UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13776461C>A | CA359207934 | DNAH5 | c.9351G>T (p.Trp3117Cys) c.9306G>T (p.Trp3102Cys) c.9459G>T (p.Trp3153Cys) c.8364G>T (p.Trp2788Cys) c.4548G>T (p.Trp1516Cys) c.4101G>T (p.Trp1367Cys) c.3438G>T (p.Trp1146Cys) c.7953G>T (p.Trp2651Cys) | |
| 5 | g.13776461C>G | CA359207936 | DNAH5 | c.9351G>C (p.Trp3117Cys) c.9306G>C (p.Trp3102Cys) c.9459G>C (p.Trp3153Cys) c.8364G>C (p.Trp2788Cys) c.4548G>C (p.Trp1516Cys) c.4101G>C (p.Trp1367Cys) c.3438G>C (p.Trp1146Cys) c.7953G>C (p.Trp2651Cys) | |
| 5 | g.13776461C>T | CA359207940 | DNAH5 | c.9351G>A (p.Trp3117Ter) c.9306G>A (p.Trp3102Ter) c.9459G>A (p.Trp3153Ter) c.8364G>A (p.Trp2788Ter) c.4548G>A (p.Trp1516Ter) c.4101G>A (p.Trp1367Ter) c.3438G>A (p.Trp1146Ter) c.7953G>A (p.Trp2651Ter) | gnomAD v4 |
| 5 | g.13776462C>A | CA359207943 | DNAH5 | c.9350G>T (p.Trp3117Leu) c.9305G>T (p.Trp3102Leu) c.9458G>T (p.Trp3153Leu) c.8363G>T (p.Trp2788Leu) c.4547G>T (p.Trp1516Leu) c.4100G>T (p.Trp1367Leu) c.3437G>T (p.Trp1146Leu) c.7952G>T (p.Trp2651Leu) | |
| 5 | g.13776462C>G | CA359207946 | DNAH5 | c.9350G>C (p.Trp3117Ser) c.9305G>C (p.Trp3102Ser) c.9458G>C (p.Trp3153Ser) c.8363G>C (p.Trp2788Ser) c.4547G>C (p.Trp1516Ser) c.4100G>C (p.Trp1367Ser) c.3437G>C (p.Trp1146Ser) c.7952G>C (p.Trp2651Ser) | |
| 5 | g.13776462C>T | CA359207950 | DNAH5 | c.9350G>A (p.Trp3117Ter) c.9305G>A (p.Trp3102Ter) c.9458G>A (p.Trp3153Ter) c.8363G>A (p.Trp2788Ter) c.4547G>A (p.Trp1516Ter) c.4100G>A (p.Trp1367Ter) c.3437G>A (p.Trp1146Ter) c.7952G>A (p.Trp2651Ter) | |
| 5 | g.13776463A= | CA1528435042 | DNAH5 | c.9349T= (p.Trp3117=) c.9304T= (p.Trp3102=) c.9457T= (p.Trp3153=) c.8362T= (p.Trp2788=) c.4546T= (p.Trp1516=) c.4099T= (p.Trp1367=) c.3436T= (p.Trp1146=) c.7951T= (p.Trp2651=) | |
| 5 | g.13776463A>C | CA359207952 | DNAH5 | c.9349T>G (p.Trp3117Gly) c.9304T>G (p.Trp3102Gly) c.9457T>G (p.Trp3153Gly) c.8362T>G (p.Trp2788Gly) c.4546T>G (p.Trp1516Gly) c.4099T>G (p.Trp1367Gly) c.3436T>G (p.Trp1146Gly) c.7951T>G (p.Trp2651Gly) | |
| 5 | g.13776463A>G | CA3202577 | DNAH5 | c.9349T>C (p.Trp3117Arg) c.9304T>C (p.Trp3102Arg) c.9457T>C (p.Trp3153Arg) c.8362T>C (p.Trp2788Arg) c.4546T>C (p.Trp1516Arg) c.4099T>C (p.Trp1367Arg) c.3436T>C (p.Trp1146Arg) c.7951T>C (p.Trp2651Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13776463A>T | CA359207954 | DNAH5 | c.9349T>A (p.Trp3117Arg) c.9304T>A (p.Trp3102Arg) c.9457T>A (p.Trp3153Arg) c.8362T>A (p.Trp2788Arg) c.4546T>A (p.Trp1516Arg) c.4099T>A (p.Trp1367Arg) c.3436T>A (p.Trp1146Arg) c.7951T>A (p.Trp2651Arg) | |
| 5 | g.13776464T>A | CA443535675 | DNAH5 | c.9348A>T (p.Arg3116=) c.9303A>T (p.Arg3101=) c.9456A>T (p.Arg3152=) c.8361A>T (p.Arg2787=) c.4545A>T (p.Arg1515=) c.4098A>T (p.Arg1366=) c.3435A>T (p.Arg1145=) c.7950A>T (p.Arg2650=) | |
| 5 | g.13776464T>C | CA443535677 | DNAH5 | c.9348A>G (p.Arg3116=) c.9303A>G (p.Arg3101=) c.9456A>G (p.Arg3152=) c.8361A>G (p.Arg2787=) c.4545A>G (p.Arg1515=) c.4098A>G (p.Arg1366=) c.3435A>G (p.Arg1145=) c.7950A>G (p.Arg2650=) | |
| 5 | g.13776464T>G | CA443535676 | DNAH5 | c.9348A>C (p.Arg3116=) c.9303A>C (p.Arg3101=) c.9456A>C (p.Arg3152=) c.8361A>C (p.Arg2787=) c.4545A>C (p.Arg1515=) c.4098A>C (p.Arg1366=) c.3435A>C (p.Arg1145=) c.7950A>C (p.Arg2650=) | |
| 5 | g.13776465C>A | CA359207957 | DNAH5 | c.9347G>T (p.Arg3116Leu) c.9302G>T (p.Arg3101Leu) c.9455G>T (p.Arg3152Leu) c.8360G>T (p.Arg2787Leu) c.4544G>T (p.Arg1515Leu) c.4097G>T (p.Arg1366Leu) c.3434G>T (p.Arg1145Leu) c.7949G>T (p.Arg2650Leu) | gnomAD v4 |
| 5 | g.13776465C= | CA1528435050 | DNAH5 | c.9347G= (p.Arg3116=) c.9302G= (p.Arg3101=) c.9455G= (p.Arg3152=) c.8360G= (p.Arg2787=) c.4544G= (p.Arg1515=) c.4097G= (p.Arg1366=) c.3434G= (p.Arg1145=) c.7949G= (p.Arg2650=) | |
| 5 | g.13776465C>G | CA359207959 | DNAH5 | c.9347G>C (p.Arg3116Pro) c.9302G>C (p.Arg3101Pro) c.9455G>C (p.Arg3152Pro) c.8360G>C (p.Arg2787Pro) c.4544G>C (p.Arg1515Pro) c.4097G>C (p.Arg1366Pro) c.3434G>C (p.Arg1145Pro) c.7949G>C (p.Arg2650Pro) | |
| 5 | g.13776465C>T | CA3202578 | DNAH5 | c.9347G>A (p.Arg3116Gln) c.9302G>A (p.Arg3101Gln) c.9455G>A (p.Arg3152Gln) c.8360G>A (p.Arg2787Gln) c.4544G>A (p.Arg1515Gln) c.4097G>A (p.Arg1366Gln) c.3434G>A (p.Arg1145Gln) c.7949G>A (p.Arg2650Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13776466G>A | CA359207968 | DNAH5 | c.9346C>T (p.Arg3116Ter) c.9301C>T (p.Arg3101Ter) c.9454C>T (p.Arg3152Ter) c.8359C>T (p.Arg2787Ter) c.4543C>T (p.Arg1515Ter) c.4096C>T (p.Arg1366Ter) c.3433C>T (p.Arg1145Ter) c.7948C>T (p.Arg2650Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13776466G>C | CA359207966 | DNAH5 | c.9346C>G (p.Arg3116Gly) c.9301C>G (p.Arg3101Gly) c.9454C>G (p.Arg3152Gly) c.8359C>G (p.Arg2787Gly) c.4543C>G (p.Arg1515Gly) c.4096C>G (p.Arg1366Gly) c.3433C>G (p.Arg1145Gly) c.7948C>G (p.Arg2650Gly) | |
| 5 | g.13776466G= | CA1528435057 | DNAH5 | c.9346C= (p.Arg3116=) c.9301C= (p.Arg3101=) c.9454C= (p.Arg3152=) c.8359C= (p.Arg2787=) c.4543C= (p.Arg1515=) c.4096C= (p.Arg1366=) c.3433C= (p.Arg1145=) c.7948C= (p.Arg2650=) | |
| 5 | g.13776466G>T | CA443535679 | DNAH5 | c.9346C>A (p.Arg3116=) c.9301C>A (p.Arg3101=) c.9454C>A (p.Arg3152=) c.8359C>A (p.Arg2787=) c.4543C>A (p.Arg1515=) c.4096C>A (p.Arg1366=) c.3433C>A (p.Arg1145=) c.7948C>A (p.Arg2650=) | |
| 5 | g.13776467G>A | CA443535681 | DNAH5 | c.9345C>T (p.Ser3115=) c.9300C>T (p.Ser3100=) c.9453C>T (p.Ser3151=) c.8358C>T (p.Ser2786=) c.4542C>T (p.Ser1514=) c.4095C>T (p.Ser1365=) c.3432C>T (p.Ser1144=) c.7947C>T (p.Ser2649=) | dbSNP |
| 5 | g.13776467G>C | CA359207971 | DNAH5 | c.9345C>G (p.Ser3115Arg) c.9300C>G (p.Ser3100Arg) c.9453C>G (p.Ser3151Arg) c.8358C>G (p.Ser2786Arg) c.4542C>G (p.Ser1514Arg) c.4095C>G (p.Ser1365Arg) c.3432C>G (p.Ser1144Arg) c.7947C>G (p.Ser2649Arg) | |
| 5 | g.13776467G= | CA1528435063 | DNAH5 | c.9345C= (p.Ser3115=) c.9300C= (p.Ser3100=) c.9453C= (p.Ser3151=) c.8358C= (p.Ser2786=) c.4542C= (p.Ser1514=) c.4095C= (p.Ser1365=) c.3432C= (p.Ser1144=) c.7947C= (p.Ser2649=) | |
| 5 | g.13776467G>T | CA359207973 | DNAH5 | c.9345C>A (p.Ser3115Arg) c.9300C>A (p.Ser3100Arg) c.9453C>A (p.Ser3151Arg) c.8358C>A (p.Ser2786Arg) c.4542C>A (p.Ser1514Arg) c.4095C>A (p.Ser1365Arg) c.3432C>A (p.Ser1144Arg) c.7947C>A (p.Ser2649Arg) | |
| 5 | g.13776468C>A | CA359207974 | DNAH5 | c.9344G>T (p.Ser3115Ile) c.9299G>T (p.Ser3100Ile) c.9452G>T (p.Ser3151Ile) c.8357G>T (p.Ser2786Ile) c.4541G>T (p.Ser1514Ile) c.4094G>T (p.Ser1365Ile) c.3431G>T (p.Ser1144Ile) c.7946G>T (p.Ser2649Ile) | |
| 5 | g.13776468C>G | CA359207975 | DNAH5 | c.9344G>C (p.Ser3115Thr) c.9299G>C (p.Ser3100Thr) c.9452G>C (p.Ser3151Thr) c.8357G>C (p.Ser2786Thr) c.4541G>C (p.Ser1514Thr) c.4094G>C (p.Ser1365Thr) c.3431G>C (p.Ser1144Thr) c.7946G>C (p.Ser2649Thr) | |
| 5 | g.13776468C>T | CA359207976 | DNAH5 | c.9344G>A (p.Ser3115Asn) c.9299G>A (p.Ser3100Asn) c.9452G>A (p.Ser3151Asn) c.8357G>A (p.Ser2786Asn) c.4541G>A (p.Ser1514Asn) c.4094G>A (p.Ser1365Asn) c.3431G>A (p.Ser1144Asn) c.7946G>A (p.Ser2649Asn) | |
| 5 | g.13776469T>A | CA359207978 | DNAH5 | c.9343A>T (p.Ser3115Cys) c.9298A>T (p.Ser3100Cys) c.9451A>T (p.Ser3151Cys) c.8356A>T (p.Ser2786Cys) c.4540A>T (p.Ser1514Cys) c.4093A>T (p.Ser1365Cys) c.3430A>T (p.Ser1144Cys) c.7945A>T (p.Ser2649Cys) | |
| 5 | g.13776469T>C | CA359207980 | DNAH5 | c.9343A>G (p.Ser3115Gly) c.9298A>G (p.Ser3100Gly) c.9451A>G (p.Ser3151Gly) c.8356A>G (p.Ser2786Gly) c.4540A>G (p.Ser1514Gly) c.4093A>G (p.Ser1365Gly) c.3430A>G (p.Ser1144Gly) c.7945A>G (p.Ser2649Gly) | COSMIC |
| 5 | g.13776469T>G | CA359207983 | DNAH5 | c.9343A>C (p.Ser3115Arg) c.9298A>C (p.Ser3100Arg) c.9451A>C (p.Ser3151Arg) c.8356A>C (p.Ser2786Arg) c.4540A>C (p.Ser1514Arg) c.4093A>C (p.Ser1365Arg) c.3430A>C (p.Ser1144Arg) c.7945A>C (p.Ser2649Arg) | |
| 5 | g.13776470G>A | CA443535684 | DNAH5 | c.9342C>T (p.Phe3114=) c.9297C>T (p.Phe3099=) c.9450C>T (p.Phe3150=) c.8355C>T (p.Phe2785=) c.4539C>T (p.Phe1513=) c.4092C>T (p.Phe1364=) c.3429C>T (p.Phe1143=) c.7944C>T (p.Phe2648=) | gnomAD v4 COSMIC |
| 5 | g.13776470G>C | CA359208013 | DNAH5 | c.9342C>G (p.Phe3114Leu) c.9297C>G (p.Phe3099Leu) c.9450C>G (p.Phe3150Leu) c.8355C>G (p.Phe2785Leu) c.4539C>G (p.Phe1513Leu) c.4092C>G (p.Phe1364Leu) c.3429C>G (p.Phe1143Leu) c.7944C>G (p.Phe2648Leu) | |
| 5 | g.13776470G>T | CA359208016 | DNAH5 | c.9342C>A (p.Phe3114Leu) c.9297C>A (p.Phe3099Leu) c.9450C>A (p.Phe3150Leu) c.8355C>A (p.Phe2785Leu) c.4539C>A (p.Phe1513Leu) c.4092C>A (p.Phe1364Leu) c.3429C>A (p.Phe1143Leu) c.7944C>A (p.Phe2648Leu) | |
| 5 | g.13776471A>C | CA359208025 | DNAH5 | c.9341T>G (p.Phe3114Cys) c.9296T>G (p.Phe3099Cys) c.9449T>G (p.Phe3150Cys) c.8354T>G (p.Phe2785Cys) c.4538T>G (p.Phe1513Cys) c.4091T>G (p.Phe1364Cys) c.3428T>G (p.Phe1143Cys) c.7943T>G (p.Phe2648Cys) | |
| 5 | g.13776471A>G | CA359208028 | DNAH5 | c.9341T>C (p.Phe3114Ser) c.9296T>C (p.Phe3099Ser) c.9449T>C (p.Phe3150Ser) c.8354T>C (p.Phe2785Ser) c.4538T>C (p.Phe1513Ser) c.4091T>C (p.Phe1364Ser) c.3428T>C (p.Phe1143Ser) c.7943T>C (p.Phe2648Ser) | |
| 5 | g.13776471A>T | CA359208032 | DNAH5 | c.9341T>A (p.Phe3114Tyr) c.9296T>A (p.Phe3099Tyr) c.9449T>A (p.Phe3150Tyr) c.8354T>A (p.Phe2785Tyr) c.4538T>A (p.Phe1513Tyr) c.4091T>A (p.Phe1364Tyr) c.3428T>A (p.Phe1143Tyr) c.7943T>A (p.Phe2648Tyr) | |
| 5 | g.13776472A>C | CA359208051 | DNAH5 | c.9340T>G (p.Phe3114Val) c.9295T>G (p.Phe3099Val) c.9448T>G (p.Phe3150Val) c.8353T>G (p.Phe2785Val) c.4537T>G (p.Phe1513Val) c.4090T>G (p.Phe1364Val) c.3427T>G (p.Phe1143Val) c.7942T>G (p.Phe2648Val) | |
| 5 | g.13776472A>G | CA359208057 | DNAH5 | c.9340T>C (p.Phe3114Leu) c.9295T>C (p.Phe3099Leu) c.9448T>C (p.Phe3150Leu) c.8353T>C (p.Phe2785Leu) c.4537T>C (p.Phe1513Leu) c.4090T>C (p.Phe1364Leu) c.3427T>C (p.Phe1143Leu) c.7942T>C (p.Phe2648Leu) | |
| 5 | g.13776472A>T | CA359208047 | DNAH5 | c.9340T>A (p.Phe3114Ile) c.9295T>A (p.Phe3099Ile) c.9448T>A (p.Phe3150Ile) c.8353T>A (p.Phe2785Ile) c.4537T>A (p.Phe1513Ile) c.4090T>A (p.Phe1364Ile) c.3427T>A (p.Phe1143Ile) c.7942T>A (p.Phe2648Ile) | |
| 5 | g.13776473C>A | CA359208064 | DNAH5 | c.9339G>T (p.Trp3113Cys) c.9294G>T (p.Trp3098Cys) c.9447G>T (p.Trp3149Cys) c.8352G>T (p.Trp2784Cys) c.4536G>T (p.Trp1512Cys) c.4089G>T (p.Trp1363Cys) c.3426G>T (p.Trp1142Cys) c.7941G>T (p.Trp2647Cys) | |
| 5 | g.13776473C= | CA1528435067 | DNAH5 | c.9339G= (p.Trp3113=) c.9294G= (p.Trp3098=) c.9447G= (p.Trp3149=) c.8352G= (p.Trp2784=) c.4536G= (p.Trp1512=) c.4089G= (p.Trp1363=) c.3426G= (p.Trp1142=) c.7941G= (p.Trp2647=) | |
