OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13810047A= | CA1528448787 | DNAH5 | c.7609+12T= (n.7609+12T=) c.7564+12T= (n.7564+12T=) n.465+12T= n.7816+12T= c.7717+12T= (n.7717+12T=) c.6622+12T= (n.6622+12T=) c.2806+12T= (n.2806+12T=) c.2359+12T= (n.2359+12T=) c.1696+12T= (n.1696+12T=) c.6211+12T= (n.6211+12T=) n.7734+12T= | |
| 5 | g.13810047A>G | CA2673271810 | DNAH5 | c.7609+12T>C (n.7609+12T>C) c.7564+12T>C (n.7564+12T>C) n.465+12T>C n.7816+12T>C c.7717+12T>C (n.7717+12T>C) c.6622+12T>C (n.6622+12T>C) c.2806+12T>C (n.2806+12T>C) c.2359+12T>C (n.2359+12T>C) c.1696+12T>C (n.1696+12T>C) c.6211+12T>C (n.6211+12T>C) n.7734+12T>C | gnomAD v4 |
| 5 | g.13810047A>T | CA557873964 | DNAH5 | c.7609+12T>A (n.7609+12T>A) c.7564+12T>A (n.7564+12T>A) n.465+12T>A n.7816+12T>A c.7717+12T>A (n.7717+12T>A) c.6622+12T>A (n.6622+12T>A) c.2806+12T>A (n.2806+12T>A) c.2359+12T>A (n.2359+12T>A) c.1696+12T>A (n.1696+12T>A) c.6211+12T>A (n.6211+12T>A) n.7734+12T>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13810048G>A | CA2673271811 | DNAH5 | c.7609+11C>T (n.7609+11C>T) c.7564+11C>T (n.7564+11C>T) n.465+11C>T n.7816+11C>T c.7717+11C>T (n.7717+11C>T) c.6622+11C>T (n.6622+11C>T) c.2806+11C>T (n.2806+11C>T) c.2359+11C>T (n.2359+11C>T) c.1696+11C>T (n.1696+11C>T) c.6211+11C>T (n.6211+11C>T) n.7734+11C>T | gnomAD v4 |
| 5 | g.13810048G>T | CA2673271812 | DNAH5 | c.7609+11C>A (n.7609+11C>A) c.7564+11C>A (n.7564+11C>A) n.465+11C>A n.7816+11C>A c.7717+11C>A (n.7717+11C>A) c.6622+11C>A (n.6622+11C>A) c.2806+11C>A (n.2806+11C>A) c.2359+11C>A (n.2359+11C>A) c.1696+11C>A (n.1696+11C>A) c.6211+11C>A (n.6211+11C>A) n.7734+11C>A | gnomAD v4 |
| 5 | g.13810049G>A | CA2541890019 | DNAH5 | c.7609+10C>T (n.7609+10C>T) c.7564+10C>T (n.7564+10C>T) n.465+10C>T n.7816+10C>T c.7717+10C>T (n.7717+10C>T) c.6622+10C>T (n.6622+10C>T) c.2806+10C>T (n.2806+10C>T) c.2359+10C>T (n.2359+10C>T) c.1696+10C>T (n.1696+10C>T) c.6211+10C>T (n.6211+10C>T) n.7734+10C>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.13810050T>A | CA2673271813 | DNAH5 | c.7609+9A>T (n.7609+9A>T) c.7564+9A>T (n.7564+9A>T) n.465+9A>T n.7816+9A>T c.7717+9A>T (n.7717+9A>T) c.6622+9A>T (n.6622+9A>T) c.2806+9A>T (n.2806+9A>T) c.2359+9A>T (n.2359+9A>T) c.1696+9A>T (n.1696+9A>T) c.6211+9A>T (n.6211+9A>T) n.7734+9A>T | gnomAD v4 |
| 5 | g.13810051G>A | CA2739274645 | DNAH5 | c.7609+8C>T (n.7609+8C>T) c.7564+8C>T (n.7564+8C>T) n.465+8C>T n.7816+8C>T c.7717+8C>T (n.7717+8C>T) c.6622+8C>T (n.6622+8C>T) c.2806+8C>T (n.2806+8C>T) c.2359+8C>T (n.2359+8C>T) c.1696+8C>T (n.1696+8C>T) c.6211+8C>T (n.6211+8C>T) n.7734+8C>T | ClinVar |
| 5 | g.13810051G>T | CA2673271814 | DNAH5 | c.7609+8C>A (n.7609+8C>A) c.7564+8C>A (n.7564+8C>A) n.465+8C>A n.7816+8C>A c.7717+8C>A (n.7717+8C>A) c.6622+8C>A (n.6622+8C>A) c.2806+8C>A (n.2806+8C>A) c.2359+8C>A (n.2359+8C>A) c.1696+8C>A (n.1696+8C>A) c.6211+8C>A (n.6211+8C>A) n.7734+8C>A | gnomAD v4 |
| 5 | g.13810052T>A | CA2673271815 | DNAH5 | c.7609+7A>T (n.7609+7A>T) c.7564+7A>T (n.7564+7A>T) n.465+7A>T n.7816+7A>T c.7717+7A>T (n.7717+7A>T) c.6622+7A>T (n.6622+7A>T) c.2806+7A>T (n.2806+7A>T) c.2359+7A>T (n.2359+7A>T) c.1696+7A>T (n.1696+7A>T) c.6211+7A>T (n.6211+7A>T) n.7734+7A>T | gnomAD v4 |
| 5 | g.13810052T>C | CA3203065 | DNAH5 | c.7609+7A>G (n.7609+7A>G) c.7564+7A>G (n.7564+7A>G) n.465+7A>G n.7816+7A>G c.7717+7A>G (n.7717+7A>G) c.6622+7A>G (n.6622+7A>G) c.2806+7A>G (n.2806+7A>G) c.2359+7A>G (n.2359+7A>G) c.1696+7A>G (n.1696+7A>G) c.6211+7A>G (n.6211+7A>G) n.7734+7A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13810052T= | CA1528448788 | DNAH5 | c.7609+7A= (n.7609+7A=) c.7564+7A= (n.7564+7A=) n.465+7A= n.7816+7A= c.7717+7A= (n.7717+7A=) c.6622+7A= (n.6622+7A=) c.2806+7A= (n.2806+7A=) c.2359+7A= (n.2359+7A=) c.1696+7A= (n.1696+7A=) c.6211+7A= (n.6211+7A=) n.7734+7A= | |
| 5 | g.13810053C>A | CA645540984 | DNAH5 | c.7609+6G>T (n.7609+6G>T) c.7564+6G>T (n.7564+6G>T) n.465+6G>T n.7816+6G>T c.7717+6G>T (n.7717+6G>T) c.6622+6G>T (n.6622+6G>T) c.2806+6G>T (n.2806+6G>T) c.2359+6G>T (n.2359+6G>T) c.1696+6G>T (n.1696+6G>T) c.6211+6G>T (n.6211+6G>T) n.7734+6G>T | gnomAD v4 COSMIC |
| 5 | g.13810054C>A | CA2559714757 | DNAH5 | c.7609+5G>T (n.7609+5G>T) c.7564+5G>T (n.7564+5G>T) n.465+5G>T n.7816+5G>T c.7717+5G>T (n.7717+5G>T) c.6622+5G>T (n.6622+5G>T) c.2806+5G>T (n.2806+5G>T) c.2359+5G>T (n.2359+5G>T) c.1696+5G>T (n.1696+5G>T) c.6211+5G>T (n.6211+5G>T) n.7734+5G>T | gnomAD v4 |
| 5 | g.13810054C= | CA1528448789 | DNAH5 | c.7609+5G= (n.7609+5G=) c.7564+5G= (n.7564+5G=) n.465+5G= n.7816+5G= c.7717+5G= (n.7717+5G=) c.6622+5G= (n.6622+5G=) c.2806+5G= (n.2806+5G=) c.2359+5G= (n.2359+5G=) c.1696+5G= (n.1696+5G=) c.6211+5G= (n.6211+5G=) n.7734+5G= | |
| 5 | g.13810054C>G | CA2673271816 | DNAH5 | c.7609+5G>C (n.7609+5G>C) c.7564+5G>C (n.7564+5G>C) n.465+5G>C n.7816+5G>C c.7717+5G>C (n.7717+5G>C) c.6622+5G>C (n.6622+5G>C) c.2806+5G>C (n.2806+5G>C) c.2359+5G>C (n.2359+5G>C) c.1696+5G>C (n.1696+5G>C) c.6211+5G>C (n.6211+5G>C) n.7734+5G>C | gnomAD v4 |
| 5 | g.13810054C>T | CA557873965 | DNAH5 | c.7609+5G>A (n.7609+5G>A) c.7564+5G>A (n.7564+5G>A) n.465+5G>A n.7816+5G>A c.7717+5G>A (n.7717+5G>A) c.6622+5G>A (n.6622+5G>A) c.2806+5G>A (n.2806+5G>A) c.2359+5G>A (n.2359+5G>A) c.1696+5G>A (n.1696+5G>A) c.6211+5G>A (n.6211+5G>A) n.7734+5G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13810055_13810056del | CA2673271817 | DNAH5 | c.7609+4_7609+5del (n.7609+4_7609+5del) c.7564+4_7564+5del (n.7564+4_7564+5del) n.465+4_465+5del n.7816+4_7816+5del c.7717+4_7717+5del (n.7717+4_7717+5del) c.6622+4_6622+5del (n.6622+4_6622+5del) c.2806+4_2806+5del (n.2806+4_2806+5del) c.2359+4_2359+5del (n.2359+4_2359+5del) c.1696+4_1696+5del (n.1696+4_1696+5del) c.6211+4_6211+5del (n.6211+4_6211+5del) n.7734+4_7734+5del | gnomAD v4 |
| 5 | g.13810055T>C | CA2673271818 | DNAH5 | c.7609+4A>G (n.7609+4A>G) c.7564+4A>G (n.7564+4A>G) n.465+4A>G n.7816+4A>G c.7717+4A>G (n.7717+4A>G) c.6622+4A>G (n.6622+4A>G) c.2806+4A>G (n.2806+4A>G) c.2359+4A>G (n.2359+4A>G) c.1696+4A>G (n.1696+4A>G) c.6211+4A>G (n.6211+4A>G) n.7734+4A>G | gnomAD v4 |
| 5 | g.13810055_13810058delinsTCAC | CA1528448790 | DNAH5 | c.7609+1_7609+4delinsGTGA (n.7609+1_7609+4delinsGTGA) c.7564+1_7564+4delinsGTGA (n.7564+1_7564+4delinsGTGA) n.465+1_465+4delinsGTGA n.7816+1_7816+4delinsGTGA c.7717+1_7717+4delinsGTGA (n.7717+1_7717+4delinsGTGA) c.6622+1_6622+4delinsGTGA (n.6622+1_6622+4delinsGTGA) c.2806+1_2806+4delinsGTGA (n.2806+1_2806+4delinsGTGA) c.2359+1_2359+4delinsGTGA (n.2359+1_2359+4delinsGTGA) c.1696+1_1696+4delinsGTGA (n.1696+1_1696+4delinsGTGA) c.6211+1_6211+4delinsGTGA (n.6211+1_6211+4delinsGTGA) n.7734+1_7734+4delinsGTGA | |
| 5 | g.13810056C>A | CA2673271819 | DNAH5 | c.7609+3G>T (n.7609+3G>T) c.7564+3G>T (n.7564+3G>T) n.465+3G>T n.7816+3G>T c.7717+3G>T (n.7717+3G>T) c.6622+3G>T (n.6622+3G>T) c.2806+3G>T (n.2806+3G>T) c.2359+3G>T (n.2359+3G>T) c.1696+3G>T (n.1696+3G>T) c.6211+3G>T (n.6211+3G>T) n.7734+3G>T | gnomAD v4 |
| 5 | g.13810056C= | CA1528448792 | DNAH5 | c.7609+3G= (n.7609+3G=) c.7564+3G= (n.7564+3G=) n.465+3G= n.7816+3G= c.7717+3G= (n.7717+3G=) c.6622+3G= (n.6622+3G=) c.2806+3G= (n.2806+3G=) c.2359+3G= (n.2359+3G=) c.1696+3G= (n.1696+3G=) c.6211+3G= (n.6211+3G=) n.7734+3G= | |
| 5 | g.13810056C>T | CA113979012 | DNAH5 | c.7609+3G>A (n.7609+3G>A) c.7564+3G>A (n.7564+3G>A) n.465+3G>A n.7816+3G>A c.7717+3G>A (n.7717+3G>A) c.6622+3G>A (n.6622+3G>A) c.2806+3G>A (n.2806+3G>A) c.2359+3G>A (n.2359+3G>A) c.1696+3G>A (n.1696+3G>A) c.6211+3G>A (n.6211+3G>A) n.7734+3G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13810058_13810060del | CA3203066 | DNAH5 | c.7609+1_7609+3del c.7564+1_7564+3del n.465+1_465+3del n.7816+1_7816+3del c.7717+1_7717+3del c.6622+1_6622+3del c.2806+1_2806+3del c.2359+1_2359+3del c.1696+1_1696+3del c.6211+1_6211+3del n.7734+1_7734+3del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13810057A>C | CA359231183 | DNAH5 | c.7609+2T>G (n.7609+2T>G) c.7564+2T>G (n.7564+2T>G) n.465+2T>G n.7816+2T>G c.7717+2T>G (n.7717+2T>G) c.6622+2T>G (n.6622+2T>G) c.2806+2T>G (n.2806+2T>G) c.2359+2T>G (n.2359+2T>G) c.1696+2T>G (n.1696+2T>G) c.6211+2T>G (n.6211+2T>G) n.7734+2T>G | |
| 5 | g.13810057A>G | CA359231189 | DNAH5 | c.7609+2T>C (n.7609+2T>C) c.7564+2T>C (n.7564+2T>C) n.465+2T>C n.7816+2T>C c.7717+2T>C (n.7717+2T>C) c.6622+2T>C (n.6622+2T>C) c.2806+2T>C (n.2806+2T>C) c.2359+2T>C (n.2359+2T>C) c.1696+2T>C (n.1696+2T>C) c.6211+2T>C (n.6211+2T>C) n.7734+2T>C | gnomAD v4 |
| 5 | g.13810057A>T | CA359231186 | DNAH5 | c.7609+2T>A (n.7609+2T>A) c.7564+2T>A (n.7564+2T>A) n.465+2T>A n.7816+2T>A c.7717+2T>A (n.7717+2T>A) c.6622+2T>A (n.6622+2T>A) c.2806+2T>A (n.2806+2T>A) c.2359+2T>A (n.2359+2T>A) c.1696+2T>A (n.1696+2T>A) c.6211+2T>A (n.6211+2T>A) n.7734+2T>A | |
| 5 | g.13810058C>A | CA359231191 | DNAH5 | c.7609+1G>T (n.7609+1G>T) c.7564+1G>T (n.7564+1G>T) n.465+1G>T n.7816+1G>T c.7717+1G>T (n.7717+1G>T) c.6622+1G>T (n.6622+1G>T) c.2806+1G>T (n.2806+1G>T) c.2359+1G>T (n.2359+1G>T) c.1696+1G>T (n.1696+1G>T) c.6211+1G>T (n.6211+1G>T) n.7734+1G>T | gnomAD v4 |
| 5 | g.13810058C>G | CA359231193 | DNAH5 | c.7609+1G>C (n.7609+1G>C) c.7564+1G>C (n.7564+1G>C) n.465+1G>C n.7816+1G>C c.7717+1G>C (n.7717+1G>C) c.6622+1G>C (n.6622+1G>C) c.2806+1G>C (n.2806+1G>C) c.2359+1G>C (n.2359+1G>C) c.1696+1G>C (n.1696+1G>C) c.6211+1G>C (n.6211+1G>C) n.7734+1G>C | |
| 5 | g.13810058C>T | CA359231196 | DNAH5 | c.7609+1G>A (n.7609+1G>A) c.7564+1G>A (n.7564+1G>A) n.465+1G>A n.7816+1G>A c.7717+1G>A (n.7717+1G>A) c.6622+1G>A (n.6622+1G>A) c.2806+1G>A (n.2806+1G>A) c.2359+1G>A (n.2359+1G>A) c.1696+1G>A (n.1696+1G>A) c.6211+1G>A (n.6211+1G>A) n.7734+1G>A | gnomAD v4 |
| 5 | g.13810059C>A | CA359231200 | DNAH5 | c.7609G>T (p.Gly2537Cys) c.7564G>T (p.Gly2522Cys) n.465G>T n.7816G>T c.7717G>T (p.Gly2573Cys) c.6622G>T (p.Gly2208Cys) c.2806G>T (p.Gly936Cys) c.2359G>T (p.Gly787Cys) c.1696G>T (p.Gly566Cys) c.6211G>T (p.Gly2071Cys) n.7734G>T | gnomAD v4 |
| 5 | g.13810059C>G | CA359231203 | DNAH5 | c.7609G>C (p.Gly2537Arg) c.7564G>C (p.Gly2522Arg) n.465G>C n.7816G>C c.7717G>C (p.Gly2573Arg) c.6622G>C (p.Gly2208Arg) c.2806G>C (p.Gly936Arg) c.2359G>C (p.Gly787Arg) c.1696G>C (p.Gly566Arg) c.6211G>C (p.Gly2071Arg) n.7734G>C | |
| 5 | g.13810059C>T | CA359231206 | DNAH5 | c.7609G>A (p.Gly2537Ser) c.7564G>A (p.Gly2522Ser) n.465G>A n.7816G>A c.7717G>A (p.Gly2573Ser) c.6622G>A (p.Gly2208Ser) c.2806G>A (p.Gly936Ser) c.2359G>A (p.Gly787Ser) c.1696G>A (p.Gly566Ser) c.6211G>A (p.Gly2071Ser) n.7734G>A | |
| 5 | g.13810060A>C | CA359231211 | DNAH5 | c.7608T>G (p.Asp2536Glu) c.7563T>G (p.Asp2521Glu) n.464T>G n.7815T>G c.7716T>G (p.Asp2572Glu) c.6621T>G (p.Asp2207Glu) c.2805T>G (p.Asp935Glu) c.2358T>G (p.Asp786Glu) c.1695T>G (p.Asp565Glu) c.6210T>G (p.Asp2070Glu) n.7733T>G | |
| 5 | g.13810060A>G | CA443272547 | DNAH5 | c.7608T>C (p.Asp2536=) c.7563T>C (p.Asp2521=) n.464T>C n.7815T>C c.7716T>C (p.Asp2572=) c.6621T>C (p.Asp2207=) c.2805T>C (p.Asp935=) c.2358T>C (p.Asp786=) c.1695T>C (p.Asp565=) c.6210T>C (p.Asp2070=) n.7733T>C | dbSNP gnomAD v4 |
| 5 | g.13810060A>T | CA359231217 | DNAH5 | c.7608T>A (p.Asp2536Glu) c.7563T>A (p.Asp2521Glu) n.464T>A n.7815T>A c.7716T>A (p.Asp2572Glu) c.6621T>A (p.Asp2207Glu) c.2805T>A (p.Asp935Glu) c.2358T>A (p.Asp786Glu) c.1695T>A (p.Asp565Glu) c.6210T>A (p.Asp2070Glu) n.7733T>A | gnomAD v4 |
| 5 | g.13810061T>A | CA359231225 | DNAH5 | c.7607A>T (p.Asp2536Val) c.7562A>T (p.Asp2521Val) n.463A>T n.7814A>T c.7715A>T (p.Asp2572Val) c.6620A>T (p.Asp2207Val) c.2804A>T (p.Asp935Val) c.2357A>T (p.Asp786Val) c.1694A>T (p.Asp565Val) c.6209A>T (p.Asp2070Val) n.7732A>T | gnomAD v4 |
| 5 | g.13810061T>C | CA359231233 | DNAH5 | c.7607A>G (p.Asp2536Gly) c.7562A>G (p.Asp2521Gly) n.463A>G n.7814A>G c.7715A>G (p.Asp2572Gly) c.6620A>G (p.Asp2207Gly) c.2804A>G (p.Asp935Gly) c.2357A>G (p.Asp786Gly) c.1694A>G (p.Asp565Gly) c.6209A>G (p.Asp2070Gly) n.7732A>G | |
| 5 | g.13810061T>G | CA359231236 | DNAH5 | c.7607A>C (p.Asp2536Ala) c.7562A>C (p.Asp2521Ala) n.463A>C n.7814A>C c.7715A>C (p.Asp2572Ala) c.6620A>C (p.Asp2207Ala) c.2804A>C (p.Asp935Ala) c.2357A>C (p.Asp786Ala) c.1694A>C (p.Asp565Ala) c.6209A>C (p.Asp2070Ala) n.7732A>C | |
| 5 | g.13810062C>A | CA359231248 | DNAH5 | c.7606G>T (p.Asp2536Tyr) c.7561G>T (p.Asp2521Tyr) n.462G>T n.7813G>T c.7714G>T (p.Asp2572Tyr) c.6619G>T (p.Asp2207Tyr) c.2803G>T (p.Asp935Tyr) c.2356G>T (p.Asp786Tyr) c.1693G>T (p.Asp565Tyr) c.6208G>T (p.Asp2070Tyr) n.7731G>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13810062C= | CA1528448795 | DNAH5 | c.7606G= (p.Asp2536=) c.7561G= (p.Asp2521=) n.462G= n.7813G= c.7714G= (p.Asp2572=) c.6619G= (p.Asp2207=) c.2803G= (p.Asp935=) c.2356G= (p.Asp786=) c.1693G= (p.Asp565=) c.6208G= (p.Asp2070=) n.7731G= | |
| 5 | g.13810062C>G | CA359231249 | DNAH5 | c.7606G>C (p.Asp2536His) c.7561G>C (p.Asp2521His) n.462G>C n.7813G>C c.7714G>C (p.Asp2572His) c.6619G>C (p.Asp2207His) c.2803G>C (p.Asp935His) c.2356G>C (p.Asp786His) c.1693G>C (p.Asp565His) c.6208G>C (p.Asp2070His) n.7731G>C | gnomAD v4 |
| 5 | g.13810062C>T | CA359231239 | DNAH5 | c.7606G>A (p.Asp2536Asn) c.7561G>A (p.Asp2521Asn) n.462G>A n.7813G>A c.7714G>A (p.Asp2572Asn) c.6619G>A (p.Asp2207Asn) c.2803G>A (p.Asp935Asn) c.2356G>A (p.Asp786Asn) c.1693G>A (p.Asp565Asn) c.6208G>A (p.Asp2070Asn) n.7731G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13810062_13810063insAGCACCCA | CA2580072015 | DNAH5 | c.7605_7606insTGGGTGCT (p.Asp2536TrpfsTer?) c.7560_7561insTGGGTGCT (p.Asp2521TrpfsTer?) n.461_462insTGGGTGCT n.7812_7813insTGGGTGCT c.7713_7714insTGGGTGCT (p.Asp2572TrpfsTer?) c.6618_6619insTGGGTGCT (p.Asp2207TrpfsTer?) c.2802_2803insTGGGTGCT (p.Asp935TrpfsTer?) c.2355_2356insTGGGTGCT (p.Asp786TrpfsTer?) c.1692_1693insTGGGTGCT (p.Asp565TrpfsTer?) c.6207_6208insTGGGTGCT (p.Asp2070TrpfsTer?) n.7730_7731insTGGGTGCT | ClinVar |
