UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13791938T>C | CA113959839 | DNAH5 | c.8448+56A>G (n.8448+56A>G) c.8403+56A>G (n.8403+56A>G) n.8655+56A>G c.8556+56A>G (n.8556+56A>G) c.7461+56A>G (n.7461+56A>G) c.3645+56A>G (n.3645+56A>G) c.3198+56A>G (n.3198+56A>G) c.2535+56A>G (n.2535+56A>G) c.7050+56A>G (n.7050+56A>G) n.8573+56A>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13791938T= | CA1528440890 | DNAH5 | c.8448+56A= (n.8448+56A=) c.8403+56A= (n.8403+56A=) n.8655+56A= c.8556+56A= (n.8556+56A=) c.7461+56A= (n.7461+56A=) c.3645+56A= (n.3645+56A=) c.3198+56A= (n.3198+56A=) c.2535+56A= (n.2535+56A=) c.7050+56A= (n.7050+56A=) n.8573+56A= | |
| 5 | g.13791940G>C | CA113959854 | DNAH5 | c.8448+54C>G (n.8448+54C>G) c.8403+54C>G (n.8403+54C>G) n.8655+54C>G c.8556+54C>G (n.8556+54C>G) c.7461+54C>G (n.7461+54C>G) c.3645+54C>G (n.3645+54C>G) c.3198+54C>G (n.3198+54C>G) c.2535+54C>G (n.2535+54C>G) c.7050+54C>G (n.7050+54C>G) n.8573+54C>G | dbSNP gnomAD v4 |
| 5 | g.13791940G= | CA1528440891 | DNAH5 | c.8448+54C= (n.8448+54C=) c.8403+54C= (n.8403+54C=) n.8655+54C= c.8556+54C= (n.8556+54C=) c.7461+54C= (n.7461+54C=) c.3645+54C= (n.3645+54C=) c.3198+54C= (n.3198+54C=) c.2535+54C= (n.2535+54C=) c.7050+54C= (n.7050+54C=) n.8573+54C= | |
| 5 | g.13791940G>T | CA2673271043 | DNAH5 | c.8448+54C>A (n.8448+54C>A) c.8403+54C>A (n.8403+54C>A) n.8655+54C>A c.8556+54C>A (n.8556+54C>A) c.7461+54C>A (n.7461+54C>A) c.3645+54C>A (n.3645+54C>A) c.3198+54C>A (n.3198+54C>A) c.2535+54C>A (n.2535+54C>A) c.7050+54C>A (n.7050+54C>A) n.8573+54C>A | gnomAD v4 |
| 5 | g.13791941A= | CA1528440892 | DNAH5 | c.8448+53T= (n.8448+53T=) c.8403+53T= (n.8403+53T=) n.8655+53T= c.8556+53T= (n.8556+53T=) c.7461+53T= (n.7461+53T=) c.3645+53T= (n.3645+53T=) c.3198+53T= (n.3198+53T=) c.2535+53T= (n.2535+53T=) c.7050+53T= (n.7050+53T=) n.8573+53T= | |
| 5 | g.13791941A>G | CA1528440893 | DNAH5 | c.8448+53T>C (n.8448+53T>C) c.8403+53T>C (n.8403+53T>C) n.8655+53T>C c.8556+53T>C (n.8556+53T>C) c.7461+53T>C (n.7461+53T>C) c.3645+53T>C (n.3645+53T>C) c.3198+53T>C (n.3198+53T>C) c.2535+53T>C (n.2535+53T>C) c.7050+53T>C (n.7050+53T>C) n.8573+53T>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13791941A>T | CA2673271044 | DNAH5 | c.8448+53T>A (n.8448+53T>A) c.8403+53T>A (n.8403+53T>A) n.8655+53T>A c.8556+53T>A (n.8556+53T>A) c.7461+53T>A (n.7461+53T>A) c.3645+53T>A (n.3645+53T>A) c.3198+53T>A (n.3198+53T>A) c.2535+53T>A (n.2535+53T>A) c.7050+53T>A (n.7050+53T>A) n.8573+53T>A | gnomAD v4 |
| 5 | g.13791942A= | CA1528440894 | DNAH5 | c.8448+52T= (n.8448+52T=) c.8403+52T= (n.8403+52T=) n.8655+52T= c.8556+52T= (n.8556+52T=) c.7461+52T= (n.7461+52T=) c.3645+52T= (n.3645+52T=) c.3198+52T= (n.3198+52T=) c.2535+52T= (n.2535+52T=) c.7050+52T= (n.7050+52T=) n.8573+52T= | |
| 5 | g.13791942A>C | CA1528440895 | DNAH5 | c.8448+52T>G (n.8448+52T>G) c.8403+52T>G (n.8403+52T>G) n.8655+52T>G c.8556+52T>G (n.8556+52T>G) c.7461+52T>G (n.7461+52T>G) c.3645+52T>G (n.3645+52T>G) c.3198+52T>G (n.3198+52T>G) c.2535+52T>G (n.2535+52T>G) c.7050+52T>G (n.7050+52T>G) n.8573+52T>G | dbSNP gnomAD v4 |
| 5 | g.13791942A>G | CA2673271045 | DNAH5 | c.8448+52T>C (n.8448+52T>C) c.8403+52T>C (n.8403+52T>C) n.8655+52T>C c.8556+52T>C (n.8556+52T>C) c.7461+52T>C (n.7461+52T>C) c.3645+52T>C (n.3645+52T>C) c.3198+52T>C (n.3198+52T>C) c.2535+52T>C (n.2535+52T>C) c.7050+52T>C (n.7050+52T>C) n.8573+52T>C | gnomAD v4 |
| 5 | g.13791942A>T | CA443263291 | DNAH5 | c.8448+52T>A (n.8448+52T>A) c.8403+52T>A (n.8403+52T>A) n.8655+52T>A c.8556+52T>A (n.8556+52T>A) c.7461+52T>A (n.7461+52T>A) c.3645+52T>A (n.3645+52T>A) c.3198+52T>A (n.3198+52T>A) c.2535+52T>A (n.2535+52T>A) c.7050+52T>A (n.7050+52T>A) n.8573+52T>A | |
| 5 | g.13791945T>C | CA113959862 | DNAH5 | c.8448+49A>G (n.8448+49A>G) c.8403+49A>G (n.8403+49A>G) n.8655+49A>G c.8556+49A>G (n.8556+49A>G) c.7461+49A>G (n.7461+49A>G) c.3645+49A>G (n.3645+49A>G) c.3198+49A>G (n.3198+49A>G) c.2535+49A>G (n.2535+49A>G) c.7050+49A>G (n.7050+49A>G) n.8573+49A>G | dbSNP gnomAD v4 |
| 5 | g.13791945T= | CA1528440896 | DNAH5 | c.8448+49A= (n.8448+49A=) c.8403+49A= (n.8403+49A=) n.8655+49A= c.8556+49A= (n.8556+49A=) c.7461+49A= (n.7461+49A=) c.3645+49A= (n.3645+49A=) c.3198+49A= (n.3198+49A=) c.2535+49A= (n.2535+49A=) c.7050+49A= (n.7050+49A=) n.8573+49A= | |
| 5 | g.13791946A= | CA1528440897 | DNAH5 | c.8448+48T= (n.8448+48T=) c.8403+48T= (n.8403+48T=) n.8655+48T= c.8556+48T= (n.8556+48T=) c.7461+48T= (n.7461+48T=) c.3645+48T= (n.3645+48T=) c.3198+48T= (n.3198+48T=) c.2535+48T= (n.2535+48T=) c.7050+48T= (n.7050+48T=) n.8573+48T= | |
| 5 | g.13791946A>G | CA2673271046 | DNAH5 | c.8448+48T>C (n.8448+48T>C) c.8403+48T>C (n.8403+48T>C) n.8655+48T>C c.8556+48T>C (n.8556+48T>C) c.7461+48T>C (n.7461+48T>C) c.3645+48T>C (n.3645+48T>C) c.3198+48T>C (n.3198+48T>C) c.2535+48T>C (n.2535+48T>C) c.7050+48T>C (n.7050+48T>C) n.8573+48T>C | gnomAD v4 |
| 5 | g.13791946A>T | CA804441651 | DNAH5 | c.8448+48T>A (n.8448+48T>A) c.8403+48T>A (n.8403+48T>A) n.8655+48T>A c.8556+48T>A (n.8556+48T>A) c.7461+48T>A (n.7461+48T>A) c.3645+48T>A (n.3645+48T>A) c.3198+48T>A (n.3198+48T>A) c.2535+48T>A (n.2535+48T>A) c.7050+48T>A (n.7050+48T>A) n.8573+48T>A | dbSNP gnomAD v4 |
| 5 | g.13791947T>A | CA2673271047 | DNAH5 | c.8448+47A>T (n.8448+47A>T) c.8403+47A>T (n.8403+47A>T) n.8655+47A>T c.8556+47A>T (n.8556+47A>T) c.7461+47A>T (n.7461+47A>T) c.3645+47A>T (n.3645+47A>T) c.3198+47A>T (n.3198+47A>T) c.2535+47A>T (n.2535+47A>T) c.7050+47A>T (n.7050+47A>T) n.8573+47A>T | gnomAD v4 |
| 5 | g.13791947T>C | CA3202816 | DNAH5 | c.8448+47A>G (n.8448+47A>G) c.8403+47A>G (n.8403+47A>G) n.8655+47A>G c.8556+47A>G (n.8556+47A>G) c.7461+47A>G (n.7461+47A>G) c.3645+47A>G (n.3645+47A>G) c.3198+47A>G (n.3198+47A>G) c.2535+47A>G (n.2535+47A>G) c.7050+47A>G (n.7050+47A>G) n.8573+47A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13791947T= | CA1528440898 | DNAH5 | c.8448+47A= (n.8448+47A=) c.8403+47A= (n.8403+47A=) n.8655+47A= c.8556+47A= (n.8556+47A=) c.7461+47A= (n.7461+47A=) c.3645+47A= (n.3645+47A=) c.3198+47A= (n.3198+47A=) c.2535+47A= (n.2535+47A=) c.7050+47A= (n.7050+47A=) n.8573+47A= | |
| 5 | g.13791948C>A | CA1073399332 | DNAH5 | c.8448+46G>T (n.8448+46G>T) c.8403+46G>T (n.8403+46G>T) n.8655+46G>T c.8556+46G>T (n.8556+46G>T) c.7461+46G>T (n.7461+46G>T) c.3645+46G>T (n.3645+46G>T) c.3198+46G>T (n.3198+46G>T) c.2535+46G>T (n.2535+46G>T) c.7050+46G>T (n.7050+46G>T) n.8573+46G>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13791948C= | CA1528440899 | DNAH5 | c.8448+46G= (n.8448+46G=) c.8403+46G= (n.8403+46G=) n.8655+46G= c.8556+46G= (n.8556+46G=) c.7461+46G= (n.7461+46G=) c.3645+46G= (n.3645+46G=) c.3198+46G= (n.3198+46G=) c.2535+46G= (n.2535+46G=) c.7050+46G= (n.7050+46G=) n.8573+46G= | |
| 5 | g.13791948C>T | CA2673271048 | DNAH5 | c.8448+46G>A (n.8448+46G>A) c.8403+46G>A (n.8403+46G>A) n.8655+46G>A c.8556+46G>A (n.8556+46G>A) c.7461+46G>A (n.7461+46G>A) c.3645+46G>A (n.3645+46G>A) c.3198+46G>A (n.3198+46G>A) c.2535+46G>A (n.2535+46G>A) c.7050+46G>A (n.7050+46G>A) n.8573+46G>A | gnomAD v4 |
| 5 | g.13791949A= | CA1528440900 | DNAH5 | c.8448+45T= (n.8448+45T=) c.8403+45T= (n.8403+45T=) n.8655+45T= c.8556+45T= (n.8556+45T=) c.7461+45T= (n.7461+45T=) c.3645+45T= (n.3645+45T=) c.3198+45T= (n.3198+45T=) c.2535+45T= (n.2535+45T=) c.7050+45T= (n.7050+45T=) n.8573+45T= | |
| 5 | g.13791949A>G | CA557876588 | DNAH5 | c.8448+45T>C (n.8448+45T>C) c.8403+45T>C (n.8403+45T>C) n.8655+45T>C c.8556+45T>C (n.8556+45T>C) c.7461+45T>C (n.7461+45T>C) c.3645+45T>C (n.3645+45T>C) c.3198+45T>C (n.3198+45T>C) c.2535+45T>C (n.2535+45T>C) c.7050+45T>C (n.7050+45T>C) n.8573+45T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13791950T>C | CA557876589 | DNAH5 | c.8448+44A>G (n.8448+44A>G) c.8403+44A>G (n.8403+44A>G) n.8655+44A>G c.8556+44A>G (n.8556+44A>G) c.7461+44A>G (n.7461+44A>G) c.3645+44A>G (n.3645+44A>G) c.3198+44A>G (n.3198+44A>G) c.2535+44A>G (n.2535+44A>G) c.7050+44A>G (n.7050+44A>G) n.8573+44A>G | dbSNP gnomAD v2 |
| 5 | g.13791950T= | CA1528440901 | DNAH5 | c.8448+44A= (n.8448+44A=) c.8403+44A= (n.8403+44A=) n.8655+44A= c.8556+44A= (n.8556+44A=) c.7461+44A= (n.7461+44A=) c.3645+44A= (n.3645+44A=) c.3198+44A= (n.3198+44A=) c.2535+44A= (n.2535+44A=) c.7050+44A= (n.7050+44A=) n.8573+44A= | |
| 5 | g.13791951T>G | CA3202817 | DNAH5 | c.8448+43A>C (n.8448+43A>C) c.8403+43A>C (n.8403+43A>C) n.8655+43A>C c.8556+43A>C (n.8556+43A>C) c.7461+43A>C (n.7461+43A>C) c.3645+43A>C (n.3645+43A>C) c.3198+43A>C (n.3198+43A>C) c.2535+43A>C (n.2535+43A>C) c.7050+43A>C (n.7050+43A>C) n.8573+43A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13791951T= | CA1528440902 | DNAH5 | c.8448+43A= (n.8448+43A=) c.8403+43A= (n.8403+43A=) n.8655+43A= c.8556+43A= (n.8556+43A=) c.7461+43A= (n.7461+43A=) c.3645+43A= (n.3645+43A=) c.3198+43A= (n.3198+43A=) c.2535+43A= (n.2535+43A=) c.7050+43A= (n.7050+43A=) n.8573+43A= | |