| 5 | g.13776473C>G | CA3202579 | DNAH5 | c.9339G>C (p.Trp3113Cys) c.9294G>C (p.Trp3098Cys) c.9447G>C (p.Trp3149Cys) c.8352G>C (p.Trp2784Cys) c.4536G>C (p.Trp1512Cys) c.4089G>C (p.Trp1363Cys) c.3426G>C (p.Trp1142Cys) c.7941G>C (p.Trp2647Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13776473C>T | CA359208066 | DNAH5 | c.9339G>A (p.Trp3113Ter) c.9294G>A (p.Trp3098Ter) c.9447G>A (p.Trp3149Ter) c.8352G>A (p.Trp2784Ter) c.4536G>A (p.Trp1512Ter) c.4089G>A (p.Trp1363Ter) c.3426G>A (p.Trp1142Ter) c.7941G>A (p.Trp2647Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13776474C>A | CA359208070 | DNAH5 | c.9338G>T (p.Trp3113Leu) c.9293G>T (p.Trp3098Leu) c.9446G>T (p.Trp3149Leu) c.8351G>T (p.Trp2784Leu) c.4535G>T (p.Trp1512Leu) c.4088G>T (p.Trp1363Leu) c.3425G>T (p.Trp1142Leu) c.7940G>T (p.Trp2647Leu) | |
| 5 | g.13776474C>G | CA359208073 | DNAH5 | c.9338G>C (p.Trp3113Ser) c.9293G>C (p.Trp3098Ser) c.9446G>C (p.Trp3149Ser) c.8351G>C (p.Trp2784Ser) c.4535G>C (p.Trp1512Ser) c.4088G>C (p.Trp1363Ser) c.3425G>C (p.Trp1142Ser) c.7940G>C (p.Trp2647Ser) | |
| 5 | g.13776474C>T | CA359208077 | DNAH5 | c.9338G>A (p.Trp3113Ter) c.9293G>A (p.Trp3098Ter) c.9446G>A (p.Trp3149Ter) c.8351G>A (p.Trp2784Ter) c.4535G>A (p.Trp1512Ter) c.4088G>A (p.Trp1363Ter) c.3425G>A (p.Trp1142Ter) c.7940G>A (p.Trp2647Ter) | |
| 5 | g.13776475A>C | CA359208078 | DNAH5 | c.9337T>G (p.Trp3113Gly) c.9292T>G (p.Trp3098Gly) c.9445T>G (p.Trp3149Gly) c.8350T>G (p.Trp2784Gly) c.4534T>G (p.Trp1512Gly) c.4087T>G (p.Trp1363Gly) c.3424T>G (p.Trp1142Gly) c.7939T>G (p.Trp2647Gly) | |
| 5 | g.13776475A>G | CA359208082 | DNAH5 | c.9337T>C (p.Trp3113Arg) c.9292T>C (p.Trp3098Arg) c.9445T>C (p.Trp3149Arg) c.8350T>C (p.Trp2784Arg) c.4534T>C (p.Trp1512Arg) c.4087T>C (p.Trp1363Arg) c.3424T>C (p.Trp1142Arg) c.7939T>C (p.Trp2647Arg) | |
| 5 | g.13776475A>T | CA359208089 | DNAH5 | c.9337T>A (p.Trp3113Arg) c.9292T>A (p.Trp3098Arg) c.9445T>A (p.Trp3149Arg) c.8350T>A (p.Trp2784Arg) c.4534T>A (p.Trp1512Arg) c.4087T>A (p.Trp1363Arg) c.3424T>A (p.Trp1142Arg) c.7939T>A (p.Trp2647Arg) | |
| 5 | g.13776476G>A | CA443535695 | DNAH5 | c.9336C>T (p.Asp3112=) c.9291C>T (p.Asp3097=) c.9444C>T (p.Asp3148=) c.8349C>T (p.Asp2783=) c.4533C>T (p.Asp1511=) c.4086C>T (p.Asp1362=) c.3423C>T (p.Asp1141=) c.7938C>T (p.Asp2646=) | |
| 5 | g.13776476G>C | CA359208094 | DNAH5 | c.9336C>G (p.Asp3112Glu) c.9291C>G (p.Asp3097Glu) c.9444C>G (p.Asp3148Glu) c.8349C>G (p.Asp2783Glu) c.4533C>G (p.Asp1511Glu) c.4086C>G (p.Asp1362Glu) c.3423C>G (p.Asp1141Glu) c.7938C>G (p.Asp2646Glu) | |
| 5 | g.13776476G>T | CA359208095 | DNAH5 | c.9336C>A (p.Asp3112Glu) c.9291C>A (p.Asp3097Glu) c.9444C>A (p.Asp3148Glu) c.8349C>A (p.Asp2783Glu) c.4533C>A (p.Asp1511Glu) c.4086C>A (p.Asp1362Glu) c.3423C>A (p.Asp1141Glu) c.7938C>A (p.Asp2646Glu) | |
| 5 | g.13776477T>A | CA359208098 | DNAH5 | c.9335A>T (p.Asp3112Val) c.9290A>T (p.Asp3097Val) c.9443A>T (p.Asp3148Val) c.8348A>T (p.Asp2783Val) c.4532A>T (p.Asp1511Val) c.4085A>T (p.Asp1362Val) c.3422A>T (p.Asp1141Val) c.7937A>T (p.Asp2646Val) | |
| 5 | g.13776477T>C | CA359208100 | DNAH5 | c.9335A>G (p.Asp3112Gly) c.9290A>G (p.Asp3097Gly) c.9443A>G (p.Asp3148Gly) c.8348A>G (p.Asp2783Gly) c.4532A>G (p.Asp1511Gly) c.4085A>G (p.Asp1362Gly) c.3422A>G (p.Asp1141Gly) c.7937A>G (p.Asp2646Gly) | |
| 5 | g.13776477T>G | CA359208101 | DNAH5 | c.9335A>C (p.Asp3112Ala) c.9290A>C (p.Asp3097Ala) c.9443A>C (p.Asp3148Ala) c.8348A>C (p.Asp2783Ala) c.4532A>C (p.Asp1511Ala) c.4085A>C (p.Asp1362Ala) c.3422A>C (p.Asp1141Ala) c.7937A>C (p.Asp2646Ala) | |
| 5 | g.13776478C>A | CA359208108 | DNAH5 | c.9334G>T (p.Asp3112Tyr) c.9289G>T (p.Asp3097Tyr) c.9442G>T (p.Asp3148Tyr) c.8347G>T (p.Asp2783Tyr) c.4531G>T (p.Asp1511Tyr) c.4084G>T (p.Asp1362Tyr) c.3421G>T (p.Asp1141Tyr) c.7936G>T (p.Asp2646Tyr) | gnomAD v4 |
| 5 | g.13776478C>G | CA359208105 | DNAH5 | c.9334G>C (p.Asp3112His) c.9289G>C (p.Asp3097His) c.9442G>C (p.Asp3148His) c.8347G>C (p.Asp2783His) c.4531G>C (p.Asp1511His) c.4084G>C (p.Asp1362His) c.3421G>C (p.Asp1141His) c.7936G>C (p.Asp2646His) | gnomAD v4 |
| 5 | g.13776478C>T | CA359208103 | DNAH5 | c.9334G>A (p.Asp3112Asn) c.9289G>A (p.Asp3097Asn) c.9442G>A (p.Asp3148Asn) c.8347G>A (p.Asp2783Asn) c.4531G>A (p.Asp1511Asn) c.4084G>A (p.Asp1362Asn) c.3421G>A (p.Asp1141Asn) c.7936G>A (p.Asp2646Asn) | |
| 5 | g.13776479A>C | CA359208111 | DNAH5 | c.9333T>G (p.Ile3111Met) c.9288T>G (p.Ile3096Met) c.9441T>G (p.Ile3147Met) c.8346T>G (p.Ile2782Met) c.4530T>G (p.Ile1510Met) c.4083T>G (p.Ile1361Met) c.3420T>G (p.Ile1140Met) c.7935T>G (p.Ile2645Met) | |
| 5 | g.13776479A>G | CA443535698 | DNAH5 | c.9333T>C (p.Ile3111=) c.9288T>C (p.Ile3096=) c.9441T>C (p.Ile3147=) c.8346T>C (p.Ile2782=) c.4530T>C (p.Ile1510=) c.4083T>C (p.Ile1361=) c.3420T>C (p.Ile1140=) c.7935T>C (p.Ile2645=) | |
| 5 | g.13776479A>T | CA443535699 | DNAH5 | c.9333T>A (p.Ile3111=) c.9288T>A (p.Ile3096=) c.9441T>A (p.Ile3147=) c.8346T>A (p.Ile2782=) c.4530T>A (p.Ile1510=) c.4083T>A (p.Ile1361=) c.3420T>A (p.Ile1140=) c.7935T>A (p.Ile2645=) | |
| 5 | g.13776480A= | CA1528435071 | DNAH5 | c.9332T= (p.Ile3111=) c.9287T= (p.Ile3096=) c.9440T= (p.Ile3147=) c.8345T= (p.Ile2782=) c.4529T= (p.Ile1510=) c.4082T= (p.Ile1361=) c.3419T= (p.Ile1140=) c.7934T= (p.Ile2645=) | |
| 5 | g.13776480A>C | CA359208117 | DNAH5 | c.9332T>G (p.Ile3111Ser) c.9287T>G (p.Ile3096Ser) c.9440T>G (p.Ile3147Ser) c.8345T>G (p.Ile2782Ser) c.4529T>G (p.Ile1510Ser) c.4082T>G (p.Ile1361Ser) c.3419T>G (p.Ile1140Ser) c.7934T>G (p.Ile2645Ser) | |
| 5 | g.13776480A>G | CA3202580 | DNAH5 | c.9332T>C (p.Ile3111Thr) c.9287T>C (p.Ile3096Thr) c.9440T>C (p.Ile3147Thr) c.8345T>C (p.Ile2782Thr) c.4529T>C (p.Ile1510Thr) c.4082T>C (p.Ile1361Thr) c.3419T>C (p.Ile1140Thr) c.7934T>C (p.Ile2645Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.13776480A>T | CA359208129 | DNAH5 | c.9332T>A (p.Ile3111Asn) c.9287T>A (p.Ile3096Asn) c.9440T>A (p.Ile3147Asn) c.8345T>A (p.Ile2782Asn) c.4529T>A (p.Ile1510Asn) c.4082T>A (p.Ile1361Asn) c.3419T>A (p.Ile1140Asn) c.7934T>A (p.Ile2645Asn) | |
| 5 | g.13776481T>A | CA359208130 | DNAH5 | c.9331A>T (p.Ile3111Phe) c.9286A>T (p.Ile3096Phe) c.9439A>T (p.Ile3147Phe) c.8344A>T (p.Ile2782Phe) c.4528A>T (p.Ile1510Phe) c.4081A>T (p.Ile1361Phe) c.3418A>T (p.Ile1140Phe) c.7933A>T (p.Ile2645Phe) | |
| 5 | g.13776481T>C | CA359208131 | DNAH5 | c.9331A>G (p.Ile3111Val) c.9286A>G (p.Ile3096Val) c.9439A>G (p.Ile3147Val) c.8344A>G (p.Ile2782Val) c.4528A>G (p.Ile1510Val) c.4081A>G (p.Ile1361Val) c.3418A>G (p.Ile1140Val) c.7933A>G (p.Ile2645Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13776481T>G | CA359208132 | DNAH5 | c.9331A>C (p.Ile3111Leu) c.9286A>C (p.Ile3096Leu) c.9439A>C (p.Ile3147Leu) c.8344A>C (p.Ile2782Leu) c.4528A>C (p.Ile1510Leu) c.4081A>C (p.Ile1361Leu) c.3418A>C (p.Ile1140Leu) c.7933A>C (p.Ile2645Leu) | |
| 5 | g.13776481T= | CA1528435077 | DNAH5 | c.9331A= (p.Ile3111=) c.9286A= (p.Ile3096=) c.9439A= (p.Ile3147=) c.8344A= (p.Ile2782=) c.4528A= (p.Ile1510=) c.4081A= (p.Ile1361=) c.3418A= (p.Ile1140=) c.7933A= (p.Ile2645=) | |
| 5 | g.13776482T>A | CA443535704 | DNAH5 | c.9330A>T (p.Thr3110=) c.9285A>T (p.Thr3095=) c.9438A>T (p.Thr3146=) c.8343A>T (p.Thr2781=) c.4527A>T (p.Thr1509=) c.4080A>T (p.Thr1360=) c.3417A>T (p.Thr1139=) c.7932A>T (p.Thr2644=) | ClinVar |
| 5 | g.13776482T>C | CA443535705 | DNAH5 | c.9330A>G (p.Thr3110=) c.9285A>G (p.Thr3095=) c.9438A>G (p.Thr3146=) c.8343A>G (p.Thr2781=) c.4527A>G (p.Thr1509=) c.4080A>G (p.Thr1360=) c.3417A>G (p.Thr1139=) c.7932A>G (p.Thr2644=) | |
| 5 | g.13776482T>G | CA443535706 | DNAH5 | c.9330A>C (p.Thr3110=) c.9285A>C (p.Thr3095=) c.9438A>C (p.Thr3146=) c.8343A>C (p.Thr2781=) c.4527A>C (p.Thr1509=) c.4080A>C (p.Thr1360=) c.3417A>C (p.Thr1139=) c.7932A>C (p.Thr2644=) | |
| 5 | g.13776483G>A | CA359208133 | DNAH5 | c.9329C>T (p.Thr3110Ile) c.9284C>T (p.Thr3095Ile) c.9437C>T (p.Thr3146Ile) c.8342C>T (p.Thr2781Ile) c.4526C>T (p.Thr1509Ile) c.4079C>T (p.Thr1360Ile) c.3416C>T (p.Thr1139Ile) c.7931C>T (p.Thr2644Ile) | |
| 5 | g.13776483G>C | CA359208135 | DNAH5 | c.9329C>G (p.Thr3110Arg) c.9284C>G (p.Thr3095Arg) c.9437C>G (p.Thr3146Arg) c.8342C>G (p.Thr2781Arg) c.4526C>G (p.Thr1509Arg) c.4079C>G (p.Thr1360Arg) c.3416C>G (p.Thr1139Arg) c.7931C>G (p.Thr2644Arg) | |
| 5 | g.13776483G>T | CA359208138 | DNAH5 | c.9329C>A (p.Thr3110Lys) c.9284C>A (p.Thr3095Lys) c.9437C>A (p.Thr3146Lys) c.8342C>A (p.Thr2781Lys) c.4526C>A (p.Thr1509Lys) c.4079C>A (p.Thr1360Lys) c.3416C>A (p.Thr1139Lys) c.7931C>A (p.Thr2644Lys) | |
| 5 | g.13776484T>A | CA359208141 | DNAH5 | c.9328A>T (p.Thr3110Ser) c.9283A>T (p.Thr3095Ser) c.9436A>T (p.Thr3146Ser) c.8341A>T (p.Thr2781Ser) c.4525A>T (p.Thr1509Ser) c.4078A>T (p.Thr1360Ser) c.3415A>T (p.Thr1139Ser) c.7930A>T (p.Thr2644Ser) | |
| 5 | g.13776484T>C | CA359208145 | DNAH5 | c.9328A>G (p.Thr3110Ala) c.9283A>G (p.Thr3095Ala) c.9436A>G (p.Thr3146Ala) c.8341A>G (p.Thr2781Ala) c.4525A>G (p.Thr1509Ala) c.4078A>G (p.Thr1360Ala) c.3415A>G (p.Thr1139Ala) c.7930A>G (p.Thr2644Ala) | gnomAD v4 |
| 5 | g.13776484T>G | CA359208148 | DNAH5 | c.9328A>C (p.Thr3110Pro) c.9283A>C (p.Thr3095Pro) c.9436A>C (p.Thr3146Pro) c.8341A>C (p.Thr2781Pro) c.4525A>C (p.Thr1509Pro) c.4078A>C (p.Thr1360Pro) c.3415A>C (p.Thr1139Pro) c.7930A>C (p.Thr2644Pro) | |
| 5 | g.13776485G>A | CA443535708 | DNAH5 | c.9327C>T (p.Cys3109=) c.9282C>T (p.Cys3094=) c.9435C>T (p.Cys3145=) c.8340C>T (p.Cys2780=) c.4524C>T (p.Cys1508=) c.4077C>T (p.Cys1359=) c.3414C>T (p.Cys1138=) c.7929C>T (p.Cys2643=) | |
| 5 | g.13776485G>C | CA359208155 | DNAH5 | c.9327C>G (p.Cys3109Trp) c.9282C>G (p.Cys3094Trp) c.9435C>G (p.Cys3145Trp) c.8340C>G (p.Cys2780Trp) c.4524C>G (p.Cys1508Trp) c.4077C>G (p.Cys1359Trp) c.3414C>G (p.Cys1138Trp) c.7929C>G (p.Cys2643Trp) | |
| 5 | g.13776485G>T | CA359208152 | DNAH5 | c.9327C>A (p.Cys3109Ter) c.9282C>A (p.Cys3094Ter) c.9435C>A (p.Cys3145Ter) c.8340C>A (p.Cys2780Ter) c.4524C>A (p.Cys1508Ter) c.4077C>A (p.Cys1359Ter) c.3414C>A (p.Cys1138Ter) c.7929C>A (p.Cys2643Ter) | |
| 5 | g.13776486C>A | CA359208158 | DNAH5 | c.9326G>T (p.Cys3109Phe) c.9281G>T (p.Cys3094Phe) c.9434G>T (p.Cys3145Phe) c.8339G>T (p.Cys2780Phe) c.4523G>T (p.Cys1508Phe) c.4076G>T (p.Cys1359Phe) c.3413G>T (p.Cys1138Phe) c.7928G>T (p.Cys2643Phe) | |
| 5 | g.13776486C>G | CA359208161 | DNAH5 | c.9326G>C (p.Cys3109Ser) c.9281G>C (p.Cys3094Ser) c.9434G>C (p.Cys3145Ser) c.8339G>C (p.Cys2780Ser) c.4523G>C (p.Cys1508Ser) c.4076G>C (p.Cys1359Ser) c.3413G>C (p.Cys1138Ser) c.7928G>C (p.Cys2643Ser) | |
| 5 | g.13776486C>T | CA359208163 | DNAH5 | c.9326G>A (p.Cys3109Tyr) c.9281G>A (p.Cys3094Tyr) c.9434G>A (p.Cys3145Tyr) c.8339G>A (p.Cys2780Tyr) c.4523G>A (p.Cys1508Tyr) c.4076G>A (p.Cys1359Tyr) c.3413G>A (p.Cys1138Tyr) c.7928G>A (p.Cys2643Tyr) | |
