Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.13691989T>A | CA359188486 | DNAH5 | n.1203A>T c.13870A>T (p.Lys4624Ter) c.13825A>T (p.Lys4609Ter) c.13978A>T (p.Lys4660Ter) c.13558A>T (p.Lys4520Ter) c.12883A>T (p.Lys4295Ter) c.9067A>T (p.Lys3023Ter) c.8620A>T (p.Lys2874Ter) c.7957A>T (p.Lys2653Ter) c.12472A>T (p.Lys4158Ter) | |
5 | g.13691989T>C | CA359188487 | DNAH5 | n.1203A>G c.13870A>G (p.Lys4624Glu) c.13825A>G (p.Lys4609Glu) c.13978A>G (p.Lys4660Glu) c.13558A>G (p.Lys4520Glu) c.12883A>G (p.Lys4295Glu) c.9067A>G (p.Lys3023Glu) c.8620A>G (p.Lys2874Glu) c.7957A>G (p.Lys2653Glu) c.12472A>G (p.Lys4158Glu) | |
5 | g.13691989T>G | CA359188488 | DNAH5 | n.1203A>C c.13870A>C (p.Lys4624Gln) c.13825A>C (p.Lys4609Gln) c.13978A>C (p.Lys4660Gln) c.13558A>C (p.Lys4520Gln) c.12883A>C (p.Lys4295Gln) c.9067A>C (p.Lys3023Gln) c.8620A>C (p.Lys2874Gln) c.7957A>C (p.Lys2653Gln) c.12472A>C (p.Lys4158Gln) | |
5 | g.13691990G>A | CA443248587 | DNAH5 | n.1202C>T c.13869C>T (p.Val4623=) c.13824C>T (p.Val4608=) c.13977C>T (p.Val4659=) c.13557C>T (p.Val4519=) c.12882C>T (p.Val4294=) c.9066C>T (p.Val3022=) c.8619C>T (p.Val2873=) c.7956C>T (p.Val2652=) c.12471C>T (p.Val4157=) | gnomAD v4 |
5 | g.13691990G>C | CA443248588 | DNAH5 | n.1202C>G c.13869C>G (p.Val4623=) c.13824C>G (p.Val4608=) c.13977C>G (p.Val4659=) c.13557C>G (p.Val4519=) c.12882C>G (p.Val4294=) c.9066C>G (p.Val3022=) c.8619C>G (p.Val2873=) c.7956C>G (p.Val2652=) c.12471C>G (p.Val4157=) | ClinVar dbSNP |
5 | g.13691990G= | CA1528395836 | DNAH5 | n.1202C= c.13869C= (p.Val4623=) c.13824C= (p.Val4608=) c.13977C= (p.Val4659=) c.13557C= (p.Val4519=) c.12882C= (p.Val4294=) c.9066C= (p.Val3022=) c.8619C= (p.Val2873=) c.7956C= (p.Val2652=) c.12471C= (p.Val4157=) | |
5 | g.13691990G>T | CA443248590 | DNAH5 | n.1202C>A c.13869C>A (p.Val4623=) c.13824C>A (p.Val4608=) c.13977C>A (p.Val4659=) c.13557C>A (p.Val4519=) c.12882C>A (p.Val4294=) c.9066C>A (p.Val3022=) c.8619C>A (p.Val2873=) c.7956C>A (p.Val2652=) c.12471C>A (p.Val4157=) | gnomAD v4 |
5 | g.13691991A>C | CA359188489 | DNAH5 | n.1201T>G c.13868T>G (p.Val4623Gly) c.13823T>G (p.Val4608Gly) c.13976T>G (p.Val4659Gly) c.13556T>G (p.Val4519Gly) c.12881T>G (p.Val4294Gly) c.9065T>G (p.Val3022Gly) c.8618T>G (p.Val2873Gly) c.7955T>G (p.Val2652Gly) c.12470T>G (p.Val4157Gly) | |
5 | g.13691991A>G | CA359188491 | DNAH5 | n.1201T>C c.13868T>C (p.Val4623Ala) c.13823T>C (p.Val4608Ala) c.13976T>C (p.Val4659Ala) c.13556T>C (p.Val4519Ala) c.12881T>C (p.Val4294Ala) c.9065T>C (p.Val3022Ala) c.8618T>C (p.Val2873Ala) c.7955T>C (p.Val2652Ala) c.12470T>C (p.Val4157Ala) | |
5 | g.13691991A>T | CA359188490 | DNAH5 | n.1201T>A c.13868T>A (p.Val4623Asp) c.13823T>A (p.Val4608Asp) c.13976T>A (p.Val4659Asp) c.13556T>A (p.Val4519Asp) c.12881T>A (p.Val4294Asp) c.9065T>A (p.Val3022Asp) c.8618T>A (p.Val2873Asp) c.7955T>A (p.Val2652Asp) c.12470T>A (p.Val4157Asp) | |
5 | g.13691992C>A | CA359188492 | DNAH5 | n.1200G>T c.13867G>T (p.Val4623Phe) c.13822G>T (p.Val4608Phe) c.13975G>T (p.Val4659Phe) c.13555G>T (p.Val4519Phe) c.12880G>T (p.Val4294Phe) c.9064G>T (p.Val3022Phe) c.8617G>T (p.Val2873Phe) c.7954G>T (p.Val2652Phe) c.12469G>T (p.Val4157Phe) | |
5 | g.13691992C>G | CA359188494 | DNAH5 | n.1200G>C c.13867G>C (p.Val4623Leu) c.13822G>C (p.Val4608Leu) c.13975G>C (p.Val4659Leu) c.13555G>C (p.Val4519Leu) c.12880G>C (p.Val4294Leu) c.9064G>C (p.Val3022Leu) c.8617G>C (p.Val2873Leu) c.7954G>C (p.Val2652Leu) c.12469G>C (p.Val4157Leu) | |
5 | g.13691992C>T | CA359188493 | DNAH5 | n.1200G>A c.13867G>A (p.Val4623Ile) c.13822G>A (p.Val4608Ile) c.13975G>A (p.Val4659Ile) c.13555G>A (p.Val4519Ile) c.12880G>A (p.Val4294Ile) c.9064G>A (p.Val3022Ile) c.8617G>A (p.Val2873Ile) c.7954G>A (p.Val2652Ile) c.12469G>A (p.Val4157Ile) | |
5 | g.13691993A= | CA1528395837 | DNAH5 | n.1199T= c.13866T= (p.Asp4622=) c.13821T= (p.Asp4607=) c.13974T= (p.Asp4658=) c.13554T= (p.Asp4518=) c.12879T= (p.Asp4293=) c.9063T= (p.Asp3021=) c.8616T= (p.Asp2872=) c.7953T= (p.Asp2651=) c.12468T= (p.Asp4156=) | |
5 | g.13691993A>C | CA359188495 | DNAH5 | n.1199T>G c.13866T>G (p.Asp4622Glu) c.13821T>G (p.Asp4607Glu) c.13974T>G (p.Asp4658Glu) c.13554T>G (p.Asp4518Glu) c.12879T>G (p.Asp4293Glu) c.9063T>G (p.Asp3021Glu) c.8616T>G (p.Asp2872Glu) c.7953T>G (p.Asp2651Glu) c.12468T>G (p.Asp4156Glu) | |
5 | g.13691993A>G | CA443248593 | DNAH5 | n.1199T>C c.13866T>C (p.Asp4622=) c.13821T>C (p.Asp4607=) c.13974T>C (p.Asp4658=) c.13554T>C (p.Asp4518=) c.12879T>C (p.Asp4293=) c.9063T>C (p.Asp3021=) c.8616T>C (p.Asp2872=) c.7953T>C (p.Asp2651=) c.12468T>C (p.Asp4156=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13691993A>T | CA359188496 | DNAH5 | n.1199T>A c.13866T>A (p.Asp4622Glu) c.13821T>A (p.Asp4607Glu) c.13974T>A (p.Asp4658Glu) c.13554T>A (p.Asp4518Glu) c.12879T>A (p.Asp4293Glu) c.9063T>A (p.Asp3021Glu) c.8616T>A (p.Asp2872Glu) c.7953T>A (p.Asp2651Glu) c.12468T>A (p.Asp4156Glu) | |
5 | g.13691994T>A | CA359188497 | DNAH5 | n.1198A>T c.13865A>T (p.Asp4622Val) c.13820A>T (p.Asp4607Val) c.13973A>T (p.Asp4658Val) c.13553A>T (p.Asp4518Val) c.12878A>T (p.Asp4293Val) c.9062A>T (p.Asp3021Val) c.8615A>T (p.Asp2872Val) c.7952A>T (p.Asp2651Val) c.12467A>T (p.Asp4156Val) | COSMIC |
5 | g.13691994T>C | CA359188498 | DNAH5 | n.1198A>G c.13865A>G (p.Asp4622Gly) c.13820A>G (p.Asp4607Gly) c.13973A>G (p.Asp4658Gly) c.13553A>G (p.Asp4518Gly) c.12878A>G (p.Asp4293Gly) c.9062A>G (p.Asp3021Gly) c.8615A>G (p.Asp2872Gly) c.7952A>G (p.Asp2651Gly) c.12467A>G (p.Asp4156Gly) | |
5 | g.13691994T>G | CA359188499 | DNAH5 | n.1198A>C c.13865A>C (p.Asp4622Ala) c.13820A>C (p.Asp4607Ala) c.13973A>C (p.Asp4658Ala) c.13553A>C (p.Asp4518Ala) c.12878A>C (p.Asp4293Ala) c.9062A>C (p.Asp3021Ala) c.8615A>C (p.Asp2872Ala) c.7952A>C (p.Asp2651Ala) c.12467A>C (p.Asp4156Ala) | |
5 | g.13691995C>A | CA359188500 | DNAH5 | n.1197G>T c.13864G>T (p.Asp4622Tyr) c.13819G>T (p.Asp4607Tyr) c.13972G>T (p.Asp4658Tyr) c.13552G>T (p.Asp4518Tyr) c.12877G>T (p.Asp4293Tyr) c.9061G>T (p.Asp3021Tyr) c.8614G>T (p.Asp2872Tyr) c.7951G>T (p.Asp2651Tyr) c.12466G>T (p.Asp4156Tyr) | |
5 | g.13691995C>G | CA359188501 | DNAH5 | n.1197G>C c.13864G>C (p.Asp4622His) c.13819G>C (p.Asp4607His) c.13972G>C (p.Asp4658His) c.13552G>C (p.Asp4518His) c.12877G>C (p.Asp4293His) c.9061G>C (p.Asp3021His) c.8614G>C (p.Asp2872His) c.7951G>C (p.Asp2651His) c.12466G>C (p.Asp4156His) | |
5 | g.13691995C>T | CA359188502 | DNAH5 | n.1197G>A c.13864G>A (p.Asp4622Asn) c.13819G>A (p.Asp4607Asn) c.13972G>A (p.Asp4658Asn) c.13552G>A (p.Asp4518Asn) c.12877G>A (p.Asp4293Asn) c.9061G>A (p.Asp3021Asn) c.8614G>A (p.Asp2872Asn) c.7951G>A (p.Asp2651Asn) c.12466G>A (p.Asp4156Asn) | COSMIC |
5 | g.13691996A= | CA1528395838 | DNAH5 | n.1196T= c.13863T= (p.Cys4621=) c.13818T= (p.Cys4606=) c.13971T= (p.Cys4657=) c.13551T= (p.Cys4517=) c.12876T= (p.Cys4292=) c.9060T= (p.Cys3020=) c.8613T= (p.Cys2871=) c.7950T= (p.Cys2650=) c.12465T= (p.Cys4155=) | |
5 | g.13691996A>C | CA359188503 | DNAH5 | n.1196T>G c.13863T>G (p.Cys4621Trp) c.13818T>G (p.Cys4606Trp) c.13971T>G (p.Cys4657Trp) c.13551T>G (p.Cys4517Trp) c.12876T>G (p.Cys4292Trp) c.9060T>G (p.Cys3020Trp) c.8613T>G (p.Cys2871Trp) c.7950T>G (p.Cys2650Trp) c.12465T>G (p.Cys4155Trp) | |
5 | g.13691996A>G | CA443248597 | DNAH5 | n.1196T>C c.13863T>C (p.Cys4621=) c.13818T>C (p.Cys4606=) c.13971T>C (p.Cys4657=) c.13551T>C (p.Cys4517=) c.12876T>C (p.Cys4292=) c.9060T>C (p.Cys3020=) c.8613T>C (p.Cys2871=) c.7950T>C (p.Cys2650=) c.12465T>C (p.Cys4155=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13691996A>T | CA359188504 | DNAH5 | n.1196T>A c.13863T>A (p.Cys4621Ter) c.13818T>A (p.Cys4606Ter) c.13971T>A (p.Cys4657Ter) c.13551T>A (p.Cys4517Ter) c.12876T>A (p.Cys4292Ter) c.9060T>A (p.Cys3020Ter) c.8613T>A (p.Cys2871Ter) c.7950T>A (p.Cys2650Ter) c.12465T>A (p.Cys4155Ter) | |
5 | g.13691997C>A | CA359188507 | DNAH5 | n.1195G>T c.13862G>T (p.Cys4621Phe) c.13817G>T (p.Cys4606Phe) c.13970G>T (p.Cys4657Phe) c.13550G>T (p.Cys4517Phe) c.12875G>T (p.Cys4292Phe) c.9059G>T (p.Cys3020Phe) c.8612G>T (p.Cys2871Phe) c.7949G>T (p.Cys2650Phe) c.12464G>T (p.Cys4155Phe) | |
5 | g.13691997C= | CA1528395839 | DNAH5 | n.1195G= c.13862G= (p.Cys4621=) c.13817G= (p.Cys4606=) c.13970G= (p.Cys4657=) c.13550G= (p.Cys4517=) c.12875G= (p.Cys4292=) c.9059G= (p.Cys3020=) c.8612G= (p.Cys2871=) c.7949G= (p.Cys2650=) c.12464G= (p.Cys4155=) | |
5 | g.13691997C>G | CA359188506 | DNAH5 | n.1195G>C c.13862G>C (p.Cys4621Ser) c.13817G>C (p.Cys4606Ser) c.13970G>C (p.Cys4657Ser) c.13550G>C (p.Cys4517Ser) c.12875G>C (p.Cys4292Ser) c.9059G>C (p.Cys3020Ser) c.8612G>C (p.Cys2871Ser) c.7949G>C (p.Cys2650Ser) c.12464G>C (p.Cys4155Ser) | ClinVar |
5 | g.13691997C>T | CA359188505 | DNAH5 | n.1195G>A c.13862G>A (p.Cys4621Tyr) c.13817G>A (p.Cys4606Tyr) c.13970G>A (p.Cys4657Tyr) c.13550G>A (p.Cys4517Tyr) c.12875G>A (p.Cys4292Tyr) c.9059G>A (p.Cys3020Tyr) c.8612G>A (p.Cys2871Tyr) c.7949G>A (p.Cys2650Tyr) c.12464G>A (p.Cys4155Tyr) | ClinVar dbSNP gnomAD v4 |
5 | g.13691998A>C | CA359188508 | DNAH5 | n.1194T>G c.13861T>G (p.Cys4621Gly) c.13816T>G (p.Cys4606Gly) c.13969T>G (p.Cys4657Gly) c.13549T>G (p.Cys4517Gly) c.12874T>G (p.Cys4292Gly) c.9058T>G (p.Cys3020Gly) c.8611T>G (p.Cys2871Gly) c.7948T>G (p.Cys2650Gly) c.12463T>G (p.Cys4155Gly) | |
5 | g.13691998A>G | CA359188509 | DNAH5 | n.1194T>C c.13861T>C (p.Cys4621Arg) c.13816T>C (p.Cys4606Arg) c.13969T>C (p.Cys4657Arg) c.13549T>C (p.Cys4517Arg) c.12874T>C (p.Cys4292Arg) c.9058T>C (p.Cys3020Arg) c.8611T>C (p.Cys2871Arg) c.7948T>C (p.Cys2650Arg) c.12463T>C (p.Cys4155Arg) | |
5 | g.13691998A>T | CA359188510 | DNAH5 | n.1194T>A c.13861T>A (p.Cys4621Ser) c.13816T>A (p.Cys4606Ser) c.13969T>A (p.Cys4657Ser) c.13549T>A (p.Cys4517Ser) c.12874T>A (p.Cys4292Ser) c.9058T>A (p.Cys3020Ser) c.8611T>A (p.Cys2871Ser) c.7948T>A (p.Cys2650Ser) c.12463T>A (p.Cys4155Ser) | |
5 | g.13691999C>A | CA443248599 | DNAH5 | n.1193G>T c.13860G>T (p.Leu4620=) c.13815G>T (p.Leu4605=) c.13968G>T (p.Leu4656=) c.13548G>T (p.Leu4516=) c.12873G>T (p.Leu4291=) c.9057G>T (p.Leu3019=) c.8610G>T (p.Leu2870=) c.7947G>T (p.Leu2649=) c.12462G>T (p.Leu4154=) | |
5 | g.13691999C>G | CA443248600 | DNAH5 | n.1193G>C c.13860G>C (p.Leu4620=) c.13815G>C (p.Leu4605=) c.13968G>C (p.Leu4656=) c.13548G>C (p.Leu4516=) c.12873G>C (p.Leu4291=) c.9057G>C (p.Leu3019=) c.8610G>C (p.Leu2870=) c.7947G>C (p.Leu2649=) c.12462G>C (p.Leu4154=) | |
5 | g.13691999C>T | CA443248602 | DNAH5 | n.1193G>A c.13860G>A (p.Leu4620=) c.13815G>A (p.Leu4605=) c.13968G>A (p.Leu4656=) c.13548G>A (p.Leu4516=) c.12873G>A (p.Leu4291=) c.9057G>A (p.Leu3019=) c.8610G>A (p.Leu2870=) c.7947G>A (p.Leu2649=) c.12462G>A (p.Leu4154=) | |
5 | g.13692000A>C | CA359188511 | DNAH5 | n.1192T>G c.13859T>G (p.Leu4620Arg) c.13814T>G (p.Leu4605Arg) c.13967T>G (p.Leu4656Arg) c.13547T>G (p.Leu4516Arg) c.12872T>G (p.Leu4291Arg) c.9056T>G (p.Leu3019Arg) c.8609T>G (p.Leu2870Arg) c.7946T>G (p.Leu2649Arg) c.12461T>G (p.Leu4154Arg) | |
5 | g.13692000A>G | CA359188512 | DNAH5 | n.1192T>C c.13859T>C (p.Leu4620Pro) c.13814T>C (p.Leu4605Pro) c.13967T>C (p.Leu4656Pro) c.13547T>C (p.Leu4516Pro) c.12872T>C (p.Leu4291Pro) c.9056T>C (p.Leu3019Pro) c.8609T>C (p.Leu2870Pro) c.7946T>C (p.Leu2649Pro) c.12461T>C (p.Leu4154Pro) | |
5 | g.13692000A>T | CA359188513 | DNAH5 | n.1192T>A c.13859T>A (p.Leu4620Gln) c.13814T>A (p.Leu4605Gln) c.13967T>A (p.Leu4656Gln) c.13547T>A (p.Leu4516Gln) c.12872T>A (p.Leu4291Gln) c.9056T>A (p.Leu3019Gln) c.8609T>A (p.Leu2870Gln) c.7946T>A (p.Leu2649Gln) c.12461T>A (p.Leu4154Gln) | |
5 | g.13692001G>A | CA443248604 | DNAH5 | n.1191C>T c.13858C>T (p.Leu4620=) c.13813C>T (p.Leu4605=) c.13966C>T (p.Leu4656=) c.13546C>T (p.Leu4516=) c.12871C>T (p.Leu4291=) c.9055C>T (p.Leu3019=) c.8608C>T (p.Leu2870=) c.7945C>T (p.Leu2649=) c.12460C>T (p.Leu4154=) | |
