (p.Phe2261Ter) n.8303_8304del | COSMIC |
| 5 | g.13793561T>A | CA443265846 | DNAH5 | c.8178A>T (p.Ile2726=) c.8133A>T (p.Ile2711=) n.8385A>T c.8286A>T (p.Ile2762=) c.7191A>T (p.Ile2397=) c.3375A>T (p.Ile1125=) c.2928A>T (p.Ile976=) c.2265A>T (p.Ile755=) c.6780A>T (p.Ile2260=) n.8303A>T | |
| 5 | g.13793561T>C | CA359221137 | DNAH5 | c.8178A>G (p.Ile2726Met) c.8133A>G (p.Ile2711Met) n.8385A>G c.8286A>G (p.Ile2762Met) c.7191A>G (p.Ile2397Met) c.3375A>G (p.Ile1125Met) c.2928A>G (p.Ile976Met) c.2265A>G (p.Ile755Met) c.6780A>G (p.Ile2260Met) n.8303A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13793561T>G | CA443265849 | DNAH5 | c.8178A>C (p.Ile2726=) c.8133A>C (p.Ile2711=) n.8385A>C c.8286A>C (p.Ile2762=) c.7191A>C (p.Ile2397=) c.3375A>C (p.Ile1125=) c.2928A>C (p.Ile976=) c.2265A>C (p.Ile755=) c.6780A>C (p.Ile2260=) n.8303A>C | |
| 5 | g.13793561T= | CA1528441639 | DNAH5 | c.8178A= (p.Ile2726=) c.8133A= (p.Ile2711=) n.8385A= c.8286A= (p.Ile2762=) c.7191A= (p.Ile2397=) c.3375A= (p.Ile1125=) c.2928A= (p.Ile976=) c.2265A= (p.Ile755=) c.6780A= (p.Ile2260=) n.8303A= | |
| 5 | g.13793562A= | CA1528441640 | DNAH5 | c.8177T= (p.Ile2726=) c.8132T= (p.Ile2711=) n.8384T= c.8285T= (p.Ile2762=) c.7190T= (p.Ile2397=) c.3374T= (p.Ile1125=) c.2927T= (p.Ile976=) c.2264T= (p.Ile755=) c.6779T= (p.Ile2260=) n.8302T= | |
| 5 | g.13793562A>C | CA359221142 | DNAH5 | c.8177T>G (p.Ile2726Arg) c.8132T>G (p.Ile2711Arg) n.8384T>G c.8285T>G (p.Ile2762Arg) c.7190T>G (p.Ile2397Arg) c.3374T>G (p.Ile1125Arg) c.2927T>G (p.Ile976Arg) c.2264T>G (p.Ile755Arg) c.6779T>G (p.Ile2260Arg) n.8302T>G | |
| 5 | g.13793562A>G | CA359221146 | DNAH5 | c.8177T>C (p.Ile2726Thr) c.8132T>C (p.Ile2711Thr) n.8384T>C c.8285T>C (p.Ile2762Thr) c.7190T>C (p.Ile2397Thr) c.3374T>C (p.Ile1125Thr) c.2927T>C (p.Ile976Thr) c.2264T>C (p.Ile755Thr) c.6779T>C (p.Ile2260Thr) n.8302T>C | dbSNP gnomAD v4 |
| 5 | g.13793562A>T | CA359221143 | DNAH5 | c.8177T>A (p.Ile2726Lys) c.8132T>A (p.Ile2711Lys) n.8384T>A c.8285T>A (p.Ile2762Lys) c.7190T>A (p.Ile2397Lys) c.3374T>A (p.Ile1125Lys) c.2927T>A (p.Ile976Lys) c.2264T>A (p.Ile755Lys) c.6779T>A (p.Ile2260Lys) n.8302T>A | |
| 5 | g.13793563T>A | CA359221148 | DNAH5 | c.8176A>T (p.Ile2726Leu) c.8131A>T (p.Ile2711Leu) n.8383A>T c.8284A>T (p.Ile2762Leu) c.7189A>T (p.Ile2397Leu) c.3373A>T (p.Ile1125Leu) c.2926A>T (p.Ile976Leu) c.2263A>T (p.Ile755Leu) c.6778A>T (p.Ile2260Leu) n.8301A>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.13793563T>C | CA3202881 | DNAH5 | c.8176A>G (p.Ile2726Val) c.8131A>G (p.Ile2711Val) n.8383A>G c.8284A>G (p.Ile2762Val) c.7189A>G (p.Ile2397Val) c.3373A>G (p.Ile1125Val) c.2926A>G (p.Ile976Val) c.2263A>G (p.Ile755Val) c.6778A>G (p.Ile2260Val) n.8301A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13793563T>G | CA359221150 | DNAH5 | c.8176A>C (p.Ile2726Leu) c.8131A>C (p.Ile2711Leu) n.8383A>C c.8284A>C (p.Ile2762Leu) c.7189A>C (p.Ile2397Leu) c.3373A>C (p.Ile1125Leu) c.2926A>C (p.Ile976Leu) c.2263A>C (p.Ile755Leu) c.6778A>C (p.Ile2260Leu) n.8301A>C | |