| 5 | g.13810063G>A | CA3203067 | DNAH5 | c.7605C>T (p.Pro2535=) c.7560C>T (p.Pro2520=) n.461C>T n.7812C>T c.7713C>T (p.Pro2571=) c.6618C>T (p.Pro2206=) c.2802C>T (p.Pro934=) c.2355C>T (p.Pro785=) c.1692C>T (p.Pro564=) c.6207C>T (p.Pro2069=) n.7730C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13810063G>C | CA443272548 | DNAH5 | c.7605C>G (p.Pro2535=) c.7560C>G (p.Pro2520=) n.461C>G n.7812C>G c.7713C>G (p.Pro2571=) c.6618C>G (p.Pro2206=) c.2802C>G (p.Pro934=) c.2355C>G (p.Pro785=) c.1692C>G (p.Pro564=) c.6207C>G (p.Pro2069=) n.7730C>G | |
| 5 | g.13810063G= | CA1528448797 | DNAH5 | c.7605C= (p.Pro2535=) c.7560C= (p.Pro2520=) n.461C= n.7812C= c.7713C= (p.Pro2571=) c.6618C= (p.Pro2206=) c.2802C= (p.Pro934=) c.2355C= (p.Pro785=) c.1692C= (p.Pro564=) c.6207C= (p.Pro2069=) n.7730C= | |
| 5 | g.13810063G>T | CA443272549 | DNAH5 | c.7605C>A (p.Pro2535=) c.7560C>A (p.Pro2520=) n.461C>A n.7812C>A c.7713C>A (p.Pro2571=) c.6618C>A (p.Pro2206=) c.2802C>A (p.Pro934=) c.2355C>A (p.Pro785=) c.1692C>A (p.Pro564=) c.6207C>A (p.Pro2069=) n.7730C>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13810065del | CA2673271820 | DNAH5 | c.7605del (p.Asp2536MetfsTer?) c.7560del (p.Asp2521MetfsTer?) n.461del n.7812del c.7713del (p.Asp2572MetfsTer?) c.6618del (p.Asp2207MetfsTer?) c.2802del (p.Asp935MetfsTer?) c.2355del (p.Asp786MetfsTer?) c.1692del (p.Asp565MetfsTer?) c.6207del (p.Asp2070MetfsTer?) n.7730del | gnomAD v4 |
| 5 | g.13810064G>A | CA359231252 | DNAH5 | c.7604C>T (p.Pro2535Leu) c.7559C>T (p.Pro2520Leu) n.460C>T n.7811C>T c.7712C>T (p.Pro2571Leu) c.6617C>T (p.Pro2206Leu) c.2801C>T (p.Pro934Leu) c.2354C>T (p.Pro785Leu) c.1691C>T (p.Pro564Leu) c.6206C>T (p.Pro2069Leu) n.7729C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13810064G>C | CA359231258 | DNAH5 | c.7604C>G (p.Pro2535Arg) c.7559C>G (p.Pro2520Arg) n.460C>G n.7811C>G c.7712C>G (p.Pro2571Arg) c.6617C>G (p.Pro2206Arg) c.2801C>G (p.Pro934Arg) c.2354C>G (p.Pro785Arg) c.1691C>G (p.Pro564Arg) c.6206C>G (p.Pro2069Arg) n.7729C>G | |
| 5 | g.13810064G= | CA1528448799 | DNAH5 | c.7604C= (p.Pro2535=) c.7559C= (p.Pro2520=) n.460C= n.7811C= c.7712C= (p.Pro2571=) c.6617C= (p.Pro2206=) c.2801C= (p.Pro934=) c.2354C= (p.Pro785=) c.1691C= (p.Pro564=) c.6206C= (p.Pro2069=) n.7729C= | |
| 5 | g.13810064G>T | CA359231261 | DNAH5 | c.7604C>A (p.Pro2535His) c.7559C>A (p.Pro2520His) n.460C>A n.7811C>A c.7712C>A (p.Pro2571His) c.6617C>A (p.Pro2206His) c.2801C>A (p.Pro934His) c.2354C>A (p.Pro785His) c.1691C>A (p.Pro564His) c.6206C>A (p.Pro2069His) n.7729C>A | gnomAD v4 |
| 5 | g.13810065G>A | CA359231276 | DNAH5 | c.7603C>T (p.Pro2535Ser) c.7558C>T (p.Pro2520Ser) n.459C>T n.7810C>T c.7711C>T (p.Pro2571Ser) c.6616C>T (p.Pro2206Ser) c.2800C>T (p.Pro934Ser) c.2353C>T (p.Pro785Ser) c.1690C>T (p.Pro564Ser) c.6205C>T (p.Pro2069Ser) n.7728C>T | gnomAD v4 |
| 5 | g.13810065G>C | CA359231285 | DNAH5 | c.7603C>G (p.Pro2535Ala) c.7558C>G (p.Pro2520Ala) n.459C>G n.7810C>G c.7711C>G (p.Pro2571Ala) c.6616C>G (p.Pro2206Ala) c.2800C>G (p.Pro934Ala) c.2353C>G (p.Pro785Ala) c.1690C>G (p.Pro564Ala) c.6205C>G (p.Pro2069Ala) n.7728C>G | gnomAD v4 |
| 5 | g.13810065G>T | CA359231287 | DNAH5 | c.7603C>A (p.Pro2535Thr) c.7558C>A (p.Pro2520Thr) n.459C>A n.7810C>A c.7711C>A (p.Pro2571Thr) c.6616C>A (p.Pro2206Thr) c.2800C>A (p.Pro934Thr) c.2353C>A (p.Pro785Thr) c.1690C>A (p.Pro564Thr) c.6205C>A (p.Pro2069Thr) n.7728C>A | gnomAD v4 |
| 5 | g.13810067_13810068dup | CA2673271821 | DNAH5 | c.7602_7603dup (p.Pro2535ArgfsTer?) c.7557_7558dup (p.Pro2520ArgfsTer?) n.458_459dup n.7809_7810dup c.7710_7711dup (p.Pro2571ArgfsTer?) c.6615_6616dup (p.Pro2206ArgfsTer?) c.2799_2800dup (p.Pro934ArgfsTer?) c.2352_2353dup (p.Pro785ArgfsTer?) c.1689_1690dup (p.Pro564ArgfsTer?) c.6204_6205dup (p.Pro2069ArgfsTer?) n.7727_7728dup | gnomAD v4 |
| 5 | g.13810066C>A | CA3203068 | DNAH5 | c.7602G>T (p.Ala2534=) c.7557G>T (p.Ala2519=) n.458G>T n.7809G>T c.7710G>T (p.Ala2570=) c.6615G>T (p.Ala2205=) c.2799G>T (p.Ala933=) c.2352G>T (p.Ala784=) c.1689G>T (p.Ala563=) c.6204G>T (p.Ala2068=) n.7727G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13810066C= | CA1528448801 | DNAH5 | c.7602G= (p.Ala2534=) c.7557G= (p.Ala2519=) n.458G= n.7809G= c.7710G= (p.Ala2570=) c.6615G= (p.Ala2205=) c.2799G= (p.Ala933=) c.2352G= (p.Ala784=) c.1689G= (p.Ala563=) c.6204G= (p.Ala2068=) n.7727G= | |
| 5 | g.13810066C>G | CA443272550 | DNAH5 | c.7602G>C (p.Ala2534=) c.7557G>C (p.Ala2519=) n.458G>C n.7809G>C c.7710G>C (p.Ala2570=) c.6615G>C (p.Ala2205=) c.2799G>C (p.Ala933=) c.2352G>C (p.Ala784=) c.1689G>C (p.Ala563=) c.6204G>C (p.Ala2068=) n.7727G>C | |
| 5 | g.13810066C>T | CA443272551 | DNAH5 | c.7602G>A (p.Ala2534=) c.7557G>A (p.Ala2519=) n.458G>A n.7809G>A c.7710G>A (p.Ala2570=) c.6615G>A (p.Ala2205=) c.2799G>A (p.Ala933=) c.2352G>A (p.Ala784=) c.1689G>A (p.Ala563=) c.6204G>A (p.Ala2068=) n.7727G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13810067G>A | CA3203069 | DNAH5 | c.7601C>T (p.Ala2534Val) c.7556C>T (p.Ala2519Val) n.457C>T n.7808C>T c.7709C>T (p.Ala2570Val) c.6614C>T (p.Ala2205Val) c.2798C>T (p.Ala933Val) c.2351C>T (p.Ala784Val) c.1688C>T (p.Ala563Val) c.6203C>T (p.Ala2068Val) n.7726C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13810067G>C | CA359231301 | DNAH5 | c.7601C>G (p.Ala2534Gly) c.7556C>G (p.Ala2519Gly) n.457C>G n.7808C>G c.7709C>G (p.Ala2570Gly) c.6614C>G (p.Ala2205Gly) c.2798C>G (p.Ala933Gly) c.2351C>G (p.Ala784Gly) c.1688C>G (p.Ala563Gly) c.6203C>G (p.Ala2068Gly) n.7726C>G | gnomAD v4 |
| 5 | g.13810067G= | CA1528448803 | DNAH5 | c.7601C= (p.Ala2534=) c.7556C= (p.Ala2519=) n.457C= n.7808C= c.7709C= (p.Ala2570=) c.6614C= (p.Ala2205=) c.2798C= (p.Ala933=) c.2351C= (p.Ala784=) c.1688C= (p.Ala563=) c.6203C= (p.Ala2068=) n.7726C= | |
| 5 | g.13810067G>T | CA359231302 | DNAH5 | c.7601C>A (p.Ala2534Glu) c.7556C>A (p.Ala2519Glu) n.457C>A n.7808C>A c.7709C>A (p.Ala2570Glu) c.6614C>A (p.Ala2205Glu) c.2798C>A (p.Ala933Glu) c.2351C>A (p.Ala784Glu) c.1688C>A (p.Ala563Glu) c.6203C>A (p.Ala2068Glu) n.7726C>A | gnomAD v4 |
| 5 | g.13810068C>A | CA359231303 | DNAH5 | c.7600G>T (p.Ala2534Ser) c.7555G>T (p.Ala2519Ser) n.456G>T n.7807G>T c.7708G>T (p.Ala2570Ser) c.6613G>T (p.Ala2205Ser) c.2797G>T (p.Ala933Ser) c.2350G>T (p.Ala784Ser) c.1687G>T (p.Ala563Ser) c.6202G>T (p.Ala2068Ser) n.7725G>T | gnomAD v4 |
| 5 | g.13810068C>G | CA359231306 | DNAH5 | c.7600G>C (p.Ala2534Pro) c.7555G>C (p.Ala2519Pro) n.456G>C n.7807G>C c.7708G>C (p.Ala2570Pro) c.6613G>C (p.Ala2205Pro) c.2797G>C (p.Ala933Pro) c.2350G>C (p.Ala784Pro) c.1687G>C (p.Ala563Pro) c.6202G>C (p.Ala2068Pro) n.7725G>C | |
| 5 | g.13810068C>T | CA359231315 | DNAH5 | c.7600G>A (p.Ala2534Thr) c.7555G>A (p.Ala2519Thr) n.456G>A n.7807G>A c.7708G>A (p.Ala2570Thr) c.6613G>A (p.Ala2205Thr) c.2797G>A (p.Ala933Thr) c.2350G>A (p.Ala784Thr) c.1687G>A (p.Ala563Thr) c.6202G>A (p.Ala2068Thr) n.7725G>A | gnomAD v4 |
| 5 | g.13810069C>A | CA443272552 | DNAH5 | c.7599G>T (p.Val2533=) c.7554G>T (p.Val2518=) n.455G>T n.7806G>T c.7707G>T (p.Val2569=) c.6612G>T (p.Val2204=) c.2796G>T (p.Val932=) c.2349G>T (p.Val783=) c.1686G>T (p.Val562=) c.6201G>T (p.Val2067=) n.7724G>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.13810069C>G | CA443272553 | DNAH5 | c.7599G>C (p.Val2533=) c.7554G>C (p.Val2518=) n.455G>C n.7806G>C c.7707G>C (p.Val2569=) c.6612G>C (p.Val2204=) c.2796G>C (p.Val932=) c.2349G>C (p.Val783=) c.1686G>C (p.Val562=) c.6201G>C (p.Val2067=) n.7724G>C | |
| 5 | g.13810069C>T | CA443272554 | DNAH5 | c.7599G>A (p.Val2533=) c.7554G>A (p.Val2518=) n.455G>A n.7806G>A c.7707G>A (p.Val2569=) c.6612G>A (p.Val2204=) c.2796G>A (p.Val932=) c.2349G>A (p.Val783=) c.1686G>A (p.Val562=) c.6201G>A (p.Val2067=) n.7724G>A | gnomAD v4 |
| 5 | g.13810070A>C | CA359231330 | DNAH5 | c.7598T>G (p.Val2533Gly) c.7553T>G (p.Val2518Gly) n.454T>G n.7805T>G c.7706T>G (p.Val2569Gly) c.6611T>G (p.Val2204Gly) c.2795T>G (p.Val932Gly) c.2348T>G (p.Val783Gly) c.1685T>G (p.Val562Gly) c.6200T>G (p.Val2067Gly) n.7723T>G | |
| 5 | g.13810070A>G | CA359231319 | DNAH5 | c.7598T>C (p.Val2533Ala) c.7553T>C (p.Val2518Ala) n.454T>C n.7805T>C c.7706T>C (p.Val2569Ala) c.6611T>C (p.Val2204Ala) c.2795T>C (p.Val932Ala) c.2348T>C (p.Val783Ala) c.1685T>C (p.Val562Ala) c.6200T>C (p.Val2067Ala) n.7723T>C | gnomAD v4 |
| 5 | g.13810070A>T | CA359231326 | DNAH5 | c.7598T>A (p.Val2533Glu) c.7553T>A (p.Val2518Glu) n.454T>A n.7805T>A c.7706T>A (p.Val2569Glu) c.6611T>A (p.Val2204Glu) c.2795T>A (p.Val932Glu) c.2348T>A (p.Val783Glu) c.1685T>A (p.Val562Glu) c.6200T>A (p.Val2067Glu) n.7723T>A | |
| 5 | g.13810071C>A | CA359231336 | DNAH5 | c.7597G>T (p.Val2533Leu) c.7552G>T (p.Val2518Leu) n.453G>T n.7804G>T c.7705G>T (p.Val2569Leu) c.6610G>T (p.Val2204Leu) c.2794G>T (p.Val932Leu) c.2347G>T (p.Val783Leu) c.1684G>T (p.Val562Leu) c.6199G>T (p.Val2067Leu) n.7722G>T | gnomAD v4 |
| 5 | g.13810071C= | CA1528448805 | DNAH5 | c.7597G= (p.Val2533=) c.7552G= (p.Val2518=) n.453G= n.7804G= c.7705G= (p.Val2569=) c.6610G= (p.Val2204=) c.2794G= (p.Val932=) c.2347G= (p.Val783=) c.1684G= (p.Val562=) c.6199G= (p.Val2067=) n.7722G= | |
| 5 | g.13810071C>G | CA359231339 | DNAH5 | c.7597G>C (p.Val2533Leu) c.7552G>C (p.Val2518Leu) n.453G>C n.7804G>C c.7705G>C (p.Val2569Leu) c.6610G>C (p.Val2204Leu) c.2794G>C (p.Val932Leu) c.2347G>C (p.Val783Leu) c.1684G>C (p.Val562Leu) c.6199G>C (p.Val2067Leu) n.7722G>C | |
| 5 | g.13810071C>T | CA359231348 | DNAH5 | c.7597G>A (p.Val2533Met) c.7552G>A (p.Val2518Met) n.453G>A n.7804G>A c.7705G>A (p.Val2569Met) c.6610G>A (p.Val2204Met) c.2794G>A (p.Val932Met) c.2347G>A (p.Val783Met) c.1684G>A (p.Val562Met) c.6199G>A (p.Val2067Met) n.7722G>A | dbSNP gnomAD v4 |
| 5 | g.13810072A= | CA1528448807 | DNAH5 | c.7596T= (p.Tyr2532=) c.7551T= (p.Tyr2517=) n.452T= n.7803T= c.7704T= (p.Tyr2568=) c.6609T= (p.Tyr2203=) c.2793T= (p.Tyr931=) c.2346T= (p.Tyr782=) c.1683T= (p.Tyr561=) c.6198T= (p.Tyr2066=) n.7721T= | |
| 5 | g.13810072A>C | CA359231350 | DNAH5 | c.7596T>G (p.Tyr2532Ter) c.7551T>G (p.Tyr2517Ter) n.452T>G n.7803T>G c.7704T>G (p.Tyr2568Ter) c.6609T>G (p.Tyr2203Ter) c.2793T>G (p.Tyr931Ter) c.2346T>G (p.Tyr782Ter) c.1683T>G (p.Tyr561Ter) c.6198T>G (p.Tyr2066Ter) n.7721T>G | |
| 5 | g.13810072A>G | CA113979031 | DNAH5 | c.7596T>C (p.Tyr2532=) c.7551T>C (p.Tyr2517=) n.452T>C n.7803T>C c.7704T>C (p.Tyr2568=) c.6609T>C (p.Tyr2203=) c.2793T>C (p.Tyr931=) c.2346T>C (p.Tyr782=) c.1683T>C (p.Tyr561=) c.6198T>C (p.Tyr2066=) n.7721T>C | ClinVar dbSNP gnomAD v4 |
| 5 | g.13810072A>T | CA359231351 | DNAH5 | c.7596T>A (p.Tyr2532Ter) c.7551T>A (p.Tyr2517Ter) n.452T>A n.7803T>A c.7704T>A (p.Tyr2568Ter) c.6609T>A (p.Tyr2203Ter) c.2793T>A (p.Tyr931Ter) c.2346T>A (p.Tyr782Ter) c.1683T>A (p.Tyr561Ter) c.6198T>A (p.Tyr2066Ter) n.7721T>A | ClinVar gnomAD v4 |
| 5 | g.13810073T>A | CA359231352 | DNAH5 | c.7595A>T (p.Tyr2532Phe) c.7550A>T (p.Tyr2517Phe) n.451A>T n.7802A>T c.7703A>T (p.Tyr2568Phe) c.6608A>T (p.Tyr2203Phe) c.2792A>T (p.Tyr931Phe) c.2345A>T (p.Tyr782Phe) c.1682A>T (p.Tyr561Phe) c.6197A>T (p.Tyr2066Phe) n.7720A>T | gnomAD v4 |
| 5 | g.13810073T>C | CA359231353 | DNAH5 | c.7595A>G (p.Tyr2532Cys) c.7550A>G (p.Tyr2517Cys) n.451A>G n.7802A>G c.7703A>G (p.Tyr2568Cys) c.6608A>G (p.Tyr2203Cys) c.2792A>G (p.Tyr931Cys) c.2345A>G (p.Tyr782Cys) c.1682A>G (p.Tyr561Cys) c.6197A>G (p.Tyr2066Cys) n.7720A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13810073T>G | CA359231354 | DNAH5 | c.7595A>C (p.Tyr2532Ser) c.7550A>C (p.Tyr2517Ser) n.451A>C n.7802A>C c.7703A>C (p.Tyr2568Ser) c.6608A>C (p.Tyr2203Ser) c.2792A>C (p.Tyr931Ser) c.2345A>C (p.Tyr782Ser) c.1682A>C (p.Tyr561Ser) c.6197A>C (p.Tyr2066Ser) n.7720A>C | |
| 5 | g.13810073T= | CA1528448809 | DNAH5 | c.7595A= (p.Tyr2532=) c.7550A= (p.Tyr2517=) n.451A= n.7802A= c.7703A= (p.Tyr2568=) c.6608A= (p.Tyr2203=) c.2792A= (p.Tyr931=) c.2345A= (p.Tyr782=) c.1682A= (p.Tyr561=) c.6197A= (p.Tyr2066=) n.7720A= | |
| 5 | g.13810077_13810079del | CA2695204390 | DNAH5 | c.7593_7595del (p.Tyr2532del) c.7548_7550del (p.Tyr2517del) n.449_451del n.7800_7802del c.7701_7703del (p.Tyr2568del) c.6606_6608del (p.Tyr2203del) c.2790_2792del (p.Tyr931del) c.2343_2345del (p.Tyr782del) c.1680_1682del (p.Tyr561del) c.6195_6197del (p.Tyr2066del) n.7718_7720del | |
| 5 | g.13810074A= | CA1528448811 | DNAH5 | c.7594T= (p.Tyr2532=) c.7549T= (p.Tyr2517=) n.450T= n.7801T= c.7702T= (p.Tyr2568=) c.6607T= (p.Tyr2203=) c.2791T= (p.Tyr931=) c.2344T= (p.Tyr782=) c.1681T= (p.Tyr561=) c.6196T= (p.Tyr2066=) n.7719T= | |
| 5 | g.13810074A>C | CA359231358 | DNAH5 | c.7594T>G (p.Tyr2532Asp) c.7549T>G (p.Tyr2517Asp) n.450T>G n.7801T>G c.7702T>G (p.Tyr2568Asp) c.6607T>G (p.Tyr2203Asp) c.2791T>G (p.Tyr931Asp) c.2344T>G (p.Tyr782Asp) c.1681T>G (p.Tyr561Asp) c.6196T>G (p.Tyr2066Asp) n.7719T>G | |
| 5 | g.13810074A>G | CA113979037 | DNAH5 | c.7594T>C (p.Tyr2532His) c.7549T>C (p.Tyr2517His) n.450T>C n.7801T>C c.7702T>C (p.Tyr2568His) c.6607T>C (p.Tyr2203His) c.2791T>C (p.Tyr931His) c.2344T>C (p.Tyr782His) c.1681T>C (p.Tyr561His) c.6196T>C (p.Tyr2066His) n.7719T>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13810074A>T | CA359231363 | DNAH5 | c.7594T>A (p.Tyr2532Asn) c.7549T>A (p.Tyr2517Asn) n.450T>A n.7801T>A c.7702T>A (p.Tyr2568Asn) c.6607T>A (p.Tyr2203Asn) c.2791T>A (p.Tyr931Asn) c.2344T>A (p.Tyr782Asn) c.1681T>A (p.Tyr561Asn) c.6196T>A (p.Tyr2066Asn) n.7719T>A | |
| 5 | g.13810075G>A | CA443272555 | DNAH5 | c.7593C>T (p.Tyr2531=) c.7548C>T (p.Tyr2516=) n.449C>T n.7800C>T c.7701C>T (p.Tyr2567=) c.6606C>T (p.Tyr2202=) c.2790C>T (p.Tyr930=) c.2343C>T (p.Tyr781=) c.1680C>T (p.Tyr560=) c.6195C>T (p.Tyr2065=) n.7718C>T | ClinVar gnomAD v4 |
| 5 | g.13810075G>C | CA359231367 | DNAH5 | c.7593C>G (p.Tyr2531Ter) c.7548C>G (p.Tyr2516Ter) n.449C>G n.7800C>G c.7701C>G (p.Tyr2567Ter) c.6606C>G (p.Tyr2202Ter) c.2790C>G (p.Tyr930Ter) c.2343C>G (p.Tyr781Ter) c.1680C>G (p.Tyr560Ter) c.6195C>G (p.Tyr2065Ter) n.7718C>G | |
| 5 | g.13810075G>T | CA359231376 | DNAH5 | c.7593C>A (p.Tyr2531Ter) c.7548C>A (p.Tyr2516Ter) n.449C>A n.7800C>A c.7701C>A (p.Tyr2567Ter) c.6606C>A (p.Tyr2202Ter) c.2790C>A (p.Tyr930Ter) c.2343C>A (p.Tyr781Ter) c.1680C>A (p.Tyr560Ter) c.6195C>A (p.Tyr2065Ter) n.7718C>A | gnomAD v4 |