5 | g.13692001G>C | CA359188514 | DNAH5 | n.1191C>G c.13858C>G (p.Leu4620Val) c.13813C>G (p.Leu4605Val) c.13966C>G (p.Leu4656Val) c.13546C>G (p.Leu4516Val) c.12871C>G (p.Leu4291Val) c.9055C>G (p.Leu3019Val) c.8608C>G (p.Leu2870Val) c.7945C>G (p.Leu2649Val) c.12460C>G (p.Leu4154Val) | |
5 | g.13692001G>T | CA359188515 | DNAH5 | n.1191C>A c.13858C>A (p.Leu4620Met) c.13813C>A (p.Leu4605Met) c.13966C>A (p.Leu4656Met) c.13546C>A (p.Leu4516Met) c.12871C>A (p.Leu4291Met) c.9055C>A (p.Leu3019Met) c.8608C>A (p.Leu2870Met) c.7945C>A (p.Leu2649Met) c.12460C>A (p.Leu4154Met) | |
5 | g.13692002A>C | CA443248605 | DNAH5 | n.1190T>G c.13857T>G (p.Leu4619=) c.13812T>G (p.Leu4604=) c.13965T>G (p.Leu4655=) c.13545T>G (p.Leu4515=) c.12870T>G (p.Leu4290=) c.9054T>G (p.Leu3018=) c.8607T>G (p.Leu2869=) c.7944T>G (p.Leu2648=) c.12459T>G (p.Leu4153=) | |
5 | g.13692002A>G | CA443248607 | DNAH5 | n.1190T>C c.13857T>C (p.Leu4619=) c.13812T>C (p.Leu4604=) c.13965T>C (p.Leu4655=) c.13545T>C (p.Leu4515=) c.12870T>C (p.Leu4290=) c.9054T>C (p.Leu3018=) c.8607T>C (p.Leu2869=) c.7944T>C (p.Leu2648=) c.12459T>C (p.Leu4153=) | |
5 | g.13692002A>T | CA443248608 | DNAH5 | n.1190T>A c.13857T>A (p.Leu4619=) c.13812T>A (p.Leu4604=) c.13965T>A (p.Leu4655=) c.13545T>A (p.Leu4515=) c.12870T>A (p.Leu4290=) c.9054T>A (p.Leu3018=) c.8607T>A (p.Leu2869=) c.7944T>A (p.Leu2648=) c.12459T>A (p.Leu4153=) | |
5 | g.13692003A>C | CA359188516 | DNAH5 | n.1189T>G c.13856T>G (p.Leu4619Arg) c.13811T>G (p.Leu4604Arg) c.13964T>G (p.Leu4655Arg) c.13544T>G (p.Leu4515Arg) c.12869T>G (p.Leu4290Arg) c.9053T>G (p.Leu3018Arg) c.8606T>G (p.Leu2869Arg) c.7943T>G (p.Leu2648Arg) c.12458T>G (p.Leu4153Arg) | |
5 | g.13692003A>G | CA359188517 | DNAH5 | n.1189T>C c.13856T>C (p.Leu4619Pro) c.13811T>C (p.Leu4604Pro) c.13964T>C (p.Leu4655Pro) c.13544T>C (p.Leu4515Pro) c.12869T>C (p.Leu4290Pro) c.9053T>C (p.Leu3018Pro) c.8606T>C (p.Leu2869Pro) c.7943T>C (p.Leu2648Pro) c.12458T>C (p.Leu4153Pro) | |
5 | g.13692003A>T | CA359188518 | DNAH5 | n.1189T>A c.13856T>A (p.Leu4619His) c.13811T>A (p.Leu4604His) c.13964T>A (p.Leu4655His) c.13544T>A (p.Leu4515His) c.12869T>A (p.Leu4290His) c.9053T>A (p.Leu3018His) c.8606T>A (p.Leu2869His) c.7943T>A (p.Leu2648His) c.12458T>A (p.Leu4153His) | |
5 | g.13692004G>A | CA359188520 | DNAH5 | n.1188C>T c.13855C>T (p.Leu4619Phe) c.13810C>T (p.Leu4604Phe) c.13963C>T (p.Leu4655Phe) c.13543C>T (p.Leu4515Phe) c.12868C>T (p.Leu4290Phe) c.9052C>T (p.Leu3018Phe) c.8605C>T (p.Leu2869Phe) c.7942C>T (p.Leu2648Phe) c.12457C>T (p.Leu4153Phe) | gnomAD v4 |
5 | g.13692004G>C | CA359188521 | DNAH5 | n.1188C>G c.13855C>G (p.Leu4619Val) c.13810C>G (p.Leu4604Val) c.13963C>G (p.Leu4655Val) c.13543C>G (p.Leu4515Val) c.12868C>G (p.Leu4290Val) c.9052C>G (p.Leu3018Val) c.8605C>G (p.Leu2869Val) c.7942C>G (p.Leu2648Val) c.12457C>G (p.Leu4153Val) | |
5 | g.13692004G>T | CA359188519 | DNAH5 | n.1188C>A c.13855C>A (p.Leu4619Ile) c.13810C>A (p.Leu4604Ile) c.13963C>A (p.Leu4655Ile) c.13543C>A (p.Leu4515Ile) c.12868C>A (p.Leu4290Ile) c.9052C>A (p.Leu3018Ile) c.8605C>A (p.Leu2869Ile) c.7942C>A (p.Leu2648Ile) c.12457C>A (p.Leu4153Ile) | gnomAD v4 COSMIC |
5 | g.13692005G>A | CA443248611 | DNAH5 | n.1187C>T c.13854C>T (p.Ala4618=) c.13809C>T (p.Ala4603=) c.13962C>T (p.Ala4654=) c.13542C>T (p.Ala4514=) c.12867C>T (p.Ala4289=) c.9051C>T (p.Ala3017=) c.8604C>T (p.Ala2868=) c.7941C>T (p.Ala2647=) c.12456C>T (p.Ala4152=) | |
5 | g.13692005G>C | CA443248612 | DNAH5 | n.1187C>G c.13854C>G (p.Ala4618=) c.13809C>G (p.Ala4603=) c.13962C>G (p.Ala4654=) c.13542C>G (p.Ala4514=) c.12867C>G (p.Ala4289=) c.9051C>G (p.Ala3017=) c.8604C>G (p.Ala2868=) c.7941C>G (p.Ala2647=) c.12456C>G (p.Ala4152=) | |
5 | g.13692005G>T | CA443248609 | DNAH5 | n.1187C>A c.13854C>A (p.Ala4618=) c.13809C>A (p.Ala4603=) c.13962C>A (p.Ala4654=) c.13542C>A (p.Ala4514=) c.12867C>A (p.Ala4289=) c.9051C>A (p.Ala3017=) c.8604C>A (p.Ala2868=) c.7941C>A (p.Ala2647=) c.12456C>A (p.Ala4152=) | |
5 | g.13692006G>A | CA113905440 | DNAH5 | n.1186C>T c.13853C>T (p.Ala4618Val) c.13808C>T (p.Ala4603Val) c.13961C>T (p.Ala4654Val) c.13541C>T (p.Ala4514Val) c.12866C>T (p.Ala4289Val) c.9050C>T (p.Ala3017Val) c.8603C>T (p.Ala2868Val) c.7940C>T (p.Ala2647Val) c.12455C>T (p.Ala4152Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13692006G>C | CA359188522 | DNAH5 | n.1186C>G c.13853C>G (p.Ala4618Gly) c.13808C>G (p.Ala4603Gly) c.13961C>G (p.Ala4654Gly) c.13541C>G (p.Ala4514Gly) c.12866C>G (p.Ala4289Gly) c.9050C>G (p.Ala3017Gly) c.8603C>G (p.Ala2868Gly) c.7940C>G (p.Ala2647Gly) c.12455C>G (p.Ala4152Gly) | |
5 | g.13692006G= | CA1528395840 | DNAH5 | n.1186C= c.13853C= (p.Ala4618=) c.13808C= (p.Ala4603=) c.13961C= (p.Ala4654=) c.13541C= (p.Ala4514=) c.12866C= (p.Ala4289=) c.9050C= (p.Ala3017=) c.8603C= (p.Ala2868=) c.7940C= (p.Ala2647=) c.12455C= (p.Ala4152=) | |
5 | g.13692006G>T | CA359188523 | DNAH5 | n.1186C>A c.13853C>A (p.Ala4618Asp) c.13808C>A (p.Ala4603Asp) c.13961C>A (p.Ala4654Asp) c.13541C>A (p.Ala4514Asp) c.12866C>A (p.Ala4289Asp) c.9050C>A (p.Ala3017Asp) c.8603C>A (p.Ala2868Asp) c.7940C>A (p.Ala2647Asp) c.12455C>A (p.Ala4152Asp) | |
5 | g.13692007C>A | CA359188524 | DNAH5 | n.1185G>T c.13852G>T (p.Ala4618Ser) c.13807G>T (p.Ala4603Ser) c.13960G>T (p.Ala4654Ser) c.13540G>T (p.Ala4514Ser) c.12865G>T (p.Ala4289Ser) c.9049G>T (p.Ala3017Ser) c.8602G>T (p.Ala2868Ser) c.7939G>T (p.Ala2647Ser) c.12454G>T (p.Ala4152Ser) | gnomAD v4 COSMIC |
5 | g.13692007C>G | CA359188525 | DNAH5 | n.1185G>C c.13852G>C (p.Ala4618Pro) c.13807G>C (p.Ala4603Pro) c.13960G>C (p.Ala4654Pro) c.13540G>C (p.Ala4514Pro) c.12865G>C (p.Ala4289Pro) c.9049G>C (p.Ala3017Pro) c.8602G>C (p.Ala2868Pro) c.7939G>C (p.Ala2647Pro) c.12454G>C (p.Ala4152Pro) | |
5 | g.13692007C>T | CA359188526 | DNAH5 | n.1185G>A c.13852G>A (p.Ala4618Thr) c.13807G>A (p.Ala4603Thr) c.13960G>A (p.Ala4654Thr) c.13540G>A (p.Ala4514Thr) c.12865G>A (p.Ala4289Thr) c.9049G>A (p.Ala3017Thr) c.8602G>A (p.Ala2868Thr) c.7939G>A (p.Ala2647Thr) c.12454G>A (p.Ala4152Thr) | |
5 | g.13692008A>C | CA443248616 | DNAH5 | n.1184T>G c.13851T>G (p.Val4617=) c.13806T>G (p.Val4602=) c.13959T>G (p.Val4653=) c.13539T>G (p.Val4513=) c.12864T>G (p.Val4288=) c.9048T>G (p.Val3016=) c.8601T>G (p.Val2867=) c.7938T>G (p.Val2646=) c.12453T>G (p.Val4151=) | |
5 | g.13692008A>G | CA443248613 | DNAH5 | n.1184T>C c.13851T>C (p.Val4617=) c.13806T>C (p.Val4602=) c.13959T>C (p.Val4653=) c.13539T>C (p.Val4513=) c.12864T>C (p.Val4288=) c.9048T>C (p.Val3016=) c.8601T>C (p.Val2867=) c.7938T>C (p.Val2646=) c.12453T>C (p.Val4151=) | |
5 | g.13692008A>T | CA443248614 | DNAH5 | n.1184T>A c.13851T>A (p.Val4617=) c.13806T>A (p.Val4602=) c.13959T>A (p.Val4653=) c.13539T>A (p.Val4513=) c.12864T>A (p.Val4288=) c.9048T>A (p.Val3016=) c.8601T>A (p.Val2867=) c.7938T>A (p.Val2646=) c.12453T>A (p.Val4151=) | |
5 | g.13692009A= | CA1528395841 | DNAH5 | n.1183T= c.13850T= (p.Val4617=) c.13805T= (p.Val4602=) c.13958T= (p.Val4653=) c.13538T= (p.Val4513=) c.12863T= (p.Val4288=) c.9047T= (p.Val3016=) c.8600T= (p.Val2867=) c.7937T= (p.Val2646=) c.12452T= (p.Val4151=) | |
5 | g.13692009A>C | CA359188527 | DNAH5 | n.1183T>G c.13850T>G (p.Val4617Gly) c.13805T>G (p.Val4602Gly) c.13958T>G (p.Val4653Gly) c.13538T>G (p.Val4513Gly) c.12863T>G (p.Val4288Gly) c.9047T>G (p.Val3016Gly) c.8600T>G (p.Val2867Gly) c.7937T>G (p.Val2646Gly) c.12452T>G (p.Val4151Gly) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13692009A>G | CA359188528 | DNAH5 | n.1183T>C c.13850T>C (p.Val4617Ala) c.13805T>C (p.Val4602Ala) c.13958T>C (p.Val4653Ala) c.13538T>C (p.Val4513Ala) c.12863T>C (p.Val4288Ala) c.9047T>C (p.Val3016Ala) c.8600T>C (p.Val2867Ala) c.7937T>C (p.Val2646Ala) c.12452T>C (p.Val4151Ala) | |
5 | g.13692009A>T | CA113905443 | DNAH5 | n.1183T>A c.13850T>A (p.Val4617Asp) c.13805T>A (p.Val4602Asp) c.13958T>A (p.Val4653Asp) c.13538T>A (p.Val4513Asp) c.12863T>A (p.Val4288Asp) c.9047T>A (p.Val3016Asp) c.8600T>A (p.Val2867Asp) c.7937T>A (p.Val2646Asp) c.12452T>A (p.Val4151Asp) | dbSNP |
5 | g.13692010C>A | CA359188529 | DNAH5 | n.1182G>T c.13849G>T (p.Val4617Phe) c.13804G>T (p.Val4602Phe) c.13957G>T (p.Val4653Phe) c.13537G>T (p.Val4513Phe) c.12862G>T (p.Val4288Phe) c.9046G>T (p.Val3016Phe) c.8599G>T (p.Val2867Phe) c.7936G>T (p.Val2646Phe) c.12451G>T (p.Val4151Phe) | ClinVar gnomAD v4 |
5 | g.13692010C= | CA1528395842 | DNAH5 | n.1182G= c.13849G= (p.Val4617=) c.13804G= (p.Val4602=) c.13957G= (p.Val4653=) c.13537G= (p.Val4513=) c.12862G= (p.Val4288=) c.9046G= (p.Val3016=) c.8599G= (p.Val2867=) c.7936G= (p.Val2646=) c.12451G= (p.Val4151=) | |
5 | g.13692010C>G | CA359188530 | DNAH5 | n.1182G>C c.13849G>C (p.Val4617Leu) c.13804G>C (p.Val4602Leu) c.13957G>C (p.Val4653Leu) c.13537G>C (p.Val4513Leu) c.12862G>C (p.Val4288Leu) c.9046G>C (p.Val3016Leu) c.8599G>C (p.Val2867Leu) c.7936G>C (p.Val2646Leu) c.12451G>C (p.Val4151Leu) | |
5 | g.13692010C>T | CA113905445 | DNAH5 | n.1182G>A c.13849G>A (p.Val4617Ile) c.13804G>A (p.Val4602Ile) c.13957G>A (p.Val4653Ile) c.13537G>A (p.Val4513Ile) c.12862G>A (p.Val4288Ile) c.9046G>A (p.Val3016Ile) c.8599G>A (p.Val2867Ile) c.7936G>A (p.Val2646Ile) c.12451G>A (p.Val4151Ile) | dbSNP COSMIC |
5 | g.13692013del | CA2673266100 | DNAH5 | n.1182del c.13849del (p.Val4617LeufsTer28) c.13804del (p.Val4602LeufsTer28) c.13957del (p.Val4653LeufsTer28) c.13537del (p.Val4513LeufsTer28) c.12862del (p.Val4288LeufsTer28) c.9046del (p.Val3016LeufsTer28) c.8599del (p.Val2867LeufsTer28) c.7936del (p.Val2646LeufsTer28) c.12451del (p.Val4151LeufsTer28) | gnomAD v4 |
5 | g.13692011C>A | CA3201229 | DNAH5 | n.1181G>T c.13848G>T (p.Gly4616=) c.13803G>T (p.Gly4601=) c.13956G>T (p.Gly4652=) c.13536G>T (p.Gly4512=) c.12861G>T (p.Gly4287=) c.9045G>T (p.Gly3015=) c.8598G>T (p.Gly2866=) c.7935G>T (p.Gly2645=) c.12450G>T (p.Gly4150=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13692011C= | CA1528395843 | DNAH5 | n.1181G= c.13848G= (p.Gly4616=) c.13803G= (p.Gly4601=) c.13956G= (p.Gly4652=) c.13536G= (p.Gly4512=) c.12861G= (p.Gly4287=) c.9045G= (p.Gly3015=) c.8598G= (p.Gly2866=) c.7935G= (p.Gly2645=) c.12450G= (p.Gly4150=) | |
5 | g.13692011C>G | CA443248620 | DNAH5 | n.1181G>C c.13848G>C (p.Gly4616=) c.13803G>C (p.Gly4601=) c.13956G>C (p.Gly4652=) c.13536G>C (p.Gly4512=) c.12861G>C (p.Gly4287=) c.9045G>C (p.Gly3015=) c.8598G>C (p.Gly2866=) c.7935G>C (p.Gly2645=) c.12450G>C (p.Gly4150=) | |
5 | g.13692011C>T | CA443248619 | DNAH5 | n.1181G>A c.13848G>A (p.Gly4616=) c.13803G>A (p.Gly4601=) c.13956G>A (p.Gly4652=) c.13536G>A (p.Gly4512=) c.12861G>A (p.Gly4287=) c.9045G>A (p.Gly3015=) c.8598G>A (p.Gly2866=) c.7935G>A (p.Gly2645=) c.12450G>A (p.Gly4150=) | |
5 | g.13692012C>A | CA359188533 | DNAH5 | n.1180G>T c.13847G>T (p.Gly4616Val) c.13802G>T (p.Gly4601Val) c.13955G>T (p.Gly4652Val) c.13535G>T (p.Gly4512Val) c.12860G>T (p.Gly4287Val) c.9044G>T (p.Gly3015Val) c.8597G>T (p.Gly2866Val) c.7934G>T (p.Gly2645Val) c.12449G>T (p.Gly4150Val) | |
5 | g.13692012C>G | CA359188532 | DNAH5 | n.1180G>C c.13847G>C (p.Gly4616Ala) c.13802G>C (p.Gly4601Ala) c.13955G>C (p.Gly4652Ala) c.13535G>C (p.Gly4512Ala) c.12860G>C (p.Gly4287Ala) c.9044G>C (p.Gly3015Ala) c.8597G>C (p.Gly2866Ala) c.7934G>C (p.Gly2645Ala) c.12449G>C (p.Gly4150Ala) | |
5 | g.13692012C>T | CA359188531 | DNAH5 | n.1180G>A c.13847G>A (p.Gly4616Glu) c.13802G>A (p.Gly4601Glu) c.13955G>A (p.Gly4652Glu) c.13535G>A (p.Gly4512Glu) c.12860G>A (p.Gly4287Glu) c.9044G>A (p.Gly3015Glu) c.8597G>A (p.Gly2866Glu) c.7934G>A (p.Gly2645Glu) c.12449G>A (p.Gly4150Glu) | |