| 5 | g.13793563T= | CA1528441641 | DNAH5 | c.8176A= (p.Ile2726=) c.8131A= (p.Ile2711=) n.8383A= c.8284A= (p.Ile2762=) c.7189A= (p.Ile2397=) c.3373A= (p.Ile1125=) c.2926A= (p.Ile976=) c.2263A= (p.Ile755=) c.6778A= (p.Ile2260=) n.8301A= | |
| 5 | g.13793564A= | CA1528441642 | DNAH5 | c.8175T= (p.Ser2725=) c.8130T= (p.Ser2710=) n.8382T= c.8283T= (p.Ser2761=) c.7188T= (p.Ser2396=) c.3372T= (p.Ser1124=) c.2925T= (p.Ser975=) c.2262T= (p.Ser754=) c.6777T= (p.Ser2259=) n.8300T= | |
| 5 | g.13793564A>C | CA443265861 | DNAH5 | c.8175T>G (p.Ser2725=) c.8130T>G (p.Ser2710=) n.8382T>G c.8283T>G (p.Ser2761=) c.7188T>G (p.Ser2396=) c.3372T>G (p.Ser1124=) c.2925T>G (p.Ser975=) c.2262T>G (p.Ser754=) c.6777T>G (p.Ser2259=) n.8300T>G | |
| 5 | g.13793564A>G | CA443265863 | DNAH5 | c.8175T>C (p.Ser2725=) c.8130T>C (p.Ser2710=) n.8382T>C c.8283T>C (p.Ser2761=) c.7188T>C (p.Ser2396=) c.3372T>C (p.Ser1124=) c.2925T>C (p.Ser975=) c.2262T>C (p.Ser754=) c.6777T>C (p.Ser2259=) n.8300T>C | dbSNP |
| 5 | g.13793564A>T | CA443265865 | DNAH5 | c.8175T>A (p.Ser2725=) c.8130T>A (p.Ser2710=) n.8382T>A c.8283T>A (p.Ser2761=) c.7188T>A (p.Ser2396=) c.3372T>A (p.Ser1124=) c.2925T>A (p.Ser975=) c.2262T>A (p.Ser754=) c.6777T>A (p.Ser2259=) n.8300T>A | |
| 5 | g.13793565G>A | CA359221152 | DNAH5 | c.8174C>T (p.Ser2725Phe) c.8129C>T (p.Ser2710Phe) n.8381C>T c.8282C>T (p.Ser2761Phe) c.7187C>T (p.Ser2396Phe) c.3371C>T (p.Ser1124Phe) c.2924C>T (p.Ser975Phe) c.2261C>T (p.Ser754Phe) c.6776C>T (p.Ser2259Phe) n.8299C>T | |
| 5 | g.13793565G>C | CA3202882 | DNAH5 | c.8174C>G (p.Ser2725Cys) c.8129C>G (p.Ser2710Cys) n.8381C>G c.8282C>G (p.Ser2761Cys) c.7187C>G (p.Ser2396Cys) c.3371C>G (p.Ser1124Cys) c.2924C>G (p.Ser975Cys) c.2261C>G (p.Ser754Cys) c.6776C>G (p.Ser2259Cys) n.8299C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13793565G= | CA1528441643 | DNAH5 | c.8174C= (p.Ser2725=) c.8129C= (p.Ser2710=) n.8381C= c.8282C= (p.Ser2761=) c.7187C= (p.Ser2396=) c.3371C= (p.Ser1124=) c.2924C= (p.Ser975=) c.2261C= (p.Ser754=) c.6776C= (p.Ser2259=) n.8299C= | |
| 5 | g.13793565G>T | CA359221154 | DNAH5 | c.8174C>A (p.Ser2725Tyr) c.8129C>A (p.Ser2710Tyr) n.8381C>A c.8282C>A (p.Ser2761Tyr) c.7187C>A (p.Ser2396Tyr) c.3371C>A (p.Ser1124Tyr) c.2924C>A (p.Ser975Tyr) c.2261C>A (p.Ser754Tyr) c.6776C>A (p.Ser2259Tyr) n.8299C>A | |
| 5 | g.13793566A>C | CA359221158 | DNAH5 | c.8173T>G (p.Ser2725Ala) c.8128T>G (p.Ser2710Ala) n.8380T>G c.8281T>G (p.Ser2761Ala) c.7186T>G (p.Ser2396Ala) c.3370T>G (p.Ser1124Ala) c.2923T>G (p.Ser975Ala) c.2260T>G (p.Ser754Ala) c.6775T>G (p.Ser2259Ala) n.8298T>G | |
| 5 | g.13793566A>G | CA359221156 | DNAH5 | c.8173T>C (p.Ser2725Pro) c.8128T>C (p.Ser2710Pro) n.8380T>C c.8281T>C (p.Ser2761Pro) c.7186T>C (p.Ser2396Pro) c.3370T>C (p.Ser1124Pro) c.2923T>C (p.Ser975Pro) c.2260T>C (p.Ser754Pro) c.6775T>C (p.Ser2259Pro) n.8298T>C | |
| 5 | g.13793566A>T | CA359221157 | DNAH5 | c.8173T>A (p.Ser2725Thr) c.8128T>A (p.Ser2710Thr) n.8380T>A c.8281T>A (p.Ser2761Thr) c.7186T>A (p.Ser2396Thr) c.3370T>A (p.Ser1124Thr) c.2923T>A (p.Ser975Thr) c.2260T>A (p.Ser754Thr) c.6775T>A (p.Ser2259Thr) n.8298T>A | |