| 5 | g.13791952A>T | CA2578270176 | DNAH5 | c.8448+42T>A (n.8448+42T>A) c.8403+42T>A (n.8403+42T>A) n.8655+42T>A c.8556+42T>A (n.8556+42T>A) c.7461+42T>A (n.7461+42T>A) c.3645+42T>A (n.3645+42T>A) c.3198+42T>A (n.3198+42T>A) c.2535+42T>A (n.2535+42T>A) c.7050+42T>A (n.7050+42T>A) n.8573+42T>A | gnomAD v4 |
| 5 | g.13791954T>C | CA1528440904 | DNAH5 | c.8448+40A>G (n.8448+40A>G) c.8403+40A>G (n.8403+40A>G) n.8655+40A>G c.8556+40A>G (n.8556+40A>G) c.7461+40A>G (n.7461+40A>G) c.3645+40A>G (n.3645+40A>G) c.3198+40A>G (n.3198+40A>G) c.2535+40A>G (n.2535+40A>G) c.7050+40A>G (n.7050+40A>G) n.8573+40A>G | dbSNP gnomAD v4 |
| 5 | g.13791954T= | CA1528440903 | DNAH5 | c.8448+40A= (n.8448+40A=) c.8403+40A= (n.8403+40A=) n.8655+40A= c.8556+40A= (n.8556+40A=) c.7461+40A= (n.7461+40A=) c.3645+40A= (n.3645+40A=) c.3198+40A= (n.3198+40A=) c.2535+40A= (n.2535+40A=) c.7050+40A= (n.7050+40A=) n.8573+40A= | |
| 5 | g.13791956G>A | CA1528440906 | DNAH5 | c.8448+38C>T (n.8448+38C>T) c.8403+38C>T (n.8403+38C>T) n.8655+38C>T c.8556+38C>T (n.8556+38C>T) c.7461+38C>T (n.7461+38C>T) c.3645+38C>T (n.3645+38C>T) c.3198+38C>T (n.3198+38C>T) c.2535+38C>T (n.2535+38C>T) c.7050+38C>T (n.7050+38C>T) n.8573+38C>T | dbSNP gnomAD v4 |
| 5 | g.13791956G= | CA1528440905 | DNAH5 | c.8448+38C= (n.8448+38C=) c.8403+38C= (n.8403+38C=) n.8655+38C= c.8556+38C= (n.8556+38C=) c.7461+38C= (n.7461+38C=) c.3645+38C= (n.3645+38C=) c.3198+38C= (n.3198+38C=) c.2535+38C= (n.2535+38C=) c.7050+38C= (n.7050+38C=) n.8573+38C= | |
| 5 | g.13791957C>T | CA2673271049 | DNAH5 | c.8448+37G>A (n.8448+37G>A) c.8403+37G>A (n.8403+37G>A) n.8655+37G>A c.8556+37G>A (n.8556+37G>A) c.7461+37G>A (n.7461+37G>A) c.3645+37G>A (n.3645+37G>A) c.3198+37G>A (n.3198+37G>A) c.2535+37G>A (n.2535+37G>A) c.7050+37G>A (n.7050+37G>A) n.8573+37G>A | gnomAD v4 |
| 5 | g.13791958A= | CA1528440907 | DNAH5 | c.8448+36T= (n.8448+36T=) c.8403+36T= (n.8403+36T=) n.8655+36T= c.8556+36T= (n.8556+36T=) c.7461+36T= (n.7461+36T=) c.3645+36T= (n.3645+36T=) c.3198+36T= (n.3198+36T=) c.2535+36T= (n.2535+36T=) c.7050+36T= (n.7050+36T=) n.8573+36T= | |
| 5 | g.13791958A>C | CA557876590 | DNAH5 | c.8448+36T>G (n.8448+36T>G) c.8403+36T>G (n.8403+36T>G) n.8655+36T>G c.8556+36T>G (n.8556+36T>G) c.7461+36T>G (n.7461+36T>G) c.3645+36T>G (n.3645+36T>G) c.3198+36T>G (n.3198+36T>G) c.2535+36T>G (n.2535+36T>G) c.7050+36T>G (n.7050+36T>G) n.8573+36T>G | dbSNP gnomAD v2 |
| 5 | g.13791960T>A | CA3202818 | DNAH5 | c.8448+34A>T (n.8448+34A>T) c.8403+34A>T (n.8403+34A>T) n.8655+34A>T c.8556+34A>T (n.8556+34A>T) c.7461+34A>T (n.7461+34A>T) c.3645+34A>T (n.3645+34A>T) c.3198+34A>T (n.3198+34A>T) c.2535+34A>T (n.2535+34A>T) c.7050+34A>T (n.7050+34A>T) n.8573+34A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13791960T>C | CA113959898 | DNAH5 | c.8448+34A>G (n.8448+34A>G) c.8403+34A>G (n.8403+34A>G) n.8655+34A>G c.8556+34A>G (n.8556+34A>G) c.7461+34A>G (n.7461+34A>G) c.3645+34A>G (n.3645+34A>G) c.3198+34A>G (n.3198+34A>G) c.2535+34A>G (n.2535+34A>G) c.7050+34A>G (n.7050+34A>G) n.8573+34A>G | dbSNP gnomAD v4 |
| 5 | g.13791960T>G | CA2673271050 | DNAH5 | c.8448+34A>C (n.8448+34A>C) c.8403+34A>C (n.8403+34A>C) n.8655+34A>C c.8556+34A>C (n.8556+34A>C) c.7461+34A>C (n.7461+34A>C) c.3645+34A>C (n.3645+34A>C) c.3198+34A>C (n.3198+34A>C) c.2535+34A>C (n.2535+34A>C) c.7050+34A>C (n.7050+34A>C) n.8573+34A>C | gnomAD v4 |
| 5 | g.13791960T= | CA1528440908 | DNAH5 | c.8448+34A= (n.8448+34A=) c.8403+34A= (n.8403+34A=) n.8655+34A= c.8556+34A= (n.8556+34A=) c.7461+34A= (n.7461+34A=) c.3645+34A= (n.3645+34A=) c.3198+34A= (n.3198+34A=) c.2535+34A= (n.2535+34A=) c.7050+34A= (n.7050+34A=) n.8573+34A= | |
| 5 | g.13791962T>G | CA2673271051 | DNAH5 | c.8448+32A>C (n.8448+32A>C) c.8403+32A>C (n.8403+32A>C) n.8655+32A>C c.8556+32A>C (n.8556+32A>C) c.7461+32A>C (n.7461+32A>C) c.3645+32A>C (n.3645+32A>C) c.3198+32A>C (n.3198+32A>C) c.2535+32A>C (n.2535+32A>C) c.7050+32A>C (n.7050+32A>C) n.8573+32A>C | gnomAD v4 |
| 5 | g.13791964A= | CA1528440911 | DNAH5 | c.8448+30T= (n.8448+30T=) c.8403+30T= (n.8403+30T=) n.8655+30T= c.8556+30T= (n.8556+30T=) c.7461+30T= (n.7461+30T=) c.3645+30T= (n.3645+30T=) c.3198+30T= (n.3198+30T=) c.2535+30T= (n.2535+30T=) c.7050+30T= (n.7050+30T=) n.8573+30T= | |
| 5 | g.13791964A>C | CA1528440909 | DNAH5 | c.8448+30T>G (n.8448+30T>G) c.8403+30T>G (n.8403+30T>G) n.8655+30T>G c.8556+30T>G (n.8556+30T>G) c.7461+30T>G (n.7461+30T>G) c.3645+30T>G (n.3645+30T>G) c.3198+30T>G (n.3198+30T>G) c.2535+30T>G (n.2535+30T>G) c.7050+30T>G (n.7050+30T>G) n.8573+30T>G | dbSNP |
| 5 | g.13791964A>T | CA2673271052 | DNAH5 | c.8448+30T>A (n.8448+30T>A) c.8403+30T>A (n.8403+30T>A) n.8655+30T>A c.8556+30T>A (n.8556+30T>A) c.7461+30T>A (n.7461+30T>A) c.3645+30T>A (n.3645+30T>A) c.3198+30T>A (n.3198+30T>A) c.2535+30T>A (n.2535+30T>A) c.7050+30T>A (n.7050+30T>A) n.8573+30T>A | gnomAD v4 |
| 5 | g.13791964_13791968delinsATTTG | CA1528440910 | DNAH5 | c.8448+26_8448+30delinsCAAAT (n.8448+26_8448+30delinsCAAAT) c.8403+26_8403+30delinsCAAAT (n.8403+26_8403+30delinsCAAAT) n.8655+26_8655+30delinsCAAAT c.8556+26_8556+30delinsCAAAT (n.8556+26_8556+30delinsCAAAT) c.7461+26_7461+30delinsCAAAT (n.7461+26_7461+30delinsCAAAT) c.3645+26_3645+30delinsCAAAT (n.3645+26_3645+30delinsCAAAT) c.3198+26_3198+30delinsCAAAT (n.3198+26_3198+30delinsCAAAT) c.2535+26_2535+30delinsCAAAT (n.2535+26_2535+30delinsCAAAT) c.7050+26_7050+30delinsCAAAT (n.7050+26_7050+30delinsCAAAT) n.8573+26_8573+30delinsCAAAT | |
| 5 | g.13791965T>C | CA2673271053 | DNAH5 | c.8448+29A>G (n.8448+29A>G) c.8403+29A>G (n.8403+29A>G) n.8655+29A>G c.8556+29A>G (n.8556+29A>G) c.7461+29A>G (n.7461+29A>G) c.3645+29A>G (n.3645+29A>G) c.3198+29A>G (n.3198+29A>G) c.2535+29A>G (n.2535+29A>G) c.7050+29A>G (n.7050+29A>G) n.8573+29A>G | gnomAD v4 |
| 5 | g.13791965T>G | CA2673271054 | DNAH5 | c.8448+29A>C (n.8448+29A>C) c.8403+29A>C (n.8403+29A>C) n.8655+29A>C c.8556+29A>C (n.8556+29A>C) c.7461+29A>C (n.7461+29A>C) c.3645+29A>C (n.3645+29A>C) c.3198+29A>C (n.3198+29A>C) c.2535+29A>C (n.2535+29A>C) c.7050+29A>C (n.7050+29A>C) n.8573+29A>C | gnomAD v4 |
| 5 | g.13791968_13791971del | CA1073399338 | DNAH5 | c.8448+26_8448+29del (n.8448+26_8448+29del) c.8403+26_8403+29del (n.8403+26_8403+29del) n.8655+26_8655+29del c.8556+26_8556+29del (n.8556+26_8556+29del) c.7461+26_7461+29del (n.7461+26_7461+29del) c.3645+26_3645+29del (n.3645+26_3645+29del) c.3198+26_3198+29del (n.3198+26_3198+29del) c.2535+26_2535+29del (n.2535+26_2535+29del) c.7050+26_7050+29del (n.7050+26_7050+29del) n.8573+26_8573+29del | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13791966T>C | CA3202819 | DNAH5 | c.8448+28A>G (n.8448+28A>G) c.8403+28A>G (n.8403+28A>G) n.8655+28A>G c.8556+28A>G (n.8556+28A>G) c.7461+28A>G (n.7461+28A>G) c.3645+28A>G (n.3645+28A>G) c.3198+28A>G (n.3198+28A>G) c.2535+28A>G (n.2535+28A>G) c.7050+28A>G (n.7050+28A>G) n.8573+28A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13791966T= | CA1528440912 | DNAH5 | c.8448+28A= (n.8448+28A=) c.8403+28A= (n.8403+28A=) n.8655+28A= c.8556+28A= (n.8556+28A=) c.7461+28A= (n.7461+28A=) c.3645+28A= (n.3645+28A=) c.3198+28A= (n.3198+28A=) c.2535+28A= (n.2535+28A=) c.7050+28A= (n.7050+28A=) n.8573+28A= | |
| 5 | g.13791967T>G | CA3202820 | DNAH5 | c.8448+27A>C (n.8448+27A>C) c.8403+27A>C (n.8403+27A>C) n.8655+27A>C c.8556+27A>C (n.8556+27A>C) c.7461+27A>C (n.7461+27A>C) c.3645+27A>C (n.3645+27A>C) c.3198+27A>C (n.3198+27A>C) c.2535+27A>C (n.2535+27A>C) c.7050+27A>C (n.7050+27A>C) n.8573+27A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13791967T= | CA1528440913 | DNAH5 | c.8448+27A= (n.8448+27A=) c.8403+27A= (n.8403+27A=) n.8655+27A= c.8556+27A= (n.8556+27A=) c.7461+27A= (n.7461+27A=) c.3645+27A= (n.3645+27A=) c.3198+27A= (n.3198+27A=) c.2535+27A= (n.2535+27A=) c.7050+27A= (n.7050+27A=) n.8573+27A= | |
| 5 | g.13791968G>A | CA3202821 | DNAH5 | c.8448+26C>T (n.8448+26C>T) c.8403+26C>T (n.8403+26C>T) n.8655+26C>T c.8556+26C>T (n.8556+26C>T) c.7461+26C>T (n.7461+26C>T) c.3645+26C>T (n.3645+26C>T) c.3198+26C>T (n.3198+26C>T) c.2535+26C>T (n.2535+26C>T) c.7050+26C>T (n.7050+26C>T) n.8573+26C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13791968G= | CA1528440914 | DNAH5 | c.8448+26C= (n.8448+26C=) c.8403+26C= (n.8403+26C=) n.8655+26C= c.8556+26C= (n.8556+26C=) c.7461+26C= (n.7461+26C=) c.3645+26C= (n.3645+26C=) c.3198+26C= (n.3198+26C=) c.2535+26C= (n.2535+26C=) c.7050+26C= (n.7050+26C=) n.8573+26C= | |