| 5 | g.13776487A>C | CA359208166 | DNAH5 | c.9325T>G (p.Cys3109Gly) c.9280T>G (p.Cys3094Gly) c.9433T>G (p.Cys3145Gly) c.8338T>G (p.Cys2780Gly) c.4522T>G (p.Cys1508Gly) c.4075T>G (p.Cys1359Gly) c.3412T>G (p.Cys1138Gly) c.7927T>G (p.Cys2643Gly) | |
| 5 | g.13776487A>G | CA359208170 | DNAH5 | c.9325T>C (p.Cys3109Arg) c.9280T>C (p.Cys3094Arg) c.9433T>C (p.Cys3145Arg) c.8338T>C (p.Cys2780Arg) c.4522T>C (p.Cys1508Arg) c.4075T>C (p.Cys1359Arg) c.3412T>C (p.Cys1138Arg) c.7927T>C (p.Cys2643Arg) | |
| 5 | g.13776487A>T | CA359208175 | DNAH5 | c.9325T>A (p.Cys3109Ser) c.9280T>A (p.Cys3094Ser) c.9433T>A (p.Cys3145Ser) c.8338T>A (p.Cys2780Ser) c.4522T>A (p.Cys1508Ser) c.4075T>A (p.Cys1359Ser) c.3412T>A (p.Cys1138Ser) c.7927T>A (p.Cys2643Ser) | |
| 5 | g.13776488T>A | CA443535717 | DNAH5 | c.9324A>T (p.Gly3108=) c.9279A>T (p.Gly3093=) c.9432A>T (p.Gly3144=) c.8337A>T (p.Gly2779=) c.4521A>T (p.Gly1507=) c.4074A>T (p.Gly1358=) c.3411A>T (p.Gly1137=) c.7926A>T (p.Gly2642=) | gnomAD v4 |
| 5 | g.13776488T>C | CA443535714 | DNAH5 | c.9324A>G (p.Gly3108=) c.9279A>G (p.Gly3093=) c.9432A>G (p.Gly3144=) c.8337A>G (p.Gly2779=) c.4521A>G (p.Gly1507=) c.4074A>G (p.Gly1358=) c.3411A>G (p.Gly1137=) c.7926A>G (p.Gly2642=) | |
| 5 | g.13776488T>G | CA443535712 | DNAH5 | c.9324A>C (p.Gly3108=) c.9279A>C (p.Gly3093=) c.9432A>C (p.Gly3144=) c.8337A>C (p.Gly2779=) c.4521A>C (p.Gly1507=) c.4074A>C (p.Gly1358=) c.3411A>C (p.Gly1137=) c.7926A>C (p.Gly2642=) | |
| 5 | g.13776489C>A | CA359208179 | DNAH5 | c.9323G>T (p.Gly3108Val) c.9278G>T (p.Gly3093Val) c.9431G>T (p.Gly3144Val) c.8336G>T (p.Gly2779Val) c.4520G>T (p.Gly1507Val) c.4073G>T (p.Gly1358Val) c.3410G>T (p.Gly1137Val) c.7925G>T (p.Gly2642Val) | |
| 5 | g.13776489C= | CA1528435080 | DNAH5 | c.9323G= (p.Gly3108=) c.9278G= (p.Gly3093=) c.9431G= (p.Gly3144=) c.8336G= (p.Gly2779=) c.4520G= (p.Gly1507=) c.4073G= (p.Gly1358=) c.3410G= (p.Gly1137=) c.7925G= (p.Gly2642=) | |
| 5 | g.13776489C>G | CA359208183 | DNAH5 | c.9323G>C (p.Gly3108Ala) c.9278G>C (p.Gly3093Ala) c.9431G>C (p.Gly3144Ala) c.8336G>C (p.Gly2779Ala) c.4520G>C (p.Gly1507Ala) c.4073G>C (p.Gly1358Ala) c.3410G>C (p.Gly1137Ala) c.7925G>C (p.Gly2642Ala) | COSMIC |
| 5 | g.13776489C>T | CA113937631 | DNAH5 | c.9323G>A (p.Gly3108Glu) c.9278G>A (p.Gly3093Glu) c.9431G>A (p.Gly3144Glu) c.8336G>A (p.Gly2779Glu) c.4520G>A (p.Gly1507Glu) c.4073G>A (p.Gly1358Glu) c.3410G>A (p.Gly1137Glu) c.7925G>A (p.Gly2642Glu) | dbSNP COSMIC |
| 5 | g.13776490C>A | CA359208187 | DNAH5 | c.9322G>T (p.Gly3108Ter) c.9277G>T (p.Gly3093Ter) c.9430G>T (p.Gly3144Ter) c.8335G>T (p.Gly2779Ter) c.4519G>T (p.Gly1507Ter) c.4072G>T (p.Gly1358Ter) c.3409G>T (p.Gly1137Ter) c.7924G>T (p.Gly2642Ter) | |
| 5 | g.13776490C= | CA1528435082 | DNAH5 | c.9322G= (p.Gly3108=) c.9277G= (p.Gly3093=) c.9430G= (p.Gly3144=) c.8335G= (p.Gly2779=) c.4519G= (p.Gly1507=) c.4072G= (p.Gly1358=) c.3409G= (p.Gly1137=) c.7924G= (p.Gly2642=) | |
| 5 | g.13776490C>G | CA3202581 | DNAH5 | c.9322G>C (p.Gly3108Arg) c.9277G>C (p.Gly3093Arg) c.9430G>C (p.Gly3144Arg) c.8335G>C (p.Gly2779Arg) c.4519G>C (p.Gly1507Arg) c.4072G>C (p.Gly1358Arg) c.3409G>C (p.Gly1137Arg) c.7924G>C (p.Gly2642Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776490C>T | CA359208188 | DNAH5 | c.9322G>A (p.Gly3108Arg) c.9277G>A (p.Gly3093Arg) c.9430G>A (p.Gly3144Arg) c.8335G>A (p.Gly2779Arg) c.4519G>A (p.Gly1507Arg) c.4072G>A (p.Gly1358Arg) c.3409G>A (p.Gly1137Arg) c.7924G>A (p.Gly2642Arg) | COSMIC |
| 5 | g.13776491T>A | CA443535725 | DNAH5 | c.9321A>T (p.Ser3107=) c.9276A>T (p.Ser3092=) c.9429A>T (p.Ser3143=) c.8334A>T (p.Ser2778=) c.4518A>T (p.Ser1506=) c.4071A>T (p.Ser1357=) c.3408A>T (p.Ser1136=) c.7923A>T (p.Ser2641=) | |
| 5 | g.13776491T>C | CA3202582 | DNAH5 | c.9321A>G (p.Ser3107=) c.9276A>G (p.Ser3092=) c.9429A>G (p.Ser3143=) c.8334A>G (p.Ser2778=) c.4518A>G (p.Ser1506=) c.4071A>G (p.Ser1357=) c.3408A>G (p.Ser1136=) c.7923A>G (p.Ser2641=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13776491T>G | CA443535729 | DNAH5 | c.9321A>C (p.Ser3107=) c.9276A>C (p.Ser3092=) c.9429A>C (p.Ser3143=) c.8334A>C (p.Ser2778=) c.4518A>C (p.Ser1506=) c.4071A>C (p.Ser1357=) c.3408A>C (p.Ser1136=) c.7923A>C (p.Ser2641=) | |
| 5 | g.13776491T= | CA1528435086 | DNAH5 | c.9321A= (p.Ser3107=) c.9276A= (p.Ser3092=) c.9429A= (p.Ser3143=) c.8334A= (p.Ser2778=) c.4518A= (p.Ser1506=) c.4071A= (p.Ser1357=) c.3408A= (p.Ser1136=) c.7923A= (p.Ser2641=) | |
| 5 | g.13776492G>A | CA359208200 | DNAH5 | c.9320C>T (p.Ser3107Leu) c.9275C>T (p.Ser3092Leu) c.9428C>T (p.Ser3143Leu) c.8333C>T (p.Ser2778Leu) c.4517C>T (p.Ser1506Leu) c.4070C>T (p.Ser1357Leu) c.3407C>T (p.Ser1136Leu) c.7922C>T (p.Ser2641Leu) | |
| 5 | g.13776492G>C | CA359208193 | DNAH5 | c.9320C>G (p.Ser3107Ter) c.9275C>G (p.Ser3092Ter) c.9428C>G (p.Ser3143Ter) c.8333C>G (p.Ser2778Ter) c.4517C>G (p.Ser1506Ter) c.4070C>G (p.Ser1357Ter) c.3407C>G (p.Ser1136Ter) c.7922C>G (p.Ser2641Ter) | |
| 5 | g.13776492G>T | CA359208197 | DNAH5 | c.9320C>A (p.Ser3107Ter) c.9275C>A (p.Ser3092Ter) c.9428C>A (p.Ser3143Ter) c.8333C>A (p.Ser2778Ter) c.4517C>A (p.Ser1506Ter) c.4070C>A (p.Ser1357Ter) c.3407C>A (p.Ser1136Ter) c.7922C>A (p.Ser2641Ter) | |
| 5 | g.13776493A>C | CA359208203 | DNAH5 | c.9319T>G (p.Ser3107Ala) c.9274T>G (p.Ser3092Ala) c.9427T>G (p.Ser3143Ala) c.8332T>G (p.Ser2778Ala) c.4516T>G (p.Ser1506Ala) c.4069T>G (p.Ser1357Ala) c.3406T>G (p.Ser1136Ala) c.7921T>G (p.Ser2641Ala) | |
| 5 | g.13776493A>G | CA359208204 | DNAH5 | c.9319T>C (p.Ser3107Pro) c.9274T>C (p.Ser3092Pro) c.9427T>C (p.Ser3143Pro) c.8332T>C (p.Ser2778Pro) c.4516T>C (p.Ser1506Pro) c.4069T>C (p.Ser1357Pro) c.3406T>C (p.Ser1136Pro) c.7921T>C (p.Ser2641Pro) | |
| 5 | g.13776493A>T | CA359208205 | DNAH5 | c.9319T>A (p.Ser3107Thr) c.9274T>A (p.Ser3092Thr) c.9427T>A (p.Ser3143Thr) c.8332T>A (p.Ser2778Thr) c.4516T>A (p.Ser1506Thr) c.4069T>A (p.Ser1357Thr) c.3406T>A (p.Ser1136Thr) c.7921T>A (p.Ser2641Thr) | |
| 5 | g.13776494A>C | CA359208206 | DNAH5 | c.9318T>G (p.Ile3106Met) c.9273T>G (p.Ile3091Met) c.9426T>G (p.Ile3142Met) c.8331T>G (p.Ile2777Met) c.4515T>G (p.Ile1505Met) c.4068T>G (p.Ile1356Met) c.3405T>G (p.Ile1135Met) c.7920T>G (p.Ile2640Met) | |
| 5 | g.13776494A>G | CA443535739 | DNAH5 | c.9318T>C (p.Ile3106=) c.9273T>C (p.Ile3091=) c.9426T>C (p.Ile3142=) c.8331T>C (p.Ile2777=) c.4515T>C (p.Ile1505=) c.4068T>C (p.Ile1356=) c.3405T>C (p.Ile1135=) c.7920T>C (p.Ile2640=) | gnomAD v4 |
| 5 | g.13776494A>T | CA443535740 | DNAH5 | c.9318T>A (p.Ile3106=) c.9273T>A (p.Ile3091=) c.9426T>A (p.Ile3142=) c.8331T>A (p.Ile2777=) c.4515T>A (p.Ile1505=) c.4068T>A (p.Ile1356=) c.3405T>A (p.Ile1135=) c.7920T>A (p.Ile2640=) | |
| 5 | g.13776495A= | CA1528435089 | DNAH5 | c.9317T= (p.Ile3106=) c.9272T= (p.Ile3091=) c.9425T= (p.Ile3142=) c.8330T= (p.Ile2777=) c.4514T= (p.Ile1505=) c.4067T= (p.Ile1356=) c.3404T= (p.Ile1135=) c.7919T= (p.Ile2640=) | |
| 5 | g.13776495A>C | CA359208207 | DNAH5 | c.9317T>G (p.Ile3106Ser) c.9272T>G (p.Ile3091Ser) c.9425T>G (p.Ile3142Ser) c.8330T>G (p.Ile2777Ser) c.4514T>G (p.Ile1505Ser) c.4067T>G (p.Ile1356Ser) c.3404T>G (p.Ile1135Ser) c.7919T>G (p.Ile2640Ser) | |
| 5 | g.13776495A>G | CA113937653 | DNAH5 | c.9317T>C (p.Ile3106Thr) c.9272T>C (p.Ile3091Thr) c.9425T>C (p.Ile3142Thr) c.8330T>C (p.Ile2777Thr) c.4514T>C (p.Ile1505Thr) c.4067T>C (p.Ile1356Thr) c.3404T>C (p.Ile1135Thr) c.7919T>C (p.Ile2640Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776495A>T | CA359208208 | DNAH5 | c.9317T>A (p.Ile3106Asn) c.9272T>A (p.Ile3091Asn) c.9425T>A (p.Ile3142Asn) c.8330T>A (p.Ile2777Asn) c.4514T>A (p.Ile1505Asn) c.4067T>A (p.Ile1356Asn) c.3404T>A (p.Ile1135Asn) c.7919T>A (p.Ile2640Asn) | |
| 5 | g.13776496T>A | CA359208210 | DNAH5 | c.9316A>T (p.Ile3106Phe) c.9271A>T (p.Ile3091Phe) c.9424A>T (p.Ile3142Phe) c.8329A>T (p.Ile2777Phe) c.4513A>T (p.Ile1505Phe) c.4066A>T (p.Ile1356Phe) c.3403A>T (p.Ile1135Phe) c.7918A>T (p.Ile2640Phe) | |
| 5 | g.13776496T>C | CA359208212 | DNAH5 | c.9316A>G (p.Ile3106Val) c.9271A>G (p.Ile3091Val) c.9424A>G (p.Ile3142Val) c.8329A>G (p.Ile2777Val) c.4513A>G (p.Ile1505Val) c.4066A>G (p.Ile1356Val) c.3403A>G (p.Ile1135Val) c.7918A>G (p.Ile2640Val) | dbSNP gnomAD v4 |
| 5 | g.13776496T>G | CA359208214 | DNAH5 | c.9316A>C (p.Ile3106Leu) c.9271A>C (p.Ile3091Leu) c.9424A>C (p.Ile3142Leu) c.8329A>C (p.Ile2777Leu) c.4513A>C (p.Ile1505Leu) c.4066A>C (p.Ile1356Leu) c.3403A>C (p.Ile1135Leu) c.7918A>C (p.Ile2640Leu) | |
| 5 | g.13776496T= | CA1528435094 | DNAH5 | c.9316A= (p.Ile3106=) c.9271A= (p.Ile3091=) c.9424A= (p.Ile3142=) c.8329A= (p.Ile2777=) c.4513A= (p.Ile1505=) c.4066A= (p.Ile1356=) c.3403A= (p.Ile1135=) c.7918A= (p.Ile2640=) | |
| 5 | g.13776497T>A | CA443535747 | DNAH5 | c.9315A>T (p.Leu3105=) c.9270A>T (p.Leu3090=) c.9423A>T (p.Leu3141=) c.8328A>T (p.Leu2776=) c.4512A>T (p.Leu1504=) c.4065A>T (p.Leu1355=) c.3402A>T (p.Leu1134=) c.7917A>T (p.Leu2639=) | |
| 5 | g.13776497T>C | CA443535748 | DNAH5 | c.9315A>G (p.Leu3105=) c.9270A>G (p.Leu3090=) c.9423A>G (p.Leu3141=) c.8328A>G (p.Leu2776=) c.4512A>G (p.Leu1504=) c.4065A>G (p.Leu1355=) c.3402A>G (p.Leu1134=) c.7917A>G (p.Leu2639=) | |
| 5 | g.13776497T>G | CA443535749 | DNAH5 | c.9315A>C (p.Leu3105=) c.9270A>C (p.Leu3090=) c.9423A>C (p.Leu3141=) c.8328A>C (p.Leu2776=) c.4512A>C (p.Leu1504=) c.4065A>C (p.Leu1355=) c.3402A>C (p.Leu1134=) c.7917A>C (p.Leu2639=) | ClinVar |
| 5 | g.13776498A>C | CA359208217 | DNAH5 | c.9314T>G (p.Leu3105Arg) c.9269T>G (p.Leu3090Arg) c.9422T>G (p.Leu3141Arg) c.8327T>G (p.Leu2776Arg) c.4511T>G (p.Leu1504Arg) c.4064T>G (p.Leu1355Arg) c.3401T>G (p.Leu1134Arg) c.7916T>G (p.Leu2639Arg) | |
| 5 | g.13776498A>G | CA359208219 | DNAH5 | c.9314T>C (p.Leu3105Pro) c.9269T>C (p.Leu3090Pro) c.9422T>C (p.Leu3141Pro) c.8327T>C (p.Leu2776Pro) c.4511T>C (p.Leu1504Pro) c.4064T>C (p.Leu1355Pro) c.3401T>C (p.Leu1134Pro) c.7916T>C (p.Leu2639Pro) | |
| 5 | g.13776498A>T | CA359208222 | DNAH5 | c.9314T>A (p.Leu3105Gln) c.9269T>A (p.Leu3090Gln) c.9422T>A (p.Leu3141Gln) c.8327T>A (p.Leu2776Gln) c.4511T>A (p.Leu1504Gln) c.4064T>A (p.Leu1355Gln) c.3401T>A (p.Leu1134Gln) c.7916T>A (p.Leu2639Gln) | |
| 5 | g.13776499G>A | CA443535752 | DNAH5 | c.9313C>T (p.Leu3105=) c.9268C>T (p.Leu3090=) c.9421C>T (p.Leu3141=) c.8326C>T (p.Leu2776=) c.4510C>T (p.Leu1504=) c.4063C>T (p.Leu1355=) c.3400C>T (p.Leu1134=) c.7915C>T (p.Leu2639=) | |
| 5 | g.13776499G>C | CA359208228 | DNAH5 | c.9313C>G (p.Leu3105Val) c.9268C>G (p.Leu3090Val) c.9421C>G (p.Leu3141Val) c.8326C>G (p.Leu2776Val) c.4510C>G (p.Leu1504Val) c.4063C>G (p.Leu1355Val) c.3400C>G (p.Leu1134Val) c.7915C>G (p.Leu2639Val) | |