| 5 | g.13793567G>A | CA443265881 | DNAH5 | c.8172C>T (p.Phe2724=) c.8127C>T (p.Phe2709=) n.8379C>T c.8280C>T (p.Phe2760=) c.7185C>T (p.Phe2395=) c.3369C>T (p.Phe1123=) c.2922C>T (p.Phe974=) c.2259C>T (p.Phe753=) c.6774C>T (p.Phe2258=) n.8297C>T | gnomAD v4 COSMIC |
| 5 | g.13793567G>C | CA359221159 | DNAH5 | c.8172C>G (p.Phe2724Leu) c.8127C>G (p.Phe2709Leu) n.8379C>G c.8280C>G (p.Phe2760Leu) c.7185C>G (p.Phe2395Leu) c.3369C>G (p.Phe1123Leu) c.2922C>G (p.Phe974Leu) c.2259C>G (p.Phe753Leu) c.6774C>G (p.Phe2258Leu) n.8297C>G | gnomAD v4 COSMIC |
| 5 | g.13793567G>T | CA359221160 | DNAH5 | c.8172C>A (p.Phe2724Leu) c.8127C>A (p.Phe2709Leu) n.8379C>A c.8280C>A (p.Phe2760Leu) c.7185C>A (p.Phe2395Leu) c.3369C>A (p.Phe1123Leu) c.2922C>A (p.Phe974Leu) c.2259C>A (p.Phe753Leu) c.6774C>A (p.Phe2258Leu) n.8297C>A | |
| 5 | g.13793568A= | CA1528441644 | DNAH5 | c.8171T= (p.Phe2724=) c.8126T= (p.Phe2709=) n.8378T= c.8279T= (p.Phe2760=) c.7184T= (p.Phe2395=) c.3368T= (p.Phe1123=) c.2921T= (p.Phe974=) c.2258T= (p.Phe753=) c.6773T= (p.Phe2258=) n.8296T= | |
| 5 | g.13793568A>C | CA359221162 | DNAH5 | c.8171T>G (p.Phe2724Cys) c.8126T>G (p.Phe2709Cys) n.8378T>G c.8279T>G (p.Phe2760Cys) c.7184T>G (p.Phe2395Cys) c.3368T>G (p.Phe1123Cys) c.2921T>G (p.Phe974Cys) c.2258T>G (p.Phe753Cys) c.6773T>G (p.Phe2258Cys) n.8296T>G | |
| 5 | g.13793568A>G | CA359221168 | DNAH5 | c.8171T>C (p.Phe2724Ser) c.8126T>C (p.Phe2709Ser) n.8378T>C c.8279T>C (p.Phe2760Ser) c.7184T>C (p.Phe2395Ser) c.3368T>C (p.Phe1123Ser) c.2921T>C (p.Phe974Ser) c.2258T>C (p.Phe753Ser) c.6773T>C (p.Phe2258Ser) n.8296T>C | gnomAD v4 |
| 5 | g.13793568A>T | CA359221170 | DNAH5 | c.8171T>A (p.Phe2724Tyr) c.8126T>A (p.Phe2709Tyr) n.8378T>A c.8279T>A (p.Phe2760Tyr) c.7184T>A (p.Phe2395Tyr) c.3368T>A (p.Phe1123Tyr) c.2921T>A (p.Phe974Tyr) c.2258T>A (p.Phe753Tyr) c.6773T>A (p.Phe2258Tyr) n.8296T>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13793569A= | CA1528441645 | DNAH5 | c.8170T= (p.Phe2724=) c.8125T= (p.Phe2709=) n.8377T= c.8278T= (p.Phe2760=) c.7183T= (p.Phe2395=) c.3367T= (p.Phe1123=) c.2920T= (p.Phe974=) c.2257T= (p.Phe753=) c.6772T= (p.Phe2258=) n.8295T= | |
| 5 | g.13793569A>C | CA359221173 | DNAH5 | c.8170T>G (p.Phe2724Val) c.8125T>G (p.Phe2709Val) n.8377T>G c.8278T>G (p.Phe2760Val) c.7183T>G (p.Phe2395Val) c.3367T>G (p.Phe1123Val) c.2920T>G (p.Phe974Val) c.2257T>G (p.Phe753Val) c.6772T>G (p.Phe2258Val) n.8295T>G | |
| 5 | g.13793569A>G | CA3202884 | DNAH5 | c.8170T>C (p.Phe2724Leu) c.8125T>C (p.Phe2709Leu) n.8377T>C c.8278T>C (p.Phe2760Leu) c.7183T>C (p.Phe2395Leu) c.3367T>C (p.Phe1123Leu) c.2920T>C (p.Phe974Leu) c.2257T>C (p.Phe753Leu) c.6772T>C (p.Phe2258Leu) n.8295T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13793569A>T | CA3202883 | DNAH5 | c.8170T>A (p.Phe2724Ile) c.8125T>A (p.Phe2709Ile) n.8377T>A c.8278T>A (p.Phe2760Ile) c.7183T>A (p.Phe2395Ile) c.3367T>A (p.Phe1123Ile) c.2920T>A (p.Phe974Ile) c.2257T>A (p.Phe753Ile) c.6772T>A (p.Phe2258Ile) n.8295T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13793570C>A | CA359221174 | DNAH5 | c.8169G>T (p.Gln2723His) c.8124G>T (p.Gln2708His) n.8376G>T c.8277G>T (p.Gln2759His) c.7182G>T (p.Gln2394His) c.3366G>T (p.Gln1122His) c.2919G>T (p.Gln973His) c.2256G>T (p.Gln752His) c.6771G>T (p.Gln2257His) n.8294G>T | |