| 5 | g.13791968G>T | CA2673271055 | DNAH5 | c.8448+26C>A (n.8448+26C>A) c.8403+26C>A (n.8403+26C>A) n.8655+26C>A c.8556+26C>A (n.8556+26C>A) c.7461+26C>A (n.7461+26C>A) c.3645+26C>A (n.3645+26C>A) c.3198+26C>A (n.3198+26C>A) c.2535+26C>A (n.2535+26C>A) c.7050+26C>A (n.7050+26C>A) n.8573+26C>A | gnomAD v4 |
| 5 | g.13791969T>C | CA3202822 | DNAH5 | c.8448+25A>G (n.8448+25A>G) c.8403+25A>G (n.8403+25A>G) n.8655+25A>G c.8556+25A>G (n.8556+25A>G) c.7461+25A>G (n.7461+25A>G) c.3645+25A>G (n.3645+25A>G) c.3198+25A>G (n.3198+25A>G) c.2535+25A>G (n.2535+25A>G) c.7050+25A>G (n.7050+25A>G) n.8573+25A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13791969T= | CA1528440915 | DNAH5 | c.8448+25A= (n.8448+25A=) c.8403+25A= (n.8403+25A=) n.8655+25A= c.8556+25A= (n.8556+25A=) c.7461+25A= (n.7461+25A=) c.3645+25A= (n.3645+25A=) c.3198+25A= (n.3198+25A=) c.2535+25A= (n.2535+25A=) c.7050+25A= (n.7050+25A=) n.8573+25A= | |
| 5 | g.13791971T>C | CA1528440917 | DNAH5 | c.8448+23A>G (n.8448+23A>G) c.8403+23A>G (n.8403+23A>G) n.8655+23A>G c.8556+23A>G (n.8556+23A>G) c.7461+23A>G (n.7461+23A>G) c.3645+23A>G (n.3645+23A>G) c.3198+23A>G (n.3198+23A>G) c.2535+23A>G (n.2535+23A>G) c.7050+23A>G (n.7050+23A>G) n.8573+23A>G | dbSNP |
| 5 | g.13791971T>G | CA113959924 | DNAH5 | c.8448+23A>C (n.8448+23A>C) c.8403+23A>C (n.8403+23A>C) n.8655+23A>C c.8556+23A>C (n.8556+23A>C) c.7461+23A>C (n.7461+23A>C) c.3645+23A>C (n.3645+23A>C) c.3198+23A>C (n.3198+23A>C) c.2535+23A>C (n.2535+23A>C) c.7050+23A>C (n.7050+23A>C) n.8573+23A>C | dbSNP |
| 5 | g.13791971T= | CA1528440916 | DNAH5 | c.8448+23A= (n.8448+23A=) c.8403+23A= (n.8403+23A=) n.8655+23A= c.8556+23A= (n.8556+23A=) c.7461+23A= (n.7461+23A=) c.3645+23A= (n.3645+23A=) c.3198+23A= (n.3198+23A=) c.2535+23A= (n.2535+23A=) c.7050+23A= (n.7050+23A=) n.8573+23A= | |
| 5 | g.13791973T>C | CA2673271056 | DNAH5 | c.8448+21A>G (n.8448+21A>G) c.8403+21A>G (n.8403+21A>G) n.8655+21A>G c.8556+21A>G (n.8556+21A>G) c.7461+21A>G (n.7461+21A>G) c.3645+21A>G (n.3645+21A>G) c.3198+21A>G (n.3198+21A>G) c.2535+21A>G (n.2535+21A>G) c.7050+21A>G (n.7050+21A>G) n.8573+21A>G | gnomAD v4 |
| 5 | g.13791978C>A | CA2673271057 | DNAH5 | c.8448+16G>T (n.8448+16G>T) c.8403+16G>T (n.8403+16G>T) n.8655+16G>T c.8556+16G>T (n.8556+16G>T) c.7461+16G>T (n.7461+16G>T) c.3645+16G>T (n.3645+16G>T) c.3198+16G>T (n.3198+16G>T) c.2535+16G>T (n.2535+16G>T) c.7050+16G>T (n.7050+16G>T) n.8573+16G>T | gnomAD v4 |
| 5 | g.13791979T>C | CA3202823 | DNAH5 | c.8448+15A>G (n.8448+15A>G) c.8403+15A>G (n.8403+15A>G) n.8655+15A>G c.8556+15A>G (n.8556+15A>G) c.7461+15A>G (n.7461+15A>G) c.3645+15A>G (n.3645+15A>G) c.3198+15A>G (n.3198+15A>G) c.2535+15A>G (n.2535+15A>G) c.7050+15A>G (n.7050+15A>G) n.8573+15A>G | ClinVar dbSNP ExAC gnomAD v4 |
| 5 | g.13791979T= | CA1528440918 | DNAH5 | c.8448+15A= (n.8448+15A=) c.8403+15A= (n.8403+15A=) n.8655+15A= c.8556+15A= (n.8556+15A=) c.7461+15A= (n.7461+15A=) c.3645+15A= (n.3645+15A=) c.3198+15A= (n.3198+15A=) c.2535+15A= (n.2535+15A=) c.7050+15A= (n.7050+15A=) n.8573+15A= | |
| 5 | g.13791982A= | CA1528440919 | DNAH5 | c.8448+12T= (n.8448+12T=) c.8403+12T= (n.8403+12T=) n.8655+12T= c.8556+12T= (n.8556+12T=) c.7461+12T= (n.7461+12T=) c.3645+12T= (n.3645+12T=) c.3198+12T= (n.3198+12T=) c.2535+12T= (n.2535+12T=) c.7050+12T= (n.7050+12T=) n.8573+12T= | |
| 5 | g.13791982A>C | CA2673271058 | DNAH5 | c.8448+12T>G (n.8448+12T>G) c.8403+12T>G (n.8403+12T>G) n.8655+12T>G c.8556+12T>G (n.8556+12T>G) c.7461+12T>G (n.7461+12T>G) c.3645+12T>G (n.3645+12T>G) c.3198+12T>G (n.3198+12T>G) c.2535+12T>G (n.2535+12T>G) c.7050+12T>G (n.7050+12T>G) n.8573+12T>G | gnomAD v4 |
| 5 | g.13791982A>G | CA557876591 | DNAH5 | c.8448+12T>C (n.8448+12T>C) c.8403+12T>C (n.8403+12T>C) n.8655+12T>C c.8556+12T>C (n.8556+12T>C) c.7461+12T>C (n.7461+12T>C) c.3645+12T>C (n.3645+12T>C) c.3198+12T>C (n.3198+12T>C) c.2535+12T>C (n.2535+12T>C) c.7050+12T>C (n.7050+12T>C) n.8573+12T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13791983G>A | CA3202824 | DNAH5 | c.8448+11C>T (n.8448+11C>T) c.8403+11C>T (n.8403+11C>T) n.8655+11C>T c.8556+11C>T (n.8556+11C>T) c.7461+11C>T (n.7461+11C>T) c.3645+11C>T (n.3645+11C>T) c.3198+11C>T (n.3198+11C>T) c.2535+11C>T (n.2535+11C>T) c.7050+11C>T (n.7050+11C>T) n.8573+11C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13791983G= | CA1528440920 | DNAH5 | c.8448+11C= (n.8448+11C=) c.8403+11C= (n.8403+11C=) n.8655+11C= c.8556+11C= (n.8556+11C=) c.7461+11C= (n.7461+11C=) c.3645+11C= (n.3645+11C=) c.3198+11C= (n.3198+11C=) c.2535+11C= (n.2535+11C=) c.7050+11C= (n.7050+11C=) n.8573+11C= | |
| 5 | g.13791983G>T | CA2673271059 | DNAH5 | c.8448+11C>A (n.8448+11C>A) c.8403+11C>A (n.8403+11C>A) n.8655+11C>A c.8556+11C>A (n.8556+11C>A) c.7461+11C>A (n.7461+11C>A) c.3645+11C>A (n.3645+11C>A) c.3198+11C>A (n.3198+11C>A) c.2535+11C>A (n.2535+11C>A) c.7050+11C>A (n.7050+11C>A) n.8573+11C>A | gnomAD v4 |
| 5 | g.13791984T>C | CA2499217616 | DNAH5 | c.8448+10A>G (n.8448+10A>G) c.8403+10A>G (n.8403+10A>G) n.8655+10A>G c.8556+10A>G (n.8556+10A>G) c.7461+10A>G (n.7461+10A>G) c.3645+10A>G (n.3645+10A>G) c.3198+10A>G (n.3198+10A>G) c.2535+10A>G (n.2535+10A>G) c.7050+10A>G (n.7050+10A>G) n.8573+10A>G | ClinVar dbSNP |
| 5 | g.13791985G>A | CA2673271060 | DNAH5 | c.8448+9C>T (n.8448+9C>T) c.8403+9C>T (n.8403+9C>T) n.8655+9C>T c.8556+9C>T (n.8556+9C>T) c.7461+9C>T (n.7461+9C>T) c.3645+9C>T (n.3645+9C>T) c.3198+9C>T (n.3198+9C>T) c.2535+9C>T (n.2535+9C>T) c.7050+9C>T (n.7050+9C>T) n.8573+9C>T | gnomAD v4 |
| 5 | g.13791985G>T | CA2673271061 | DNAH5 | c.8448+9C>A (n.8448+9C>A) c.8403+9C>A (n.8403+9C>A) n.8655+9C>A c.8556+9C>A (n.8556+9C>A) c.7461+9C>A (n.7461+9C>A) c.3645+9C>A (n.3645+9C>A) c.3198+9C>A (n.3198+9C>A) c.2535+9C>A (n.2535+9C>A) c.7050+9C>A (n.7050+9C>A) n.8573+9C>A | gnomAD v4 |
| 5 | g.13791986T>C | CA557876592 | DNAH5 | c.8448+8A>G (n.8448+8A>G) c.8403+8A>G (n.8403+8A>G) n.8655+8A>G c.8556+8A>G (n.8556+8A>G) c.7461+8A>G (n.7461+8A>G) c.3645+8A>G (n.3645+8A>G) c.3198+8A>G (n.3198+8A>G) c.2535+8A>G (n.2535+8A>G) c.7050+8A>G (n.7050+8A>G) n.8573+8A>G | ClinVar dbSNP gnomAD v2 |
| 5 | g.13791986T>G | CA2765334521 | DNAH5 | c.8448+8A>C (n.8448+8A>C) c.8403+8A>C (n.8403+8A>C) n.8655+8A>C c.8556+8A>C (n.8556+8A>C) c.7461+8A>C (n.7461+8A>C) c.3645+8A>C (n.3645+8A>C) c.3198+8A>C (n.3198+8A>C) c.2535+8A>C (n.2535+8A>C) c.7050+8A>C (n.7050+8A>C) n.8573+8A>C | |
| 5 | g.13791986T= | CA1528440921 | DNAH5 | c.8448+8A= (n.8448+8A=) c.8403+8A= (n.8403+8A=) n.8655+8A= c.8556+8A= (n.8556+8A=) c.7461+8A= (n.7461+8A=) c.3645+8A= (n.3645+8A=) c.3198+8A= (n.3198+8A=) c.2535+8A= (n.2535+8A=) c.7050+8A= (n.7050+8A=) n.8573+8A= | |
| 5 | g.13791987C>T | CA2673271062 | DNAH5 | c.8448+7G>A (n.8448+7G>A) c.8403+7G>A (n.8403+7G>A) n.8655+7G>A c.8556+7G>A (n.8556+7G>A) c.7461+7G>A (n.7461+7G>A) c.3645+7G>A (n.3645+7G>A) c.3198+7G>A (n.3198+7G>A) c.2535+7G>A (n.2535+7G>A) c.7050+7G>A (n.7050+7G>A) n.8573+7G>A | gnomAD v4 |
| 5 | g.13791988A>T | CA2673271063 | DNAH5 | c.8448+6T>A (n.8448+6T>A) c.8403+6T>A (n.8403+6T>A) n.8655+6T>A c.8556+6T>A (n.8556+6T>A) c.7461+6T>A (n.7461+6T>A) c.3645+6T>A (n.3645+6T>A) c.3198+6T>A (n.3198+6T>A) c.2535+6T>A (n.2535+6T>A) c.7050+6T>A (n.7050+6T>A) n.8573+6T>A | gnomAD v4 |
| 5 | g.13791990T>C | CA2673271064 | DNAH5 | c.8448+4A>G (n.8448+4A>G) c.8403+4A>G (n.8403+4A>G) n.8655+4A>G c.8556+4A>G (n.8556+4A>G) c.7461+4A>G (n.7461+4A>G) c.3645+4A>G (n.3645+4A>G) c.3198+4A>G (n.3198+4A>G) c.2535+4A>G (n.2535+4A>G) c.7050+4A>G (n.7050+4A>G) n.8573+4A>G | dbSNP gnomAD v4 |
| 5 | g.13791991T>C | CA1528440923 | DNAH5 | c.8448+3A>G (n.8448+3A>G) c.8403+3A>G (n.8403+3A>G) n.8655+3A>G c.8556+3A>G (n.8556+3A>G) c.7461+3A>G (n.7461+3A>G) c.3645+3A>G (n.3645+3A>G) c.3198+3A>G (n.3198+3A>G) c.2535+3A>G (n.2535+3A>G) c.7050+3A>G (n.7050+3A>G) n.8573+3A>G | dbSNP |
| 5 | g.13791991T>G | CA2673271065 | DNAH5 | c.8448+3A>C (n.8448+3A>C) c.8403+3A>C (n.8403+3A>C) n.8655+3A>C c.8556+3A>C (n.8556+3A>C) c.7461+3A>C (n.7461+3A>C) c.3645+3A>C (n.3645+3A>C) c.3198+3A>C (n.3198+3A>C) c.2535+3A>C (n.2535+3A>C) c.7050+3A>C (n.7050+3A>C) n.8573+3A>C | gnomAD v4 |
| 5 | g.13791991T= | CA1528440922 | DNAH5 | c.8448+3A= (n.8448+3A=) c.8403+3A= (n.8403+3A=) n.8655+3A= c.8556+3A= (n.8556+3A=) c.7461+3A= (n.7461+3A=) c.3645+3A= (n.3645+3A=) c.3198+3A= (n.3198+3A=) c.2535+3A= (n.2535+3A=) c.7050+3A= (n.7050+3A=) n.8573+3A= | |
| 5 | g.13791992A>C | CA359218676 | DNAH5 | c.8448+2T>G (n.8448+2T>G) c.8403+2T>G (n.8403+2T>G) n.8655+2T>G c.8556+2T>G (n.8556+2T>G) c.7461+2T>G (n.7461+2T>G) c.3645+2T>G (n.3645+2T>G) c.3198+2T>G (n.3198+2T>G) c.2535+2T>G (n.2535+2T>G) c.7050+2T>G (n.7050+2T>G) n.8573+2T>G | |