5 | g.13692013C>A | CA359188534 | DNAH5 | n.1179G>T c.13846G>T (p.Gly4616Trp) c.13801G>T (p.Gly4601Trp) c.13954G>T (p.Gly4652Trp) c.13534G>T (p.Gly4512Trp) c.12859G>T (p.Gly4287Trp) c.9043G>T (p.Gly3015Trp) c.8596G>T (p.Gly2866Trp) c.7933G>T (p.Gly2645Trp) c.12448G>T (p.Gly4150Trp) | |
5 | g.13692013C>G | CA359188535 | DNAH5 | n.1179G>C c.13846G>C (p.Gly4616Arg) c.13801G>C (p.Gly4601Arg) c.13954G>C (p.Gly4652Arg) c.13534G>C (p.Gly4512Arg) c.12859G>C (p.Gly4287Arg) c.9043G>C (p.Gly3015Arg) c.8596G>C (p.Gly2866Arg) c.7933G>C (p.Gly2645Arg) c.12448G>C (p.Gly4150Arg) | |
5 | g.13692013C>T | CA359188536 | DNAH5 | n.1179G>A c.13846G>A (p.Gly4616Arg) c.13801G>A (p.Gly4601Arg) c.13954G>A (p.Gly4652Arg) c.13534G>A (p.Gly4512Arg) c.12859G>A (p.Gly4287Arg) c.9043G>A (p.Gly3015Arg) c.8596G>A (p.Gly2866Arg) c.7933G>A (p.Gly2645Arg) c.12448G>A (p.Gly4150Arg) | COSMIC |
5 | g.13692014A>C | CA443248621 | DNAH5 | n.1178T>G c.13845T>G (p.Arg4615=) c.13800T>G (p.Arg4600=) c.13953T>G (p.Arg4651=) c.13533T>G (p.Arg4511=) c.12858T>G (p.Arg4286=) c.9042T>G (p.Arg3014=) c.8595T>G (p.Arg2865=) c.7932T>G (p.Arg2644=) c.12447T>G (p.Arg4149=) | |
5 | g.13692014A>G | CA443248622 | DNAH5 | n.1178T>C c.13845T>C (p.Arg4615=) c.13800T>C (p.Arg4600=) c.13953T>C (p.Arg4651=) c.13533T>C (p.Arg4511=) c.12858T>C (p.Arg4286=) c.9042T>C (p.Arg3014=) c.8595T>C (p.Arg2865=) c.7932T>C (p.Arg2644=) c.12447T>C (p.Arg4149=) | |
5 | g.13692014A>T | CA443248623 | DNAH5 | n.1178T>A c.13845T>A (p.Arg4615=) c.13800T>A (p.Arg4600=) c.13953T>A (p.Arg4651=) c.13533T>A (p.Arg4511=) c.12858T>A (p.Arg4286=) c.9042T>A (p.Arg3014=) c.8595T>A (p.Arg2865=) c.7932T>A (p.Arg2644=) c.12447T>A (p.Arg4149=) | |
5 | g.13692015C>A | CA359188537 | DNAH5 | n.1177G>T c.13844G>T (p.Arg4615Leu) c.13799G>T (p.Arg4600Leu) c.13952G>T (p.Arg4651Leu) c.13532G>T (p.Arg4511Leu) c.12857G>T (p.Arg4286Leu) c.9041G>T (p.Arg3014Leu) c.8594G>T (p.Arg2865Leu) c.7931G>T (p.Arg2644Leu) c.12446G>T (p.Arg4149Leu) | |
5 | g.13692015C= | CA1528395844 | DNAH5 | n.1177G= c.13844G= (p.Arg4615=) c.13799G= (p.Arg4600=) c.13952G= (p.Arg4651=) c.13532G= (p.Arg4511=) c.12857G= (p.Arg4286=) c.9041G= (p.Arg3014=) c.8594G= (p.Arg2865=) c.7931G= (p.Arg2644=) c.12446G= (p.Arg4149=) | |
5 | g.13692015C>G | CA359188538 | DNAH5 | n.1177G>C c.13844G>C (p.Arg4615Pro) c.13799G>C (p.Arg4600Pro) c.13952G>C (p.Arg4651Pro) c.13532G>C (p.Arg4511Pro) c.12857G>C (p.Arg4286Pro) c.9041G>C (p.Arg3014Pro) c.8594G>C (p.Arg2865Pro) c.7931G>C (p.Arg2644Pro) c.12446G>C (p.Arg4149Pro) | ClinVar |
5 | g.13692015C>T | CA359188539 | DNAH5 | n.1177G>A c.13844G>A (p.Arg4615His) c.13799G>A (p.Arg4600His) c.13952G>A (p.Arg4651His) c.13532G>A (p.Arg4511His) c.12857G>A (p.Arg4286His) c.9041G>A (p.Arg3014His) c.8594G>A (p.Arg2865His) c.7931G>A (p.Arg2644His) c.12446G>A (p.Arg4149His) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
5 | g.13692016G>A | CA3201230 | DNAH5 | n.1176C>T c.13843C>T (p.Arg4615Cys) c.13798C>T (p.Arg4600Cys) c.13951C>T (p.Arg4651Cys) c.13531C>T (p.Arg4511Cys) c.12856C>T (p.Arg4286Cys) c.9040C>T (p.Arg3014Cys) c.8593C>T (p.Arg2865Cys) c.7930C>T (p.Arg2644Cys) c.12445C>T (p.Arg4149Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13692016G>C | CA359188540 | DNAH5 | n.1176C>G c.13843C>G (p.Arg4615Gly) c.13798C>G (p.Arg4600Gly) c.13951C>G (p.Arg4651Gly) c.13531C>G (p.Arg4511Gly) c.12856C>G (p.Arg4286Gly) c.9040C>G (p.Arg3014Gly) c.8593C>G (p.Arg2865Gly) c.7930C>G (p.Arg2644Gly) c.12445C>G (p.Arg4149Gly) | |
5 | g.13692016G= | CA1528395845 | DNAH5 | n.1176C= c.13843C= (p.Arg4615=) c.13798C= (p.Arg4600=) c.13951C= (p.Arg4651=) c.13531C= (p.Arg4511=) c.12856C= (p.Arg4286=) c.9040C= (p.Arg3014=) c.8593C= (p.Arg2865=) c.7930C= (p.Arg2644=) c.12445C= (p.Arg4149=) | |
5 | g.13692016G>T | CA359188541 | DNAH5 | n.1176C>A c.13843C>A (p.Arg4615Ser) c.13798C>A (p.Arg4600Ser) c.13951C>A (p.Arg4651Ser) c.13531C>A (p.Arg4511Ser) c.12856C>A (p.Arg4286Ser) c.9040C>A (p.Arg3014Ser) c.8593C>A (p.Arg2865Ser) c.7930C>A (p.Arg2644Ser) c.12445C>A (p.Arg4149Ser) | |
5 | g.13692017G>A | CA443248625 | DNAH5 | n.1175C>T c.13842C>T (p.Leu4614=) c.13797C>T (p.Leu4599=) c.13950C>T (p.Leu4650=) c.13530C>T (p.Leu4510=) c.12855C>T (p.Leu4285=) c.9039C>T (p.Leu3013=) c.8592C>T (p.Leu2864=) c.7929C>T (p.Leu2643=) c.12444C>T (p.Leu4148=) | |
5 | g.13692017G>C | CA443248627 | DNAH5 | n.1175C>G c.13842C>G (p.Leu4614=) c.13797C>G (p.Leu4599=) c.13950C>G (p.Leu4650=) c.13530C>G (p.Leu4510=) c.12855C>G (p.Leu4285=) c.9039C>G (p.Leu3013=) c.8592C>G (p.Leu2864=) c.7929C>G (p.Leu2643=) c.12444C>G (p.Leu4148=) | |
5 | g.13692017G>T | CA443248629 | DNAH5 | n.1175C>A c.13842C>A (p.Leu4614=) c.13797C>A (p.Leu4599=) c.13950C>A (p.Leu4650=) c.13530C>A (p.Leu4510=) c.12855C>A (p.Leu4285=) c.9039C>A (p.Leu3013=) c.8592C>A (p.Leu2864=) c.7929C>A (p.Leu2643=) c.12444C>A (p.Leu4148=) | |
5 | g.13692018A>C | CA359188542 | DNAH5 | n.1174T>G c.13841T>G (p.Leu4614Arg) c.13796T>G (p.Leu4599Arg) c.13949T>G (p.Leu4650Arg) c.13529T>G (p.Leu4510Arg) c.12854T>G (p.Leu4285Arg) c.9038T>G (p.Leu3013Arg) c.8591T>G (p.Leu2864Arg) c.7928T>G (p.Leu2643Arg) c.12443T>G (p.Leu4148Arg) | |
5 | g.13692018A>G | CA359188543 | DNAH5 | n.1174T>C c.13841T>C (p.Leu4614Pro) c.13796T>C (p.Leu4599Pro) c.13949T>C (p.Leu4650Pro) c.13529T>C (p.Leu4510Pro) c.12854T>C (p.Leu4285Pro) c.9038T>C (p.Leu3013Pro) c.8591T>C (p.Leu2864Pro) c.7928T>C (p.Leu2643Pro) c.12443T>C (p.Leu4148Pro) | |
5 | g.13692018A>T | CA359188544 | DNAH5 | n.1174T>A c.13841T>A (p.Leu4614His) c.13796T>A (p.Leu4599His) c.13949T>A (p.Leu4650His) c.13529T>A (p.Leu4510His) c.12854T>A (p.Leu4285His) c.9038T>A (p.Leu3013His) c.8591T>A (p.Leu2864His) c.7928T>A (p.Leu2643His) c.12443T>A (p.Leu4148His) | |
5 | g.13692019G>A | CA359188547 | DNAH5 | n.1173C>T c.13840C>T (p.Leu4614Phe) c.13795C>T (p.Leu4599Phe) c.13948C>T (p.Leu4650Phe) c.13528C>T (p.Leu4510Phe) c.12853C>T (p.Leu4285Phe) c.9037C>T (p.Leu3013Phe) c.8590C>T (p.Leu2864Phe) c.7927C>T (p.Leu2643Phe) c.12442C>T (p.Leu4148Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
5 | g.13692019G>C | CA359188546 | DNAH5 | n.1173C>G c.13840C>G (p.Leu4614Val) c.13795C>G (p.Leu4599Val) c.13948C>G (p.Leu4650Val) c.13528C>G (p.Leu4510Val) c.12853C>G (p.Leu4285Val) c.9037C>G (p.Leu3013Val) c.8590C>G (p.Leu2864Val) c.7927C>G (p.Leu2643Val) c.12442C>G (p.Leu4148Val) | |
5 | g.13692019G= | CA1528395846 | DNAH5 | n.1173C= c.13840C= (p.Leu4614=) c.13795C= (p.Leu4599=) c.13948C= (p.Leu4650=) c.13528C= (p.Leu4510=) c.12853C= (p.Leu4285=) c.9037C= (p.Leu3013=) c.8590C= (p.Leu2864=) c.7927C= (p.Leu2643=) c.12442C= (p.Leu4148=) | |
5 | g.13692019G>T | CA359188545 | DNAH5 | n.1173C>A c.13840C>A (p.Leu4614Ile) c.13795C>A (p.Leu4599Ile) c.13948C>A (p.Leu4650Ile) c.13528C>A (p.Leu4510Ile) c.12853C>A (p.Leu4285Ile) c.9037C>A (p.Leu3013Ile) c.8590C>A (p.Leu2864Ile) c.7927C>A (p.Leu2643Ile) c.12442C>A (p.Leu4148Ile) | |
5 | g.13692020C>A | CA443248631 | DNAH5 | n.1172G>T c.13839G>T (p.Val4613=) c.13794G>T (p.Val4598=) c.13947G>T (p.Val4649=) c.13527G>T (p.Val4509=) c.12852G>T (p.Val4284=) c.9036G>T (p.Val3012=) c.8589G>T (p.Val2863=) c.7926G>T (p.Val2642=) c.12441G>T (p.Val4147=) | dbSNP |
5 | g.13692020C= | CA1528395847 | DNAH5 | n.1172G= c.13839G= (p.Val4613=) c.13794G= (p.Val4598=) c.13947G= (p.Val4649=) c.13527G= (p.Val4509=) c.12852G= (p.Val4284=) c.9036G= (p.Val3012=) c.8589G= (p.Val2863=) c.7926G= (p.Val2642=) c.12441G= (p.Val4147=) | |
5 | g.13692020C>G | CA443248632 | DNAH5 | n.1172G>C c.13839G>C (p.Val4613=) c.13794G>C (p.Val4598=) c.13947G>C (p.Val4649=) c.13527G>C (p.Val4509=) c.12852G>C (p.Val4284=) c.9036G>C (p.Val3012=) c.8589G>C (p.Val2863=) c.7926G>C (p.Val2642=) c.12441G>C (p.Val4147=) | |
5 | g.13692020C>T | CA443248634 | DNAH5 | n.1172G>A c.13839G>A (p.Val4613=) c.13794G>A (p.Val4598=) c.13947G>A (p.Val4649=) c.13527G>A (p.Val4509=) c.12852G>A (p.Val4284=) c.9036G>A (p.Val3012=) c.8589G>A (p.Val2863=) c.7926G>A (p.Val2642=) c.12441G>A (p.Val4147=) | ClinVar |
5 | g.13692021A>C | CA359188548 | DNAH5 | n.1171T>G c.13838T>G (p.Val4613Gly) c.13793T>G (p.Val4598Gly) c.13946T>G (p.Val4649Gly) c.13526T>G (p.Val4509Gly) c.12851T>G (p.Val4284Gly) c.9035T>G (p.Val3012Gly) c.8588T>G (p.Val2863Gly) c.7925T>G (p.Val2642Gly) c.12440T>G (p.Val4147Gly) | |
5 | g.13692021A>G | CA359188550 | DNAH5 | n.1171T>C c.13838T>C (p.Val4613Ala) c.13793T>C (p.Val4598Ala) c.13946T>C (p.Val4649Ala) c.13526T>C (p.Val4509Ala) c.12851T>C (p.Val4284Ala) c.9035T>C (p.Val3012Ala) c.8588T>C (p.Val2863Ala) c.7925T>C (p.Val2642Ala) c.12440T>C (p.Val4147Ala) | |
5 | g.13692021A>T | CA359188549 | DNAH5 | n.1171T>A c.13838T>A (p.Val4613Glu) c.13793T>A (p.Val4598Glu) c.13946T>A (p.Val4649Glu) c.13526T>A (p.Val4509Glu) c.12851T>A (p.Val4284Glu) c.9035T>A (p.Val3012Glu) c.8588T>A (p.Val2863Glu) c.7925T>A (p.Val2642Glu) c.12440T>A (p.Val4147Glu) | |
5 | g.13692021_13692022delinsAC | CA1528395848 | DNAH5 | n.1170_1171delinsGT c.13837_13838delinsGT (p.Val4613=) c.13792_13793delinsGT (p.Val4598=) c.13945_13946delinsGT (p.Val4649=) c.13525_13526delinsGT (p.Val4509=) c.12850_12851delinsGT (p.Val4284=) c.9034_9035delinsGT (p.Val3012=) c.8587_8588delinsGT (p.Val2863=) c.7924_7925delinsGT (p.Val2642=) c.12439_12440delinsGT (p.Val4147=) | |
5 | g.13692022C>A | CA359188551 | DNAH5 | n.1170G>T c.13837G>T (p.Val4613Leu) c.13792G>T (p.Val4598Leu) c.13945G>T (p.Val4649Leu) c.13525G>T (p.Val4509Leu) c.12850G>T (p.Val4284Leu) c.9034G>T (p.Val3012Leu) c.8587G>T (p.Val2863Leu) c.7924G>T (p.Val2642Leu) c.12439G>T (p.Val4147Leu) | gnomAD v4 |
5 | g.13692022C= | CA1528395850 | DNAH5 | n.1170G= c.13837G= (p.Val4613=) c.13792G= (p.Val4598=) c.13945G= (p.Val4649=) c.13525G= (p.Val4509=) c.12850G= (p.Val4284=) c.9034G= (p.Val3012=) c.8587G= (p.Val2863=) c.7924G= (p.Val2642=) c.12439G= (p.Val4147=) | |
5 | g.13692022C>G | CA359188552 | DNAH5 | n.1170G>C c.13837G>C (p.Val4613Leu) c.13792G>C (p.Val4598Leu) c.13945G>C (p.Val4649Leu) c.13525G>C (p.Val4509Leu) c.12850G>C (p.Val4284Leu) c.9034G>C (p.Val3012Leu) c.8587G>C (p.Val2863Leu) c.7924G>C (p.Val2642Leu) c.12439G>C (p.Val4147Leu) | |
5 | g.13692022C>T | CA3201231 | DNAH5 | n.1170G>A c.13837G>A (p.Val4613Met) c.13792G>A (p.Val4598Met) c.13945G>A (p.Val4649Met) c.13525G>A (p.Val4509Met) c.12850G>A (p.Val4284Met) c.9034G>A (p.Val3012Met) c.8587G>A (p.Val2863Met) c.7924G>A (p.Val2642Met) c.12439G>A (p.Val4147Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13692024dup | CA2673266101 | DNAH5 | n.1170dup c.13837dup (p.Val4613GlyfsTer10) c.13792dup (p.Val4598GlyfsTer10) c.13945dup (p.Val4649GlyfsTer10) c.13525dup (p.Val4509GlyfsTer10) c.12850dup (p.Val4284GlyfsTer10) c.9034dup (p.Val3012GlyfsTer10) c.8587dup (p.Val2863GlyfsTer10) c.7924dup (p.Val2642GlyfsTer10) c.12439dup (p.Val4147GlyfsTer10) | gnomAD v4 |
5 | g.13692024del | CA1528395849 | DNAH5 | n.1170del c.13837del (p.Val4613CysfsTer?) c.13792del (p.Val4598CysfsTer?) c.13945del (p.Val4649CysfsTer?) c.13525del (p.Val4509CysfsTer?) c.12850del (p.Val4284CysfsTer?) c.9034del (p.Val3012CysfsTer?) c.8587del (p.Val2863CysfsTer?) c.7924del (p.Val2642CysfsTer?) c.12439del (p.Val4147CysfsTer?) | dbSNP gnomAD v4 |
5 | g.13692023C>A | CA359188553 | DNAH5 | n.1169G>T c.13836G>T (p.Trp4612Cys) c.13791G>T (p.Trp4597Cys) c.13944G>T (p.Trp4648Cys) c.13524G>T (p.Trp4508Cys) c.12849G>T (p.Trp4283Cys) c.9033G>T (p.Trp3011Cys) c.8586G>T (p.Trp2862Cys) c.7923G>T (p.Trp2641Cys) c.12438G>T (p.Trp4146Cys) | dbSNP |
5 | g.13692023C>G | CA359188554 | DNAH5 | n.1169G>C c.13836G>C (p.Trp4612Cys) c.13791G>C (p.Trp4597Cys) c.13944G>C (p.Trp4648Cys) c.13524G>C (p.Trp4508Cys) c.12849G>C (p.Trp4283Cys) c.9033G>C (p.Trp3011Cys) c.8586G>C (p.Trp2862Cys) c.7923G>C (p.Trp2641Cys) c.12438G>C (p.Trp4146Cys) | |