| 5 | g.13776499G>T | CA359208224 | DNAH5 | c.9313C>A (p.Leu3105Ile) c.9268C>A (p.Leu3090Ile) c.9421C>A (p.Leu3141Ile) c.8326C>A (p.Leu2776Ile) c.4510C>A (p.Leu1504Ile) c.4063C>A (p.Leu1355Ile) c.3400C>A (p.Leu1134Ile) c.7915C>A (p.Leu2639Ile) | |
| 5 | g.13776501del | CA2673268733 | DNAH5 | c.9313del (p.Leu3105Ter) c.9268del (p.Leu3090Ter) c.9421del (p.Leu3141Ter) c.8326del (p.Leu2776Ter) c.4510del (p.Leu1504Ter) c.4063del (p.Leu1355Ter) c.3400del (p.Leu1134Ter) c.7915del (p.Leu2639Ter) | gnomAD v4 |
| 5 | g.13776500G>A | CA443535757 | DNAH5 | c.9312C>T (p.Ala3104=) c.9267C>T (p.Ala3089=) c.9420C>T (p.Ala3140=) c.8325C>T (p.Ala2775=) c.4509C>T (p.Ala1503=) c.4062C>T (p.Ala1354=) c.3399C>T (p.Ala1133=) c.7914C>T (p.Ala2638=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13776500G>C | CA443535758 | DNAH5 | c.9312C>G (p.Ala3104=) c.9267C>G (p.Ala3089=) c.9420C>G (p.Ala3140=) c.8325C>G (p.Ala2775=) c.4509C>G (p.Ala1503=) c.4062C>G (p.Ala1354=) c.3399C>G (p.Ala1133=) c.7914C>G (p.Ala2638=) | ClinVar |
| 5 | g.13776500G= | CA1528435097 | DNAH5 | c.9312C= (p.Ala3104=) c.9267C= (p.Ala3089=) c.9420C= (p.Ala3140=) c.8325C= (p.Ala2775=) c.4509C= (p.Ala1503=) c.4062C= (p.Ala1354=) c.3399C= (p.Ala1133=) c.7914C= (p.Ala2638=) | |
| 5 | g.13776500G>T | CA443535759 | DNAH5 | c.9312C>A (p.Ala3104=) c.9267C>A (p.Ala3089=) c.9420C>A (p.Ala3140=) c.8325C>A (p.Ala2775=) c.4509C>A (p.Ala1503=) c.4062C>A (p.Ala1354=) c.3399C>A (p.Ala1133=) c.7914C>A (p.Ala2638=) | |
| 5 | g.13776501G>A | CA359208230 | DNAH5 | c.9311C>T (p.Ala3104Val) c.9266C>T (p.Ala3089Val) c.9419C>T (p.Ala3140Val) c.8324C>T (p.Ala2775Val) c.4508C>T (p.Ala1503Val) c.4061C>T (p.Ala1354Val) c.3398C>T (p.Ala1133Val) c.7913C>T (p.Ala2638Val) | |
| 5 | g.13776501G>C | CA359208232 | DNAH5 | c.9311C>G (p.Ala3104Gly) c.9266C>G (p.Ala3089Gly) c.9419C>G (p.Ala3140Gly) c.8324C>G (p.Ala2775Gly) c.4508C>G (p.Ala1503Gly) c.4061C>G (p.Ala1354Gly) c.3398C>G (p.Ala1133Gly) c.7913C>G (p.Ala2638Gly) | |
| 5 | g.13776501G>T | CA359208234 | DNAH5 | c.9311C>A (p.Ala3104Asp) c.9266C>A (p.Ala3089Asp) c.9419C>A (p.Ala3140Asp) c.8324C>A (p.Ala2775Asp) c.4508C>A (p.Ala1503Asp) c.4061C>A (p.Ala1354Asp) c.3398C>A (p.Ala1133Asp) c.7913C>A (p.Ala2638Asp) | |
| 5 | g.13776502C>A | CA359208236 | DNAH5 | c.9310G>T (p.Ala3104Ser) c.9265G>T (p.Ala3089Ser) c.9418G>T (p.Ala3140Ser) c.8323G>T (p.Ala2775Ser) c.4507G>T (p.Ala1503Ser) c.4060G>T (p.Ala1354Ser) c.3397G>T (p.Ala1133Ser) c.7912G>T (p.Ala2638Ser) | |
| 5 | g.13776502C>G | CA359208238 | DNAH5 | c.9310G>C (p.Ala3104Pro) c.9265G>C (p.Ala3089Pro) c.9418G>C (p.Ala3140Pro) c.8323G>C (p.Ala2775Pro) c.4507G>C (p.Ala1503Pro) c.4060G>C (p.Ala1354Pro) c.3397G>C (p.Ala1133Pro) c.7912G>C (p.Ala2638Pro) | |
| 5 | g.13776502C>T | CA359208239 | DNAH5 | c.9310G>A (p.Ala3104Thr) c.9265G>A (p.Ala3089Thr) c.9418G>A (p.Ala3140Thr) c.8323G>A (p.Ala2775Thr) c.4507G>A (p.Ala1503Thr) c.4060G>A (p.Ala1354Thr) c.3397G>A (p.Ala1133Thr) c.7912G>A (p.Ala2638Thr) | |
| 5 | g.13776503A>C | CA443535761 | DNAH5 | c.9309T>G (p.Pro3103=) c.9264T>G (p.Pro3088=) c.9417T>G (p.Pro3139=) c.8322T>G (p.Pro2774=) c.4506T>G (p.Pro1502=) c.4059T>G (p.Pro1353=) c.3396T>G (p.Pro1132=) c.7911T>G (p.Pro2637=) | |
| 5 | g.13776503A>G | CA443535762 | DNAH5 | c.9309T>C (p.Pro3103=) c.9264T>C (p.Pro3088=) c.9417T>C (p.Pro3139=) c.8322T>C (p.Pro2774=) c.4506T>C (p.Pro1502=) c.4059T>C (p.Pro1353=) c.3396T>C (p.Pro1132=) c.7911T>C (p.Pro2637=) | |
| 5 | g.13776503A>T | CA443535763 | DNAH5 | c.9309T>A (p.Pro3103=) c.9264T>A (p.Pro3088=) c.9417T>A (p.Pro3139=) c.8322T>A (p.Pro2774=) c.4506T>A (p.Pro1502=) c.4059T>A (p.Pro1353=) c.3396T>A (p.Pro1132=) c.7911T>A (p.Pro2637=) | |
| 5 | g.13776504G>A | CA359208246 | DNAH5 | c.9308C>T (p.Pro3103Leu) c.9263C>T (p.Pro3088Leu) c.9416C>T (p.Pro3139Leu) c.8321C>T (p.Pro2774Leu) c.4505C>T (p.Pro1502Leu) c.4058C>T (p.Pro1353Leu) c.3395C>T (p.Pro1132Leu) c.7910C>T (p.Pro2637Leu) | |
| 5 | g.13776504G>C | CA359208243 | DNAH5 | c.9308C>G (p.Pro3103Arg) c.9263C>G (p.Pro3088Arg) c.9416C>G (p.Pro3139Arg) c.8321C>G (p.Pro2774Arg) c.4505C>G (p.Pro1502Arg) c.4058C>G (p.Pro1353Arg) c.3395C>G (p.Pro1132Arg) c.7910C>G (p.Pro2637Arg) | |
| 5 | g.13776504G>T | CA359208241 | DNAH5 | c.9308C>A (p.Pro3103His) c.9263C>A (p.Pro3088His) c.9416C>A (p.Pro3139His) c.8321C>A (p.Pro2774His) c.4505C>A (p.Pro1502His) c.4058C>A (p.Pro1353His) c.3395C>A (p.Pro1132His) c.7910C>A (p.Pro2637His) | |
| 5 | g.13776505G>A | CA359208248 | DNAH5 | c.9307C>T (p.Pro3103Ser) c.9262C>T (p.Pro3088Ser) c.9415C>T (p.Pro3139Ser) c.8320C>T (p.Pro2774Ser) c.4504C>T (p.Pro1502Ser) c.4057C>T (p.Pro1353Ser) c.3394C>T (p.Pro1132Ser) c.7909C>T (p.Pro2637Ser) | |
| 5 | g.13776505G>C | CA359208250 | DNAH5 | c.9307C>G (p.Pro3103Ala) c.9262C>G (p.Pro3088Ala) c.9415C>G (p.Pro3139Ala) c.8320C>G (p.Pro2774Ala) c.4504C>G (p.Pro1502Ala) c.4057C>G (p.Pro1353Ala) c.3394C>G (p.Pro1132Ala) c.7909C>G (p.Pro2637Ala) | |
| 5 | g.13776505G>T | CA359208251 | DNAH5 | c.9307C>A (p.Pro3103Thr) c.9262C>A (p.Pro3088Thr) c.9415C>A (p.Pro3139Thr) c.8320C>A (p.Pro2774Thr) c.4504C>A (p.Pro1502Thr) c.4057C>A (p.Pro1353Thr) c.3394C>A (p.Pro1132Thr) c.7909C>A (p.Pro2637Thr) | |
| 5 | g.13776506G>A | CA3202583 | DNAH5 | c.9306C>T (p.Phe3102=) c.9261C>T (p.Phe3087=) c.9414C>T (p.Phe3138=) c.8319C>T (p.Phe2773=) c.4503C>T (p.Phe1501=) c.4056C>T (p.Phe1352=) c.3393C>T (p.Phe1131=) c.7908C>T (p.Phe2636=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13776506G>C | CA359208274 | DNAH5 | c.9306C>G (p.Phe3102Leu) c.9261C>G (p.Phe3087Leu) c.9414C>G (p.Phe3138Leu) c.8319C>G (p.Phe2773Leu) c.4503C>G (p.Phe1501Leu) c.4056C>G (p.Phe1352Leu) c.3393C>G (p.Phe1131Leu) c.7908C>G (p.Phe2636Leu) | |
| 5 | g.13776506G= | CA1528435099 | DNAH5 | c.9306C= (p.Phe3102=) c.9261C= (p.Phe3087=) c.9414C= (p.Phe3138=) c.8319C= (p.Phe2773=) c.4503C= (p.Phe1501=) c.4056C= (p.Phe1352=) c.3393C= (p.Phe1131=) c.7908C= (p.Phe2636=) | |
| 5 | g.13776506G>T | CA359208281 | DNAH5 | c.9306C>A (p.Phe3102Leu) c.9261C>A (p.Phe3087Leu) c.9414C>A (p.Phe3138Leu) c.8319C>A (p.Phe2773Leu) c.4503C>A (p.Phe1501Leu) c.4056C>A (p.Phe1352Leu) c.3393C>A (p.Phe1131Leu) c.7908C>A (p.Phe2636Leu) | |
| 5 | g.13776507A>C | CA359208287 | DNAH5 | c.9305T>G (p.Phe3102Cys) c.9260T>G (p.Phe3087Cys) c.9413T>G (p.Phe3138Cys) c.8318T>G (p.Phe2773Cys) c.4502T>G (p.Phe1501Cys) c.4055T>G (p.Phe1352Cys) c.3392T>G (p.Phe1131Cys) c.7907T>G (p.Phe2636Cys) | |
| 5 | g.13776507A>G | CA359208285 | DNAH5 | c.9305T>C (p.Phe3102Ser) c.9260T>C (p.Phe3087Ser) c.9413T>C (p.Phe3138Ser) c.8318T>C (p.Phe2773Ser) c.4502T>C (p.Phe1501Ser) c.4055T>C (p.Phe1352Ser) c.3392T>C (p.Phe1131Ser) c.7907T>C (p.Phe2636Ser) | |
| 5 | g.13776507A>T | CA359208286 | DNAH5 | c.9305T>A (p.Phe3102Tyr) c.9260T>A (p.Phe3087Tyr) c.9413T>A (p.Phe3138Tyr) c.8318T>A (p.Phe2773Tyr) c.4502T>A (p.Phe1501Tyr) c.4055T>A (p.Phe1352Tyr) c.3392T>A (p.Phe1131Tyr) c.7907T>A (p.Phe2636Tyr) | |
| 5 | g.13776508A>C | CA359208288 | DNAH5 | c.9304T>G (p.Phe3102Val) c.9259T>G (p.Phe3087Val) c.9412T>G (p.Phe3138Val) c.8317T>G (p.Phe2773Val) c.4501T>G (p.Phe1501Val) c.4054T>G (p.Phe1352Val) c.3391T>G (p.Phe1131Val) c.7906T>G (p.Phe2636Val) | |
| 5 | g.13776508A>G | CA359208289 | DNAH5 | c.9304T>C (p.Phe3102Leu) c.9259T>C (p.Phe3087Leu) c.9412T>C (p.Phe3138Leu) c.8317T>C (p.Phe2773Leu) c.4501T>C (p.Phe1501Leu) c.4054T>C (p.Phe1352Leu) c.3391T>C (p.Phe1131Leu) c.7906T>C (p.Phe2636Leu) | |
| 5 | g.13776508A>T | CA359208290 | DNAH5 | c.9304T>A (p.Phe3102Ile) c.9259T>A (p.Phe3087Ile) c.9412T>A (p.Phe3138Ile) c.8317T>A (p.Phe2773Ile) c.4501T>A (p.Phe1501Ile) c.4054T>A (p.Phe1352Ile) c.3391T>A (p.Phe1131Ile) c.7906T>A (p.Phe2636Ile) | |
| 5 | g.13776509C>A | CA359208293 | DNAH5 | c.9303G>T (p.Lys3101Asn) c.9258G>T (p.Lys3086Asn) c.9411G>T (p.Lys3137Asn) c.8316G>T (p.Lys2772Asn) c.4500G>T (p.Lys1500Asn) c.4053G>T (p.Lys1351Asn) c.3390G>T (p.Lys1130Asn) c.7905G>T (p.Lys2635Asn) | |
| 5 | g.13776509C>G | CA359208294 | DNAH5 | c.9303G>C (p.Lys3101Asn) c.9258G>C (p.Lys3086Asn) c.9411G>C (p.Lys3137Asn) c.8316G>C (p.Lys2772Asn) c.4500G>C (p.Lys1500Asn) c.4053G>C (p.Lys1351Asn) c.3390G>C (p.Lys1130Asn) c.7905G>C (p.Lys2635Asn) | |
| 5 | g.13776509C>T | CA443535777 | DNAH5 | c.9303G>A (p.Lys3101=) c.9258G>A (p.Lys3086=) c.9411G>A (p.Lys3137=) c.8316G>A (p.Lys2772=) c.4500G>A (p.Lys1500=) c.4053G>A (p.Lys1351=) c.3390G>A (p.Lys1130=) c.7905G>A (p.Lys2635=) | gnomAD v4 |
| 5 | g.13776510T>A | CA359208298 | DNAH5 | c.9302A>T (p.Lys3101Met) c.9257A>T (p.Lys3086Met) c.9410A>T (p.Lys3137Met) c.8315A>T (p.Lys2772Met) c.4499A>T (p.Lys1500Met) c.4052A>T (p.Lys1351Met) c.3389A>T (p.Lys1130Met) c.7904A>T (p.Lys2635Met) | |
| 5 | g.13776510T>C | CA359208316 | DNAH5 | c.9302A>G (p.Lys3101Arg) c.9257A>G (p.Lys3086Arg) c.9410A>G (p.Lys3137Arg) c.8315A>G (p.Lys2772Arg) c.4499A>G (p.Lys1500Arg) c.4052A>G (p.Lys1351Arg) c.3389A>G (p.Lys1130Arg) c.7904A>G (p.Lys2635Arg) | |
| 5 | g.13776510T>G | CA359208317 | DNAH5 | c.9302A>C (p.Lys3101Thr) c.9257A>C (p.Lys3086Thr) c.9410A>C (p.Lys3137Thr) c.8315A>C (p.Lys2772Thr) c.4499A>C (p.Lys1500Thr) c.4052A>C (p.Lys1351Thr) c.3389A>C (p.Lys1130Thr) c.7904A>C (p.Lys2635Thr) | COSMIC |
| 5 | g.13776511T>A | CA359208320 | DNAH5 | c.9301A>T (p.Lys3101Ter) c.9256A>T (p.Lys3086Ter) c.9409A>T (p.Lys3137Ter) c.8314A>T (p.Lys2772Ter) c.4498A>T (p.Lys1500Ter) c.4051A>T (p.Lys1351Ter) c.3388A>T (p.Lys1130Ter) c.7903A>T (p.Lys2635Ter) | |
| 5 | g.13776511T>C | CA359208321 | DNAH5 | c.9301A>G (p.Lys3101Glu) c.9256A>G (p.Lys3086Glu) c.9409A>G (p.Lys3137Glu) c.8314A>G (p.Lys2772Glu) c.4498A>G (p.Lys1500Glu) c.4051A>G (p.Lys1351Glu) c.3388A>G (p.Lys1130Glu) c.7903A>G (p.Lys2635Glu) | |
| 5 | g.13776511T>G | CA3202584 | DNAH5 | c.9301A>C (p.Lys3101Gln) c.9256A>C (p.Lys3086Gln) c.9409A>C (p.Lys3137Gln) c.8314A>C (p.Lys2772Gln) c.4498A>C (p.Lys1500Gln) c.4051A>C (p.Lys1351Gln) c.3388A>C (p.Lys1130Gln) c.7903A>C (p.Lys2635Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776511T= | CA1528435103 | DNAH5 | c.9301A= (p.Lys3101=) c.9256A= (p.Lys3086=) c.9409A= (p.Lys3137=) c.8314A= (p.Lys2772=) c.4498A= (p.Lys1500=) c.4051A= (p.Lys1351=) c.3388A= (p.Lys1130=) c.7903A= (p.Lys2635=) | |
| 5 | g.13776512C>A | CA359208324 | DNAH5 | c.9300G>T (p.Leu3100Phe) c.9255G>T (p.Leu3085Phe) c.9408G>T (p.Leu3136Phe) c.8313G>T (p.Leu2771Phe) c.4497G>T (p.Leu1499Phe) c.4050G>T (p.Leu1350Phe) c.3387G>T (p.Leu1129Phe) c.7902G>T (p.Leu2634Phe) | |
| 5 | g.13776512C>G | CA359208327 | DNAH5 | c.9300G>C (p.Leu3100Phe) c.9255G>C (p.Leu3085Phe) c.9408G>C (p.Leu3136Phe) c.8313G>C (p.Leu2771Phe) c.4497G>C (p.Leu1499Phe) c.4050G>C (p.Leu1350Phe) c.3387G>C (p.Leu1129Phe) c.7902G>C (p.Leu2634Phe) | |
