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.13735113C>A | CA2673267921 | DNAH5 | c.11761+18G>T (n.11761+18G>T) c.11716+18G>T (n.11716+18G>T) c.11869+18G>T (n.11869+18G>T) c.10774+18G>T (n.10774+18G>T) c.6958+18G>T (n.6958+18G>T) c.6511+18G>T (n.6511+18G>T) c.5848+18G>T (n.5848+18G>T) c.10363+18G>T (n.10363+18G>T) | gnomAD v4 |
| 5 | g.13735114T>G | CA2673267922 | DNAH5 | c.11761+17A>C (n.11761+17A>C) c.11716+17A>C (n.11716+17A>C) c.11869+17A>C (n.11869+17A>C) c.10774+17A>C (n.10774+17A>C) c.6958+17A>C (n.6958+17A>C) c.6511+17A>C (n.6511+17A>C) c.5848+17A>C (n.5848+17A>C) c.10363+17A>C (n.10363+17A>C) | gnomAD v4 |
| 5 | g.13735117A>T | CA2673267923 | DNAH5 | c.11761+14T>A (n.11761+14T>A) c.11716+14T>A (n.11716+14T>A) c.11869+14T>A (n.11869+14T>A) c.10774+14T>A (n.10774+14T>A) c.6958+14T>A (n.6958+14T>A) c.6511+14T>A (n.6511+14T>A) c.5848+14T>A (n.5848+14T>A) c.10363+14T>A (n.10363+14T>A) | gnomAD v4 |
| 5 | g.13735118T>C | CA2673267924 | DNAH5 | c.11761+13A>G (n.11761+13A>G) c.11716+13A>G (n.11716+13A>G) c.11869+13A>G (n.11869+13A>G) c.10774+13A>G (n.10774+13A>G) c.6958+13A>G (n.6958+13A>G) c.6511+13A>G (n.6511+13A>G) c.5848+13A>G (n.5848+13A>G) c.10363+13A>G (n.10363+13A>G) | gnomAD v4 |
| 5 | g.13735120C= | CA1528414797 | DNAH5 | c.11761+11G= (n.11761+11G=) c.11716+11G= (n.11716+11G=) c.11869+11G= (n.11869+11G=) c.10774+11G= (n.10774+11G=) c.6958+11G= (n.6958+11G=) c.6511+11G= (n.6511+11G=) c.5848+11G= (n.5848+11G=) c.10363+11G= (n.10363+11G=) | |
| 5 | g.13735120C>T | CA3201859 | DNAH5 | c.11761+11G>A (n.11761+11G>A) c.11716+11G>A (n.11716+11G>A) c.11869+11G>A (n.11869+11G>A) c.10774+11G>A (n.10774+11G>A) c.6958+11G>A (n.6958+11G>A) c.6511+11G>A (n.6511+11G>A) c.5848+11G>A (n.5848+11G>A) c.10363+11G>A (n.10363+11G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13735121T>C | CA2673267925 | DNAH5 | c.11761+10A>G (n.11761+10A>G) c.11716+10A>G (n.11716+10A>G) c.11869+10A>G (n.11869+10A>G) c.10774+10A>G (n.10774+10A>G) c.6958+10A>G (n.6958+10A>G) c.6511+10A>G (n.6511+10A>G) c.5848+10A>G (n.5848+10A>G) c.10363+10A>G (n.10363+10A>G) | gnomAD v4 |
| 5 | g.13735122T>C | CA3201860 | DNAH5 | c.11761+9A>G (n.11761+9A>G) c.11716+9A>G (n.11716+9A>G) c.11869+9A>G (n.11869+9A>G) c.10774+9A>G (n.10774+9A>G) c.6958+9A>G (n.6958+9A>G) c.6511+9A>G (n.6511+9A>G) c.5848+9A>G (n.5848+9A>G) c.10363+9A>G (n.10363+9A>G) | dbSNP ExAC gnomAD v2 |
| 5 | g.13735122T= | CA1528414798 | DNAH5 | c.11761+9A= (n.11761+9A=) c.11716+9A= (n.11716+9A=) c.11869+9A= (n.11869+9A=) c.10774+9A= (n.10774+9A=) c.6958+9A= (n.6958+9A=) c.6511+9A= (n.6511+9A=) c.5848+9A= (n.5848+9A=) c.10363+9A= (n.10363+9A=) | |
| 5 | g.13735124T>C | CA557876480 | DNAH5 | c.11761+7A>G (n.11761+7A>G) c.11716+7A>G (n.11716+7A>G) c.11869+7A>G (n.11869+7A>G) c.10774+7A>G (n.10774+7A>G) c.6958+7A>G (n.6958+7A>G) c.6511+7A>G (n.6511+7A>G) c.5848+7A>G (n.5848+7A>G) c.10363+7A>G (n.10363+7A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13735124T= | CA1528414799 | DNAH5 | c.11761+7A= (n.11761+7A=) c.11716+7A= (n.11716+7A=) c.11869+7A= (n.11869+7A=) c.10774+7A= (n.10774+7A=) c.6958+7A= (n.6958+7A=) c.6511+7A= (n.6511+7A=) c.5848+7A= (n.5848+7A=) c.10363+7A= (n.10363+7A=) | |
| 5 | g.13735125A= | CA1528414800 | DNAH5 | c.11761+6T= (n.11761+6T=) c.11716+6T= (n.11716+6T=) c.11869+6T= (n.11869+6T=) c.10774+6T= (n.10774+6T=) c.6958+6T= (n.6958+6T=) c.6511+6T= (n.6511+6T=) c.5848+6T= (n.5848+6T=) c.10363+6T= (n.10363+6T=) | |
| 5 | g.13735125A>G | CA557876481 | DNAH5 | c.11761+6T>C (n.11761+6T>C) c.11716+6T>C (n.11716+6T>C) c.11869+6T>C (n.11869+6T>C) c.10774+6T>C (n.10774+6T>C) c.6958+6T>C (n.6958+6T>C) c.6511+6T>C (n.6511+6T>C) c.5848+6T>C (n.5848+6T>C) c.10363+6T>C (n.10363+6T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13735126T>C | CA3201861 | DNAH5 | c.11761+5A>G (n.11761+5A>G) c.11716+5A>G (n.11716+5A>G) c.11869+5A>G (n.11869+5A>G) c.10774+5A>G (n.10774+5A>G) c.6958+5A>G (n.6958+5A>G) c.6511+5A>G (n.6511+5A>G) c.5848+5A>G (n.5848+5A>G) c.10363+5A>G (n.10363+5A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735126T>G | CA804426018 | DNAH5 | c.11761+5A>C (n.11761+5A>C) c.11716+5A>C (n.11716+5A>C) c.11869+5A>C (n.11869+5A>C) c.10774+5A>C (n.10774+5A>C) c.6958+5A>C (n.6958+5A>C) c.6511+5A>C (n.6511+5A>C) c.5848+5A>C (n.5848+5A>C) c.10363+5A>C (n.10363+5A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13735126T= | CA1528414801 | DNAH5 | c.11761+5A= (n.11761+5A=) c.11716+5A= (n.11716+5A=) c.11869+5A= (n.11869+5A=) c.10774+5A= (n.10774+5A=) c.6958+5A= (n.6958+5A=) c.6511+5A= (n.6511+5A=) c.5848+5A= (n.5848+5A=) c.10363+5A= (n.10363+5A=) | |
| 5 | g.13735128G>A | CA2578269731 | DNAH5 | c.11761+3C>T (n.11761+3C>T) c.11716+3C>T (n.11716+3C>T) c.11869+3C>T (n.11869+3C>T) c.10774+3C>T (n.10774+3C>T) c.6958+3C>T (n.6958+3C>T) c.6511+3C>T (n.6511+3C>T) c.5848+3C>T (n.5848+3C>T) c.10363+3C>T (n.10363+3C>T) | gnomAD v4 |
| 5 | g.13735128G>C | CA2740617118 | DNAH5 | c.11761+3C>G (n.11761+3C>G) c.11716+3C>G (n.11716+3C>G) c.11869+3C>G (n.11869+3C>G) c.10774+3C>G (n.10774+3C>G) c.6958+3C>G (n.6958+3C>G) c.6511+3C>G (n.6511+3C>G) c.5848+3C>G (n.5848+3C>G) c.10363+3C>G (n.10363+3C>G) | |
| 5 | g.13735129A>C | CA359222400 | DNAH5 | c.11761+2T>G (n.11761+2T>G) c.11716+2T>G (n.11716+2T>G) c.11869+2T>G (n.11869+2T>G) c.10774+2T>G (n.10774+2T>G) c.6958+2T>G (n.6958+2T>G) c.6511+2T>G (n.6511+2T>G) c.5848+2T>G (n.5848+2T>G) c.10363+2T>G (n.10363+2T>G) | |
| 5 | g.13735129A>G | CA359222398 | DNAH5 | c.11761+2T>C (n.11761+2T>C) c.11716+2T>C (n.11716+2T>C) c.11869+2T>C (n.11869+2T>C) c.10774+2T>C (n.10774+2T>C) c.6958+2T>C (n.6958+2T>C) c.6511+2T>C (n.6511+2T>C) c.5848+2T>C (n.5848+2T>C) c.10363+2T>C (n.10363+2T>C) | |
| 5 | g.13735129A>T | CA359222399 | DNAH5 | c.11761+2T>A (n.11761+2T>A) c.11716+2T>A (n.11716+2T>A) c.11869+2T>A (n.11869+2T>A) c.10774+2T>A (n.10774+2T>A) c.6958+2T>A (n.6958+2T>A) c.6511+2T>A (n.6511+2T>A) c.5848+2T>A (n.5848+2T>A) c.10363+2T>A (n.10363+2T>A) | ClinVar dbSNP |
| 5 | g.13735130C>A | CA359222418 | DNAH5 | c.11761+1G>T (n.11761+1G>T) c.11716+1G>T (n.11716+1G>T) c.11869+1G>T (n.11869+1G>T) c.10774+1G>T (n.10774+1G>T) c.6958+1G>T (n.6958+1G>T) c.6511+1G>T (n.6511+1G>T) c.5848+1G>T (n.5848+1G>T) c.10363+1G>T (n.10363+1G>T) | |
| 5 | g.13735130C>G | CA359222419 | DNAH5 | c.11761+1G>C (n.11761+1G>C) c.11716+1G>C (n.11716+1G>C) c.11869+1G>C (n.11869+1G>C) c.10774+1G>C (n.10774+1G>C) c.6958+1G>C (n.6958+1G>C) c.6511+1G>C (n.6511+1G>C) c.5848+1G>C (n.5848+1G>C) c.10363+1G>C (n.10363+1G>C) | |
| 5 | g.13735130C>T | CA359222420 | DNAH5 | c.11761+1G>A (n.11761+1G>A) c.11716+1G>A (n.11716+1G>A) c.11869+1G>A (n.11869+1G>A) c.10774+1G>A (n.10774+1G>A) c.6958+1G>A (n.6958+1G>A) c.6511+1G>A (n.6511+1G>A) c.5848+1G>A (n.5848+1G>A) c.10363+1G>A (n.10363+1G>A) | |
| 5 | g.13735131del | CA443259965 | DNAH5 | c.11761+1del c.11716+1del c.11869+1del c.10774+1del c.6958+1del c.6511+1del c.5848+1del c.10363+1del | COSMIC |
| 5 | g.13735131C>A | CA359222421 | DNAH5 | c.11761G>T (p.Gly3921Ter) c.11716G>T (p.Gly3906Ter) c.11869G>T (p.Gly3957Ter) c.10774G>T (p.Gly3592Ter) c.11869G>T (p.Asp3957Tyr) c.6958G>T (p.Gly2320Ter) c.6511G>T (p.Gly2171Ter) c.5848G>T (p.Gly1950Ter) c.10363G>T (p.Gly3455Ter) | |
| 5 | g.13735131C>G | CA359222422 | DNAH5 | c.11761G>C (p.Gly3921Arg) c.11716G>C (p.Gly3906Arg) c.11869G>C (p.Gly3957Arg) c.10774G>C (p.Gly3592Arg) c.11869G>C (p.Asp3957His) c.6958G>C (p.Gly2320Arg) c.6511G>C (p.Gly2171Arg) c.5848G>C (p.Gly1950Arg) c.10363G>C (p.Gly3455Arg) | ClinVar dbSNP |
| 5 | g.13735131C>T | CA359222423 | DNAH5 | c.11761G>A (p.Gly3921Arg) c.11716G>A (p.Gly3906Arg) c.11869G>A (p.Gly3957Arg) c.10774G>A (p.Gly3592Arg) c.11869G>A (p.Asp3957Asn) c.6958G>A (p.Gly2320Arg) c.6511G>A (p.Gly2171Arg) c.5848G>A (p.Gly1950Arg) c.10363G>A (p.Gly3455Arg) | |
| 5 | g.13735132T>A | CA359222426 | DNAH5 | c.11760A>T (p.Lys3920Asn) c.11715A>T (p.Lys3905Asn) c.11868A>T (p.Lys3956Asn) c.10773A>T (p.Lys3591Asn) c.6957A>T (p.Lys2319Asn) c.6510A>T (p.Lys2170Asn) c.5847A>T (p.Lys1949Asn) c.10362A>T (p.Lys3454Asn) | |
| 5 | g.13735132T>C | CA443259966 | DNAH5 | c.11760A>G (p.Lys3920=) c.11715A>G (p.Lys3905=) c.11868A>G (p.Lys3956=) c.10773A>G (p.Lys3591=) c.6957A>G (p.Lys2319=) c.6510A>G (p.Lys2170=) c.5847A>G (p.Lys1949=) c.10362A>G (p.Lys3454=) | |
| 5 | g.13735132T>G | CA359222429 | DNAH5 | c.11760A>C (p.Lys3920Asn) c.11715A>C (p.Lys3905Asn) c.11868A>C (p.Lys3956Asn) c.10773A>C (p.Lys3591Asn) c.6957A>C (p.Lys2319Asn) c.6510A>C (p.Lys2170Asn) c.5847A>C (p.Lys1949Asn) c.10362A>C (p.Lys3454Asn) | |
| 5 | g.13735133T>A | CA359222431 | DNAH5 | c.11759A>T (p.Lys3920Ile) c.11714A>T (p.Lys3905Ile) c.11867A>T (p.Lys3956Ile) c.10772A>T (p.Lys3591Ile) c.6956A>T (p.Lys2319Ile) c.6509A>T (p.Lys2170Ile) c.5846A>T (p.Lys1949Ile) c.10361A>T (p.Lys3454Ile) | |
| 5 | g.13735133T>C | CA359222432 | DNAH5 | c.11759A>G (p.Lys3920Arg) c.11714A>G (p.Lys3905Arg) c.11867A>G (p.Lys3956Arg) c.10772A>G (p.Lys3591Arg) c.6956A>G (p.Lys2319Arg) c.6509A>G (p.Lys2170Arg) c.5846A>G (p.Lys1949Arg) c.10361A>G (p.Lys3454Arg) | |
| 5 | g.13735133T>G | CA359222434 | DNAH5 | c.11759A>C (p.Lys3920Thr) c.11714A>C (p.Lys3905Thr) c.11867A>C (p.Lys3956Thr) c.10772A>C (p.Lys3591Thr) c.6956A>C (p.Lys2319Thr) c.6509A>C (p.Lys2170Thr) c.5846A>C (p.Lys1949Thr) c.10361A>C (p.Lys3454Thr) | COSMIC |
| 5 | g.13735134T>A | CA359222439 | DNAH5 | c.11758A>T (p.Lys3920Ter) c.11713A>T (p.Lys3905Ter) c.11866A>T (p.Lys3956Ter) c.10771A>T (p.Lys3591Ter) c.6955A>T (p.Lys2319Ter) c.6508A>T (p.Lys2170Ter) c.5845A>T (p.Lys1949Ter) c.10360A>T (p.Lys3454Ter) | |
| 5 | g.13735134T>C | CA359222437 | DNAH5 | c.11758A>G (p.Lys3920Glu) c.11713A>G (p.Lys3905Glu) c.11866A>G (p.Lys3956Glu) c.10771A>G (p.Lys3591Glu) c.6955A>G (p.Lys2319Glu) c.6508A>G (p.Lys2170Glu) c.5845A>G (p.Lys1949Glu) c.10360A>G (p.Lys3454Glu) | |
| 5 | g.13735134T>G | CA359222436 | DNAH5 | c.11758A>C (p.Lys3920Gln) c.11713A>C (p.Lys3905Gln) c.11866A>C (p.Lys3956Gln) c.10771A>C (p.Lys3591Gln) c.6955A>C (p.Lys2319Gln) c.6508A>C (p.Lys2170Gln) c.5845A>C (p.Lys1949Gln) c.10360A>C (p.Lys3454Gln) | |