| 5 | g.13793570C= | CA1528441646 | DNAH5 | c.8169G= (p.Gln2723=) c.8124G= (p.Gln2708=) n.8376G= c.8277G= (p.Gln2759=) c.7182G= (p.Gln2394=) c.3366G= (p.Gln1122=) c.2919G= (p.Gln973=) c.2256G= (p.Gln752=) c.6771G= (p.Gln2257=) n.8294G= | |
| 5 | g.13793570C>G | CA359221175 | DNAH5 | c.8169G>C (p.Gln2723His) c.8124G>C (p.Gln2708His) n.8376G>C c.8277G>C (p.Gln2759His) c.7182G>C (p.Gln2394His) c.3366G>C (p.Gln1122His) c.2919G>C (p.Gln973His) c.2256G>C (p.Gln752His) c.6771G>C (p.Gln2257His) n.8294G>C | |
| 5 | g.13793570C>T | CA3202885 | DNAH5 | c.8169G>A (p.Gln2723=) c.8124G>A (p.Gln2708=) n.8376G>A c.8277G>A (p.Gln2759=) c.7182G>A (p.Gln2394=) c.3366G>A (p.Gln1122=) c.2919G>A (p.Gln973=) c.2256G>A (p.Gln752=) c.6771G>A (p.Gln2257=) n.8294G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13793571T>A | CA359221177 | DNAH5 | c.8168A>T (p.Gln2723Leu) c.8123A>T (p.Gln2708Leu) n.8375A>T c.8276A>T (p.Gln2759Leu) c.7181A>T (p.Gln2394Leu) c.3365A>T (p.Gln1122Leu) c.2918A>T (p.Gln973Leu) c.2255A>T (p.Gln752Leu) c.6770A>T (p.Gln2257Leu) n.8293A>T | ClinVar dbSNP |
| 5 | g.13793571T>C | CA113961758 | DNAH5 | c.8168A>G (p.Gln2723Arg) c.8123A>G (p.Gln2708Arg) n.8375A>G c.8276A>G (p.Gln2759Arg) c.7181A>G (p.Gln2394Arg) c.3365A>G (p.Gln1122Arg) c.2918A>G (p.Gln973Arg) c.2255A>G (p.Gln752Arg) c.6770A>G (p.Gln2257Arg) n.8293A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13793571T>G | CA359221179 | DNAH5 | c.8168A>C (p.Gln2723Pro) c.8123A>C (p.Gln2708Pro) n.8375A>C c.8276A>C (p.Gln2759Pro) c.7181A>C (p.Gln2394Pro) c.3365A>C (p.Gln1122Pro) c.2918A>C (p.Gln973Pro) c.2255A>C (p.Gln752Pro) c.6770A>C (p.Gln2257Pro) n.8293A>C | |
| 5 | g.13793571T= | CA1528441647 | DNAH5 | c.8168A= (p.Gln2723=) c.8123A= (p.Gln2708=) n.8375A= c.8276A= (p.Gln2759=) c.7181A= (p.Gln2394=) c.3365A= (p.Gln1122=) c.2918A= (p.Gln973=) c.2255A= (p.Gln752=) c.6770A= (p.Gln2257=) n.8293A= | |
| 5 | g.13793572G>A | CA359221180 | DNAH5 | c.8167C>T (p.Gln2723Ter) c.8122C>T (p.Gln2708Ter) n.8374C>T c.8275C>T (p.Gln2759Ter) c.7180C>T (p.Gln2394Ter) c.3364C>T (p.Gln1122Ter) c.2917C>T (p.Gln973Ter) c.2254C>T (p.Gln752Ter) c.6769C>T (p.Gln2257Ter) n.8292C>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.13793572G>C | CA359221181 | DNAH5 | c.8167C>G (p.Gln2723Glu) c.8122C>G (p.Gln2708Glu) n.8374C>G c.8275C>G (p.Gln2759Glu) c.7180C>G (p.Gln2394Glu) c.3364C>G (p.Gln1122Glu) c.2917C>G (p.Gln973Glu) c.2254C>G (p.Gln752Glu) c.6769C>G (p.Gln2257Glu) n.8292C>G | dbSNP gnomAD v2 |
| 5 | g.13793572G= | CA1528441648 | DNAH5 | c.8167C= (p.Gln2723=) c.8122C= (p.Gln2708=) n.8374C= c.8275C= (p.Gln2759=) c.7180C= (p.Gln2394=) c.3364C= (p.Gln1122=) c.2917C= (p.Gln973=) c.2254C= (p.Gln752=) c.6769C= (p.Gln2257=) n.8292C= | |
| 5 | g.13793572G>T | CA359221183 | DNAH5 | c.8167C>A (p.Gln2723Lys) c.8122C>A (p.Gln2708Lys) n.8374C>A c.8275C>A (p.Gln2759Lys) c.7180C>A (p.Gln2394Lys) c.3364C>A (p.Gln1122Lys) c.2917C>A (p.Gln973Lys) c.2254C>A (p.Gln752Lys) c.6769C>A (p.Gln2257Lys) n.8292C>A | |