| 5 | g.13810076T>A | CA359231379 | DNAH5 | c.7592A>T (p.Tyr2531Phe) c.7547A>T (p.Tyr2516Phe) n.448A>T n.7799A>T c.7700A>T (p.Tyr2567Phe) c.6605A>T (p.Tyr2202Phe) c.2789A>T (p.Tyr930Phe) c.2342A>T (p.Tyr781Phe) c.1679A>T (p.Tyr560Phe) c.6194A>T (p.Tyr2065Phe) n.7717A>T | gnomAD v4 |
| 5 | g.13810076T>C | CA359231381 | DNAH5 | c.7592A>G (p.Tyr2531Cys) c.7547A>G (p.Tyr2516Cys) n.448A>G n.7799A>G c.7700A>G (p.Tyr2567Cys) c.6605A>G (p.Tyr2202Cys) c.2789A>G (p.Tyr930Cys) c.2342A>G (p.Tyr781Cys) c.1679A>G (p.Tyr560Cys) c.6194A>G (p.Tyr2065Cys) n.7717A>G | gnomAD v4 |
| 5 | g.13810076T>G | CA359231380 | DNAH5 | c.7592A>C (p.Tyr2531Ser) c.7547A>C (p.Tyr2516Ser) n.448A>C n.7799A>C c.7700A>C (p.Tyr2567Ser) c.6605A>C (p.Tyr2202Ser) c.2789A>C (p.Tyr930Ser) c.2342A>C (p.Tyr781Ser) c.1679A>C (p.Tyr560Ser) c.6194A>C (p.Tyr2065Ser) n.7717A>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13810076T= | CA1528448813 | DNAH5 | c.7592A= (p.Tyr2531=) c.7547A= (p.Tyr2516=) n.448A= n.7799A= c.7700A= (p.Tyr2567=) c.6605A= (p.Tyr2202=) c.2789A= (p.Tyr930=) c.2342A= (p.Tyr781=) c.1679A= (p.Tyr560=) c.6194A= (p.Tyr2065=) n.7717A= | |
| 5 | g.13810077A= | CA1528448815 | DNAH5 | c.7591T= (p.Tyr2531=) c.7546T= (p.Tyr2516=) n.447T= n.7798T= c.7699T= (p.Tyr2567=) c.6604T= (p.Tyr2202=) c.2788T= (p.Tyr930=) c.2341T= (p.Tyr781=) c.1678T= (p.Tyr560=) c.6193T= (p.Tyr2065=) n.7716T= | |
| 5 | g.13810077A>C | CA359231382 | DNAH5 | c.7591T>G (p.Tyr2531Asp) c.7546T>G (p.Tyr2516Asp) n.447T>G n.7798T>G c.7699T>G (p.Tyr2567Asp) c.6604T>G (p.Tyr2202Asp) c.2788T>G (p.Tyr930Asp) c.2341T>G (p.Tyr781Asp) c.1678T>G (p.Tyr560Asp) c.6193T>G (p.Tyr2065Asp) n.7716T>G | |
| 5 | g.13810077A>G | CA359231384 | DNAH5 | c.7591T>C (p.Tyr2531His) c.7546T>C (p.Tyr2516His) n.447T>C n.7798T>C c.7699T>C (p.Tyr2567His) c.6604T>C (p.Tyr2202His) c.2788T>C (p.Tyr930His) c.2341T>C (p.Tyr781His) c.1678T>C (p.Tyr560His) c.6193T>C (p.Tyr2065His) n.7716T>C | |
| 5 | g.13810077A>T | CA359231386 | DNAH5 | c.7591T>A (p.Tyr2531Asn) c.7546T>A (p.Tyr2516Asn) n.447T>A n.7798T>A c.7699T>A (p.Tyr2567Asn) c.6604T>A (p.Tyr2202Asn) c.2788T>A (p.Tyr930Asn) c.2341T>A (p.Tyr781Asn) c.1678T>A (p.Tyr560Asn) c.6193T>A (p.Tyr2065Asn) n.7716T>A | dbSNP gnomAD v4 |
| 5 | g.13810077_13810089delinsAGTCGAAGGCGGT | CA1528448817 | DNAH5 | c.7579_7591delinsACCGCCTTCGACT (p.Thr2527=) c.7534_7546delinsACCGCCTTCGACT (p.Thr2512=) n.435_447delinsACCGCCTTCGACT n.7786_7798delinsACCGCCTTCGACT c.7687_7699delinsACCGCCTTCGACT (p.Thr2563=) c.6592_6604delinsACCGCCTTCGACT (p.Thr2198=) c.2776_2788delinsACCGCCTTCGACT (p.Thr926=) c.2329_2341delinsACCGCCTTCGACT (p.Thr777=) c.1666_1678delinsACCGCCTTCGACT (p.Thr556=) c.6181_6193delinsACCGCCTTCGACT (p.Thr2061=) n.7704_7716delinsACCGCCTTCGACT | |
| 5 | g.13810078G>A | CA443272556 | DNAH5 | c.7590C>T (p.Asp2530=) c.7545C>T (p.Asp2515=) n.446C>T n.7797C>T c.7698C>T (p.Asp2566=) c.6603C>T (p.Asp2201=) c.2787C>T (p.Asp929=) c.2340C>T (p.Asp780=) c.1677C>T (p.Asp559=) c.6192C>T (p.Asp2064=) n.7715C>T | |
| 5 | g.13810078G>C | CA359231389 | DNAH5 | c.7590C>G (p.Asp2530Glu) c.7545C>G (p.Asp2515Glu) n.446C>G n.7797C>G c.7698C>G (p.Asp2566Glu) c.6603C>G (p.Asp2201Glu) c.2787C>G (p.Asp929Glu) c.2340C>G (p.Asp780Glu) c.1677C>G (p.Asp559Glu) c.6192C>G (p.Asp2064Glu) n.7715C>G | |
| 5 | g.13810078G>T | CA359231390 | DNAH5 | c.7590C>A (p.Asp2530Glu) c.7545C>A (p.Asp2515Glu) n.446C>A n.7797C>A c.7698C>A (p.Asp2566Glu) c.6603C>A (p.Asp2201Glu) c.2787C>A (p.Asp929Glu) c.2340C>A (p.Asp780Glu) c.1677C>A (p.Asp559Glu) c.6192C>A (p.Asp2064Glu) n.7715C>A | gnomAD v4 |
| 5 | g.13810081_13810092del | CA658655858 | DNAH5 | c.7579_7590del (p.Thr2527_Asp2530del) c.7534_7545del (p.Thr2512_Asp2515del) n.435_446del n.7786_7797del c.7687_7698del (p.Thr2563_Asp2566del) c.6592_6603del (p.Thr2198_Asp2201del) c.2776_2787del (p.Thr926_Asp929del) c.2329_2340del (p.Thr777_Asp780del) c.1666_1677del (p.Thr556_Asp559del) c.6181_6192del (p.Thr2061_Asp2064del) n.7704_7715del | ClinVar dbSNP gnomAD v4 |
| 5 | g.13810079T>A | CA359231395 | DNAH5 | c.7589A>T (p.Asp2530Val) c.7544A>T (p.Asp2515Val) n.445A>T n.7796A>T c.7697A>T (p.Asp2566Val) c.6602A>T (p.Asp2201Val) c.2786A>T (p.Asp929Val) c.2339A>T (p.Asp780Val) c.1676A>T (p.Asp559Val) c.6191A>T (p.Asp2064Val) n.7714A>T | gnomAD v4 |
| 5 | g.13810079T>C | CA359231408 | DNAH5 | c.7589A>G (p.Asp2530Gly) c.7544A>G (p.Asp2515Gly) n.445A>G n.7796A>G c.7697A>G (p.Asp2566Gly) c.6602A>G (p.Asp2201Gly) c.2786A>G (p.Asp929Gly) c.2339A>G (p.Asp780Gly) c.1676A>G (p.Asp559Gly) c.6191A>G (p.Asp2064Gly) n.7714A>G | dbSNP gnomAD v2 |
| 5 | g.13810079T>G | CA359231413 | DNAH5 | c.7589A>C (p.Asp2530Ala) c.7544A>C (p.Asp2515Ala) n.445A>C n.7796A>C c.7697A>C (p.Asp2566Ala) c.6602A>C (p.Asp2201Ala) c.2786A>C (p.Asp929Ala) c.2339A>C (p.Asp780Ala) c.1676A>C (p.Asp559Ala) c.6191A>C (p.Asp2064Ala) n.7714A>C | |
| 5 | g.13810079T= | CA1528448821 | DNAH5 | c.7589A= (p.Asp2530=) c.7544A= (p.Asp2515=) n.445A= n.7796A= c.7697A= (p.Asp2566=) c.6602A= (p.Asp2201=) c.2786A= (p.Asp929=) c.2339A= (p.Asp780=) c.1676A= (p.Asp559=) c.6191A= (p.Asp2064=) n.7714A= | |
| 5 | g.13810080C>A | CA359231422 | DNAH5 | c.7588G>T (p.Asp2530Tyr) c.7543G>T (p.Asp2515Tyr) n.444G>T n.7795G>T c.7696G>T (p.Asp2566Tyr) c.6601G>T (p.Asp2201Tyr) c.2785G>T (p.Asp929Tyr) c.2338G>T (p.Asp780Tyr) c.1675G>T (p.Asp559Tyr) c.6190G>T (p.Asp2064Tyr) n.7713G>T | gnomAD v4 |
| 5 | g.13810080C= | CA1528448822 | DNAH5 | c.7588G= (p.Asp2530=) c.7543G= (p.Asp2515=) n.444G= n.7795G= c.7696G= (p.Asp2566=) c.6601G= (p.Asp2201=) c.2785G= (p.Asp929=) c.2338G= (p.Asp780=) c.1675G= (p.Asp559=) c.6190G= (p.Asp2064=) n.7713G= | |
| 5 | g.13810080C>G | CA359231424 | DNAH5 | c.7588G>C (p.Asp2530His) c.7543G>C (p.Asp2515His) n.444G>C n.7795G>C c.7696G>C (p.Asp2566His) c.6601G>C (p.Asp2201His) c.2785G>C (p.Asp929His) c.2338G>C (p.Asp780His) c.1675G>C (p.Asp559His) c.6190G>C (p.Asp2064His) n.7713G>C | |
| 5 | g.13810080C>T | CA359231427 | DNAH5 | c.7588G>A (p.Asp2530Asn) c.7543G>A (p.Asp2515Asn) n.444G>A n.7795G>A c.7696G>A (p.Asp2566Asn) c.6601G>A (p.Asp2201Asn) c.2785G>A (p.Asp929Asn) c.2338G>A (p.Asp780Asn) c.1675G>A (p.Asp559Asn) c.6190G>A (p.Asp2064Asn) n.7713G>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13810081G>A | CA443272557 | DNAH5 | c.7587C>T (p.Phe2529=) c.7542C>T (p.Phe2514=) n.443C>T n.7794C>T c.7695C>T (p.Phe2565=) c.6600C>T (p.Phe2200=) c.2784C>T (p.Phe928=) c.2337C>T (p.Phe779=) c.1674C>T (p.Phe558=) c.6189C>T (p.Phe2063=) n.7712C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13810081G>C | CA359231430 | DNAH5 | c.7587C>G (p.Phe2529Leu) c.7542C>G (p.Phe2514Leu) n.443C>G n.7794C>G c.7695C>G (p.Phe2565Leu) c.6600C>G (p.Phe2200Leu) c.2784C>G (p.Phe928Leu) c.2337C>G (p.Phe779Leu) c.1674C>G (p.Phe558Leu) c.6189C>G (p.Phe2063Leu) n.7712C>G | |
| 5 | g.13810081G= | CA1528448824 | DNAH5 | c.7587C= (p.Phe2529=) c.7542C= (p.Phe2514=) n.443C= n.7794C= c.7695C= (p.Phe2565=) c.6600C= (p.Phe2200=) c.2784C= (p.Phe928=) c.2337C= (p.Phe779=) c.1674C= (p.Phe558=) c.6189C= (p.Phe2063=) n.7712C= | |
| 5 | g.13810081G>T | CA359231438 | DNAH5 | c.7587C>A (p.Phe2529Leu) c.7542C>A (p.Phe2514Leu) n.443C>A n.7794C>A c.7695C>A (p.Phe2565Leu) c.6600C>A (p.Phe2200Leu) c.2784C>A (p.Phe928Leu) c.2337C>A (p.Phe779Leu) c.1674C>A (p.Phe558Leu) c.6189C>A (p.Phe2063Leu) n.7712C>A | gnomAD v4 |
| 5 | g.13810082A>C | CA359231455 | DNAH5 | c.7586T>G (p.Phe2529Cys) c.7541T>G (p.Phe2514Cys) n.442T>G n.7793T>G c.7694T>G (p.Phe2565Cys) c.6599T>G (p.Phe2200Cys) c.2783T>G (p.Phe928Cys) c.2336T>G (p.Phe779Cys) c.1673T>G (p.Phe558Cys) c.6188T>G (p.Phe2063Cys) n.7711T>G | |
| 5 | g.13810082A>G | CA359231449 | DNAH5 | c.7586T>C (p.Phe2529Ser) c.7541T>C (p.Phe2514Ser) n.442T>C n.7793T>C c.7694T>C (p.Phe2565Ser) c.6599T>C (p.Phe2200Ser) c.2783T>C (p.Phe928Ser) c.2336T>C (p.Phe779Ser) c.1673T>C (p.Phe558Ser) c.6188T>C (p.Phe2063Ser) n.7711T>C | |
| 5 | g.13810082A>T | CA359231452 | DNAH5 | c.7586T>A (p.Phe2529Tyr) c.7541T>A (p.Phe2514Tyr) n.442T>A n.7793T>A c.7694T>A (p.Phe2565Tyr) c.6599T>A (p.Phe2200Tyr) c.2783T>A (p.Phe928Tyr) c.2336T>A (p.Phe779Tyr) c.1673T>A (p.Phe558Tyr) c.6188T>A (p.Phe2063Tyr) n.7711T>A | gnomAD v4 |
| 5 | g.13810083del | CA2673271822 | DNAH5 | c.7586del (p.Phe2529SerfsTer?) c.7541del (p.Phe2514SerfsTer?) n.442del n.7793del c.7694del (p.Phe2565SerfsTer?) c.6599del (p.Phe2200SerfsTer?) c.2783del (p.Phe928SerfsTer?) c.2336del (p.Phe779SerfsTer?) c.1673del (p.Phe558SerfsTer?) c.6188del (p.Phe2063SerfsTer?) n.7711del | gnomAD v4 |
| 5 | g.13810083A= | CA1528448827 | DNAH5 | c.7585T= (p.Phe2529=) c.7540T= (p.Phe2514=) n.441T= n.7792T= c.7693T= (p.Phe2565=) c.6598T= (p.Phe2200=) c.2782T= (p.Phe928=) c.2335T= (p.Phe779=) c.1672T= (p.Phe558=) c.6187T= (p.Phe2063=) n.7710T= | |
| 5 | g.13810083A>C | CA359231459 | DNAH5 | c.7585T>G (p.Phe2529Val) c.7540T>G (p.Phe2514Val) n.441T>G n.7792T>G c.7693T>G (p.Phe2565Val) c.6598T>G (p.Phe2200Val) c.2782T>G (p.Phe928Val) c.2335T>G (p.Phe779Val) c.1672T>G (p.Phe558Val) c.6187T>G (p.Phe2063Val) n.7710T>G | dbSNP |
| 5 | g.13810083A>G | CA359231460 | DNAH5 | c.7585T>C (p.Phe2529Leu) c.7540T>C (p.Phe2514Leu) n.441T>C n.7792T>C c.7693T>C (p.Phe2565Leu) c.6598T>C (p.Phe2200Leu) c.2782T>C (p.Phe928Leu) c.2335T>C (p.Phe779Leu) c.1672T>C (p.Phe558Leu) c.6187T>C (p.Phe2063Leu) n.7710T>C | |
| 5 | g.13810083A>T | CA359231461 | DNAH5 | c.7585T>A (p.Phe2529Ile) c.7540T>A (p.Phe2514Ile) n.441T>A n.7792T>A c.7693T>A (p.Phe2565Ile) c.6598T>A (p.Phe2200Ile) c.2782T>A (p.Phe928Ile) c.2335T>A (p.Phe779Ile) c.1672T>A (p.Phe558Ile) c.6187T>A (p.Phe2063Ile) n.7710T>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13810083_13810089delinsAGGCGGT | CA1528448826 | DNAH5 | c.7579_7585delinsACCGCCT (p.Thr2527=) c.7534_7540delinsACCGCCT (p.Thr2512=) n.435_441delinsACCGCCT n.7786_7792delinsACCGCCT c.7687_7693delinsACCGCCT (p.Thr2563=) c.6592_6598delinsACCGCCT (p.Thr2198=) c.2776_2782delinsACCGCCT (p.Thr926=) c.2329_2335delinsACCGCCT (p.Thr777=) c.1666_1672delinsACCGCCT (p.Thr556=) c.6181_6187delinsACCGCCT (p.Thr2061=) n.7704_7710delinsACCGCCT | |
| 5 | g.13810084G>A | CA443272558 | DNAH5 | c.7584C>T (p.Ala2528=) c.7539C>T (p.Ala2513=) n.440C>T n.7791C>T c.7692C>T (p.Ala2564=) c.6597C>T (p.Ala2199=) c.2781C>T (p.Ala927=) c.2334C>T (p.Ala778=) c.1671C>T (p.Ala557=) c.6186C>T (p.Ala2062=) n.7709C>T | gnomAD v4 |
| 5 | g.13810084G>C | CA443272559 | DNAH5 | c.7584C>G (p.Ala2528=) c.7539C>G (p.Ala2513=) n.440C>G n.7791C>G c.7692C>G (p.Ala2564=) c.6597C>G (p.Ala2199=) c.2781C>G (p.Ala927=) c.2334C>G (p.Ala778=) c.1671C>G (p.Ala557=) c.6186C>G (p.Ala2062=) n.7709C>G | |
| 5 | g.13810084G>T | CA443272560 | DNAH5 | c.7584C>A (p.Ala2528=) c.7539C>A (p.Ala2513=) n.440C>A n.7791C>A c.7692C>A (p.Ala2564=) c.6597C>A (p.Ala2199=) c.2781C>A (p.Ala927=) c.2334C>A (p.Ala778=) c.1671C>A (p.Ala557=) c.6186C>A (p.Ala2062=) n.7709C>A | gnomAD v4 |
| 5 | g.13810085_13810090del | CA557873966 | DNAH5 | c.7579_7584del (p.Thr2527_Ala2528del) c.7534_7539del (p.Thr2512_Ala2513del) n.435_440del n.7786_7791del c.7687_7692del (p.Thr2563_Ala2564del) c.6592_6597del (p.Thr2198_Ala2199del) c.2776_2781del (p.Thr926_Ala927del) c.2329_2334del (p.Thr777_Ala778del) c.1666_1671del (p.Thr556_Ala557del) c.6181_6186del (p.Thr2061_Ala2062del) n.7704_7709del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13810085G>A | CA359231462 | DNAH5 | c.7583C>T (p.Ala2528Val) c.7538C>T (p.Ala2513Val) n.439C>T n.7790C>T c.7691C>T (p.Ala2564Val) c.6596C>T (p.Ala2199Val) c.2780C>T (p.Ala927Val) c.2333C>T (p.Ala778Val) c.1670C>T (p.Ala557Val) c.6185C>T (p.Ala2062Val) n.7708C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13810085G>C | CA359231466 | DNAH5 | c.7583C>G (p.Ala2528Gly) c.7538C>G (p.Ala2513Gly) n.439C>G n.7790C>G c.7691C>G (p.Ala2564Gly) c.6596C>G (p.Ala2199Gly) c.2780C>G (p.Ala927Gly) c.2333C>G (p.Ala778Gly) c.1670C>G (p.Ala557Gly) c.6185C>G (p.Ala2062Gly) n.7708C>G | |
| 5 | g.13810085G= | CA1528448830 | DNAH5 | c.7583C= (p.Ala2528=) c.7538C= (p.Ala2513=) n.439C= n.7790C= c.7691C= (p.Ala2564=) c.6596C= (p.Ala2199=) c.2780C= (p.Ala927=) c.2333C= (p.Ala778=) c.1670C= (p.Ala557=) c.6185C= (p.Ala2062=) n.7708C= | |
| 5 | g.13810085G>T | CA359231470 | DNAH5 | c.7583C>A (p.Ala2528Asp) c.7538C>A (p.Ala2513Asp) n.439C>A n.7790C>A c.7691C>A (p.Ala2564Asp) c.6596C>A (p.Ala2199Asp) c.2780C>A (p.Ala927Asp) c.2333C>A (p.Ala778Asp) c.1670C>A (p.Ala557Asp) c.6185C>A (p.Ala2062Asp) n.7708C>A | dbSNP gnomAD v4 |
| 5 | g.13810086C>A | CA359231471 | DNAH5 | c.7582G>T (p.Ala2528Ser) c.7537G>T (p.Ala2513Ser) n.438G>T n.7789G>T c.7690G>T (p.Ala2564Ser) c.6595G>T (p.Ala2199Ser) c.2779G>T (p.Ala927Ser) c.2332G>T (p.Ala778Ser) c.1669G>T (p.Ala557Ser) c.6184G>T (p.Ala2062Ser) n.7707G>T | gnomAD v4 |
| 5 | g.13810086C= | CA1528448832 | DNAH5 | c.7582G= (p.Ala2528=) c.7537G= (p.Ala2513=) n.438G= n.7789G= c.7690G= (p.Ala2564=) c.6595G= (p.Ala2199=) c.2779G= (p.Ala927=) c.2332G= (p.Ala778=) c.1669G= (p.Ala557=) c.6184G= (p.Ala2062=) n.7707G= | |
| 5 | g.13810086C>G | CA359231472 | DNAH5 | c.7582G>C (p.Ala2528Pro) c.7537G>C (p.Ala2513Pro) n.438G>C n.7789G>C c.7690G>C (p.Ala2564Pro) c.6595G>C (p.Ala2199Pro) c.2779G>C (p.Ala927Pro) c.2332G>C (p.Ala778Pro) c.1669G>C (p.Ala557Pro) c.6184G>C (p.Ala2062Pro) n.7707G>C | gnomAD v4 |
| 5 | g.13810086C>T | CA359231473 | DNAH5 | c.7582G>A (p.Ala2528Thr) c.7537G>A (p.Ala2513Thr) n.438G>A n.7789G>A c.7690G>A (p.Ala2564Thr) c.6595G>A (p.Ala2199Thr) c.2779G>A (p.Ala927Thr) c.2332G>A (p.Ala778Thr) c.1669G>A (p.Ala557Thr) c.6184G>A (p.Ala2062Thr) n.7707G>A | dbSNP gnomAD v4 |