| 5 | g.13735135A>C | CA359222445 | DNAH5 | c.11757T>G (p.Ile3919Met) c.11712T>G (p.Ile3904Met) c.11865T>G (p.Ile3955Met) c.10770T>G (p.Ile3590Met) c.6954T>G (p.Ile2318Met) c.6507T>G (p.Ile2169Met) c.5844T>G (p.Ile1948Met) c.10359T>G (p.Ile3453Met) | |
| 5 | g.13735135A>G | CA443259967 | DNAH5 | c.11757T>C (p.Ile3919=) c.11712T>C (p.Ile3904=) c.11865T>C (p.Ile3955=) c.10770T>C (p.Ile3590=) c.6954T>C (p.Ile2318=) c.6507T>C (p.Ile2169=) c.5844T>C (p.Ile1948=) c.10359T>C (p.Ile3453=) | COSMIC |
| 5 | g.13735135A>T | CA443259968 | DNAH5 | c.11757T>A (p.Ile3919=) c.11712T>A (p.Ile3904=) c.11865T>A (p.Ile3955=) c.10770T>A (p.Ile3590=) c.6954T>A (p.Ile2318=) c.6507T>A (p.Ile2169=) c.5844T>A (p.Ile1948=) c.10359T>A (p.Ile3453=) | |
| 5 | g.13735136A= | CA1528414802 | DNAH5 | c.11756T= (p.Ile3919=) c.11711T= (p.Ile3904=) c.11864T= (p.Ile3955=) c.10769T= (p.Ile3590=) c.6953T= (p.Ile2318=) c.6506T= (p.Ile2169=) c.5843T= (p.Ile1948=) c.10358T= (p.Ile3453=) | |
| 5 | g.13735136A>C | CA113926897 | DNAH5 | c.11756T>G (p.Ile3919Ser) c.11711T>G (p.Ile3904Ser) c.11864T>G (p.Ile3955Ser) c.10769T>G (p.Ile3590Ser) c.6953T>G (p.Ile2318Ser) c.6506T>G (p.Ile2169Ser) c.5843T>G (p.Ile1948Ser) c.10358T>G (p.Ile3453Ser) | dbSNP |
| 5 | g.13735136A>G | CA359222446 | DNAH5 | c.11756T>C (p.Ile3919Thr) c.11711T>C (p.Ile3904Thr) c.11864T>C (p.Ile3955Thr) c.10769T>C (p.Ile3590Thr) c.6953T>C (p.Ile2318Thr) c.6506T>C (p.Ile2169Thr) c.5843T>C (p.Ile1948Thr) c.10358T>C (p.Ile3453Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13735136A>T | CA359222451 | DNAH5 | c.11756T>A (p.Ile3919Asn) c.11711T>A (p.Ile3904Asn) c.11864T>A (p.Ile3955Asn) c.10769T>A (p.Ile3590Asn) c.6953T>A (p.Ile2318Asn) c.6506T>A (p.Ile2169Asn) c.5843T>A (p.Ile1948Asn) c.10358T>A (p.Ile3453Asn) | |
| 5 | g.13735137T>A | CA359222458 | DNAH5 | c.11755A>T (p.Ile3919Phe) c.11710A>T (p.Ile3904Phe) c.11863A>T (p.Ile3955Phe) c.10768A>T (p.Ile3590Phe) c.6952A>T (p.Ile2318Phe) c.6505A>T (p.Ile2169Phe) c.5842A>T (p.Ile1948Phe) c.10357A>T (p.Ile3453Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735137T>C | CA359222461 | DNAH5 | c.11755A>G (p.Ile3919Val) c.11710A>G (p.Ile3904Val) c.11863A>G (p.Ile3955Val) c.10768A>G (p.Ile3590Val) c.6952A>G (p.Ile2318Val) c.6505A>G (p.Ile2169Val) c.5842A>G (p.Ile1948Val) c.10357A>G (p.Ile3453Val) | |
| 5 | g.13735137T>G | CA359222468 | DNAH5 | c.11755A>C (p.Ile3919Leu) c.11710A>C (p.Ile3904Leu) c.11863A>C (p.Ile3955Leu) c.10768A>C (p.Ile3590Leu) c.6952A>C (p.Ile2318Leu) c.6505A>C (p.Ile2169Leu) c.5842A>C (p.Ile1948Leu) c.10357A>C (p.Ile3453Leu) | |
| 5 | g.13735137T= | CA1528414803 | DNAH5 | c.11755A= (p.Ile3919=) c.11710A= (p.Ile3904=) c.11863A= (p.Ile3955=) c.10768A= (p.Ile3590=) c.6952A= (p.Ile2318=) c.6505A= (p.Ile2169=) c.5842A= (p.Ile1948=) c.10357A= (p.Ile3453=) | |
| 5 | g.13735138A>C | CA443259971 | DNAH5 | c.11754T>G (p.Leu3918=) c.11709T>G (p.Leu3903=) c.11862T>G (p.Leu3954=) c.10767T>G (p.Leu3589=) c.6951T>G (p.Leu2317=) c.6504T>G (p.Leu2168=) c.5841T>G (p.Leu1947=) c.10356T>G (p.Leu3452=) | |
| 5 | g.13735138A>G | CA443259970 | DNAH5 | c.11754T>C (p.Leu3918=) c.11709T>C (p.Leu3903=) c.11862T>C (p.Leu3954=) c.10767T>C (p.Leu3589=) c.6951T>C (p.Leu2317=) c.6504T>C (p.Leu2168=) c.5841T>C (p.Leu1947=) c.10356T>C (p.Leu3452=) | |
| 5 | g.13735138A>T | CA443259969 | DNAH5 | c.11754T>A (p.Leu3918=) c.11709T>A (p.Leu3903=) c.11862T>A (p.Leu3954=) c.10767T>A (p.Leu3589=) c.6951T>A (p.Leu2317=) c.6504T>A (p.Leu2168=) c.5841T>A (p.Leu1947=) c.10356T>A (p.Leu3452=) | gnomAD v4 |
| 5 | g.13735139A>C | CA359222475 | DNAH5 | c.11753T>G (p.Leu3918Arg) c.11708T>G (p.Leu3903Arg) c.11861T>G (p.Leu3954Arg) c.10766T>G (p.Leu3589Arg) c.6950T>G (p.Leu2317Arg) c.6503T>G (p.Leu2168Arg) c.5840T>G (p.Leu1947Arg) c.10355T>G (p.Leu3452Arg) | COSMIC |
| 5 | g.13735139A>G | CA359222480 | DNAH5 | c.11753T>C (p.Leu3918Pro) c.11708T>C (p.Leu3903Pro) c.11861T>C (p.Leu3954Pro) c.10766T>C (p.Leu3589Pro) c.6950T>C (p.Leu2317Pro) c.6503T>C (p.Leu2168Pro) c.5840T>C (p.Leu1947Pro) c.10355T>C (p.Leu3452Pro) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13735139A>T | CA359222481 | DNAH5 | c.11753T>A (p.Leu3918His) c.11708T>A (p.Leu3903His) c.11861T>A (p.Leu3954His) c.10766T>A (p.Leu3589His) c.6950T>A (p.Leu2317His) c.6503T>A (p.Leu2168His) c.5840T>A (p.Leu1947His) c.10355T>A (p.Leu3452His) | |
| 5 | g.13735140G>A | CA359222490 | DNAH5 | c.11752C>T (p.Leu3918Phe) c.11707C>T (p.Leu3903Phe) c.11860C>T (p.Leu3954Phe) c.10765C>T (p.Leu3589Phe) c.6949C>T (p.Leu2317Phe) c.6502C>T (p.Leu2168Phe) c.5839C>T (p.Leu1947Phe) c.10354C>T (p.Leu3452Phe) | |
| 5 | g.13735140G>C | CA359222491 | DNAH5 | c.11752C>G (p.Leu3918Val) c.11707C>G (p.Leu3903Val) c.11860C>G (p.Leu3954Val) c.10765C>G (p.Leu3589Val) c.6949C>G (p.Leu2317Val) c.6502C>G (p.Leu2168Val) c.5839C>G (p.Leu1947Val) c.10354C>G (p.Leu3452Val) | gnomAD v4 |
| 5 | g.13735140G>T | CA359222492 | DNAH5 | c.11752C>A (p.Leu3918Ile) c.11707C>A (p.Leu3903Ile) c.11860C>A (p.Leu3954Ile) c.10765C>A (p.Leu3589Ile) c.6949C>A (p.Leu2317Ile) c.6502C>A (p.Leu2168Ile) c.5839C>A (p.Leu1947Ile) c.10354C>A (p.Leu3452Ile) | |
| 5 | g.13735141A>C | CA443259972 | DNAH5 | c.11751T>G (p.Thr3917=) c.11706T>G (p.Thr3902=) c.11859T>G (p.Thr3953=) c.10764T>G (p.Thr3588=) c.6948T>G (p.Thr2316=) c.6501T>G (p.Thr2167=) c.5838T>G (p.Thr1946=) c.10353T>G (p.Thr3451=) | |
| 5 | g.13735141A>G | CA443259973 | DNAH5 | c.11751T>C (p.Thr3917=) c.11706T>C (p.Thr3902=) c.11859T>C (p.Thr3953=) c.10764T>C (p.Thr3588=) c.6948T>C (p.Thr2316=) c.6501T>C (p.Thr2167=) c.5838T>C (p.Thr1946=) c.10353T>C (p.Thr3451=) | |
| 5 | g.13735141A>T | CA443259974 | DNAH5 | c.11751T>A (p.Thr3917=) c.11706T>A (p.Thr3902=) c.11859T>A (p.Thr3953=) c.10764T>A (p.Thr3588=) c.6948T>A (p.Thr2316=) c.6501T>A (p.Thr2167=) c.5838T>A (p.Thr1946=) c.10353T>A (p.Thr3451=) | |
| 5 | g.13735142G>A | CA3201862 | DNAH5 | c.11750C>T (p.Thr3917Ile) c.11705C>T (p.Thr3902Ile) c.11858C>T (p.Thr3953Ile) c.10763C>T (p.Thr3588Ile) c.6947C>T (p.Thr2316Ile) c.6500C>T (p.Thr2167Ile) c.5837C>T (p.Thr1946Ile) c.10352C>T (p.Thr3451Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13735142G>C | CA359222500 | DNAH5 | c.11750C>G (p.Thr3917Ser) c.11705C>G (p.Thr3902Ser) c.11858C>G (p.Thr3953Ser) c.10763C>G (p.Thr3588Ser) c.6947C>G (p.Thr2316Ser) c.6500C>G (p.Thr2167Ser) c.5837C>G (p.Thr1946Ser) c.10352C>G (p.Thr3451Ser) | gnomAD v4 |
| 5 | g.13735142G= | CA1528414804 | DNAH5 | c.11750C= (p.Thr3917=) c.11705C= (p.Thr3902=) c.11858C= (p.Thr3953=) c.10763C= (p.Thr3588=) c.6947C= (p.Thr2316=) c.6500C= (p.Thr2167=) c.5837C= (p.Thr1946=) c.10352C= (p.Thr3451=) | |
| 5 | g.13735142G>T | CA359222504 | DNAH5 | c.11750C>A (p.Thr3917Asn) c.11705C>A (p.Thr3902Asn) c.11858C>A (p.Thr3953Asn) c.10763C>A (p.Thr3588Asn) c.6947C>A (p.Thr2316Asn) c.6500C>A (p.Thr2167Asn) c.5837C>A (p.Thr1946Asn) c.10352C>A (p.Thr3451Asn) | |
| 5 | g.13735143T>A | CA359222524 | DNAH5 | c.11749A>T (p.Thr3917Ser) c.11704A>T (p.Thr3902Ser) c.11857A>T (p.Thr3953Ser) c.10762A>T (p.Thr3588Ser) c.6946A>T (p.Thr2316Ser) c.6499A>T (p.Thr2167Ser) c.5836A>T (p.Thr1946Ser) c.10351A>T (p.Thr3451Ser) | |
| 5 | g.13735143T>C | CA359222511 | DNAH5 | c.11749A>G (p.Thr3917Ala) c.11704A>G (p.Thr3902Ala) c.11857A>G (p.Thr3953Ala) c.10762A>G (p.Thr3588Ala) c.6946A>G (p.Thr2316Ala) c.6499A>G (p.Thr2167Ala) c.5836A>G (p.Thr1946Ala) c.10351A>G (p.Thr3451Ala) | |
| 5 | g.13735143T>G | CA359222523 | DNAH5 | c.11749A>C (p.Thr3917Pro) c.11704A>C (p.Thr3902Pro) c.11857A>C (p.Thr3953Pro) c.10762A>C (p.Thr3588Pro) c.6946A>C (p.Thr2316Pro) c.6499A>C (p.Thr2167Pro) c.5836A>C (p.Thr1946Pro) c.10351A>C (p.Thr3451Pro) | |
| 5 | g.13735144G>A | CA443259975 | DNAH5 | c.11748C>T (p.Leu3916=) c.11703C>T (p.Leu3901=) c.11856C>T (p.Leu3952=) c.10761C>T (p.Leu3587=) c.6945C>T (p.Leu2315=) c.6498C>T (p.Leu2166=) c.5835C>T (p.Leu1945=) c.10350C>T (p.Leu3450=) | |
| 5 | g.13735144G>C | CA443259977 | DNAH5 | c.11748C>G (p.Leu3916=) c.11703C>G (p.Leu3901=) c.11856C>G (p.Leu3952=) c.10761C>G (p.Leu3587=) c.6945C>G (p.Leu2315=) c.6498C>G (p.Leu2166=) c.5835C>G (p.Leu1945=) c.10350C>G (p.Leu3450=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13735144G= | CA1528414805 | DNAH5 | c.11748C= (p.Leu3916=) c.11703C= (p.Leu3901=) c.11856C= (p.Leu3952=) c.10761C= (p.Leu3587=) c.6945C= (p.Leu2315=) c.6498C= (p.Leu2166=) c.5835C= (p.Leu1945=) c.10350C= (p.Leu3450=) | |
| 5 | g.13735144G>T | CA443259976 | DNAH5 | c.11748C>A (p.Leu3916=) c.11703C>A (p.Leu3901=) c.11856C>A (p.Leu3952=) c.10761C>A (p.Leu3587=) c.6945C>A (p.Leu2315=) c.6498C>A (p.Leu2166=) c.5835C>A (p.Leu1945=) c.10350C>A (p.Leu3450=) | |
| 5 | g.13735145A>C | CA359222525 | DNAH5 | c.11747T>G (p.Leu3916Arg) c.11702T>G (p.Leu3901Arg) c.11855T>G (p.Leu3952Arg) c.10760T>G (p.Leu3587Arg) c.6944T>G (p.Leu2315Arg) c.6497T>G (p.Leu2166Arg) c.5834T>G (p.Leu1945Arg) c.10349T>G (p.Leu3450Arg) | |
| 5 | g.13735145A>G | CA359222534 | DNAH5 | c.11747T>C (p.Leu3916Pro) c.11702T>C (p.Leu3901Pro) c.11855T>C (p.Leu3952Pro) c.10760T>C (p.Leu3587Pro) c.6944T>C (p.Leu2315Pro) c.6497T>C (p.Leu2166Pro) c.5834T>C (p.Leu1945Pro) c.10349T>C (p.Leu3450Pro) | |
| 5 | g.13735145A>T | CA359222537 | DNAH5 | c.11747T>A (p.Leu3916His) c.11702T>A (p.Leu3901His) c.11855T>A (p.Leu3952His) c.10760T>A (p.Leu3587His) c.6944T>A (p.Leu2315His) c.6497T>A (p.Leu2166His) c.5834T>A (p.Leu1945His) c.10349T>A (p.Leu3450His) | |
| 5 | g.13735145_13735146insTAACTATCTATTGAG | CA2512060247 | DNAH5 | c.11746_11747insCTCAATAGATAGTTA (p.Leu3916ProfsTer3) c.11701_11702insCTCAATAGATAGTTA (p.Leu3901ProfsTer3) c.11854_11855insCTCAATAGATAGTTA (p.Leu3952ProfsTer3) c.10759_10760insCTCAATAGATAGTTA (p.Leu3587ProfsTer3) c.6943_6944insCTCAATAGATAGTTA (p.Leu2315ProfsTer3) c.6496_6497insCTCAATAGATAGTTA (p.Leu2166ProfsTer3) c.5833_5834insCTCAATAGATAGTTA (p.Leu1945ProfsTer3) c.10348_10349insCTCAATAGATAGTTA (p.Leu3450ProfsTer3) | |
| 5 | g.13735146G>A | CA359222542 | DNAH5 | c.11746C>T (p.Leu3916Phe) c.11701C>T (p.Leu3901Phe) c.11854C>T (p.Leu3952Phe) c.10759C>T (p.Leu3587Phe) c.6943C>T (p.Leu2315Phe) c.6496C>T (p.Leu2166Phe) c.5833C>T (p.Leu1945Phe) c.10348C>T (p.Leu3450Phe) | |