| 5 | g.13793573C>A | CA359221185 | DNAH5 | c.8166G>T (p.Arg2722Ser) c.8121G>T (p.Arg2707Ser) n.8373G>T c.8274G>T (p.Arg2758Ser) c.7179G>T (p.Arg2393Ser) c.3363G>T (p.Arg1121Ser) c.2916G>T (p.Arg972Ser) c.2253G>T (p.Arg751Ser) c.6768G>T (p.Arg2256Ser) n.8291G>T | |
| 5 | g.13793573C>G | CA359221187 | DNAH5 | c.8166G>C (p.Arg2722Ser) c.8121G>C (p.Arg2707Ser) n.8373G>C c.8274G>C (p.Arg2758Ser) c.7179G>C (p.Arg2393Ser) c.3363G>C (p.Arg1121Ser) c.2916G>C (p.Arg972Ser) c.2253G>C (p.Arg751Ser) c.6768G>C (p.Arg2256Ser) n.8291G>C | |
| 5 | g.13793573C>T | CA443265910 | DNAH5 | c.8166G>A (p.Arg2722=) c.8121G>A (p.Arg2707=) n.8373G>A c.8274G>A (p.Arg2758=) c.7179G>A (p.Arg2393=) c.3363G>A (p.Arg1121=) c.2916G>A (p.Arg972=) c.2253G>A (p.Arg751=) c.6768G>A (p.Arg2256=) n.8291G>A | ClinVar dbSNP |
| 5 | g.13793574C>A | CA359221190 | DNAH5 | c.8165G>T (p.Arg2722Met) c.8120G>T (p.Arg2707Met) n.8372G>T c.8273G>T (p.Arg2758Met) c.7178G>T (p.Arg2393Met) c.3362G>T (p.Arg1121Met) c.2915G>T (p.Arg972Met) c.2252G>T (p.Arg751Met) c.6767G>T (p.Arg2256Met) n.8290G>T | COSMIC |
| 5 | g.13793574C>G | CA359221191 | DNAH5 | c.8165G>C (p.Arg2722Thr) c.8120G>C (p.Arg2707Thr) n.8372G>C c.8273G>C (p.Arg2758Thr) c.7178G>C (p.Arg2393Thr) c.3362G>C (p.Arg1121Thr) c.2915G>C (p.Arg972Thr) c.2252G>C (p.Arg751Thr) c.6767G>C (p.Arg2256Thr) n.8290G>C | |
| 5 | g.13793574C>T | CA359221188 | DNAH5 | c.8165G>A (p.Arg2722Lys) c.8120G>A (p.Arg2707Lys) n.8372G>A c.8273G>A (p.Arg2758Lys) c.7178G>A (p.Arg2393Lys) c.3362G>A (p.Arg1121Lys) c.2915G>A (p.Arg972Lys) c.2252G>A (p.Arg751Lys) c.6767G>A (p.Arg2256Lys) n.8290G>A | COSMIC |
| 5 | g.13793575del | CA2765334568 | DNAH5 | c.8164del (p.Arg2722GlyfsTer22) c.8119del (p.Arg2707GlyfsTer22) n.8371del c.8272del (p.Arg2758GlyfsTer22) c.7177del (p.Arg2393GlyfsTer22) c.3361del (p.Arg1121GlyfsTer22) c.2914del (p.Arg972GlyfsTer22) c.2251del (p.Arg751GlyfsTer22) c.6766del (p.Arg2256GlyfsTer22) n.8289del | |
| 5 | g.13793575T>A | CA359221197 | DNAH5 | c.8164A>T (p.Arg2722Trp) c.8119A>T (p.Arg2707Trp) n.8371A>T c.8272A>T (p.Arg2758Trp) c.7177A>T (p.Arg2393Trp) c.3361A>T (p.Arg1121Trp) c.2914A>T (p.Arg972Trp) c.2251A>T (p.Arg751Trp) c.6766A>T (p.Arg2256Trp) n.8289A>T | |
| 5 | g.13793575T>C | CA359221195 | DNAH5 | c.8164A>G (p.Arg2722Gly) c.8119A>G (p.Arg2707Gly) n.8371A>G c.8272A>G (p.Arg2758Gly) c.7177A>G (p.Arg2393Gly) c.3361A>G (p.Arg1121Gly) c.2914A>G (p.Arg972Gly) c.2251A>G (p.Arg751Gly) c.6766A>G (p.Arg2256Gly) n.8289A>G | |
| 5 | g.13793575T>G | CA443265920 | DNAH5 | c.8164A>C (p.Arg2722=) c.8119A>C (p.Arg2707=) n.8371A>C c.8272A>C (p.Arg2758=) c.7177A>C (p.Arg2393=) c.3361A>C (p.Arg1121=) c.2914A>C (p.Arg972=) c.2251A>C (p.Arg751=) c.6766A>C (p.Arg2256=) n.8289A>C | |
| 5 | g.13793576C>A | CA359221199 | DNAH5 | c.8163G>T (p.Lys2721Asn) c.8118G>T (p.Lys2706Asn) n.8370G>T c.8271G>T (p.Lys2757Asn) c.7176G>T (p.Lys2392Asn) c.3360G>T (p.Lys1120Asn) c.2913G>T (p.Lys971Asn) c.2250G>T (p.Lys750Asn) c.6765G>T (p.Lys2255Asn) n.8288G>T | |