| 5 | g.13791992A>G | CA359218678 | DNAH5 | c.8448+2T>C (n.8448+2T>C) c.8403+2T>C (n.8403+2T>C) n.8655+2T>C c.8556+2T>C (n.8556+2T>C) c.7461+2T>C (n.7461+2T>C) c.3645+2T>C (n.3645+2T>C) c.3198+2T>C (n.3198+2T>C) c.2535+2T>C (n.2535+2T>C) c.7050+2T>C (n.7050+2T>C) n.8573+2T>C | |
| 5 | g.13791992A>T | CA359218680 | DNAH5 | c.8448+2T>A (n.8448+2T>A) c.8403+2T>A (n.8403+2T>A) n.8655+2T>A c.8556+2T>A (n.8556+2T>A) c.7461+2T>A (n.7461+2T>A) c.3645+2T>A (n.3645+2T>A) c.3198+2T>A (n.3198+2T>A) c.2535+2T>A (n.2535+2T>A) c.7050+2T>A (n.7050+2T>A) n.8573+2T>A | |
| 5 | g.13791993C>A | CA359218682 | DNAH5 | c.8448+1G>T (n.8448+1G>T) c.8403+1G>T (n.8403+1G>T) n.8655+1G>T c.8556+1G>T (n.8556+1G>T) c.7461+1G>T (n.7461+1G>T) c.3645+1G>T (n.3645+1G>T) c.3198+1G>T (n.3198+1G>T) c.2535+1G>T (n.2535+1G>T) c.7050+1G>T (n.7050+1G>T) n.8573+1G>T | |
| 5 | g.13791993C>G | CA359218684 | DNAH5 | c.8448+1G>C (n.8448+1G>C) c.8403+1G>C (n.8403+1G>C) n.8655+1G>C c.8556+1G>C (n.8556+1G>C) c.7461+1G>C (n.7461+1G>C) c.3645+1G>C (n.3645+1G>C) c.3198+1G>C (n.3198+1G>C) c.2535+1G>C (n.2535+1G>C) c.7050+1G>C (n.7050+1G>C) n.8573+1G>C | |
| 5 | g.13791993C>T | CA359218685 | DNAH5 | c.8448+1G>A (n.8448+1G>A) c.8403+1G>A (n.8403+1G>A) n.8655+1G>A c.8556+1G>A (n.8556+1G>A) c.7461+1G>A (n.7461+1G>A) c.3645+1G>A (n.3645+1G>A) c.3198+1G>A (n.3198+1G>A) c.2535+1G>A (n.2535+1G>A) c.7050+1G>A (n.7050+1G>A) n.8573+1G>A | ClinVar dbSNP |
| 5 | g.13791994A>C | CA359218699 | DNAH5 | c.8448T>G (p.Asn2816Lys) c.8403T>G (p.Asn2801Lys) n.8655T>G c.8556T>G (p.Asn2852Lys) c.7461T>G (p.Asn2487Lys) c.3645T>G (p.Asn1215Lys) c.3198T>G (p.Asn1066Lys) c.2535T>G (p.Asn845Lys) c.7050T>G (p.Asn2350Lys) n.8573T>G | |
| 5 | g.13791994A>G | CA443263300 | DNAH5 | c.8448T>C (p.Asn2816=) c.8403T>C (p.Asn2801=) n.8655T>C c.8556T>C (p.Asn2852=) c.7461T>C (p.Asn2487=) c.3645T>C (p.Asn1215=) c.3198T>C (p.Asn1066=) c.2535T>C (p.Asn845=) c.7050T>C (p.Asn2350=) n.8573T>C | |
| 5 | g.13791994A>T | CA359218687 | DNAH5 | c.8448T>A (p.Asn2816Lys) c.8403T>A (p.Asn2801Lys) n.8655T>A c.8556T>A (p.Asn2852Lys) c.7461T>A (p.Asn2487Lys) c.3645T>A (p.Asn1215Lys) c.3198T>A (p.Asn1066Lys) c.2535T>A (p.Asn845Lys) c.7050T>A (p.Asn2350Lys) n.8573T>A | |
| 5 | g.13791994_13792002delinsATTTGGTTC | CA1528440924 | DNAH5 | c.8440_8448delinsGAACCAAAT (p.Glu2814=) c.8395_8403delinsGAACCAAAT (p.Glu2799=) n.8647_8655delinsGAACCAAAT c.8548_8556delinsGAACCAAAT (p.Glu2850=) c.7453_7461delinsGAACCAAAT (p.Glu2485=) c.3637_3645delinsGAACCAAAT (p.Glu1213=) c.3190_3198delinsGAACCAAAT (p.Glu1064=) c.2527_2535delinsGAACCAAAT (p.Glu843=) c.7042_7050delinsGAACCAAAT (p.Glu2348=) n.8565_8573delinsGAACCAAAT | |
| 5 | g.13791995T>A | CA359218701 | DNAH5 | c.8447A>T (p.Asn2816Ile) c.8402A>T (p.Asn2801Ile) n.8654A>T c.8555A>T (p.Asn2852Ile) c.7460A>T (p.Asn2487Ile) c.3644A>T (p.Asn1215Ile) c.3197A>T (p.Asn1066Ile) c.2534A>T (p.Asn845Ile) c.7049A>T (p.Asn2350Ile) n.8572A>T | |
| 5 | g.13791995T>C | CA359218702 | DNAH5 | c.8447A>G (p.Asn2816Ser) c.8402A>G (p.Asn2801Ser) n.8654A>G c.8555A>G (p.Asn2852Ser) c.7460A>G (p.Asn2487Ser) c.3644A>G (p.Asn1215Ser) c.3197A>G (p.Asn1066Ser) c.2534A>G (p.Asn845Ser) c.7049A>G (p.Asn2350Ser) n.8572A>G | |
| 5 | g.13791995T>G | CA359218703 | DNAH5 | c.8447A>C (p.Asn2816Thr) c.8402A>C (p.Asn2801Thr) n.8654A>C c.8555A>C (p.Asn2852Thr) c.7460A>C (p.Asn2487Thr) c.3644A>C (p.Asn1215Thr) c.3197A>C (p.Asn1066Thr) c.2534A>C (p.Asn845Thr) c.7049A>C (p.Asn2350Thr) n.8572A>C | |
| 5 | g.13791995_13792002del | CA3202825 | DNAH5 | c.8440_8447del (p.Glu2814Ter) c.8395_8402del (p.Glu2799Ter) n.8647_8654del c.8548_8555del (p.Glu2850Ter) c.7453_7460del (p.Glu2485Ter) c.3637_3644del (p.Glu1213Ter) c.3190_3197del (p.Glu1064Ter) c.2527_2534del (p.Glu843Ter) c.7042_7049del (p.Glu2348Ter) n.8565_8572del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13791996T>A | CA359218709 | DNAH5 | c.8446A>T (p.Asn2816Tyr) c.8401A>T (p.Asn2801Tyr) n.8653A>T c.8554A>T (p.Asn2852Tyr) c.7459A>T (p.Asn2487Tyr) c.3643A>T (p.Asn1215Tyr) c.3196A>T (p.Asn1066Tyr) c.2533A>T (p.Asn845Tyr) c.7048A>T (p.Asn2350Tyr) n.8571A>T | |
| 5 | g.13791996T>C | CA359218705 | DNAH5 | c.8446A>G (p.Asn2816Asp) c.8401A>G (p.Asn2801Asp) n.8653A>G c.8554A>G (p.Asn2852Asp) c.7459A>G (p.Asn2487Asp) c.3643A>G (p.Asn1215Asp) c.3196A>G (p.Asn1066Asp) c.2533A>G (p.Asn845Asp) c.7048A>G (p.Asn2350Asp) n.8571A>G | |
| 5 | g.13791996T>G | CA359218707 | DNAH5 | c.8446A>C (p.Asn2816His) c.8401A>C (p.Asn2801His) n.8653A>C c.8554A>C (p.Asn2852His) c.7459A>C (p.Asn2487His) c.3643A>C (p.Asn1215His) c.3196A>C (p.Asn1066His) c.2533A>C (p.Asn845His) c.7048A>C (p.Asn2350His) n.8571A>C | |
| 5 | g.13791997T>A | CA443263305 | DNAH5 | c.8445A>T (p.Pro2815=) c.8400A>T (p.Pro2800=) n.8652A>T c.8553A>T (p.Pro2851=) c.7458A>T (p.Pro2486=) c.3642A>T (p.Pro1214=) c.3195A>T (p.Pro1065=) c.2532A>T (p.Pro844=) c.7047A>T (p.Pro2349=) n.8570A>T | |
| 5 | g.13791997T>C | CA443263306 | DNAH5 | c.8445A>G (p.Pro2815=) c.8400A>G (p.Pro2800=) n.8652A>G c.8553A>G (p.Pro2851=) c.7458A>G (p.Pro2486=) c.3642A>G (p.Pro1214=) c.3195A>G (p.Pro1065=) c.2532A>G (p.Pro844=) c.7047A>G (p.Pro2349=) n.8570A>G | gnomAD v4 |
| 5 | g.13791997T>G | CA443263307 | DNAH5 | c.8445A>C (p.Pro2815=) c.8400A>C (p.Pro2800=) n.8652A>C c.8553A>C (p.Pro2851=) c.7458A>C (p.Pro2486=) c.3642A>C (p.Pro1214=) c.3195A>C (p.Pro1065=) c.2532A>C (p.Pro844=) c.7047A>C (p.Pro2349=) n.8570A>C | |
| 5 | g.13791998G>A | CA359218711 | DNAH5 | c.8444C>T (p.Pro2815Leu) c.8399C>T (p.Pro2800Leu) n.8651C>T c.8552C>T (p.Pro2851Leu) c.7457C>T (p.Pro2486Leu) c.3641C>T (p.Pro1214Leu) c.3194C>T (p.Pro1065Leu) c.2531C>T (p.Pro844Leu) c.7046C>T (p.Pro2349Leu) n.8569C>T | |
| 5 | g.13791998G>C | CA359218712 | DNAH5 | c.8444C>G (p.Pro2815Arg) c.8399C>G (p.Pro2800Arg) n.8651C>G c.8552C>G (p.Pro2851Arg) c.7457C>G (p.Pro2486Arg) c.3641C>G (p.Pro1214Arg) c.3194C>G (p.Pro1065Arg) c.2531C>G (p.Pro844Arg) c.7046C>G (p.Pro2349Arg) n.8569C>G | gnomAD v4 |
| 5 | g.13791998G>T | CA359218714 | DNAH5 | c.8444C>A (p.Pro2815Gln) c.8399C>A (p.Pro2800Gln) n.8651C>A c.8552C>A (p.Pro2851Gln) c.7457C>A (p.Pro2486Gln) c.3641C>A (p.Pro1214Gln) c.3194C>A (p.Pro1065Gln) c.2531C>A (p.Pro844Gln) c.7046C>A (p.Pro2349Gln) n.8569C>A | gnomAD v4 |
| 5 | g.13791999G>A | CA359218715 | DNAH5 | c.8443C>T (p.Pro2815Ser) c.8398C>T (p.Pro2800Ser) n.8650C>T c.8551C>T (p.Pro2851Ser) c.7456C>T (p.Pro2486Ser) c.3640C>T (p.Pro1214Ser) c.3193C>T (p.Pro1065Ser) c.2530C>T (p.Pro844Ser) c.7045C>T (p.Pro2349Ser) n.8568C>T | gnomAD v4 |
| 5 | g.13791999G>C | CA359218717 | DNAH5 | c.8443C>G (p.Pro2815Ala) c.8398C>G (p.Pro2800Ala) n.8650C>G c.8551C>G (p.Pro2851Ala) c.7456C>G (p.Pro2486Ala) c.3640C>G (p.Pro1214Ala) c.3193C>G (p.Pro1065Ala) c.2530C>G (p.Pro844Ala) c.7045C>G (p.Pro2349Ala) n.8568C>G | |
| 5 | g.13791999G>T | CA359218719 | DNAH5 | c.8443C>A (p.Pro2815Thr) c.8398C>A (p.Pro2800Thr) n.8650C>A c.8551C>A (p.Pro2851Thr) c.7456C>A (p.Pro2486Thr) c.3640C>A (p.Pro1214Thr) c.3193C>A (p.Pro1065Thr) c.2530C>A (p.Pro844Thr) c.7045C>A (p.Pro2349Thr) n.8568C>A | |
| 5 | g.13792000T>A | CA359218720 | DNAH5 | c.8442A>T (p.Glu2814Asp) c.8397A>T (p.Glu2799Asp) n.8649A>T c.8550A>T (p.Glu2850Asp) c.7455A>T (p.Glu2485Asp) c.3639A>T (p.Glu1213Asp) c.3192A>T (p.Glu1064Asp) c.2529A>T (p.Glu843Asp) c.7044A>T (p.Glu2348Asp) n.8567A>T | |
| 5 | g.13792000T>C | CA443263314 | DNAH5 | c.8442A>G (p.Glu2814=) c.8397A>G (p.Glu2799=) n.8649A>G c.8550A>G (p.Glu2850=) c.7455A>G (p.Glu2485=) c.3639A>G (p.Glu1213=) c.3192A>G (p.Glu1064=) c.2529A>G (p.Glu843=) c.7044A>G (p.Glu2348=) n.8567A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13792000T>G | CA359218721 | DNAH5 | c.8442A>C (p.Glu2814Asp) c.8397A>C (p.Glu2799Asp) n.8649A>C c.8550A>C (p.Glu2850Asp) c.7455A>C (p.Glu2485Asp) c.3639A>C (p.Glu1213Asp) c.3192A>C (p.Glu1064Asp) c.2529A>C (p.Glu843Asp) c.7044A>C (p.Glu2348Asp) n.8567A>C | |
| 5 | g.13792000T= | CA1528440925 | DNAH5 | c.8442A= (p.Glu2814=) c.8397A= (p.Glu2799=) n.8649A= c.8550A= (p.Glu2850=) c.7455A= (p.Glu2485=) c.3639A= (p.Glu1213=) c.3192A= (p.Glu1064=) c.2529A= (p.Glu843=) c.7044A= (p.Glu2348=) n.8567A= | |
| 5 | g.13792001_13792005del | CA2673271066 | DNAH5 | c.8438_8442del (p.Lys2813ThrfsTer3) c.8393_8397del (p.Lys2798ThrfsTer3) n.8645_8649del c.8546_8550del (p.Lys2849ThrfsTer3) c.7451_7455del (p.Lys2484ThrfsTer3) c.3635_3639del (p.Lys1212ThrfsTer3) c.3188_3192del (p.Lys1063ThrfsTer3) c.2525_2529del (p.Lys842ThrfsTer3) c.7040_7044del (p.Lys2347ThrfsTer3) n.8563_8567del | gnomAD v4 |