| 5 | g.13735146G>C | CA3201863 | DNAH5 | c.11746C>G (p.Leu3916Val) c.11701C>G (p.Leu3901Val) c.11854C>G (p.Leu3952Val) c.10759C>G (p.Leu3587Val) c.6943C>G (p.Leu2315Val) c.6496C>G (p.Leu2166Val) c.5833C>G (p.Leu1945Val) c.10348C>G (p.Leu3450Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13735146G= | CA1528414806 | DNAH5 | c.11746C= (p.Leu3916=) c.11701C= (p.Leu3901=) c.11854C= (p.Leu3952=) c.10759C= (p.Leu3587=) c.6943C= (p.Leu2315=) c.6496C= (p.Leu2166=) c.5833C= (p.Leu1945=) c.10348C= (p.Leu3450=) | |
| 5 | g.13735146G>T | CA359222544 | DNAH5 | c.11746C>A (p.Leu3916Ile) c.11701C>A (p.Leu3901Ile) c.11854C>A (p.Leu3952Ile) c.10759C>A (p.Leu3587Ile) c.6943C>A (p.Leu2315Ile) c.6496C>A (p.Leu2166Ile) c.5833C>A (p.Leu1945Ile) c.10348C>A (p.Leu3450Ile) | |
| 5 | g.13735147A>C | CA359222549 | DNAH5 | c.11745T>G (p.Phe3915Leu) c.11700T>G (p.Phe3900Leu) c.11853T>G (p.Phe3951Leu) c.10758T>G (p.Phe3586Leu) c.6942T>G (p.Phe2314Leu) c.6495T>G (p.Phe2165Leu) c.5832T>G (p.Phe1944Leu) c.10347T>G (p.Phe3449Leu) | |
| 5 | g.13735147A>G | CA443259978 | DNAH5 | c.11745T>C (p.Phe3915=) c.11700T>C (p.Phe3900=) c.11853T>C (p.Phe3951=) c.10758T>C (p.Phe3586=) c.6942T>C (p.Phe2314=) c.6495T>C (p.Phe2165=) c.5832T>C (p.Phe1944=) c.10347T>C (p.Phe3449=) | |
| 5 | g.13735147A>T | CA359222553 | DNAH5 | c.11745T>A (p.Phe3915Leu) c.11700T>A (p.Phe3900Leu) c.11853T>A (p.Phe3951Leu) c.10758T>A (p.Phe3586Leu) c.6942T>A (p.Phe2314Leu) c.6495T>A (p.Phe2165Leu) c.5832T>A (p.Phe1944Leu) c.10347T>A (p.Phe3449Leu) | |
| 5 | g.13735148A>C | CA359222557 | DNAH5 | c.11744T>G (p.Phe3915Cys) c.11699T>G (p.Phe3900Cys) c.11852T>G (p.Phe3951Cys) c.10757T>G (p.Phe3586Cys) c.6941T>G (p.Phe2314Cys) c.6494T>G (p.Phe2165Cys) c.5831T>G (p.Phe1944Cys) c.10346T>G (p.Phe3449Cys) | |
| 5 | g.13735148A>G | CA359222559 | DNAH5 | c.11744T>C (p.Phe3915Ser) c.11699T>C (p.Phe3900Ser) c.11852T>C (p.Phe3951Ser) c.10757T>C (p.Phe3586Ser) c.6941T>C (p.Phe2314Ser) c.6494T>C (p.Phe2165Ser) c.5831T>C (p.Phe1944Ser) c.10346T>C (p.Phe3449Ser) | ClinVar gnomAD v4 |
| 5 | g.13735148A>T | CA359222561 | DNAH5 | c.11744T>A (p.Phe3915Tyr) c.11699T>A (p.Phe3900Tyr) c.11852T>A (p.Phe3951Tyr) c.10757T>A (p.Phe3586Tyr) c.6941T>A (p.Phe2314Tyr) c.6494T>A (p.Phe2165Tyr) c.5831T>A (p.Phe1944Tyr) c.10346T>A (p.Phe3449Tyr) | |
| 5 | g.13735149A= | CA1528414807 | DNAH5 | c.11743T= (p.Phe3915=) c.11698T= (p.Phe3900=) c.11851T= (p.Phe3951=) c.10756T= (p.Phe3586=) c.6940T= (p.Phe2314=) c.6493T= (p.Phe2165=) c.5830T= (p.Phe1944=) c.10345T= (p.Phe3449=) | |
| 5 | g.13735149A>C | CA359222567 | DNAH5 | c.11743T>G (p.Phe3915Val) c.11698T>G (p.Phe3900Val) c.11851T>G (p.Phe3951Val) c.10756T>G (p.Phe3586Val) c.6940T>G (p.Phe2314Val) c.6493T>G (p.Phe2165Val) c.5830T>G (p.Phe1944Val) c.10345T>G (p.Phe3449Val) | |
| 5 | g.13735149A>G | CA3201864 | DNAH5 | c.11743T>C (p.Phe3915Leu) c.11698T>C (p.Phe3900Leu) c.11851T>C (p.Phe3951Leu) c.10756T>C (p.Phe3586Leu) c.6940T>C (p.Phe2314Leu) c.6493T>C (p.Phe2165Leu) c.5830T>C (p.Phe1944Leu) c.10345T>C (p.Phe3449Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13735149A>T | CA359222566 | DNAH5 | c.11743T>A (p.Phe3915Ile) c.11698T>A (p.Phe3900Ile) c.11851T>A (p.Phe3951Ile) c.10756T>A (p.Phe3586Ile) c.6940T>A (p.Phe2314Ile) c.6493T>A (p.Phe2165Ile) c.5830T>A (p.Phe1944Ile) c.10345T>A (p.Phe3449Ile) | |
| 5 | g.13735150C>A | CA359222568 | DNAH5 | c.11742G>T (p.Glu3914Asp) c.11697G>T (p.Glu3899Asp) c.11850G>T (p.Glu3950Asp) c.10755G>T (p.Glu3585Asp) c.6939G>T (p.Glu2313Asp) c.6492G>T (p.Glu2164Asp) c.5829G>T (p.Glu1943Asp) c.10344G>T (p.Glu3448Asp) | |
| 5 | g.13735150C>G | CA359222571 | DNAH5 | c.11742G>C (p.Glu3914Asp) c.11697G>C (p.Glu3899Asp) c.11850G>C (p.Glu3950Asp) c.10755G>C (p.Glu3585Asp) c.6939G>C (p.Glu2313Asp) c.6492G>C (p.Glu2164Asp) c.5829G>C (p.Glu1943Asp) c.10344G>C (p.Glu3448Asp) | |
| 5 | g.13735150C>T | CA443259979 | DNAH5 | c.11742G>A (p.Glu3914=) c.11697G>A (p.Glu3899=) c.11850G>A (p.Glu3950=) c.10755G>A (p.Glu3585=) c.6939G>A (p.Glu2313=) c.6492G>A (p.Glu2164=) c.5829G>A (p.Glu1943=) c.10344G>A (p.Glu3448=) | |
| 5 | g.13735151T>A | CA359222578 | DNAH5 | c.11741A>T (p.Glu3914Val) c.11696A>T (p.Glu3899Val) c.11849A>T (p.Glu3950Val) c.10754A>T (p.Glu3585Val) c.6938A>T (p.Glu2313Val) c.6491A>T (p.Glu2164Val) c.5828A>T (p.Glu1943Val) c.10343A>T (p.Glu3448Val) | |
| 5 | g.13735151T>C | CA113926911 | DNAH5 | c.11741A>G (p.Glu3914Gly) c.11696A>G (p.Glu3899Gly) c.11849A>G (p.Glu3950Gly) c.10754A>G (p.Glu3585Gly) c.6938A>G (p.Glu2313Gly) c.6491A>G (p.Glu2164Gly) c.5828A>G (p.Glu1943Gly) c.10343A>G (p.Glu3448Gly) | dbSNP |
| 5 | g.13735151T>G | CA3201865 | DNAH5 | c.11741A>C (p.Glu3914Ala) c.11696A>C (p.Glu3899Ala) c.11849A>C (p.Glu3950Ala) c.10754A>C (p.Glu3585Ala) c.6938A>C (p.Glu2313Ala) c.6491A>C (p.Glu2164Ala) c.5828A>C (p.Glu1943Ala) c.10343A>C (p.Glu3448Ala) | dbSNP ExAC gnomAD v2 |
| 5 | g.13735151T= | CA1528414808 | DNAH5 | c.11741A= (p.Glu3914=) c.11696A= (p.Glu3899=) c.11849A= (p.Glu3950=) c.10754A= (p.Glu3585=) c.6938A= (p.Glu2313=) c.6491A= (p.Glu2164=) c.5828A= (p.Glu1943=) c.10343A= (p.Glu3448=) | |
| 5 | g.13735152C>A | CA359222601 | DNAH5 | c.11740G>T (p.Glu3914Ter) c.11695G>T (p.Glu3899Ter) c.11848G>T (p.Glu3950Ter) c.10753G>T (p.Glu3585Ter) c.6937G>T (p.Glu2313Ter) c.6490G>T (p.Glu2164Ter) c.5827G>T (p.Glu1943Ter) c.10342G>T (p.Glu3448Ter) | |
| 5 | g.13735152C>G | CA359222608 | DNAH5 | c.11740G>C (p.Glu3914Gln) c.11695G>C (p.Glu3899Gln) c.11848G>C (p.Glu3950Gln) c.10753G>C (p.Glu3585Gln) c.6937G>C (p.Glu2313Gln) c.6490G>C (p.Glu2164Gln) c.5827G>C (p.Glu1943Gln) c.10342G>C (p.Glu3448Gln) | |
| 5 | g.13735152C>T | CA359222609 | DNAH5 | c.11740G>A (p.Glu3914Lys) c.11695G>A (p.Glu3899Lys) c.11848G>A (p.Glu3950Lys) c.10753G>A (p.Glu3585Lys) c.6937G>A (p.Glu2313Lys) c.6490G>A (p.Glu2164Lys) c.5827G>A (p.Glu1943Lys) c.10342G>A (p.Glu3448Lys) | COSMIC |
| 5 | g.13735153T>A | CA359222610 | DNAH5 | c.11739A>T (p.Glu3913Asp) c.11694A>T (p.Glu3898Asp) c.11847A>T (p.Glu3949Asp) c.10752A>T (p.Glu3584Asp) c.6936A>T (p.Glu2312Asp) c.6489A>T (p.Glu2163Asp) c.5826A>T (p.Glu1942Asp) c.10341A>T (p.Glu3447Asp) | |
| 5 | g.13735153T>C | CA3201867 | DNAH5 | c.11739A>G (p.Glu3913=) c.11694A>G (p.Glu3898=) c.11847A>G (p.Glu3949=) c.10752A>G (p.Glu3584=) c.6936A>G (p.Glu2312=) c.6489A>G (p.Glu2163=) c.5826A>G (p.Glu1942=) c.10341A>G (p.Glu3447=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735153T>G | CA3201866 | DNAH5 | c.11739A>C (p.Glu3913Asp) c.11694A>C (p.Glu3898Asp) c.11847A>C (p.Glu3949Asp) c.10752A>C (p.Glu3584Asp) c.6936A>C (p.Glu2312Asp) c.6489A>C (p.Glu2163Asp) c.5826A>C (p.Glu1942Asp) c.10341A>C (p.Glu3447Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13735153T= | CA1528414809 | DNAH5 | c.11739A= (p.Glu3913=) c.11694A= (p.Glu3898=) c.11847A= (p.Glu3949=) c.10752A= (p.Glu3584=) c.6936A= (p.Glu2312=) c.6489A= (p.Glu2163=) c.5826A= (p.Glu1942=) c.10341A= (p.Glu3447=) | |
| 5 | g.13735154T>A | CA359222646 | DNAH5 | c.11738A>T (p.Glu3913Val) c.11693A>T (p.Glu3898Val) c.11846A>T (p.Glu3949Val) c.10751A>T (p.Glu3584Val) c.6935A>T (p.Glu2312Val) c.6488A>T (p.Glu2163Val) c.5825A>T (p.Glu1942Val) c.10340A>T (p.Glu3447Val) | |
| 5 | g.13735154T>C | CA359222637 | DNAH5 | c.11738A>G (p.Glu3913Gly) c.11693A>G (p.Glu3898Gly) c.11846A>G (p.Glu3949Gly) c.10751A>G (p.Glu3584Gly) c.6935A>G (p.Glu2312Gly) c.6488A>G (p.Glu2163Gly) c.5825A>G (p.Glu1942Gly) c.10340A>G (p.Glu3447Gly) | |
| 5 | g.13735154T>G | CA359222632 | DNAH5 | c.11738A>C (p.Glu3913Ala) c.11693A>C (p.Glu3898Ala) c.11846A>C (p.Glu3949Ala) c.10751A>C (p.Glu3584Ala) c.6935A>C (p.Glu2312Ala) c.6488A>C (p.Glu2163Ala) c.5825A>C (p.Glu1942Ala) c.10340A>C (p.Glu3447Ala) | |
| 5 | g.13735155C>A | CA359222651 | DNAH5 | c.11737G>T (p.Glu3913Ter) c.11692G>T (p.Glu3898Ter) c.11845G>T (p.Glu3949Ter) c.10750G>T (p.Glu3584Ter) c.6934G>T (p.Glu2312Ter) c.6487G>T (p.Glu2163Ter) c.5824G>T (p.Glu1942Ter) c.10339G>T (p.Glu3447Ter) | |
| 5 | g.13735155C>G | CA359222654 | DNAH5 | c.11737G>C (p.Glu3913Gln) c.11692G>C (p.Glu3898Gln) c.11845G>C (p.Glu3949Gln) c.10750G>C (p.Glu3584Gln) c.6934G>C (p.Glu2312Gln) c.6487G>C (p.Glu2163Gln) c.5824G>C (p.Glu1942Gln) c.10339G>C (p.Glu3447Gln) | |
| 5 | g.13735155C>T | CA359222656 | DNAH5 | c.11737G>A (p.Glu3913Lys) c.11692G>A (p.Glu3898Lys) c.11845G>A (p.Glu3949Lys) c.10750G>A (p.Glu3584Lys) c.6934G>A (p.Glu2312Lys) c.6487G>A (p.Glu2163Lys) c.5824G>A (p.Glu1942Lys) c.10339G>A (p.Glu3447Lys) | |
| 5 | g.13735156A>C | CA359222657 | DNAH5 | c.11736T>G (p.His3912Gln) c.11691T>G (p.His3897Gln) c.11844T>G (p.His3948Gln) c.10749T>G (p.His3583Gln) c.6933T>G (p.His2311Gln) c.6486T>G (p.His2162Gln) c.5823T>G (p.His1941Gln) c.10338T>G (p.His3446Gln) | |
| 5 | g.13735156A>G | CA443259980 | DNAH5 | c.11736T>C (p.His3912=) c.11691T>C (p.His3897=) c.11844T>C (p.His3948=) c.10749T>C (p.His3583=) c.6933T>C (p.His2311=) c.6486T>C (p.His2162=) c.5823T>C (p.His1941=) c.10338T>C (p.His3446=) | |
| 5 | g.13735156A>T | CA359222658 | DNAH5 | c.11736T>A (p.His3912Gln) c.11691T>A (p.His3897Gln) c.11844T>A (p.His3948Gln) c.10749T>A (p.His3583Gln) c.6933T>A (p.His2311Gln) c.6486T>A (p.His2162Gln) c.5823T>A (p.His1941Gln) c.10338T>A (p.His3446Gln) | |
| 5 | g.13735157T>A | CA359222662 | DNAH5 | c.11735A>T (p.His3912Leu) c.11690A>T (p.His3897Leu) c.11843A>T (p.His3948Leu) c.10748A>T (p.His3583Leu) c.6932A>T (p.His2311Leu) c.6485A>T (p.His2162Leu) c.5822A>T (p.His1941Leu) c.10337A>T (p.His3446Leu) | |
| 5 | g.13735157T>C | CA3201868 | DNAH5 | c.11735A>G (p.His3912Arg) c.11690A>G (p.His3897Arg) c.11843A>G (p.His3948Arg) c.10748A>G (p.His3583Arg) c.6932A>G (p.His2311Arg) c.6485A>G (p.His2162Arg) c.5822A>G (p.His1941Arg) c.10337A>G (p.His3446Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735157T>G | CA359222676 | DNAH5 | c.11735A>C (p.His3912Pro) c.11690A>C (p.His3897Pro) c.11843A>C (p.His3948Pro) c.10748A>C (p.His3583Pro) c.6932A>C (p.His2311Pro) c.6485A>C (p.His2162Pro) c.5822A>C (p.His1941Pro) c.10337A>C (p.His3446Pro) | |