| 5 | g.13810087G>A | CA113979056 | DNAH5 | c.7581C>T (p.Thr2527=) c.7536C>T (p.Thr2512=) n.437C>T n.7788C>T c.7689C>T (p.Thr2563=) c.6594C>T (p.Thr2198=) c.2778C>T (p.Thr926=) c.2331C>T (p.Thr777=) c.1668C>T (p.Thr556=) c.6183C>T (p.Thr2061=) n.7706C>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.13810087G>C | CA443272561 | DNAH5 | c.7581C>G (p.Thr2527=) c.7536C>G (p.Thr2512=) n.437C>G n.7788C>G c.7689C>G (p.Thr2563=) c.6594C>G (p.Thr2198=) c.2778C>G (p.Thr926=) c.2331C>G (p.Thr777=) c.1668C>G (p.Thr556=) c.6183C>G (p.Thr2061=) n.7706C>G | ClinVar dbSNP |
| 5 | g.13810087G= | CA1528448834 | DNAH5 | c.7581C= (p.Thr2527=) c.7536C= (p.Thr2512=) n.437C= n.7788C= c.7689C= (p.Thr2563=) c.6594C= (p.Thr2198=) c.2778C= (p.Thr926=) c.2331C= (p.Thr777=) c.1668C= (p.Thr556=) c.6183C= (p.Thr2061=) n.7706C= | |
| 5 | g.13810087G>T | CA443272562 | DNAH5 | c.7581C>A (p.Thr2527=) c.7536C>A (p.Thr2512=) n.437C>A n.7788C>A c.7689C>A (p.Thr2563=) c.6594C>A (p.Thr2198=) c.2778C>A (p.Thr926=) c.2331C>A (p.Thr777=) c.1668C>A (p.Thr556=) c.6183C>A (p.Thr2061=) n.7706C>A | gnomAD v4 |
| 5 | g.13810088G>A | CA359231475 | DNAH5 | c.7580C>T (p.Thr2527Ile) c.7535C>T (p.Thr2512Ile) n.436C>T n.7787C>T c.7688C>T (p.Thr2563Ile) c.6593C>T (p.Thr2198Ile) c.2777C>T (p.Thr926Ile) c.2330C>T (p.Thr777Ile) c.1667C>T (p.Thr556Ile) c.6182C>T (p.Thr2061Ile) n.7705C>T | dbSNP gnomAD v4 |
| 5 | g.13810088G>C | CA359231476 | DNAH5 | c.7580C>G (p.Thr2527Ser) c.7535C>G (p.Thr2512Ser) n.436C>G n.7787C>G c.7688C>G (p.Thr2563Ser) c.6593C>G (p.Thr2198Ser) c.2777C>G (p.Thr926Ser) c.2330C>G (p.Thr777Ser) c.1667C>G (p.Thr556Ser) c.6182C>G (p.Thr2061Ser) n.7705C>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13810088G= | CA1528448838 | DNAH5 | c.7580C= (p.Thr2527=) c.7535C= (p.Thr2512=) n.436C= n.7787C= c.7688C= (p.Thr2563=) c.6593C= (p.Thr2198=) c.2777C= (p.Thr926=) c.2330C= (p.Thr777=) c.1667C= (p.Thr556=) c.6182C= (p.Thr2061=) n.7705C= | |
| 5 | g.13810088G>T | CA359231477 | DNAH5 | c.7580C>A (p.Thr2527Asn) c.7535C>A (p.Thr2512Asn) n.436C>A n.7787C>A c.7688C>A (p.Thr2563Asn) c.6593C>A (p.Thr2198Asn) c.2777C>A (p.Thr926Asn) c.2330C>A (p.Thr777Asn) c.1667C>A (p.Thr556Asn) c.6182C>A (p.Thr2061Asn) n.7705C>A | gnomAD v4 |
| 5 | g.13810089T>A | CA359231483 | DNAH5 | c.7579A>T (p.Thr2527Ser) c.7534A>T (p.Thr2512Ser) n.435A>T n.7786A>T c.7687A>T (p.Thr2563Ser) c.6592A>T (p.Thr2198Ser) c.2776A>T (p.Thr926Ser) c.2329A>T (p.Thr777Ser) c.1666A>T (p.Thr556Ser) c.6181A>T (p.Thr2061Ser) n.7704A>T | gnomAD v4 |
| 5 | g.13810089T>C | CA359231482 | DNAH5 | c.7579A>G (p.Thr2527Ala) c.7534A>G (p.Thr2512Ala) n.435A>G n.7786A>G c.7687A>G (p.Thr2563Ala) c.6592A>G (p.Thr2198Ala) c.2776A>G (p.Thr926Ala) c.2329A>G (p.Thr777Ala) c.1666A>G (p.Thr556Ala) c.6181A>G (p.Thr2061Ala) n.7704A>G | gnomAD v4 |
| 5 | g.13810089T>G | CA359231478 | DNAH5 | c.7579A>C (p.Thr2527Pro) c.7534A>C (p.Thr2512Pro) n.435A>C n.7786A>C c.7687A>C (p.Thr2563Pro) c.6592A>C (p.Thr2198Pro) c.2776A>C (p.Thr926Pro) c.2329A>C (p.Thr777Pro) c.1666A>C (p.Thr556Pro) c.6181A>C (p.Thr2061Pro) n.7704A>C | |
| 5 | g.13810090G>A | CA443272563 | DNAH5 | c.7578C>T (p.Asp2526=) c.7533C>T (p.Asp2511=) n.434C>T n.7785C>T c.7686C>T (p.Asp2562=) c.6591C>T (p.Asp2197=) c.2775C>T (p.Asp925=) c.2328C>T (p.Asp776=) c.1665C>T (p.Asp555=) c.6180C>T (p.Asp2060=) n.7703C>T | gnomAD v4 |
| 5 | g.13810090G>C | CA359231485 | DNAH5 | c.7578C>G (p.Asp2526Glu) c.7533C>G (p.Asp2511Glu) n.434C>G n.7785C>G c.7686C>G (p.Asp2562Glu) c.6591C>G (p.Asp2197Glu) c.2775C>G (p.Asp925Glu) c.2328C>G (p.Asp776Glu) c.1665C>G (p.Asp555Glu) c.6180C>G (p.Asp2060Glu) n.7703C>G | |
| 5 | g.13810090G>T | CA359231490 | DNAH5 | c.7578C>A (p.Asp2526Glu) c.7533C>A (p.Asp2511Glu) n.434C>A n.7785C>A c.7686C>A (p.Asp2562Glu) c.6591C>A (p.Asp2197Glu) c.2775C>A (p.Asp925Glu) c.2328C>A (p.Asp776Glu) c.1665C>A (p.Asp555Glu) c.6180C>A (p.Asp2060Glu) n.7703C>A | gnomAD v4 |
| 5 | g.13810090_13810114dup | CA2573138457 | DNAH5 | c.7554_7578dup (p.Thr2527AlafsTer36) c.7509_7533dup (p.Thr2512AlafsTer36) n.410_434dup n.7761_7785dup c.7662_7686dup (p.Thr2563AlafsTer36) c.6567_6591dup (p.Thr2198AlafsTer36) c.2751_2775dup (p.Thr926AlafsTer36) c.2304_2328dup (p.Thr777AlafsTer36) c.1641_1665dup (p.Thr556AlafsTer36) c.6156_6180dup (p.Thr2061AlafsTer36) n.7679_7703dup | ClinVar dbSNP |
| 5 | g.13810091T>A | CA359231495 | DNAH5 | c.7577A>T (p.Asp2526Val) c.7532A>T (p.Asp2511Val) n.433A>T n.7784A>T c.7685A>T (p.Asp2562Val) c.6590A>T (p.Asp2197Val) c.2774A>T (p.Asp925Val) c.2327A>T (p.Asp776Val) c.1664A>T (p.Asp555Val) c.6179A>T (p.Asp2060Val) n.7702A>T | |
| 5 | g.13810091T>C | CA359231507 | DNAH5 | c.7577A>G (p.Asp2526Gly) c.7532A>G (p.Asp2511Gly) n.433A>G n.7784A>G c.7685A>G (p.Asp2562Gly) c.6590A>G (p.Asp2197Gly) c.2774A>G (p.Asp925Gly) c.2327A>G (p.Asp776Gly) c.1664A>G (p.Asp555Gly) c.6179A>G (p.Asp2060Gly) n.7702A>G | gnomAD v4 |
| 5 | g.13810091T>G | CA359231504 | DNAH5 | c.7577A>C (p.Asp2526Ala) c.7532A>C (p.Asp2511Ala) n.433A>C n.7784A>C c.7685A>C (p.Asp2562Ala) c.6590A>C (p.Asp2197Ala) c.2774A>C (p.Asp925Ala) c.2327A>C (p.Asp776Ala) c.1664A>C (p.Asp555Ala) c.6179A>C (p.Asp2060Ala) n.7702A>C | |
| 5 | g.13810091_13810092delinsTC | CA1528448839 | DNAH5 | c.7576_7577delinsGA (p.Asp2526=) c.7531_7532delinsGA (p.Asp2511=) n.432_433delinsGA n.7783_7784delinsGA c.7684_7685delinsGA (p.Asp2562=) c.6589_6590delinsGA (p.Asp2197=) c.2773_2774delinsGA (p.Asp925=) c.2326_2327delinsGA (p.Asp776=) c.1663_1664delinsGA (p.Asp555=) c.6178_6179delinsGA (p.Asp2060=) n.7701_7702delinsGA | |
| 5 | g.13810092C>A | CA359231512 | DNAH5 | c.7576G>T (p.Asp2526Tyr) c.7531G>T (p.Asp2511Tyr) n.432G>T n.7783G>T c.7684G>T (p.Asp2562Tyr) c.6589G>T (p.Asp2197Tyr) c.2773G>T (p.Asp925Tyr) c.2326G>T (p.Asp776Tyr) c.1663G>T (p.Asp555Tyr) c.6178G>T (p.Asp2060Tyr) n.7701G>T | gnomAD v4 |
| 5 | g.13810092C= | CA1528448841 | DNAH5 | c.7576G= (p.Asp2526=) c.7531G= (p.Asp2511=) n.432G= n.7783G= c.7684G= (p.Asp2562=) c.6589G= (p.Asp2197=) c.2773G= (p.Asp925=) c.2326G= (p.Asp776=) c.1663G= (p.Asp555=) c.6178G= (p.Asp2060=) n.7701G= | |
| 5 | g.13810092C>G | CA359231523 | DNAH5 | c.7576G>C (p.Asp2526His) c.7531G>C (p.Asp2511His) n.432G>C n.7783G>C c.7684G>C (p.Asp2562His) c.6589G>C (p.Asp2197His) c.2773G>C (p.Asp925His) c.2326G>C (p.Asp776His) c.1663G>C (p.Asp555His) c.6178G>C (p.Asp2060His) n.7701G>C | gnomAD v4 |
| 5 | g.13810092C>T | CA3203070 | DNAH5 | c.7576G>A (p.Asp2526Asn) c.7531G>A (p.Asp2511Asn) n.432G>A n.7783G>A c.7684G>A (p.Asp2562Asn) c.6589G>A (p.Asp2197Asn) c.2773G>A (p.Asp925Asn) c.2326G>A (p.Asp776Asn) c.1663G>A (p.Asp555Asn) c.6178G>A (p.Asp2060Asn) n.7701G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.13810095dup | CA2695204391 | DNAH5 | c.7576dup (p.Asp2526GlyfsTer29) c.7531dup (p.Asp2511GlyfsTer29) n.432dup n.7783dup c.7684dup (p.Asp2562GlyfsTer29) c.6589dup (p.Asp2197GlyfsTer29) c.2773dup (p.Asp925GlyfsTer29) c.2326dup (p.Asp776GlyfsTer29) c.1663dup (p.Asp555GlyfsTer29) c.6178dup (p.Asp2060GlyfsTer29) n.7701dup | |
| 5 | g.13810095del | CA557873967 | DNAH5 | c.7576del (p.Asp2526ThrfsTer?) c.7531del (p.Asp2511ThrfsTer?) n.432del n.7783del c.7684del (p.Asp2562ThrfsTer?) c.6589del (p.Asp2197ThrfsTer?) c.2773del (p.Asp925ThrfsTer?) c.2326del (p.Asp776ThrfsTer?) c.1663del (p.Asp555ThrfsTer?) c.6178del (p.Asp2060ThrfsTer?) n.7701del | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.13810093C>A | CA443272564 | DNAH5 | c.7575G>T (p.Gly2525=) c.7530G>T (p.Gly2510=) n.431G>T n.7782G>T c.7683G>T (p.Gly2561=) c.6588G>T (p.Gly2196=) c.2772G>T (p.Gly924=) c.2325G>T (p.Gly775=) c.1662G>T (p.Gly554=) c.6177G>T (p.Gly2059=) n.7700G>T | gnomAD v4 |
| 5 | g.13810093C= | CA1528448842 | DNAH5 | c.7575G= (p.Gly2525=) c.7530G= (p.Gly2510=) n.431G= n.7782G= c.7683G= (p.Gly2561=) c.6588G= (p.Gly2196=) c.2772G= (p.Gly924=) c.2325G= (p.Gly775=) c.1662G= (p.Gly554=) c.6177G= (p.Gly2059=) n.7700G= | |
| 5 | g.13810093C>G | CA113979068 | DNAH5 | c.7575G>C (p.Gly2525=) c.7530G>C (p.Gly2510=) n.431G>C n.7782G>C c.7683G>C (p.Gly2561=) c.6588G>C (p.Gly2196=) c.2772G>C (p.Gly924=) c.2325G>C (p.Gly775=) c.1662G>C (p.Gly554=) c.6177G>C (p.Gly2059=) n.7700G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13810093C>T | CA443272565 | DNAH5 | c.7575G>A (p.Gly2525=) c.7530G>A (p.Gly2510=) n.431G>A n.7782G>A c.7683G>A (p.Gly2561=) c.6588G>A (p.Gly2196=) c.2772G>A (p.Gly924=) c.2325G>A (p.Gly775=) c.1662G>A (p.Gly554=) c.6177G>A (p.Gly2059=) n.7700G>A | gnomAD v4 |
| 5 | g.13810094C>A | CA359231540 | DNAH5 | c.7574G>T (p.Gly2525Val) c.7529G>T (p.Gly2510Val) n.430G>T n.7781G>T c.7682G>T (p.Gly2561Val) c.6587G>T (p.Gly2196Val) c.2771G>T (p.Gly924Val) c.2324G>T (p.Gly775Val) c.1661G>T (p.Gly554Val) c.6176G>T (p.Gly2059Val) n.7699G>T | gnomAD v4 |
| 5 | g.13810094C= | CA1528448843 | DNAH5 | c.7574G= (p.Gly2525=) c.7529G= (p.Gly2510=) n.430G= n.7781G= c.7682G= (p.Gly2561=) c.6587G= (p.Gly2196=) c.2771G= (p.Gly924=) c.2324G= (p.Gly775=) c.1661G= (p.Gly554=) c.6176G= (p.Gly2059=) n.7699G= | |
| 5 | g.13810094C>G | CA359231539 | DNAH5 | c.7574G>C (p.Gly2525Ala) c.7529G>C (p.Gly2510Ala) n.430G>C n.7781G>C c.7682G>C (p.Gly2561Ala) c.6587G>C (p.Gly2196Ala) c.2771G>C (p.Gly924Ala) c.2324G>C (p.Gly775Ala) c.1661G>C (p.Gly554Ala) c.6176G>C (p.Gly2059Ala) n.7699G>C | |
| 5 | g.13810094C>T | CA359231541 | DNAH5 | c.7574G>A (p.Gly2525Glu) c.7529G>A (p.Gly2510Glu) n.430G>A n.7781G>A c.7682G>A (p.Gly2561Glu) c.6587G>A (p.Gly2196Glu) c.2771G>A (p.Gly924Glu) c.2324G>A (p.Gly775Glu) c.1661G>A (p.Gly554Glu) c.6176G>A (p.Gly2059Glu) n.7699G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13810095C>A | CA359231543 | DNAH5 | c.7573G>T (p.Gly2525Trp) c.7528G>T (p.Gly2510Trp) n.429G>T n.7780G>T c.7681G>T (p.Gly2561Trp) c.6586G>T (p.Gly2196Trp) c.2770G>T (p.Gly924Trp) c.2323G>T (p.Gly775Trp) c.1660G>T (p.Gly554Trp) c.6175G>T (p.Gly2059Trp) n.7698G>T | gnomAD v4 |
| 5 | g.13810095C= | CA1528448845 | DNAH5 | c.7573G= (p.Gly2525=) c.7528G= (p.Gly2510=) n.429G= n.7780G= c.7681G= (p.Gly2561=) c.6586G= (p.Gly2196=) c.2770G= (p.Gly924=) c.2323G= (p.Gly775=) c.1660G= (p.Gly554=) c.6175G= (p.Gly2059=) n.7698G= | |
| 5 | g.13810095C>G | CA359231547 | DNAH5 | c.7573G>C (p.Gly2525Arg) c.7528G>C (p.Gly2510Arg) n.429G>C n.7780G>C c.7681G>C (p.Gly2561Arg) c.6586G>C (p.Gly2196Arg) c.2770G>C (p.Gly924Arg) c.2323G>C (p.Gly775Arg) c.1660G>C (p.Gly554Arg) c.6175G>C (p.Gly2059Arg) n.7698G>C | gnomAD v4 |
| 5 | g.13810095C>T | CA3203071 | DNAH5 | c.7573G>A (p.Gly2525Arg) c.7528G>A (p.Gly2510Arg) n.429G>A n.7780G>A c.7681G>A (p.Gly2561Arg) c.6586G>A (p.Gly2196Arg) c.2770G>A (p.Gly924Arg) c.2323G>A (p.Gly775Arg) c.1660G>A (p.Gly554Arg) c.6175G>A (p.Gly2059Arg) n.7698G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13810096G>A | CA113979097 | DNAH5 | c.7572C>T (p.Pro2524=) c.7527C>T (p.Pro2509=) n.428C>T n.7779C>T c.7680C>T (p.Pro2560=) c.6585C>T (p.Pro2195=) c.2769C>T (p.Pro923=) c.2322C>T (p.Pro774=) c.1659C>T (p.Pro553=) c.6174C>T (p.Pro2058=) n.7697C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.13810096G>C | CA443272566 | DNAH5 | c.7572C>G (p.Pro2524=) c.7527C>G (p.Pro2509=) n.428C>G n.7779C>G c.7680C>G (p.Pro2560=) c.6585C>G (p.Pro2195=) c.2769C>G (p.Pro923=) c.2322C>G (p.Pro774=) c.1659C>G (p.Pro553=) c.6174C>G (p.Pro2058=) n.7697C>G | dbSNP |
| 5 | g.13810096G= | CA1528448847 | DNAH5 | c.7572C= (p.Pro2524=) c.7527C= (p.Pro2509=) n.428C= n.7779C= c.7680C= (p.Pro2560=) c.6585C= (p.Pro2195=) c.2769C= (p.Pro923=) c.2322C= (p.Pro774=) c.1659C= (p.Pro553=) c.6174C= (p.Pro2058=) n.7697C= | |
| 5 | g.13810096G>T | CA443272567 | DNAH5 | c.7572C>A (p.Pro2524=) c.7527C>A (p.Pro2509=) n.428C>A n.7779C>A c.7680C>A (p.Pro2560=) c.6585C>A (p.Pro2195=) c.2769C>A (p.Pro923=) c.2322C>A (p.Pro774=) c.1659C>A (p.Pro553=) c.6174C>A (p.Pro2058=) n.7697C>A | gnomAD v4 |
| 5 | g.13810097G>A | CA113979098 | DNAH5 | c.7571C>T (p.Pro2524Leu) c.7526C>T (p.Pro2509Leu) n.427C>T n.7778C>T c.7679C>T (p.Pro2560Leu) c.6584C>T (p.Pro2195Leu) c.2768C>T (p.Pro923Leu) c.2321C>T (p.Pro774Leu) c.1658C>T (p.Pro553Leu) c.6173C>T (p.Pro2058Leu) n.7696C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13810097G>C | CA359231558 | DNAH5 | c.7571C>G (p.Pro2524Arg) c.7526C>G (p.Pro2509Arg) n.427C>G n.7778C>G c.7679C>G (p.Pro2560Arg) c.6584C>G (p.Pro2195Arg) c.2768C>G (p.Pro923Arg) c.2321C>G (p.Pro774Arg) c.1658C>G (p.Pro553Arg) c.6173C>G (p.Pro2058Arg) n.7696C>G | gnomAD v4 |
| 5 | g.13810097G= | CA1528448849 | DNAH5 | c.7571C= (p.Pro2524=) c.7526C= (p.Pro2509=) n.427C= n.7778C= c.7679C= (p.Pro2560=) c.6584C= (p.Pro2195=) c.2768C= (p.Pro923=) c.2321C= (p.Pro774=) c.1658C= (p.Pro553=) c.6173C= (p.Pro2058=) n.7696C= | |
| 5 | g.13810097G>T | CA359231560 | DNAH5 | c.7571C>A (p.Pro2524His) c.7526C>A (p.Pro2509His) n.427C>A n.7778C>A c.7679C>A (p.Pro2560His) c.6584C>A (p.Pro2195His) c.2768C>A (p.Pro923His) c.2321C>A (p.Pro774His) c.1658C>A (p.Pro553His) c.6173C>A (p.Pro2058His) n.7696C>A | gnomAD v4 |
| 5 | g.13810098G>A | CA359231575 | DNAH5 | c.7570C>T (p.Pro2524Ser) c.7525C>T (p.Pro2509Ser) n.426C>T n.7777C>T c.7678C>T (p.Pro2560Ser) c.6583C>T (p.Pro2195Ser) c.2767C>T (p.Pro923Ser) c.2320C>T (p.Pro774Ser) c.1657C>T (p.Pro553Ser) c.6172C>T (p.Pro2058Ser) n.7695C>T | gnomAD v4 |
| 5 | g.13810098G>C | CA359231579 | DNAH5 | c.7570C>G (p.Pro2524Ala) c.7525C>G (p.Pro2509Ala) n.426C>G n.7777C>G c.7678C>G (p.Pro2560Ala) c.6583C>G (p.Pro2195Ala) c.2767C>G (p.Pro923Ala) c.2320C>G (p.Pro774Ala) c.1657C>G (p.Pro553Ala) c.6172C>G (p.Pro2058Ala) n.7695C>G | |
| 5 | g.13810098G= | CA1528448851 | DNAH5 | c.7570C= (p.Pro2524=) c.7525C= (p.Pro2509=) n.426C= n.7777C= c.7678C= (p.Pro2560=) c.6583C= (p.Pro2195=) c.2767C= (p.Pro923=) c.2320C= (p.Pro774=) c.1657C= (p.Pro553=) c.6172C= (p.Pro2058=) n.7695C= | |
| 5 | g.13810098G>T | CA359231580 | DNAH5 | c.7570C>A (p.Pro2524Thr) c.7525C>A (p.Pro2509Thr) n.426C>A n.7777C>A c.7678C>A (p.Pro2560Thr) c.6583C>A (p.Pro2195Thr) c.2767C>A (p.Pro923Thr) c.2320C>A (p.Pro774Thr) c.1657C>A (p.Pro553Thr) c.6172C>A (p.Pro2058Thr) n.7695C>A | gnomAD v4 |