| 5 | g.13792001T>A | CA359218725 | DNAH5 | c.8441A>T (p.Glu2814Val) c.8396A>T (p.Glu2799Val) n.8648A>T c.8549A>T (p.Glu2850Val) c.7454A>T (p.Glu2485Val) c.3638A>T (p.Glu1213Val) c.3191A>T (p.Glu1064Val) c.2528A>T (p.Glu843Val) c.7043A>T (p.Glu2348Val) n.8566A>T | |
| 5 | g.13792001T>C | CA359218723 | DNAH5 | c.8441A>G (p.Glu2814Gly) c.8396A>G (p.Glu2799Gly) n.8648A>G c.8549A>G (p.Glu2850Gly) c.7454A>G (p.Glu2485Gly) c.3638A>G (p.Glu1213Gly) c.3191A>G (p.Glu1064Gly) c.2528A>G (p.Glu843Gly) c.7043A>G (p.Glu2348Gly) n.8566A>G | |
| 5 | g.13792001T>G | CA359218722 | DNAH5 | c.8441A>C (p.Glu2814Ala) c.8396A>C (p.Glu2799Ala) n.8648A>C c.8549A>C (p.Glu2850Ala) c.7454A>C (p.Glu2485Ala) c.3638A>C (p.Glu1213Ala) c.3191A>C (p.Glu1064Ala) c.2528A>C (p.Glu843Ala) c.7043A>C (p.Glu2348Ala) n.8566A>C | |
| 5 | g.13792002C>A | CA359218732 | DNAH5 | c.8440G>T (p.Glu2814Ter) c.8395G>T (p.Glu2799Ter) n.8647G>T c.8548G>T (p.Glu2850Ter) c.7453G>T (p.Glu2485Ter) c.3637G>T (p.Glu1213Ter) c.3190G>T (p.Glu1064Ter) c.2527G>T (p.Glu843Ter) c.7042G>T (p.Glu2348Ter) n.8565G>T | COSMIC |
| 5 | g.13792002C>G | CA359218734 | DNAH5 | c.8440G>C (p.Glu2814Gln) c.8395G>C (p.Glu2799Gln) n.8647G>C c.8548G>C (p.Glu2850Gln) c.7453G>C (p.Glu2485Gln) c.3637G>C (p.Glu1213Gln) c.3190G>C (p.Glu1064Gln) c.2527G>C (p.Glu843Gln) c.7042G>C (p.Glu2348Gln) n.8565G>C | |
| 5 | g.13792002C>T | CA359218735 | DNAH5 | c.8440G>A (p.Glu2814Lys) c.8395G>A (p.Glu2799Lys) n.8647G>A c.8548G>A (p.Glu2850Lys) c.7453G>A (p.Glu2485Lys) c.3637G>A (p.Glu1213Lys) c.3190G>A (p.Glu1064Lys) c.2527G>A (p.Glu843Lys) c.7042G>A (p.Glu2348Lys) n.8565G>A | |
| 5 | g.13792003C>A | CA359218736 | DNAH5 | c.8439G>T (p.Lys2813Asn) c.8394G>T (p.Lys2798Asn) n.8646G>T c.8547G>T (p.Lys2849Asn) c.7452G>T (p.Lys2484Asn) c.3636G>T (p.Lys1212Asn) c.3189G>T (p.Lys1063Asn) c.2526G>T (p.Lys842Asn) c.7041G>T (p.Lys2347Asn) n.8564G>T | |
| 5 | g.13792003C= | CA1528440926 | DNAH5 | c.8439G= (p.Lys2813=) c.8394G= (p.Lys2798=) n.8646G= c.8547G= (p.Lys2849=) c.7452G= (p.Lys2484=) c.3636G= (p.Lys1212=) c.3189G= (p.Lys1063=) c.2526G= (p.Lys842=) c.7041G= (p.Lys2347=) n.8564G= | |
| 5 | g.13792003C>G | CA359218738 | DNAH5 | c.8439G>C (p.Lys2813Asn) c.8394G>C (p.Lys2798Asn) n.8646G>C c.8547G>C (p.Lys2849Asn) c.7452G>C (p.Lys2484Asn) c.3636G>C (p.Lys1212Asn) c.3189G>C (p.Lys1063Asn) c.2526G>C (p.Lys842Asn) c.7041G>C (p.Lys2347Asn) n.8564G>C | |
| 5 | g.13792003C>T | CA443263323 | DNAH5 | c.8439G>A (p.Lys2813=) c.8394G>A (p.Lys2798=) n.8646G>A c.8547G>A (p.Lys2849=) c.7452G>A (p.Lys2484=) c.3636G>A (p.Lys1212=) c.3189G>A (p.Lys1063=) c.2526G>A (p.Lys842=) c.7041G>A (p.Lys2347=) n.8564G>A | dbSNP gnomAD v4 |
| 5 | g.13792004T>A | CA359218740 | DNAH5 | c.8438A>T (p.Lys2813Met) c.8393A>T (p.Lys2798Met) n.8645A>T c.8546A>T (p.Lys2849Met) c.7451A>T (p.Lys2484Met) c.3635A>T (p.Lys1212Met) c.3188A>T (p.Lys1063Met) c.2525A>T (p.Lys842Met) c.7040A>T (p.Lys2347Met) n.8563A>T | |
| 5 | g.13792004T>C | CA359218741 | DNAH5 | c.8438A>G (p.Lys2813Arg) c.8393A>G (p.Lys2798Arg) n.8645A>G c.8546A>G (p.Lys2849Arg) c.7451A>G (p.Lys2484Arg) c.3635A>G (p.Lys1212Arg) c.3188A>G (p.Lys1063Arg) c.2525A>G (p.Lys842Arg) c.7040A>G (p.Lys2347Arg) n.8563A>G | |
| 5 | g.13792004T>G | CA359218743 | DNAH5 | c.8438A>C (p.Lys2813Thr) c.8393A>C (p.Lys2798Thr) n.8645A>C c.8546A>C (p.Lys2849Thr) c.7451A>C (p.Lys2484Thr) c.3635A>C (p.Lys1212Thr) c.3188A>C (p.Lys1063Thr) c.2525A>C (p.Lys842Thr) c.7040A>C (p.Lys2347Thr) n.8563A>C | |
| 5 | g.13792005T>A | CA359218745 | DNAH5 | c.8437A>T (p.Lys2813Ter) c.8392A>T (p.Lys2798Ter) n.8644A>T c.8545A>T (p.Lys2849Ter) c.7450A>T (p.Lys2484Ter) c.3634A>T (p.Lys1212Ter) c.3187A>T (p.Lys1063Ter) c.2524A>T (p.Lys842Ter) c.7039A>T (p.Lys2347Ter) n.8562A>T | |
| 5 | g.13792005T>C | CA359218756 | DNAH5 | c.8437A>G (p.Lys2813Glu) c.8392A>G (p.Lys2798Glu) n.8644A>G c.8545A>G (p.Lys2849Glu) c.7450A>G (p.Lys2484Glu) c.3634A>G (p.Lys1212Glu) c.3187A>G (p.Lys1063Glu) c.2524A>G (p.Lys842Glu) c.7039A>G (p.Lys2347Glu) n.8562A>G | |
| 5 | g.13792005T>G | CA359218758 | DNAH5 | c.8437A>C (p.Lys2813Gln) c.8392A>C (p.Lys2798Gln) n.8644A>C c.8545A>C (p.Lys2849Gln) c.7450A>C (p.Lys2484Gln) c.3634A>C (p.Lys1212Gln) c.3187A>C (p.Lys1063Gln) c.2524A>C (p.Lys842Gln) c.7039A>C (p.Lys2347Gln) n.8562A>C | gnomAD v4 |
| 5 | g.13792006G>A | CA443263330 | DNAH5 | c.8436C>T (p.Ile2812=) c.8391C>T (p.Ile2797=) n.8643C>T c.8544C>T (p.Ile2848=) c.7449C>T (p.Ile2483=) c.3633C>T (p.Ile1211=) c.3186C>T (p.Ile1062=) c.2523C>T (p.Ile841=) c.7038C>T (p.Ile2346=) n.8561C>T | gnomAD v4 |
| 5 | g.13792006G>C | CA359218760 | DNAH5 | c.8436C>G (p.Ile2812Met) c.8391C>G (p.Ile2797Met) n.8643C>G c.8544C>G (p.Ile2848Met) c.7449C>G (p.Ile2483Met) c.3633C>G (p.Ile1211Met) c.3186C>G (p.Ile1062Met) c.2523C>G (p.Ile841Met) c.7038C>G (p.Ile2346Met) n.8561C>G | |
| 5 | g.13792006G>T | CA443263332 | DNAH5 | c.8436C>A (p.Ile2812=) c.8391C>A (p.Ile2797=) n.8643C>A c.8544C>A (p.Ile2848=) c.7449C>A (p.Ile2483=) c.3633C>A (p.Ile1211=) c.3186C>A (p.Ile1062=) c.2523C>A (p.Ile841=) c.7038C>A (p.Ile2346=) n.8561C>A | |
| 5 | g.13792007del | CA2673271067 | DNAH5 | c.8435del (p.Ile2812ThrfsTer8) c.8390del (p.Ile2797ThrfsTer8) n.8642del c.8543del (p.Ile2848ThrfsTer8) c.7448del (p.Ile2483ThrfsTer8) c.3632del (p.Ile1211ThrfsTer8) c.3185del (p.Ile1062ThrfsTer8) c.2522del (p.Ile841ThrfsTer8) c.7037del (p.Ile2346ThrfsTer8) n.8560del | gnomAD v4 |
| 5 | g.13792007A>C | CA359218762 | DNAH5 | c.8435T>G (p.Ile2812Ser) c.8390T>G (p.Ile2797Ser) n.8642T>G c.8543T>G (p.Ile2848Ser) c.7448T>G (p.Ile2483Ser) c.3632T>G (p.Ile1211Ser) c.3185T>G (p.Ile1062Ser) c.2522T>G (p.Ile841Ser) c.7037T>G (p.Ile2346Ser) n.8560T>G | |
| 5 | g.13792007A>G | CA359218764 | DNAH5 | c.8435T>C (p.Ile2812Thr) c.8390T>C (p.Ile2797Thr) n.8642T>C c.8543T>C (p.Ile2848Thr) c.7448T>C (p.Ile2483Thr) c.3632T>C (p.Ile1211Thr) c.3185T>C (p.Ile1062Thr) c.2522T>C (p.Ile841Thr) c.7037T>C (p.Ile2346Thr) n.8560T>C | |
| 5 | g.13792007A>T | CA359218761 | DNAH5 | c.8435T>A (p.Ile2812Asn) c.8390T>A (p.Ile2797Asn) n.8642T>A c.8543T>A (p.Ile2848Asn) c.7448T>A (p.Ile2483Asn) c.3632T>A (p.Ile1211Asn) c.3185T>A (p.Ile1062Asn) c.2522T>A (p.Ile841Asn) c.7037T>A (p.Ile2346Asn) n.8560T>A | |
| 5 | g.13792008T>A | CA359218765 | DNAH5 | c.8434A>T (p.Ile2812Phe) c.8389A>T (p.Ile2797Phe) n.8641A>T c.8542A>T (p.Ile2848Phe) c.7447A>T (p.Ile2483Phe) c.3631A>T (p.Ile1211Phe) c.3184A>T (p.Ile1062Phe) c.2521A>T (p.Ile841Phe) c.7036A>T (p.Ile2346Phe) n.8559A>T | |
| 5 | g.13792008T>C | CA3202826 | DNAH5 | c.8434A>G (p.Ile2812Val) c.8389A>G (p.Ile2797Val) n.8641A>G c.8542A>G (p.Ile2848Val) c.7447A>G (p.Ile2483Val) c.3631A>G (p.Ile1211Val) c.3184A>G (p.Ile1062Val) c.2521A>G (p.Ile841Val) c.7036A>G (p.Ile2346Val) n.8559A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13792008T>G | CA3202827 | DNAH5 | c.8434A>C (p.Ile2812Leu) c.8389A>C (p.Ile2797Leu) n.8641A>C c.8542A>C (p.Ile2848Leu) c.7447A>C (p.Ile2483Leu) c.3631A>C (p.Ile1211Leu) c.3184A>C (p.Ile1062Leu) c.2521A>C (p.Ile841Leu) c.7036A>C (p.Ile2346Leu) n.8559A>C | dbSNP ExAC gnomAD v2 |
| 5 | g.13792008T= | CA1528440927 | DNAH5 | c.8434A= (p.Ile2812=) c.8389A= (p.Ile2797=) n.8641A= c.8542A= (p.Ile2848=) c.7447A= (p.Ile2483=) c.3631A= (p.Ile1211=) c.3184A= (p.Ile1062=) c.2521A= (p.Ile841=) c.7036A= (p.Ile2346=) n.8559A= | |
| 5 | g.13792009G>A | CA113959978 | DNAH5 | c.8433C>T (p.Val2811=) c.8388C>T (p.Val2796=) n.8640C>T c.8541C>T (p.Val2847=) c.7446C>T (p.Val2482=) c.3630C>T (p.Val1210=) c.3183C>T (p.Val1061=) c.2520C>T (p.Val840=) c.7035C>T (p.Val2345=) n.8558C>T | dbSNP gnomAD v4 COSMIC |
| 5 | g.13792009G>C | CA443263340 | DNAH5 | c.8433C>G (p.Val2811=) c.8388C>G (p.Val2796=) n.8640C>G c.8541C>G (p.Val2847=) c.7446C>G (p.Val2482=) c.3630C>G (p.Val1210=) c.3183C>G (p.Val1061=) c.2520C>G (p.Val840=) c.7035C>G (p.Val2345=) n.8558C>G | |
| 5 | g.13792009G= | CA1528440928 | DNAH5 | c.8433C= (p.Val2811=) c.8388C= (p.Val2796=) n.8640C= c.8541C= (p.Val2847=) c.7446C= (p.Val2482=) c.3630C= (p.Val1210=) c.3183C= (p.Val1061=) c.2520C= (p.Val840=) c.7035C= (p.Val2345=) n.8558C= | |
| 5 | g.13792009G>T | CA443263337 | DNAH5 | c.8433C>A (p.Val2811=) c.8388C>A (p.Val2796=) n.8640C>A c.8541C>A (p.Val2847=) c.7446C>A (p.Val2482=) c.3630C>A (p.Val1210=) c.3183C>A (p.Val1061=) c.2520C>A (p.Val840=) c.7035C>A (p.Val2345=) n.8558C>A | |
| 5 | g.13792010A>C | CA359218768 | DNAH5 | c.8432T>G (p.Val2811Gly) c.8387T>G (p.Val2796Gly) n.8639T>G c.8540T>G (p.Val2847Gly) c.7445T>G (p.Val2482Gly) c.3629T>G (p.Val1210Gly) c.3182T>G (p.Val1061Gly) c.2519T>G (p.Val840Gly) c.7034T>G (p.Val2345Gly) n.8557T>G | |
| 5 | g.13792010A>G | CA359218770 | DNAH5 | c.8432T>C (p.Val2811Ala) c.8387T>C (p.Val2796Ala) n.8639T>C c.8540T>C (p.Val2847Ala) c.7445T>C (p.Val2482Ala) c.3629T>C (p.Val1210Ala) c.3182T>C (p.Val1061Ala) c.2519T>C (p.Val840Ala) c.7034T>C (p.Val2345Ala) n.8557T>C | |