| 5 | g.13793576C>G | CA359221202 | DNAH5 | c.8163G>C (p.Lys2721Asn) c.8118G>C (p.Lys2706Asn) n.8370G>C c.8271G>C (p.Lys2757Asn) c.7176G>C (p.Lys2392Asn) c.3360G>C (p.Lys1120Asn) c.2913G>C (p.Lys971Asn) c.2250G>C (p.Lys750Asn) c.6765G>C (p.Lys2255Asn) n.8288G>C | |
| 5 | g.13793576C>T | CA443265925 | DNAH5 | c.8163G>A (p.Lys2721=) c.8118G>A (p.Lys2706=) n.8370G>A c.8271G>A (p.Lys2757=) c.7176G>A (p.Lys2392=) c.3360G>A (p.Lys1120=) c.2913G>A (p.Lys971=) c.2250G>A (p.Lys750=) c.6765G>A (p.Lys2255=) n.8288G>A | COSMIC |
| 5 | g.13793577T>A | CA359221203 | DNAH5 | c.8162A>T (p.Lys2721Met) c.8117A>T (p.Lys2706Met) n.8369A>T c.8270A>T (p.Lys2757Met) c.7175A>T (p.Lys2392Met) c.3359A>T (p.Lys1120Met) c.2912A>T (p.Lys971Met) c.2249A>T (p.Lys750Met) c.6764A>T (p.Lys2255Met) n.8287A>T | |
| 5 | g.13793577T>C | CA359221204 | DNAH5 | c.8162A>G (p.Lys2721Arg) c.8117A>G (p.Lys2706Arg) n.8369A>G c.8270A>G (p.Lys2757Arg) c.7175A>G (p.Lys2392Arg) c.3359A>G (p.Lys1120Arg) c.2912A>G (p.Lys971Arg) c.2249A>G (p.Lys750Arg) c.6764A>G (p.Lys2255Arg) n.8287A>G | |
| 5 | g.13793577T>G | CA359221205 | DNAH5 | c.8162A>C (p.Lys2721Thr) c.8117A>C (p.Lys2706Thr) n.8369A>C c.8270A>C (p.Lys2757Thr) c.7175A>C (p.Lys2392Thr) c.3359A>C (p.Lys1120Thr) c.2912A>C (p.Lys971Thr) c.2249A>C (p.Lys750Thr) c.6764A>C (p.Lys2255Thr) n.8287A>C | |
| 5 | g.13793577_13793578del | CA2739274580 | DNAH5 | c.8161_8162del (p.Lys2721GlufsTer7) c.8116_8117del (p.Lys2706GlufsTer7) n.8368_8369del c.8269_8270del (p.Lys2757GlufsTer7) c.7174_7175del (p.Lys2392GlufsTer7) c.3358_3359del (p.Lys1120GlufsTer7) c.2911_2912del (p.Lys971GlufsTer7) c.2248_2249del (p.Lys750GlufsTer7) c.6763_6764del (p.Lys2255GlufsTer7) n.8286_8287del | ClinVar |
| 5 | g.13793578T>A | CA359221207 | DNAH5 | c.8161A>T (p.Lys2721Ter) c.8116A>T (p.Lys2706Ter) n.8368A>T c.8269A>T (p.Lys2757Ter) c.7174A>T (p.Lys2392Ter) c.3358A>T (p.Lys1120Ter) c.2911A>T (p.Lys971Ter) c.2248A>T (p.Lys750Ter) c.6763A>T (p.Lys2255Ter) n.8286A>T | ClinVar |
| 5 | g.13793578T>C | CA359221208 | DNAH5 | c.8161A>G (p.Lys2721Glu) c.8116A>G (p.Lys2706Glu) n.8368A>G c.8269A>G (p.Lys2757Glu) c.7174A>G (p.Lys2392Glu) c.3358A>G (p.Lys1120Glu) c.2911A>G (p.Lys971Glu) c.2248A>G (p.Lys750Glu) c.6763A>G (p.Lys2255Glu) n.8286A>G | |
| 5 | g.13793578T>G | CA359221210 | DNAH5 | c.8161A>C (p.Lys2721Gln) c.8116A>C (p.Lys2706Gln) n.8368A>C c.8269A>C (p.Lys2757Gln) c.7174A>C (p.Lys2392Gln) c.3358A>C (p.Lys1120Gln) c.2911A>C (p.Lys971Gln) c.2248A>C (p.Lys750Gln) c.6763A>C (p.Lys2255Gln) n.8286A>C | gnomAD v4 |
| 5 | g.13793579G>A | CA443265940 | DNAH5 | c.8160C>T (p.Leu2720=) c.8115C>T (p.Leu2705=) n.8367C>T c.8268C>T (p.Leu2756=) c.7173C>T (p.Leu2391=) c.3357C>T (p.Leu1119=) c.2910C>T (p.Leu970=) c.2247C>T (p.Leu749=) c.6762C>T (p.Leu2254=) n.8285C>T | |
| 5 | g.13793579G>C | CA443265942 | DNAH5 | c.8160C>G (p.Leu2720=) c.8115C>G (p.Leu2705=) n.8367C>G c.8268C>G (p.Leu2756=) c.7173C>G (p.Leu2391=) c.3357C>G (p.Leu1119=) c.2910C>G (p.Leu970=) c.2247C>G (p.Leu749=) c.6762C>G (p.Leu2254=) n.8285C>G | dbSNP gnomAD v4 |