5 | g.13692023C>T | CA359188555 | DNAH5 | n.1169G>A c.13836G>A (p.Trp4612Ter) c.13791G>A (p.Trp4597Ter) c.13944G>A (p.Trp4648Ter) c.13524G>A (p.Trp4508Ter) c.12849G>A (p.Trp4283Ter) c.9033G>A (p.Trp3011Ter) c.8586G>A (p.Trp2862Ter) c.7923G>A (p.Trp2641Ter) c.12438G>A (p.Trp4146Ter) | |
5 | g.13692024C>A | CA359188556 | DNAH5 | n.1168G>T c.13835G>T (p.Trp4612Leu) c.13790G>T (p.Trp4597Leu) c.13943G>T (p.Trp4648Leu) c.13523G>T (p.Trp4508Leu) c.12848G>T (p.Trp4283Leu) c.9032G>T (p.Trp3011Leu) c.8585G>T (p.Trp2862Leu) c.7922G>T (p.Trp2641Leu) c.12437G>T (p.Trp4146Leu) | |
5 | g.13692024C>G | CA359188557 | DNAH5 | n.1168G>C c.13835G>C (p.Trp4612Ser) c.13790G>C (p.Trp4597Ser) c.13943G>C (p.Trp4648Ser) c.13523G>C (p.Trp4508Ser) c.12848G>C (p.Trp4283Ser) c.9032G>C (p.Trp3011Ser) c.8585G>C (p.Trp2862Ser) c.7922G>C (p.Trp2641Ser) c.12437G>C (p.Trp4146Ser) | |
5 | g.13692024C>T | CA359188558 | DNAH5 | n.1168G>A c.13835G>A (p.Trp4612Ter) c.13790G>A (p.Trp4597Ter) c.13943G>A (p.Trp4648Ter) c.13523G>A (p.Trp4508Ter) c.12848G>A (p.Trp4283Ter) c.9032G>A (p.Trp3011Ter) c.8585G>A (p.Trp2862Ter) c.7922G>A (p.Trp2641Ter) c.12437G>A (p.Trp4146Ter) | gnomAD v4 |
5 | g.13692025A>C | CA359188559 | DNAH5 | n.1167T>G c.13834T>G (p.Trp4612Gly) c.13789T>G (p.Trp4597Gly) c.13942T>G (p.Trp4648Gly) c.13522T>G (p.Trp4508Gly) c.12847T>G (p.Trp4283Gly) c.9031T>G (p.Trp3011Gly) c.8584T>G (p.Trp2862Gly) c.7921T>G (p.Trp2641Gly) c.12436T>G (p.Trp4146Gly) | |
5 | g.13692025A>G | CA359188560 | DNAH5 | n.1167T>C c.13834T>C (p.Trp4612Arg) c.13789T>C (p.Trp4597Arg) c.13942T>C (p.Trp4648Arg) c.13522T>C (p.Trp4508Arg) c.12847T>C (p.Trp4283Arg) c.9031T>C (p.Trp3011Arg) c.8584T>C (p.Trp2862Arg) c.7921T>C (p.Trp2641Arg) c.12436T>C (p.Trp4146Arg) | |
5 | g.13692025A>T | CA359188561 | DNAH5 | n.1167T>A c.13834T>A (p.Trp4612Arg) c.13789T>A (p.Trp4597Arg) c.13942T>A (p.Trp4648Arg) c.13522T>A (p.Trp4508Arg) c.12847T>A (p.Trp4283Arg) c.9031T>A (p.Trp3011Arg) c.8584T>A (p.Trp2862Arg) c.7921T>A (p.Trp2641Arg) c.12436T>A (p.Trp4146Arg) | |
5 | g.13692026G>A | CA443248639 | DNAH5 | n.1166C>T c.13833C>T (p.His4611=) c.13788C>T (p.His4596=) c.13941C>T (p.His4647=) c.13521C>T (p.His4507=) c.12846C>T (p.His4282=) c.9030C>T (p.His3010=) c.8583C>T (p.His2861=) c.7920C>T (p.His2640=) c.12435C>T (p.His4145=) | gnomAD v4 |
5 | g.13692026G>C | CA359188562 | DNAH5 | n.1166C>G c.13833C>G (p.His4611Gln) c.13788C>G (p.His4596Gln) c.13941C>G (p.His4647Gln) c.13521C>G (p.His4507Gln) c.12846C>G (p.His4282Gln) c.9030C>G (p.His3010Gln) c.8583C>G (p.His2861Gln) c.7920C>G (p.His2640Gln) c.12435C>G (p.His4145Gln) | gnomAD v4 |
5 | g.13692026G>T | CA359188563 | DNAH5 | n.1166C>A c.13833C>A (p.His4611Gln) c.13788C>A (p.His4596Gln) c.13941C>A (p.His4647Gln) c.13521C>A (p.His4507Gln) c.12846C>A (p.His4282Gln) c.9030C>A (p.His3010Gln) c.8583C>A (p.His2861Gln) c.7920C>A (p.His2640Gln) c.12435C>A (p.His4145Gln) | |
5 | g.13692027T>A | CA359188566 | DNAH5 | n.1165A>T c.13832A>T (p.His4611Leu) c.13787A>T (p.His4596Leu) c.13940A>T (p.His4647Leu) c.13520A>T (p.His4507Leu) c.12845A>T (p.His4282Leu) c.9029A>T (p.His3010Leu) c.8582A>T (p.His2861Leu) c.7919A>T (p.His2640Leu) c.12434A>T (p.His4145Leu) | |
5 | g.13692027T>C | CA359188564 | DNAH5 | n.1165A>G c.13832A>G (p.His4611Arg) c.13787A>G (p.His4596Arg) c.13940A>G (p.His4647Arg) c.13520A>G (p.His4507Arg) c.12845A>G (p.His4282Arg) c.9029A>G (p.His3010Arg) c.8582A>G (p.His2861Arg) c.7919A>G (p.His2640Arg) c.12434A>G (p.His4145Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13692027T>G | CA359188565 | DNAH5 | n.1165A>C c.13832A>C (p.His4611Pro) c.13787A>C (p.His4596Pro) c.13940A>C (p.His4647Pro) c.13520A>C (p.His4507Pro) c.12845A>C (p.His4282Pro) c.9029A>C (p.His3010Pro) c.8582A>C (p.His2861Pro) c.7919A>C (p.His2640Pro) c.12434A>C (p.His4145Pro) | |
5 | g.13692027T= | CA1528395851 | DNAH5 | n.1165A= c.13832A= (p.His4611=) c.13787A= (p.His4596=) c.13940A= (p.His4647=) c.13520A= (p.His4507=) c.12845A= (p.His4282=) c.9029A= (p.His3010=) c.8582A= (p.His2861=) c.7919A= (p.His2640=) c.12434A= (p.His4145=) | |
5 | g.13692028G>A | CA359188567 | DNAH5 | n.1164C>T c.13831C>T (p.His4611Tyr) c.13786C>T (p.His4596Tyr) c.13939C>T (p.His4647Tyr) c.13519C>T (p.His4507Tyr) c.12844C>T (p.His4282Tyr) c.9028C>T (p.His3010Tyr) c.8581C>T (p.His2861Tyr) c.7918C>T (p.His2640Tyr) c.12433C>T (p.His4145Tyr) | |
5 | g.13692028G>C | CA359188568 | DNAH5 | n.1164C>G c.13831C>G (p.His4611Asp) c.13786C>G (p.His4596Asp) c.13939C>G (p.His4647Asp) c.13519C>G (p.His4507Asp) c.12844C>G (p.His4282Asp) c.9028C>G (p.His3010Asp) c.8581C>G (p.His2861Asp) c.7918C>G (p.His2640Asp) c.12433C>G (p.His4145Asp) | gnomAD v4 |
5 | g.13692028G>T | CA359188569 | DNAH5 | n.1164C>A c.13831C>A (p.His4611Asn) c.13786C>A (p.His4596Asn) c.13939C>A (p.His4647Asn) c.13519C>A (p.His4507Asn) c.12844C>A (p.His4282Asn) c.9028C>A (p.His3010Asn) c.8581C>A (p.His2861Asn) c.7918C>A (p.His2640Asn) c.12433C>A (p.His4145Asn) | |
5 | g.13692029T>A | CA359188570 | DNAH5 | n.1163A>T c.13830A>T (p.Glu4610Asp) c.13785A>T (p.Glu4595Asp) c.13938A>T (p.Glu4646Asp) c.13518A>T (p.Glu4506Asp) c.12843A>T (p.Glu4281Asp) c.9027A>T (p.Glu3009Asp) c.8580A>T (p.Glu2860Asp) c.7917A>T (p.Glu2639Asp) c.12432A>T (p.Glu4144Asp) | |
5 | g.13692029T>C | CA443248642 | DNAH5 | n.1163A>G c.13830A>G (p.Glu4610=) c.13785A>G (p.Glu4595=) c.13938A>G (p.Glu4646=) c.13518A>G (p.Glu4506=) c.12843A>G (p.Glu4281=) c.9027A>G (p.Glu3009=) c.8580A>G (p.Glu2860=) c.7917A>G (p.Glu2639=) c.12432A>G (p.Glu4144=) | gnomAD v4 |
5 | g.13692029T>G | CA359188571 | DNAH5 | n.1163A>C c.13830A>C (p.Glu4610Asp) c.13785A>C (p.Glu4595Asp) c.13938A>C (p.Glu4646Asp) c.13518A>C (p.Glu4506Asp) c.12843A>C (p.Glu4281Asp) c.9027A>C (p.Glu3009Asp) c.8580A>C (p.Glu2860Asp) c.7917A>C (p.Glu2639Asp) c.12432A>C (p.Glu4144Asp) | |
5 | g.13692030T>A | CA359188572 | DNAH5 | n.1162A>T c.13829A>T (p.Glu4610Val) c.13784A>T (p.Glu4595Val) c.13937A>T (p.Glu4646Val) c.13517A>T (p.Glu4506Val) c.12842A>T (p.Glu4281Val) c.9026A>T (p.Glu3009Val) c.8579A>T (p.Glu2860Val) c.7916A>T (p.Glu2639Val) c.12431A>T (p.Glu4144Val) | |
5 | g.13692030T>C | CA359188573 | DNAH5 | n.1162A>G c.13829A>G (p.Glu4610Gly) c.13784A>G (p.Glu4595Gly) c.13937A>G (p.Glu4646Gly) c.13517A>G (p.Glu4506Gly) c.12842A>G (p.Glu4281Gly) c.9026A>G (p.Glu3009Gly) c.8579A>G (p.Glu2860Gly) c.7916A>G (p.Glu2639Gly) c.12431A>G (p.Glu4144Gly) | |
5 | g.13692030T>G | CA359188574 | DNAH5 | n.1162A>C c.13829A>C (p.Glu4610Ala) c.13784A>C (p.Glu4595Ala) c.13937A>C (p.Glu4646Ala) c.13517A>C (p.Glu4506Ala) c.12842A>C (p.Glu4281Ala) c.9026A>C (p.Glu3009Ala) c.8579A>C (p.Glu2860Ala) c.7916A>C (p.Glu2639Ala) c.12431A>C (p.Glu4144Ala) | |
5 | g.13692031_13692039del | CA2673266102 | DNAH5 | n.1154_1162del c.13821_13829del (p.Thr4608_Glu4610del) c.13776_13784del (p.Thr4593_Glu4595del) c.13929_13937del (p.Thr4644_Glu4646del) c.13509_13517del (p.Thr4504_Glu4506del) c.12834_12842del (p.Thr4279_Glu4281del) c.9018_9026del (p.Thr3007_Glu3009del) c.8571_8579del (p.Thr2858_Glu2860del) c.7908_7916del (p.Thr2637_Glu2639del) c.12423_12431del (p.Thr4142_Glu4144del) | gnomAD v4 |
5 | g.13692031C>A | CA359188575 | DNAH5 | n.1161G>T c.13828G>T (p.Glu4610Ter) c.13783G>T (p.Glu4595Ter) c.13936G>T (p.Glu4646Ter) c.13516G>T (p.Glu4506Ter) c.12841G>T (p.Glu4281Ter) c.9025G>T (p.Glu3009Ter) c.8578G>T (p.Glu2860Ter) c.7915G>T (p.Glu2639Ter) c.12430G>T (p.Glu4144Ter) | |
5 | g.13692031C>G | CA359188576 | DNAH5 | n.1161G>C c.13828G>C (p.Glu4610Gln) c.13783G>C (p.Glu4595Gln) c.13936G>C (p.Glu4646Gln) c.13516G>C (p.Glu4506Gln) c.12841G>C (p.Glu4281Gln) c.9025G>C (p.Glu3009Gln) c.8578G>C (p.Glu2860Gln) c.7915G>C (p.Glu2639Gln) c.12430G>C (p.Glu4144Gln) | gnomAD v4 |
5 | g.13692031C>T | CA359188577 | DNAH5 | n.1161G>A c.13828G>A (p.Glu4610Lys) c.13783G>A (p.Glu4595Lys) c.13936G>A (p.Glu4646Lys) c.13516G>A (p.Glu4506Lys) c.12841G>A (p.Glu4281Lys) c.9025G>A (p.Glu3009Lys) c.8578G>A (p.Glu2860Lys) c.7915G>A (p.Glu2639Lys) c.12430G>A (p.Glu4144Lys) | |
5 | g.13692032A= | CA1528395852 | DNAH5 | n.1160T= c.13827T= (p.Pro4609=) c.13782T= (p.Pro4594=) c.13935T= (p.Pro4645=) c.13515T= (p.Pro4505=) c.12840T= (p.Pro4280=) c.9024T= (p.Pro3008=) c.8577T= (p.Pro2859=) c.7914T= (p.Pro2638=) c.12429T= (p.Pro4143=) | |
5 | g.13692032A>C | CA443248645 | DNAH5 | n.1160T>G c.13827T>G (p.Pro4609=) c.13782T>G (p.Pro4594=) c.13935T>G (p.Pro4645=) c.13515T>G (p.Pro4505=) c.12840T>G (p.Pro4280=) c.9024T>G (p.Pro3008=) c.8577T>G (p.Pro2859=) c.7914T>G (p.Pro2638=) c.12429T>G (p.Pro4143=) | |
5 | g.13692032A>G | CA3201232 | DNAH5 | n.1160T>C c.13827T>C (p.Pro4609=) c.13782T>C (p.Pro4594=) c.13935T>C (p.Pro4645=) c.13515T>C (p.Pro4505=) c.12840T>C (p.Pro4280=) c.9024T>C (p.Pro3008=) c.8577T>C (p.Pro2859=) c.7914T>C (p.Pro2638=) c.12429T>C (p.Pro4143=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13692032A>T | CA443248647 | DNAH5 | n.1160T>A c.13827T>A (p.Pro4609=) c.13782T>A (p.Pro4594=) c.13935T>A (p.Pro4645=) c.13515T>A (p.Pro4505=) c.12840T>A (p.Pro4280=) c.9024T>A (p.Pro3008=) c.8577T>A (p.Pro2859=) c.7914T>A (p.Pro2638=) c.12429T>A (p.Pro4143=) | |
5 | g.13692033G>A | CA359188580 | DNAH5 | n.1159C>T c.13826C>T (p.Pro4609Leu) c.13781C>T (p.Pro4594Leu) c.13934C>T (p.Pro4645Leu) c.13514C>T (p.Pro4505Leu) c.12839C>T (p.Pro4280Leu) c.9023C>T (p.Pro3008Leu) c.8576C>T (p.Pro2859Leu) c.7913C>T (p.Pro2638Leu) c.12428C>T (p.Pro4143Leu) | |
5 | g.13692033G>C | CA359188578 | DNAH5 | n.1159C>G c.13826C>G (p.Pro4609Arg) c.13781C>G (p.Pro4594Arg) c.13934C>G (p.Pro4645Arg) c.13514C>G (p.Pro4505Arg) c.12839C>G (p.Pro4280Arg) c.9023C>G (p.Pro3008Arg) c.8576C>G (p.Pro2859Arg) c.7913C>G (p.Pro2638Arg) c.12428C>G (p.Pro4143Arg) | |
5 | g.13692033G>T | CA359188579 | DNAH5 | n.1159C>A c.13826C>A (p.Pro4609His) c.13781C>A (p.Pro4594His) c.13934C>A (p.Pro4645His) c.13514C>A (p.Pro4505His) c.12839C>A (p.Pro4280His) c.9023C>A (p.Pro3008His) c.8576C>A (p.Pro2859His) c.7913C>A (p.Pro2638His) c.12428C>A (p.Pro4143His) | |
5 | g.13692034G>A | CA359188581 | DNAH5 | n.1158C>T c.13825C>T (p.Pro4609Ser) c.13780C>T (p.Pro4594Ser) c.13933C>T (p.Pro4645Ser) c.13513C>T (p.Pro4505Ser) c.12838C>T (p.Pro4280Ser) c.9022C>T (p.Pro3008Ser) c.8575C>T (p.Pro2859Ser) c.7912C>T (p.Pro2638Ser) c.12427C>T (p.Pro4143Ser) | |
5 | g.13692034G>C | CA359188582 | DNAH5 | n.1158C>G c.13825C>G (p.Pro4609Ala) c.13780C>G (p.Pro4594Ala) c.13933C>G (p.Pro4645Ala) c.13513C>G (p.Pro4505Ala) c.12838C>G (p.Pro4280Ala) c.9022C>G (p.Pro3008Ala) c.8575C>G (p.Pro2859Ala) c.7912C>G (p.Pro2638Ala) c.12427C>G (p.Pro4143Ala) | ClinVar |
5 | g.13692034G= | CA1528395853 | DNAH5 | n.1158C= c.13825C= (p.Pro4609=) c.13780C= (p.Pro4594=) c.13933C= (p.Pro4645=) c.13513C= (p.Pro4505=) c.12838C= (p.Pro4280=) c.9022C= (p.Pro3008=) c.8575C= (p.Pro2859=) c.7912C= (p.Pro2638=) c.12427C= (p.Pro4143=) | |
5 | g.13692034G>T | CA10622671 | DNAH5 | n.1158C>A c.13825C>A (p.Pro4609Thr) c.13780C>A (p.Pro4594Thr) c.13933C>A (p.Pro4645Thr) c.13513C>A (p.Pro4505Thr) c.12838C>A (p.Pro4280Thr) c.9022C>A (p.Pro3008Thr) c.8575C>A (p.Pro2859Thr) c.7912C>A (p.Pro2638Thr) c.12427C>A (p.Pro4143Thr) | ClinVar dbSNP |
5 | g.13692035G>A | CA443248652 | DNAH5 | n.1157C>T c.13824C>T (p.Thr4608=) c.13779C>T (p.Thr4593=) c.13932C>T (p.Thr4644=) c.13512C>T (p.Thr4504=) c.12837C>T (p.Thr4279=) c.9021C>T (p.Thr3007=) c.8574C>T (p.Thr2858=) c.7911C>T (p.Thr2637=) c.12426C>T (p.Thr4142=) | gnomAD v4 |
5 | g.13692035G>C | CA443248653 | DNAH5 | n.1157C>G c.13824C>G (p.Thr4608=) c.13779C>G (p.Thr4593=) c.13932C>G (p.Thr4644=) c.13512C>G (p.Thr4504=) c.12837C>G (p.Thr4279=) c.9021C>G (p.Thr3007=) c.8574C>G (p.Thr2858=) c.7911C>G (p.Thr2637=) c.12426C>G (p.Thr4142=) | gnomAD v4 |
5 | g.13692035G>T | CA443248654 | DNAH5 | n.1157C>A c.13824C>A (p.Thr4608=) c.13779C>A (p.Thr4593=) c.13932C>A (p.Thr4644=) c.13512C>A (p.Thr4504=) c.12837C>A (p.Thr4279=) c.9021C>A (p.Thr3007=) c.8574C>A (p.Thr2858=) c.7911C>A (p.Thr2637=) c.12426C>A (p.Thr4142=) | |