| 5 | g.13792010A>T | CA359218772 | DNAH5 | c.8432T>A (p.Val2811Asp) c.8387T>A (p.Val2796Asp) n.8639T>A c.8540T>A (p.Val2847Asp) c.7445T>A (p.Val2482Asp) c.3629T>A (p.Val1210Asp) c.3182T>A (p.Val1061Asp) c.2519T>A (p.Val840Asp) c.7034T>A (p.Val2345Asp) n.8557T>A | |
| 5 | g.13792011C>A | CA359218773 | DNAH5 | c.8431G>T (p.Val2811Phe) c.8386G>T (p.Val2796Phe) n.8638G>T c.8539G>T (p.Val2847Phe) c.7444G>T (p.Val2482Phe) c.3628G>T (p.Val1210Phe) c.3181G>T (p.Val1061Phe) c.2518G>T (p.Val840Phe) c.7033G>T (p.Val2345Phe) n.8556G>T | |
| 5 | g.13792011C>G | CA359218774 | DNAH5 | c.8431G>C (p.Val2811Leu) c.8386G>C (p.Val2796Leu) n.8638G>C c.8539G>C (p.Val2847Leu) c.7444G>C (p.Val2482Leu) c.3628G>C (p.Val1210Leu) c.3181G>C (p.Val1061Leu) c.2518G>C (p.Val840Leu) c.7033G>C (p.Val2345Leu) n.8556G>C | |
| 5 | g.13792011C>T | CA359218775 | DNAH5 | c.8431G>A (p.Val2811Ile) c.8386G>A (p.Val2796Ile) n.8638G>A c.8539G>A (p.Val2847Ile) c.7444G>A (p.Val2482Ile) c.3628G>A (p.Val1210Ile) c.3181G>A (p.Val1061Ile) c.2518G>A (p.Val840Ile) c.7033G>A (p.Val2345Ile) n.8556G>A | |
| 5 | g.13792012C>A | CA359218776 | DNAH5 | c.8430G>T (p.Glu2810Asp) c.8385G>T (p.Glu2795Asp) n.8637G>T c.8538G>T (p.Glu2846Asp) c.7443G>T (p.Glu2481Asp) c.3627G>T (p.Glu1209Asp) c.3180G>T (p.Glu1060Asp) c.2517G>T (p.Glu839Asp) c.7032G>T (p.Glu2344Asp) n.8555G>T | gnomAD v4 |
| 5 | g.13792012C>G | CA359218777 | DNAH5 | c.8430G>C (p.Glu2810Asp) c.8385G>C (p.Glu2795Asp) n.8637G>C c.8538G>C (p.Glu2846Asp) c.7443G>C (p.Glu2481Asp) c.3627G>C (p.Glu1209Asp) c.3180G>C (p.Glu1060Asp) c.2517G>C (p.Glu839Asp) c.7032G>C (p.Glu2344Asp) n.8555G>C | |
| 5 | g.13792012C>T | CA443263346 | DNAH5 | c.8430G>A (p.Glu2810=) c.8385G>A (p.Glu2795=) n.8637G>A c.8538G>A (p.Glu2846=) c.7443G>A (p.Glu2481=) c.3627G>A (p.Glu1209=) c.3180G>A (p.Glu1060=) c.2517G>A (p.Glu839=) c.7032G>A (p.Glu2344=) n.8555G>A | |
| 5 | g.13792013T>A | CA359218782 | DNAH5 | c.8429A>T (p.Glu2810Val) c.8384A>T (p.Glu2795Val) n.8636A>T c.8537A>T (p.Glu2846Val) c.7442A>T (p.Glu2481Val) c.3626A>T (p.Glu1209Val) c.3179A>T (p.Glu1060Val) c.2516A>T (p.Glu839Val) c.7031A>T (p.Glu2344Val) n.8554A>T | COSMIC |
| 5 | g.13792013T>C | CA359218784 | DNAH5 | c.8429A>G (p.Glu2810Gly) c.8384A>G (p.Glu2795Gly) n.8636A>G c.8537A>G (p.Glu2846Gly) c.7442A>G (p.Glu2481Gly) c.3626A>G (p.Glu1209Gly) c.3179A>G (p.Glu1060Gly) c.2516A>G (p.Glu839Gly) c.7031A>G (p.Glu2344Gly) n.8554A>G | |
| 5 | g.13792013T>G | CA359218779 | DNAH5 | c.8429A>C (p.Glu2810Ala) c.8384A>C (p.Glu2795Ala) n.8636A>C c.8537A>C (p.Glu2846Ala) c.7442A>C (p.Glu2481Ala) c.3626A>C (p.Glu1209Ala) c.3179A>C (p.Glu1060Ala) c.2516A>C (p.Glu839Ala) c.7031A>C (p.Glu2344Ala) n.8554A>C | |
| 5 | g.13792014C>A | CA359218786 | DNAH5 | c.8428G>T (p.Glu2810Ter) c.8383G>T (p.Glu2795Ter) n.8635G>T c.8536G>T (p.Glu2846Ter) c.7441G>T (p.Glu2481Ter) c.3625G>T (p.Glu1209Ter) c.3178G>T (p.Glu1060Ter) c.2515G>T (p.Glu839Ter) c.7030G>T (p.Glu2344Ter) n.8553G>T | |
| 5 | g.13792014C>G | CA359218787 | DNAH5 | c.8428G>C (p.Glu2810Gln) c.8383G>C (p.Glu2795Gln) n.8635G>C c.8536G>C (p.Glu2846Gln) c.7441G>C (p.Glu2481Gln) c.3625G>C (p.Glu1209Gln) c.3178G>C (p.Glu1060Gln) c.2515G>C (p.Glu839Gln) c.7030G>C (p.Glu2344Gln) n.8553G>C | |
| 5 | g.13792014C>T | CA359218794 | DNAH5 | c.8428G>A (p.Glu2810Lys) c.8383G>A (p.Glu2795Lys) n.8635G>A c.8536G>A (p.Glu2846Lys) c.7441G>A (p.Glu2481Lys) c.3625G>A (p.Glu1209Lys) c.3178G>A (p.Glu1060Lys) c.2515G>A (p.Glu839Lys) c.7030G>A (p.Glu2344Lys) n.8553G>A | dbSNP |
| 5 | g.13792015T>A | CA443263354 | DNAH5 | c.8427A>T (p.Ser2809=) c.8382A>T (p.Ser2794=) n.8634A>T c.8535A>T (p.Ser2845=) c.7440A>T (p.Ser2480=) c.3624A>T (p.Ser1208=) c.3177A>T (p.Ser1059=) c.2514A>T (p.Ser838=) c.7029A>T (p.Ser2343=) n.8552A>T | |
| 5 | g.13792015T>C | CA443263351 | DNAH5 | c.8427A>G (p.Ser2809=) c.8382A>G (p.Ser2794=) n.8634A>G c.8535A>G (p.Ser2845=) c.7440A>G (p.Ser2480=) c.3624A>G (p.Ser1208=) c.3177A>G (p.Ser1059=) c.2514A>G (p.Ser838=) c.7029A>G (p.Ser2343=) n.8552A>G | gnomAD v4 |
| 5 | g.13792015T>G | CA443263352 | DNAH5 | c.8427A>C (p.Ser2809=) c.8382A>C (p.Ser2794=) n.8634A>C c.8535A>C (p.Ser2845=) c.7440A>C (p.Ser2480=) c.3624A>C (p.Ser1208=) c.3177A>C (p.Ser1059=) c.2514A>C (p.Ser838=) c.7029A>C (p.Ser2343=) n.8552A>C | |
| 5 | g.13792016G>A | CA113960012 | DNAH5 | c.8426C>T (p.Ser2809Leu) c.8381C>T (p.Ser2794Leu) n.8633C>T c.8534C>T (p.Ser2845Leu) c.7439C>T (p.Ser2480Leu) c.3623C>T (p.Ser1208Leu) c.3176C>T (p.Ser1059Leu) c.2513C>T (p.Ser838Leu) c.7028C>T (p.Ser2343Leu) n.8551C>T | dbSNP gnomAD v4 COSMIC |
| 5 | g.13792016G>C | CA359218796 | DNAH5 | c.8426C>G (p.Ser2809Ter) c.8381C>G (p.Ser2794Ter) n.8633C>G c.8534C>G (p.Ser2845Ter) c.7439C>G (p.Ser2480Ter) c.3623C>G (p.Ser1208Ter) c.3176C>G (p.Ser1059Ter) c.2513C>G (p.Ser838Ter) c.7028C>G (p.Ser2343Ter) n.8551C>G | |
| 5 | g.13792016G= | CA1528440929 | DNAH5 | c.8426C= (p.Ser2809=) c.8381C= (p.Ser2794=) n.8633C= c.8534C= (p.Ser2845=) c.7439C= (p.Ser2480=) c.3623C= (p.Ser1208=) c.3176C= (p.Ser1059=) c.2513C= (p.Ser838=) c.7028C= (p.Ser2343=) n.8551C= | |
| 5 | g.13792016G>T | CA359218797 | DNAH5 | c.8426C>A (p.Ser2809Ter) c.8381C>A (p.Ser2794Ter) n.8633C>A c.8534C>A (p.Ser2845Ter) c.7439C>A (p.Ser2480Ter) c.3623C>A (p.Ser1208Ter) c.3176C>A (p.Ser1059Ter) c.2513C>A (p.Ser838Ter) c.7028C>A (p.Ser2343Ter) n.8551C>A | |
| 5 | g.13792017A= | CA1528440930 | DNAH5 | c.8425T= (p.Ser2809=) c.8380T= (p.Ser2794=) n.8632T= c.8533T= (p.Ser2845=) c.7438T= (p.Ser2480=) c.3622T= (p.Ser1208=) c.3175T= (p.Ser1059=) c.2512T= (p.Ser838=) c.7027T= (p.Ser2343=) n.8550T= | |
| 5 | g.13792017A>C | CA359218799 | DNAH5 | c.8425T>G (p.Ser2809Ala) c.8380T>G (p.Ser2794Ala) n.8632T>G c.8533T>G (p.Ser2845Ala) c.7438T>G (p.Ser2480Ala) c.3622T>G (p.Ser1208Ala) c.3175T>G (p.Ser1059Ala) c.2512T>G (p.Ser838Ala) c.7027T>G (p.Ser2343Ala) n.8550T>G | |
| 5 | g.13792017A>G | CA359218801 | DNAH5 | c.8425T>C (p.Ser2809Pro) c.8380T>C (p.Ser2794Pro) n.8632T>C c.8533T>C (p.Ser2845Pro) c.7438T>C (p.Ser2480Pro) c.3622T>C (p.Ser1208Pro) c.3175T>C (p.Ser1059Pro) c.2512T>C (p.Ser838Pro) c.7027T>C (p.Ser2343Pro) n.8550T>C | |
| 5 | g.13792017A>T | CA359218800 | DNAH5 | c.8425T>A (p.Ser2809Thr) c.8380T>A (p.Ser2794Thr) n.8632T>A c.8533T>A (p.Ser2845Thr) c.7438T>A (p.Ser2480Thr) c.3622T>A (p.Ser1208Thr) c.3175T>A (p.Ser1059Thr) c.2512T>A (p.Ser838Thr) c.7027T>A (p.Ser2343Thr) n.8550T>A | |
| 5 | g.13792018A>C | CA443263360 | DNAH5 | c.8424T>G (p.Thr2808=) c.8379T>G (p.Thr2793=) n.8631T>G c.8532T>G (p.Thr2844=) c.7437T>G (p.Thr2479=) c.3621T>G (p.Thr1207=) c.3174T>G (p.Thr1058=) c.2511T>G (p.Thr837=) c.7026T>G (p.Thr2342=) n.8549T>G | |
| 5 | g.13792018A>G | CA443263361 | DNAH5 | c.8424T>C (p.Thr2808=) c.8379T>C (p.Thr2793=) n.8631T>C c.8532T>C (p.Thr2844=) c.7437T>C (p.Thr2479=) c.3621T>C (p.Thr1207=) c.3174T>C (p.Thr1058=) c.2511T>C (p.Thr837=) c.7026T>C (p.Thr2342=) n.8549T>C | |
| 5 | g.13792018A>T | CA443263362 | DNAH5 | c.8424T>A (p.Thr2808=) c.8379T>A (p.Thr2793=) n.8631T>A c.8532T>A (p.Thr2844=) c.7437T>A (p.Thr2479=) c.3621T>A (p.Thr1207=) c.3174T>A (p.Thr1058=) c.2511T>A (p.Thr837=) c.7026T>A (p.Thr2342=) n.8549T>A | |
| 5 | g.13792021_13792023dup | CA3202828 | DNAH5 | c.8422_8424dup (p.Thr2808_Ser2809insThr) c.8377_8379dup (p.Thr2793_Ser2794insThr) n.8629_8631dup c.8530_8532dup (p.Thr2844_Ser2845insThr) c.7435_7437dup (p.Thr2479_Ser2480insThr) c.3619_3621dup (p.Thr1207_Ser1208insThr) c.3172_3174dup (p.Thr1058_Ser1059insThr) c.2509_2511dup (p.Thr837_Ser838insThr) c.7024_7026dup (p.Thr2342_Ser2343insThr) n.8547_8549dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13792019G>A | CA359218804 | DNAH5 | c.8423C>T (p.Thr2808Ile) c.8378C>T (p.Thr2793Ile) n.8630C>T c.8531C>T (p.Thr2844Ile) c.7436C>T (p.Thr2479Ile) c.3620C>T (p.Thr1207Ile) c.3173C>T (p.Thr1058Ile) c.2510C>T (p.Thr837Ile) c.7025C>T (p.Thr2342Ile) n.8548C>T | dbSNP gnomAD v4 COSMIC |
| 5 | g.13792019G>C | CA359218806 | DNAH5 | c.8423C>G (p.Thr2808Ser) c.8378C>G (p.Thr2793Ser) n.8630C>G c.8531C>G (p.Thr2844Ser) c.7436C>G (p.Thr2479Ser) c.3620C>G (p.Thr1207Ser) c.3173C>G (p.Thr1058Ser) c.2510C>G (p.Thr837Ser) c.7025C>G (p.Thr2342Ser) n.8548C>G | gnomAD v4 |
| 5 | g.13792019G= | CA1528440931 | DNAH5 | c.8423C= (p.Thr2808=) c.8378C= (p.Thr2793=) n.8630C= c.8531C= (p.Thr2844=) c.7436C= (p.Thr2479=) c.3620C= (p.Thr1207=) c.3173C= (p.Thr1058=) c.2510C= (p.Thr837=) c.7025C= (p.Thr2342=) n.8548C= | |
| 5 | g.13792019G>T | CA359218808 | DNAH5 | c.8423C>A (p.Thr2808Asn) c.8378C>A (p.Thr2793Asn) n.8630C>A c.8531C>A (p.Thr2844Asn) c.7436C>A (p.Thr2479Asn) c.3620C>A (p.Thr1207Asn) c.3173C>A (p.Thr1058Asn) c.2510C>A (p.Thr837Asn) c.7025C>A (p.Thr2342Asn) n.8548C>A | |