| 5 | g.13735157T= | CA1528414810 | DNAH5 | c.11735A= (p.His3912=) c.11690A= (p.His3897=) c.11843A= (p.His3948=) c.10748A= (p.His3583=) c.6932A= (p.His2311=) c.6485A= (p.His2162=) c.5822A= (p.His1941=) c.10337A= (p.His3446=) | |
| 5 | g.13735158G>A | CA359222678 | DNAH5 | c.11734C>T (p.His3912Tyr) c.11689C>T (p.His3897Tyr) c.11842C>T (p.His3948Tyr) c.10747C>T (p.His3583Tyr) c.6931C>T (p.His2311Tyr) c.6484C>T (p.His2162Tyr) c.5821C>T (p.His1941Tyr) c.10336C>T (p.His3446Tyr) | |
| 5 | g.13735158G>C | CA359222681 | DNAH5 | c.11734C>G (p.His3912Asp) c.11689C>G (p.His3897Asp) c.11842C>G (p.His3948Asp) c.10747C>G (p.His3583Asp) c.6931C>G (p.His2311Asp) c.6484C>G (p.His2162Asp) c.5821C>G (p.His1941Asp) c.10336C>G (p.His3446Asp) | |
| 5 | g.13735158G>T | CA359222682 | DNAH5 | c.11734C>A (p.His3912Asn) c.11689C>A (p.His3897Asn) c.11842C>A (p.His3948Asn) c.10747C>A (p.His3583Asn) c.6931C>A (p.His2311Asn) c.6484C>A (p.His2162Asn) c.5821C>A (p.His1941Asn) c.10336C>A (p.His3446Asn) | |
| 5 | g.13735159C>A | CA359222683 | DNAH5 | c.11733G>T (p.Lys3911Asn) c.11688G>T (p.Lys3896Asn) c.11841G>T (p.Lys3947Asn) c.10746G>T (p.Lys3582Asn) c.6930G>T (p.Lys2310Asn) c.6483G>T (p.Lys2161Asn) c.5820G>T (p.Lys1940Asn) c.10335G>T (p.Lys3445Asn) | |
| 5 | g.13735159C>G | CA359222685 | DNAH5 | c.11733G>C (p.Lys3911Asn) c.11688G>C (p.Lys3896Asn) c.11841G>C (p.Lys3947Asn) c.10746G>C (p.Lys3582Asn) c.6930G>C (p.Lys2310Asn) c.6483G>C (p.Lys2161Asn) c.5820G>C (p.Lys1940Asn) c.10335G>C (p.Lys3445Asn) | |
| 5 | g.13735159C>T | CA443259981 | DNAH5 | c.11733G>A (p.Lys3911=) c.11688G>A (p.Lys3896=) c.11841G>A (p.Lys3947=) c.10746G>A (p.Lys3582=) c.6930G>A (p.Lys2310=) c.6483G>A (p.Lys2161=) c.5820G>A (p.Lys1940=) c.10335G>A (p.Lys3445=) | gnomAD v4 |
| 5 | g.13735160T>A | CA359222690 | DNAH5 | c.11732A>T (p.Lys3911Met) c.11687A>T (p.Lys3896Met) c.11840A>T (p.Lys3947Met) c.10745A>T (p.Lys3582Met) c.6929A>T (p.Lys2310Met) c.6482A>T (p.Lys2161Met) c.5819A>T (p.Lys1940Met) c.10334A>T (p.Lys3445Met) | |
| 5 | g.13735160T>C | CA359222702 | DNAH5 | c.11732A>G (p.Lys3911Arg) c.11687A>G (p.Lys3896Arg) c.11840A>G (p.Lys3947Arg) c.10745A>G (p.Lys3582Arg) c.6929A>G (p.Lys2310Arg) c.6482A>G (p.Lys2161Arg) c.5819A>G (p.Lys1940Arg) c.10334A>G (p.Lys3445Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13735160T>G | CA113926915 | DNAH5 | c.11732A>C (p.Lys3911Thr) c.11687A>C (p.Lys3896Thr) c.11840A>C (p.Lys3947Thr) c.10745A>C (p.Lys3582Thr) c.6929A>C (p.Lys2310Thr) c.6482A>C (p.Lys2161Thr) c.5819A>C (p.Lys1940Thr) c.10334A>C (p.Lys3445Thr) | dbSNP gnomAD v4 |
| 5 | g.13735160T= | CA1528414811 | DNAH5 | c.11732A= (p.Lys3911=) c.11687A= (p.Lys3896=) c.11840A= (p.Lys3947=) c.10745A= (p.Lys3582=) c.6929A= (p.Lys2310=) c.6482A= (p.Lys2161=) c.5819A= (p.Lys1940=) c.10334A= (p.Lys3445=) | |
| 5 | g.13735161T>A | CA359222710 | DNAH5 | c.11731A>T (p.Lys3911Ter) c.11686A>T (p.Lys3896Ter) c.11839A>T (p.Lys3947Ter) c.10744A>T (p.Lys3582Ter) c.6928A>T (p.Lys2310Ter) c.6481A>T (p.Lys2161Ter) c.5818A>T (p.Lys1940Ter) c.10333A>T (p.Lys3445Ter) | |
| 5 | g.13735161T>C | CA359222707 | DNAH5 | c.11731A>G (p.Lys3911Glu) c.11686A>G (p.Lys3896Glu) c.11839A>G (p.Lys3947Glu) c.10744A>G (p.Lys3582Glu) c.6928A>G (p.Lys2310Glu) c.6481A>G (p.Lys2161Glu) c.5818A>G (p.Lys1940Glu) c.10333A>G (p.Lys3445Glu) | |
| 5 | g.13735161T>G | CA359222708 | DNAH5 | c.11731A>C (p.Lys3911Gln) c.11686A>C (p.Lys3896Gln) c.11839A>C (p.Lys3947Gln) c.10744A>C (p.Lys3582Gln) c.6928A>C (p.Lys2310Gln) c.6481A>C (p.Lys2161Gln) c.5818A>C (p.Lys1940Gln) c.10333A>C (p.Lys3445Gln) | |
| 5 | g.13735162G>A | CA443259982 | DNAH5 | c.11730C>T (p.Val3910=) c.11685C>T (p.Val3895=) c.11838C>T (p.Val3946=) c.10743C>T (p.Val3581=) c.6927C>T (p.Val2309=) c.6480C>T (p.Val2160=) c.5817C>T (p.Val1939=) c.10332C>T (p.Val3444=) | |
| 5 | g.13735162G>C | CA443259983 | DNAH5 | c.11730C>G (p.Val3910=) c.11685C>G (p.Val3895=) c.11838C>G (p.Val3946=) c.10743C>G (p.Val3581=) c.6927C>G (p.Val2309=) c.6480C>G (p.Val2160=) c.5817C>G (p.Val1939=) c.10332C>G (p.Val3444=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735162G= | CA1528414812 | DNAH5 | c.11730C= (p.Val3910=) c.11685C= (p.Val3895=) c.11838C= (p.Val3946=) c.10743C= (p.Val3581=) c.6927C= (p.Val2309=) c.6480C= (p.Val2160=) c.5817C= (p.Val1939=) c.10332C= (p.Val3444=) | |
| 5 | g.13735162G>T | CA443259984 | DNAH5 | c.11730C>A (p.Val3910=) c.11685C>A (p.Val3895=) c.11838C>A (p.Val3946=) c.10743C>A (p.Val3581=) c.6927C>A (p.Val2309=) c.6480C>A (p.Val2160=) c.5817C>A (p.Val1939=) c.10332C>A (p.Val3444=) | |
| 5 | g.13735163A>C | CA359222715 | DNAH5 | c.11729T>G (p.Val3910Gly) c.11684T>G (p.Val3895Gly) c.11837T>G (p.Val3946Gly) c.10742T>G (p.Val3581Gly) c.6926T>G (p.Val2309Gly) c.6479T>G (p.Val2160Gly) c.5816T>G (p.Val1939Gly) c.10331T>G (p.Val3444Gly) | |
| 5 | g.13735163A>G | CA359222728 | DNAH5 | c.11729T>C (p.Val3910Ala) c.11684T>C (p.Val3895Ala) c.11837T>C (p.Val3946Ala) c.10742T>C (p.Val3581Ala) c.6926T>C (p.Val2309Ala) c.6479T>C (p.Val2160Ala) c.5816T>C (p.Val1939Ala) c.10331T>C (p.Val3444Ala) | |
| 5 | g.13735163A>T | CA359222732 | DNAH5 | c.11729T>A (p.Val3910Asp) c.11684T>A (p.Val3895Asp) c.11837T>A (p.Val3946Asp) c.10742T>A (p.Val3581Asp) c.6926T>A (p.Val2309Asp) c.6479T>A (p.Val2160Asp) c.5816T>A (p.Val1939Asp) c.10331T>A (p.Val3444Asp) | |
| 5 | g.13735164C>A | CA359222735 | DNAH5 | c.11728G>T (p.Val3910Phe) c.11683G>T (p.Val3895Phe) c.11836G>T (p.Val3946Phe) c.10741G>T (p.Val3581Phe) c.6925G>T (p.Val2309Phe) c.6478G>T (p.Val2160Phe) c.5815G>T (p.Val1939Phe) c.10330G>T (p.Val3444Phe) | |
| 5 | g.13735164C= | CA1528414813 | DNAH5 | c.11728G= (p.Val3910=) c.11683G= (p.Val3895=) c.11836G= (p.Val3946=) c.10741G= (p.Val3581=) c.6925G= (p.Val2309=) c.6478G= (p.Val2160=) c.5815G= (p.Val1939=) c.10330G= (p.Val3444=) | |
| 5 | g.13735164C>G | CA359222741 | DNAH5 | c.11728G>C (p.Val3910Leu) c.11683G>C (p.Val3895Leu) c.11836G>C (p.Val3946Leu) c.10741G>C (p.Val3581Leu) c.6925G>C (p.Val2309Leu) c.6478G>C (p.Val2160Leu) c.5815G>C (p.Val1939Leu) c.10330G>C (p.Val3444Leu) | dbSNP |
| 5 | g.13735164C>T | CA359222750 | DNAH5 | c.11728G>A (p.Val3910Ile) c.11683G>A (p.Val3895Ile) c.11836G>A (p.Val3946Ile) c.10741G>A (p.Val3581Ile) c.6925G>A (p.Val2309Ile) c.6478G>A (p.Val2160Ile) c.5815G>A (p.Val1939Ile) c.10330G>A (p.Val3444Ile) | |
| 5 | g.13735165T>A | CA443259985 | DNAH5 | c.11727A>T (p.Arg3909=) c.11682A>T (p.Arg3894=) c.11835A>T (p.Arg3945=) c.10740A>T (p.Arg3580=) c.6924A>T (p.Arg2308=) c.6477A>T (p.Arg2159=) c.5814A>T (p.Arg1938=) c.10329A>T (p.Arg3443=) | |
| 5 | g.13735165T>C | CA443259986 | DNAH5 | c.11727A>G (p.Arg3909=) c.11682A>G (p.Arg3894=) c.11835A>G (p.Arg3945=) c.10740A>G (p.Arg3580=) c.6924A>G (p.Arg2308=) c.6477A>G (p.Arg2159=) c.5814A>G (p.Arg1938=) c.10329A>G (p.Arg3443=) | |
| 5 | g.13735165T>G | CA443259987 | DNAH5 | c.11727A>C (p.Arg3909=) c.11682A>C (p.Arg3894=) c.11835A>C (p.Arg3945=) c.10740A>C (p.Arg3580=) c.6924A>C (p.Arg2308=) c.6477A>C (p.Arg2159=) c.5814A>C (p.Arg1938=) c.10329A>C (p.Arg3443=) | |
| 5 | g.13735166C>A | CA359222752 | DNAH5 | c.11726G>T (p.Arg3909Leu) c.11681G>T (p.Arg3894Leu) c.11834G>T (p.Arg3945Leu) c.10739G>T (p.Arg3580Leu) c.6923G>T (p.Arg2308Leu) c.6476G>T (p.Arg2159Leu) c.5813G>T (p.Arg1938Leu) c.10328G>T (p.Arg3443Leu) | |
| 5 | g.13735166C= | CA1528414814 | DNAH5 | c.11726G= (p.Arg3909=) c.11681G= (p.Arg3894=) c.11834G= (p.Arg3945=) c.10739G= (p.Arg3580=) c.6923G= (p.Arg2308=) c.6476G= (p.Arg2159=) c.5813G= (p.Arg1938=) c.10328G= (p.Arg3443=) | |
| 5 | g.13735166C>G | CA359222755 | DNAH5 | c.11726G>C (p.Arg3909Pro) c.11681G>C (p.Arg3894Pro) c.11834G>C (p.Arg3945Pro) c.10739G>C (p.Arg3580Pro) c.6923G>C (p.Arg2308Pro) c.6476G>C (p.Arg2159Pro) c.5813G>C (p.Arg1938Pro) c.10328G>C (p.Arg3443Pro) | |
| 5 | g.13735166C>T | CA3201869 | DNAH5 | c.11726G>A (p.Arg3909Gln) c.11681G>A (p.Arg3894Gln) c.11834G>A (p.Arg3945Gln) c.10739G>A (p.Arg3580Gln) c.6923G>A (p.Arg2308Gln) c.6476G>A (p.Arg2159Gln) c.5813G>A (p.Arg1938Gln) c.10328G>A (p.Arg3443Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13735167G>A | CA16611798 | DNAH5 | c.11725C>T (p.Arg3909Ter) c.11680C>T (p.Arg3894Ter) c.11833C>T (p.Arg3945Ter) c.10738C>T (p.Arg3580Ter) c.6922C>T (p.Arg2308Ter) c.6475C>T (p.Arg2159Ter) c.5812C>T (p.Arg1938Ter) c.10327C>T (p.Arg3443Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.13735167G>C | CA359222764 | DNAH5 | c.11725C>G (p.Arg3909Gly) c.11680C>G (p.Arg3894Gly) c.11833C>G (p.Arg3945Gly) c.10738C>G (p.Arg3580Gly) c.6922C>G (p.Arg2308Gly) c.6475C>G (p.Arg2159Gly) c.5812C>G (p.Arg1938Gly) c.10327C>G (p.Arg3443Gly) | |
| 5 | g.13735167G= | CA1528414815 | DNAH5 | c.11725C= (p.Arg3909=) c.11680C= (p.Arg3894=) c.11833C= (p.Arg3945=) c.10738C= (p.Arg3580=) c.6922C= (p.Arg2308=) c.6475C= (p.Arg2159=) c.5812C= (p.Arg1938=) c.10327C= (p.Arg3443=) | |
| 5 | g.13735167G>T | CA443259988 | DNAH5 | c.11725C>A (p.Arg3909=) c.11680C>A (p.Arg3894=) c.11833C>A (p.Arg3945=) c.10738C>A (p.Arg3580=) c.6922C>A (p.Arg2308=) c.6475C>A (p.Arg2159=) c.5812C>A (p.Arg1938=) c.10327C>A (p.Arg3443=) | |
| 5 | g.13735168G>A | CA443259989 | DNAH5 | c.11724C>T (p.Asn3908=) c.11679C>T (p.Asn3893=) c.11832C>T (p.Asn3944=) c.10737C>T (p.Asn3579=) c.6921C>T (p.Asn2307=) c.6474C>T (p.Asn2158=) c.5811C>T (p.Asn1937=) c.10326C>T (p.Asn3442=) | dbSNP gnomAD v4 |
| 5 | g.13735168G>C | CA359222776 | DNAH5 | c.11724C>G (p.Asn3908Lys) c.11679C>G (p.Asn3893Lys) c.11832C>G (p.Asn3944Lys) c.10737C>G (p.Asn3579Lys) c.6921C>G (p.Asn2307Lys) c.6474C>G (p.Asn2158Lys) c.5811C>G (p.Asn1937Lys) c.10326C>G (p.Asn3442Lys) | |
| 5 | g.13735168G= | CA1528414816 | DNAH5 | c.11724C= (p.Asn3908=) c.11679C= (p.Asn3893=) c.11832C= (p.Asn3944=) c.10737C= (p.Asn3579=) c.6921C= (p.Asn2307=) c.6474C= (p.Asn2158=) c.5811C= (p.Asn1937=) c.10326C= (p.Asn3442=) | |
| 5 | g.13735168G>T | CA359222770 | DNAH5 | c.11724C>A (p.Asn3908Lys) c.11679C>A (p.Asn3893Lys) c.11832C>A (p.Asn3944Lys) c.10737C>A (p.Asn3579Lys) c.6921C>A (p.Asn2307Lys) c.6474C>A (p.Asn2158Lys) c.5811C>A (p.Asn1937Lys) c.10326C>A (p.Asn3442Lys) | |