5 | g.13692036G>A | CA359188583 | DNAH5 | n.1156C>T c.13823C>T (p.Thr4608Ile) c.13778C>T (p.Thr4593Ile) c.13931C>T (p.Thr4644Ile) c.13511C>T (p.Thr4504Ile) c.12836C>T (p.Thr4279Ile) c.9020C>T (p.Thr3007Ile) c.8573C>T (p.Thr2858Ile) c.7910C>T (p.Thr2637Ile) c.12425C>T (p.Thr4142Ile) | gnomAD v4 |
5 | g.13692036G>C | CA359188584 | DNAH5 | n.1156C>G c.13823C>G (p.Thr4608Ser) c.13778C>G (p.Thr4593Ser) c.13931C>G (p.Thr4644Ser) c.13511C>G (p.Thr4504Ser) c.12836C>G (p.Thr4279Ser) c.9020C>G (p.Thr3007Ser) c.8573C>G (p.Thr2858Ser) c.7910C>G (p.Thr2637Ser) c.12425C>G (p.Thr4142Ser) | dbSNP gnomAD v4 |
5 | g.13692036G= | CA1528395854 | DNAH5 | n.1156C= c.13823C= (p.Thr4608=) c.13778C= (p.Thr4593=) c.13931C= (p.Thr4644=) c.13511C= (p.Thr4504=) c.12836C= (p.Thr4279=) c.9020C= (p.Thr3007=) c.8573C= (p.Thr2858=) c.7910C= (p.Thr2637=) c.12425C= (p.Thr4142=) | |
5 | g.13692036G>T | CA359188585 | DNAH5 | n.1156C>A c.13823C>A (p.Thr4608Asn) c.13778C>A (p.Thr4593Asn) c.13931C>A (p.Thr4644Asn) c.13511C>A (p.Thr4504Asn) c.12836C>A (p.Thr4279Asn) c.9020C>A (p.Thr3007Asn) c.8573C>A (p.Thr2858Asn) c.7910C>A (p.Thr2637Asn) c.12425C>A (p.Thr4142Asn) | |
5 | g.13692037T>A | CA359188586 | DNAH5 | n.1155A>T c.13822A>T (p.Thr4608Ser) c.13777A>T (p.Thr4593Ser) c.13930A>T (p.Thr4644Ser) c.13510A>T (p.Thr4504Ser) c.12835A>T (p.Thr4279Ser) c.9019A>T (p.Thr3007Ser) c.8572A>T (p.Thr2858Ser) c.7909A>T (p.Thr2637Ser) c.12424A>T (p.Thr4142Ser) | |
5 | g.13692037T>C | CA359188587 | DNAH5 | n.1155A>G c.13822A>G (p.Thr4608Ala) c.13777A>G (p.Thr4593Ala) c.13930A>G (p.Thr4644Ala) c.13510A>G (p.Thr4504Ala) c.12835A>G (p.Thr4279Ala) c.9019A>G (p.Thr3007Ala) c.8572A>G (p.Thr2858Ala) c.7909A>G (p.Thr2637Ala) c.12424A>G (p.Thr4142Ala) | |
5 | g.13692037T>G | CA359188588 | DNAH5 | n.1155A>C c.13822A>C (p.Thr4608Pro) c.13777A>C (p.Thr4593Pro) c.13930A>C (p.Thr4644Pro) c.13510A>C (p.Thr4504Pro) c.12835A>C (p.Thr4279Pro) c.9019A>C (p.Thr3007Pro) c.8572A>C (p.Thr2858Pro) c.7909A>C (p.Thr2637Pro) c.12424A>C (p.Thr4142Pro) | |
5 | g.13692038C>A | CA359188589 | DNAH5 | n.1154G>T c.13821G>T (p.Gln4607His) c.13776G>T (p.Gln4592His) c.13929G>T (p.Gln4643His) c.13509G>T (p.Gln4503His) c.12834G>T (p.Gln4278His) c.9018G>T (p.Gln3006His) c.8571G>T (p.Gln2857His) c.7908G>T (p.Gln2636His) c.12423G>T (p.Gln4141His) | gnomAD v4 |
5 | g.13692038C>G | CA359188590 | DNAH5 | n.1154G>C c.13821G>C (p.Gln4607His) c.13776G>C (p.Gln4592His) c.13929G>C (p.Gln4643His) c.13509G>C (p.Gln4503His) c.12834G>C (p.Gln4278His) c.9018G>C (p.Gln3006His) c.8571G>C (p.Gln2857His) c.7908G>C (p.Gln2636His) c.12423G>C (p.Gln4141His) | |
5 | g.13692038C>T | CA443248660 | DNAH5 | n.1154G>A c.13821G>A (p.Gln4607=) c.13776G>A (p.Gln4592=) c.13929G>A (p.Gln4643=) c.13509G>A (p.Gln4503=) c.12834G>A (p.Gln4278=) c.9018G>A (p.Gln3006=) c.8571G>A (p.Gln2857=) c.7908G>A (p.Gln2636=) c.12423G>A (p.Gln4141=) | |
5 | g.13692039T>A | CA359188591 | DNAH5 | n.1153A>T c.13820A>T (p.Gln4607Leu) c.13775A>T (p.Gln4592Leu) c.13928A>T (p.Gln4643Leu) c.13508A>T (p.Gln4503Leu) c.12833A>T (p.Gln4278Leu) c.9017A>T (p.Gln3006Leu) c.8570A>T (p.Gln2857Leu) c.7907A>T (p.Gln2636Leu) c.12422A>T (p.Gln4141Leu) | |
5 | g.13692039T>C | CA359188593 | DNAH5 | n.1153A>G c.13820A>G (p.Gln4607Arg) c.13775A>G (p.Gln4592Arg) c.13928A>G (p.Gln4643Arg) c.13508A>G (p.Gln4503Arg) c.12833A>G (p.Gln4278Arg) c.9017A>G (p.Gln3006Arg) c.8570A>G (p.Gln2857Arg) c.7907A>G (p.Gln2636Arg) c.12422A>G (p.Gln4141Arg) | |
5 | g.13692039T>G | CA359188592 | DNAH5 | n.1153A>C c.13820A>C (p.Gln4607Pro) c.13775A>C (p.Gln4592Pro) c.13928A>C (p.Gln4643Pro) c.13508A>C (p.Gln4503Pro) c.12833A>C (p.Gln4278Pro) c.9017A>C (p.Gln3006Pro) c.8570A>C (p.Gln2857Pro) c.7907A>C (p.Gln2636Pro) c.12422A>C (p.Gln4141Pro) | |
5 | g.13692040G>A | CA359188594 | DNAH5 | n.1152C>T c.13819C>T (p.Gln4607Ter) c.13774C>T (p.Gln4592Ter) c.13927C>T (p.Gln4643Ter) c.13507C>T (p.Gln4503Ter) c.12832C>T (p.Gln4278Ter) c.9016C>T (p.Gln3006Ter) c.8569C>T (p.Gln2857Ter) c.7906C>T (p.Gln2636Ter) c.12421C>T (p.Gln4141Ter) | |
5 | g.13692040G>C | CA359188595 | DNAH5 | n.1152C>G c.13819C>G (p.Gln4607Glu) c.13774C>G (p.Gln4592Glu) c.13927C>G (p.Gln4643Glu) c.13507C>G (p.Gln4503Glu) c.12832C>G (p.Gln4278Glu) c.9016C>G (p.Gln3006Glu) c.8569C>G (p.Gln2857Glu) c.7906C>G (p.Gln2636Glu) c.12421C>G (p.Gln4141Glu) | |
5 | g.13692040G>T | CA359188596 | DNAH5 | n.1152C>A c.13819C>A (p.Gln4607Lys) c.13774C>A (p.Gln4592Lys) c.13927C>A (p.Gln4643Lys) c.13507C>A (p.Gln4503Lys) c.12832C>A (p.Gln4278Lys) c.9016C>A (p.Gln3006Lys) c.8569C>A (p.Gln2857Lys) c.7906C>A (p.Gln2636Lys) c.12421C>A (p.Gln4141Lys) | |
5 | g.13692041G>A | CA443248661 | DNAH5 | n.1151C>T c.13818C>T (p.Ala4606=) c.13773C>T (p.Ala4591=) c.13926C>T (p.Ala4642=) c.13506C>T (p.Ala4502=) c.12831C>T (p.Ala4277=) c.9015C>T (p.Ala3005=) c.8568C>T (p.Ala2856=) c.7905C>T (p.Ala2635=) c.12420C>T (p.Ala4140=) | |
5 | g.13692041G>C | CA443248663 | DNAH5 | n.1151C>G c.13818C>G (p.Ala4606=) c.13773C>G (p.Ala4591=) c.13926C>G (p.Ala4642=) c.13506C>G (p.Ala4502=) c.12831C>G (p.Ala4277=) c.9015C>G (p.Ala3005=) c.8568C>G (p.Ala2856=) c.7905C>G (p.Ala2635=) c.12420C>G (p.Ala4140=) | |
5 | g.13692041G>T | CA443248664 | DNAH5 | n.1151C>A c.13818C>A (p.Ala4606=) c.13773C>A (p.Ala4591=) c.13926C>A (p.Ala4642=) c.13506C>A (p.Ala4502=) c.12831C>A (p.Ala4277=) c.9015C>A (p.Ala3005=) c.8568C>A (p.Ala2856=) c.7905C>A (p.Ala2635=) c.12420C>A (p.Ala4140=) | |
5 | g.13692042G>A | CA3201234 | DNAH5 | n.1150C>T c.13817C>T (p.Ala4606Val) c.13772C>T (p.Ala4591Val) c.13925C>T (p.Ala4642Val) c.13505C>T (p.Ala4502Val) c.12830C>T (p.Ala4277Val) c.9014C>T (p.Ala3005Val) c.8567C>T (p.Ala2856Val) c.7904C>T (p.Ala2635Val) c.12419C>T (p.Ala4140Val) | dbSNP ExAC gnomAD v2 |
5 | g.13692042G>C | CA359188597 | DNAH5 | n.1150C>G c.13817C>G (p.Ala4606Gly) c.13772C>G (p.Ala4591Gly) c.13925C>G (p.Ala4642Gly) c.13505C>G (p.Ala4502Gly) c.12830C>G (p.Ala4277Gly) c.9014C>G (p.Ala3005Gly) c.8567C>G (p.Ala2856Gly) c.7904C>G (p.Ala2635Gly) c.12419C>G (p.Ala4140Gly) | |
5 | g.13692042G= | CA1528395855 | DNAH5 | n.1150C= c.13817C= (p.Ala4606=) c.13772C= (p.Ala4591=) c.13925C= (p.Ala4642=) c.13505C= (p.Ala4502=) c.12830C= (p.Ala4277=) c.9014C= (p.Ala3005=) c.8567C= (p.Ala2856=) c.7904C= (p.Ala2635=) c.12419C= (p.Ala4140=) | |
5 | g.13692042G>T | CA3201233 | DNAH5 | n.1150C>A c.13817C>A (p.Ala4606Asp) c.13772C>A (p.Ala4591Asp) c.13925C>A (p.Ala4642Asp) c.13505C>A (p.Ala4502Asp) c.12830C>A (p.Ala4277Asp) c.9014C>A (p.Ala3005Asp) c.8567C>A (p.Ala2856Asp) c.7904C>A (p.Ala2635Asp) c.12419C>A (p.Ala4140Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13692043C>A | CA359188598 | DNAH5 | n.1149G>T c.13816G>T (p.Ala4606Ser) c.13771G>T (p.Ala4591Ser) c.13924G>T (p.Ala4642Ser) c.13504G>T (p.Ala4502Ser) c.12829G>T (p.Ala4277Ser) c.9013G>T (p.Ala3005Ser) c.8566G>T (p.Ala2856Ser) c.7903G>T (p.Ala2635Ser) c.12418G>T (p.Ala4140Ser) | gnomAD v4 |
5 | g.13692043C>G | CA359188599 | DNAH5 | n.1149G>C c.13816G>C (p.Ala4606Pro) c.13771G>C (p.Ala4591Pro) c.13924G>C (p.Ala4642Pro) c.13504G>C (p.Ala4502Pro) c.12829G>C (p.Ala4277Pro) c.9013G>C (p.Ala3005Pro) c.8566G>C (p.Ala2856Pro) c.7903G>C (p.Ala2635Pro) c.12418G>C (p.Ala4140Pro) | gnomAD v4 |
5 | g.13692043C>T | CA359188600 | DNAH5 | n.1149G>A c.13816G>A (p.Ala4606Thr) c.13771G>A (p.Ala4591Thr) c.13924G>A (p.Ala4642Thr) c.13504G>A (p.Ala4502Thr) c.12829G>A (p.Ala4277Thr) c.9013G>A (p.Ala3005Thr) c.8566G>A (p.Ala2856Thr) c.7903G>A (p.Ala2635Thr) c.12418G>A (p.Ala4140Thr) | |
5 | g.13692044T>A | CA443248667 | DNAH5 | n.1148A>T c.13815A>T (p.Thr4605=) c.13770A>T (p.Thr4590=) c.13923A>T (p.Thr4641=) c.13503A>T (p.Thr4501=) c.12828A>T (p.Thr4276=) c.9012A>T (p.Thr3004=) c.8565A>T (p.Thr2855=) c.7902A>T (p.Thr2634=) c.12417A>T (p.Thr4139=) | |
5 | g.13692044T>C | CA443248668 | DNAH5 | n.1148A>G c.13815A>G (p.Thr4605=) c.13770A>G (p.Thr4590=) c.13923A>G (p.Thr4641=) c.13503A>G (p.Thr4501=) c.12828A>G (p.Thr4276=) c.9012A>G (p.Thr3004=) c.8565A>G (p.Thr2855=) c.7902A>G (p.Thr2634=) c.12417A>G (p.Thr4139=) | |
5 | g.13692044T>G | CA113905456 | DNAH5 | n.1148A>C c.13815A>C (p.Thr4605=) c.13770A>C (p.Thr4590=) c.13923A>C (p.Thr4641=) c.13503A>C (p.Thr4501=) c.12828A>C (p.Thr4276=) c.9012A>C (p.Thr3004=) c.8565A>C (p.Thr2855=) c.7902A>C (p.Thr2634=) c.12417A>C (p.Thr4139=) | dbSNP |
5 | g.13692044T= | CA1528395856 | DNAH5 | n.1148A= c.13815A= (p.Thr4605=) c.13770A= (p.Thr4590=) c.13923A= (p.Thr4641=) c.13503A= (p.Thr4501=) c.12828A= (p.Thr4276=) c.9012A= (p.Thr3004=) c.8565A= (p.Thr2855=) c.7902A= (p.Thr2634=) c.12417A= (p.Thr4139=) | |
5 | g.13692045G>A | CA359188602 | DNAH5 | n.1147C>T c.13814C>T (p.Thr4605Ile) c.13769C>T (p.Thr4590Ile) c.13922C>T (p.Thr4641Ile) c.13502C>T (p.Thr4501Ile) c.12827C>T (p.Thr4276Ile) c.9011C>T (p.Thr3004Ile) c.8564C>T (p.Thr2855Ile) c.7901C>T (p.Thr2634Ile) c.12416C>T (p.Thr4139Ile) | |
5 | g.13692045G>C | CA359188603 | DNAH5 | n.1147C>G c.13814C>G (p.Thr4605Arg) c.13769C>G (p.Thr4590Arg) c.13922C>G (p.Thr4641Arg) c.13502C>G (p.Thr4501Arg) c.12827C>G (p.Thr4276Arg) c.9011C>G (p.Thr3004Arg) c.8564C>G (p.Thr2855Arg) c.7901C>G (p.Thr2634Arg) c.12416C>G (p.Thr4139Arg) | |
5 | g.13692045G>T | CA359188601 | DNAH5 | n.1147C>A c.13814C>A (p.Thr4605Lys) c.13769C>A (p.Thr4590Lys) c.13922C>A (p.Thr4641Lys) c.13502C>A (p.Thr4501Lys) c.12827C>A (p.Thr4276Lys) c.9011C>A (p.Thr3004Lys) c.8564C>A (p.Thr2855Lys) c.7901C>A (p.Thr2634Lys) c.12416C>A (p.Thr4139Lys) | |
5 | g.13692046T>A | CA359188606 | DNAH5 | n.1146A>T c.13813A>T (p.Thr4605Ser) c.13768A>T (p.Thr4590Ser) c.13921A>T (p.Thr4641Ser) c.13501A>T (p.Thr4501Ser) c.12826A>T (p.Thr4276Ser) c.9010A>T (p.Thr3004Ser) c.8563A>T (p.Thr2855Ser) c.7900A>T (p.Thr2634Ser) c.12415A>T (p.Thr4139Ser) | |
5 | g.13692046T>C | CA359188604 | DNAH5 | n.1146A>G c.13813A>G (p.Thr4605Ala) c.13768A>G (p.Thr4590Ala) c.13921A>G (p.Thr4641Ala) c.13501A>G (p.Thr4501Ala) c.12826A>G (p.Thr4276Ala) c.9010A>G (p.Thr3004Ala) c.8563A>G (p.Thr2855Ala) c.7900A>G (p.Thr2634Ala) c.12415A>G (p.Thr4139Ala) | COSMIC |
5 | g.13692046T>G | CA359188605 | DNAH5 | n.1146A>C c.13813A>C (p.Thr4605Pro) c.13768A>C (p.Thr4590Pro) c.13921A>C (p.Thr4641Pro) c.13501A>C (p.Thr4501Pro) c.12826A>C (p.Thr4276Pro) c.9010A>C (p.Thr3004Pro) c.8563A>C (p.Thr2855Pro) c.7900A>C (p.Thr2634Pro) c.12415A>C (p.Thr4139Pro) | |
5 | g.13692047C>A | CA359188607 | DNAH5 | n.1145G>T c.13812G>T (p.Arg4604Ser) c.13767G>T (p.Arg4589Ser) c.13920G>T (p.Arg4640Ser) c.13500G>T (p.Arg4500Ser) c.12825G>T (p.Arg4275Ser) c.9009G>T (p.Arg3003Ser) c.8562G>T (p.Arg2854Ser) c.7899G>T (p.Arg2633Ser) c.12414G>T (p.Arg4138Ser) | dbSNP |
5 | g.13692047C= | CA1528395857 | DNAH5 | n.1145G= c.13812G= (p.Arg4604=) c.13767G= (p.Arg4589=) c.13920G= (p.Arg4640=) c.13500G= (p.Arg4500=) c.12825G= (p.Arg4275=) c.9009G= (p.Arg3003=) c.8562G= (p.Arg2854=) c.7899G= (p.Arg2633=) c.12414G= (p.Arg4138=) | |
5 | g.13692047C>G | CA359188608 | DNAH5 | n.1145G>C c.13812G>C (p.Arg4604Ser) c.13767G>C (p.Arg4589Ser) c.13920G>C (p.Arg4640Ser) c.13500G>C (p.Arg4500Ser) c.12825G>C (p.Arg4275Ser) c.9009G>C (p.Arg3003Ser) c.8562G>C (p.Arg2854Ser) c.7899G>C (p.Arg2633Ser) c.12414G>C (p.Arg4138Ser) | |
5 | g.13692047C>T | CA443248672 | DNAH5 | n.1145G>A c.13812G>A (p.Arg4604=) c.13767G>A (p.Arg4589=) c.13920G>A (p.Arg4640=) c.13500G>A (p.Arg4500=) c.12825G>A (p.Arg4275=) c.9009G>A (p.Arg3003=) c.8562G>A (p.Arg2854=) c.7899G>A (p.Arg2633=) c.12414G>A (p.Arg4138=) | gnomAD v4 |
5 | g.13692048C>A | CA359188609 | DNAH5 | n.1144G>T c.13811G>T (p.Arg4604Met) c.13766G>T (p.Arg4589Met) c.13919G>T (p.Arg4640Met) c.13499G>T (p.Arg4500Met) c.12824G>T (p.Arg4275Met) c.9008G>T (p.Arg3003Met) c.8561G>T (p.Arg2854Met) c.7898G>T (p.Arg2633Met) c.12413G>T (p.Arg4138Met) | |