| 5 | g.13776512C>T | CA443535783 | DNAH5 | c.9300G>A (p.Leu3100=) c.9255G>A (p.Leu3085=) c.9408G>A (p.Leu3136=) c.8313G>A (p.Leu2771=) c.4497G>A (p.Leu1499=) c.4050G>A (p.Leu1350=) c.3387G>A (p.Leu1129=) c.7902G>A (p.Leu2634=) | |
| 5 | g.13776513A>C | CA359208328 | DNAH5 | c.9299T>G (p.Leu3100Trp) c.9254T>G (p.Leu3085Trp) c.9407T>G (p.Leu3136Trp) c.8312T>G (p.Leu2771Trp) c.4496T>G (p.Leu1499Trp) c.4049T>G (p.Leu1350Trp) c.3386T>G (p.Leu1129Trp) c.7901T>G (p.Leu2634Trp) | gnomAD v4 |
| 5 | g.13776513A>G | CA359208336 | DNAH5 | c.9299T>C (p.Leu3100Ser) c.9254T>C (p.Leu3085Ser) c.9407T>C (p.Leu3136Ser) c.8312T>C (p.Leu2771Ser) c.4496T>C (p.Leu1499Ser) c.4049T>C (p.Leu1350Ser) c.3386T>C (p.Leu1129Ser) c.7901T>C (p.Leu2634Ser) | |
| 5 | g.13776513A>T | CA359208332 | DNAH5 | c.9299T>A (p.Leu3100Ter) c.9254T>A (p.Leu3085Ter) c.9407T>A (p.Leu3136Ter) c.8312T>A (p.Leu2771Ter) c.4496T>A (p.Leu1499Ter) c.4049T>A (p.Leu1350Ter) c.3386T>A (p.Leu1129Ter) c.7901T>A (p.Leu2634Ter) | |
| 5 | g.13776514A>C | CA359208339 | DNAH5 | c.9298T>G (p.Leu3100Val) c.9253T>G (p.Leu3085Val) c.9406T>G (p.Leu3136Val) c.8311T>G (p.Leu2771Val) c.4495T>G (p.Leu1499Val) c.4048T>G (p.Leu1350Val) c.3385T>G (p.Leu1129Val) c.7900T>G (p.Leu2634Val) | |
| 5 | g.13776514A>G | CA443535785 | DNAH5 | c.9298T>C (p.Leu3100=) c.9253T>C (p.Leu3085=) c.9406T>C (p.Leu3136=) c.8311T>C (p.Leu2771=) c.4495T>C (p.Leu1499=) c.4048T>C (p.Leu1350=) c.3385T>C (p.Leu1129=) c.7900T>C (p.Leu2634=) | ClinVar dbSNP |
| 5 | g.13776514A>T | CA359208344 | DNAH5 | c.9298T>A (p.Leu3100Met) c.9253T>A (p.Leu3085Met) c.9406T>A (p.Leu3136Met) c.8311T>A (p.Leu2771Met) c.4495T>A (p.Leu1499Met) c.4048T>A (p.Leu1350Met) c.3385T>A (p.Leu1129Met) c.7900T>A (p.Leu2634Met) | gnomAD v4 |
| 5 | g.13776515A>C | CA443535786 | DNAH5 | c.9297T>G (p.Ala3099=) c.9252T>G (p.Ala3084=) c.9405T>G (p.Ala3135=) c.8310T>G (p.Ala2770=) c.4494T>G (p.Ala1498=) c.4047T>G (p.Ala1349=) c.3384T>G (p.Ala1128=) c.7899T>G (p.Ala2633=) | |
| 5 | g.13776515A>G | CA443535788 | DNAH5 | c.9297T>C (p.Ala3099=) c.9252T>C (p.Ala3084=) c.9405T>C (p.Ala3135=) c.8310T>C (p.Ala2770=) c.4494T>C (p.Ala1498=) c.4047T>C (p.Ala1349=) c.3384T>C (p.Ala1128=) c.7899T>C (p.Ala2633=) | |
| 5 | g.13776515A>T | CA443535787 | DNAH5 | c.9297T>A (p.Ala3099=) c.9252T>A (p.Ala3084=) c.9405T>A (p.Ala3135=) c.8310T>A (p.Ala2770=) c.4494T>A (p.Ala1498=) c.4047T>A (p.Ala1349=) c.3384T>A (p.Ala1128=) c.7899T>A (p.Ala2633=) | |
| 5 | g.13776516G>A | CA359208348 | DNAH5 | c.9296C>T (p.Ala3099Val) c.9251C>T (p.Ala3084Val) c.9404C>T (p.Ala3135Val) c.8309C>T (p.Ala2770Val) c.4493C>T (p.Ala1498Val) c.4046C>T (p.Ala1349Val) c.3383C>T (p.Ala1128Val) c.7898C>T (p.Ala2633Val) | |
| 5 | g.13776516G>C | CA359208356 | DNAH5 | c.9296C>G (p.Ala3099Gly) c.9251C>G (p.Ala3084Gly) c.9404C>G (p.Ala3135Gly) c.8309C>G (p.Ala2770Gly) c.4493C>G (p.Ala1498Gly) c.4046C>G (p.Ala1349Gly) c.3383C>G (p.Ala1128Gly) c.7898C>G (p.Ala2633Gly) | |
| 5 | g.13776516G>T | CA359208359 | DNAH5 | c.9296C>A (p.Ala3099Asp) c.9251C>A (p.Ala3084Asp) c.9404C>A (p.Ala3135Asp) c.8309C>A (p.Ala2770Asp) c.4493C>A (p.Ala1498Asp) c.4046C>A (p.Ala1349Asp) c.3383C>A (p.Ala1128Asp) c.7898C>A (p.Ala2633Asp) | |
| 5 | g.13776517C>A | CA359208361 | DNAH5 | c.9295G>T (p.Ala3099Ser) c.9250G>T (p.Ala3084Ser) c.9403G>T (p.Ala3135Ser) c.8308G>T (p.Ala2770Ser) c.4492G>T (p.Ala1498Ser) c.4045G>T (p.Ala1349Ser) c.3382G>T (p.Ala1128Ser) c.7897G>T (p.Ala2633Ser) | |
| 5 | g.13776517C= | CA1528435109 | DNAH5 | c.9295G= (p.Ala3099=) c.9250G= (p.Ala3084=) c.9403G= (p.Ala3135=) c.8308G= (p.Ala2770=) c.4492G= (p.Ala1498=) c.4045G= (p.Ala1349=) c.3382G= (p.Ala1128=) c.7897G= (p.Ala2633=) | |
| 5 | g.13776517C>G | CA359208369 | DNAH5 | c.9295G>C (p.Ala3099Pro) c.9250G>C (p.Ala3084Pro) c.9403G>C (p.Ala3135Pro) c.8308G>C (p.Ala2770Pro) c.4492G>C (p.Ala1498Pro) c.4045G>C (p.Ala1349Pro) c.3382G>C (p.Ala1128Pro) c.7897G>C (p.Ala2633Pro) | |
| 5 | g.13776517C>T | CA359208372 | DNAH5 | c.9295G>A (p.Ala3099Thr) c.9250G>A (p.Ala3084Thr) c.9403G>A (p.Ala3135Thr) c.8308G>A (p.Ala2770Thr) c.4492G>A (p.Ala1498Thr) c.4045G>A (p.Ala1349Thr) c.3382G>A (p.Ala1128Thr) c.7897G>A (p.Ala2633Thr) | dbSNP |
| 5 | g.13776519_13776520del | CA645540999 | DNAH5 | c.9294_9295del (p.Arg3098SerfsTer14) c.9249_9250del (p.Arg3083SerfsTer14) c.9402_9403del (p.Arg3134SerfsTer14) c.8307_8308del (p.Arg2769SerfsTer14) c.4491_4492del (p.Arg1497SerfsTer14) c.4044_4045del (p.Arg1348SerfsTer14) c.3381_3382del (p.Arg1127SerfsTer14) c.7896_7897del (p.Arg2632SerfsTer14) | COSMIC |
| 5 | g.13776518T>A | CA359208380 | DNAH5 | c.9294A>T (p.Arg3098Ser) c.9249A>T (p.Arg3083Ser) c.9402A>T (p.Arg3134Ser) c.8307A>T (p.Arg2769Ser) c.4491A>T (p.Arg1497Ser) c.4044A>T (p.Arg1348Ser) c.3381A>T (p.Arg1127Ser) c.7896A>T (p.Arg2632Ser) | |
| 5 | g.13776518T>C | CA443535793 | DNAH5 | c.9294A>G (p.Arg3098=) c.9249A>G (p.Arg3083=) c.9402A>G (p.Arg3134=) c.8307A>G (p.Arg2769=) c.4491A>G (p.Arg1497=) c.4044A>G (p.Arg1348=) c.3381A>G (p.Arg1127=) c.7896A>G (p.Arg2632=) | |
| 5 | g.13776518T>G | CA359208391 | DNAH5 | c.9294A>C (p.Arg3098Ser) c.9249A>C (p.Arg3083Ser) c.9402A>C (p.Arg3134Ser) c.8307A>C (p.Arg2769Ser) c.4491A>C (p.Arg1497Ser) c.4044A>C (p.Arg1348Ser) c.3381A>C (p.Arg1127Ser) c.7896A>C (p.Arg2632Ser) | |
| 5 | g.13776519C>A | CA359208394 | DNAH5 | c.9293G>T (p.Arg3098Ile) c.9248G>T (p.Arg3083Ile) c.9401G>T (p.Arg3134Ile) c.8306G>T (p.Arg2769Ile) c.4490G>T (p.Arg1497Ile) c.4043G>T (p.Arg1348Ile) c.3380G>T (p.Arg1127Ile) c.7895G>T (p.Arg2632Ile) | |
| 5 | g.13776519C>G | CA359208405 | DNAH5 | c.9293G>C (p.Arg3098Thr) c.9248G>C (p.Arg3083Thr) c.9401G>C (p.Arg3134Thr) c.8306G>C (p.Arg2769Thr) c.4490G>C (p.Arg1497Thr) c.4043G>C (p.Arg1348Thr) c.3380G>C (p.Arg1127Thr) c.7895G>C (p.Arg2632Thr) | |
| 5 | g.13776519C>T | CA359208408 | DNAH5 | c.9293G>A (p.Arg3098Lys) c.9248G>A (p.Arg3083Lys) c.9401G>A (p.Arg3134Lys) c.8306G>A (p.Arg2769Lys) c.4490G>A (p.Arg1497Lys) c.4043G>A (p.Arg1348Lys) c.3380G>A (p.Arg1127Lys) c.7895G>A (p.Arg2632Lys) | COSMIC |
| 5 | g.13776520T>A | CA359208415 | DNAH5 | c.9292A>T (p.Arg3098Ter) c.9247A>T (p.Arg3083Ter) c.9400A>T (p.Arg3134Ter) c.8305A>T (p.Arg2769Ter) c.4489A>T (p.Arg1497Ter) c.4042A>T (p.Arg1348Ter) c.3379A>T (p.Arg1127Ter) c.7894A>T (p.Arg2632Ter) | ClinVar |
| 5 | g.13776520T>C | CA359208414 | DNAH5 | c.9292A>G (p.Arg3098Gly) c.9247A>G (p.Arg3083Gly) c.9400A>G (p.Arg3134Gly) c.8305A>G (p.Arg2769Gly) c.4489A>G (p.Arg1497Gly) c.4042A>G (p.Arg1348Gly) c.3379A>G (p.Arg1127Gly) c.7894A>G (p.Arg2632Gly) | |
| 5 | g.13776520T>G | CA443535799 | DNAH5 | c.9292A>C (p.Arg3098=) c.9247A>C (p.Arg3083=) c.9400A>C (p.Arg3134=) c.8305A>C (p.Arg2769=) c.4489A>C (p.Arg1497=) c.4042A>C (p.Arg1348=) c.3379A>C (p.Arg1127=) c.7894A>C (p.Arg2632=) | |
| 5 | g.13776521G>A | CA443535800 | DNAH5 | c.9291C>T (p.Asn3097=) c.9246C>T (p.Asn3082=) c.9399C>T (p.Asn3133=) c.8304C>T (p.Asn2768=) c.4488C>T (p.Asn1496=) c.4041C>T (p.Asn1347=) c.3378C>T (p.Asn1126=) c.7893C>T (p.Asn2631=) | ClinVar dbSNP |
| 5 | g.13776521G>C | CA359208419 | DNAH5 | c.9291C>G (p.Asn3097Lys) c.9246C>G (p.Asn3082Lys) c.9399C>G (p.Asn3133Lys) c.8304C>G (p.Asn2768Lys) c.4488C>G (p.Asn1496Lys) c.4041C>G (p.Asn1347Lys) c.3378C>G (p.Asn1126Lys) c.7893C>G (p.Asn2631Lys) | |
| 5 | g.13776521G>T | CA359208420 | DNAH5 | c.9291C>A (p.Asn3097Lys) c.9246C>A (p.Asn3082Lys) c.9399C>A (p.Asn3133Lys) c.8304C>A (p.Asn2768Lys) c.4488C>A (p.Asn1496Lys) c.4041C>A (p.Asn1347Lys) c.3378C>A (p.Asn1126Lys) c.7893C>A (p.Asn2631Lys) | |
| 5 | g.13776522T>A | CA359208423 | DNAH5 | c.9290A>T (p.Asn3097Ile) c.9245A>T (p.Asn3082Ile) c.9398A>T (p.Asn3133Ile) c.8303A>T (p.Asn2768Ile) c.4487A>T (p.Asn1496Ile) c.4040A>T (p.Asn1347Ile) c.3377A>T (p.Asn1126Ile) c.7892A>T (p.Asn2631Ile) | |
| 5 | g.13776522T>C | CA359208428 | DNAH5 | c.9290A>G (p.Asn3097Ser) c.9245A>G (p.Asn3082Ser) c.9398A>G (p.Asn3133Ser) c.8303A>G (p.Asn2768Ser) c.4487A>G (p.Asn1496Ser) c.4040A>G (p.Asn1347Ser) c.3377A>G (p.Asn1126Ser) c.7892A>G (p.Asn2631Ser) | |
| 5 | g.13776522T>G | CA359208437 | DNAH5 | c.9290A>C (p.Asn3097Thr) c.9245A>C (p.Asn3082Thr) c.9398A>C (p.Asn3133Thr) c.8303A>C (p.Asn2768Thr) c.4487A>C (p.Asn1496Thr) c.4040A>C (p.Asn1347Thr) c.3377A>C (p.Asn1126Thr) c.7892A>C (p.Asn2631Thr) | |
| 5 | g.13776523T>A | CA359208449 | DNAH5 | c.9289A>T (p.Asn3097Tyr) c.9244A>T (p.Asn3082Tyr) c.9397A>T (p.Asn3133Tyr) c.8302A>T (p.Asn2768Tyr) c.4486A>T (p.Asn1496Tyr) c.4039A>T (p.Asn1347Tyr) c.3376A>T (p.Asn1126Tyr) c.7891A>T (p.Asn2631Tyr) | |
| 5 | g.13776523T>C | CA359208455 | DNAH5 | c.9289A>G (p.Asn3097Asp) c.9244A>G (p.Asn3082Asp) c.9397A>G (p.Asn3133Asp) c.8302A>G (p.Asn2768Asp) c.4486A>G (p.Asn1496Asp) c.4039A>G (p.Asn1347Asp) c.3376A>G (p.Asn1126Asp) c.7891A>G (p.Asn2631Asp) | |
| 5 | g.13776523T>G | CA359208457 | DNAH5 | c.9289A>C (p.Asn3097His) c.9244A>C (p.Asn3082His) c.9397A>C (p.Asn3133His) c.8302A>C (p.Asn2768His) c.4486A>C (p.Asn1496His) c.4039A>C (p.Asn1347His) c.3376A>C (p.Asn1126His) c.7891A>C (p.Asn2631His) | |
| 5 | g.13776524T>A | CA443535802 | DNAH5 | c.9288A>T (p.Arg3096=) c.9243A>T (p.Arg3081=) c.9396A>T (p.Arg3132=) c.8301A>T (p.Arg2767=) c.4485A>T (p.Arg1495=) c.4038A>T (p.Arg1346=) c.3375A>T (p.Arg1125=) c.7890A>T (p.Arg2630=) | |
| 5 | g.13776524T>C | CA443535803 | DNAH5 | c.9288A>G (p.Arg3096=) c.9243A>G (p.Arg3081=) c.9396A>G (p.Arg3132=) c.8301A>G (p.Arg2767=) c.4485A>G (p.Arg1495=) c.4038A>G (p.Arg1346=) c.3375A>G (p.Arg1125=) c.7890A>G (p.Arg2630=) | |
| 5 | g.13776524T>G | CA443535804 | DNAH5 | c.9288A>C (p.Arg3096=) c.9243A>C (p.Arg3081=) c.9396A>C (p.Arg3132=) c.8301A>C (p.Arg2767=) c.4485A>C (p.Arg1495=) c.4038A>C (p.Arg1346=) c.3375A>C (p.Arg1125=) c.7890A>C (p.Arg2630=) | |
| 5 | g.13776525C>A | CA359208460 | DNAH5 | c.9287G>T (p.Arg3096Leu) c.9242G>T (p.Arg3081Leu) c.9395G>T (p.Arg3132Leu) c.8300G>T (p.Arg2767Leu) c.4484G>T (p.Arg1495Leu) c.4037G>T (p.Arg1346Leu) c.3374G>T (p.Arg1125Leu) c.7889G>T (p.Arg2630Leu) | gnomAD v4 |
| 5 | g.13776525C= | CA1528435112 | DNAH5 | c.9287G= (p.Arg3096=) c.9242G= (p.Arg3081=) c.9395G= (p.Arg3132=) c.8300G= (p.Arg2767=) c.4484G= (p.Arg1495=) c.4037G= (p.Arg1346=) c.3374G= (p.Arg1125=) c.7889G= (p.Arg2630=) | |
| 5 | g.13776525C>G | CA359208461 | DNAH5 | c.9287G>C (p.Arg3096Pro) c.9242G>C (p.Arg3081Pro) c.9395G>C (p.Arg3132Pro) c.8300G>C (p.Arg2767Pro) c.4484G>C (p.Arg1495Pro) c.4037G>C (p.Arg1346Pro) c.3374G>C (p.Arg1125Pro) c.7889G>C (p.Arg2630Pro) | |