| 5 | g.13810098_13810099insT | CA1528448853 | DNAH5 | c.7569_7570insA (p.Pro2524ThrfsTer?) c.7524_7525insA (p.Pro2509ThrfsTer?) n.425_426insA n.7776_7777insA c.7677_7678insA (p.Pro2560ThrfsTer?) c.6582_6583insA (p.Pro2195ThrfsTer?) c.2766_2767insA (p.Pro923ThrfsTer?) c.2319_2320insA (p.Pro774ThrfsTer?) c.1656_1657insA (p.Pro553ThrfsTer?) c.6171_6172insA (p.Pro2058ThrfsTer?) n.7694_7695insA | dbSNP gnomAD v4 |
| 5 | g.13810099C>A | CA443272568 | DNAH5 | c.7569G>T (p.Gly2523=) c.7524G>T (p.Gly2508=) n.425G>T n.7776G>T c.7677G>T (p.Gly2559=) c.6582G>T (p.Gly2194=) c.2766G>T (p.Gly922=) c.2319G>T (p.Gly773=) c.1656G>T (p.Gly552=) c.6171G>T (p.Gly2057=) n.7694G>T | dbSNP gnomAD v4 |
| 5 | g.13810099C= | CA1528448854 | DNAH5 | c.7569G= (p.Gly2523=) c.7524G= (p.Gly2508=) n.425G= n.7776G= c.7677G= (p.Gly2559=) c.6582G= (p.Gly2194=) c.2766G= (p.Gly922=) c.2319G= (p.Gly773=) c.1656G= (p.Gly552=) c.6171G= (p.Gly2057=) n.7694G= | |
| 5 | g.13810099C>G | CA443272569 | DNAH5 | c.7569G>C (p.Gly2523=) c.7524G>C (p.Gly2508=) n.425G>C n.7776G>C c.7677G>C (p.Gly2559=) c.6582G>C (p.Gly2194=) c.2766G>C (p.Gly922=) c.2319G>C (p.Gly773=) c.1656G>C (p.Gly552=) c.6171G>C (p.Gly2057=) n.7694G>C | |
| 5 | g.13810099C>T | CA113979101 | DNAH5 | c.7569G>A (p.Gly2523=) c.7524G>A (p.Gly2508=) n.425G>A n.7776G>A c.7677G>A (p.Gly2559=) c.6582G>A (p.Gly2194=) c.2766G>A (p.Gly922=) c.2319G>A (p.Gly773=) c.1656G>A (p.Gly552=) c.6171G>A (p.Gly2057=) n.7694G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13810102del | CA2673271823 | DNAH5 | c.7569del (p.Asp2526ThrfsTer?) c.7524del (p.Asp2511ThrfsTer?) n.425del n.7776del c.7677del (p.Asp2562ThrfsTer?) c.6582del (p.Asp2197ThrfsTer?) c.2766del (p.Asp925ThrfsTer?) c.2319del (p.Asp776ThrfsTer?) c.1656del (p.Asp555ThrfsTer?) c.6171del (p.Asp2060ThrfsTer?) n.7694del | gnomAD v4 |
| 5 | g.13810100C>A | CA359231584 | DNAH5 | c.7568G>T (p.Gly2523Val) c.7523G>T (p.Gly2508Val) n.424G>T n.7775G>T c.7676G>T (p.Gly2559Val) c.6581G>T (p.Gly2194Val) c.2765G>T (p.Gly922Val) c.2318G>T (p.Gly773Val) c.1655G>T (p.Gly552Val) c.6170G>T (p.Gly2057Val) n.7693G>T | gnomAD v4 |
| 5 | g.13810100C= | CA1528448855 | DNAH5 | c.7568G= (p.Gly2523=) c.7523G= (p.Gly2508=) n.424G= n.7775G= c.7676G= (p.Gly2559=) c.6581G= (p.Gly2194=) c.2765G= (p.Gly922=) c.2318G= (p.Gly773=) c.1655G= (p.Gly552=) c.6170G= (p.Gly2057=) n.7693G= | |
| 5 | g.13810100C>G | CA359231588 | DNAH5 | c.7568G>C (p.Gly2523Ala) c.7523G>C (p.Gly2508Ala) n.424G>C n.7775G>C c.7676G>C (p.Gly2559Ala) c.6581G>C (p.Gly2194Ala) c.2765G>C (p.Gly922Ala) c.2318G>C (p.Gly773Ala) c.1655G>C (p.Gly552Ala) c.6170G>C (p.Gly2057Ala) n.7693G>C | |
| 5 | g.13810100C>T | CA359231600 | DNAH5 | c.7568G>A (p.Gly2523Glu) c.7523G>A (p.Gly2508Glu) n.424G>A n.7775G>A c.7676G>A (p.Gly2559Glu) c.6581G>A (p.Gly2194Glu) c.2765G>A (p.Gly922Glu) c.2318G>A (p.Gly773Glu) c.1655G>A (p.Gly552Glu) c.6170G>A (p.Gly2057Glu) n.7693G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13810101C>A | CA359231604 | DNAH5 | c.7567G>T (p.Gly2523Trp) c.7522G>T (p.Gly2508Trp) n.423G>T n.7774G>T c.7675G>T (p.Gly2559Trp) c.6580G>T (p.Gly2194Trp) c.2764G>T (p.Gly922Trp) c.2317G>T (p.Gly773Trp) c.1654G>T (p.Gly552Trp) c.6169G>T (p.Gly2057Trp) n.7692G>T | gnomAD v4 |
| 5 | g.13810101C= | CA1528448856 | DNAH5 | c.7567G= (p.Gly2523=) c.7522G= (p.Gly2508=) n.423G= n.7774G= c.7675G= (p.Gly2559=) c.6580G= (p.Gly2194=) c.2764G= (p.Gly922=) c.2317G= (p.Gly773=) c.1654G= (p.Gly552=) c.6169G= (p.Gly2057=) n.7692G= | |
| 5 | g.13810101C>G | CA113979114 | DNAH5 | c.7567G>C (p.Gly2523Arg) c.7522G>C (p.Gly2508Arg) n.423G>C n.7774G>C c.7675G>C (p.Gly2559Arg) c.6580G>C (p.Gly2194Arg) c.2764G>C (p.Gly922Arg) c.2317G>C (p.Gly773Arg) c.1654G>C (p.Gly552Arg) c.6169G>C (p.Gly2057Arg) n.7692G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13810101C>T | CA359231605 | DNAH5 | c.7567G>A (p.Gly2523Arg) c.7522G>A (p.Gly2508Arg) n.423G>A n.7774G>A c.7675G>A (p.Gly2559Arg) c.6580G>A (p.Gly2194Arg) c.2764G>A (p.Gly922Arg) c.2317G>A (p.Gly773Arg) c.1654G>A (p.Gly552Arg) c.6169G>A (p.Gly2057Arg) n.7692G>A | gnomAD v4 |
| 5 | g.13810102C>A | CA443272570 | DNAH5 | c.7566G>T (p.Ala2522=) c.7521G>T (p.Ala2507=) n.422G>T n.7773G>T c.7674G>T (p.Ala2558=) c.6579G>T (p.Ala2193=) c.2763G>T (p.Ala921=) c.2316G>T (p.Ala772=) c.1653G>T (p.Ala551=) c.6168G>T (p.Ala2056=) n.7691G>T | gnomAD v4 |
| 5 | g.13810102C= | CA1528448857 | DNAH5 | c.7566G= (p.Ala2522=) c.7521G= (p.Ala2507=) n.422G= n.7773G= c.7674G= (p.Ala2558=) c.6579G= (p.Ala2193=) c.2763G= (p.Ala921=) c.2316G= (p.Ala772=) c.1653G= (p.Ala551=) c.6168G= (p.Ala2056=) n.7691G= | |
| 5 | g.13810102C>G | CA443272571 | DNAH5 | c.7566G>C (p.Ala2522=) c.7521G>C (p.Ala2507=) n.422G>C n.7773G>C c.7674G>C (p.Ala2558=) c.6579G>C (p.Ala2193=) c.2763G>C (p.Ala921=) c.2316G>C (p.Ala772=) c.1653G>C (p.Ala551=) c.6168G>C (p.Ala2056=) n.7691G>C | ClinVar dbSNP |
| 5 | g.13810102C>T | CA3203072 | DNAH5 | c.7566G>A (p.Ala2522=) c.7521G>A (p.Ala2507=) n.422G>A n.7773G>A c.7674G>A (p.Ala2558=) c.6579G>A (p.Ala2193=) c.2763G>A (p.Ala921=) c.2316G>A (p.Ala772=) c.1653G>A (p.Ala551=) c.6168G>A (p.Ala2056=) n.7691G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13810103G>A | CA359231612 | DNAH5 | c.7565C>T (p.Ala2522Val) c.7520C>T (p.Ala2507Val) n.421C>T n.7772C>T c.7673C>T (p.Ala2558Val) c.6578C>T (p.Ala2193Val) c.2762C>T (p.Ala921Val) c.2315C>T (p.Ala772Val) c.1652C>T (p.Ala551Val) c.6167C>T (p.Ala2056Val) n.7690C>T | gnomAD v4 |
| 5 | g.13810103G>C | CA359231615 | DNAH5 | c.7565C>G (p.Ala2522Gly) c.7520C>G (p.Ala2507Gly) n.421C>G n.7772C>G c.7673C>G (p.Ala2558Gly) c.6578C>G (p.Ala2193Gly) c.2762C>G (p.Ala921Gly) c.2315C>G (p.Ala772Gly) c.1652C>G (p.Ala551Gly) c.6167C>G (p.Ala2056Gly) n.7690C>G | |
| 5 | g.13810103G= | CA1528448858 | DNAH5 | c.7565C= (p.Ala2522=) c.7520C= (p.Ala2507=) n.421C= n.7772C= c.7673C= (p.Ala2558=) c.6578C= (p.Ala2193=) c.2762C= (p.Ala921=) c.2315C= (p.Ala772=) c.1652C= (p.Ala551=) c.6167C= (p.Ala2056=) n.7690C= | |
| 5 | g.13810103G>T | CA113979117 | DNAH5 | c.7565C>A (p.Ala2522Glu) c.7520C>A (p.Ala2507Glu) n.421C>A n.7772C>A c.7673C>A (p.Ala2558Glu) c.6578C>A (p.Ala2193Glu) c.2762C>A (p.Ala921Glu) c.2315C>A (p.Ala772Glu) c.1652C>A (p.Ala551Glu) c.6167C>A (p.Ala2056Glu) n.7690C>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13810104C>A | CA359231616 | DNAH5 | c.7564G>T (p.Ala2522Ser) c.7519G>T (p.Ala2507Ser) n.420G>T n.7771G>T c.7672G>T (p.Ala2558Ser) c.6577G>T (p.Ala2193Ser) c.2761G>T (p.Ala921Ser) c.2314G>T (p.Ala772Ser) c.1651G>T (p.Ala551Ser) c.6166G>T (p.Ala2056Ser) n.7689G>T | dbSNP |
| 5 | g.13810104C= | CA1528448859 | DNAH5 | c.7564G= (p.Ala2522=) c.7519G= (p.Ala2507=) n.420G= n.7771G= c.7672G= (p.Ala2558=) c.6577G= (p.Ala2193=) c.2761G= (p.Ala921=) c.2314G= (p.Ala772=) c.1651G= (p.Ala551=) c.6166G= (p.Ala2056=) n.7689G= | |
| 5 | g.13810104C>G | CA359231617 | DNAH5 | c.7564G>C (p.Ala2522Pro) c.7519G>C (p.Ala2507Pro) n.420G>C n.7771G>C c.7672G>C (p.Ala2558Pro) c.6577G>C (p.Ala2193Pro) c.2761G>C (p.Ala921Pro) c.2314G>C (p.Ala772Pro) c.1651G>C (p.Ala551Pro) c.6166G>C (p.Ala2056Pro) n.7689G>C | |
| 5 | g.13810104C>T | CA359231634 | DNAH5 | c.7564G>A (p.Ala2522Thr) c.7519G>A (p.Ala2507Thr) n.420G>A n.7771G>A c.7672G>A (p.Ala2558Thr) c.6577G>A (p.Ala2193Thr) c.2761G>A (p.Ala921Thr) c.2314G>A (p.Ala772Thr) c.1651G>A (p.Ala551Thr) c.6166G>A (p.Ala2056Thr) n.7689G>A | gnomAD v4 |
| 5 | g.13810105T>A | CA443272572 | DNAH5 | c.7563A>T (p.Pro2521=) c.7518A>T (p.Pro2506=) n.419A>T n.7770A>T c.7671A>T (p.Pro2557=) c.6576A>T (p.Pro2192=) c.2760A>T (p.Pro920=) c.2313A>T (p.Pro771=) c.1650A>T (p.Pro550=) c.6165A>T (p.Pro2055=) n.7688A>T | gnomAD v4 |
| 5 | g.13810105T>C | CA443272573 | DNAH5 | c.7563A>G (p.Pro2521=) c.7518A>G (p.Pro2506=) n.419A>G n.7770A>G c.7671A>G (p.Pro2557=) c.6576A>G (p.Pro2192=) c.2760A>G (p.Pro920=) c.2313A>G (p.Pro771=) c.1650A>G (p.Pro550=) c.6165A>G (p.Pro2055=) n.7688A>G | ClinVar dbSNP gnomAD v4 |
| 5 | g.13810105T>G | CA443272574 | DNAH5 | c.7563A>C (p.Pro2521=) c.7518A>C (p.Pro2506=) n.419A>C n.7770A>C c.7671A>C (p.Pro2557=) c.6576A>C (p.Pro2192=) c.2760A>C (p.Pro920=) c.2313A>C (p.Pro771=) c.1650A>C (p.Pro550=) c.6165A>C (p.Pro2055=) n.7688A>C | |
| 5 | g.13810105T= | CA1528448860 | DNAH5 | c.7563A= (p.Pro2521=) c.7518A= (p.Pro2506=) n.419A= n.7770A= c.7671A= (p.Pro2557=) c.6576A= (p.Pro2192=) c.2760A= (p.Pro920=) c.2313A= (p.Pro771=) c.1650A= (p.Pro550=) c.6165A= (p.Pro2055=) n.7688A= | |
| 5 | g.13810106G>A | CA359231636 | DNAH5 | c.7562C>T (p.Pro2521Leu) c.7517C>T (p.Pro2506Leu) n.418C>T n.7769C>T c.7670C>T (p.Pro2557Leu) c.6575C>T (p.Pro2192Leu) c.2759C>T (p.Pro920Leu) c.2312C>T (p.Pro771Leu) c.1649C>T (p.Pro550Leu) c.6164C>T (p.Pro2055Leu) n.7687C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13810106G>C | CA359231640 | DNAH5 | c.7562C>G (p.Pro2521Arg) c.7517C>G (p.Pro2506Arg) n.418C>G n.7769C>G c.7670C>G (p.Pro2557Arg) c.6575C>G (p.Pro2192Arg) c.2759C>G (p.Pro920Arg) c.2312C>G (p.Pro771Arg) c.1649C>G (p.Pro550Arg) c.6164C>G (p.Pro2055Arg) n.7687C>G | |
| 5 | g.13810106G= | CA1528448861 | DNAH5 | c.7562C= (p.Pro2521=) c.7517C= (p.Pro2506=) n.418C= n.7769C= c.7670C= (p.Pro2557=) c.6575C= (p.Pro2192=) c.2759C= (p.Pro920=) c.2312C= (p.Pro771=) c.1649C= (p.Pro550=) c.6164C= (p.Pro2055=) n.7687C= | |
| 5 | g.13810106G>T | CA359231642 | DNAH5 | c.7562C>A (p.Pro2521Gln) c.7517C>A (p.Pro2506Gln) n.418C>A n.7769C>A c.7670C>A (p.Pro2557Gln) c.6575C>A (p.Pro2192Gln) c.2759C>A (p.Pro920Gln) c.2312C>A (p.Pro771Gln) c.1649C>A (p.Pro550Gln) c.6164C>A (p.Pro2055Gln) n.7687C>A | gnomAD v4 |
| 5 | g.13810112_13810114dup | CA557876640 | DNAH5 | c.7560_7562dup (p.Pro2521_Ala2522insPro) c.7515_7517dup (p.Pro2506_Ala2507insPro) n.416_418dup n.7767_7769dup c.7668_7670dup (p.Pro2557_Ala2558insPro) c.6573_6575dup (p.Pro2192_Ala2193insPro) c.2757_2759dup (p.Pro920_Ala921insPro) c.2310_2312dup (p.Pro771_Ala772insPro) c.1647_1649dup (p.Pro550_Ala551insPro) c.6162_6164dup (p.Pro2055_Ala2056insPro) n.7685_7687dup | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13810107G>A | CA359231644 | DNAH5 | c.7561C>T (p.Pro2521Ser) c.7516C>T (p.Pro2506Ser) n.417C>T n.7768C>T c.7669C>T (p.Pro2557Ser) c.6574C>T (p.Pro2192Ser) c.2758C>T (p.Pro920Ser) c.2311C>T (p.Pro771Ser) c.1648C>T (p.Pro550Ser) c.6163C>T (p.Pro2055Ser) n.7686C>T | gnomAD v4 COSMIC |
| 5 | g.13810107G>C | CA359231646 | DNAH5 | c.7561C>G (p.Pro2521Ala) c.7516C>G (p.Pro2506Ala) n.417C>G n.7768C>G c.7669C>G (p.Pro2557Ala) c.6574C>G (p.Pro2192Ala) c.2758C>G (p.Pro920Ala) c.2311C>G (p.Pro771Ala) c.1648C>G (p.Pro550Ala) c.6163C>G (p.Pro2055Ala) n.7686C>G | |
| 5 | g.13810107G>T | CA359231647 | DNAH5 | c.7561C>A (p.Pro2521Thr) c.7516C>A (p.Pro2506Thr) n.417C>A n.7768C>A c.7669C>A (p.Pro2557Thr) c.6574C>A (p.Pro2192Thr) c.2758C>A (p.Pro920Thr) c.2311C>A (p.Pro771Thr) c.1648C>A (p.Pro550Thr) c.6163C>A (p.Pro2055Thr) n.7686C>A | gnomAD v4 |
| 5 | g.13810108C>A | CA443272576 | DNAH5 | c.7560G>T (p.Pro2520=) c.7515G>T (p.Pro2505=) n.416G>T n.7767G>T c.7668G>T (p.Pro2556=) c.6573G>T (p.Pro2191=) c.2757G>T (p.Pro919=) c.2310G>T (p.Pro770=) c.1647G>T (p.Pro549=) c.6162G>T (p.Pro2054=) n.7685G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13810108C= | CA1528448862 | DNAH5 | c.7560G= (p.Pro2520=) c.7515G= (p.Pro2505=) n.416G= n.7767G= c.7668G= (p.Pro2556=) c.6573G= (p.Pro2191=) c.2757G= (p.Pro919=) c.2310G= (p.Pro770=) c.1647G= (p.Pro549=) c.6162G= (p.Pro2054=) n.7685G= | |
| 5 | g.13810108C>G | CA443272575 | DNAH5 | c.7560G>C (p.Pro2520=) c.7515G>C (p.Pro2505=) n.416G>C n.7767G>C c.7668G>C (p.Pro2556=) c.6573G>C (p.Pro2191=) c.2757G>C (p.Pro919=) c.2310G>C (p.Pro770=) c.1647G>C (p.Pro549=) c.6162G>C (p.Pro2054=) n.7685G>C | |
| 5 | g.13810108C>T | CA359231648 | DNAH5 | c.7560G>A (p.Pro2520=) c.7515G>A (p.Pro2505=) n.416G>A n.7767G>A c.7668G>A (p.Pro2556=) c.6573G>A (p.Pro2191=) c.2757G>A (p.Pro919=) c.2310G>A (p.Pro770=) c.1647G>A (p.Pro549=) c.6162G>A (p.Pro2054=) n.7685G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13810109G>A | CA359231650 | DNAH5 | c.7559C>T (p.Pro2520Leu) c.7514C>T (p.Pro2505Leu) n.415C>T n.7766C>T c.7667C>T (p.Pro2556Leu) c.6572C>T (p.Pro2191Leu) c.2756C>T (p.Pro919Leu) c.2309C>T (p.Pro770Leu) c.1646C>T (p.Pro549Leu) c.6161C>T (p.Pro2054Leu) n.7684C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13810109G>C | CA359231653 | DNAH5 | c.7559C>G (p.Pro2520Arg) c.7514C>G (p.Pro2505Arg) n.415C>G n.7766C>G c.7667C>G (p.Pro2556Arg) c.6572C>G (p.Pro2191Arg) c.2756C>G (p.Pro919Arg) c.2309C>G (p.Pro770Arg) c.1646C>G (p.Pro549Arg) c.6161C>G (p.Pro2054Arg) n.7684C>G | gnomAD v4 |
| 5 | g.13810109G= | CA1528448864 | DNAH5 | c.7559C= (p.Pro2520=) c.7514C= (p.Pro2505=) n.415C= n.7766C= c.7667C= (p.Pro2556=) c.6572C= (p.Pro2191=) c.2756C= (p.Pro919=) c.2309C= (p.Pro770=) c.1646C= (p.Pro549=) c.6161C= (p.Pro2054=) n.7684C= | |
| 5 | g.13810109G>T | CA359231649 | DNAH5 | c.7559C>A (p.Pro2520Gln) c.7514C>A (p.Pro2505Gln) n.415C>A n.7766C>A c.7667C>A (p.Pro2556Gln) c.6572C>A (p.Pro2191Gln) c.2756C>A (p.Pro919Gln) c.2309C>A (p.Pro770Gln) c.1646C>A (p.Pro549Gln) c.6161C>A (p.Pro2054Gln) n.7684C>A | gnomAD v4 |
| 5 | g.13810110G>A | CA359231657 | DNAH5 | c.7558C>T (p.Pro2520Ser) c.7513C>T (p.Pro2505Ser) n.414C>T n.7765C>T c.7666C>T (p.Pro2556Ser) c.6571C>T (p.Pro2191Ser) c.2755C>T (p.Pro919Ser) c.2308C>T (p.Pro770Ser) c.1645C>T (p.Pro549Ser) c.6160C>T (p.Pro2054Ser) n.7683C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13810110G>C | CA359231669 | DNAH5 | c.7558C>G (p.Pro2520Ala) c.7513C>G (p.Pro2505Ala) n.414C>G n.7765C>G c.7666C>G (p.Pro2556Ala) c.6571C>G (p.Pro2191Ala) c.2755C>G (p.Pro919Ala) c.2308C>G (p.Pro770Ala) c.1645C>G (p.Pro549Ala) c.6160C>G (p.Pro2054Ala) n.7683C>G | |
| 5 | g.13810110G= | CA1528448865 | DNAH5 | c.7558C= (p.Pro2520=) c.7513C= (p.Pro2505=) n.414C= n.7765C= c.7666C= (p.Pro2556=) c.6571C= (p.Pro2191=) c.2755C= (p.Pro919=) c.2308C= (p.Pro770=) c.1645C= (p.Pro549=) c.6160C= (p.Pro2054=) n.7683C= | |
| 5 | g.13810110G>T | CA359231680 | DNAH5 | c.7558C>A (p.Pro2520Thr) c.7513C>A (p.Pro2505Thr) n.414C>A n.7765C>A c.7666C>A (p.Pro2556Thr) c.6571C>A (p.Pro2191Thr) c.2755C>A (p.Pro919Thr) c.2308C>A (p.Pro770Thr) c.1645C>A (p.Pro549Thr) c.6160C>A (p.Pro2054Thr) n.7683C>A | gnomAD v4 |