5 | g.13692048C>G | CA359188610 | DNAH5 | n.1144G>C c.13811G>C (p.Arg4604Thr) c.13766G>C (p.Arg4589Thr) c.13919G>C (p.Arg4640Thr) c.13499G>C (p.Arg4500Thr) c.12824G>C (p.Arg4275Thr) c.9008G>C (p.Arg3003Thr) c.8561G>C (p.Arg2854Thr) c.7898G>C (p.Arg2633Thr) c.12413G>C (p.Arg4138Thr) | |
5 | g.13692048C>T | CA359188611 | DNAH5 | n.1144G>A c.13811G>A (p.Arg4604Lys) c.13766G>A (p.Arg4589Lys) c.13919G>A (p.Arg4640Lys) c.13499G>A (p.Arg4500Lys) c.12824G>A (p.Arg4275Lys) c.9008G>A (p.Arg3003Lys) c.8561G>A (p.Arg2854Lys) c.7898G>A (p.Arg2633Lys) c.12413G>A (p.Arg4138Lys) | gnomAD v4 |
5 | g.13692049T>A | CA359188612 | DNAH5 | n.1143A>T c.13810A>T (p.Arg4604Trp) c.13765A>T (p.Arg4589Trp) c.13918A>T (p.Arg4640Trp) c.13498A>T (p.Arg4500Trp) c.12823A>T (p.Arg4275Trp) c.9007A>T (p.Arg3003Trp) c.8560A>T (p.Arg2854Trp) c.7897A>T (p.Arg2633Trp) c.12412A>T (p.Arg4138Trp) | |
5 | g.13692049T>C | CA359188613 | DNAH5 | n.1143A>G c.13810A>G (p.Arg4604Gly) c.13765A>G (p.Arg4589Gly) c.13918A>G (p.Arg4640Gly) c.13498A>G (p.Arg4500Gly) c.12823A>G (p.Arg4275Gly) c.9007A>G (p.Arg3003Gly) c.8560A>G (p.Arg2854Gly) c.7897A>G (p.Arg2633Gly) c.12412A>G (p.Arg4138Gly) | |
5 | g.13692049T>G | CA443248679 | DNAH5 | n.1143A>C c.13810A>C (p.Arg4604=) c.13765A>C (p.Arg4589=) c.13918A>C (p.Arg4640=) c.13498A>C (p.Arg4500=) c.12823A>C (p.Arg4275=) c.9007A>C (p.Arg3003=) c.8560A>C (p.Arg2854=) c.7897A>C (p.Arg2633=) c.12412A>C (p.Arg4138=) | |
5 | g.13692050G>A | CA113905458 | DNAH5 | n.1142C>T c.13809C>T (p.Leu4603=) c.13764C>T (p.Leu4588=) c.13917C>T (p.Leu4639=) c.13497C>T (p.Leu4499=) c.12822C>T (p.Leu4274=) c.9006C>T (p.Leu3002=) c.8559C>T (p.Leu2853=) c.7896C>T (p.Leu2632=) c.12411C>T (p.Leu4137=) | dbSNP |
5 | g.13692050G>C | CA443248680 | DNAH5 | n.1142C>G c.13809C>G (p.Leu4603=) c.13764C>G (p.Leu4588=) c.13917C>G (p.Leu4639=) c.13497C>G (p.Leu4499=) c.12822C>G (p.Leu4274=) c.9006C>G (p.Leu3002=) c.8559C>G (p.Leu2853=) c.7896C>G (p.Leu2632=) c.12411C>G (p.Leu4137=) | |
5 | g.13692050G= | CA1528395858 | DNAH5 | n.1142C= c.13809C= (p.Leu4603=) c.13764C= (p.Leu4588=) c.13917C= (p.Leu4639=) c.13497C= (p.Leu4499=) c.12822C= (p.Leu4274=) c.9006C= (p.Leu3002=) c.8559C= (p.Leu2853=) c.7896C= (p.Leu2632=) c.12411C= (p.Leu4137=) | |
5 | g.13692050G>T | CA443248681 | DNAH5 | n.1142C>A c.13809C>A (p.Leu4603=) c.13764C>A (p.Leu4588=) c.13917C>A (p.Leu4639=) c.13497C>A (p.Leu4499=) c.12822C>A (p.Leu4274=) c.9006C>A (p.Leu3002=) c.8559C>A (p.Leu2853=) c.7896C>A (p.Leu2632=) c.12411C>A (p.Leu4137=) | |
5 | g.13692051A>C | CA359188614 | DNAH5 | n.1141T>G c.13808T>G (p.Leu4603Arg) c.13763T>G (p.Leu4588Arg) c.13916T>G (p.Leu4639Arg) c.13496T>G (p.Leu4499Arg) c.12821T>G (p.Leu4274Arg) c.9005T>G (p.Leu3002Arg) c.8558T>G (p.Leu2853Arg) c.7895T>G (p.Leu2632Arg) c.12410T>G (p.Leu4137Arg) | gnomAD v4 |
5 | g.13692051A>G | CA359188615 | DNAH5 | n.1141T>C c.13808T>C (p.Leu4603Pro) c.13763T>C (p.Leu4588Pro) c.13916T>C (p.Leu4639Pro) c.13496T>C (p.Leu4499Pro) c.12821T>C (p.Leu4274Pro) c.9005T>C (p.Leu3002Pro) c.8558T>C (p.Leu2853Pro) c.7895T>C (p.Leu2632Pro) c.12410T>C (p.Leu4137Pro) | |
5 | g.13692051A>T | CA359188616 | DNAH5 | n.1141T>A c.13808T>A (p.Leu4603His) c.13763T>A (p.Leu4588His) c.13916T>A (p.Leu4639His) c.13496T>A (p.Leu4499His) c.12821T>A (p.Leu4274His) c.9005T>A (p.Leu3002His) c.8558T>A (p.Leu2853His) c.7895T>A (p.Leu2632His) c.12410T>A (p.Leu4137His) | |
5 | g.13692052G>A | CA3201235 | DNAH5 | n.1140C>T c.13807C>T (p.Leu4603Phe) c.13762C>T (p.Leu4588Phe) c.13915C>T (p.Leu4639Phe) c.13495C>T (p.Leu4499Phe) c.12820C>T (p.Leu4274Phe) c.9004C>T (p.Leu3002Phe) c.8557C>T (p.Leu2853Phe) c.7894C>T (p.Leu2632Phe) c.12409C>T (p.Leu4137Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13692052G>C | CA359188618 | DNAH5 | n.1140C>G c.13807C>G (p.Leu4603Val) c.13762C>G (p.Leu4588Val) c.13915C>G (p.Leu4639Val) c.13495C>G (p.Leu4499Val) c.12820C>G (p.Leu4274Val) c.9004C>G (p.Leu3002Val) c.8557C>G (p.Leu2853Val) c.7894C>G (p.Leu2632Val) c.12409C>G (p.Leu4137Val) | |
5 | g.13692052G= | CA1528395859 | DNAH5 | n.1140C= c.13807C= (p.Leu4603=) c.13762C= (p.Leu4588=) c.13915C= (p.Leu4639=) c.13495C= (p.Leu4499=) c.12820C= (p.Leu4274=) c.9004C= (p.Leu3002=) c.8557C= (p.Leu2853=) c.7894C= (p.Leu2632=) c.12409C= (p.Leu4137=) | |
5 | g.13692052G>T | CA359188617 | DNAH5 | n.1140C>A c.13807C>A (p.Leu4603Ile) c.13762C>A (p.Leu4588Ile) c.13915C>A (p.Leu4639Ile) c.13495C>A (p.Leu4499Ile) c.12820C>A (p.Leu4274Ile) c.9004C>A (p.Leu3002Ile) c.8557C>A (p.Leu2853Ile) c.7894C>A (p.Leu2632Ile) c.12409C>A (p.Leu4137Ile) | |
5 | g.13692053A= | CA1528395860 | DNAH5 | n.1139T= c.13806T= (p.Asp4602=) c.13761T= (p.Asp4587=) c.13914T= (p.Asp4638=) c.13494T= (p.Asp4498=) c.12819T= (p.Asp4273=) c.9003T= (p.Asp3001=) c.8556T= (p.Asp2852=) c.7893T= (p.Asp2631=) c.12408T= (p.Asp4136=) | |
5 | g.13692053A>C | CA359188619 | DNAH5 | n.1139T>G c.13806T>G (p.Asp4602Glu) c.13761T>G (p.Asp4587Glu) c.13914T>G (p.Asp4638Glu) c.13494T>G (p.Asp4498Glu) c.12819T>G (p.Asp4273Glu) c.9003T>G (p.Asp3001Glu) c.8556T>G (p.Asp2852Glu) c.7893T>G (p.Asp2631Glu) c.12408T>G (p.Asp4136Glu) | |
5 | g.13692053A>G | CA443248684 | DNAH5 | n.1139T>C c.13806T>C (p.Asp4602=) c.13761T>C (p.Asp4587=) c.13914T>C (p.Asp4638=) c.13494T>C (p.Asp4498=) c.12819T>C (p.Asp4273=) c.9003T>C (p.Asp3001=) c.8556T>C (p.Asp2852=) c.7893T>C (p.Asp2631=) c.12408T>C (p.Asp4136=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13692053A>T | CA359188620 | DNAH5 | n.1139T>A c.13806T>A (p.Asp4602Glu) c.13761T>A (p.Asp4587Glu) c.13914T>A (p.Asp4638Glu) c.13494T>A (p.Asp4498Glu) c.12819T>A (p.Asp4273Glu) c.9003T>A (p.Asp3001Glu) c.8556T>A (p.Asp2852Glu) c.7893T>A (p.Asp2631Glu) c.12408T>A (p.Asp4136Glu) | |
5 | g.13692054T>A | CA359188621 | DNAH5 | n.1138A>T c.13805A>T (p.Asp4602Val) c.13760A>T (p.Asp4587Val) c.13913A>T (p.Asp4638Val) c.13493A>T (p.Asp4498Val) c.12818A>T (p.Asp4273Val) c.9002A>T (p.Asp3001Val) c.8555A>T (p.Asp2852Val) c.7892A>T (p.Asp2631Val) c.12407A>T (p.Asp4136Val) | |
5 | g.13692054T>C | CA359188622 | DNAH5 | n.1138A>G c.13805A>G (p.Asp4602Gly) c.13760A>G (p.Asp4587Gly) c.13913A>G (p.Asp4638Gly) c.13493A>G (p.Asp4498Gly) c.12818A>G (p.Asp4273Gly) c.9002A>G (p.Asp3001Gly) c.8555A>G (p.Asp2852Gly) c.7892A>G (p.Asp2631Gly) c.12407A>G (p.Asp4136Gly) | |
5 | g.13692054T>G | CA359188623 | DNAH5 | n.1138A>C c.13805A>C (p.Asp4602Ala) c.13760A>C (p.Asp4587Ala) c.13913A>C (p.Asp4638Ala) c.13493A>C (p.Asp4498Ala) c.12818A>C (p.Asp4273Ala) c.9002A>C (p.Asp3001Ala) c.8555A>C (p.Asp2852Ala) c.7892A>C (p.Asp2631Ala) c.12407A>C (p.Asp4136Ala) | |
5 | g.13692055C>A | CA359188624 | DNAH5 | n.1137G>T c.13804G>T (p.Asp4602Tyr) c.13759G>T (p.Asp4587Tyr) c.13912G>T (p.Asp4638Tyr) c.13492G>T (p.Asp4498Tyr) c.12817G>T (p.Asp4273Tyr) c.9001G>T (p.Asp3001Tyr) c.8554G>T (p.Asp2852Tyr) c.7891G>T (p.Asp2631Tyr) c.12406G>T (p.Asp4136Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13692055C= | CA1528395861 | DNAH5 | n.1137G= c.13804G= (p.Asp4602=) c.13759G= (p.Asp4587=) c.13912G= (p.Asp4638=) c.13492G= (p.Asp4498=) c.12817G= (p.Asp4273=) c.9001G= (p.Asp3001=) c.8554G= (p.Asp2852=) c.7891G= (p.Asp2631=) c.12406G= (p.Asp4136=) | |
5 | g.13692055C>G | CA359188625 | DNAH5 | n.1137G>C c.13804G>C (p.Asp4602His) c.13759G>C (p.Asp4587His) c.13912G>C (p.Asp4638His) c.13492G>C (p.Asp4498His) c.12817G>C (p.Asp4273His) c.9001G>C (p.Asp3001His) c.8554G>C (p.Asp2852His) c.7891G>C (p.Asp2631His) c.12406G>C (p.Asp4136His) | |
5 | g.13692055C>T | CA3201236 | DNAH5 | n.1137G>A c.13804G>A (p.Asp4602Asn) c.13759G>A (p.Asp4587Asn) c.13912G>A (p.Asp4638Asn) c.13492G>A (p.Asp4498Asn) c.12817G>A (p.Asp4273Asn) c.9001G>A (p.Asp3001Asn) c.8554G>A (p.Asp2852Asn) c.7891G>A (p.Asp2631Asn) c.12406G>A (p.Asp4136Asn) | dbSNP ExAC gnomAD v2 |
5 | g.13692056C>A | CA443248713 | DNAH5 | n.1136G>T c.13803G>T (p.Val4601=) c.13758G>T (p.Val4586=) c.13911G>T (p.Val4637=) c.13491G>T (p.Val4497=) c.12816G>T (p.Val4272=) c.9000G>T (p.Val3000=) c.8553G>T (p.Val2851=) c.7890G>T (p.Val2630=) c.12405G>T (p.Val4135=) | |
5 | g.13692056C>G | CA443248714 | DNAH5 | n.1136G>C c.13803G>C (p.Val4601=) c.13758G>C (p.Val4586=) c.13911G>C (p.Val4637=) c.13491G>C (p.Val4497=) c.12816G>C (p.Val4272=) c.9000G>C (p.Val3000=) c.8553G>C (p.Val2851=) c.7890G>C (p.Val2630=) c.12405G>C (p.Val4135=) | |
5 | g.13692056C>T | CA443248715 | DNAH5 | n.1136G>A c.13803G>A (p.Val4601=) c.13758G>A (p.Val4586=) c.13911G>A (p.Val4637=) c.13491G>A (p.Val4497=) c.12816G>A (p.Val4272=) c.9000G>A (p.Val3000=) c.8553G>A (p.Val2851=) c.7890G>A (p.Val2630=) c.12405G>A (p.Val4135=) | |
5 | g.13692057A= | CA1528395862 | DNAH5 | n.1135T= c.13802T= (p.Val4601=) c.13757T= (p.Val4586=) c.13910T= (p.Val4637=) c.13490T= (p.Val4497=) c.12815T= (p.Val4272=) c.8999T= (p.Val3000=) c.8552T= (p.Val2851=) c.7889T= (p.Val2630=) c.12404T= (p.Val4135=) | |
5 | g.13692057A>C | CA359188626 | DNAH5 | n.1135T>G c.13802T>G (p.Val4601Gly) c.13757T>G (p.Val4586Gly) c.13910T>G (p.Val4637Gly) c.13490T>G (p.Val4497Gly) c.12815T>G (p.Val4272Gly) c.8999T>G (p.Val3000Gly) c.8552T>G (p.Val2851Gly) c.7889T>G (p.Val2630Gly) c.12404T>G (p.Val4135Gly) | |
5 | g.13692057A>G | CA359188627 | DNAH5 | n.1135T>C c.13802T>C (p.Val4601Ala) c.13757T>C (p.Val4586Ala) c.13910T>C (p.Val4637Ala) c.13490T>C (p.Val4497Ala) c.12815T>C (p.Val4272Ala) c.8999T>C (p.Val3000Ala) c.8552T>C (p.Val2851Ala) c.7889T>C (p.Val2630Ala) c.12404T>C (p.Val4135Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13692057A>T | CA359188628 | DNAH5 | n.1135T>A c.13802T>A (p.Val4601Glu) c.13757T>A (p.Val4586Glu) c.13910T>A (p.Val4637Glu) c.13490T>A (p.Val4497Glu) c.12815T>A (p.Val4272Glu) c.8999T>A (p.Val3000Glu) c.8552T>A (p.Val2851Glu) c.7889T>A (p.Val2630Glu) c.12404T>A (p.Val4135Glu) | |
5 | g.13692058C>A | CA359188630 | DNAH5 | n.1134G>T c.13801G>T (p.Val4601Leu) c.13756G>T (p.Val4586Leu) c.13909G>T (p.Val4637Leu) c.13489G>T (p.Val4497Leu) c.12814G>T (p.Val4272Leu) c.8998G>T (p.Val3000Leu) c.8551G>T (p.Val2851Leu) c.7888G>T (p.Val2630Leu) c.12403G>T (p.Val4135Leu) | |
5 | g.13692058C>G | CA359188631 | DNAH5 | n.1134G>C c.13801G>C (p.Val4601Leu) c.13756G>C (p.Val4586Leu) c.13909G>C (p.Val4637Leu) c.13489G>C (p.Val4497Leu) c.12814G>C (p.Val4272Leu) c.8998G>C (p.Val3000Leu) c.8551G>C (p.Val2851Leu) c.7888G>C (p.Val2630Leu) c.12403G>C (p.Val4135Leu) | |
5 | g.13692058C>T | CA359188629 | DNAH5 | n.1134G>A c.13801G>A (p.Val4601Met) c.13756G>A (p.Val4586Met) c.13909G>A (p.Val4637Met) c.13489G>A (p.Val4497Met) c.12814G>A (p.Val4272Met) c.8998G>A (p.Val3000Met) c.8551G>A (p.Val2851Met) c.7888G>A (p.Val2630Met) c.12403G>A (p.Val4135Met) | |
5 | g.13692059A>C | CA443248719 | DNAH5 | n.1133T>G c.13800T>G (p.Ala4600=) c.13755T>G (p.Ala4585=) c.13908T>G (p.Ala4636=) c.13488T>G (p.Ala4496=) c.12813T>G (p.Ala4271=) c.8997T>G (p.Ala2999=) c.8550T>G (p.Ala2850=) c.7887T>G (p.Ala2629=) c.12402T>G (p.Ala4134=) | |
5 | g.13692059A>G | CA443248720 | DNAH5 | n.1133T>C c.13800T>C (p.Ala4600=) c.13755T>C (p.Ala4585=) c.13908T>C (p.Ala4636=) c.13488T>C (p.Ala4496=) c.12813T>C (p.Ala4271=) c.8997T>C (p.Ala2999=) c.8550T>C (p.Ala2850=) c.7887T>C (p.Ala2629=) c.12402T>C (p.Ala4134=) | |
5 | g.13692059A>T | CA443248721 | DNAH5 | n.1133T>A c.13800T>A (p.Ala4600=) c.13755T>A (p.Ala4585=) c.13908T>A (p.Ala4636=) c.13488T>A (p.Ala4496=) c.12813T>A (p.Ala4271=) c.8997T>A (p.Ala2999=) c.8550T>A (p.Ala2850=) c.7887T>A (p.Ala2629=) c.12402T>A (p.Ala4134=) | |
5 | g.13692060G>A | CA359188632 | DNAH5 | n.1132C>T c.13799C>T (p.Ala4600Val) c.13754C>T (p.Ala4585Val) c.13907C>T (p.Ala4636Val) c.13487C>T (p.Ala4496Val) c.12812C>T (p.Ala4271Val) c.8996C>T (p.Ala2999Val) c.8549C>T (p.Ala2850Val) c.7886C>T (p.Ala2629Val) c.12401C>T (p.Ala4134Val) | |