| 5 | g.13776525C>T | CA359208463 | DNAH5 | c.9287G>A (p.Arg3096Gln) c.9242G>A (p.Arg3081Gln) c.9395G>A (p.Arg3132Gln) c.8300G>A (p.Arg2767Gln) c.4484G>A (p.Arg1495Gln) c.4037G>A (p.Arg1346Gln) c.3374G>A (p.Arg1125Gln) c.7889G>A (p.Arg2630Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13776526G>A | CA113937662 | DNAH5 | c.9286C>T (p.Arg3096Ter) c.9241C>T (p.Arg3081Ter) c.9394C>T (p.Arg3132Ter) c.8299C>T (p.Arg2767Ter) c.4483C>T (p.Arg1495Ter) c.4036C>T (p.Arg1346Ter) c.3373C>T (p.Arg1125Ter) c.7888C>T (p.Arg2630Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13776526G>C | CA359208468 | DNAH5 | c.9286C>G (p.Arg3096Gly) c.9241C>G (p.Arg3081Gly) c.9394C>G (p.Arg3132Gly) c.8299C>G (p.Arg2767Gly) c.4483C>G (p.Arg1495Gly) c.4036C>G (p.Arg1346Gly) c.3373C>G (p.Arg1125Gly) c.7888C>G (p.Arg2630Gly) | |
| 5 | g.13776526G= | CA1528435117 | DNAH5 | c.9286C= (p.Arg3096=) c.9241C= (p.Arg3081=) c.9394C= (p.Arg3132=) c.8299C= (p.Arg2767=) c.4483C= (p.Arg1495=) c.4036C= (p.Arg1346=) c.3373C= (p.Arg1125=) c.7888C= (p.Arg2630=) | |
| 5 | g.13776526G>T | CA443535812 | DNAH5 | c.9286C>A (p.Arg3096=) c.9241C>A (p.Arg3081=) c.9394C>A (p.Arg3132=) c.8299C>A (p.Arg2767=) c.4483C>A (p.Arg1495=) c.4036C>A (p.Arg1346=) c.3373C>A (p.Arg1125=) c.7888C>A (p.Arg2630=) | ClinVar |
| 5 | g.13776527A>C | CA359208475 | DNAH5 | c.9285T>G (p.Phe3095Leu) c.9240T>G (p.Phe3080Leu) c.9393T>G (p.Phe3131Leu) c.8298T>G (p.Phe2766Leu) c.4482T>G (p.Phe1494Leu) c.4035T>G (p.Phe1345Leu) c.3372T>G (p.Phe1124Leu) c.7887T>G (p.Phe2629Leu) | |
| 5 | g.13776527A>G | CA443535813 | DNAH5 | c.9285T>C (p.Phe3095=) c.9240T>C (p.Phe3080=) c.9393T>C (p.Phe3131=) c.8298T>C (p.Phe2766=) c.4482T>C (p.Phe1494=) c.4035T>C (p.Phe1345=) c.3372T>C (p.Phe1124=) c.7887T>C (p.Phe2629=) | |
| 5 | g.13776527A>T | CA359208478 | DNAH5 | c.9285T>A (p.Phe3095Leu) c.9240T>A (p.Phe3080Leu) c.9393T>A (p.Phe3131Leu) c.8298T>A (p.Phe2766Leu) c.4482T>A (p.Phe1494Leu) c.4035T>A (p.Phe1345Leu) c.3372T>A (p.Phe1124Leu) c.7887T>A (p.Phe2629Leu) | |
| 5 | g.13776528A>C | CA359208495 | DNAH5 | c.9284T>G (p.Phe3095Cys) c.9239T>G (p.Phe3080Cys) c.9392T>G (p.Phe3131Cys) c.8297T>G (p.Phe2766Cys) c.4481T>G (p.Phe1494Cys) c.4034T>G (p.Phe1345Cys) c.3371T>G (p.Phe1124Cys) c.7886T>G (p.Phe2629Cys) | |
| 5 | g.13776528A>G | CA359208500 | DNAH5 | c.9284T>C (p.Phe3095Ser) c.9239T>C (p.Phe3080Ser) c.9392T>C (p.Phe3131Ser) c.8297T>C (p.Phe2766Ser) c.4481T>C (p.Phe1494Ser) c.4034T>C (p.Phe1345Ser) c.3371T>C (p.Phe1124Ser) c.7886T>C (p.Phe2629Ser) | |
| 5 | g.13776528A>T | CA359208496 | DNAH5 | c.9284T>A (p.Phe3095Tyr) c.9239T>A (p.Phe3080Tyr) c.9392T>A (p.Phe3131Tyr) c.8297T>A (p.Phe2766Tyr) c.4481T>A (p.Phe1494Tyr) c.4034T>A (p.Phe1345Tyr) c.3371T>A (p.Phe1124Tyr) c.7886T>A (p.Phe2629Tyr) | |
| 5 | g.13776529A>C | CA359208501 | DNAH5 | c.9283T>G (p.Phe3095Val) c.9238T>G (p.Phe3080Val) c.9391T>G (p.Phe3131Val) c.8296T>G (p.Phe2766Val) c.4480T>G (p.Phe1494Val) c.4033T>G (p.Phe1345Val) c.3370T>G (p.Phe1124Val) c.7885T>G (p.Phe2629Val) | |
| 5 | g.13776529A>G | CA359208507 | DNAH5 | c.9283T>C (p.Phe3095Leu) c.9238T>C (p.Phe3080Leu) c.9391T>C (p.Phe3131Leu) c.8296T>C (p.Phe2766Leu) c.4480T>C (p.Phe1494Leu) c.4033T>C (p.Phe1345Leu) c.3370T>C (p.Phe1124Leu) c.7885T>C (p.Phe2629Leu) | |
| 5 | g.13776529A>T | CA359208502 | DNAH5 | c.9283T>A (p.Phe3095Ile) c.9238T>A (p.Phe3080Ile) c.9391T>A (p.Phe3131Ile) c.8296T>A (p.Phe2766Ile) c.4480T>A (p.Phe1494Ile) c.4033T>A (p.Phe1345Ile) c.3370T>A (p.Phe1124Ile) c.7885T>A (p.Phe2629Ile) | |
| 5 | g.13776530T>A | CA359208510 | DNAH5 | c.9282A>T (p.Lys3094Asn) c.9237A>T (p.Lys3079Asn) c.9390A>T (p.Lys3130Asn) c.8295A>T (p.Lys2765Asn) c.4479A>T (p.Lys1493Asn) c.4032A>T (p.Lys1344Asn) c.3369A>T (p.Lys1123Asn) c.7884A>T (p.Lys2628Asn) | |
| 5 | g.13776530T>C | CA443535822 | DNAH5 | c.9282A>G (p.Lys3094=) c.9237A>G (p.Lys3079=) c.9390A>G (p.Lys3130=) c.8295A>G (p.Lys2765=) c.4479A>G (p.Lys1493=) c.4032A>G (p.Lys1344=) c.3369A>G (p.Lys1123=) c.7884A>G (p.Lys2628=) | |
| 5 | g.13776530T>G | CA359208515 | DNAH5 | c.9282A>C (p.Lys3094Asn) c.9237A>C (p.Lys3079Asn) c.9390A>C (p.Lys3130Asn) c.8295A>C (p.Lys2765Asn) c.4479A>C (p.Lys1493Asn) c.4032A>C (p.Lys1344Asn) c.3369A>C (p.Lys1123Asn) c.7884A>C (p.Lys2628Asn) | |
| 5 | g.13776531T>A | CA359208518 | DNAH5 | c.9281A>T (p.Lys3094Ile) c.9236A>T (p.Lys3079Ile) c.9389A>T (p.Lys3130Ile) c.8294A>T (p.Lys2765Ile) c.4478A>T (p.Lys1493Ile) c.4031A>T (p.Lys1344Ile) c.3368A>T (p.Lys1123Ile) c.7883A>T (p.Lys2628Ile) | |
| 5 | g.13776531T>C | CA359208536 | DNAH5 | c.9281A>G (p.Lys3094Arg) c.9236A>G (p.Lys3079Arg) c.9389A>G (p.Lys3130Arg) c.8294A>G (p.Lys2765Arg) c.4478A>G (p.Lys1493Arg) c.4031A>G (p.Lys1344Arg) c.3368A>G (p.Lys1123Arg) c.7883A>G (p.Lys2628Arg) | |
| 5 | g.13776531T>G | CA359208530 | DNAH5 | c.9281A>C (p.Lys3094Thr) c.9236A>C (p.Lys3079Thr) c.9389A>C (p.Lys3130Thr) c.8294A>C (p.Lys2765Thr) c.4478A>C (p.Lys1493Thr) c.4031A>C (p.Lys1344Thr) c.3368A>C (p.Lys1123Thr) c.7883A>C (p.Lys2628Thr) | COSMIC |
| 5 | g.13776532T>A | CA359208558 | DNAH5 | c.9280A>T (p.Lys3094Ter) c.9235A>T (p.Lys3079Ter) c.9388A>T (p.Lys3130Ter) c.8293A>T (p.Lys2765Ter) c.4477A>T (p.Lys1493Ter) c.4030A>T (p.Lys1344Ter) c.3367A>T (p.Lys1123Ter) c.7882A>T (p.Lys2628Ter) | ClinVar dbSNP |
| 5 | g.13776532T>C | CA359208564 | DNAH5 | c.9280A>G (p.Lys3094Glu) c.9235A>G (p.Lys3079Glu) c.9388A>G (p.Lys3130Glu) c.8293A>G (p.Lys2765Glu) c.4477A>G (p.Lys1493Glu) c.4030A>G (p.Lys1344Glu) c.3367A>G (p.Lys1123Glu) c.7882A>G (p.Lys2628Glu) | |
| 5 | g.13776532T>G | CA359208566 | DNAH5 | c.9280A>C (p.Lys3094Gln) c.9235A>C (p.Lys3079Gln) c.9388A>C (p.Lys3130Gln) c.8293A>C (p.Lys2765Gln) c.4477A>C (p.Lys1493Gln) c.4030A>C (p.Lys1344Gln) c.3367A>C (p.Lys1123Gln) c.7882A>C (p.Lys2628Gln) | |
| 5 | g.13776533C>A | CA359208570 | DNAH5 | c.9279G>T (p.Glu3093Asp) c.9234G>T (p.Glu3078Asp) c.9387G>T (p.Glu3129Asp) c.8292G>T (p.Glu2764Asp) c.4476G>T (p.Glu1492Asp) c.4029G>T (p.Glu1343Asp) c.3366G>T (p.Glu1122Asp) c.7881G>T (p.Glu2627Asp) | COSMIC |
| 5 | g.13776533C>G | CA359208572 | DNAH5 | c.9279G>C (p.Glu3093Asp) c.9234G>C (p.Glu3078Asp) c.9387G>C (p.Glu3129Asp) c.8292G>C (p.Glu2764Asp) c.4476G>C (p.Glu1492Asp) c.4029G>C (p.Glu1343Asp) c.3366G>C (p.Glu1122Asp) c.7881G>C (p.Glu2627Asp) | |
| 5 | g.13776533C>T | CA443535833 | DNAH5 | c.9279G>A (p.Glu3093=) c.9234G>A (p.Glu3078=) c.9387G>A (p.Glu3129=) c.8292G>A (p.Glu2764=) c.4476G>A (p.Glu1492=) c.4029G>A (p.Glu1343=) c.3366G>A (p.Glu1122=) c.7881G>A (p.Glu2627=) | ClinVar dbSNP |
| 5 | g.13776533_13776534delinsCT | CA1528435119 | DNAH5 | c.9278_9279delinsAG (p.Glu3093=) c.9233_9234delinsAG (p.Glu3078=) c.9386_9387delinsAG (p.Glu3129=) c.8291_8292delinsAG (p.Glu2764=) c.4475_4476delinsAG (p.Glu1492=) c.4028_4029delinsAG (p.Glu1343=) c.3365_3366delinsAG (p.Glu1122=) c.7880_7881delinsAG (p.Glu2627=) | |
| 5 | g.13776534del | CA1073394354 | DNAH5 | c.9278del (p.Glu3093GlyfsTer8) c.9233del (p.Glu3078GlyfsTer8) c.9386del (p.Glu3129GlyfsTer8) c.8291del (p.Glu2764GlyfsTer8) c.4475del (p.Glu1492GlyfsTer8) c.4028del (p.Glu1343GlyfsTer8) c.3365del (p.Glu1122GlyfsTer8) c.7880del (p.Glu2627GlyfsTer8) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13776534T>A | CA359208573 | DNAH5 | c.9278A>T (p.Glu3093Val) c.9233A>T (p.Glu3078Val) c.9386A>T (p.Glu3129Val) c.8291A>T (p.Glu2764Val) c.4475A>T (p.Glu1492Val) c.4028A>T (p.Glu1343Val) c.3365A>T (p.Glu1122Val) c.7880A>T (p.Glu2627Val) | |
| 5 | g.13776534T>C | CA359208574 | DNAH5 | c.9278A>G (p.Glu3093Gly) c.9233A>G (p.Glu3078Gly) c.9386A>G (p.Glu3129Gly) c.8291A>G (p.Glu2764Gly) c.4475A>G (p.Glu1492Gly) c.4028A>G (p.Glu1343Gly) c.3365A>G (p.Glu1122Gly) c.7880A>G (p.Glu2627Gly) | |
| 5 | g.13776534T>G | CA359208575 | DNAH5 | c.9278A>C (p.Glu3093Ala) c.9233A>C (p.Glu3078Ala) c.9386A>C (p.Glu3129Ala) c.8291A>C (p.Glu2764Ala) c.4475A>C (p.Glu1492Ala) c.4028A>C (p.Glu1343Ala) c.3365A>C (p.Glu1122Ala) c.7880A>C (p.Glu2627Ala) | |
| 5 | g.13776534T= | CA1528435122 | DNAH5 | c.9278A= (p.Glu3093=) c.9233A= (p.Glu3078=) c.9386A= (p.Glu3129=) c.8291A= (p.Glu2764=) c.4475A= (p.Glu1492=) c.4028A= (p.Glu1343=) c.3365A= (p.Glu1122=) c.7880A= (p.Glu2627=) | |
| 5 | g.13776535C>A | CA359208576 | DNAH5 | c.9277G>T (p.Glu3093Ter) c.9232G>T (p.Glu3078Ter) c.9385G>T (p.Glu3129Ter) c.8290G>T (p.Glu2764Ter) c.4474G>T (p.Glu1492Ter) c.4027G>T (p.Glu1343Ter) c.3364G>T (p.Glu1122Ter) c.7879G>T (p.Glu2627Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13776535C= | CA1528435126 | DNAH5 | c.9277G= (p.Glu3093=) c.9232G= (p.Glu3078=) c.9385G= (p.Glu3129=) c.8290G= (p.Glu2764=) c.4474G= (p.Glu1492=) c.4027G= (p.Glu1343=) c.3364G= (p.Glu1122=) c.7879G= (p.Glu2627=) | |
| 5 | g.13776535C>G | CA359208577 | DNAH5 | c.9277G>C (p.Glu3093Gln) c.9232G>C (p.Glu3078Gln) c.9385G>C (p.Glu3129Gln) c.8290G>C (p.Glu2764Gln) c.4474G>C (p.Glu1492Gln) c.4027G>C (p.Glu1343Gln) c.3364G>C (p.Glu1122Gln) c.7879G>C (p.Glu2627Gln) | |
| 5 | g.13776535C>T | CA359208580 | DNAH5 | c.9277G>A (p.Glu3093Lys) c.9232G>A (p.Glu3078Lys) c.9385G>A (p.Glu3129Lys) c.8290G>A (p.Glu2764Lys) c.4474G>A (p.Glu1492Lys) c.4027G>A (p.Glu1343Lys) c.3364G>A (p.Glu1122Lys) c.7879G>A (p.Glu2627Lys) | |
| 5 | g.13776539dup | CA1073394356 | DNAH5 | c.9277dup (p.Glu3093GlyfsTer20) c.9232dup (p.Glu3078GlyfsTer20) c.9385dup (p.Glu3129GlyfsTer20) c.8290dup (p.Glu2764GlyfsTer20) c.4474dup (p.Glu1492GlyfsTer20) c.4027dup (p.Glu1343GlyfsTer20) c.3364dup (p.Glu1122GlyfsTer20) c.7879dup (p.Glu2627GlyfsTer20) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13776536C>A | CA443535840 | DNAH5 | c.9276G>T (p.Gly3092=) c.9231G>T (p.Gly3077=) c.9384G>T (p.Gly3128=) c.8289G>T (p.Gly2763=) c.4473G>T (p.Gly1491=) c.4026G>T (p.Gly1342=) c.3363G>T (p.Gly1121=) c.7878G>T (p.Gly2626=) | |
| 5 | g.13776536C>G | CA443535838 | DNAH5 | c.9276G>C (p.Gly3092=) c.9231G>C (p.Gly3077=) c.9384G>C (p.Gly3128=) c.8289G>C (p.Gly2763=) c.4473G>C (p.Gly1491=) c.4026G>C (p.Gly1342=) c.3363G>C (p.Gly1121=) c.7878G>C (p.Gly2626=) | |
| 5 | g.13776536C>T | CA443535836 | DNAH5 | c.9276G>A (p.Gly3092=) c.9231G>A (p.Gly3077=) c.9384G>A (p.Gly3128=) c.8289G>A (p.Gly2763=) c.4473G>A (p.Gly1491=) c.4026G>A (p.Gly1342=) c.3363G>A (p.Gly1121=) c.7878G>A (p.Gly2626=) | ClinVar dbSNP |
| 5 | g.13776537C>A | CA359208586 | DNAH5 | c.9275G>T (p.Gly3092Val) c.9230G>T (p.Gly3077Val) c.9383G>T (p.Gly3128Val) c.8288G>T (p.Gly2763Val) c.4472G>T (p.Gly1491Val) c.4025G>T (p.Gly1342Val) c.3362G>T (p.Gly1121Val) c.7877G>T (p.Gly2626Val) | |
| 5 | g.13776537C>G | CA359208581 | DNAH5 | c.9275G>C (p.Gly3092Ala) c.9230G>C (p.Gly3077Ala) c.9383G>C (p.Gly3128Ala) c.8288G>C (p.Gly2763Ala) c.4472G>C (p.Gly1491Ala) c.4025G>C (p.Gly1342Ala) c.3362G>C (p.Gly1121Ala) c.7877G>C (p.Gly2626Ala) | COSMIC |