| 5 | g.13792020T>A | CA359218813 | DNAH5 | c.8422A>T (p.Thr2808Ser) c.8377A>T (p.Thr2793Ser) n.8629A>T c.8530A>T (p.Thr2844Ser) c.7435A>T (p.Thr2479Ser) c.3619A>T (p.Thr1207Ser) c.3172A>T (p.Thr1058Ser) c.2509A>T (p.Thr837Ser) c.7024A>T (p.Thr2342Ser) n.8547A>T | |
| 5 | g.13792020T>C | CA359218812 | DNAH5 | c.8422A>G (p.Thr2808Ala) c.8377A>G (p.Thr2793Ala) n.8629A>G c.8530A>G (p.Thr2844Ala) c.7435A>G (p.Thr2479Ala) c.3619A>G (p.Thr1207Ala) c.3172A>G (p.Thr1058Ala) c.2509A>G (p.Thr837Ala) c.7024A>G (p.Thr2342Ala) n.8547A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13792020T>G | CA359218810 | DNAH5 | c.8422A>C (p.Thr2808Pro) c.8377A>C (p.Thr2793Pro) n.8629A>C c.8530A>C (p.Thr2844Pro) c.7435A>C (p.Thr2479Pro) c.3619A>C (p.Thr1207Pro) c.3172A>C (p.Thr1058Pro) c.2509A>C (p.Thr837Pro) c.7024A>C (p.Thr2342Pro) n.8547A>C | |
| 5 | g.13792020T= | CA1528440932 | DNAH5 | c.8422A= (p.Thr2808=) c.8377A= (p.Thr2793=) n.8629A= c.8530A= (p.Thr2844=) c.7435A= (p.Thr2479=) c.3619A= (p.Thr1207=) c.3172A= (p.Thr1058=) c.2509A= (p.Thr837=) c.7024A= (p.Thr2342=) n.8547A= | |
| 5 | g.13792021A>C | CA443263366 | DNAH5 | c.8421T>G (p.Thr2807=) c.8376T>G (p.Thr2792=) n.8628T>G c.8529T>G (p.Thr2843=) c.7434T>G (p.Thr2478=) c.3618T>G (p.Thr1206=) c.3171T>G (p.Thr1057=) c.2508T>G (p.Thr836=) c.7023T>G (p.Thr2341=) n.8546T>G | |
| 5 | g.13792021A>G | CA443263367 | DNAH5 | c.8421T>C (p.Thr2807=) c.8376T>C (p.Thr2792=) n.8628T>C c.8529T>C (p.Thr2843=) c.7434T>C (p.Thr2478=) c.3618T>C (p.Thr1206=) c.3171T>C (p.Thr1057=) c.2508T>C (p.Thr836=) c.7023T>C (p.Thr2341=) n.8546T>C | |
| 5 | g.13792021A>T | CA443263368 | DNAH5 | c.8421T>A (p.Thr2807=) c.8376T>A (p.Thr2792=) n.8628T>A c.8529T>A (p.Thr2843=) c.7434T>A (p.Thr2478=) c.3618T>A (p.Thr1206=) c.3171T>A (p.Thr1057=) c.2508T>A (p.Thr836=) c.7023T>A (p.Thr2341=) n.8546T>A | |
| 5 | g.13792022G>A | CA359218815 | DNAH5 | c.8420C>T (p.Thr2807Ile) c.8375C>T (p.Thr2792Ile) n.8627C>T c.8528C>T (p.Thr2843Ile) c.7433C>T (p.Thr2478Ile) c.3617C>T (p.Thr1206Ile) c.3170C>T (p.Thr1057Ile) c.2507C>T (p.Thr836Ile) c.7022C>T (p.Thr2341Ile) n.8545C>T | gnomAD v4 |
| 5 | g.13792022G>C | CA359218818 | DNAH5 | c.8420C>G (p.Thr2807Ser) c.8375C>G (p.Thr2792Ser) n.8627C>G c.8528C>G (p.Thr2843Ser) c.7433C>G (p.Thr2478Ser) c.3617C>G (p.Thr1206Ser) c.3170C>G (p.Thr1057Ser) c.2507C>G (p.Thr836Ser) c.7022C>G (p.Thr2341Ser) n.8545C>G | gnomAD v4 |
| 5 | g.13792022G>T | CA359218816 | DNAH5 | c.8420C>A (p.Thr2807Asn) c.8375C>A (p.Thr2792Asn) n.8627C>A c.8528C>A (p.Thr2843Asn) c.7433C>A (p.Thr2478Asn) c.3617C>A (p.Thr1206Asn) c.3170C>A (p.Thr1057Asn) c.2507C>A (p.Thr836Asn) c.7022C>A (p.Thr2341Asn) n.8545C>A | |
| 5 | g.13792023T>A | CA359218820 | DNAH5 | c.8419A>T (p.Thr2807Ser) c.8374A>T (p.Thr2792Ser) n.8626A>T c.8527A>T (p.Thr2843Ser) c.7432A>T (p.Thr2478Ser) c.3616A>T (p.Thr1206Ser) c.3169A>T (p.Thr1057Ser) c.2506A>T (p.Thr836Ser) c.7021A>T (p.Thr2341Ser) n.8544A>T | |
| 5 | g.13792023T>C | CA359218829 | DNAH5 | c.8419A>G (p.Thr2807Ala) c.8374A>G (p.Thr2792Ala) n.8626A>G c.8527A>G (p.Thr2843Ala) c.7432A>G (p.Thr2478Ala) c.3616A>G (p.Thr1206Ala) c.3169A>G (p.Thr1057Ala) c.2506A>G (p.Thr836Ala) c.7021A>G (p.Thr2341Ala) n.8544A>G | dbSNP gnomAD v4 |
| 5 | g.13792023T>G | CA359218834 | DNAH5 | c.8419A>C (p.Thr2807Pro) c.8374A>C (p.Thr2792Pro) n.8626A>C c.8527A>C (p.Thr2843Pro) c.7432A>C (p.Thr2478Pro) c.3616A>C (p.Thr1206Pro) c.3169A>C (p.Thr1057Pro) c.2506A>C (p.Thr836Pro) c.7021A>C (p.Thr2341Pro) n.8544A>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13792023T= | CA1528440933 | DNAH5 | c.8419A= (p.Thr2807=) c.8374A= (p.Thr2792=) n.8626A= c.8527A= (p.Thr2843=) c.7432A= (p.Thr2478=) c.3616A= (p.Thr1206=) c.3169A= (p.Thr1057=) c.2506A= (p.Thr836=) c.7021A= (p.Thr2341=) n.8544A= | |
| 5 | g.13792024G>A | CA113960023 | DNAH5 | c.8418C>T (p.Asn2806=) c.8373C>T (p.Asn2791=) n.8625C>T c.8526C>T (p.Asn2842=) c.7431C>T (p.Asn2477=) c.3615C>T (p.Asn1205=) c.3168C>T (p.Asn1056=) c.2505C>T (p.Asn835=) c.7020C>T (p.Asn2340=) n.8543C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13792024G>C | CA359218838 | DNAH5 | c.8418C>G (p.Asn2806Lys) c.8373C>G (p.Asn2791Lys) n.8625C>G c.8526C>G (p.Asn2842Lys) c.7431C>G (p.Asn2477Lys) c.3615C>G (p.Asn1205Lys) c.3168C>G (p.Asn1056Lys) c.2505C>G (p.Asn835Lys) c.7020C>G (p.Asn2340Lys) n.8543C>G | |
| 5 | g.13792024G= | CA1528440934 | DNAH5 | c.8418C= (p.Asn2806=) c.8373C= (p.Asn2791=) n.8625C= c.8526C= (p.Asn2842=) c.7431C= (p.Asn2477=) c.3615C= (p.Asn1205=) c.3168C= (p.Asn1056=) c.2505C= (p.Asn835=) c.7020C= (p.Asn2340=) n.8543C= | |
| 5 | g.13792024G>T | CA3202829 | DNAH5 | c.8418C>A (p.Asn2806Lys) c.8373C>A (p.Asn2791Lys) n.8625C>A c.8526C>A (p.Asn2842Lys) c.7431C>A (p.Asn2477Lys) c.3615C>A (p.Asn1205Lys) c.3168C>A (p.Asn1056Lys) c.2505C>A (p.Asn835Lys) c.7020C>A (p.Asn2340Lys) n.8543C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13792025T>A | CA359218844 | DNAH5 | c.8417A>T (p.Asn2806Ile) c.8372A>T (p.Asn2791Ile) n.8624A>T c.8525A>T (p.Asn2842Ile) c.7430A>T (p.Asn2477Ile) c.3614A>T (p.Asn1205Ile) c.3167A>T (p.Asn1056Ile) c.2504A>T (p.Asn835Ile) c.7019A>T (p.Asn2340Ile) n.8542A>T | |
| 5 | g.13792025T>C | CA359218847 | DNAH5 | c.8417A>G (p.Asn2806Ser) c.8372A>G (p.Asn2791Ser) n.8624A>G c.8525A>G (p.Asn2842Ser) c.7430A>G (p.Asn2477Ser) c.3614A>G (p.Asn1205Ser) c.3167A>G (p.Asn1056Ser) c.2504A>G (p.Asn835Ser) c.7019A>G (p.Asn2340Ser) n.8542A>G | |
| 5 | g.13792025T>G | CA359218851 | DNAH5 | c.8417A>C (p.Asn2806Thr) c.8372A>C (p.Asn2791Thr) n.8624A>C c.8525A>C (p.Asn2842Thr) c.7430A>C (p.Asn2477Thr) c.3614A>C (p.Asn1205Thr) c.3167A>C (p.Asn1056Thr) c.2504A>C (p.Asn835Thr) c.7019A>C (p.Asn2340Thr) n.8542A>C | |
| 5 | g.13792026T>A | CA359218855 | DNAH5 | c.8416A>T (p.Asn2806Tyr) c.8371A>T (p.Asn2791Tyr) n.8623A>T c.8524A>T (p.Asn2842Tyr) c.7429A>T (p.Asn2477Tyr) c.3613A>T (p.Asn1205Tyr) c.3166A>T (p.Asn1056Tyr) c.2503A>T (p.Asn835Tyr) c.7018A>T (p.Asn2340Tyr) n.8541A>T | |
| 5 | g.13792026T>C | CA359218858 | DNAH5 | c.8416A>G (p.Asn2806Asp) c.8371A>G (p.Asn2791Asp) n.8623A>G c.8524A>G (p.Asn2842Asp) c.7429A>G (p.Asn2477Asp) c.3613A>G (p.Asn1205Asp) c.3166A>G (p.Asn1056Asp) c.2503A>G (p.Asn835Asp) c.7018A>G (p.Asn2340Asp) n.8541A>G | |
| 5 | g.13792026T>G | CA359218861 | DNAH5 | c.8416A>C (p.Asn2806His) c.8371A>C (p.Asn2791His) n.8623A>C c.8524A>C (p.Asn2842His) c.7429A>C (p.Asn2477His) c.3613A>C (p.Asn1205His) c.3166A>C (p.Asn1056His) c.2503A>C (p.Asn835His) c.7018A>C (p.Asn2340His) n.8541A>C | |
| 5 | g.13792027C>A | CA443263379 | DNAH5 | c.8415G>T (p.Leu2805=) c.8370G>T (p.Leu2790=) n.8622G>T c.8523G>T (p.Leu2841=) c.7428G>T (p.Leu2476=) c.3612G>T (p.Leu1204=) c.3165G>T (p.Leu1055=) c.2502G>T (p.Leu834=) c.7017G>T (p.Leu2339=) n.8540G>T | gnomAD v4 |
| 5 | g.13792027C>G | CA443263380 | DNAH5 | c.8415G>C (p.Leu2805=) c.8370G>C (p.Leu2790=) n.8622G>C c.8523G>C (p.Leu2841=) c.7428G>C (p.Leu2476=) c.3612G>C (p.Leu1204=) c.3165G>C (p.Leu1055=) c.2502G>C (p.Leu834=) c.7017G>C (p.Leu2339=) n.8540G>C | |
| 5 | g.13792027C>T | CA443263381 | DNAH5 | c.8415G>A (p.Leu2805=) c.8370G>A (p.Leu2790=) n.8622G>A c.8523G>A (p.Leu2841=) c.7428G>A (p.Leu2476=) c.3612G>A (p.Leu1204=) c.3165G>A (p.Leu1055=) c.2502G>A (p.Leu834=) c.7017G>A (p.Leu2339=) n.8540G>A | |
| 5 | g.13792028A= | CA1528440935 | DNAH5 | c.8414T= (p.Leu2805=) c.8369T= (p.Leu2790=) n.8621T= c.8522T= (p.Leu2841=) c.7427T= (p.Leu2476=) c.3611T= (p.Leu1204=) c.3164T= (p.Leu1055=) c.2501T= (p.Leu834=) c.7016T= (p.Leu2339=) n.8539T= | |
| 5 | g.13792028A>C | CA359218879 | DNAH5 | c.8414T>G (p.Leu2805Arg) c.8369T>G (p.Leu2790Arg) n.8621T>G c.8522T>G (p.Leu2841Arg) c.7427T>G (p.Leu2476Arg) c.3611T>G (p.Leu1204Arg) c.3164T>G (p.Leu1055Arg) c.2501T>G (p.Leu834Arg) c.7016T>G (p.Leu2339Arg) n.8539T>G | COSMIC |
| 5 | g.13792028A>G | CA359218874 | DNAH5 | c.8414T>C (p.Leu2805Pro) c.8369T>C (p.Leu2790Pro) n.8621T>C c.8522T>C (p.Leu2841Pro) c.7427T>C (p.Leu2476Pro) c.3611T>C (p.Leu1204Pro) c.3164T>C (p.Leu1055Pro) c.2501T>C (p.Leu834Pro) c.7016T>C (p.Leu2339Pro) n.8539T>C | dbSNP |
| 5 | g.13792028A>T | CA359218876 | DNAH5 | c.8414T>A (p.Leu2805Gln) c.8369T>A (p.Leu2790Gln) n.8621T>A c.8522T>A (p.Leu2841Gln) c.7427T>A (p.Leu2476Gln) c.3611T>A (p.Leu1204Gln) c.3164T>A (p.Leu1055Gln) c.2501T>A (p.Leu834Gln) c.7016T>A (p.Leu2339Gln) n.8539T>A | |
| 5 | g.13792029G>A | CA443263386 | DNAH5 | c.8413C>T (p.Leu2805=) c.8368C>T (p.Leu2790=) n.8620C>T c.8521C>T (p.Leu2841=) c.7426C>T (p.Leu2476=) c.3610C>T (p.Leu1204=) c.3163C>T (p.Leu1055=) c.2500C>T (p.Leu834=) c.7015C>T (p.Leu2339=) n.8538C>T | |