5 | g.13692060G>C | CA359188633 | DNAH5 | n.1132C>G c.13799C>G (p.Ala4600Gly) c.13754C>G (p.Ala4585Gly) c.13907C>G (p.Ala4636Gly) c.13487C>G (p.Ala4496Gly) c.12812C>G (p.Ala4271Gly) c.8996C>G (p.Ala2999Gly) c.8549C>G (p.Ala2850Gly) c.7886C>G (p.Ala2629Gly) c.12401C>G (p.Ala4134Gly) | |
5 | g.13692060G>T | CA359188634 | DNAH5 | n.1132C>A c.13799C>A (p.Ala4600Asp) c.13754C>A (p.Ala4585Asp) c.13907C>A (p.Ala4636Asp) c.13487C>A (p.Ala4496Asp) c.12812C>A (p.Ala4271Asp) c.8996C>A (p.Ala2999Asp) c.8549C>A (p.Ala2850Asp) c.7886C>A (p.Ala2629Asp) c.12401C>A (p.Ala4134Asp) | |
5 | g.13692061C>A | CA3201238 | DNAH5 | n.1131G>T c.13798G>T (p.Ala4600Ser) c.13753G>T (p.Ala4585Ser) c.13906G>T (p.Ala4636Ser) c.13486G>T (p.Ala4496Ser) c.12811G>T (p.Ala4271Ser) c.8995G>T (p.Ala2999Ser) c.8548G>T (p.Ala2850Ser) c.7885G>T (p.Ala2629Ser) c.12400G>T (p.Ala4134Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13692061C= | CA1528395863 | DNAH5 | n.1131G= c.13798G= (p.Ala4600=) c.13753G= (p.Ala4585=) c.13906G= (p.Ala4636=) c.13486G= (p.Ala4496=) c.12811G= (p.Ala4271=) c.8995G= (p.Ala2999=) c.8548G= (p.Ala2850=) c.7885G= (p.Ala2629=) c.12400G= (p.Ala4134=) | |
5 | g.13692061C>G | CA359188635 | DNAH5 | n.1131G>C c.13798G>C (p.Ala4600Pro) c.13753G>C (p.Ala4585Pro) c.13906G>C (p.Ala4636Pro) c.13486G>C (p.Ala4496Pro) c.12811G>C (p.Ala4271Pro) c.8995G>C (p.Ala2999Pro) c.8548G>C (p.Ala2850Pro) c.7885G>C (p.Ala2629Pro) c.12400G>C (p.Ala4134Pro) | |
5 | g.13692061C>T | CA3201237 | DNAH5 | n.1131G>A c.13798G>A (p.Ala4600Thr) c.13753G>A (p.Ala4585Thr) c.13906G>A (p.Ala4636Thr) c.13486G>A (p.Ala4496Thr) c.12811G>A (p.Ala4271Thr) c.8995G>A (p.Ala2999Thr) c.8548G>A (p.Ala2850Thr) c.7885G>A (p.Ala2629Thr) c.12400G>A (p.Ala4134Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13692062G>A | CA3201239 | DNAH5 | n.1130C>T c.13797C>T (p.Ala4599=) c.13752C>T (p.Ala4584=) c.13905C>T (p.Ala4635=) c.13485C>T (p.Ala4495=) c.12810C>T (p.Ala4270=) c.8994C>T (p.Ala2998=) c.8547C>T (p.Ala2849=) c.7884C>T (p.Ala2628=) c.12399C>T (p.Ala4133=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13692062G>C | CA443248723 | DNAH5 | n.1130C>G c.13797C>G (p.Ala4599=) c.13752C>G (p.Ala4584=) c.13905C>G (p.Ala4635=) c.13485C>G (p.Ala4495=) c.12810C>G (p.Ala4270=) c.8994C>G (p.Ala2998=) c.8547C>G (p.Ala2849=) c.7884C>G (p.Ala2628=) c.12399C>G (p.Ala4133=) | |
5 | g.13692062G= | CA1528395864 | DNAH5 | n.1130C= c.13797C= (p.Ala4599=) c.13752C= (p.Ala4584=) c.13905C= (p.Ala4635=) c.13485C= (p.Ala4495=) c.12810C= (p.Ala4270=) c.8994C= (p.Ala2998=) c.8547C= (p.Ala2849=) c.7884C= (p.Ala2628=) c.12399C= (p.Ala4133=) | |
5 | g.13692062G>T | CA443248724 | DNAH5 | n.1130C>A c.13797C>A (p.Ala4599=) c.13752C>A (p.Ala4584=) c.13905C>A (p.Ala4635=) c.13485C>A (p.Ala4495=) c.12810C>A (p.Ala4270=) c.8994C>A (p.Ala2998=) c.8547C>A (p.Ala2849=) c.7884C>A (p.Ala2628=) c.12399C>A (p.Ala4133=) | |
5 | g.13692063G>A | CA359188636 | DNAH5 | n.1129C>T c.13796C>T (p.Ala4599Val) c.13751C>T (p.Ala4584Val) c.13904C>T (p.Ala4635Val) c.13484C>T (p.Ala4495Val) c.12809C>T (p.Ala4270Val) c.8993C>T (p.Ala2998Val) c.8546C>T (p.Ala2849Val) c.7883C>T (p.Ala2628Val) c.12398C>T (p.Ala4133Val) | dbSNP gnomAD v4 |
5 | g.13692063G>C | CA359188638 | DNAH5 | n.1129C>G c.13796C>G (p.Ala4599Gly) c.13751C>G (p.Ala4584Gly) c.13904C>G (p.Ala4635Gly) c.13484C>G (p.Ala4495Gly) c.12809C>G (p.Ala4270Gly) c.8993C>G (p.Ala2998Gly) c.8546C>G (p.Ala2849Gly) c.7883C>G (p.Ala2628Gly) c.12398C>G (p.Ala4133Gly) | |
5 | g.13692063G= | CA1528395865 | DNAH5 | n.1129C= c.13796C= (p.Ala4599=) c.13751C= (p.Ala4584=) c.13904C= (p.Ala4635=) c.13484C= (p.Ala4495=) c.12809C= (p.Ala4270=) c.8993C= (p.Ala2998=) c.8546C= (p.Ala2849=) c.7883C= (p.Ala2628=) c.12398C= (p.Ala4133=) | |
5 | g.13692063G>T | CA359188637 | DNAH5 | n.1129C>A c.13796C>A (p.Ala4599Asp) c.13751C>A (p.Ala4584Asp) c.13904C>A (p.Ala4635Asp) c.13484C>A (p.Ala4495Asp) c.12809C>A (p.Ala4270Asp) c.8993C>A (p.Ala2998Asp) c.8546C>A (p.Ala2849Asp) c.7883C>A (p.Ala2628Asp) c.12398C>A (p.Ala4133Asp) | |
5 | g.13692064C>A | CA359188639 | DNAH5 | n.1128G>T c.13795G>T (p.Ala4599Ser) c.13750G>T (p.Ala4584Ser) c.13903G>T (p.Ala4635Ser) c.13483G>T (p.Ala4495Ser) c.12808G>T (p.Ala4270Ser) c.8992G>T (p.Ala2998Ser) c.8545G>T (p.Ala2849Ser) c.7882G>T (p.Ala2628Ser) c.12397G>T (p.Ala4133Ser) | |
5 | g.13692064C>G | CA359188640 | DNAH5 | n.1128G>C c.13795G>C (p.Ala4599Pro) c.13750G>C (p.Ala4584Pro) c.13903G>C (p.Ala4635Pro) c.13483G>C (p.Ala4495Pro) c.12808G>C (p.Ala4270Pro) c.8992G>C (p.Ala2998Pro) c.8545G>C (p.Ala2849Pro) c.7882G>C (p.Ala2628Pro) c.12397G>C (p.Ala4133Pro) | |
5 | g.13692064C>T | CA359188641 | DNAH5 | n.1128G>A c.13795G>A (p.Ala4599Thr) c.13750G>A (p.Ala4584Thr) c.13903G>A (p.Ala4635Thr) c.13483G>A (p.Ala4495Thr) c.12808G>A (p.Ala4270Thr) c.8992G>A (p.Ala2998Thr) c.8545G>A (p.Ala2849Thr) c.7882G>A (p.Ala2628Thr) c.12397G>A (p.Ala4133Thr) | |
5 | g.13692065A>C | CA359188642 | DNAH5 | n.1127T>G c.13794T>G (p.Ile4598Met) c.13749T>G (p.Ile4583Met) c.13902T>G (p.Ile4634Met) c.13482T>G (p.Ile4494Met) c.12807T>G (p.Ile4269Met) c.8991T>G (p.Ile2997Met) c.8544T>G (p.Ile2848Met) c.7881T>G (p.Ile2627Met) c.12396T>G (p.Ile4132Met) | |
5 | g.13692065A>G | CA443248726 | DNAH5 | n.1127T>C c.13794T>C (p.Ile4598=) c.13749T>C (p.Ile4583=) c.13902T>C (p.Ile4634=) c.13482T>C (p.Ile4494=) c.12807T>C (p.Ile4269=) c.8991T>C (p.Ile2997=) c.8544T>C (p.Ile2848=) c.7881T>C (p.Ile2627=) c.12396T>C (p.Ile4132=) | gnomAD v4 |
5 | g.13692065A>T | CA443248728 | DNAH5 | n.1127T>A c.13794T>A (p.Ile4598=) c.13749T>A (p.Ile4583=) c.13902T>A (p.Ile4634=) c.13482T>A (p.Ile4494=) c.12807T>A (p.Ile4269=) c.8991T>A (p.Ile2997=) c.8544T>A (p.Ile2848=) c.7881T>A (p.Ile2627=) c.12396T>A (p.Ile4132=) | |
5 | g.13692066A>C | CA359188643 | DNAH5 | n.1126T>G c.13793T>G (p.Ile4598Ser) c.13748T>G (p.Ile4583Ser) c.13901T>G (p.Ile4634Ser) c.13481T>G (p.Ile4494Ser) c.12806T>G (p.Ile4269Ser) c.8990T>G (p.Ile2997Ser) c.8543T>G (p.Ile2848Ser) c.7880T>G (p.Ile2627Ser) c.12395T>G (p.Ile4132Ser) | |
5 | g.13692066A>G | CA359188645 | DNAH5 | n.1126T>C c.13793T>C (p.Ile4598Thr) c.13748T>C (p.Ile4583Thr) c.13901T>C (p.Ile4634Thr) c.13481T>C (p.Ile4494Thr) c.12806T>C (p.Ile4269Thr) c.8990T>C (p.Ile2997Thr) c.8543T>C (p.Ile2848Thr) c.7880T>C (p.Ile2627Thr) c.12395T>C (p.Ile4132Thr) | |
5 | g.13692066A>T | CA359188644 | DNAH5 | n.1126T>A c.13793T>A (p.Ile4598Asn) c.13748T>A (p.Ile4583Asn) c.13901T>A (p.Ile4634Asn) c.13481T>A (p.Ile4494Asn) c.12806T>A (p.Ile4269Asn) c.8990T>A (p.Ile2997Asn) c.8543T>A (p.Ile2848Asn) c.7880T>A (p.Ile2627Asn) c.12395T>A (p.Ile4132Asn) | |
5 | g.13692067T>A | CA359188646 | DNAH5 | n.1125A>T c.13792A>T (p.Ile4598Phe) c.13747A>T (p.Ile4583Phe) c.13900A>T (p.Ile4634Phe) c.13480A>T (p.Ile4494Phe) c.12805A>T (p.Ile4269Phe) c.8989A>T (p.Ile2997Phe) c.8542A>T (p.Ile2848Phe) c.7879A>T (p.Ile2627Phe) c.12394A>T (p.Ile4132Phe) | dbSNP |
5 | g.13692067T>C | CA3201240 | DNAH5 | n.1125A>G c.13792A>G (p.Ile4598Val) c.13747A>G (p.Ile4583Val) c.13900A>G (p.Ile4634Val) c.13480A>G (p.Ile4494Val) c.12805A>G (p.Ile4269Val) c.8989A>G (p.Ile2997Val) c.8542A>G (p.Ile2848Val) c.7879A>G (p.Ile2627Val) c.12394A>G (p.Ile4132Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13692067T>G | CA359188647 | DNAH5 | n.1125A>C c.13792A>C (p.Ile4598Leu) c.13747A>C (p.Ile4583Leu) c.13900A>C (p.Ile4634Leu) c.13480A>C (p.Ile4494Leu) c.12805A>C (p.Ile4269Leu) c.8989A>C (p.Ile2997Leu) c.8542A>C (p.Ile2848Leu) c.7879A>C (p.Ile2627Leu) c.12394A>C (p.Ile4132Leu) | |
5 | g.13692067T= | CA1528395866 | DNAH5 | n.1125A= c.13792A= (p.Ile4598=) c.13747A= (p.Ile4583=) c.13900A= (p.Ile4634=) c.13480A= (p.Ile4494=) c.12805A= (p.Ile4269=) c.8989A= (p.Ile2997=) c.8542A= (p.Ile2848=) c.7879A= (p.Ile2627=) c.12394A= (p.Ile4132=) | |
5 | g.13692068G>A | CA443248731 | DNAH5 | n.1124C>T c.13791C>T (p.Tyr4597=) c.13746C>T (p.Tyr4582=) c.13899C>T (p.Tyr4633=) c.13479C>T (p.Tyr4493=) c.12804C>T (p.Tyr4268=) c.8988C>T (p.Tyr2996=) c.8541C>T (p.Tyr2847=) c.7878C>T (p.Tyr2626=) c.12393C>T (p.Tyr4131=) | ClinVar dbSNP |
5 | g.13692068G>C | CA359188648 | DNAH5 | n.1124C>G c.13791C>G (p.Tyr4597Ter) c.13746C>G (p.Tyr4582Ter) c.13899C>G (p.Tyr4633Ter) c.13479C>G (p.Tyr4493Ter) c.12804C>G (p.Tyr4268Ter) c.8988C>G (p.Tyr2996Ter) c.8541C>G (p.Tyr2847Ter) c.7878C>G (p.Tyr2626Ter) c.12393C>G (p.Tyr4131Ter) | |
5 | g.13692068G= | CA1528395867 | DNAH5 | n.1124C= c.13791C= (p.Tyr4597=) c.13746C= (p.Tyr4582=) c.13899C= (p.Tyr4633=) c.13479C= (p.Tyr4493=) c.12804C= (p.Tyr4268=) c.8988C= (p.Tyr2996=) c.8541C= (p.Tyr2847=) c.7878C= (p.Tyr2626=) c.12393C= (p.Tyr4131=) | |
5 | g.13692068G>T | CA359188649 | DNAH5 | n.1124C>A c.13791C>A (p.Tyr4597Ter) c.13746C>A (p.Tyr4582Ter) c.13899C>A (p.Tyr4633Ter) c.13479C>A (p.Tyr4493Ter) c.12804C>A (p.Tyr4268Ter) c.8988C>A (p.Tyr2996Ter) c.8541C>A (p.Tyr2847Ter) c.7878C>A (p.Tyr2626Ter) c.12393C>A (p.Tyr4131Ter) | |
5 | g.13692069T>A | CA359188650 | DNAH5 | n.1123A>T c.13790A>T (p.Tyr4597Phe) c.13745A>T (p.Tyr4582Phe) c.13898A>T (p.Tyr4633Phe) c.13478A>T (p.Tyr4493Phe) c.12803A>T (p.Tyr4268Phe) c.8987A>T (p.Tyr2996Phe) c.8540A>T (p.Tyr2847Phe) c.7877A>T (p.Tyr2626Phe) c.12392A>T (p.Tyr4131Phe) | |
5 | g.13692069T>C | CA359188651 | DNAH5 | n.1123A>G c.13790A>G (p.Tyr4597Cys) c.13745A>G (p.Tyr4582Cys) c.13898A>G (p.Tyr4633Cys) c.13478A>G (p.Tyr4493Cys) c.12803A>G (p.Tyr4268Cys) c.8987A>G (p.Tyr2996Cys) c.8540A>G (p.Tyr2847Cys) c.7877A>G (p.Tyr2626Cys) c.12392A>G (p.Tyr4131Cys) | |
5 | g.13692069T>G | CA359188652 | DNAH5 | n.1123A>C c.13790A>C (p.Tyr4597Ser) c.13745A>C (p.Tyr4582Ser) c.13898A>C (p.Tyr4633Ser) c.13478A>C (p.Tyr4493Ser) c.12803A>C (p.Tyr4268Ser) c.8987A>C (p.Tyr2996Ser) c.8540A>C (p.Tyr2847Ser) c.7877A>C (p.Tyr2626Ser) c.12392A>C (p.Tyr4131Ser) | |
5 | g.13692070A>C | CA359188653 | DNAH5 | n.1122T>G c.13789T>G (p.Tyr4597Asp) c.13744T>G (p.Tyr4582Asp) c.13897T>G (p.Tyr4633Asp) c.13477T>G (p.Tyr4493Asp) c.12802T>G (p.Tyr4268Asp) c.8986T>G (p.Tyr2996Asp) c.8539T>G (p.Tyr2847Asp) c.7876T>G (p.Tyr2626Asp) c.12391T>G (p.Tyr4131Asp) | |
5 | g.13692070A>G | CA359188654 | DNAH5 | n.1122T>C c.13789T>C (p.Tyr4597His) c.13744T>C (p.Tyr4582His) c.13897T>C (p.Tyr4633His) c.13477T>C (p.Tyr4493His) c.12802T>C (p.Tyr4268His) c.8986T>C (p.Tyr2996His) c.8539T>C (p.Tyr2847His) c.7876T>C (p.Tyr2626His) c.12391T>C (p.Tyr4131His) | |
5 | g.13692070A>T | CA359188655 | DNAH5 | n.1122T>A c.13789T>A (p.Tyr4597Asn) c.13744T>A (p.Tyr4582Asn) c.13897T>A (p.Tyr4633Asn) c.13477T>A (p.Tyr4493Asn) c.12802T>A (p.Tyr4268Asn) c.8986T>A (p.Tyr2996Asn) c.8539T>A (p.Tyr2847Asn) c.7876T>A (p.Tyr2626Asn) c.12391T>A (p.Tyr4131Asn) | |
5 | g.13692071G>A | CA443248736 | DNAH5 | n.1121C>T c.13788C>T (p.Asn4596=) c.13743C>T (p.Asn4581=) c.13896C>T (p.Asn4632=) c.13476C>T (p.Asn4492=) c.12801C>T (p.Asn4267=) c.8985C>T (p.Asn2995=) c.8538C>T (p.Asn2846=) c.7875C>T (p.Asn2625=) c.12390C>T (p.Asn4130=) | gnomAD v4 |
5 | g.13692071G>C | CA359188656 | DNAH5 | n.1121C>G c.13788C>G (p.Asn4596Lys) c.13743C>G (p.Asn4581Lys) c.13896C>G (p.Asn4632Lys) c.13476C>G (p.Asn4492Lys) c.12801C>G (p.Asn4267Lys) c.8985C>G (p.Asn2995Lys) c.8538C>G (p.Asn2846Lys) c.7875C>G (p.Asn2625Lys) c.12390C>G (p.Asn4130Lys) | |
5 | g.13692071G>T | CA359188657 | DNAH5 | n.1121C>A c.13788C>A (p.Asn4596Lys) c.13743C>A (p.Asn4581Lys) c.13896C>A (p.Asn4632Lys) c.13476C>A (p.Asn4492Lys) c.12801C>A (p.Asn4267Lys) c.8985C>A (p.Asn2995Lys) c.8538C>A (p.Asn2846Lys) c.7875C>A (p.Asn2625Lys) c.12390C>A (p.Asn4130Lys) | |