| 5 | g.13776537C>T | CA359208582 | DNAH5 | c.9275G>A (p.Gly3092Glu) c.9230G>A (p.Gly3077Glu) c.9383G>A (p.Gly3128Glu) c.8288G>A (p.Gly2763Glu) c.4472G>A (p.Gly1491Glu) c.4025G>A (p.Gly1342Glu) c.3362G>A (p.Gly1121Glu) c.7877G>A (p.Gly2626Glu) | gnomAD v4 COSMIC |
| 5 | g.13776538C>A | CA359208591 | DNAH5 | c.9274G>T (p.Gly3092Trp) c.9229G>T (p.Gly3077Trp) c.9382G>T (p.Gly3128Trp) c.8287G>T (p.Gly2763Trp) c.4471G>T (p.Gly1491Trp) c.4024G>T (p.Gly1342Trp) c.3361G>T (p.Gly1121Trp) c.7876G>T (p.Gly2626Trp) | |
| 5 | g.13776538C= | CA1528435129 | DNAH5 | c.9274G= (p.Gly3092=) c.9229G= (p.Gly3077=) c.9382G= (p.Gly3128=) c.8287G= (p.Gly2763=) c.4471G= (p.Gly1491=) c.4024G= (p.Gly1342=) c.3361G= (p.Gly1121=) c.7876G= (p.Gly2626=) | |
| 5 | g.13776538C>G | CA359208592 | DNAH5 | c.9274G>C (p.Gly3092Arg) c.9229G>C (p.Gly3077Arg) c.9382G>C (p.Gly3128Arg) c.8287G>C (p.Gly2763Arg) c.4471G>C (p.Gly1491Arg) c.4024G>C (p.Gly1342Arg) c.3361G>C (p.Gly1121Arg) c.7876G>C (p.Gly2626Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13776538C>T | CA359208595 | DNAH5 | c.9274G>A (p.Gly3092Arg) c.9229G>A (p.Gly3077Arg) c.9382G>A (p.Gly3128Arg) c.8287G>A (p.Gly2763Arg) c.4471G>A (p.Gly1491Arg) c.4024G>A (p.Gly1342Arg) c.3361G>A (p.Gly1121Arg) c.7876G>A (p.Gly2626Arg) | dbSNP |
| 5 | g.13776539_13776541del | CA2673268734 | DNAH5 | c.9272_9274del (p.Val3091del) c.9227_9229del (p.Val3076del) c.9380_9382del (p.Val3127del) c.8285_8287del (p.Val2762del) c.4469_4471del (p.Val1490del) c.4022_4024del (p.Val1341del) c.3359_3361del (p.Val1120del) c.7874_7876del (p.Val2625del) | gnomAD v4 |
| 5 | g.13776539C>A | CA443535848 | DNAH5 | c.9273G>T (p.Val3091=) c.9228G>T (p.Val3076=) c.9381G>T (p.Val3127=) c.8286G>T (p.Val2762=) c.4470G>T (p.Val1490=) c.4023G>T (p.Val1341=) c.3360G>T (p.Val1120=) c.7875G>T (p.Val2625=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776539C= | CA1528435133 | DNAH5 | c.9273G= (p.Val3091=) c.9228G= (p.Val3076=) c.9381G= (p.Val3127=) c.8286G= (p.Val2762=) c.4470G= (p.Val1490=) c.4023G= (p.Val1341=) c.3360G= (p.Val1120=) c.7875G= (p.Val2625=) | |
| 5 | g.13776539C>G | CA3202585 | DNAH5 | c.9273G>C (p.Val3091=) c.9228G>C (p.Val3076=) c.9381G>C (p.Val3127=) c.8286G>C (p.Val2762=) c.4470G>C (p.Val1490=) c.4023G>C (p.Val1341=) c.3360G>C (p.Val1120=) c.7875G>C (p.Val2625=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776539C>T | CA443535846 | DNAH5 | c.9273G>A (p.Val3091=) c.9228G>A (p.Val3076=) c.9381G>A (p.Val3127=) c.8286G>A (p.Val2762=) c.4470G>A (p.Val1490=) c.4023G>A (p.Val1341=) c.3360G>A (p.Val1120=) c.7875G>A (p.Val2625=) | ClinVar |
| 5 | g.13776540A= | CA1528435137 | DNAH5 | c.9272T= (p.Val3091=) c.9227T= (p.Val3076=) c.9380T= (p.Val3127=) c.8285T= (p.Val2762=) c.4469T= (p.Val1490=) c.4022T= (p.Val1341=) c.3359T= (p.Val1120=) c.7874T= (p.Val2625=) | |
| 5 | g.13776540A>C | CA359208612 | DNAH5 | c.9272T>G (p.Val3091Gly) c.9227T>G (p.Val3076Gly) c.9380T>G (p.Val3127Gly) c.8285T>G (p.Val2762Gly) c.4469T>G (p.Val1490Gly) c.4022T>G (p.Val1341Gly) c.3359T>G (p.Val1120Gly) c.7874T>G (p.Val2625Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13776540A>G | CA359208615 | DNAH5 | c.9272T>C (p.Val3091Ala) c.9227T>C (p.Val3076Ala) c.9380T>C (p.Val3127Ala) c.8285T>C (p.Val2762Ala) c.4469T>C (p.Val1490Ala) c.4022T>C (p.Val1341Ala) c.3359T>C (p.Val1120Ala) c.7874T>C (p.Val2625Ala) | |
| 5 | g.13776540A>T | CA359208616 | DNAH5 | c.9272T>A (p.Val3091Glu) c.9227T>A (p.Val3076Glu) c.9380T>A (p.Val3127Glu) c.8285T>A (p.Val2762Glu) c.4469T>A (p.Val1490Glu) c.4022T>A (p.Val1341Glu) c.3359T>A (p.Val1120Glu) c.7874T>A (p.Val2625Glu) | |
| 5 | g.13776540dup | CA1073394358 | DNAH5 | c.9272dup (p.Glu3093GlyfsTer20) c.9227dup (p.Glu3078GlyfsTer20) c.9380dup (p.Glu3129GlyfsTer20) c.8285dup (p.Glu2764GlyfsTer20) c.4469dup (p.Glu1492GlyfsTer20) c.4022dup (p.Glu1343GlyfsTer20) c.3359dup (p.Glu1122GlyfsTer20) c.7874dup (p.Glu2627GlyfsTer20) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13776541C>A | CA359208622 | DNAH5 | c.9271G>T (p.Val3091Leu) c.9226G>T (p.Val3076Leu) c.9379G>T (p.Val3127Leu) c.8284G>T (p.Val2762Leu) c.4468G>T (p.Val1490Leu) c.4021G>T (p.Val1341Leu) c.3358G>T (p.Val1120Leu) c.7873G>T (p.Val2625Leu) | |
| 5 | g.13776541C>G | CA359208625 | DNAH5 | c.9271G>C (p.Val3091Leu) c.9226G>C (p.Val3076Leu) c.9379G>C (p.Val3127Leu) c.8284G>C (p.Val2762Leu) c.4468G>C (p.Val1490Leu) c.4021G>C (p.Val1341Leu) c.3358G>C (p.Val1120Leu) c.7873G>C (p.Val2625Leu) | |
| 5 | g.13776541C>T | CA359208630 | DNAH5 | c.9271G>A (p.Val3091Met) c.9226G>A (p.Val3076Met) c.9379G>A (p.Val3127Met) c.8284G>A (p.Val2762Met) c.4468G>A (p.Val1490Met) c.4021G>A (p.Val1341Met) c.3358G>A (p.Val1120Met) c.7873G>A (p.Val2625Met) | |
| 5 | g.13776542T>A | CA443535856 | DNAH5 | c.9270A>T (p.Pro3090=) c.9225A>T (p.Pro3075=) c.9378A>T (p.Pro3126=) c.8283A>T (p.Pro2761=) c.4467A>T (p.Pro1489=) c.4020A>T (p.Pro1340=) c.3357A>T (p.Pro1119=) c.7872A>T (p.Pro2624=) | |
| 5 | g.13776542T>C | CA443535858 | DNAH5 | c.9270A>G (p.Pro3090=) c.9225A>G (p.Pro3075=) c.9378A>G (p.Pro3126=) c.8283A>G (p.Pro2761=) c.4467A>G (p.Pro1489=) c.4020A>G (p.Pro1340=) c.3357A>G (p.Pro1119=) c.7872A>G (p.Pro2624=) | ClinVar dbSNP |
| 5 | g.13776542T>G | CA443535857 | DNAH5 | c.9270A>C (p.Pro3090=) c.9225A>C (p.Pro3075=) c.9378A>C (p.Pro3126=) c.8283A>C (p.Pro2761=) c.4467A>C (p.Pro1489=) c.4020A>C (p.Pro1340=) c.3357A>C (p.Pro1119=) c.7872A>C (p.Pro2624=) | |
| 5 | g.13776542T= | CA1528435141 | DNAH5 | c.9270A= (p.Pro3090=) c.9225A= (p.Pro3075=) c.9378A= (p.Pro3126=) c.8283A= (p.Pro2761=) c.4467A= (p.Pro1489=) c.4020A= (p.Pro1340=) c.3357A= (p.Pro1119=) c.7872A= (p.Pro2624=) | |
| 5 | g.13776543G>A | CA359208633 | DNAH5 | c.9269C>T (p.Pro3090Leu) c.9224C>T (p.Pro3075Leu) c.9377C>T (p.Pro3126Leu) c.8282C>T (p.Pro2761Leu) c.4466C>T (p.Pro1489Leu) c.4019C>T (p.Pro1340Leu) c.3356C>T (p.Pro1119Leu) c.7871C>T (p.Pro2624Leu) | |
| 5 | g.13776543G>C | CA359208641 | DNAH5 | c.9269C>G (p.Pro3090Arg) c.9224C>G (p.Pro3075Arg) c.9377C>G (p.Pro3126Arg) c.8282C>G (p.Pro2761Arg) c.4466C>G (p.Pro1489Arg) c.4019C>G (p.Pro1340Arg) c.3356C>G (p.Pro1119Arg) c.7871C>G (p.Pro2624Arg) | |
| 5 | g.13776543G>T | CA359208631 | DNAH5 | c.9269C>A (p.Pro3090Gln) c.9224C>A (p.Pro3075Gln) c.9377C>A (p.Pro3126Gln) c.8282C>A (p.Pro2761Gln) c.4466C>A (p.Pro1489Gln) c.4019C>A (p.Pro1340Gln) c.3356C>A (p.Pro1119Gln) c.7871C>A (p.Pro2624Gln) | |
| 5 | g.13776544G>A | CA359208643 | DNAH5 | c.9268C>T (p.Pro3090Ser) c.9223C>T (p.Pro3075Ser) c.9376C>T (p.Pro3126Ser) c.8281C>T (p.Pro2761Ser) c.4465C>T (p.Pro1489Ser) c.4018C>T (p.Pro1340Ser) c.3355C>T (p.Pro1119Ser) c.7870C>T (p.Pro2624Ser) | gnomAD v4 |
| 5 | g.13776544G>C | CA359208647 | DNAH5 | c.9268C>G (p.Pro3090Ala) c.9223C>G (p.Pro3075Ala) c.9376C>G (p.Pro3126Ala) c.8281C>G (p.Pro2761Ala) c.4465C>G (p.Pro1489Ala) c.4018C>G (p.Pro1340Ala) c.3355C>G (p.Pro1119Ala) c.7870C>G (p.Pro2624Ala) | |
| 5 | g.13776544G>T | CA359208651 | DNAH5 | c.9268C>A (p.Pro3090Thr) c.9223C>A (p.Pro3075Thr) c.9376C>A (p.Pro3126Thr) c.8281C>A (p.Pro2761Thr) c.4465C>A (p.Pro1489Thr) c.4018C>A (p.Pro1340Thr) c.3355C>A (p.Pro1119Thr) c.7870C>A (p.Pro2624Thr) | |
| 5 | g.13776545C>A | CA443535859 | DNAH5 | c.9267G>T (p.Ser3089=) c.9222G>T (p.Ser3074=) c.9375G>T (p.Ser3125=) c.8280G>T (p.Ser2760=) c.4464G>T (p.Ser1488=) c.4017G>T (p.Ser1339=) c.3354G>T (p.Ser1118=) c.7869G>T (p.Ser2623=) | |
| 5 | g.13776545C= | CA1528435143 | DNAH5 | c.9267G= (p.Ser3089=) c.9222G= (p.Ser3074=) c.9375G= (p.Ser3125=) c.8280G= (p.Ser2760=) c.4464G= (p.Ser1488=) c.4017G= (p.Ser1339=) c.3354G= (p.Ser1118=) c.7869G= (p.Ser2623=) | |
| 5 | g.13776545C>G | CA443535860 | DNAH5 | c.9267G>C (p.Ser3089=) c.9222G>C (p.Ser3074=) c.9375G>C (p.Ser3125=) c.8280G>C (p.Ser2760=) c.4464G>C (p.Ser1488=) c.4017G>C (p.Ser1339=) c.3354G>C (p.Ser1118=) c.7869G>C (p.Ser2623=) | |
| 5 | g.13776545C>T | CA3202586 | DNAH5 | c.9267G>A (p.Ser3089=) c.9222G>A (p.Ser3074=) c.9375G>A (p.Ser3125=) c.8280G>A (p.Ser2760=) c.4464G>A (p.Ser1488=) c.4017G>A (p.Ser1339=) c.3354G>A (p.Ser1118=) c.7869G>A (p.Ser2623=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13776546G>A | CA3202587 | DNAH5 | c.9266C>T (p.Ser3089Leu) c.9221C>T (p.Ser3074Leu) c.9374C>T (p.Ser3125Leu) c.8279C>T (p.Ser2760Leu) c.4463C>T (p.Ser1488Leu) c.4016C>T (p.Ser1339Leu) c.3353C>T (p.Ser1118Leu) c.7868C>T (p.Ser2623Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13776546G>C | CA359208667 | DNAH5 | c.9266C>G (p.Ser3089Trp) c.9221C>G (p.Ser3074Trp) c.9374C>G (p.Ser3125Trp) c.8279C>G (p.Ser2760Trp) c.4463C>G (p.Ser1488Trp) c.4016C>G (p.Ser1339Trp) c.3353C>G (p.Ser1118Trp) c.7868C>G (p.Ser2623Trp) | |
| 5 | g.13776546G= | CA1528435146 | DNAH5 | c.9266C= (p.Ser3089=) c.9221C= (p.Ser3074=) c.9374C= (p.Ser3125=) c.8279C= (p.Ser2760=) c.4463C= (p.Ser1488=) c.4016C= (p.Ser1339=) c.3353C= (p.Ser1118=) c.7868C= (p.Ser2623=) | |
| 5 | g.13776546G>T | CA359208670 | DNAH5 | c.9266C>A (p.Ser3089Ter) c.9221C>A (p.Ser3074Ter) c.9374C>A (p.Ser3125Ter) c.8279C>A (p.Ser2760Ter) c.4463C>A (p.Ser1488Ter) c.4016C>A (p.Ser1339Ter) c.3353C>A (p.Ser1118Ter) c.7868C>A (p.Ser2623Ter) | |
| 5 | g.13776547A>C | CA359208671 | DNAH5 | c.9265T>G (p.Ser3089Ala) c.9220T>G (p.Ser3074Ala) c.9373T>G (p.Ser3125Ala) c.8278T>G (p.Ser2760Ala) c.4462T>G (p.Ser1488Ala) c.4015T>G (p.Ser1339Ala) c.3352T>G (p.Ser1118Ala) c.7867T>G (p.Ser2623Ala) | |
| 5 | g.13776547A>G | CA359208672 | DNAH5 | c.9265T>C (p.Ser3089Pro) c.9220T>C (p.Ser3074Pro) c.9373T>C (p.Ser3125Pro) c.8278T>C (p.Ser2760Pro) c.4462T>C (p.Ser1488Pro) c.4015T>C (p.Ser1339Pro) c.3352T>C (p.Ser1118Pro) c.7867T>C (p.Ser2623Pro) | |
| 5 | g.13776547A>T | CA359208674 | DNAH5 | c.9265T>A (p.Ser3089Thr) c.9220T>A (p.Ser3074Thr) c.9373T>A (p.Ser3125Thr) c.8278T>A (p.Ser2760Thr) c.4462T>A (p.Ser1488Thr) c.4015T>A (p.Ser1339Thr) c.3352T>A (p.Ser1118Thr) c.7867T>A (p.Ser2623Thr) | |
| 5 | g.13776548G>A | CA443535865 | DNAH5 | c.9264C>T (p.Phe3088=) c.9219C>T (p.Phe3073=) c.9372C>T (p.Phe3124=) c.8277C>T (p.Phe2759=) c.4461C>T (p.Phe1487=) c.4014C>T (p.Phe1338=) c.3351C>T (p.Phe1117=) c.7866C>T (p.Phe2622=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776548G>C | CA359208679 | DNAH5 | c.9264C>G (p.Phe3088Leu) c.9219C>G (p.Phe3073Leu) c.9372C>G (p.Phe3124Leu) c.8277C>G (p.Phe2759Leu) c.4461C>G (p.Phe1487Leu) c.4014C>G (p.Phe1338Leu) c.3351C>G (p.Phe1117Leu) c.7866C>G (p.Phe2622Leu) | gnomAD v4 |
| 5 | g.13776548G= | CA1528435149 | DNAH5 | c.9264C= (p.Phe3088=) c.9219C= (p.Phe3073=) c.9372C= (p.Phe3124=) c.8277C= (p.Phe2759=) c.4461C= (p.Phe1487=) c.4014C= (p.Phe1338=) c.3351C= (p.Phe1117=) c.7866C= (p.Phe2622=) | |