| 5 | g.13735169T>A | CA359222785 | DNAH5 | c.11723A>T (p.Asn3908Ile) c.11678A>T (p.Asn3893Ile) c.11831A>T (p.Asn3944Ile) c.10736A>T (p.Asn3579Ile) c.6920A>T (p.Asn2307Ile) c.6473A>T (p.Asn2158Ile) c.5810A>T (p.Asn1937Ile) c.10325A>T (p.Asn3442Ile) | |
| 5 | g.13735169T>C | CA359222787 | DNAH5 | c.11723A>G (p.Asn3908Ser) c.11678A>G (p.Asn3893Ser) c.11831A>G (p.Asn3944Ser) c.10736A>G (p.Asn3579Ser) c.6920A>G (p.Asn2307Ser) c.6473A>G (p.Asn2158Ser) c.5810A>G (p.Asn1937Ser) c.10325A>G (p.Asn3442Ser) | |
| 5 | g.13735169T>G | CA359222790 | DNAH5 | c.11723A>C (p.Asn3908Thr) c.11678A>C (p.Asn3893Thr) c.11831A>C (p.Asn3944Thr) c.10736A>C (p.Asn3579Thr) c.6920A>C (p.Asn2307Thr) c.6473A>C (p.Asn2158Thr) c.5810A>C (p.Asn1937Thr) c.10325A>C (p.Asn3442Thr) | |
| 5 | g.13735170T>A | CA359222794 | DNAH5 | c.11722A>T (p.Asn3908Tyr) c.11677A>T (p.Asn3893Tyr) c.11830A>T (p.Asn3944Tyr) c.10735A>T (p.Asn3579Tyr) c.6919A>T (p.Asn2307Tyr) c.6472A>T (p.Asn2158Tyr) c.5809A>T (p.Asn1937Tyr) c.10324A>T (p.Asn3442Tyr) | |
| 5 | g.13735170T>C | CA359222802 | DNAH5 | c.11722A>G (p.Asn3908Asp) c.11677A>G (p.Asn3893Asp) c.11830A>G (p.Asn3944Asp) c.10735A>G (p.Asn3579Asp) c.6919A>G (p.Asn2307Asp) c.6472A>G (p.Asn2158Asp) c.5809A>G (p.Asn1937Asp) c.10324A>G (p.Asn3442Asp) | |
| 5 | g.13735170T>G | CA359222806 | DNAH5 | c.11722A>C (p.Asn3908His) c.11677A>C (p.Asn3893His) c.11830A>C (p.Asn3944His) c.10735A>C (p.Asn3579His) c.6919A>C (p.Asn2307His) c.6472A>C (p.Asn2158His) c.5809A>C (p.Asn1937His) c.10324A>C (p.Asn3442His) | COSMIC |
| 5 | g.13735171C>A | CA359222810 | DNAH5 | c.11721G>T (p.Arg3907Ser) c.11676G>T (p.Arg3892Ser) c.11829G>T (p.Arg3943Ser) c.10734G>T (p.Arg3578Ser) c.6918G>T (p.Arg2306Ser) c.6471G>T (p.Arg2157Ser) c.5808G>T (p.Arg1936Ser) c.10323G>T (p.Arg3441Ser) | |
| 5 | g.13735171C>G | CA359222813 | DNAH5 | c.11721G>C (p.Arg3907Ser) c.11676G>C (p.Arg3892Ser) c.11829G>C (p.Arg3943Ser) c.10734G>C (p.Arg3578Ser) c.6918G>C (p.Arg2306Ser) c.6471G>C (p.Arg2157Ser) c.5808G>C (p.Arg1936Ser) c.10323G>C (p.Arg3441Ser) | |
| 5 | g.13735171C>T | CA443259990 | DNAH5 | c.11721G>A (p.Arg3907=) c.11676G>A (p.Arg3892=) c.11829G>A (p.Arg3943=) c.10734G>A (p.Arg3578=) c.6918G>A (p.Arg2306=) c.6471G>A (p.Arg2157=) c.5808G>A (p.Arg1936=) c.10323G>A (p.Arg3441=) | COSMIC |
| 5 | g.13735172C>A | CA359222814 | DNAH5 | c.11720G>T (p.Arg3907Met) c.11675G>T (p.Arg3892Met) c.11828G>T (p.Arg3943Met) c.10733G>T (p.Arg3578Met) c.6917G>T (p.Arg2306Met) c.6470G>T (p.Arg2157Met) c.5807G>T (p.Arg1936Met) c.10322G>T (p.Arg3441Met) | dbSNP gnomAD v2 |
| 5 | g.13735172C= | CA1528414817 | DNAH5 | c.11720G= (p.Arg3907=) c.11675G= (p.Arg3892=) c.11828G= (p.Arg3943=) c.10733G= (p.Arg3578=) c.6917G= (p.Arg2306=) c.6470G= (p.Arg2157=) c.5807G= (p.Arg1936=) c.10322G= (p.Arg3441=) | |
| 5 | g.13735172C>G | CA359222815 | DNAH5 | c.11720G>C (p.Arg3907Thr) c.11675G>C (p.Arg3892Thr) c.11828G>C (p.Arg3943Thr) c.10733G>C (p.Arg3578Thr) c.6917G>C (p.Arg2306Thr) c.6470G>C (p.Arg2157Thr) c.5807G>C (p.Arg1936Thr) c.10322G>C (p.Arg3441Thr) | |
| 5 | g.13735172C>T | CA359222817 | DNAH5 | c.11720G>A (p.Arg3907Lys) c.11675G>A (p.Arg3892Lys) c.11828G>A (p.Arg3943Lys) c.10733G>A (p.Arg3578Lys) c.6917G>A (p.Arg2306Lys) c.6470G>A (p.Arg2157Lys) c.5807G>A (p.Arg1936Lys) c.10322G>A (p.Arg3441Lys) | dbSNP |
| 5 | g.13735173T>A | CA359222820 | DNAH5 | c.11719A>T (p.Arg3907Trp) c.11674A>T (p.Arg3892Trp) c.11827A>T (p.Arg3943Trp) c.10732A>T (p.Arg3578Trp) c.6916A>T (p.Arg2306Trp) c.6469A>T (p.Arg2157Trp) c.5806A>T (p.Arg1936Trp) c.10321A>T (p.Arg3441Trp) | |
| 5 | g.13735173T>C | CA359222821 | DNAH5 | c.11719A>G (p.Arg3907Gly) c.11674A>G (p.Arg3892Gly) c.11827A>G (p.Arg3943Gly) c.10732A>G (p.Arg3578Gly) c.6916A>G (p.Arg2306Gly) c.6469A>G (p.Arg2157Gly) c.5806A>G (p.Arg1936Gly) c.10321A>G (p.Arg3441Gly) | dbSNP |
| 5 | g.13735173T>G | CA443259991 | DNAH5 | c.11719A>C (p.Arg3907=) c.11674A>C (p.Arg3892=) c.11827A>C (p.Arg3943=) c.10732A>C (p.Arg3578=) c.6916A>C (p.Arg2306=) c.6469A>C (p.Arg2157=) c.5806A>C (p.Arg1936=) c.10321A>C (p.Arg3441=) | |
| 5 | g.13735173T= | CA1528414818 | DNAH5 | c.11719A= (p.Arg3907=) c.11674A= (p.Arg3892=) c.11827A= (p.Arg3943=) c.10732A= (p.Arg3578=) c.6916A= (p.Arg2306=) c.6469A= (p.Arg2157=) c.5806A= (p.Arg1936=) c.10321A= (p.Arg3441=) | |
| 5 | g.13735174C>A | CA359222824 | DNAH5 | c.11718G>T (p.Gln3906His) c.11673G>T (p.Gln3891His) c.11826G>T (p.Gln3942His) c.10731G>T (p.Gln3577His) c.6915G>T (p.Gln2305His) c.6468G>T (p.Gln2156His) c.5805G>T (p.Gln1935His) c.10320G>T (p.Gln3440His) | |
| 5 | g.13735174C>G | CA359222822 | DNAH5 | c.11718G>C (p.Gln3906His) c.11673G>C (p.Gln3891His) c.11826G>C (p.Gln3942His) c.10731G>C (p.Gln3577His) c.6915G>C (p.Gln2305His) c.6468G>C (p.Gln2156His) c.5805G>C (p.Gln1935His) c.10320G>C (p.Gln3440His) | gnomAD v4 |
| 5 | g.13735174C>T | CA443259992 | DNAH5 | c.11718G>A (p.Gln3906=) c.11673G>A (p.Gln3891=) c.11826G>A (p.Gln3942=) c.10731G>A (p.Gln3577=) c.6915G>A (p.Gln2305=) c.6468G>A (p.Gln2156=) c.5805G>A (p.Gln1935=) c.10320G>A (p.Gln3440=) | |
| 5 | g.13735175T>A | CA359222827 | DNAH5 | c.11717A>T (p.Gln3906Leu) c.11672A>T (p.Gln3891Leu) c.11825A>T (p.Gln3942Leu) c.10730A>T (p.Gln3577Leu) c.6914A>T (p.Gln2305Leu) c.6467A>T (p.Gln2156Leu) c.5804A>T (p.Gln1935Leu) c.10319A>T (p.Gln3440Leu) | |
| 5 | g.13735175T>C | CA359222829 | DNAH5 | c.11717A>G (p.Gln3906Arg) c.11672A>G (p.Gln3891Arg) c.11825A>G (p.Gln3942Arg) c.10730A>G (p.Gln3577Arg) c.6914A>G (p.Gln2305Arg) c.6467A>G (p.Gln2156Arg) c.5804A>G (p.Gln1935Arg) c.10319A>G (p.Gln3440Arg) | gnomAD v4 |
| 5 | g.13735175T>G | CA359222832 | DNAH5 | c.11717A>C (p.Gln3906Pro) c.11672A>C (p.Gln3891Pro) c.11825A>C (p.Gln3942Pro) c.10730A>C (p.Gln3577Pro) c.6914A>C (p.Gln2305Pro) c.6467A>C (p.Gln2156Pro) c.5804A>C (p.Gln1935Pro) c.10319A>C (p.Gln3440Pro) | |
| 5 | g.13735176G>A | CA359222835 | DNAH5 | c.11716C>T (p.Gln3906Ter) c.11671C>T (p.Gln3891Ter) c.11824C>T (p.Gln3942Ter) c.10729C>T (p.Gln3577Ter) c.6913C>T (p.Gln2305Ter) c.6466C>T (p.Gln2156Ter) c.5803C>T (p.Gln1935Ter) c.10318C>T (p.Gln3440Ter) | |
| 5 | g.13735176G>C | CA359222838 | DNAH5 | c.11716C>G (p.Gln3906Glu) c.11671C>G (p.Gln3891Glu) c.11824C>G (p.Gln3942Glu) c.10729C>G (p.Gln3577Glu) c.6913C>G (p.Gln2305Glu) c.6466C>G (p.Gln2156Glu) c.5803C>G (p.Gln1935Glu) c.10318C>G (p.Gln3440Glu) | |
| 5 | g.13735176G= | CA1528414819 | DNAH5 | c.11716C= (p.Gln3906=) c.11671C= (p.Gln3891=) c.11824C= (p.Gln3942=) c.10729C= (p.Gln3577=) c.6913C= (p.Gln2305=) c.6466C= (p.Gln2156=) c.5803C= (p.Gln1935=) c.10318C= (p.Gln3440=) | |
| 5 | g.13735176G>T | CA359222841 | DNAH5 | c.11716C>A (p.Gln3906Lys) c.11671C>A (p.Gln3891Lys) c.11824C>A (p.Gln3942Lys) c.10729C>A (p.Gln3577Lys) c.6913C>A (p.Gln2305Lys) c.6466C>A (p.Gln2156Lys) c.5803C>A (p.Gln1935Lys) c.10318C>A (p.Gln3440Lys) | |
| 5 | g.13735176_13735177insTCAATT | CA1528414820 | DNAH5 | c.11715_11716insAATTGA c.11670_11671insAATTGA c.11823_11824insAATTGA c.10728_10729insAATTGA c.6912_6913insAATTGA c.6465_6466insAATTGA c.5802_5803insAATTGA c.10317_10318insAATTGA | dbSNP |
| 5 | g.13735177G>A | CA443259993 | DNAH5 | c.11715C>T (p.Ile3905=) c.11670C>T (p.Ile3890=) c.11823C>T (p.Ile3941=) c.10728C>T (p.Ile3576=) c.6912C>T (p.Ile2304=) c.6465C>T (p.Ile2155=) c.5802C>T (p.Ile1934=) c.10317C>T (p.Ile3439=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13735177G>C | CA359222842 | DNAH5 | c.11715C>G (p.Ile3905Met) c.11670C>G (p.Ile3890Met) c.11823C>G (p.Ile3941Met) c.10728C>G (p.Ile3576Met) c.6912C>G (p.Ile2304Met) c.6465C>G (p.Ile2155Met) c.5802C>G (p.Ile1934Met) c.10317C>G (p.Ile3439Met) | |
| 5 | g.13735177G>T | CA443259994 | DNAH5 | c.11715C>A (p.Ile3905=) c.11670C>A (p.Ile3890=) c.11823C>A (p.Ile3941=) c.10728C>A (p.Ile3576=) c.6912C>A (p.Ile2304=) c.6465C>A (p.Ile2155=) c.5802C>A (p.Ile1934=) c.10317C>A (p.Ile3439=) | |
| 5 | g.13735178A= | CA1528414821 | DNAH5 | c.11714T= (p.Ile3905=) c.11669T= (p.Ile3890=) c.11822T= (p.Ile3941=) c.10727T= (p.Ile3576=) c.6911T= (p.Ile2304=) c.6464T= (p.Ile2155=) c.5801T= (p.Ile1934=) c.10316T= (p.Ile3439=) | |
| 5 | g.13735178A>C | CA359222856 | DNAH5 | c.11714T>G (p.Ile3905Ser) c.11669T>G (p.Ile3890Ser) c.11822T>G (p.Ile3941Ser) c.10727T>G (p.Ile3576Ser) c.6911T>G (p.Ile2304Ser) c.6464T>G (p.Ile2155Ser) c.5801T>G (p.Ile1934Ser) c.10316T>G (p.Ile3439Ser) | |
| 5 | g.13735178A>G | CA359222843 | DNAH5 | c.11714T>C (p.Ile3905Thr) c.11669T>C (p.Ile3890Thr) c.11822T>C (p.Ile3941Thr) c.10727T>C (p.Ile3576Thr) c.6911T>C (p.Ile2304Thr) c.6464T>C (p.Ile2155Thr) c.5801T>C (p.Ile1934Thr) c.10316T>C (p.Ile3439Thr) | |
| 5 | g.13735178A>T | CA359222845 | DNAH5 | c.11714T>A (p.Ile3905Asn) c.11669T>A (p.Ile3890Asn) c.11822T>A (p.Ile3941Asn) c.10727T>A (p.Ile3576Asn) c.6911T>A (p.Ile2304Asn) c.6464T>A (p.Ile2155Asn) c.5801T>A (p.Ile1934Asn) c.10316T>A (p.Ile3439Asn) | dbSNP |
| 5 | g.13735178_13735179insCCTC | CA1528414822 | DNAH5 | c.11713_11714insGAGG (p.Ile3905ArgfsTer10) c.11668_11669insGAGG (p.Ile3890ArgfsTer10) c.11821_11822insGAGG (p.Ile3941ArgfsTer10) c.10726_10727insGAGG (p.Ile3576ArgfsTer10) c.6910_6911insGAGG (p.Ile2304ArgfsTer10) c.6463_6464insGAGG (p.Ile2155ArgfsTer10) c.5800_5801insGAGG (p.Ile1934ArgfsTer10) c.10315_10316insGAGG (p.Ile3439ArgfsTer10) | dbSNP |
| 5 | g.13735179T>A | CA359222859 | DNAH5 | c.11713A>T (p.Ile3905Phe) c.11668A>T (p.Ile3890Phe) c.11821A>T (p.Ile3941Phe) c.10726A>T (p.Ile3576Phe) c.6910A>T (p.Ile2304Phe) c.6463A>T (p.Ile2155Phe) c.5800A>T (p.Ile1934Phe) c.10315A>T (p.Ile3439Phe) | |
| 5 | g.13735179T>C | CA359222863 | DNAH5 | c.11713A>G (p.Ile3905Val) c.11668A>G (p.Ile3890Val) c.11821A>G (p.Ile3941Val) c.10726A>G (p.Ile3576Val) c.6910A>G (p.Ile2304Val) c.6463A>G (p.Ile2155Val) c.5800A>G (p.Ile1934Val) c.10315A>G (p.Ile3439Val) | |
| 5 | g.13735179T>G | CA359222865 | DNAH5 | c.11713A>C (p.Ile3905Leu) c.11668A>C (p.Ile3890Leu) c.11821A>C (p.Ile3941Leu) c.10726A>C (p.Ile3576Leu) c.6910A>C (p.Ile2304Leu) c.6463A>C (p.Ile2155Leu) c.5800A>C (p.Ile1934Leu) c.10315A>C (p.Ile3439Leu) | dbSNP |