| 5 | g.13810111C>A | CA443272579 | DNAH5 | c.7557G>T (p.Pro2519=) c.7512G>T (p.Pro2504=) n.413G>T n.7764G>T c.7665G>T (p.Pro2555=) c.6570G>T (p.Pro2190=) c.2754G>T (p.Pro918=) c.2307G>T (p.Pro769=) c.1644G>T (p.Pro548=) c.6159G>T (p.Pro2053=) n.7682G>T | gnomAD v4 |
| 5 | g.13810111C= | CA1528448867 | DNAH5 | c.7557G= (p.Pro2519=) c.7512G= (p.Pro2504=) n.413G= n.7764G= c.7665G= (p.Pro2555=) c.6570G= (p.Pro2190=) c.2754G= (p.Pro918=) c.2307G= (p.Pro769=) c.1644G= (p.Pro548=) c.6159G= (p.Pro2053=) n.7682G= | |
| 5 | g.13810111C>G | CA443272578 | DNAH5 | c.7557G>C (p.Pro2519=) c.7512G>C (p.Pro2504=) n.413G>C n.7764G>C c.7665G>C (p.Pro2555=) c.6570G>C (p.Pro2190=) c.2754G>C (p.Pro918=) c.2307G>C (p.Pro769=) c.1644G>C (p.Pro548=) c.6159G>C (p.Pro2053=) n.7682G>C | |
| 5 | g.13810111C>T | CA443272577 | DNAH5 | c.7557G>A (p.Pro2519=) c.7512G>A (p.Pro2504=) n.413G>A n.7764G>A c.7665G>A (p.Pro2555=) c.6570G>A (p.Pro2190=) c.2754G>A (p.Pro918=) c.2307G>A (p.Pro769=) c.1644G>A (p.Pro548=) c.6159G>A (p.Pro2053=) n.7682G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13810112G>A | CA3203073 | DNAH5 | c.7556C>T (p.Pro2519Leu) c.7511C>T (p.Pro2504Leu) n.412C>T n.7763C>T c.7664C>T (p.Pro2555Leu) c.6569C>T (p.Pro2190Leu) c.2753C>T (p.Pro918Leu) c.2306C>T (p.Pro769Leu) c.1643C>T (p.Pro548Leu) c.6158C>T (p.Pro2053Leu) n.7681C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13810112G>C | CA359231683 | DNAH5 | c.7556C>G (p.Pro2519Arg) c.7511C>G (p.Pro2504Arg) n.412C>G n.7763C>G c.7664C>G (p.Pro2555Arg) c.6569C>G (p.Pro2190Arg) c.2753C>G (p.Pro918Arg) c.2306C>G (p.Pro769Arg) c.1643C>G (p.Pro548Arg) c.6158C>G (p.Pro2053Arg) n.7681C>G | |
| 5 | g.13810112G= | CA1528448869 | DNAH5 | c.7556C= (p.Pro2519=) c.7511C= (p.Pro2504=) n.412C= n.7763C= c.7664C= (p.Pro2555=) c.6569C= (p.Pro2190=) c.2753C= (p.Pro918=) c.2306C= (p.Pro769=) c.1643C= (p.Pro548=) c.6158C= (p.Pro2053=) n.7681C= | |
| 5 | g.13810112G>T | CA359231684 | DNAH5 | c.7556C>A (p.Pro2519Gln) c.7511C>A (p.Pro2504Gln) n.412C>A n.7763C>A c.7664C>A (p.Pro2555Gln) c.6569C>A (p.Pro2190Gln) c.2753C>A (p.Pro918Gln) c.2306C>A (p.Pro769Gln) c.1643C>A (p.Pro548Gln) c.6158C>A (p.Pro2053Gln) n.7681C>A | gnomAD v4 |
| 5 | g.13810113G>A | CA359231687 | DNAH5 | c.7555C>T (p.Pro2519Ser) c.7510C>T (p.Pro2504Ser) n.411C>T n.7762C>T c.7663C>T (p.Pro2555Ser) c.6568C>T (p.Pro2190Ser) c.2752C>T (p.Pro918Ser) c.2305C>T (p.Pro769Ser) c.1642C>T (p.Pro548Ser) c.6157C>T (p.Pro2053Ser) n.7680C>T | dbSNP gnomAD v4 |
| 5 | g.13810113G>C | CA359231692 | DNAH5 | c.7555C>G (p.Pro2519Ala) c.7510C>G (p.Pro2504Ala) n.411C>G n.7762C>G c.7663C>G (p.Pro2555Ala) c.6568C>G (p.Pro2190Ala) c.2752C>G (p.Pro918Ala) c.2305C>G (p.Pro769Ala) c.1642C>G (p.Pro548Ala) c.6157C>G (p.Pro2053Ala) n.7680C>G | gnomAD v4 |
| 5 | g.13810113G= | CA1528448871 | DNAH5 | c.7555C= (p.Pro2519=) c.7510C= (p.Pro2504=) n.411C= n.7762C= c.7663C= (p.Pro2555=) c.6568C= (p.Pro2190=) c.2752C= (p.Pro918=) c.2305C= (p.Pro769=) c.1642C= (p.Pro548=) c.6157C= (p.Pro2053=) n.7680C= | |
| 5 | g.13810113G>T | CA359231695 | DNAH5 | c.7555C>A (p.Pro2519Thr) c.7510C>A (p.Pro2504Thr) n.411C>A n.7762C>A c.7663C>A (p.Pro2555Thr) c.6568C>A (p.Pro2190Thr) c.2752C>A (p.Pro918Thr) c.2305C>A (p.Pro769Thr) c.1642C>A (p.Pro548Thr) c.6157C>A (p.Pro2053Thr) n.7680C>A | gnomAD v4 COSMIC |
| 5 | g.13810115_13810117dup | CA1073395096 | DNAH5 | c.7553_7555dup (p.Leu2518_Pro2519insLeu) c.7508_7510dup (p.Leu2503_Pro2504insLeu) n.409_411dup n.7760_7762dup c.7661_7663dup (p.Leu2554_Pro2555insLeu) c.6566_6568dup (p.Leu2189_Pro2190insLeu) c.2750_2752dup (p.Leu917_Pro918insLeu) c.2303_2305dup (p.Leu768_Pro769insLeu) c.1640_1642dup (p.Leu547_Pro548insLeu) c.6155_6157dup (p.Leu2052_Pro2053insLeu) n.7678_7680dup | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13810114C>A | CA443272580 | DNAH5 | c.7554G>T (p.Leu2518=) c.7509G>T (p.Leu2503=) n.410G>T n.7761G>T c.7662G>T (p.Leu2554=) c.6567G>T (p.Leu2189=) c.2751G>T (p.Leu917=) c.2304G>T (p.Leu768=) c.1641G>T (p.Leu547=) c.6156G>T (p.Leu2052=) n.7679G>T | gnomAD v4 |
| 5 | g.13810114C= | CA1528448873 | DNAH5 | c.7554G= (p.Leu2518=) c.7509G= (p.Leu2503=) n.410G= n.7761G= c.7662G= (p.Leu2554=) c.6567G= (p.Leu2189=) c.2751G= (p.Leu917=) c.2304G= (p.Leu768=) c.1641G= (p.Leu547=) c.6156G= (p.Leu2052=) n.7679G= | |
| 5 | g.13810114C>G | CA443272581 | DNAH5 | c.7554G>C (p.Leu2518=) c.7509G>C (p.Leu2503=) n.410G>C n.7761G>C c.7662G>C (p.Leu2554=) c.6567G>C (p.Leu2189=) c.2751G>C (p.Leu917=) c.2304G>C (p.Leu768=) c.1641G>C (p.Leu547=) c.6156G>C (p.Leu2052=) n.7679G>C | |
| 5 | g.13810114C>T | CA3203074 | DNAH5 | c.7554G>A (p.Leu2518=) c.7509G>A (p.Leu2503=) n.410G>A n.7761G>A c.7662G>A (p.Leu2554=) c.6567G>A (p.Leu2189=) c.2751G>A (p.Leu917=) c.2304G>A (p.Leu768=) c.1641G>A (p.Leu547=) c.6156G>A (p.Leu2052=) n.7679G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13810115A>C | CA359231697 | DNAH5 | c.7553T>G (p.Leu2518Arg) c.7508T>G (p.Leu2503Arg) n.409T>G n.7760T>G c.7661T>G (p.Leu2554Arg) c.6566T>G (p.Leu2189Arg) c.2750T>G (p.Leu917Arg) c.2303T>G (p.Leu768Arg) c.1640T>G (p.Leu547Arg) c.6155T>G (p.Leu2052Arg) n.7678T>G | gnomAD v4 |
| 5 | g.13810115A>G | CA359231699 | DNAH5 | c.7553T>C (p.Leu2518Pro) c.7508T>C (p.Leu2503Pro) n.409T>C n.7760T>C c.7661T>C (p.Leu2554Pro) c.6566T>C (p.Leu2189Pro) c.2750T>C (p.Leu917Pro) c.2303T>C (p.Leu768Pro) c.1640T>C (p.Leu547Pro) c.6155T>C (p.Leu2052Pro) n.7678T>C | |
| 5 | g.13810115A>T | CA359231700 | DNAH5 | c.7553T>A (p.Leu2518Gln) c.7508T>A (p.Leu2503Gln) n.409T>A n.7760T>A c.7661T>A (p.Leu2554Gln) c.6566T>A (p.Leu2189Gln) c.2750T>A (p.Leu917Gln) c.2303T>A (p.Leu768Gln) c.1640T>A (p.Leu547Gln) c.6155T>A (p.Leu2052Gln) n.7678T>A | |
| 5 | g.13810116G>A | CA443272582 | DNAH5 | c.7552C>T (p.Leu2518=) c.7507C>T (p.Leu2503=) n.408C>T n.7759C>T c.7660C>T (p.Leu2554=) c.6565C>T (p.Leu2189=) c.2749C>T (p.Leu917=) c.2302C>T (p.Leu768=) c.1639C>T (p.Leu547=) c.6154C>T (p.Leu2052=) n.7677C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13810116G>C | CA359231706 | DNAH5 | c.7552C>G (p.Leu2518Val) c.7507C>G (p.Leu2503Val) n.408C>G n.7759C>G c.7660C>G (p.Leu2554Val) c.6565C>G (p.Leu2189Val) c.2749C>G (p.Leu917Val) c.2302C>G (p.Leu768Val) c.1639C>G (p.Leu547Val) c.6154C>G (p.Leu2052Val) n.7677C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13810116G= | CA1528448875 | DNAH5 | c.7552C= (p.Leu2518=) c.7507C= (p.Leu2503=) n.408C= n.7759C= c.7660C= (p.Leu2554=) c.6565C= (p.Leu2189=) c.2749C= (p.Leu917=) c.2302C= (p.Leu768=) c.1639C= (p.Leu547=) c.6154C= (p.Leu2052=) n.7677C= | |
| 5 | g.13810116G>T | CA359231704 | DNAH5 | c.7552C>A (p.Leu2518Met) c.7507C>A (p.Leu2503Met) n.408C>A n.7759C>A c.7660C>A (p.Leu2554Met) c.6565C>A (p.Leu2189Met) c.2749C>A (p.Leu917Met) c.2302C>A (p.Leu768Met) c.1639C>A (p.Leu547Met) c.6154C>A (p.Leu2052Met) n.7677C>A | |
| 5 | g.13810117C>A | CA359231715 | DNAH5 | c.7551G>T (p.Glu2517Asp) c.7506G>T (p.Glu2502Asp) n.407G>T n.7758G>T c.7659G>T (p.Glu2553Asp) c.6564G>T (p.Glu2188Asp) c.2748G>T (p.Glu916Asp) c.2301G>T (p.Glu767Asp) c.1638G>T (p.Glu546Asp) c.6153G>T (p.Glu2051Asp) n.7676G>T | gnomAD v4 |
| 5 | g.13810117C>G | CA359231717 | DNAH5 | c.7551G>C (p.Glu2517Asp) c.7506G>C (p.Glu2502Asp) n.407G>C n.7758G>C c.7659G>C (p.Glu2553Asp) c.6564G>C (p.Glu2188Asp) c.2748G>C (p.Glu916Asp) c.2301G>C (p.Glu767Asp) c.1638G>C (p.Glu546Asp) c.6153G>C (p.Glu2051Asp) n.7676G>C | |
| 5 | g.13810117C>T | CA443272583 | DNAH5 | c.7551G>A (p.Glu2517=) c.7506G>A (p.Glu2502=) n.407G>A n.7758G>A c.7659G>A (p.Glu2553=) c.6564G>A (p.Glu2188=) c.2748G>A (p.Glu916=) c.2301G>A (p.Glu767=) c.1638G>A (p.Glu546=) c.6153G>A (p.Glu2051=) n.7676G>A | gnomAD v4 |
| 5 | g.13810118_13810126del | CA2673271824 | DNAH5 | c.7543_7551del (p.Thr2515_Glu2517del) c.7498_7506del (p.Thr2500_Glu2502del) n.399_407del n.7750_7758del c.7651_7659del (p.Thr2551_Glu2553del) c.6556_6564del (p.Thr2186_Glu2188del) c.2740_2748del (p.Thr914_Glu916del) c.2293_2301del (p.Thr765_Glu767del) c.1630_1638del (p.Thr544_Glu546del) c.6145_6153del (p.Thr2049_Glu2051del) n.7668_7676del | gnomAD v4 |
| 5 | g.13810118T>A | CA359231718 | DNAH5 | c.7550A>T (p.Glu2517Val) c.7505A>T (p.Glu2502Val) n.406A>T n.7757A>T c.7658A>T (p.Glu2553Val) c.6563A>T (p.Glu2188Val) c.2747A>T (p.Glu916Val) c.2300A>T (p.Glu767Val) c.1637A>T (p.Glu546Val) c.6152A>T (p.Glu2051Val) n.7675A>T | dbSNP gnomAD v4 |
| 5 | g.13810118T>C | CA359231720 | DNAH5 | c.7550A>G (p.Glu2517Gly) c.7505A>G (p.Glu2502Gly) n.406A>G n.7757A>G c.7658A>G (p.Glu2553Gly) c.6563A>G (p.Glu2188Gly) c.2747A>G (p.Glu916Gly) c.2300A>G (p.Glu767Gly) c.1637A>G (p.Glu546Gly) c.6152A>G (p.Glu2051Gly) n.7675A>G | |
| 5 | g.13810118T>G | CA359231722 | DNAH5 | c.7550A>C (p.Glu2517Ala) c.7505A>C (p.Glu2502Ala) n.406A>C n.7757A>C c.7658A>C (p.Glu2553Ala) c.6563A>C (p.Glu2188Ala) c.2747A>C (p.Glu916Ala) c.2300A>C (p.Glu767Ala) c.1637A>C (p.Glu546Ala) c.6152A>C (p.Glu2051Ala) n.7675A>C | |
| 5 | g.13810118T= | CA1528448877 | DNAH5 | c.7550A= (p.Glu2517=) c.7505A= (p.Glu2502=) n.406A= n.7757A= c.7658A= (p.Glu2553=) c.6563A= (p.Glu2188=) c.2747A= (p.Glu916=) c.2300A= (p.Glu767=) c.1637A= (p.Glu546=) c.6152A= (p.Glu2051=) n.7675A= | |
| 5 | g.13810119C>A | CA359231725 | DNAH5 | c.7549G>T (p.Glu2517Ter) c.7504G>T (p.Glu2502Ter) n.405G>T n.7756G>T c.7657G>T (p.Glu2553Ter) c.6562G>T (p.Glu2188Ter) c.2746G>T (p.Glu916Ter) c.2299G>T (p.Glu767Ter) c.1636G>T (p.Glu546Ter) c.6151G>T (p.Glu2051Ter) n.7674G>T | gnomAD v4 COSMIC |
| 5 | g.13810119C= | CA1528448878 | DNAH5 | c.7549G= (p.Glu2517=) c.7504G= (p.Glu2502=) n.405G= n.7756G= c.7657G= (p.Glu2553=) c.6562G= (p.Glu2188=) c.2746G= (p.Glu916=) c.2299G= (p.Glu767=) c.1636G= (p.Glu546=) c.6151G= (p.Glu2051=) n.7674G= | |
| 5 | g.13810119C>G | CA359231729 | DNAH5 | c.7549G>C (p.Glu2517Gln) c.7504G>C (p.Glu2502Gln) n.405G>C n.7756G>C c.7657G>C (p.Glu2553Gln) c.6562G>C (p.Glu2188Gln) c.2746G>C (p.Glu916Gln) c.2299G>C (p.Glu767Gln) c.1636G>C (p.Glu546Gln) c.6151G>C (p.Glu2051Gln) n.7674G>C | |
| 5 | g.13810119C>T | CA359231731 | DNAH5 | c.7549G>A (p.Glu2517Lys) c.7504G>A (p.Glu2502Lys) n.405G>A n.7756G>A c.7657G>A (p.Glu2553Lys) c.6562G>A (p.Glu2188Lys) c.2746G>A (p.Glu916Lys) c.2299G>A (p.Glu767Lys) c.1636G>A (p.Glu546Lys) c.6151G>A (p.Glu2051Lys) n.7674G>A | dbSNP gnomAD v4 COSMIC |
| 5 | g.13810119_13810120insACACATA | CA2580072020 | DNAH5 | c.7548_7549insTATGTGT (p.Glu2517TyrfsTer3) c.7503_7504insTATGTGT (p.Glu2502TyrfsTer3) n.404_405insTATGTGT n.7755_7756insTATGTGT c.7656_7657insTATGTGT (p.Glu2553TyrfsTer3) c.6561_6562insTATGTGT (p.Glu2188TyrfsTer3) c.2745_2746insTATGTGT (p.Glu916TyrfsTer3) c.2298_2299insTATGTGT (p.Glu767TyrfsTer3) c.1635_1636insTATGTGT (p.Glu546TyrfsTer3) c.6150_6151insTATGTGT (p.Glu2051TyrfsTer3) n.7673_7674insTATGTGT | ClinVar |
| 5 | g.13810120C>A | CA443272584 | DNAH5 | c.7548G>T (p.Leu2516=) c.7503G>T (p.Leu2501=) n.404G>T n.7755G>T c.7656G>T (p.Leu2552=) c.6561G>T (p.Leu2187=) c.2745G>T (p.Leu915=) c.2298G>T (p.Leu766=) c.1635G>T (p.Leu545=) c.6150G>T (p.Leu2050=) n.7673G>T | |
| 5 | g.13810120C= | CA1528448880 | DNAH5 | c.7548G= (p.Leu2516=) c.7503G= (p.Leu2501=) n.404G= n.7755G= c.7656G= (p.Leu2552=) c.6561G= (p.Leu2187=) c.2745G= (p.Leu915=) c.2298G= (p.Leu766=) c.1635G= (p.Leu545=) c.6150G= (p.Leu2050=) n.7673G= | |
| 5 | g.13810120C>G | CA443272585 | DNAH5 | c.7548G>C (p.Leu2516=) c.7503G>C (p.Leu2501=) n.404G>C n.7755G>C c.7656G>C (p.Leu2552=) c.6561G>C (p.Leu2187=) c.2745G>C (p.Leu915=) c.2298G>C (p.Leu766=) c.1635G>C (p.Leu545=) c.6150G>C (p.Leu2050=) n.7673G>C | |
| 5 | g.13810120C>T | CA443272586 | DNAH5 | c.7548G>A (p.Leu2516=) c.7503G>A (p.Leu2501=) n.404G>A n.7755G>A c.7656G>A (p.Leu2552=) c.6561G>A (p.Leu2187=) c.2745G>A (p.Leu915=) c.2298G>A (p.Leu766=) c.1635G>A (p.Leu545=) c.6150G>A (p.Leu2050=) n.7673G>A | dbSNP |
| 5 | g.13810121A>C | CA359231737 | DNAH5 | c.7547T>G (p.Leu2516Arg) c.7502T>G (p.Leu2501Arg) n.403T>G n.7754T>G c.7655T>G (p.Leu2552Arg) c.6560T>G (p.Leu2187Arg) c.2744T>G (p.Leu915Arg) c.2297T>G (p.Leu766Arg) c.1634T>G (p.Leu545Arg) c.6149T>G (p.Leu2050Arg) n.7672T>G | |
| 5 | g.13810121A>G | CA359231745 | DNAH5 | c.7547T>C (p.Leu2516Pro) c.7502T>C (p.Leu2501Pro) n.403T>C n.7754T>C c.7655T>C (p.Leu2552Pro) c.6560T>C (p.Leu2187Pro) c.2744T>C (p.Leu915Pro) c.2297T>C (p.Leu766Pro) c.1634T>C (p.Leu545Pro) c.6149T>C (p.Leu2050Pro) n.7672T>C | gnomAD v4 |
| 5 | g.13810121A>T | CA359231746 | DNAH5 | c.7547T>A (p.Leu2516Gln) c.7502T>A (p.Leu2501Gln) n.403T>A n.7754T>A c.7655T>A (p.Leu2552Gln) c.6560T>A (p.Leu2187Gln) c.2744T>A (p.Leu915Gln) c.2297T>A (p.Leu766Gln) c.1634T>A (p.Leu545Gln) c.6149T>A (p.Leu2050Gln) n.7672T>A | |
| 5 | g.13810122G>A | CA443272587 | DNAH5 | c.7546C>T (p.Leu2516=) c.7501C>T (p.Leu2501=) n.402C>T n.7753C>T c.7654C>T (p.Leu2552=) c.6559C>T (p.Leu2187=) c.2743C>T (p.Leu915=) c.2296C>T (p.Leu766=) c.1633C>T (p.Leu545=) c.6148C>T (p.Leu2050=) n.7671C>T | ClinVar dbSNP |
| 5 | g.13810122G>C | CA359231749 | DNAH5 | c.7546C>G (p.Leu2516Val) c.7501C>G (p.Leu2501Val) n.402C>G n.7753C>G c.7654C>G (p.Leu2552Val) c.6559C>G (p.Leu2187Val) c.2743C>G (p.Leu915Val) c.2296C>G (p.Leu766Val) c.1633C>G (p.Leu545Val) c.6148C>G (p.Leu2050Val) n.7671C>G | gnomAD v4 |
| 5 | g.13810122G>T | CA359231753 | DNAH5 | c.7546C>A (p.Leu2516Met) c.7501C>A (p.Leu2501Met) n.402C>A n.7753C>A c.7654C>A (p.Leu2552Met) c.6559C>A (p.Leu2187Met) c.2743C>A (p.Leu915Met) c.2296C>A (p.Leu766Met) c.1633C>A (p.Leu545Met) c.6148C>A (p.Leu2050Met) n.7671C>A | |
| 5 | g.13810123C>A | CA443272588 | DNAH5 | c.7545G>T (p.Thr2515=) c.7500G>T (p.Thr2500=) n.401G>T n.7752G>T c.7653G>T (p.Thr2551=) c.6558G>T (p.Thr2186=) c.2742G>T (p.Thr914=) c.2295G>T (p.Thr765=) c.1632G>T (p.Thr544=) c.6147G>T (p.Thr2049=) n.7670G>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.13810123C= | CA1528448882 | DNAH5 | c.7545G= (p.Thr2515=) c.7500G= (p.Thr2500=) n.401G= n.7752G= c.7653G= (p.Thr2551=) c.6558G= (p.Thr2186=) c.2742G= (p.Thr914=) c.2295G= (p.Thr765=) c.1632G= (p.Thr544=) c.6147G= (p.Thr2049=) n.7670G= | |