| 5 | g.13776548G>T | CA359208681 | DNAH5 | c.9264C>A (p.Phe3088Leu) c.9219C>A (p.Phe3073Leu) c.9372C>A (p.Phe3124Leu) c.8277C>A (p.Phe2759Leu) c.4461C>A (p.Phe1487Leu) c.4014C>A (p.Phe1338Leu) c.3351C>A (p.Phe1117Leu) c.7866C>A (p.Phe2622Leu) | |
| 5 | g.13776549A>C | CA359208688 | DNAH5 | c.9263T>G (p.Phe3088Cys) c.9218T>G (p.Phe3073Cys) c.9371T>G (p.Phe3124Cys) c.8276T>G (p.Phe2759Cys) c.4460T>G (p.Phe1487Cys) c.4013T>G (p.Phe1338Cys) c.3350T>G (p.Phe1117Cys) c.7865T>G (p.Phe2622Cys) | gnomAD v4 |
| 5 | g.13776549A>G | CA359208693 | DNAH5 | c.9263T>C (p.Phe3088Ser) c.9218T>C (p.Phe3073Ser) c.9371T>C (p.Phe3124Ser) c.8276T>C (p.Phe2759Ser) c.4460T>C (p.Phe1487Ser) c.4013T>C (p.Phe1338Ser) c.3350T>C (p.Phe1117Ser) c.7865T>C (p.Phe2622Ser) | |
| 5 | g.13776549A>T | CA359208685 | DNAH5 | c.9263T>A (p.Phe3088Tyr) c.9218T>A (p.Phe3073Tyr) c.9371T>A (p.Phe3124Tyr) c.8276T>A (p.Phe2759Tyr) c.4460T>A (p.Phe1487Tyr) c.4013T>A (p.Phe1338Tyr) c.3350T>A (p.Phe1117Tyr) c.7865T>A (p.Phe2622Tyr) | |
| 5 | g.13776550A>C | CA359208698 | DNAH5 | c.9262T>G (p.Phe3088Val) c.9217T>G (p.Phe3073Val) c.9370T>G (p.Phe3124Val) c.8275T>G (p.Phe2759Val) c.4459T>G (p.Phe1487Val) c.4012T>G (p.Phe1338Val) c.3349T>G (p.Phe1117Val) c.7864T>G (p.Phe2622Val) | gnomAD v4 |
| 5 | g.13776550A>G | CA359208702 | DNAH5 | c.9262T>C (p.Phe3088Leu) c.9217T>C (p.Phe3073Leu) c.9370T>C (p.Phe3124Leu) c.8275T>C (p.Phe2759Leu) c.4459T>C (p.Phe1487Leu) c.4012T>C (p.Phe1338Leu) c.3349T>C (p.Phe1117Leu) c.7864T>C (p.Phe2622Leu) | gnomAD v4 |
| 5 | g.13776550A>T | CA359208705 | DNAH5 | c.9262T>A (p.Phe3088Ile) c.9217T>A (p.Phe3073Ile) c.9370T>A (p.Phe3124Ile) c.8275T>A (p.Phe2759Ile) c.4459T>A (p.Phe1487Ile) c.4012T>A (p.Phe1338Ile) c.3349T>A (p.Phe1117Ile) c.7864T>A (p.Phe2622Ile) | |
| 5 | g.13776551G>A | CA443535871 | DNAH5 | c.9261C>T (p.Cys3087=) c.9216C>T (p.Cys3072=) c.9369C>T (p.Cys3123=) c.8274C>T (p.Cys2758=) c.4458C>T (p.Cys1486=) c.4011C>T (p.Cys1337=) c.3348C>T (p.Cys1116=) c.7863C>T (p.Cys2621=) | |
| 5 | g.13776551G>C | CA359208706 | DNAH5 | c.9261C>G (p.Cys3087Trp) c.9216C>G (p.Cys3072Trp) c.9369C>G (p.Cys3123Trp) c.8274C>G (p.Cys2758Trp) c.4458C>G (p.Cys1486Trp) c.4011C>G (p.Cys1337Trp) c.3348C>G (p.Cys1116Trp) c.7863C>G (p.Cys2621Trp) | |
| 5 | g.13776551G>T | CA359208707 | DNAH5 | c.9261C>A (p.Cys3087Ter) c.9216C>A (p.Cys3072Ter) c.9369C>A (p.Cys3123Ter) c.8274C>A (p.Cys2758Ter) c.4458C>A (p.Cys1486Ter) c.4011C>A (p.Cys1337Ter) c.3348C>A (p.Cys1116Ter) c.7863C>A (p.Cys2621Ter) | |
| 5 | g.13776552C>A | CA359208710 | DNAH5 | c.9260G>T (p.Cys3087Phe) c.9215G>T (p.Cys3072Phe) c.9368G>T (p.Cys3123Phe) c.8273G>T (p.Cys2758Phe) c.4457G>T (p.Cys1486Phe) c.4010G>T (p.Cys1337Phe) c.3347G>T (p.Cys1116Phe) c.7862G>T (p.Cys2621Phe) | |
| 5 | g.13776552C>G | CA359208708 | DNAH5 | c.9260G>C (p.Cys3087Ser) c.9215G>C (p.Cys3072Ser) c.9368G>C (p.Cys3123Ser) c.8273G>C (p.Cys2758Ser) c.4457G>C (p.Cys1486Ser) c.4010G>C (p.Cys1337Ser) c.3347G>C (p.Cys1116Ser) c.7862G>C (p.Cys2621Ser) | |
| 5 | g.13776552C>T | CA359208709 | DNAH5 | c.9260G>A (p.Cys3087Tyr) c.9215G>A (p.Cys3072Tyr) c.9368G>A (p.Cys3123Tyr) c.8273G>A (p.Cys2758Tyr) c.4457G>A (p.Cys1486Tyr) c.4010G>A (p.Cys1337Tyr) c.3347G>A (p.Cys1116Tyr) c.7862G>A (p.Cys2621Tyr) | ClinVar gnomAD v4 |
| 5 | g.13776553A>C | CA359208712 | DNAH5 | c.9259T>G (p.Cys3087Gly) c.9214T>G (p.Cys3072Gly) c.9367T>G (p.Cys3123Gly) c.8272T>G (p.Cys2758Gly) c.4456T>G (p.Cys1486Gly) c.4009T>G (p.Cys1337Gly) c.3346T>G (p.Cys1116Gly) c.7861T>G (p.Cys2621Gly) | |
| 5 | g.13776553A>G | CA359208718 | DNAH5 | c.9259T>C (p.Cys3087Arg) c.9214T>C (p.Cys3072Arg) c.9367T>C (p.Cys3123Arg) c.8272T>C (p.Cys2758Arg) c.4456T>C (p.Cys1486Arg) c.4009T>C (p.Cys1337Arg) c.3346T>C (p.Cys1116Arg) c.7861T>C (p.Cys2621Arg) | |
| 5 | g.13776553A>T | CA359208729 | DNAH5 | c.9259T>A (p.Cys3087Ser) c.9214T>A (p.Cys3072Ser) c.9367T>A (p.Cys3123Ser) c.8272T>A (p.Cys2758Ser) c.4456T>A (p.Cys1486Ser) c.4009T>A (p.Cys1337Ser) c.3346T>A (p.Cys1116Ser) c.7861T>A (p.Cys2621Ser) | |
| 5 | g.13776554G>A | CA443535873 | DNAH5 | c.9258C>T (p.Leu3086=) c.9213C>T (p.Leu3071=) c.9366C>T (p.Leu3122=) c.8271C>T (p.Leu2757=) c.4455C>T (p.Leu1485=) c.4008C>T (p.Leu1336=) c.3345C>T (p.Leu1115=) c.7860C>T (p.Leu2620=) | ClinVar gnomAD v4 |
| 5 | g.13776554G>C | CA443535874 | DNAH5 | c.9258C>G (p.Leu3086=) c.9213C>G (p.Leu3071=) c.9366C>G (p.Leu3122=) c.8271C>G (p.Leu2757=) c.4455C>G (p.Leu1485=) c.4008C>G (p.Leu1336=) c.3345C>G (p.Leu1115=) c.7860C>G (p.Leu2620=) | |
| 5 | g.13776554G>T | CA443535875 | DNAH5 | c.9258C>A (p.Leu3086=) c.9213C>A (p.Leu3071=) c.9366C>A (p.Leu3122=) c.8271C>A (p.Leu2757=) c.4455C>A (p.Leu1485=) c.4008C>A (p.Leu1336=) c.3345C>A (p.Leu1115=) c.7860C>A (p.Leu2620=) | |
| 5 | g.13776555A>C | CA359208735 | DNAH5 | c.9257T>G (p.Leu3086Arg) c.9212T>G (p.Leu3071Arg) c.9365T>G (p.Leu3122Arg) c.8270T>G (p.Leu2757Arg) c.4454T>G (p.Leu1485Arg) c.4007T>G (p.Leu1336Arg) c.3344T>G (p.Leu1115Arg) c.7859T>G (p.Leu2620Arg) | |
| 5 | g.13776555A>G | CA359208737 | DNAH5 | c.9257T>C (p.Leu3086Pro) c.9212T>C (p.Leu3071Pro) c.9365T>C (p.Leu3122Pro) c.8270T>C (p.Leu2757Pro) c.4454T>C (p.Leu1485Pro) c.4007T>C (p.Leu1336Pro) c.3344T>C (p.Leu1115Pro) c.7859T>C (p.Leu2620Pro) | |
| 5 | g.13776555A>T | CA359208740 | DNAH5 | c.9257T>A (p.Leu3086His) c.9212T>A (p.Leu3071His) c.9365T>A (p.Leu3122His) c.8270T>A (p.Leu2757His) c.4454T>A (p.Leu1485His) c.4007T>A (p.Leu1336His) c.3344T>A (p.Leu1115His) c.7859T>A (p.Leu2620His) | |
| 5 | g.13776556G>A | CA359208751 | DNAH5 | c.9256C>T (p.Leu3086Phe) c.9211C>T (p.Leu3071Phe) c.9364C>T (p.Leu3122Phe) c.8269C>T (p.Leu2757Phe) c.4453C>T (p.Leu1485Phe) c.4006C>T (p.Leu1336Phe) c.3343C>T (p.Leu1115Phe) c.7858C>T (p.Leu2620Phe) | COSMIC |
| 5 | g.13776556G>C | CA359208749 | DNAH5 | c.9256C>G (p.Leu3086Val) c.9211C>G (p.Leu3071Val) c.9364C>G (p.Leu3122Val) c.8269C>G (p.Leu2757Val) c.4453C>G (p.Leu1485Val) c.4006C>G (p.Leu1336Val) c.3343C>G (p.Leu1115Val) c.7858C>G (p.Leu2620Val) | |
| 5 | g.13776556G>T | CA359208746 | DNAH5 | c.9256C>A (p.Leu3086Ile) c.9211C>A (p.Leu3071Ile) c.9364C>A (p.Leu3122Ile) c.8269C>A (p.Leu2757Ile) c.4453C>A (p.Leu1485Ile) c.4006C>A (p.Leu1336Ile) c.3343C>A (p.Leu1115Ile) c.7858C>A (p.Leu2620Ile) | |
| 5 | g.13776557C>A | CA443535879 | DNAH5 | c.9255G>T (p.Val3085=) c.9210G>T (p.Val3070=) c.9363G>T (p.Val3121=) c.8268G>T (p.Val2756=) c.4452G>T (p.Val1484=) c.4005G>T (p.Val1335=) c.3342G>T (p.Val1114=) c.7857G>T (p.Val2619=) | |
| 5 | g.13776557C= | CA1528435153 | DNAH5 | c.9255G= (p.Val3085=) c.9210G= (p.Val3070=) c.9363G= (p.Val3121=) c.8268G= (p.Val2756=) c.4452G= (p.Val1484=) c.4005G= (p.Val1335=) c.3342G= (p.Val1114=) c.7857G= (p.Val2619=) | |
| 5 | g.13776557C>G | CA443535881 | DNAH5 | c.9255G>C (p.Val3085=) c.9210G>C (p.Val3070=) c.9363G>C (p.Val3121=) c.8268G>C (p.Val2756=) c.4452G>C (p.Val1484=) c.4005G>C (p.Val1335=) c.3342G>C (p.Val1114=) c.7857G>C (p.Val2619=) | |
| 5 | g.13776557C>T | CA443535882 | DNAH5 | c.9255G>A (p.Val3085=) c.9210G>A (p.Val3070=) c.9363G>A (p.Val3121=) c.8268G>A (p.Val2756=) c.4452G>A (p.Val1484=) c.4005G>A (p.Val1335=) c.3342G>A (p.Val1114=) c.7857G>A (p.Val2619=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776558A>C | CA359208755 | DNAH5 | c.9254T>G (p.Val3085Gly) c.9209T>G (p.Val3070Gly) c.9362T>G (p.Val3121Gly) c.8267T>G (p.Val2756Gly) c.4451T>G (p.Val1484Gly) c.4004T>G (p.Val1335Gly) c.3341T>G (p.Val1114Gly) c.7856T>G (p.Val2619Gly) | |
| 5 | g.13776558A>G | CA359208754 | DNAH5 | c.9254T>C (p.Val3085Ala) c.9209T>C (p.Val3070Ala) c.9362T>C (p.Val3121Ala) c.8267T>C (p.Val2756Ala) c.4451T>C (p.Val1484Ala) c.4004T>C (p.Val1335Ala) c.3341T>C (p.Val1114Ala) c.7856T>C (p.Val2619Ala) | |
| 5 | g.13776558A>T | CA359208756 | DNAH5 | c.9254T>A (p.Val3085Glu) c.9209T>A (p.Val3070Glu) c.9362T>A (p.Val3121Glu) c.8267T>A (p.Val2756Glu) c.4451T>A (p.Val1484Glu) c.4004T>A (p.Val1335Glu) c.3341T>A (p.Val1114Glu) c.7856T>A (p.Val2619Glu) | |
| 5 | g.13776559C>A | CA359208759 | DNAH5 | c.9253G>T (p.Val3085Leu) c.9208G>T (p.Val3070Leu) c.9361G>T (p.Val3121Leu) c.8266G>T (p.Val2756Leu) c.4450G>T (p.Val1484Leu) c.4003G>T (p.Val1335Leu) c.3340G>T (p.Val1114Leu) c.7855G>T (p.Val2619Leu) | gnomAD v4 |
| 5 | g.13776559C>G | CA359208760 | DNAH5 | c.9253G>C (p.Val3085Leu) c.9208G>C (p.Val3070Leu) c.9361G>C (p.Val3121Leu) c.8266G>C (p.Val2756Leu) c.4450G>C (p.Val1484Leu) c.4003G>C (p.Val1335Leu) c.3340G>C (p.Val1114Leu) c.7855G>C (p.Val2619Leu) | |
| 5 | g.13776559C>T | CA359208762 | DNAH5 | c.9253G>A (p.Val3085Met) c.9208G>A (p.Val3070Met) c.9361G>A (p.Val3121Met) c.8266G>A (p.Val2756Met) c.4450G>A (p.Val1484Met) c.4003G>A (p.Val1335Met) c.3340G>A (p.Val1114Met) c.7855G>A (p.Val2619Met) | |
| 5 | g.13776560A= | CA1528435159 | DNAH5 | c.9252T= (p.Ile3084=) c.9207T= (p.Ile3069=) c.9360T= (p.Ile3120=) c.8265T= (p.Ile2755=) c.4449T= (p.Ile1483=) c.4002T= (p.Ile1334=) c.3339T= (p.Ile1113=) c.7854T= (p.Ile2618=) | |
| 5 | g.13776560A>C | CA359208763 | DNAH5 | c.9252T>G (p.Ile3084Met) c.9207T>G (p.Ile3069Met) c.9360T>G (p.Ile3120Met) c.8265T>G (p.Ile2755Met) c.4449T>G (p.Ile1483Met) c.4002T>G (p.Ile1334Met) c.3339T>G (p.Ile1113Met) c.7854T>G (p.Ile2618Met) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13776560A>G | CA443535595 | DNAH5 | c.9252T>C (p.Ile3084=) c.9207T>C (p.Ile3069=) c.9360T>C (p.Ile3120=) c.8265T>C (p.Ile2755=) c.4449T>C (p.Ile1483=) c.4002T>C (p.Ile1334=) c.3339T>C (p.Ile1113=) c.7854T>C (p.Ile2618=) | gnomAD v4 |
| 5 | g.13776560A>T | CA443535596 | DNAH5 | c.9252T>A (p.Ile3084=) c.9207T>A (p.Ile3069=) c.9360T>A (p.Ile3120=) c.8265T>A (p.Ile2755=) c.4449T>A (p.Ile1483=) c.4002T>A (p.Ile1334=) c.3339T>A (p.Ile1113=) c.7854T>A (p.Ile2618=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13776561A>C | CA359208766 | DNAH5 | c.9251T>G (p.Ile3084Ser) c.9206T>G (p.Ile3069Ser) c.9359T>G (p.Ile3120Ser) c.8264T>G (p.Ile2755Ser) c.4448T>G (p.Ile1483Ser) c.4001T>G (p.Ile1334Ser) c.3338T>G (p.Ile1113Ser) c.7853T>G (p.Ile2618Ser) | |
| 5 | g.13776561A>G | CA359208769 | DNAH5 | c.9251T>C (p.Ile3084Thr) c.9206T>C (p.Ile3069Thr) c.9359T>C (p.Ile3120Thr) c.8264T>C (p.Ile2755Thr) c.4448T>C (p.Ile1483Thr) c.4001T>C (p.Ile1334Thr) c.3338T>C (p.Ile1113Thr) c.7853T>C (p.Ile2618Thr) | |
| 5 | g.13776561A>T | CA359208772 | DNAH5 | c.9251T>A (p.Ile3084Asn) c.9206T>A (p.Ile3069Asn) c.9359T>A (p.Ile3120Asn) c.8264T>A (p.Ile2755Asn) c.4448T>A (p.Ile1483Asn) c.4001T>A (p.Ile1334Asn) c.3338T>A (p.Ile1113Asn) c.7853T>A (p.Ile2618Asn) |