| 5 | g.13793579G= | CA1528441649 | DNAH5 | c.8160C= (p.Leu2720=) c.8115C= (p.Leu2705=) n.8367C= c.8268C= (p.Leu2756=) c.7173C= (p.Leu2391=) c.3357C= (p.Leu1119=) c.2910C= (p.Leu970=) c.2247C= (p.Leu749=) c.6762C= (p.Leu2254=) n.8285C= | |
| 5 | g.13793579G>T | CA443265943 | DNAH5 | c.8160C>A (p.Leu2720=) c.8115C>A (p.Leu2705=) n.8367C>A c.8268C>A (p.Leu2756=) c.7173C>A (p.Leu2391=) c.3357C>A (p.Leu1119=) c.2910C>A (p.Leu970=) c.2247C>A (p.Leu749=) c.6762C>A (p.Leu2254=) n.8285C>A | |
| 5 | g.13793580A>C | CA359221211 | DNAH5 | c.8159T>G (p.Leu2720Arg) c.8114T>G (p.Leu2705Arg) n.8366T>G c.8267T>G (p.Leu2756Arg) c.7172T>G (p.Leu2391Arg) c.3356T>G (p.Leu1119Arg) c.2909T>G (p.Leu970Arg) c.2246T>G (p.Leu749Arg) c.6761T>G (p.Leu2254Arg) n.8284T>G | |
| 5 | g.13793580A>G | CA359221213 | DNAH5 | c.8159T>C (p.Leu2720Pro) c.8114T>C (p.Leu2705Pro) n.8366T>C c.8267T>C (p.Leu2756Pro) c.7172T>C (p.Leu2391Pro) c.3356T>C (p.Leu1119Pro) c.2909T>C (p.Leu970Pro) c.2246T>C (p.Leu749Pro) c.6761T>C (p.Leu2254Pro) n.8284T>C | |
| 5 | g.13793580A>T | CA359221215 | DNAH5 | c.8159T>A (p.Leu2720His) c.8114T>A (p.Leu2705His) n.8366T>A c.8267T>A (p.Leu2756His) c.7172T>A (p.Leu2391His) c.3356T>A (p.Leu1119His) c.2909T>A (p.Leu970His) c.2246T>A (p.Leu749His) c.6761T>A (p.Leu2254His) n.8284T>A | |
| 5 | g.13793581G>A | CA359221220 | DNAH5 | c.8158C>T (p.Leu2720Phe) c.8113C>T (p.Leu2705Phe) n.8365C>T c.8266C>T (p.Leu2756Phe) c.7171C>T (p.Leu2391Phe) c.3355C>T (p.Leu1119Phe) c.2908C>T (p.Leu970Phe) c.2245C>T (p.Leu749Phe) c.6760C>T (p.Leu2254Phe) n.8283C>T | |
| 5 | g.13793581G>C | CA359221217 | DNAH5 | c.8158C>G (p.Leu2720Val) c.8113C>G (p.Leu2705Val) n.8365C>G c.8266C>G (p.Leu2756Val) c.7171C>G (p.Leu2391Val) c.3355C>G (p.Leu1119Val) c.2908C>G (p.Leu970Val) c.2245C>G (p.Leu749Val) c.6760C>G (p.Leu2254Val) n.8283C>G | |
| 5 | g.13793581G>T | CA359221219 | DNAH5 | c.8158C>A (p.Leu2720Ile) c.8113C>A (p.Leu2705Ile) n.8365C>A c.8266C>A (p.Leu2756Ile) c.7171C>A (p.Leu2391Ile) c.3355C>A (p.Leu1119Ile) c.2908C>A (p.Leu970Ile) c.2245C>A (p.Leu749Ile) c.6760C>A (p.Leu2254Ile) n.8283C>A | |
| 5 | g.13793582T>A | CA359221221 | DNAH5 | c.8157A>T (p.Arg2719Ser) c.8112A>T (p.Arg2704Ser) n.8364A>T c.8265A>T (p.Arg2755Ser) c.7170A>T (p.Arg2390Ser) c.3354A>T (p.Arg1118Ser) c.2907A>T (p.Arg969Ser) c.2244A>T (p.Arg748Ser) c.6759A>T (p.Arg2253Ser) n.8282A>T | |
| 5 | g.13793582T>C | CA443265959 | DNAH5 | c.8157A>G (p.Arg2719=) c.8112A>G (p.Arg2704=) n.8364A>G c.8265A>G (p.Arg2755=) c.7170A>G (p.Arg2390=) c.3354A>G (p.Arg1118=) c.2907A>G (p.Arg969=) c.2244A>G (p.Arg748=) c.6759A>G (p.Arg2253=) n.8282A>G | |
| 5 | g.13793582T>G | CA359221223 | DNAH5 | c.8157A>C (p.Arg2719Ser) c.8112A>C (p.Arg2704Ser) n.8364A>C c.8265A>C (p.Arg2755Ser) c.7170A>C (p.Arg2390Ser) c.3354A>C (p.Arg1118Ser) c.2907A>C (p.Arg969Ser) c.2244A>C (p.Arg748Ser) c.6759A>C (p.Arg2253Ser) n.8282A>C | |
| 5 | g.13793583C>A | CA359221224 | DNAH5 | c.8156G>T (p.Arg2719Ile) c.8111G>T (p.Arg2704Ile) n.8363G>T c.8264G>T (p.Arg2755Ile) c.7169G>T (p.Arg2390Ile) c.3353G>T (p.Arg1118Ile) c.2906G>T (p.Arg969Ile) c.2243G>T (p.Arg748Ile) c.6758G>T (p.Arg2253Ile) n.8281G>T | |