| 5 | g.13735179T= | CA1528414823 | DNAH5 | c.11713A= (p.Ile3905=) c.11668A= (p.Ile3890=) c.11821A= (p.Ile3941=) c.10726A= (p.Ile3576=) c.6910A= (p.Ile2304=) c.6463A= (p.Ile2155=) c.5800A= (p.Ile1934=) c.10315A= (p.Ile3439=) | |
| 5 | g.13735180G>A | CA443259995 | DNAH5 | c.11712C>T (p.Asp3904=) c.11667C>T (p.Asp3889=) c.11820C>T (p.Asp3940=) c.10725C>T (p.Asp3575=) c.6909C>T (p.Asp2303=) c.6462C>T (p.Asp2154=) c.5799C>T (p.Asp1933=) c.10314C>T (p.Asp3438=) | gnomAD v4 |
| 5 | g.13735180G>C | CA359222869 | DNAH5 | c.11712C>G (p.Asp3904Glu) c.11667C>G (p.Asp3889Glu) c.11820C>G (p.Asp3940Glu) c.10725C>G (p.Asp3575Glu) c.6909C>G (p.Asp2303Glu) c.6462C>G (p.Asp2154Glu) c.5799C>G (p.Asp1933Glu) c.10314C>G (p.Asp3438Glu) | |
| 5 | g.13735180G>T | CA359222872 | DNAH5 | c.11712C>A (p.Asp3904Glu) c.11667C>A (p.Asp3889Glu) c.11820C>A (p.Asp3940Glu) c.10725C>A (p.Asp3575Glu) c.6909C>A (p.Asp2303Glu) c.6462C>A (p.Asp2154Glu) c.5799C>A (p.Asp1933Glu) c.10314C>A (p.Asp3438Glu) | |
| 5 | g.13735181T>A | CA359222876 | DNAH5 | c.11711A>T (p.Asp3904Val) c.11666A>T (p.Asp3889Val) c.11819A>T (p.Asp3940Val) c.10724A>T (p.Asp3575Val) c.6908A>T (p.Asp2303Val) c.6461A>T (p.Asp2154Val) c.5798A>T (p.Asp1933Val) c.10313A>T (p.Asp3438Val) | |
| 5 | g.13735181T>C | CA359222879 | DNAH5 | c.11711A>G (p.Asp3904Gly) c.11666A>G (p.Asp3889Gly) c.11819A>G (p.Asp3940Gly) c.10724A>G (p.Asp3575Gly) c.6908A>G (p.Asp2303Gly) c.6461A>G (p.Asp2154Gly) c.5798A>G (p.Asp1933Gly) c.10313A>G (p.Asp3438Gly) | |
| 5 | g.13735181T>G | CA359222877 | DNAH5 | c.11711A>C (p.Asp3904Ala) c.11666A>C (p.Asp3889Ala) c.11819A>C (p.Asp3940Ala) c.10724A>C (p.Asp3575Ala) c.6908A>C (p.Asp2303Ala) c.6461A>C (p.Asp2154Ala) c.5798A>C (p.Asp1933Ala) c.10313A>C (p.Asp3438Ala) | |
| 5 | g.13735182C>A | CA359222884 | DNAH5 | c.11710G>T (p.Asp3904Tyr) c.11665G>T (p.Asp3889Tyr) c.11818G>T (p.Asp3940Tyr) c.10723G>T (p.Asp3575Tyr) c.6907G>T (p.Asp2303Tyr) c.6460G>T (p.Asp2154Tyr) c.5797G>T (p.Asp1933Tyr) c.10312G>T (p.Asp3438Tyr) | |
| 5 | g.13735182C>G | CA359222887 | DNAH5 | c.11710G>C (p.Asp3904His) c.11665G>C (p.Asp3889His) c.11818G>C (p.Asp3940His) c.10723G>C (p.Asp3575His) c.6907G>C (p.Asp2303His) c.6460G>C (p.Asp2154His) c.5797G>C (p.Asp1933His) c.10312G>C (p.Asp3438His) | |
| 5 | g.13735182C>T | CA359222889 | DNAH5 | c.11710G>A (p.Asp3904Asn) c.11665G>A (p.Asp3889Asn) c.11818G>A (p.Asp3940Asn) c.10723G>A (p.Asp3575Asn) c.6907G>A (p.Asp2303Asn) c.6460G>A (p.Asp2154Asn) c.5797G>A (p.Asp1933Asn) c.10312G>A (p.Asp3438Asn) | gnomAD v4 |
| 5 | g.13735183A>C | CA359222894 | DNAH5 | c.11709T>G (p.Ile3903Met) c.11664T>G (p.Ile3888Met) c.11817T>G (p.Ile3939Met) c.10722T>G (p.Ile3574Met) c.6906T>G (p.Ile2302Met) c.6459T>G (p.Ile2153Met) c.5796T>G (p.Ile1932Met) c.10311T>G (p.Ile3437Met) | |
| 5 | g.13735183A>G | CA443259996 | DNAH5 | c.11709T>C (p.Ile3903=) c.11664T>C (p.Ile3888=) c.11817T>C (p.Ile3939=) c.10722T>C (p.Ile3574=) c.6906T>C (p.Ile2302=) c.6459T>C (p.Ile2153=) c.5796T>C (p.Ile1932=) c.10311T>C (p.Ile3437=) | |
| 5 | g.13735183A>T | CA443259997 | DNAH5 | c.11709T>A (p.Ile3903=) c.11664T>A (p.Ile3888=) c.11817T>A (p.Ile3939=) c.10722T>A (p.Ile3574=) c.6906T>A (p.Ile2302=) c.6459T>A (p.Ile2153=) c.5796T>A (p.Ile1932=) c.10311T>A (p.Ile3437=) | |
| 5 | g.13735184A>C | CA359222911 | DNAH5 | c.11708T>G (p.Ile3903Ser) c.11663T>G (p.Ile3888Ser) c.11816T>G (p.Ile3939Ser) c.10721T>G (p.Ile3574Ser) c.6905T>G (p.Ile2302Ser) c.6458T>G (p.Ile2153Ser) c.5795T>G (p.Ile1932Ser) c.10310T>G (p.Ile3437Ser) | |
| 5 | g.13735184A>G | CA359222913 | DNAH5 | c.11708T>C (p.Ile3903Thr) c.11663T>C (p.Ile3888Thr) c.11816T>C (p.Ile3939Thr) c.10721T>C (p.Ile3574Thr) c.6905T>C (p.Ile2302Thr) c.6458T>C (p.Ile2153Thr) c.5795T>C (p.Ile1932Thr) c.10310T>C (p.Ile3437Thr) | gnomAD v4 |
| 5 | g.13735184A>T | CA359222916 | DNAH5 | c.11708T>A (p.Ile3903Asn) c.11663T>A (p.Ile3888Asn) c.11816T>A (p.Ile3939Asn) c.10721T>A (p.Ile3574Asn) c.6905T>A (p.Ile2302Asn) c.6458T>A (p.Ile2153Asn) c.5795T>A (p.Ile1932Asn) c.10310T>A (p.Ile3437Asn) | |
| 5 | g.13735185T>A | CA359222919 | DNAH5 | c.11707A>T (p.Ile3903Phe) c.11662A>T (p.Ile3888Phe) c.11815A>T (p.Ile3939Phe) c.10720A>T (p.Ile3574Phe) c.6904A>T (p.Ile2302Phe) c.6457A>T (p.Ile2153Phe) c.5794A>T (p.Ile1932Phe) c.10309A>T (p.Ile3437Phe) | |
| 5 | g.13735185T>C | CA359222921 | DNAH5 | c.11707A>G (p.Ile3903Val) c.11662A>G (p.Ile3888Val) c.11815A>G (p.Ile3939Val) c.10720A>G (p.Ile3574Val) c.6904A>G (p.Ile2302Val) c.6457A>G (p.Ile2153Val) c.5794A>G (p.Ile1932Val) c.10309A>G (p.Ile3437Val) | |
| 5 | g.13735185T>G | CA359222923 | DNAH5 | c.11707A>C (p.Ile3903Leu) c.11662A>C (p.Ile3888Leu) c.11815A>C (p.Ile3939Leu) c.10720A>C (p.Ile3574Leu) c.6904A>C (p.Ile2302Leu) c.6457A>C (p.Ile2153Leu) c.5794A>C (p.Ile1932Leu) c.10309A>C (p.Ile3437Leu) | |
| 5 | g.13735186C>A | CA359222925 | DNAH5 | c.11706G>T (p.Lys3902Asn) c.11661G>T (p.Lys3887Asn) c.11814G>T (p.Lys3938Asn) c.10719G>T (p.Lys3573Asn) c.6903G>T (p.Lys2301Asn) c.6456G>T (p.Lys2152Asn) c.5793G>T (p.Lys1931Asn) c.10308G>T (p.Lys3436Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13735186C= | CA1528414824 | DNAH5 | c.11706G= (p.Lys3902=) c.11661G= (p.Lys3887=) c.11814G= (p.Lys3938=) c.10719G= (p.Lys3573=) c.6903G= (p.Lys2301=) c.6456G= (p.Lys2152=) c.5793G= (p.Lys1931=) c.10308G= (p.Lys3436=) | |
| 5 | g.13735186C>G | CA359222928 | DNAH5 | c.11706G>C (p.Lys3902Asn) c.11661G>C (p.Lys3887Asn) c.11814G>C (p.Lys3938Asn) c.10719G>C (p.Lys3573Asn) c.6903G>C (p.Lys2301Asn) c.6456G>C (p.Lys2152Asn) c.5793G>C (p.Lys1931Asn) c.10308G>C (p.Lys3436Asn) | |
| 5 | g.13735186C>T | CA443259998 | DNAH5 | c.11706G>A (p.Lys3902=) c.11661G>A (p.Lys3887=) c.11814G>A (p.Lys3938=) c.10719G>A (p.Lys3573=) c.6903G>A (p.Lys2301=) c.6456G>A (p.Lys2152=) c.5793G>A (p.Lys1931=) c.10308G>A (p.Lys3436=) | |
| 5 | g.13735187T>A | CA359222937 | DNAH5 | c.11705A>T (p.Lys3902Met) c.11660A>T (p.Lys3887Met) c.11813A>T (p.Lys3938Met) c.10718A>T (p.Lys3573Met) c.6902A>T (p.Lys2301Met) c.6455A>T (p.Lys2152Met) c.5792A>T (p.Lys1931Met) c.10307A>T (p.Lys3436Met) | |
| 5 | g.13735187T>C | CA359222933 | DNAH5 | c.11705A>G (p.Lys3902Arg) c.11660A>G (p.Lys3887Arg) c.11813A>G (p.Lys3938Arg) c.10718A>G (p.Lys3573Arg) c.6902A>G (p.Lys2301Arg) c.6455A>G (p.Lys2152Arg) c.5792A>G (p.Lys1931Arg) c.10307A>G (p.Lys3436Arg) | |
| 5 | g.13735187T>G | CA359222931 | DNAH5 | c.11705A>C (p.Lys3902Thr) c.11660A>C (p.Lys3887Thr) c.11813A>C (p.Lys3938Thr) c.10718A>C (p.Lys3573Thr) c.6902A>C (p.Lys2301Thr) c.6455A>C (p.Lys2152Thr) c.5792A>C (p.Lys1931Thr) c.10307A>C (p.Lys3436Thr) | |
| 5 | g.13735189del | CA2580071989 | DNAH5 | c.11705del (p.Lys3902ArgfsTer24) c.11660del (p.Lys3887ArgfsTer24) c.11813del (p.Lys3938ArgfsTer24) c.10718del (p.Lys3573ArgfsTer24) c.11813del (p.Lys3938ArgfsTer?) c.6902del (p.Lys2301ArgfsTer24) c.6455del (p.Lys2152ArgfsTer24) c.5792del (p.Lys1931ArgfsTer24) c.10307del (p.Lys3436ArgfsTer24) | ClinVar |
| 5 | g.13735188T>A | CA359222940 | DNAH5 | c.11704A>T (p.Lys3902Ter) c.11659A>T (p.Lys3887Ter) c.11812A>T (p.Lys3938Ter) c.10717A>T (p.Lys3573Ter) c.6901A>T (p.Lys2301Ter) c.6454A>T (p.Lys2152Ter) c.5791A>T (p.Lys1931Ter) c.10306A>T (p.Lys3436Ter) | |
| 5 | g.13735188T>C | CA359222946 | DNAH5 | c.11704A>G (p.Lys3902Glu) c.11659A>G (p.Lys3887Glu) c.11812A>G (p.Lys3938Glu) c.10717A>G (p.Lys3573Glu) c.6901A>G (p.Lys2301Glu) c.6454A>G (p.Lys2152Glu) c.5791A>G (p.Lys1931Glu) c.10306A>G (p.Lys3436Glu) | dbSNP gnomAD v2 |
| 5 | g.13735188T>G | CA359222943 | DNAH5 | c.11704A>C (p.Lys3902Gln) c.11659A>C (p.Lys3887Gln) c.11812A>C (p.Lys3938Gln) c.10717A>C (p.Lys3573Gln) c.6901A>C (p.Lys2301Gln) c.6454A>C (p.Lys2152Gln) c.5791A>C (p.Lys1931Gln) c.10306A>C (p.Lys3436Gln) | |
| 5 | g.13735188T= | CA1528414825 | DNAH5 | c.11704A= (p.Lys3902=) c.11659A= (p.Lys3887=) c.11812A= (p.Lys3938=) c.10717A= (p.Lys3573=) c.6901A= (p.Lys2301=) c.6454A= (p.Lys2152=) c.5791A= (p.Lys1931=) c.10306A= (p.Lys3436=) | |
| 5 | g.13735189T>A | CA443259999 | DNAH5 | c.11703A>T (p.Leu3901=) c.11658A>T (p.Leu3886=) c.11811A>T (p.Leu3937=) c.10716A>T (p.Leu3572=) c.6900A>T (p.Leu2300=) c.6453A>T (p.Leu2151=) c.5790A>T (p.Leu1930=) c.10305A>T (p.Leu3435=) | |
| 5 | g.13735189T>C | CA3201870 | DNAH5 | c.11703A>G (p.Leu3901=) c.11658A>G (p.Leu3886=) c.11811A>G (p.Leu3937=) c.10716A>G (p.Leu3572=) c.6900A>G (p.Leu2300=) c.6453A>G (p.Leu2151=) c.5790A>G (p.Leu1930=) c.10305A>G (p.Leu3435=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735189T>G | CA443260000 | DNAH5 | c.11703A>C (p.Leu3901=) c.11658A>C (p.Leu3886=) c.11811A>C (p.Leu3937=) c.10716A>C (p.Leu3572=) c.6900A>C (p.Leu2300=) c.6453A>C (p.Leu2151=) c.5790A>C (p.Leu1930=) c.10305A>C (p.Leu3435=) | |
| 5 | g.13735189T= | CA1528414826 | DNAH5 | c.11703A= (p.Leu3901=) c.11658A= (p.Leu3886=) c.11811A= (p.Leu3937=) c.10716A= (p.Leu3572=) c.6900A= (p.Leu2300=) c.6453A= (p.Leu2151=) c.5790A= (p.Leu1930=) c.10305A= (p.Leu3435=) | |
| 5 | g.13735190A= | CA1528414827 | DNAH5 | c.11702T= (p.Leu3901=) c.11657T= (p.Leu3886=) c.11810T= (p.Leu3937=) c.10715T= (p.Leu3572=) c.6899T= (p.Leu2300=) c.6452T= (p.Leu2151=) c.5789T= (p.Leu1930=) c.10304T= (p.Leu3435=) | |
| 5 | g.13735190A>C | CA359222954 | DNAH5 | c.11702T>G (p.Leu3901Arg) c.11657T>G (p.Leu3886Arg) c.11810T>G (p.Leu3937Arg) c.10715T>G (p.Leu3572Arg) c.6899T>G (p.Leu2300Arg) c.6452T>G (p.Leu2151Arg) c.5789T>G (p.Leu1930Arg) c.10304T>G (p.Leu3435Arg) | dbSNP gnomAD v4 |
| 5 | g.13735190A>G | CA359222951 | DNAH5 | c.11702T>C (p.Leu3901Pro) c.11657T>C (p.Leu3886Pro) c.11810T>C (p.Leu3937Pro) c.10715T>C (p.Leu3572Pro) c.6899T>C (p.Leu2300Pro) c.6452T>C (p.Leu2151Pro) c.5789T>C (p.Leu1930Pro) c.10304T>C (p.Leu3435Pro) | dbSNP |
| 5 | g.13735190A>T | CA359222957 | DNAH5 | c.11702T>A (p.Leu3901Gln) c.11657T>A (p.Leu3886Gln) c.11810T>A (p.Leu3937Gln) c.10715T>A (p.Leu3572Gln) c.6899T>A (p.Leu2300Gln) c.6452T>A (p.Leu2151Gln) c.5789T>A (p.Leu1930Gln) c.10304T>A (p.Leu3435Gln) | dbSNP |