| 5 | g.13810123C>G | CA443272589 | DNAH5 | c.7545G>C (p.Thr2515=) c.7500G>C (p.Thr2500=) n.401G>C n.7752G>C c.7653G>C (p.Thr2551=) c.6558G>C (p.Thr2186=) c.2742G>C (p.Thr914=) c.2295G>C (p.Thr765=) c.1632G>C (p.Thr544=) c.6147G>C (p.Thr2049=) n.7670G>C | gnomAD v4 |
| 5 | g.13810123C>T | CA443272590 | DNAH5 | c.7545G>A (p.Thr2515=) c.7500G>A (p.Thr2500=) n.401G>A n.7752G>A c.7653G>A (p.Thr2551=) c.6558G>A (p.Thr2186=) c.2742G>A (p.Thr914=) c.2295G>A (p.Thr765=) c.1632G>A (p.Thr544=) c.6147G>A (p.Thr2049=) n.7670G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13810124G>A | CA359231764 | DNAH5 | c.7544C>T (p.Thr2515Met) c.7499C>T (p.Thr2500Met) n.400C>T n.7751C>T c.7652C>T (p.Thr2551Met) c.6557C>T (p.Thr2186Met) c.2741C>T (p.Thr914Met) c.2294C>T (p.Thr765Met) c.1631C>T (p.Thr544Met) c.6146C>T (p.Thr2049Met) n.7669C>T | dbSNP gnomAD v4 COSMIC |
| 5 | g.13810124G>C | CA359231762 | DNAH5 | c.7544C>G (p.Thr2515Arg) c.7499C>G (p.Thr2500Arg) n.400C>G n.7751C>G c.7652C>G (p.Thr2551Arg) c.6557C>G (p.Thr2186Arg) c.2741C>G (p.Thr914Arg) c.2294C>G (p.Thr765Arg) c.1631C>G (p.Thr544Arg) c.6146C>G (p.Thr2049Arg) n.7669C>G | |
| 5 | g.13810124G= | CA1528448884 | DNAH5 | c.7544C= (p.Thr2515=) c.7499C= (p.Thr2500=) n.400C= n.7751C= c.7652C= (p.Thr2551=) c.6557C= (p.Thr2186=) c.2741C= (p.Thr914=) c.2294C= (p.Thr765=) c.1631C= (p.Thr544=) c.6146C= (p.Thr2049=) n.7669C= | |
| 5 | g.13810124G>T | CA359231756 | DNAH5 | c.7544C>A (p.Thr2515Lys) c.7499C>A (p.Thr2500Lys) n.400C>A n.7751C>A c.7652C>A (p.Thr2551Lys) c.6557C>A (p.Thr2186Lys) c.2741C>A (p.Thr914Lys) c.2294C>A (p.Thr765Lys) c.1631C>A (p.Thr544Lys) c.6146C>A (p.Thr2049Lys) n.7669C>A | gnomAD v4 |
| 5 | g.13810125T>A | CA359231765 | DNAH5 | c.7543A>T (p.Thr2515Ser) c.7498A>T (p.Thr2500Ser) n.399A>T n.7750A>T c.7651A>T (p.Thr2551Ser) c.6556A>T (p.Thr2186Ser) c.2740A>T (p.Thr914Ser) c.2293A>T (p.Thr765Ser) c.1630A>T (p.Thr544Ser) c.6145A>T (p.Thr2049Ser) n.7668A>T | |
| 5 | g.13810125T>C | CA359231767 | DNAH5 | c.7543A>G (p.Thr2515Ala) c.7498A>G (p.Thr2500Ala) n.399A>G n.7750A>G c.7651A>G (p.Thr2551Ala) c.6556A>G (p.Thr2186Ala) c.2740A>G (p.Thr914Ala) c.2293A>G (p.Thr765Ala) c.1630A>G (p.Thr544Ala) c.6145A>G (p.Thr2049Ala) n.7668A>G | |
| 5 | g.13810125T>G | CA359231777 | DNAH5 | c.7543A>C (p.Thr2515Pro) c.7498A>C (p.Thr2500Pro) n.399A>C n.7750A>C c.7651A>C (p.Thr2551Pro) c.6556A>C (p.Thr2186Pro) c.2740A>C (p.Thr914Pro) c.2293A>C (p.Thr765Pro) c.1630A>C (p.Thr544Pro) c.6145A>C (p.Thr2049Pro) n.7668A>C | |
| 5 | g.13810126_13810129dup | CA557876641 | DNAH5 | c.7540_7543dup (p.Thr2515ArgfsTer?) c.7495_7498dup (p.Thr2500ArgfsTer?) n.396_399dup n.7747_7750dup c.7648_7651dup (p.Thr2551ArgfsTer?) c.6553_6556dup (p.Thr2186ArgfsTer?) c.2737_2740dup (p.Thr914ArgfsTer?) c.2290_2293dup (p.Thr765ArgfsTer?) c.1627_1630dup (p.Thr544ArgfsTer?) c.6142_6145dup (p.Thr2049ArgfsTer?) n.7665_7668dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13810126C>A | CA443272592 | DNAH5 | c.7542G>T (p.Gly2514=) c.7497G>T (p.Gly2499=) n.398G>T n.7749G>T c.7650G>T (p.Gly2550=) c.6555G>T (p.Gly2185=) c.2739G>T (p.Gly913=) c.2292G>T (p.Gly764=) c.1629G>T (p.Gly543=) c.6144G>T (p.Gly2048=) n.7667G>T | gnomAD v4 |
| 5 | g.13810126C= | CA1528448888 | DNAH5 | c.7542G= (p.Gly2514=) c.7497G= (p.Gly2499=) n.398G= n.7749G= c.7650G= (p.Gly2550=) c.6555G= (p.Gly2185=) c.2739G= (p.Gly913=) c.2292G= (p.Gly764=) c.1629G= (p.Gly543=) c.6144G= (p.Gly2048=) n.7667G= | |
| 5 | g.13810126C>G | CA443272593 | DNAH5 | c.7542G>C (p.Gly2514=) c.7497G>C (p.Gly2499=) n.398G>C n.7749G>C c.7650G>C (p.Gly2550=) c.6555G>C (p.Gly2185=) c.2739G>C (p.Gly913=) c.2292G>C (p.Gly764=) c.1629G>C (p.Gly543=) c.6144G>C (p.Gly2048=) n.7667G>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13810126C>T | CA443272594 | DNAH5 | c.7542G>A (p.Gly2514=) c.7497G>A (p.Gly2499=) n.398G>A n.7749G>A c.7650G>A (p.Gly2550=) c.6555G>A (p.Gly2185=) c.2739G>A (p.Gly913=) c.2292G>A (p.Gly764=) c.1629G>A (p.Gly543=) c.6144G>A (p.Gly2048=) n.7667G>A | |
| 5 | g.13810127C>A | CA3203075 | DNAH5 | c.7541G>T (p.Gly2514Val) c.7496G>T (p.Gly2499Val) n.397G>T n.7748G>T c.7649G>T (p.Gly2550Val) c.6554G>T (p.Gly2185Val) c.2738G>T (p.Gly913Val) c.2291G>T (p.Gly764Val) c.1628G>T (p.Gly543Val) c.6143G>T (p.Gly2048Val) n.7666G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13810127C= | CA1528448890 | DNAH5 | c.7541G= (p.Gly2514=) c.7496G= (p.Gly2499=) n.397G= n.7748G= c.7649G= (p.Gly2550=) c.6554G= (p.Gly2185=) c.2738G= (p.Gly913=) c.2291G= (p.Gly764=) c.1628G= (p.Gly543=) c.6143G= (p.Gly2048=) n.7666G= | |
| 5 | g.13810127C>G | CA359231792 | DNAH5 | c.7541G>C (p.Gly2514Ala) c.7496G>C (p.Gly2499Ala) n.397G>C n.7748G>C c.7649G>C (p.Gly2550Ala) c.6554G>C (p.Gly2185Ala) c.2738G>C (p.Gly913Ala) c.2291G>C (p.Gly764Ala) c.1628G>C (p.Gly543Ala) c.6143G>C (p.Gly2048Ala) n.7666G>C | |
| 5 | g.13810127C>T | CA359231795 | DNAH5 | c.7541G>A (p.Gly2514Glu) c.7496G>A (p.Gly2499Glu) n.397G>A n.7748G>A c.7649G>A (p.Gly2550Glu) c.6554G>A (p.Gly2185Glu) c.2738G>A (p.Gly913Glu) c.2291G>A (p.Gly764Glu) c.1628G>A (p.Gly543Glu) c.6143G>A (p.Gly2048Glu) n.7666G>A | gnomAD v4 |
| 5 | g.13810128C>A | CA359231799 | DNAH5 | c.7540G>T (p.Gly2514Trp) c.7495G>T (p.Gly2499Trp) n.396G>T n.7747G>T c.7648G>T (p.Gly2550Trp) c.6553G>T (p.Gly2185Trp) c.2737G>T (p.Gly913Trp) c.2290G>T (p.Gly764Trp) c.1627G>T (p.Gly543Trp) c.6142G>T (p.Gly2048Trp) n.7665G>T | dbSNP gnomAD v4 |
| 5 | g.13810128C>G | CA359231802 | DNAH5 | c.7540G>C (p.Gly2514Arg) c.7495G>C (p.Gly2499Arg) n.396G>C n.7747G>C c.7648G>C (p.Gly2550Arg) c.6553G>C (p.Gly2185Arg) c.2737G>C (p.Gly913Arg) c.2290G>C (p.Gly764Arg) c.1627G>C (p.Gly543Arg) c.6142G>C (p.Gly2048Arg) n.7665G>C | |
| 5 | g.13810128C>T | CA359231805 | DNAH5 | c.7540G>A (p.Gly2514Arg) c.7495G>A (p.Gly2499Arg) n.396G>A n.7747G>A c.7648G>A (p.Gly2550Arg) c.6553G>A (p.Gly2185Arg) c.2737G>A (p.Gly913Arg) c.2290G>A (p.Gly764Arg) c.1627G>A (p.Gly543Arg) c.6142G>A (p.Gly2048Arg) n.7665G>A | |
| 5 | g.13810129T>A | CA443272596 | DNAH5 | c.7539A>T (p.Thr2513=) c.7494A>T (p.Thr2498=) n.395A>T n.7746A>T c.7647A>T (p.Thr2549=) c.6552A>T (p.Thr2184=) c.2736A>T (p.Thr912=) c.2289A>T (p.Thr763=) c.1626A>T (p.Thr542=) c.6141A>T (p.Thr2047=) n.7664A>T | |
| 5 | g.13810129T>C | CA3203076 | DNAH5 | c.7539A>G (p.Thr2513=) c.7494A>G (p.Thr2498=) n.395A>G n.7746A>G c.7647A>G (p.Thr2549=) c.6552A>G (p.Thr2184=) c.2736A>G (p.Thr912=) c.2289A>G (p.Thr763=) c.1626A>G (p.Thr542=) c.6141A>G (p.Thr2047=) n.7664A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13810129T>G | CA443272597 | DNAH5 | c.7539A>C (p.Thr2513=) c.7494A>C (p.Thr2498=) n.395A>C n.7746A>C c.7647A>C (p.Thr2549=) c.6552A>C (p.Thr2184=) c.2736A>C (p.Thr912=) c.2289A>C (p.Thr763=) c.1626A>C (p.Thr542=) c.6141A>C (p.Thr2047=) n.7664A>C | |
| 5 | g.13810129T= | CA1528448892 | DNAH5 | c.7539A= (p.Thr2513=) c.7494A= (p.Thr2498=) n.395A= n.7746A= c.7647A= (p.Thr2549=) c.6552A= (p.Thr2184=) c.2736A= (p.Thr912=) c.2289A= (p.Thr763=) c.1626A= (p.Thr542=) c.6141A= (p.Thr2047=) n.7664A= | |
| 5 | g.13810130G>A | CA359231808 | DNAH5 | c.7538C>T (p.Thr2513Ile) c.7493C>T (p.Thr2498Ile) n.394C>T n.7745C>T c.7646C>T (p.Thr2549Ile) c.6551C>T (p.Thr2184Ile) c.2735C>T (p.Thr912Ile) c.2288C>T (p.Thr763Ile) c.1625C>T (p.Thr542Ile) c.6140C>T (p.Thr2047Ile) n.7663C>T | gnomAD v4 |
| 5 | g.13810130G>C | CA113979134 | DNAH5 | c.7538C>G (p.Thr2513Arg) c.7493C>G (p.Thr2498Arg) n.394C>G n.7745C>G c.7646C>G (p.Thr2549Arg) c.6551C>G (p.Thr2184Arg) c.2735C>G (p.Thr912Arg) c.2288C>G (p.Thr763Arg) c.1625C>G (p.Thr542Arg) c.6140C>G (p.Thr2047Arg) n.7663C>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13810130G= | CA1528448894 | DNAH5 | c.7538C= (p.Thr2513=) c.7493C= (p.Thr2498=) n.394C= n.7745C= c.7646C= (p.Thr2549=) c.6551C= (p.Thr2184=) c.2735C= (p.Thr912=) c.2288C= (p.Thr763=) c.1625C= (p.Thr542=) c.6140C= (p.Thr2047=) n.7663C= | |
| 5 | g.13810130G>T | CA359231816 | DNAH5 | c.7538C>A (p.Thr2513Lys) c.7493C>A (p.Thr2498Lys) n.394C>A n.7745C>A c.7646C>A (p.Thr2549Lys) c.6551C>A (p.Thr2184Lys) c.2735C>A (p.Thr912Lys) c.2288C>A (p.Thr763Lys) c.1625C>A (p.Thr542Lys) c.6140C>A (p.Thr2047Lys) n.7663C>A | gnomAD v4 |
| 5 | g.13810131T>A | CA359231822 | DNAH5 | c.7537A>T (p.Thr2513Ser) c.7492A>T (p.Thr2498Ser) n.393A>T n.7744A>T c.7645A>T (p.Thr2549Ser) c.6550A>T (p.Thr2184Ser) c.2734A>T (p.Thr912Ser) c.2287A>T (p.Thr763Ser) c.1624A>T (p.Thr542Ser) c.6139A>T (p.Thr2047Ser) n.7662A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13810131T>C | CA113979136 | DNAH5 | c.7537A>G (p.Thr2513Ala) c.7492A>G (p.Thr2498Ala) n.393A>G n.7744A>G c.7645A>G (p.Thr2549Ala) c.6550A>G (p.Thr2184Ala) c.2734A>G (p.Thr912Ala) c.2287A>G (p.Thr763Ala) c.1624A>G (p.Thr542Ala) c.6139A>G (p.Thr2047Ala) n.7662A>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13810131T>G | CA359231818 | DNAH5 | c.7537A>C (p.Thr2513Pro) c.7492A>C (p.Thr2498Pro) n.393A>C n.7744A>C c.7645A>C (p.Thr2549Pro) c.6550A>C (p.Thr2184Pro) c.2734A>C (p.Thr912Pro) c.2287A>C (p.Thr763Pro) c.1624A>C (p.Thr542Pro) c.6139A>C (p.Thr2047Pro) n.7662A>C | |
| 5 | g.13810131T= | CA1528448896 | DNAH5 | c.7537A= (p.Thr2513=) c.7492A= (p.Thr2498=) n.393A= n.7744A= c.7645A= (p.Thr2549=) c.6550A= (p.Thr2184=) c.2734A= (p.Thr912=) c.2287A= (p.Thr763=) c.1624A= (p.Thr542=) c.6139A= (p.Thr2047=) n.7662A= | |
| 5 | g.13810132G>A | CA443272599 | DNAH5 | c.7536C>T (p.Pro2512=) c.7491C>T (p.Pro2497=) n.392C>T n.7743C>T c.7644C>T (p.Pro2548=) c.6549C>T (p.Pro2183=) c.2733C>T (p.Pro911=) c.2286C>T (p.Pro762=) c.1623C>T (p.Pro541=) c.6138C>T (p.Pro2046=) n.7661C>T | gnomAD v4 |
| 5 | g.13810132G>C | CA443272600 | DNAH5 | c.7536C>G (p.Pro2512=) c.7491C>G (p.Pro2497=) n.392C>G n.7743C>G c.7644C>G (p.Pro2548=) c.6549C>G (p.Pro2183=) c.2733C>G (p.Pro911=) c.2286C>G (p.Pro762=) c.1623C>G (p.Pro541=) c.6138C>G (p.Pro2046=) n.7661C>G | gnomAD v4 |
| 5 | g.13810132G>T | CA443272601 | DNAH5 | c.7536C>A (p.Pro2512=) c.7491C>A (p.Pro2497=) n.392C>A n.7743C>A c.7644C>A (p.Pro2548=) c.6549C>A (p.Pro2183=) c.2733C>A (p.Pro911=) c.2286C>A (p.Pro762=) c.1623C>A (p.Pro541=) c.6138C>A (p.Pro2046=) n.7661C>A | gnomAD v4 |
| 5 | g.13810134dup | CA917418229 | DNAH5 | c.7536dup (p.Thr2513HisfsTer?) c.7491dup (p.Thr2498HisfsTer?) n.392dup n.7743dup c.7644dup (p.Thr2549HisfsTer?) c.6549dup (p.Thr2184HisfsTer?) c.2733dup (p.Thr912HisfsTer?) c.2286dup (p.Thr763HisfsTer?) c.1623dup (p.Thr542HisfsTer?) c.6138dup (p.Thr2047HisfsTer?) n.7661dup | ClinVar dbSNP |
| 5 | g.13810133G>A | CA359231823 | DNAH5 | c.7535C>T (p.Pro2512Leu) c.7490C>T (p.Pro2497Leu) n.391C>T n.7742C>T c.7643C>T (p.Pro2548Leu) c.6548C>T (p.Pro2183Leu) c.2732C>T (p.Pro911Leu) c.2285C>T (p.Pro762Leu) c.1622C>T (p.Pro541Leu) c.6137C>T (p.Pro2046Leu) n.7660C>T | gnomAD v4 |
| 5 | g.13810133G>C | CA3203077 | DNAH5 | c.7535C>G (p.Pro2512Arg) c.7490C>G (p.Pro2497Arg) n.391C>G n.7742C>G c.7643C>G (p.Pro2548Arg) c.6548C>G (p.Pro2183Arg) c.2732C>G (p.Pro911Arg) c.2285C>G (p.Pro762Arg) c.1622C>G (p.Pro541Arg) c.6137C>G (p.Pro2046Arg) n.7660C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13810133G= | CA1528448900 | DNAH5 | c.7535C= (p.Pro2512=) c.7490C= (p.Pro2497=) n.391C= n.7742C= c.7643C= (p.Pro2548=) c.6548C= (p.Pro2183=) c.2732C= (p.Pro911=) c.2285C= (p.Pro762=) c.1622C= (p.Pro541=) c.6137C= (p.Pro2046=) n.7660C= | |
| 5 | g.13810133G>T | CA359231825 | DNAH5 | c.7535C>A (p.Pro2512His) c.7490C>A (p.Pro2497His) n.391C>A n.7742C>A c.7643C>A (p.Pro2548His) c.6548C>A (p.Pro2183His) c.2732C>A (p.Pro911His) c.2285C>A (p.Pro762His) c.1622C>A (p.Pro541His) c.6137C>A (p.Pro2046His) n.7660C>A | gnomAD v4 |
| 5 | g.13810133_13810134insACGCT | CA2673271825 | DNAH5 | c.7534_7535insAGCGT (p.Pro2512GlnfsTer?) c.7489_7490insAGCGT (p.Pro2497GlnfsTer?) n.390_391insAGCGT n.7741_7742insAGCGT c.7642_7643insAGCGT (p.Pro2548GlnfsTer?) c.6547_6548insAGCGT (p.Pro2183GlnfsTer?) c.2731_2732insAGCGT (p.Pro911GlnfsTer?) c.2284_2285insAGCGT (p.Pro762GlnfsTer?) c.1621_1622insAGCGT (p.Pro541GlnfsTer?) c.6136_6137insAGCGT (p.Pro2046GlnfsTer?) n.7659_7660insAGCGT | gnomAD v4 |
| 5 | g.13810134G>A | CA359231829 | DNAH5 | c.7534C>T (p.Pro2512Ser) c.7489C>T (p.Pro2497Ser) n.390C>T n.7741C>T c.7642C>T (p.Pro2548Ser) c.6547C>T (p.Pro2183Ser) c.2731C>T (p.Pro911Ser) c.2284C>T (p.Pro762Ser) c.1621C>T (p.Pro541Ser) c.6136C>T (p.Pro2046Ser) n.7659C>T | dbSNP gnomAD v4 |
| 5 | g.13810134G>C | CA359231831 | DNAH5 | c.7534C>G (p.Pro2512Ala) c.7489C>G (p.Pro2497Ala) n.390C>G n.7741C>G c.7642C>G (p.Pro2548Ala) c.6547C>G (p.Pro2183Ala) c.2731C>G (p.Pro911Ala) c.2284C>G (p.Pro762Ala) c.1621C>G (p.Pro541Ala) c.6136C>G (p.Pro2046Ala) n.7659C>G | ClinVar dbSNP |
| 5 | g.13810134G= | CA1528448902 | DNAH5 | c.7534C= (p.Pro2512=) c.7489C= (p.Pro2497=) n.390C= n.7741C= c.7642C= (p.Pro2548=) c.6547C= (p.Pro2183=) c.2731C= (p.Pro911=) c.2284C= (p.Pro762=) c.1621C= (p.Pro541=) c.6136C= (p.Pro2046=) n.7659C= | |
| 5 | g.13810134G>T | CA359231832 | DNAH5 | c.7534C>A (p.Pro2512Thr) c.7489C>A (p.Pro2497Thr) n.390C>A n.7741C>A c.7642C>A (p.Pro2548Thr) c.6547C>A (p.Pro2183Thr) c.2731C>A (p.Pro911Thr) c.2284C>A (p.Pro762Thr) c.1621C>A (p.Pro541Thr) c.6136C>A (p.Pro2046Thr) n.7659C>A | gnomAD v4 |
| 5 | g.13810135C>A | CA443272602 | DNAH5 | c.7533G>T (p.Arg2511=) c.7488G>T (p.Arg2496=) n.389G>T n.7740G>T c.7641G>T (p.Arg2547=) c.6546G>T (p.Arg2182=) c.2730G>T (p.Arg910=) c.2283G>T (p.Arg761=) c.1620G>T (p.Arg540=) c.6135G>T (p.Arg2045=) n.7658G>T | |
| 5 | g.13810135C= | CA1528448905 | DNAH5 | c.7533G= (p.Arg2511=) c.7488G= (p.Arg2496=) n.389G= n.7740G= c.7641G= (p.Arg2547=) c.6546G= (p.Arg2182=) c.2730G= (p.Arg910=) c.2283G= (p.Arg761=) c.1620G= (p.Arg540=) c.6135G= (p.Arg2045=) n.7658G= | |