| 5 | g.13793583C>G | CA359221225 | DNAH5 | c.8156G>C (p.Arg2719Thr) c.8111G>C (p.Arg2704Thr) n.8363G>C c.8264G>C (p.Arg2755Thr) c.7169G>C (p.Arg2390Thr) c.3353G>C (p.Arg1118Thr) c.2906G>C (p.Arg969Thr) c.2243G>C (p.Arg748Thr) c.6758G>C (p.Arg2253Thr) n.8281G>C | |
| 5 | g.13793583C>T | CA359221227 | DNAH5 | c.8156G>A (p.Arg2719Lys) c.8111G>A (p.Arg2704Lys) n.8363G>A c.8264G>A (p.Arg2755Lys) c.7169G>A (p.Arg2390Lys) c.3353G>A (p.Arg1118Lys) c.2906G>A (p.Arg969Lys) c.2243G>A (p.Arg748Lys) c.6758G>A (p.Arg2253Lys) n.8281G>A | |
| 5 | g.13793584T>A | CA359221228 | DNAH5 | c.8155A>T (p.Arg2719Ter) c.8110A>T (p.Arg2704Ter) n.8362A>T c.8263A>T (p.Arg2755Ter) c.7168A>T (p.Arg2390Ter) c.3352A>T (p.Arg1118Ter) c.2905A>T (p.Arg969Ter) c.2242A>T (p.Arg748Ter) c.6757A>T (p.Arg2253Ter) n.8280A>T | |
| 5 | g.13793584T>C | CA359221229 | DNAH5 | c.8155A>G (p.Arg2719Gly) c.8110A>G (p.Arg2704Gly) n.8362A>G c.8263A>G (p.Arg2755Gly) c.7168A>G (p.Arg2390Gly) c.3352A>G (p.Arg1118Gly) c.2905A>G (p.Arg969Gly) c.2242A>G (p.Arg748Gly) c.6757A>G (p.Arg2253Gly) n.8280A>G | |
| 5 | g.13793584T>G | CA443265968 | DNAH5 | c.8155A>C (p.Arg2719=) c.8110A>C (p.Arg2704=) n.8362A>C c.8263A>C (p.Arg2755=) c.7168A>C (p.Arg2390=) c.3352A>C (p.Arg1118=) c.2905A>C (p.Arg969=) c.2242A>C (p.Arg748=) c.6757A>C (p.Arg2253=) n.8280A>C | |
| 5 | g.13793585T>A | CA359221231 | DNAH5 | c.8154A>T (p.Gln2718His) c.8109A>T (p.Gln2703His) n.8361A>T c.8262A>T (p.Gln2754His) c.7167A>T (p.Gln2389His) c.3351A>T (p.Gln1117His) c.2904A>T (p.Gln968His) c.2241A>T (p.Gln747His) c.6756A>T (p.Gln2252His) n.8279A>T | |
| 5 | g.13793585T>C | CA443265971 | DNAH5 | c.8154A>G (p.Gln2718=) c.8109A>G (p.Gln2703=) n.8361A>G c.8262A>G (p.Gln2754=) c.7167A>G (p.Gln2389=) c.3351A>G (p.Gln1117=) c.2904A>G (p.Gln968=) c.2241A>G (p.Gln747=) c.6756A>G (p.Gln2252=) n.8279A>G | |
| 5 | g.13793585T>G | CA359221232 | DNAH5 | c.8154A>C (p.Gln2718His) c.8109A>C (p.Gln2703His) n.8361A>C c.8262A>C (p.Gln2754His) c.7167A>C (p.Gln2389His) c.3351A>C (p.Gln1117His) c.2904A>C (p.Gln968His) c.2241A>C (p.Gln747His) c.6756A>C (p.Gln2252His) n.8279A>C | |
| 5 | g.13793586T>A | CA359221234 | DNAH5 | c.8153A>T (p.Gln2718Leu) c.8108A>T (p.Gln2703Leu) n.8360A>T c.8261A>T (p.Gln2754Leu) c.7166A>T (p.Gln2389Leu) c.3350A>T (p.Gln1117Leu) c.2903A>T (p.Gln968Leu) c.2240A>T (p.Gln747Leu) c.6755A>T (p.Gln2252Leu) n.8278A>T | |
| 5 | g.13793586T>C | CA359221235 | DNAH5 | c.8153A>G (p.Gln2718Arg) c.8108A>G (p.Gln2703Arg) n.8360A>G c.8261A>G (p.Gln2754Arg) c.7166A>G (p.Gln2389Arg) c.3350A>G (p.Gln1117Arg) c.2903A>G (p.Gln968Arg) c.2240A>G (p.Gln747Arg) c.6755A>G (p.Gln2252Arg) n.8278A>G | ClinVar dbSNP |
| 5 | g.13793586T>G | CA359221236 | DNAH5 | c.8153A>C (p.Gln2718Pro) c.8108A>C (p.Gln2703Pro) n.8360A>C c.8261A>C (p.Gln2754Pro) c.7166A>C (p.Gln2389Pro) c.3350A>C (p.Gln1117Pro) c.2903A>C (p.Gln968Pro) c.2240A>C (p.Gln747Pro) c.6755A>C (p.Gln2252Pro) n.8278A>C | |
| 5 | g.13793586T= | CA1528441650 | DNAH5 | c.8153A= (p.Gln2718=) c.8108A= (p.Gln2703=) n.8360A= c.8261A= (p.Gln2754=) c.7166A= (p.Gln2389=) c.3350A= (p.Gln1117=) c.2903A= (p.Gln968=) c.2240A= (p.Gln747=) c.6755A= (p.Gln2252=) n.8278A= |