| 5 | g.13735191G>A | CA443260001 | DNAH5 | c.11701C>T (p.Leu3901=) c.11656C>T (p.Leu3886=) c.11809C>T (p.Leu3937=) c.10714C>T (p.Leu3572=) c.6898C>T (p.Leu2300=) c.6451C>T (p.Leu2151=) c.5788C>T (p.Leu1930=) c.10303C>T (p.Leu3435=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13735191G>C | CA359222963 | DNAH5 | c.11701C>G (p.Leu3901Val) c.11656C>G (p.Leu3886Val) c.11809C>G (p.Leu3937Val) c.10714C>G (p.Leu3572Val) c.6898C>G (p.Leu2300Val) c.6451C>G (p.Leu2151Val) c.5788C>G (p.Leu1930Val) c.10303C>G (p.Leu3435Val) | |
| 5 | g.13735191G= | CA1528414828 | DNAH5 | c.11701C= (p.Leu3901=) c.11656C= (p.Leu3886=) c.11809C= (p.Leu3937=) c.10714C= (p.Leu3572=) c.6898C= (p.Leu2300=) c.6451C= (p.Leu2151=) c.5788C= (p.Leu1930=) c.10303C= (p.Leu3435=) | |
| 5 | g.13735191G>T | CA359222966 | DNAH5 | c.11701C>A (p.Leu3901Ile) c.11656C>A (p.Leu3886Ile) c.11809C>A (p.Leu3937Ile) c.10714C>A (p.Leu3572Ile) c.6898C>A (p.Leu2300Ile) c.6451C>A (p.Leu2151Ile) c.5788C>A (p.Leu1930Ile) c.10303C>A (p.Leu3435Ile) | |
| 5 | g.13735192G>A | CA443260002 | DNAH5 | c.11700C>T (p.Thr3900=) c.11655C>T (p.Thr3885=) c.11808C>T (p.Thr3936=) c.10713C>T (p.Thr3571=) c.6897C>T (p.Thr2299=) c.6450C>T (p.Thr2150=) c.5787C>T (p.Thr1929=) c.10302C>T (p.Thr3434=) | dbSNP gnomAD v2 |
| 5 | g.13735192G>C | CA3201871 | DNAH5 | c.11700C>G (p.Thr3900=) c.11655C>G (p.Thr3885=) c.11808C>G (p.Thr3936=) c.10713C>G (p.Thr3571=) c.6897C>G (p.Thr2299=) c.6450C>G (p.Thr2150=) c.5787C>G (p.Thr1929=) c.10302C>G (p.Thr3434=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735192G= | CA1528414829 | DNAH5 | c.11700C= (p.Thr3900=) c.11655C= (p.Thr3885=) c.11808C= (p.Thr3936=) c.10713C= (p.Thr3571=) c.6897C= (p.Thr2299=) c.6450C= (p.Thr2150=) c.5787C= (p.Thr1929=) c.10302C= (p.Thr3434=) | |
| 5 | g.13735192G>T | CA443260003 | DNAH5 | c.11700C>A (p.Thr3900=) c.11655C>A (p.Thr3885=) c.11808C>A (p.Thr3936=) c.10713C>A (p.Thr3571=) c.6897C>A (p.Thr2299=) c.6450C>A (p.Thr2150=) c.5787C>A (p.Thr1929=) c.10302C>A (p.Thr3434=) | |
| 5 | g.13735193G>A | CA359222979 | DNAH5 | c.11699C>T (p.Thr3900Ile) c.11654C>T (p.Thr3885Ile) c.11807C>T (p.Thr3936Ile) c.10712C>T (p.Thr3571Ile) c.6896C>T (p.Thr2299Ile) c.6449C>T (p.Thr2150Ile) c.5786C>T (p.Thr1929Ile) c.10301C>T (p.Thr3434Ile) | |
| 5 | g.13735193G>C | CA359222972 | DNAH5 | c.11699C>G (p.Thr3900Ser) c.11654C>G (p.Thr3885Ser) c.11807C>G (p.Thr3936Ser) c.10712C>G (p.Thr3571Ser) c.6896C>G (p.Thr2299Ser) c.6449C>G (p.Thr2150Ser) c.5786C>G (p.Thr1929Ser) c.10301C>G (p.Thr3434Ser) | |
| 5 | g.13735193G>T | CA359222975 | DNAH5 | c.11699C>A (p.Thr3900Asn) c.11654C>A (p.Thr3885Asn) c.11807C>A (p.Thr3936Asn) c.10712C>A (p.Thr3571Asn) c.6896C>A (p.Thr2299Asn) c.6449C>A (p.Thr2150Asn) c.5786C>A (p.Thr1929Asn) c.10301C>A (p.Thr3434Asn) | |
| 5 | g.13735194T>A | CA359222982 | DNAH5 | c.11698A>T (p.Thr3900Ser) c.11653A>T (p.Thr3885Ser) c.11806A>T (p.Thr3936Ser) c.10711A>T (p.Thr3571Ser) c.6895A>T (p.Thr2299Ser) c.6448A>T (p.Thr2150Ser) c.5785A>T (p.Thr1929Ser) c.10300A>T (p.Thr3434Ser) | |
| 5 | g.13735194T>C | CA359222983 | DNAH5 | c.11698A>G (p.Thr3900Ala) c.11653A>G (p.Thr3885Ala) c.11806A>G (p.Thr3936Ala) c.10711A>G (p.Thr3571Ala) c.6895A>G (p.Thr2299Ala) c.6448A>G (p.Thr2150Ala) c.5785A>G (p.Thr1929Ala) c.10300A>G (p.Thr3434Ala) | |
| 5 | g.13735194T>G | CA359222984 | DNAH5 | c.11698A>C (p.Thr3900Pro) c.11653A>C (p.Thr3885Pro) c.11806A>C (p.Thr3936Pro) c.10711A>C (p.Thr3571Pro) c.6895A>C (p.Thr2299Pro) c.6448A>C (p.Thr2150Pro) c.5785A>C (p.Thr1929Pro) c.10300A>C (p.Thr3434Pro) | |
| 5 | g.13735195A>C | CA443260004 | DNAH5 | c.11697T>G (p.Leu3899=) c.11652T>G (p.Leu3884=) c.11805T>G (p.Leu3935=) c.10710T>G (p.Leu3570=) c.6894T>G (p.Leu2298=) c.6447T>G (p.Leu2149=) c.5784T>G (p.Leu1928=) c.10299T>G (p.Leu3433=) | |
| 5 | g.13735195A>G | CA443260005 | DNAH5 | c.11697T>C (p.Leu3899=) c.11652T>C (p.Leu3884=) c.11805T>C (p.Leu3935=) c.10710T>C (p.Leu3570=) c.6894T>C (p.Leu2298=) c.6447T>C (p.Leu2149=) c.5784T>C (p.Leu1928=) c.10299T>C (p.Leu3433=) | |
| 5 | g.13735195A>T | CA443260006 | DNAH5 | c.11697T>A (p.Leu3899=) c.11652T>A (p.Leu3884=) c.11805T>A (p.Leu3935=) c.10710T>A (p.Leu3570=) c.6894T>A (p.Leu2298=) c.6447T>A (p.Leu2149=) c.5784T>A (p.Leu1928=) c.10299T>A (p.Leu3433=) | |
| 5 | g.13735196A>C | CA359222989 | DNAH5 | c.11696T>G (p.Leu3899Arg) c.11651T>G (p.Leu3884Arg) c.11804T>G (p.Leu3935Arg) c.10709T>G (p.Leu3570Arg) c.6893T>G (p.Leu2298Arg) c.6446T>G (p.Leu2149Arg) c.5783T>G (p.Leu1928Arg) c.10298T>G (p.Leu3433Arg) | |
| 5 | g.13735196A>G | CA359222993 | DNAH5 | c.11696T>C (p.Leu3899Pro) c.11651T>C (p.Leu3884Pro) c.11804T>C (p.Leu3935Pro) c.10709T>C (p.Leu3570Pro) c.6893T>C (p.Leu2298Pro) c.6446T>C (p.Leu2149Pro) c.5783T>C (p.Leu1928Pro) c.10298T>C (p.Leu3433Pro) | gnomAD v4 |
| 5 | g.13735196A>T | CA359222996 | DNAH5 | c.11696T>A (p.Leu3899His) c.11651T>A (p.Leu3884His) c.11804T>A (p.Leu3935His) c.10709T>A (p.Leu3570His) c.6893T>A (p.Leu2298His) c.6446T>A (p.Leu2149His) c.5783T>A (p.Leu1928His) c.10298T>A (p.Leu3433His) | |
| 5 | g.13735197G>A | CA359223000 | DNAH5 | c.11695C>T (p.Leu3899Phe) c.11650C>T (p.Leu3884Phe) c.11803C>T (p.Leu3935Phe) c.10708C>T (p.Leu3570Phe) c.6892C>T (p.Leu2298Phe) c.6445C>T (p.Leu2149Phe) c.5782C>T (p.Leu1928Phe) c.10297C>T (p.Leu3433Phe) | gnomAD v4 |
| 5 | g.13735197G>C | CA359223008 | DNAH5 | c.11695C>G (p.Leu3899Val) c.11650C>G (p.Leu3884Val) c.11803C>G (p.Leu3935Val) c.10708C>G (p.Leu3570Val) c.6892C>G (p.Leu2298Val) c.6445C>G (p.Leu2149Val) c.5782C>G (p.Leu1928Val) c.10297C>G (p.Leu3433Val) | |
| 5 | g.13735197G>T | CA359223009 | DNAH5 | c.11695C>A (p.Leu3899Ile) c.11650C>A (p.Leu3884Ile) c.11803C>A (p.Leu3935Ile) c.10708C>A (p.Leu3570Ile) c.6892C>A (p.Leu2298Ile) c.6445C>A (p.Leu2149Ile) c.5782C>A (p.Leu1928Ile) c.10297C>A (p.Leu3433Ile) | |
| 5 | g.13735198C>A | CA3201872 | DNAH5 | c.11694G>T (p.Leu3898Phe) c.11649G>T (p.Leu3883Phe) c.11802G>T (p.Leu3934Phe) c.10707G>T (p.Leu3569Phe) c.6891G>T (p.Leu2297Phe) c.6444G>T (p.Leu2148Phe) c.5781G>T (p.Leu1927Phe) c.10296G>T (p.Leu3432Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735198C= | CA1528414830 | DNAH5 | c.11694G= (p.Leu3898=) c.11649G= (p.Leu3883=) c.11802G= (p.Leu3934=) c.10707G= (p.Leu3569=) c.6891G= (p.Leu2297=) c.6444G= (p.Leu2148=) c.5781G= (p.Leu1927=) c.10296G= (p.Leu3432=) | |
| 5 | g.13735198C>G | CA113926929 | DNAH5 | c.11694G>C (p.Leu3898Phe) c.11649G>C (p.Leu3883Phe) c.11802G>C (p.Leu3934Phe) c.10707G>C (p.Leu3569Phe) c.6891G>C (p.Leu2297Phe) c.6444G>C (p.Leu2148Phe) c.5781G>C (p.Leu1927Phe) c.10296G>C (p.Leu3432Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735198C>T | CA443260007 | DNAH5 | c.11694G>A (p.Leu3898=) c.11649G>A (p.Leu3883=) c.11802G>A (p.Leu3934=) c.10707G>A (p.Leu3569=) c.6891G>A (p.Leu2297=) c.6444G>A (p.Leu2148=) c.5781G>A (p.Leu1927=) c.10296G>A (p.Leu3432=) | |
| 5 | g.13735199A>C | CA359223016 | DNAH5 | c.11693T>G (p.Leu3898Trp) c.11648T>G (p.Leu3883Trp) c.11801T>G (p.Leu3934Trp) c.10706T>G (p.Leu3569Trp) c.6890T>G (p.Leu2297Trp) c.6443T>G (p.Leu2148Trp) c.5780T>G (p.Leu1927Trp) c.10295T>G (p.Leu3432Trp) | gnomAD v4 |
| 5 | g.13735199A>G | CA359223012 | DNAH5 | c.11693T>C (p.Leu3898Ser) c.11648T>C (p.Leu3883Ser) c.11801T>C (p.Leu3934Ser) c.10706T>C (p.Leu3569Ser) c.6890T>C (p.Leu2297Ser) c.6443T>C (p.Leu2148Ser) c.5780T>C (p.Leu1927Ser) c.10295T>C (p.Leu3432Ser) | |
| 5 | g.13735199A>T | CA359223014 | DNAH5 | c.11693T>A (p.Leu3898Ter) c.11648T>A (p.Leu3883Ter) c.11801T>A (p.Leu3934Ter) c.10706T>A (p.Leu3569Ter) c.6890T>A (p.Leu2297Ter) c.6443T>A (p.Leu2148Ter) c.5780T>A (p.Leu1927Ter) c.10295T>A (p.Leu3432Ter) | |
| 5 | g.13735200A>C | CA359223020 | DNAH5 | c.11692T>G (p.Leu3898Val) c.11647T>G (p.Leu3883Val) c.11800T>G (p.Leu3934Val) c.10705T>G (p.Leu3569Val) c.6889T>G (p.Leu2297Val) c.6442T>G (p.Leu2148Val) c.5779T>G (p.Leu1927Val) c.10294T>G (p.Leu3432Val) | |
| 5 | g.13735200A>G | CA443260008 | DNAH5 | c.11692T>C (p.Leu3898=) c.11647T>C (p.Leu3883=) c.11800T>C (p.Leu3934=) c.10705T>C (p.Leu3569=) c.6889T>C (p.Leu2297=) c.6442T>C (p.Leu2148=) c.5779T>C (p.Leu1927=) c.10294T>C (p.Leu3432=) | ClinVar |
| 5 | g.13735200A>T | CA359223023 | DNAH5 | c.11692T>A (p.Leu3898Met) c.11647T>A (p.Leu3883Met) c.11800T>A (p.Leu3934Met) c.10705T>A (p.Leu3569Met) c.6889T>A (p.Leu2297Met) c.6442T>A (p.Leu2148Met) c.5779T>A (p.Leu1927Met) c.10294T>A (p.Leu3432Met) | |
| 5 | g.13735201C>A | CA359223026 | DNAH5 | c.11691G>T (p.Leu3897Phe) c.11646G>T (p.Leu3882Phe) c.11799G>T (p.Leu3933Phe) c.10704G>T (p.Leu3568Phe) c.6888G>T (p.Leu2296Phe) c.6441G>T (p.Leu2147Phe) c.5778G>T (p.Leu1926Phe) c.10293G>T (p.Leu3431Phe) | |
| 5 | g.13735201C>G | CA359223027 | DNAH5 | c.11691G>C (p.Leu3897Phe) c.11646G>C (p.Leu3882Phe) c.11799G>C (p.Leu3933Phe) c.10704G>C (p.Leu3568Phe) c.6888G>C (p.Leu2296Phe) c.6441G>C (p.Leu2147Phe) c.5778G>C (p.Leu1926Phe) c.10293G>C (p.Leu3431Phe) | |
| 5 | g.13735201C>T | CA443260009 | DNAH5 | c.11691G>A (p.Leu3897=) c.11646G>A (p.Leu3882=) c.11799G>A (p.Leu3933=) c.10704G>A (p.Leu3568=) c.6888G>A (p.Leu2296=) c.6441G>A (p.Leu2147=) c.5778G>A (p.Leu1926=) c.10293G>A (p.Leu3431=) | |
| 5 | g.13735202A>C | CA359223029 | DNAH5 | c.11690T>G (p.Leu3897Trp) c.11645T>G (p.Leu3882Trp) c.11798T>G (p.Leu3933Trp) c.10703T>G (p.Leu3568Trp) c.6887T>G (p.Leu2296Trp) c.6440T>G (p.Leu2147Trp) c.5777T>G (p.Leu1926Trp) c.10292T>G (p.Leu3431Trp) | |
| 5 | g.13735202A>G | CA359223032 | DNAH5 | c.11690T>C (p.Leu3897Ser) c.11645T>C (p.Leu3882Ser) c.11798T>C (p.Leu3933Ser) c.10703T>C (p.Leu3568Ser) c.6887T>C (p.Leu2296Ser) c.6440T>C (p.Leu2147Ser) c.5777T>C (p.Leu1926Ser) c.10292T>C (p.Leu3431Ser) | |
| 5 | g.13735202A>T | CA359223035 | DNAH5 | c.11690T>A (p.Leu3897Ter) c.11645T>A (p.Leu3882Ter) c.11798T>A (p.Leu3933Ter) c.10703T>A (p.Leu3568Ter) c.6887T>A (p.Leu2296Ter) c.6440T>A (p.Leu2147Ter) c.5777T>A (p.Leu1926Ter) c.10292T>A (p.Leu3431Ter) | |
| 5 | g.13735203A>C | CA359223036 | DNAH5 | c.11689T>G (p.Leu3897Val) c.11644T>G (p.Leu3882Val) c.11797T>G (p.Leu3933Val) c.10702T>G (p.Leu3568Val) c.6886T>G (p.Leu2296Val) c.6439T>G (p.Leu2147Val) c.5776T>G (p.Leu1926Val) c.10291T>G (p.Leu3431Val) | |