| 5 | g.13792029G>C | CA359218887 | DNAH5 | c.8413C>G (p.Leu2805Val) c.8368C>G (p.Leu2790Val) n.8620C>G c.8521C>G (p.Leu2841Val) c.7426C>G (p.Leu2476Val) c.3610C>G (p.Leu1204Val) c.3163C>G (p.Leu1055Val) c.2500C>G (p.Leu834Val) c.7015C>G (p.Leu2339Val) n.8538C>G | |
| 5 | g.13792029G>T | CA359218889 | DNAH5 | c.8413C>A (p.Leu2805Met) c.8368C>A (p.Leu2790Met) n.8620C>A c.8521C>A (p.Leu2841Met) c.7426C>A (p.Leu2476Met) c.3610C>A (p.Leu1204Met) c.3163C>A (p.Leu1055Met) c.2500C>A (p.Leu834Met) c.7015C>A (p.Leu2339Met) n.8538C>A | |
| 5 | g.13792030C>A | CA359218892 | DNAH5 | c.8412G>T (p.Met2804Ile) c.8367G>T (p.Met2789Ile) n.8619G>T c.8520G>T (p.Met2840Ile) c.7425G>T (p.Met2475Ile) c.3609G>T (p.Met1203Ile) c.3162G>T (p.Met1054Ile) c.2499G>T (p.Met833Ile) c.7014G>T (p.Met2338Ile) n.8537G>T | |
| 5 | g.13792030C= | CA1528440936 | DNAH5 | c.8412G= (p.Met2804=) c.8367G= (p.Met2789=) n.8619G= c.8520G= (p.Met2840=) c.7425G= (p.Met2475=) c.3609G= (p.Met1203=) c.3162G= (p.Met1054=) c.2499G= (p.Met833=) c.7014G= (p.Met2338=) n.8537G= | |
| 5 | g.13792030C>G | CA359218895 | DNAH5 | c.8412G>C (p.Met2804Ile) c.8367G>C (p.Met2789Ile) n.8619G>C c.8520G>C (p.Met2840Ile) c.7425G>C (p.Met2475Ile) c.3609G>C (p.Met1203Ile) c.3162G>C (p.Met1054Ile) c.2499G>C (p.Met833Ile) c.7014G>C (p.Met2338Ile) n.8537G>C | |
| 5 | g.13792030C>T | CA3202830 | DNAH5 | c.8412G>A (p.Met2804Ile) c.8367G>A (p.Met2789Ile) n.8619G>A c.8520G>A (p.Met2840Ile) c.7425G>A (p.Met2475Ile) c.3609G>A (p.Met1203Ile) c.3162G>A (p.Met1054Ile) c.2499G>A (p.Met833Ile) c.7014G>A (p.Met2338Ile) n.8537G>A | dbSNP ExAC gnomAD v2 |
| 5 | g.13792031A>C | CA359218902 | DNAH5 | c.8411T>G (p.Met2804Arg) c.8366T>G (p.Met2789Arg) n.8618T>G c.8519T>G (p.Met2840Arg) c.7424T>G (p.Met2475Arg) c.3608T>G (p.Met1203Arg) c.3161T>G (p.Met1054Arg) c.2498T>G (p.Met833Arg) c.7013T>G (p.Met2338Arg) n.8536T>G | |
| 5 | g.13792031A>G | CA359218905 | DNAH5 | c.8411T>C (p.Met2804Thr) c.8366T>C (p.Met2789Thr) n.8618T>C c.8519T>C (p.Met2840Thr) c.7424T>C (p.Met2475Thr) c.3608T>C (p.Met1203Thr) c.3161T>C (p.Met1054Thr) c.2498T>C (p.Met833Thr) c.7013T>C (p.Met2338Thr) n.8536T>C | |
| 5 | g.13792031A>T | CA359218907 | DNAH5 | c.8411T>A (p.Met2804Lys) c.8366T>A (p.Met2789Lys) n.8618T>A c.8519T>A (p.Met2840Lys) c.7424T>A (p.Met2475Lys) c.3608T>A (p.Met1203Lys) c.3161T>A (p.Met1054Lys) c.2498T>A (p.Met833Lys) c.7013T>A (p.Met2338Lys) n.8536T>A | |
| 5 | g.13792032T>A | CA359218909 | DNAH5 | c.8410A>T (p.Met2804Leu) c.8365A>T (p.Met2789Leu) n.8617A>T c.8518A>T (p.Met2840Leu) c.7423A>T (p.Met2475Leu) c.3607A>T (p.Met1203Leu) c.3160A>T (p.Met1054Leu) c.2497A>T (p.Met833Leu) c.7012A>T (p.Met2338Leu) n.8535A>T | gnomAD v4 |
| 5 | g.13792032T>C | CA3202831 | DNAH5 | c.8410A>G (p.Met2804Val) c.8365A>G (p.Met2789Val) n.8617A>G c.8518A>G (p.Met2840Val) c.7423A>G (p.Met2475Val) c.3607A>G (p.Met1203Val) c.3160A>G (p.Met1054Val) c.2497A>G (p.Met833Val) c.7012A>G (p.Met2338Val) n.8535A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13792032T>G | CA359218915 | DNAH5 | c.8410A>C (p.Met2804Leu) c.8365A>C (p.Met2789Leu) n.8617A>C c.8518A>C (p.Met2840Leu) c.7423A>C (p.Met2475Leu) c.3607A>C (p.Met1203Leu) c.3160A>C (p.Met1054Leu) c.2497A>C (p.Met833Leu) c.7012A>C (p.Met2338Leu) n.8535A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13792032T= | CA1528440937 | DNAH5 | c.8410A= (p.Met2804=) c.8365A= (p.Met2789=) n.8617A= c.8518A= (p.Met2840=) c.7423A= (p.Met2475=) c.3607A= (p.Met1203=) c.3160A= (p.Met1054=) c.2497A= (p.Met833=) c.7012A= (p.Met2338=) n.8535A= | |
| 5 | g.13792033T>A | CA443263389 | DNAH5 | c.8409A>T (p.Gly2803=) c.8364A>T (p.Gly2788=) n.8616A>T c.8517A>T (p.Gly2839=) c.7422A>T (p.Gly2474=) c.3606A>T (p.Gly1202=) c.3159A>T (p.Gly1053=) c.2496A>T (p.Gly832=) c.7011A>T (p.Gly2337=) n.8534A>T | |
| 5 | g.13792033T>C | CA443263390 | DNAH5 | c.8409A>G (p.Gly2803=) c.8364A>G (p.Gly2788=) n.8616A>G c.8517A>G (p.Gly2839=) c.7422A>G (p.Gly2474=) c.3606A>G (p.Gly1202=) c.3159A>G (p.Gly1053=) c.2496A>G (p.Gly832=) c.7011A>G (p.Gly2337=) n.8534A>G | ClinVar dbSNP |
| 5 | g.13792033T>G | CA443263391 | DNAH5 | c.8409A>C (p.Gly2803=) c.8364A>C (p.Gly2788=) n.8616A>C c.8517A>C (p.Gly2839=) c.7422A>C (p.Gly2474=) c.3606A>C (p.Gly1202=) c.3159A>C (p.Gly1053=) c.2496A>C (p.Gly832=) c.7011A>C (p.Gly2337=) n.8534A>C | |
| 5 | g.13792034C>A | CA359218921 | DNAH5 | c.8408G>T (p.Gly2803Val) c.8363G>T (p.Gly2788Val) n.8615G>T c.8516G>T (p.Gly2839Val) c.7421G>T (p.Gly2474Val) c.3605G>T (p.Gly1202Val) c.3158G>T (p.Gly1053Val) c.2495G>T (p.Gly832Val) c.7010G>T (p.Gly2337Val) n.8533G>T | |
| 5 | g.13792034C>G | CA359218928 | DNAH5 | c.8408G>C (p.Gly2803Ala) c.8363G>C (p.Gly2788Ala) n.8615G>C c.8516G>C (p.Gly2839Ala) c.7421G>C (p.Gly2474Ala) c.3605G>C (p.Gly1202Ala) c.3158G>C (p.Gly1053Ala) c.2495G>C (p.Gly832Ala) c.7010G>C (p.Gly2337Ala) n.8533G>C | |
| 5 | g.13792034C>T | CA359218918 | DNAH5 | c.8408G>A (p.Gly2803Glu) c.8363G>A (p.Gly2788Glu) n.8615G>A c.8516G>A (p.Gly2839Glu) c.7421G>A (p.Gly2474Glu) c.3605G>A (p.Gly1202Glu) c.3158G>A (p.Gly1053Glu) c.2495G>A (p.Gly832Glu) c.7010G>A (p.Gly2337Glu) n.8533G>A | gnomAD v4 |
| 5 | g.13792035C>A | CA359218930 | DNAH5 | c.8407G>T (p.Gly2803Ter) c.8362G>T (p.Gly2788Ter) n.8614G>T c.8515G>T (p.Gly2839Ter) c.7420G>T (p.Gly2474Ter) c.3604G>T (p.Gly1202Ter) c.3157G>T (p.Gly1053Ter) c.2494G>T (p.Gly832Ter) c.7009G>T (p.Gly2337Ter) n.8532G>T | |
| 5 | g.13792035C>G | CA359218932 | DNAH5 | c.8407G>C (p.Gly2803Arg) c.8362G>C (p.Gly2788Arg) n.8614G>C c.8515G>C (p.Gly2839Arg) c.7420G>C (p.Gly2474Arg) c.3604G>C (p.Gly1202Arg) c.3157G>C (p.Gly1053Arg) c.2494G>C (p.Gly832Arg) c.7009G>C (p.Gly2337Arg) n.8532G>C | |
| 5 | g.13792035C>T | CA359218935 | DNAH5 | c.8407G>A (p.Gly2803Arg) c.8362G>A (p.Gly2788Arg) n.8614G>A c.8515G>A (p.Gly2839Arg) c.7420G>A (p.Gly2474Arg) c.3604G>A (p.Gly1202Arg) c.3157G>A (p.Gly1053Arg) c.2494G>A (p.Gly832Arg) c.7009G>A (p.Gly2337Arg) n.8532G>A | |
| 5 | g.13792036C>A | CA359218938 | DNAH5 | c.8406G>T (p.Gln2802His) c.8361G>T (p.Gln2787His) n.8613G>T c.8514G>T (p.Gln2838His) c.7419G>T (p.Gln2473His) c.3603G>T (p.Gln1201His) c.3156G>T (p.Gln1052His) c.2493G>T (p.Gln831His) c.7008G>T (p.Gln2336His) n.8531G>T | |
| 5 | g.13792036C>G | CA359218941 | DNAH5 | c.8406G>C (p.Gln2802His) c.8361G>C (p.Gln2787His) n.8613G>C c.8514G>C (p.Gln2838His) c.7419G>C (p.Gln2473His) c.3603G>C (p.Gln1201His) c.3156G>C (p.Gln1052His) c.2493G>C (p.Gln831His) c.7008G>C (p.Gln2336His) n.8531G>C | |
| 5 | g.13792036C>T | CA443263393 | DNAH5 | c.8406G>A (p.Gln2802=) c.8361G>A (p.Gln2787=) n.8613G>A c.8514G>A (p.Gln2838=) c.7419G>A (p.Gln2473=) c.3603G>A (p.Gln1201=) c.3156G>A (p.Gln1052=) c.2493G>A (p.Gln831=) c.7008G>A (p.Gln2336=) n.8531G>A | |
| 5 | g.13792037T>A | CA359218950 | DNAH5 | c.8405A>T (p.Gln2802Leu) c.8360A>T (p.Gln2787Leu) n.8612A>T c.8513A>T (p.Gln2838Leu) c.7418A>T (p.Gln2473Leu) c.3602A>T (p.Gln1201Leu) c.3155A>T (p.Gln1052Leu) c.2492A>T (p.Gln831Leu) c.7007A>T (p.Gln2336Leu) n.8530A>T | |
| 5 | g.13792037T>C | CA359218947 | DNAH5 | c.8405A>G (p.Gln2802Arg) c.8360A>G (p.Gln2787Arg) n.8612A>G c.8513A>G (p.Gln2838Arg) c.7418A>G (p.Gln2473Arg) c.3602A>G (p.Gln1201Arg) c.3155A>G (p.Gln1052Arg) c.2492A>G (p.Gln831Arg) c.7007A>G (p.Gln2336Arg) n.8530A>G | gnomAD v4 |
| 5 | g.13792037T>G | CA359218944 | DNAH5 | c.8405A>C (p.Gln2802Pro) c.8360A>C (p.Gln2787Pro) n.8612A>C c.8513A>C (p.Gln2838Pro) c.7418A>C (p.Gln2473Pro) c.3602A>C (p.Gln1201Pro) c.3155A>C (p.Gln1052Pro) c.2492A>C (p.Gln831Pro) c.7007A>C (p.Gln2336Pro) n.8530A>C | |
| 5 | g.13792038G>A | CA359218951 | DNAH5 | c.8404C>T (p.Gln2802Ter) c.8359C>T (p.Gln2787Ter) n.8611C>T c.8512C>T (p.Gln2838Ter) c.7417C>T (p.Gln2473Ter) c.3601C>T (p.Gln1201Ter) c.3154C>T (p.Gln1052Ter) c.2491C>T (p.Gln831Ter) c.7006C>T (p.Gln2336Ter) n.8529C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13792038G>C | CA359218954 | DNAH5 | c.8404C>G (p.Gln2802Glu) c.8359C>G (p.Gln2787Glu) n.8611C>G c.8512C>G (p.Gln2838Glu) c.7417C>G (p.Gln2473Glu) c.3601C>G (p.Gln1201Glu) c.3154C>G (p.Gln1052Glu) c.2491C>G (p.Gln831Glu) c.7006C>G (p.Gln2336Glu) n.8529C>G | gnomAD v4 |
| 5 | g.13792038G= | CA1528440938 | DNAH5 | c.8404C= (p.Gln2802=) c.8359C= (p.Gln2787=) n.8611C= c.8512C= (p.Gln2838=) c.7417C= (p.Gln2473=) c.3601C= (p.Gln1201=) c.3154C= (p.Gln1052=) c.2491C= (p.Gln831=) c.7006C= (p.Gln2336=) n.8529C= | |
| 5 | g.13792038G>T | CA359218957 | DNAH5 | c.8404C>A (p.Gln2802Lys) c.8359C>A (p.Gln2787Lys) n.8611C>A c.8512C>A (p.Gln2838Lys) c.7417C>A (p.Gln2473Lys) c.3601C>A (p.Gln1201Lys) c.3154C>A (p.Gln1052Lys) c.2491C>A (p.Gln831Lys) c.7006C>A (p.Gln2336Lys) n.8529C>A |