| 5 | g.13810135C>G | CA443272603 | DNAH5 | c.7533G>C (p.Arg2511=) c.7488G>C (p.Arg2496=) n.389G>C n.7740G>C c.7641G>C (p.Arg2547=) c.6546G>C (p.Arg2182=) c.2730G>C (p.Arg910=) c.2283G>C (p.Arg761=) c.1620G>C (p.Arg540=) c.6135G>C (p.Arg2045=) n.7658G>C | |
| 5 | g.13810135C>T | CA443272604 | DNAH5 | c.7533G>A (p.Arg2511=) c.7488G>A (p.Arg2496=) n.389G>A n.7740G>A c.7641G>A (p.Arg2547=) c.6546G>A (p.Arg2182=) c.2730G>A (p.Arg910=) c.2283G>A (p.Arg761=) c.1620G>A (p.Arg540=) c.6135G>A (p.Arg2045=) n.7658G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13810136C>A | CA359231833 | DNAH5 | c.7532G>T (p.Arg2511Leu) c.7487G>T (p.Arg2496Leu) n.388G>T n.7739G>T c.7640G>T (p.Arg2547Leu) c.6545G>T (p.Arg2182Leu) c.2729G>T (p.Arg910Leu) c.2282G>T (p.Arg761Leu) c.1619G>T (p.Arg540Leu) c.6134G>T (p.Arg2045Leu) n.7657G>T | gnomAD v4 |
| 5 | g.13810136C= | CA1528448907 | DNAH5 | c.7532G= (p.Arg2511=) c.7487G= (p.Arg2496=) n.388G= n.7739G= c.7640G= (p.Arg2547=) c.6545G= (p.Arg2182=) c.2729G= (p.Arg910=) c.2282G= (p.Arg761=) c.1619G= (p.Arg540=) c.6134G= (p.Arg2045=) n.7657G= | |
| 5 | g.13810136C>G | CA359231835 | DNAH5 | c.7532G>C (p.Arg2511Pro) c.7487G>C (p.Arg2496Pro) n.388G>C n.7739G>C c.7640G>C (p.Arg2547Pro) c.6545G>C (p.Arg2182Pro) c.2729G>C (p.Arg910Pro) c.2282G>C (p.Arg761Pro) c.1619G>C (p.Arg540Pro) c.6134G>C (p.Arg2045Pro) n.7657G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13810136C>T | CA359231839 | DNAH5 | c.7532G>A (p.Arg2511Gln) c.7487G>A (p.Arg2496Gln) n.388G>A n.7739G>A c.7640G>A (p.Arg2547Gln) c.6545G>A (p.Arg2182Gln) c.2729G>A (p.Arg910Gln) c.2282G>A (p.Arg761Gln) c.1619G>A (p.Arg540Gln) c.6134G>A (p.Arg2045Gln) n.7657G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13810136_13810137insCTG | CA2673271826 | DNAH5 | c.7531_7532insCAG (p.Arg2511delinsProGly) c.7486_7487insCAG (p.Arg2496delinsProGly) n.387_388insCAG n.7738_7739insCAG c.7639_7640insCAG (p.Arg2547delinsProGly) c.6544_6545insCAG (p.Arg2182delinsProGly) c.2728_2729insCAG (p.Arg910delinsProGly) c.2281_2282insCAG (p.Arg761delinsProGly) c.1618_1619insCAG (p.Arg540delinsProGly) c.6133_6134insCAG (p.Arg2045delinsProGly) n.7656_7657insCAG | gnomAD v4 |
| 5 | g.13810137G>A | CA245724 | DNAH5 | c.7531C>T (p.Arg2511Trp) c.7486C>T (p.Arg2496Trp) n.387C>T n.7738C>T c.7639C>T (p.Arg2547Trp) c.6544C>T (p.Arg2182Trp) c.2728C>T (p.Arg910Trp) c.2281C>T (p.Arg761Trp) c.1618C>T (p.Arg540Trp) c.6133C>T (p.Arg2045Trp) n.7656C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13810137G>C | CA359231856 | DNAH5 | c.7531C>G (p.Arg2511Gly) c.7486C>G (p.Arg2496Gly) n.387C>G n.7738C>G c.7639C>G (p.Arg2547Gly) c.6544C>G (p.Arg2182Gly) c.2728C>G (p.Arg910Gly) c.2281C>G (p.Arg761Gly) c.1618C>G (p.Arg540Gly) c.6133C>G (p.Arg2045Gly) n.7656C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13810137G= | CA1528448910 | DNAH5 | c.7531C= (p.Arg2511=) c.7486C= (p.Arg2496=) n.387C= n.7738C= c.7639C= (p.Arg2547=) c.6544C= (p.Arg2182=) c.2728C= (p.Arg910=) c.2281C= (p.Arg761=) c.1618C= (p.Arg540=) c.6133C= (p.Arg2045=) n.7656C= | |
| 5 | g.13810137G>T | CA443272605 | DNAH5 | c.7531C>A (p.Arg2511=) c.7486C>A (p.Arg2496=) n.387C>A n.7738C>A c.7639C>A (p.Arg2547=) c.6544C>A (p.Arg2182=) c.2728C>A (p.Arg910=) c.2281C>A (p.Arg761=) c.1618C>A (p.Arg540=) c.6133C>A (p.Arg2045=) n.7656C>A | gnomAD v4 |
| 5 | g.13810138A>C | CA443272606 | DNAH5 | c.7530T>G (p.Ser2510=) c.7485T>G (p.Ser2495=) n.386T>G n.7737T>G c.7638T>G (p.Ser2546=) c.6543T>G (p.Ser2181=) c.2727T>G (p.Ser909=) c.2280T>G (p.Ser760=) c.1617T>G (p.Ser539=) c.6132T>G (p.Ser2044=) n.7655T>G | |
| 5 | g.13810138A>G | CA443272607 | DNAH5 | c.7530T>C (p.Ser2510=) c.7485T>C (p.Ser2495=) n.386T>C n.7737T>C c.7638T>C (p.Ser2546=) c.6543T>C (p.Ser2181=) c.2727T>C (p.Ser909=) c.2280T>C (p.Ser760=) c.1617T>C (p.Ser539=) c.6132T>C (p.Ser2044=) n.7655T>C | |
| 5 | g.13810138A>T | CA443272608 | DNAH5 | c.7530T>A (p.Ser2510=) c.7485T>A (p.Ser2495=) n.386T>A n.7737T>A c.7638T>A (p.Ser2546=) c.6543T>A (p.Ser2181=) c.2727T>A (p.Ser909=) c.2280T>A (p.Ser760=) c.1617T>A (p.Ser539=) c.6132T>A (p.Ser2044=) n.7655T>A | |
| 5 | g.13810139G>A | CA359231864 | DNAH5 | c.7529C>T (p.Ser2510Phe) c.7484C>T (p.Ser2495Phe) n.385C>T n.7736C>T c.7637C>T (p.Ser2546Phe) c.6542C>T (p.Ser2181Phe) c.2726C>T (p.Ser909Phe) c.2279C>T (p.Ser760Phe) c.1616C>T (p.Ser539Phe) c.6131C>T (p.Ser2044Phe) n.7654C>T | |
| 5 | g.13810139G>C | CA359231866 | DNAH5 | c.7529C>G (p.Ser2510Cys) c.7484C>G (p.Ser2495Cys) n.385C>G n.7736C>G c.7637C>G (p.Ser2546Cys) c.6542C>G (p.Ser2181Cys) c.2726C>G (p.Ser909Cys) c.2279C>G (p.Ser760Cys) c.1616C>G (p.Ser539Cys) c.6131C>G (p.Ser2044Cys) n.7654C>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13810139G= | CA1528448915 | DNAH5 | c.7529C= (p.Ser2510=) c.7484C= (p.Ser2495=) n.385C= n.7736C= c.7637C= (p.Ser2546=) c.6542C= (p.Ser2181=) c.2726C= (p.Ser909=) c.2279C= (p.Ser760=) c.1616C= (p.Ser539=) c.6131C= (p.Ser2044=) n.7654C= | |
| 5 | g.13810139G>T | CA359231868 | DNAH5 | c.7529C>A (p.Ser2510Tyr) c.7484C>A (p.Ser2495Tyr) n.385C>A n.7736C>A c.7637C>A (p.Ser2546Tyr) c.6542C>A (p.Ser2181Tyr) c.2726C>A (p.Ser909Tyr) c.2279C>A (p.Ser760Tyr) c.1616C>A (p.Ser539Tyr) c.6131C>A (p.Ser2044Tyr) n.7654C>A | |
| 5 | g.13810140A>C | CA359231879 | DNAH5 | c.7528T>G (p.Ser2510Ala) c.7483T>G (p.Ser2495Ala) n.384T>G n.7735T>G c.7636T>G (p.Ser2546Ala) c.6541T>G (p.Ser2181Ala) c.2725T>G (p.Ser909Ala) c.2278T>G (p.Ser760Ala) c.1615T>G (p.Ser539Ala) c.6130T>G (p.Ser2044Ala) n.7653T>G | |
| 5 | g.13810140A>G | CA359231880 | DNAH5 | c.7528T>C (p.Ser2510Pro) c.7483T>C (p.Ser2495Pro) n.384T>C n.7735T>C c.7636T>C (p.Ser2546Pro) c.6541T>C (p.Ser2181Pro) c.2725T>C (p.Ser909Pro) c.2278T>C (p.Ser760Pro) c.1615T>C (p.Ser539Pro) c.6130T>C (p.Ser2044Pro) n.7653T>C | |
| 5 | g.13810140A>T | CA359231872 | DNAH5 | c.7528T>A (p.Ser2510Thr) c.7483T>A (p.Ser2495Thr) n.384T>A n.7735T>A c.7636T>A (p.Ser2546Thr) c.6541T>A (p.Ser2181Thr) c.2725T>A (p.Ser909Thr) c.2278T>A (p.Ser760Thr) c.1615T>A (p.Ser539Thr) c.6130T>A (p.Ser2044Thr) n.7653T>A | gnomAD v4 |
| 5 | g.13810141G>A | CA443272609 | DNAH5 | c.7527C>T (p.Arg2509=) c.7482C>T (p.Arg2494=) n.383C>T n.7734C>T c.7635C>T (p.Arg2545=) c.6540C>T (p.Arg2180=) c.2724C>T (p.Arg908=) c.2277C>T (p.Arg759=) c.1614C>T (p.Arg538=) c.6129C>T (p.Arg2043=) n.7652C>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.13810141G>C | CA443272610 | DNAH5 | c.7527C>G (p.Arg2509=) c.7482C>G (p.Arg2494=) n.383C>G n.7734C>G c.7635C>G (p.Arg2545=) c.6540C>G (p.Arg2180=) c.2724C>G (p.Arg908=) c.2277C>G (p.Arg759=) c.1614C>G (p.Arg538=) c.6129C>G (p.Arg2043=) n.7652C>G | |
| 5 | g.13810141G>T | CA443272611 | DNAH5 | c.7527C>A (p.Arg2509=) c.7482C>A (p.Arg2494=) n.383C>A n.7734C>A c.7635C>A (p.Arg2545=) c.6540C>A (p.Arg2180=) c.2724C>A (p.Arg908=) c.2277C>A (p.Arg759=) c.1614C>A (p.Arg538=) c.6129C>A (p.Arg2043=) n.7652C>A | |
| 5 | g.13810143_13810144dup | CA2580613520 | DNAH5 | c.7526_7527dup (p.Ser2510AlafsTer?) c.7481_7482dup (p.Ser2495AlafsTer?) n.382_383dup n.7733_7734dup c.7634_7635dup (p.Ser2546AlafsTer?) c.6539_6540dup (p.Ser2181AlafsTer?) c.2723_2724dup (p.Ser909AlafsTer?) c.2276_2277dup (p.Ser760AlafsTer?) c.1613_1614dup (p.Ser539AlafsTer?) c.6128_6129dup (p.Ser2044AlafsTer?) n.7651_7652dup | ClinVar dbSNP |
| 5 | g.13810142C>A | CA359231881 | DNAH5 | c.7526G>T (p.Arg2509Leu) c.7481G>T (p.Arg2494Leu) n.382G>T n.7733G>T c.7634G>T (p.Arg2545Leu) c.6539G>T (p.Arg2180Leu) c.2723G>T (p.Arg908Leu) c.2276G>T (p.Arg759Leu) c.1613G>T (p.Arg538Leu) c.6128G>T (p.Arg2043Leu) n.7651G>T | gnomAD v4 |
| 5 | g.13810142C= | CA1528448917 | DNAH5 | c.7526G= (p.Arg2509=) c.7481G= (p.Arg2494=) n.382G= n.7733G= c.7634G= (p.Arg2545=) c.6539G= (p.Arg2180=) c.2723G= (p.Arg908=) c.2276G= (p.Arg759=) c.1613G= (p.Arg538=) c.6128G= (p.Arg2043=) n.7651G= | |
| 5 | g.13810142C>G | CA359231883 | DNAH5 | c.7526G>C (p.Arg2509Pro) c.7481G>C (p.Arg2494Pro) n.382G>C n.7733G>C c.7634G>C (p.Arg2545Pro) c.6539G>C (p.Arg2180Pro) c.2723G>C (p.Arg908Pro) c.2276G>C (p.Arg759Pro) c.1613G>C (p.Arg538Pro) c.6128G>C (p.Arg2043Pro) n.7651G>C | |
| 5 | g.13810142C>T | CA359231885 | DNAH5 | c.7526G>A (p.Arg2509His) c.7481G>A (p.Arg2494His) n.382G>A n.7733G>A c.7634G>A (p.Arg2545His) c.6539G>A (p.Arg2180His) c.2723G>A (p.Arg908His) c.2276G>A (p.Arg759His) c.1613G>A (p.Arg538His) c.6128G>A (p.Arg2043His) n.7651G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13810143G>A | CA3203078 | DNAH5 | c.7525C>T (p.Arg2509Cys) c.7480C>T (p.Arg2494Cys) n.381C>T n.7732C>T c.7633C>T (p.Arg2545Cys) c.6538C>T (p.Arg2180Cys) c.2722C>T (p.Arg908Cys) c.2275C>T (p.Arg759Cys) c.1612C>T (p.Arg538Cys) c.6127C>T (p.Arg2043Cys) n.7650C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13810143G>C | CA359231889 | DNAH5 | c.7525C>G (p.Arg2509Gly) c.7480C>G (p.Arg2494Gly) n.381C>G n.7732C>G c.7633C>G (p.Arg2545Gly) c.6538C>G (p.Arg2180Gly) c.2722C>G (p.Arg908Gly) c.2275C>G (p.Arg759Gly) c.1612C>G (p.Arg538Gly) c.6127C>G (p.Arg2043Gly) n.7650C>G | |
| 5 | g.13810143G= | CA1528448920 | DNAH5 | c.7525C= (p.Arg2509=) c.7480C= (p.Arg2494=) n.381C= n.7732C= c.7633C= (p.Arg2545=) c.6538C= (p.Arg2180=) c.2722C= (p.Arg908=) c.2275C= (p.Arg759=) c.1612C= (p.Arg538=) c.6127C= (p.Arg2043=) n.7650C= | |
| 5 | g.13810143G>T | CA359231892 | DNAH5 | c.7525C>A (p.Arg2509Ser) c.7480C>A (p.Arg2494Ser) n.381C>A n.7732C>A c.7633C>A (p.Arg2545Ser) c.6538C>A (p.Arg2180Ser) c.2722C>A (p.Arg908Ser) c.2275C>A (p.Arg759Ser) c.1612C>A (p.Arg538Ser) c.6127C>A (p.Arg2043Ser) n.7650C>A | gnomAD v4 |
| 5 | g.13810144C>A | CA443272612 | DNAH5 | c.7524G>T (p.Leu2508=) c.7479G>T (p.Leu2493=) n.380G>T n.7731G>T c.7632G>T (p.Leu2544=) c.6537G>T (p.Leu2179=) c.2721G>T (p.Leu907=) c.2274G>T (p.Leu758=) c.1611G>T (p.Leu537=) c.6126G>T (p.Leu2042=) n.7649G>T | gnomAD v4 |
| 5 | g.13810144C= | CA1528448922 | DNAH5 | c.7524G= (p.Leu2508=) c.7479G= (p.Leu2493=) n.380G= n.7731G= c.7632G= (p.Leu2544=) c.6537G= (p.Leu2179=) c.2721G= (p.Leu907=) c.2274G= (p.Leu758=) c.1611G= (p.Leu537=) c.6126G= (p.Leu2042=) n.7649G= | |
| 5 | g.13810144C>G | CA3203079 | DNAH5 | c.7524G>C (p.Leu2508=) c.7479G>C (p.Leu2493=) n.380G>C n.7731G>C c.7632G>C (p.Leu2544=) c.6537G>C (p.Leu2179=) c.2721G>C (p.Leu907=) c.2274G>C (p.Leu758=) c.1611G>C (p.Leu537=) c.6126G>C (p.Leu2042=) n.7649G>C | ClinVar dbSNP ExAC gnomAD v2 |
| 5 | g.13810144C>T | CA443272614 | DNAH5 | c.7524G>A (p.Leu2508=) c.7479G>A (p.Leu2493=) n.380G>A n.7731G>A c.7632G>A (p.Leu2544=) c.6537G>A (p.Leu2179=) c.2721G>A (p.Leu907=) c.2274G>A (p.Leu758=) c.1611G>A (p.Leu537=) c.6126G>A (p.Leu2042=) n.7649G>A | |
| 5 | g.13810145A= | CA1528448925 | DNAH5 | c.7523T= (p.Leu2508=) c.7478T= (p.Leu2493=) n.379T= n.7730T= c.7631T= (p.Leu2544=) c.6536T= (p.Leu2179=) c.2720T= (p.Leu907=) c.2273T= (p.Leu758=) c.1610T= (p.Leu537=) c.6125T= (p.Leu2042=) n.7648T= | |
| 5 | g.13810145A>C | CA359231896 | DNAH5 | c.7523T>G (p.Leu2508Arg) c.7478T>G (p.Leu2493Arg) n.379T>G n.7730T>G c.7631T>G (p.Leu2544Arg) c.6536T>G (p.Leu2179Arg) c.2720T>G (p.Leu907Arg) c.2273T>G (p.Leu758Arg) c.1610T>G (p.Leu537Arg) c.6125T>G (p.Leu2042Arg) n.7648T>G | |
| 5 | g.13810145A>G | CA359231898 | DNAH5 | c.7523T>C (p.Leu2508Pro) c.7478T>C (p.Leu2493Pro) n.379T>C n.7730T>C c.7631T>C (p.Leu2544Pro) c.6536T>C (p.Leu2179Pro) c.2720T>C (p.Leu907Pro) c.2273T>C (p.Leu758Pro) c.1610T>C (p.Leu537Pro) c.6125T>C (p.Leu2042Pro) n.7648T>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13810145A>T | CA359231900 | DNAH5 | c.7523T>A (p.Leu2508Gln) c.7478T>A (p.Leu2493Gln) n.379T>A n.7730T>A c.7631T>A (p.Leu2544Gln) c.6536T>A (p.Leu2179Gln) c.2720T>A (p.Leu907Gln) c.2273T>A (p.Leu758Gln) c.1610T>A (p.Leu537Gln) c.6125T>A (p.Leu2042Gln) n.7648T>A | |
| 5 | g.13810146G>A | CA443272615 | DNAH5 | c.7522C>T (p.Leu2508=) c.7477C>T (p.Leu2493=) n.378C>T n.7729C>T c.7630C>T (p.Leu2544=) c.6535C>T (p.Leu2179=) c.2719C>T (p.Leu907=) c.2272C>T (p.Leu758=) c.1609C>T (p.Leu537=) c.6124C>T (p.Leu2042=) n.7647C>T | |
| 5 | g.13810146G>C | CA359231902 | DNAH5 | c.7522C>G (p.Leu2508Val) c.7477C>G (p.Leu2493Val) n.378C>G n.7729C>G c.7630C>G (p.Leu2544Val) c.6535C>G (p.Leu2179Val) c.2719C>G (p.Leu907Val) c.2272C>G (p.Leu758Val) c.1609C>G (p.Leu537Val) c.6124C>G (p.Leu2042Val) n.7647C>G | |
| 5 | g.13810146G>T | CA359231903 | DNAH5 | c.7522C>A (p.Leu2508Met) c.7477C>A (p.Leu2493Met) n.378C>A n.7729C>A c.7630C>A (p.Leu2544Met) c.6535C>A (p.Leu2179Met) c.2719C>A (p.Leu907Met) c.2272C>A (p.Leu758Met) c.1609C>A (p.Leu537Met) c.6124C>A (p.Leu2042Met) n.7647C>A | COSMIC |
| 5 | g.13810147C>A | CA359231909 | DNAH5 | c.7521G>T (p.Trp2507Cys) c.7476G>T (p.Trp2492Cys) n.377G>T n.7728G>T c.7629G>T (p.Trp2543Cys) c.6534G>T (p.Trp2178Cys) c.2718G>T (p.Trp906Cys) c.2271G>T (p.Trp757Cys) c.1608G>T (p.Trp536Cys) c.6123G>T (p.Trp2041Cys) n.7646G>T | |
| 5 | g.13810147C>G | CA359231905 | DNAH5 | c.7521G>C (p.Trp2507Cys) c.7476G>C (p.Trp2492Cys) n.377G>C n.7728G>C c.7629G>C (p.Trp2543Cys) c.6534G>C (p.Trp2178Cys) c.2718G>C (p.Trp906Cys) c.2271G>C (p.Trp757Cys) c.1608G>C (p.Trp536Cys) c.6123G>C (p.Trp2041Cys) n.7646G>C | |
| 5 | g.13810147C>T | CA359231908 | DNAH5 | c.7521G>A (p.Trp2507Ter) c.7476G>A (p.Trp2492Ter) n.377G>A n.7728G>A c.7629G>A (p.Trp2543Ter) c.6534G>A (p.Trp2178Ter) c.2718G>A (p.Trp906Ter) c.2271G>A (p.Trp757Ter) c.1608G>A (p.Trp536Ter) c.6123G>A (p.Trp2041Ter) n.7646G>A | |
| 5 | g.13810148dup | CA2673271827 | DNAH5 | c.7521dup (p.Leu2508AlafsTer?) c.7476dup (p.Leu2493AlafsTer?) n.377dup n.7728dup c.7629dup (p.Leu2544AlafsTer?) c.6534dup (p.Leu2179AlafsTer?) c.2718dup (p.Leu907AlafsTer?) c.2271dup (p.Leu758AlafsTer?) c.1608dup (p.Leu537AlafsTer?) c.6123dup (p.Leu2042AlafsTer?) n.7646dup | gnomAD v4 |
| 5 | g.13810148del | CA2580072024 | DNAH5 | c.7521del (p.Trp2507CysfsTer?) c.7476del (p.Trp2492CysfsTer?) n.377del n.7728del c.7629del (p.Trp2543CysfsTer?) c.6534del (p.Trp2178CysfsTer?) c.2718del (p.Trp906CysfsTer?) c.2271del (p.Trp757CysfsTer?) c.1608del (p.Trp536CysfsTer?) c.6123del (p.Trp2041CysfsTer?) n.7646del | ClinVar |