| 5 | g.13735203A>G | CA443260011 | DNAH5 | c.11689T>C (p.Leu3897=) c.11644T>C (p.Leu3882=) c.11797T>C (p.Leu3933=) c.10702T>C (p.Leu3568=) c.6886T>C (p.Leu2296=) c.6439T>C (p.Leu2147=) c.5776T>C (p.Leu1926=) c.10291T>C (p.Leu3431=) | |
| 5 | g.13735203A>T | CA359223037 | DNAH5 | c.11689T>A (p.Leu3897Met) c.11644T>A (p.Leu3882Met) c.11797T>A (p.Leu3933Met) c.10702T>A (p.Leu3568Met) c.6886T>A (p.Leu2296Met) c.6439T>A (p.Leu2147Met) c.5776T>A (p.Leu1926Met) c.10291T>A (p.Leu3431Met) | |
| 5 | g.13735204G>A | CA443260012 | DNAH5 | c.11688C>T (p.Thr3896=) c.11643C>T (p.Thr3881=) c.11796C>T (p.Thr3932=) c.10701C>T (p.Thr3567=) c.6885C>T (p.Thr2295=) c.6438C>T (p.Thr2146=) c.5775C>T (p.Thr1925=) c.10290C>T (p.Thr3430=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13735204G>C | CA443260013 | DNAH5 | c.11688C>G (p.Thr3896=) c.11643C>G (p.Thr3881=) c.11796C>G (p.Thr3932=) c.10701C>G (p.Thr3567=) c.6885C>G (p.Thr2295=) c.6438C>G (p.Thr2146=) c.5775C>G (p.Thr1925=) c.10290C>G (p.Thr3430=) | |
| 5 | g.13735204G= | CA1528414831 | DNAH5 | c.11688C= (p.Thr3896=) c.11643C= (p.Thr3881=) c.11796C= (p.Thr3932=) c.10701C= (p.Thr3567=) c.6885C= (p.Thr2295=) c.6438C= (p.Thr2146=) c.5775C= (p.Thr1925=) c.10290C= (p.Thr3430=) | |
| 5 | g.13735204G>T | CA443260014 | DNAH5 | c.11688C>A (p.Thr3896=) c.11643C>A (p.Thr3881=) c.11796C>A (p.Thr3932=) c.10701C>A (p.Thr3567=) c.6885C>A (p.Thr2295=) c.6438C>A (p.Thr2146=) c.5775C>A (p.Thr1925=) c.10290C>A (p.Thr3430=) | |
| 5 | g.13735205G>A | CA3201873 | DNAH5 | c.11687C>T (p.Thr3896Ile) c.11642C>T (p.Thr3881Ile) c.11795C>T (p.Thr3932Ile) c.10700C>T (p.Thr3567Ile) c.6884C>T (p.Thr2295Ile) c.6437C>T (p.Thr2146Ile) c.5774C>T (p.Thr1925Ile) c.10289C>T (p.Thr3430Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735205G>C | CA359223040 | DNAH5 | c.11687C>G (p.Thr3896Ser) c.11642C>G (p.Thr3881Ser) c.11795C>G (p.Thr3932Ser) c.10700C>G (p.Thr3567Ser) c.6884C>G (p.Thr2295Ser) c.6437C>G (p.Thr2146Ser) c.5774C>G (p.Thr1925Ser) c.10289C>G (p.Thr3430Ser) | gnomAD v4 |
| 5 | g.13735205G= | CA1528414832 | DNAH5 | c.11687C= (p.Thr3896=) c.11642C= (p.Thr3881=) c.11795C= (p.Thr3932=) c.10700C= (p.Thr3567=) c.6884C= (p.Thr2295=) c.6437C= (p.Thr2146=) c.5774C= (p.Thr1925=) c.10289C= (p.Thr3430=) | |
| 5 | g.13735205G>T | CA359223041 | DNAH5 | c.11687C>A (p.Thr3896Asn) c.11642C>A (p.Thr3881Asn) c.11795C>A (p.Thr3932Asn) c.10700C>A (p.Thr3567Asn) c.6884C>A (p.Thr2295Asn) c.6437C>A (p.Thr2146Asn) c.5774C>A (p.Thr1925Asn) c.10289C>A (p.Thr3430Asn) | |
| 5 | g.13735206T>A | CA359223042 | DNAH5 | c.11686A>T (p.Thr3896Ser) c.11641A>T (p.Thr3881Ser) c.11794A>T (p.Thr3932Ser) c.10699A>T (p.Thr3567Ser) c.6883A>T (p.Thr2295Ser) c.6436A>T (p.Thr2146Ser) c.5773A>T (p.Thr1925Ser) c.10288A>T (p.Thr3430Ser) | |
| 5 | g.13735206T>C | CA3201874 | DNAH5 | c.11686A>G (p.Thr3896Ala) c.11641A>G (p.Thr3881Ala) c.11794A>G (p.Thr3932Ala) c.10699A>G (p.Thr3567Ala) c.6883A>G (p.Thr2295Ala) c.6436A>G (p.Thr2146Ala) c.5773A>G (p.Thr1925Ala) c.10288A>G (p.Thr3430Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13735206T>G | CA359223044 | DNAH5 | c.11686A>C (p.Thr3896Pro) c.11641A>C (p.Thr3881Pro) c.11794A>C (p.Thr3932Pro) c.10699A>C (p.Thr3567Pro) c.6883A>C (p.Thr2295Pro) c.6436A>C (p.Thr2146Pro) c.5773A>C (p.Thr1925Pro) c.10288A>C (p.Thr3430Pro) | |
| 5 | g.13735206T= | CA1528414833 | DNAH5 | c.11686A= (p.Thr3896=) c.11641A= (p.Thr3881=) c.11794A= (p.Thr3932=) c.10699A= (p.Thr3567=) c.6883A= (p.Thr2295=) c.6436A= (p.Thr2146=) c.5773A= (p.Thr1925=) c.10288A= (p.Thr3430=) | |
| 5 | g.13735207G>A | CA443260015 | DNAH5 | c.11685C>T (p.Phe3895=) c.11640C>T (p.Phe3880=) c.11793C>T (p.Phe3931=) c.10698C>T (p.Phe3566=) c.6882C>T (p.Phe2294=) c.6435C>T (p.Phe2145=) c.5772C>T (p.Phe1924=) c.10287C>T (p.Phe3429=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735207G>C | CA3201875 | DNAH5 | c.11685C>G (p.Phe3895Leu) c.11640C>G (p.Phe3880Leu) c.11793C>G (p.Phe3931Leu) c.10698C>G (p.Phe3566Leu) c.6882C>G (p.Phe2294Leu) c.6435C>G (p.Phe2145Leu) c.5772C>G (p.Phe1924Leu) c.10287C>G (p.Phe3429Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735207G= | CA1528414834 | DNAH5 | c.11685C= (p.Phe3895=) c.11640C= (p.Phe3880=) c.11793C= (p.Phe3931=) c.10698C= (p.Phe3566=) c.6882C= (p.Phe2294=) c.6435C= (p.Phe2145=) c.5772C= (p.Phe1924=) c.10287C= (p.Phe3429=) | |
| 5 | g.13735207G>T | CA359223080 | DNAH5 | c.11685C>A (p.Phe3895Leu) c.11640C>A (p.Phe3880Leu) c.11793C>A (p.Phe3931Leu) c.10698C>A (p.Phe3566Leu) c.6882C>A (p.Phe2294Leu) c.6435C>A (p.Phe2145Leu) c.5772C>A (p.Phe1924Leu) c.10287C>A (p.Phe3429Leu) | |
| 5 | g.13735208A>C | CA359223082 | DNAH5 | c.11684T>G (p.Phe3895Cys) c.11639T>G (p.Phe3880Cys) c.11792T>G (p.Phe3931Cys) c.10697T>G (p.Phe3566Cys) c.6881T>G (p.Phe2294Cys) c.6434T>G (p.Phe2145Cys) c.5771T>G (p.Phe1924Cys) c.10286T>G (p.Phe3429Cys) | |
| 5 | g.13735208A>G | CA359223083 | DNAH5 | c.11684T>C (p.Phe3895Ser) c.11639T>C (p.Phe3880Ser) c.11792T>C (p.Phe3931Ser) c.10697T>C (p.Phe3566Ser) c.6881T>C (p.Phe2294Ser) c.6434T>C (p.Phe2145Ser) c.5771T>C (p.Phe1924Ser) c.10286T>C (p.Phe3429Ser) | |
| 5 | g.13735208A>T | CA359223085 | DNAH5 | c.11684T>A (p.Phe3895Tyr) c.11639T>A (p.Phe3880Tyr) c.11792T>A (p.Phe3931Tyr) c.10697T>A (p.Phe3566Tyr) c.6881T>A (p.Phe2294Tyr) c.6434T>A (p.Phe2145Tyr) c.5771T>A (p.Phe1924Tyr) c.10286T>A (p.Phe3429Tyr) | |
| 5 | g.13735209A>C | CA359223087 | DNAH5 | c.11683T>G (p.Phe3895Val) c.11638T>G (p.Phe3880Val) c.11791T>G (p.Phe3931Val) c.10696T>G (p.Phe3566Val) c.6880T>G (p.Phe2294Val) c.6433T>G (p.Phe2145Val) c.5770T>G (p.Phe1924Val) c.10285T>G (p.Phe3429Val) | |
| 5 | g.13735209A>G | CA359223091 | DNAH5 | c.11683T>C (p.Phe3895Leu) c.11638T>C (p.Phe3880Leu) c.11791T>C (p.Phe3931Leu) c.10696T>C (p.Phe3566Leu) c.6880T>C (p.Phe2294Leu) c.6433T>C (p.Phe2145Leu) c.5770T>C (p.Phe1924Leu) c.10285T>C (p.Phe3429Leu) | |
| 5 | g.13735209A>T | CA359223093 | DNAH5 | c.11683T>A (p.Phe3895Ile) c.11638T>A (p.Phe3880Ile) c.11791T>A (p.Phe3931Ile) c.10696T>A (p.Phe3566Ile) c.6880T>A (p.Phe2294Ile) c.6433T>A (p.Phe2145Ile) c.5770T>A (p.Phe1924Ile) c.10285T>A (p.Phe3429Ile) | |
| 5 | g.13735210C>A | CA113926944 | DNAH5 | c.11682G>T (p.Leu3894=) c.11637G>T (p.Leu3879=) c.11790G>T (p.Leu3930=) c.10695G>T (p.Leu3565=) c.6879G>T (p.Leu2293=) c.6432G>T (p.Leu2144=) c.5769G>T (p.Leu1923=) c.10284G>T (p.Leu3428=) | dbSNP |
| 5 | g.13735210C= | CA1528414835 | DNAH5 | c.11682G= (p.Leu3894=) c.11637G= (p.Leu3879=) c.11790G= (p.Leu3930=) c.10695G= (p.Leu3565=) c.6879G= (p.Leu2293=) c.6432G= (p.Leu2144=) c.5769G= (p.Leu1923=) c.10284G= (p.Leu3428=) | |
| 5 | g.13735210C>G | CA443260017 | DNAH5 | c.11682G>C (p.Leu3894=) c.11637G>C (p.Leu3879=) c.11790G>C (p.Leu3930=) c.10695G>C (p.Leu3565=) c.6879G>C (p.Leu2293=) c.6432G>C (p.Leu2144=) c.5769G>C (p.Leu1923=) c.10284G>C (p.Leu3428=) | |
| 5 | g.13735210C>T | CA443260016 | DNAH5 | c.11682G>A (p.Leu3894=) c.11637G>A (p.Leu3879=) c.11790G>A (p.Leu3930=) c.10695G>A (p.Leu3565=) c.6879G>A (p.Leu2293=) c.6432G>A (p.Leu2144=) c.5769G>A (p.Leu1923=) c.10284G>A (p.Leu3428=) | |
| 5 | g.13735211A= | CA1528414836 | DNAH5 | c.11681T= (p.Leu3894=) c.11636T= (p.Leu3879=) c.11789T= (p.Leu3930=) c.10694T= (p.Leu3565=) c.6878T= (p.Leu2293=) c.6431T= (p.Leu2144=) c.5768T= (p.Leu1923=) c.10283T= (p.Leu3428=) | |
| 5 | g.13735211A>C | CA359223098 | DNAH5 | c.11681T>G (p.Leu3894Arg) c.11636T>G (p.Leu3879Arg) c.11789T>G (p.Leu3930Arg) c.10694T>G (p.Leu3565Arg) c.6878T>G (p.Leu2293Arg) c.6431T>G (p.Leu2144Arg) c.5768T>G (p.Leu1923Arg) c.10283T>G (p.Leu3428Arg) | |
| 5 | g.13735211A>G | CA3201876 | DNAH5 | c.11681T>C (p.Leu3894Pro) c.11636T>C (p.Leu3879Pro) c.11789T>C (p.Leu3930Pro) c.10694T>C (p.Leu3565Pro) c.6878T>C (p.Leu2293Pro) c.6431T>C (p.Leu2144Pro) c.5768T>C (p.Leu1923Pro) c.10283T>C (p.Leu3428Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735211A>T | CA3201877 | DNAH5 | c.11681T>A (p.Leu3894Gln) c.11636T>A (p.Leu3879Gln) c.11789T>A (p.Leu3930Gln) c.10694T>A (p.Leu3565Gln) c.6878T>A (p.Leu2293Gln) c.6431T>A (p.Leu2144Gln) c.5768T>A (p.Leu1923Gln) c.10283T>A (p.Leu3428Gln) | dbSNP ExAC |
| 5 | g.13735212G>A | CA443260018 | DNAH5 | c.11680C>T (p.Leu3894=) c.11635C>T (p.Leu3879=) c.11788C>T (p.Leu3930=) c.10693C>T (p.Leu3565=) c.6877C>T (p.Leu2293=) c.6430C>T (p.Leu2144=) c.5767C>T (p.Leu1923=) c.10282C>T (p.Leu3428=) | |
| 5 | g.13735212G>C | CA359223105 | DNAH5 | c.11680C>G (p.Leu3894Val) c.11635C>G (p.Leu3879Val) c.11788C>G (p.Leu3930Val) c.10693C>G (p.Leu3565Val) c.6877C>G (p.Leu2293Val) c.6430C>G (p.Leu2144Val) c.5767C>G (p.Leu1923Val) c.10282C>G (p.Leu3428Val) | |
| 5 | g.13735212G>T | CA359223108 | DNAH5 | c.11680C>A (p.Leu3894Met) c.11635C>A (p.Leu3879Met) c.11788C>A (p.Leu3930Met) c.10693C>A (p.Leu3565Met) c.6877C>A (p.Leu2293Met) c.6430C>A (p.Leu2144Met) c.5767C>A (p.Leu1923Met) c.10282C>A (p.Leu3428Met) | |
| 5 | g.13735212_13735216dup | CA2580071990 | DNAH5 | c.11676_11680dup (p.Leu3894HisfsTer10) c.11631_11635dup (p.Leu3879HisfsTer10) c.11784_11788dup (p.Leu3930HisfsTer10) c.10689_10693dup (p.Leu3565HisfsTer10) c.6873_6877dup (p.Leu2293HisfsTer10) c.6426_6430dup (p.Leu2144HisfsTer10) c.5763_5767dup (p.Leu1923HisfsTer10) c.10278_10282dup (p.Leu3428HisfsTer10) | ClinVar |
| 5 | g.13735213G>A | CA443260019 | DNAH5 | c.11679C>T (p.Phe3893=) c.11634C>T (p.Phe3878=) c.11787C>T (p.Phe3929=) c.10692C>T (p.Phe3564=) c.6876C>T (p.Phe2292=) c.6429C>T (p.Phe2143=) c.5766C>T (p.Phe1922=) c.10281C>T (p.Phe3427=) | gnomAD v4 COSMIC |
| 5 | g.13735213G>C | CA359223110 | DNAH5 | c.11679C>G (p.Phe3893Leu) c.11634C>G (p.Phe3878Leu) c.11787C>G (p.Phe3929Leu) c.10692C>G (p.Phe3564Leu) c.6876C>G (p.Phe2292Leu) c.6429C>G (p.Phe2143Leu) c.5766C>G (p.Phe1922Leu) c.10281C>G (p.Phe3427Leu) | |
| 5 | g.13735213G>T | CA359223114 | DNAH5 | c.11679C>A (p.Phe3893Leu) c.11634C>A (p.Phe3878Leu) c.11787C>A (p.Phe3929Leu) c.10692C>A (p.Phe3564Leu) c.6876C>A (p.Phe2292Leu) c.6429C>A (p.Phe2143Leu) c.5766C>A (p.Phe1922Leu) c.10281C>A (p.Phe3427Leu) |