5 | g.13692071_13692074del | CA2673266103 | DNAH5 | n.1118_1121del c.13785_13788del (p.Leu4595PhefsTer?) c.13740_13743del (p.Leu4580PhefsTer?) c.13893_13896del (p.Leu4631PhefsTer?) c.13473_13476del (p.Leu4491PhefsTer?) c.12798_12801del (p.Leu4266PhefsTer?) c.8982_8985del (p.Leu2994PhefsTer?) c.8535_8538del (p.Leu2845PhefsTer?) c.7872_7875del (p.Leu2624PhefsTer?) c.12387_12390del (p.Leu4129PhefsTer?) | gnomAD v4 |
5 | g.13692072T>A | CA359188659 | DNAH5 | n.1120A>T c.13787A>T (p.Asn4596Ile) c.13742A>T (p.Asn4581Ile) c.13895A>T (p.Asn4632Ile) c.13475A>T (p.Asn4492Ile) c.12800A>T (p.Asn4267Ile) c.8984A>T (p.Asn2995Ile) c.8537A>T (p.Asn2846Ile) c.7874A>T (p.Asn2625Ile) c.12389A>T (p.Asn4130Ile) | |
5 | g.13692072T>C | CA359188660 | DNAH5 | n.1120A>G c.13787A>G (p.Asn4596Ser) c.13742A>G (p.Asn4581Ser) c.13895A>G (p.Asn4632Ser) c.13475A>G (p.Asn4492Ser) c.12800A>G (p.Asn4267Ser) c.8984A>G (p.Asn2995Ser) c.8537A>G (p.Asn2846Ser) c.7874A>G (p.Asn2625Ser) c.12389A>G (p.Asn4130Ser) | |
5 | g.13692072T>G | CA359188658 | DNAH5 | n.1120A>C c.13787A>C (p.Asn4596Thr) c.13742A>C (p.Asn4581Thr) c.13895A>C (p.Asn4632Thr) c.13475A>C (p.Asn4492Thr) c.12800A>C (p.Asn4267Thr) c.8984A>C (p.Asn2995Thr) c.8537A>C (p.Asn2846Thr) c.7874A>C (p.Asn2625Thr) c.12389A>C (p.Asn4130Thr) | |
5 | g.13692073T>A | CA359188661 | DNAH5 | n.1119A>T c.13786A>T (p.Asn4596Tyr) c.13741A>T (p.Asn4581Tyr) c.13894A>T (p.Asn4632Tyr) c.13474A>T (p.Asn4492Tyr) c.12799A>T (p.Asn4267Tyr) c.8983A>T (p.Asn2995Tyr) c.8536A>T (p.Asn2846Tyr) c.7873A>T (p.Asn2625Tyr) c.12388A>T (p.Asn4130Tyr) | |
5 | g.13692073T>C | CA359188662 | DNAH5 | n.1119A>G c.13786A>G (p.Asn4596Asp) c.13741A>G (p.Asn4581Asp) c.13894A>G (p.Asn4632Asp) c.13474A>G (p.Asn4492Asp) c.12799A>G (p.Asn4267Asp) c.8983A>G (p.Asn2995Asp) c.8536A>G (p.Asn2846Asp) c.7873A>G (p.Asn2625Asp) c.12388A>G (p.Asn4130Asp) | |
5 | g.13692073T>G | CA359188663 | DNAH5 | n.1119A>C c.13786A>C (p.Asn4596His) c.13741A>C (p.Asn4581His) c.13894A>C (p.Asn4632His) c.13474A>C (p.Asn4492His) c.12799A>C (p.Asn4267His) c.8983A>C (p.Asn2995His) c.8536A>C (p.Asn2846His) c.7873A>C (p.Asn2625His) c.12388A>C (p.Asn4130His) | |
5 | g.13692074C>A | CA359188664 | DNAH5 | n.1118G>T c.13785G>T (p.Leu4595Phe) c.13740G>T (p.Leu4580Phe) c.13893G>T (p.Leu4631Phe) c.13473G>T (p.Leu4491Phe) c.12798G>T (p.Leu4266Phe) c.8982G>T (p.Leu2994Phe) c.8535G>T (p.Leu2845Phe) c.7872G>T (p.Leu2624Phe) c.12387G>T (p.Leu4129Phe) | |
5 | g.13692074C>G | CA359188665 | DNAH5 | n.1118G>C c.13785G>C (p.Leu4595Phe) c.13740G>C (p.Leu4580Phe) c.13893G>C (p.Leu4631Phe) c.13473G>C (p.Leu4491Phe) c.12798G>C (p.Leu4266Phe) c.8982G>C (p.Leu2994Phe) c.8535G>C (p.Leu2845Phe) c.7872G>C (p.Leu2624Phe) c.12387G>C (p.Leu4129Phe) | |
5 | g.13692074C>T | CA443248738 | DNAH5 | n.1118G>A c.13785G>A (p.Leu4595=) c.13740G>A (p.Leu4580=) c.13893G>A (p.Leu4631=) c.13473G>A (p.Leu4491=) c.12798G>A (p.Leu4266=) c.8982G>A (p.Leu2994=) c.8535G>A (p.Leu2845=) c.7872G>A (p.Leu2624=) c.12387G>A (p.Leu4129=) | |
5 | g.13692075A>C | CA359188668 | DNAH5 | n.1117T>G c.13784T>G (p.Leu4595Trp) c.13739T>G (p.Leu4580Trp) c.13892T>G (p.Leu4631Trp) c.13472T>G (p.Leu4491Trp) c.12797T>G (p.Leu4266Trp) c.8981T>G (p.Leu2994Trp) c.8534T>G (p.Leu2845Trp) c.7871T>G (p.Leu2624Trp) c.12386T>G (p.Leu4129Trp) | |
5 | g.13692075A>G | CA359188667 | DNAH5 | n.1117T>C c.13784T>C (p.Leu4595Ser) c.13739T>C (p.Leu4580Ser) c.13892T>C (p.Leu4631Ser) c.13472T>C (p.Leu4491Ser) c.12797T>C (p.Leu4266Ser) c.8981T>C (p.Leu2994Ser) c.8534T>C (p.Leu2845Ser) c.7871T>C (p.Leu2624Ser) c.12386T>C (p.Leu4129Ser) | |
5 | g.13692075A>T | CA359188666 | DNAH5 | n.1117T>A c.13784T>A (p.Leu4595Ter) c.13739T>A (p.Leu4580Ter) c.13892T>A (p.Leu4631Ter) c.13472T>A (p.Leu4491Ter) c.12797T>A (p.Leu4266Ter) c.8981T>A (p.Leu2994Ter) c.8534T>A (p.Leu2845Ter) c.7871T>A (p.Leu2624Ter) c.12386T>A (p.Leu4129Ter) | |
5 | g.13692076A>C | CA359188669 | DNAH5 | n.1116T>G c.13783T>G (p.Leu4595Val) c.13738T>G (p.Leu4580Val) c.13891T>G (p.Leu4631Val) c.13471T>G (p.Leu4491Val) c.12796T>G (p.Leu4266Val) c.8980T>G (p.Leu2994Val) c.8533T>G (p.Leu2845Val) c.7870T>G (p.Leu2624Val) c.12385T>G (p.Leu4129Val) | |
5 | g.13692076A>G | CA443248743 | DNAH5 | n.1116T>C c.13783T>C (p.Leu4595=) c.13738T>C (p.Leu4580=) c.13891T>C (p.Leu4631=) c.13471T>C (p.Leu4491=) c.12796T>C (p.Leu4266=) c.8980T>C (p.Leu2994=) c.8533T>C (p.Leu2845=) c.7870T>C (p.Leu2624=) c.12385T>C (p.Leu4129=) | |
5 | g.13692076A>T | CA359188670 | DNAH5 | n.1116T>A c.13783T>A (p.Leu4595Met) c.13738T>A (p.Leu4580Met) c.13891T>A (p.Leu4631Met) c.13471T>A (p.Leu4491Met) c.12796T>A (p.Leu4266Met) c.8980T>A (p.Leu2994Met) c.8533T>A (p.Leu2845Met) c.7870T>A (p.Leu2624Met) c.12385T>A (p.Leu4129Met) | |
5 | g.13692077G>A | CA443248744 | DNAH5 | n.1115C>T c.13782C>T (p.Asp4594=) c.13737C>T (p.Asp4579=) c.13890C>T (p.Asp4630=) c.13470C>T (p.Asp4490=) c.12795C>T (p.Asp4265=) c.8979C>T (p.Asp2993=) c.8532C>T (p.Asp2844=) c.7869C>T (p.Asp2623=) c.12384C>T (p.Asp4128=) | gnomAD v4 |
5 | g.13692077G>C | CA359188671 | DNAH5 | n.1115C>G c.13782C>G (p.Asp4594Glu) c.13737C>G (p.Asp4579Glu) c.13890C>G (p.Asp4630Glu) c.13470C>G (p.Asp4490Glu) c.12795C>G (p.Asp4265Glu) c.8979C>G (p.Asp2993Glu) c.8532C>G (p.Asp2844Glu) c.7869C>G (p.Asp2623Glu) c.12384C>G (p.Asp4128Glu) | |
5 | g.13692077G>T | CA359188672 | DNAH5 | n.1115C>A c.13782C>A (p.Asp4594Glu) c.13737C>A (p.Asp4579Glu) c.13890C>A (p.Asp4630Glu) c.13470C>A (p.Asp4490Glu) c.12795C>A (p.Asp4265Glu) c.8979C>A (p.Asp2993Glu) c.8532C>A (p.Asp2844Glu) c.7869C>A (p.Asp2623Glu) c.12384C>A (p.Asp4128Glu) | |
5 | g.13692078T>A | CA359188673 | DNAH5 | n.1114A>T c.13781A>T (p.Asp4594Val) c.13736A>T (p.Asp4579Val) c.13889A>T (p.Asp4630Val) c.13469A>T (p.Asp4490Val) c.12794A>T (p.Asp4265Val) c.8978A>T (p.Asp2993Val) c.8531A>T (p.Asp2844Val) c.7868A>T (p.Asp2623Val) c.12383A>T (p.Asp4128Val) | |
5 | g.13692078T>C | CA359188674 | DNAH5 | n.1114A>G c.13781A>G (p.Asp4594Gly) c.13736A>G (p.Asp4579Gly) c.13889A>G (p.Asp4630Gly) c.13469A>G (p.Asp4490Gly) c.12794A>G (p.Asp4265Gly) c.8978A>G (p.Asp2993Gly) c.8531A>G (p.Asp2844Gly) c.7868A>G (p.Asp2623Gly) c.12383A>G (p.Asp4128Gly) | |
5 | g.13692078T>G | CA359188675 | DNAH5 | n.1114A>C c.13781A>C (p.Asp4594Ala) c.13736A>C (p.Asp4579Ala) c.13889A>C (p.Asp4630Ala) c.13469A>C (p.Asp4490Ala) c.12794A>C (p.Asp4265Ala) c.8978A>C (p.Asp2993Ala) c.8531A>C (p.Asp2844Ala) c.7868A>C (p.Asp2623Ala) c.12383A>C (p.Asp4128Ala) | |
5 | g.13692079C>A | CA3201241 | DNAH5 | n.1113G>T c.13780G>T (p.Asp4594Tyr) c.13735G>T (p.Asp4579Tyr) c.13888G>T (p.Asp4630Tyr) c.13468G>T (p.Asp4490Tyr) c.12793G>T (p.Asp4265Tyr) c.8977G>T (p.Asp2993Tyr) c.8530G>T (p.Asp2844Tyr) c.7867G>T (p.Asp2623Tyr) c.12382G>T (p.Asp4128Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13692079C= | CA1528395868 | DNAH5 | n.1113G= c.13780G= (p.Asp4594=) c.13735G= (p.Asp4579=) c.13888G= (p.Asp4630=) c.13468G= (p.Asp4490=) c.12793G= (p.Asp4265=) c.8977G= (p.Asp2993=) c.8530G= (p.Asp2844=) c.7867G= (p.Asp2623=) c.12382G= (p.Asp4128=) | |
5 | g.13692079C>G | CA359188677 | DNAH5 | n.1113G>C c.13780G>C (p.Asp4594His) c.13735G>C (p.Asp4579His) c.13888G>C (p.Asp4630His) c.13468G>C (p.Asp4490His) c.12793G>C (p.Asp4265His) c.8977G>C (p.Asp2993His) c.8530G>C (p.Asp2844His) c.7867G>C (p.Asp2623His) c.12382G>C (p.Asp4128His) | |
5 | g.13692079C>T | CA359188676 | DNAH5 | n.1113G>A c.13780G>A (p.Asp4594Asn) c.13735G>A (p.Asp4579Asn) c.13888G>A (p.Asp4630Asn) c.13468G>A (p.Asp4490Asn) c.12793G>A (p.Asp4265Asn) c.8977G>A (p.Asp2993Asn) c.8530G>A (p.Asp2844Asn) c.7867G>A (p.Asp2623Asn) c.12382G>A (p.Asp4128Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
5 | g.13692080C>A | CA443248748 | DNAH5 | n.1112G>T c.13779G>T (p.Thr4593=) c.13734G>T (p.Thr4578=) c.13887G>T (p.Thr4629=) c.13467G>T (p.Thr4489=) c.12792G>T (p.Thr4264=) c.8976G>T (p.Thr2992=) c.8529G>T (p.Thr2843=) c.7866G>T (p.Thr2622=) c.12381G>T (p.Thr4127=) | gnomAD v4 |
5 | g.13692080C= | CA1528395869 | DNAH5 | n.1112G= c.13779G= (p.Thr4593=) c.13734G= (p.Thr4578=) c.13887G= (p.Thr4629=) c.13467G= (p.Thr4489=) c.12792G= (p.Thr4264=) c.8976G= (p.Thr2992=) c.8529G= (p.Thr2843=) c.7866G= (p.Thr2622=) c.12381G= (p.Thr4127=) | |
5 | g.13692080C>G | CA443248749 | DNAH5 | n.1112G>C c.13779G>C (p.Thr4593=) c.13734G>C (p.Thr4578=) c.13887G>C (p.Thr4629=) c.13467G>C (p.Thr4489=) c.12792G>C (p.Thr4264=) c.8976G>C (p.Thr2992=) c.8529G>C (p.Thr2843=) c.7866G>C (p.Thr2622=) c.12381G>C (p.Thr4127=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13692080C>T | CA3201242 | DNAH5 | n.1112G>A c.13779G>A (p.Thr4593=) c.13734G>A (p.Thr4578=) c.13887G>A (p.Thr4629=) c.13467G>A (p.Thr4489=) c.12792G>A (p.Thr4264=) c.8976G>A (p.Thr2992=) c.8529G>A (p.Thr2843=) c.7866G>A (p.Thr2622=) c.12381G>A (p.Thr4127=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13692081G>A | CA348633 | DNAH5 | n.1111C>T c.13778C>T (p.Thr4593Met) c.13733C>T (p.Thr4578Met) c.13886C>T (p.Thr4629Met) c.13466C>T (p.Thr4489Met) c.12791C>T (p.Thr4264Met) c.8975C>T (p.Thr2992Met) c.8528C>T (p.Thr2843Met) c.7865C>T (p.Thr2622Met) c.12380C>T (p.Thr4127Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13692081G>C | CA359188678 | DNAH5 | n.1111C>G c.13778C>G (p.Thr4593Arg) c.13733C>G (p.Thr4578Arg) c.13886C>G (p.Thr4629Arg) c.13466C>G (p.Thr4489Arg) c.12791C>G (p.Thr4264Arg) c.8975C>G (p.Thr2992Arg) c.8528C>G (p.Thr2843Arg) c.7865C>G (p.Thr2622Arg) c.12380C>G (p.Thr4127Arg) | |
5 | g.13692081G= | CA1528395870 | DNAH5 | n.1111C= c.13778C= (p.Thr4593=) c.13733C= (p.Thr4578=) c.13886C= (p.Thr4629=) c.13466C= (p.Thr4489=) c.12791C= (p.Thr4264=) c.8975C= (p.Thr2992=) c.8528C= (p.Thr2843=) c.7865C= (p.Thr2622=) c.12380C= (p.Thr4127=) | |
5 | g.13692081G>T | CA359188679 | DNAH5 | n.1111C>A c.13778C>A (p.Thr4593Lys) c.13733C>A (p.Thr4578Lys) c.13886C>A (p.Thr4629Lys) c.13466C>A (p.Thr4489Lys) c.12791C>A (p.Thr4264Lys) c.8975C>A (p.Thr2992Lys) c.8528C>A (p.Thr2843Lys) c.7865C>A (p.Thr2622Lys) c.12380C>A (p.Thr4127Lys) | |
5 | g.13692082T>A | CA3201243 | DNAH5 | n.1110A>T c.13777A>T (p.Thr4593Ser) c.13732A>T (p.Thr4578Ser) c.13885A>T (p.Thr4629Ser) c.13465A>T (p.Thr4489Ser) c.12790A>T (p.Thr4264Ser) c.8974A>T (p.Thr2992Ser) c.8527A>T (p.Thr2843Ser) c.7864A>T (p.Thr2622Ser) c.12379A>T (p.Thr4127Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13692082T>C | CA359188680 | DNAH5 | n.1110A>G c.13777A>G (p.Thr4593Ala) c.13732A>G (p.Thr4578Ala) c.13885A>G (p.Thr4629Ala) c.13465A>G (p.Thr4489Ala) c.12790A>G (p.Thr4264Ala) c.8974A>G (p.Thr2992Ala) c.8527A>G (p.Thr2843Ala) c.7864A>G (p.Thr2622Ala) c.12379A>G (p.Thr4127Ala) | |
5 | g.13692082T>G | CA359188681 | DNAH5 | n.1110A>C c.13777A>C (p.Thr4593Pro) c.13732A>C (p.Thr4578Pro) c.13885A>C (p.Thr4629Pro) c.13465A>C (p.Thr4489Pro) c.12790A>C (p.Thr4264Pro) c.8974A>C (p.Thr2992Pro) c.8527A>C (p.Thr2843Pro) c.7864A>C (p.Thr2622Pro) c.12379A>C (p.Thr4127Pro) | |
5 | g.13692082T= | CA1528395871 | DNAH5 | n.1110A= c.13777A= (p.Thr4593=) c.13732A= (p.Thr4578=) c.13885A= (p.Thr4629=) c.13465A= (p.Thr4489=) c.12790A= (p.Thr4264=) c.8974A= (p.Thr2992=) c.8527A= (p.Thr2843=) c.7864A= (p.Thr2622=) c.12379A= (p.Thr4127=) | |
5 | g.13692083T>A | CA443248754 | DNAH5 | n.1109A>T c.13776A>T (p.Arg4592=) c.13731A>T (p.Arg4577=) c.13884A>T (p.Arg4628=) c.13464A>T (p.Arg4488=) c.12789A>T (p.Arg4263=) c.8973A>T (p.Arg2991=) c.8526A>T (p.Arg2842=) c.7863A>T (p.Arg2621=) c.12378A>T (p.Arg4126=) | |
5 | g.13692083T>C | CA443248755 | DNAH5 | n.1109A>G c.13776A>G (p.Arg4592=) c.13731A>G (p.Arg4577=) c.13884A>G (p.Arg4628=) c.13464A>G (p.Arg4488=) c.12789A>G (p.Arg4263=) c.8973A>G (p.Arg2991=) c.8526A>G (p.Arg2842=) c.7863A>G (p.Arg2621=) c.12378A>G (p.Arg4126=) | |
5 | g.13692083T>G | CA443248757 | DNAH5 | n.1109A>C c.13776A>C (p.Arg4592=) c.13731A>C (p.Arg4577=) c.13884A>C (p.Arg4628=) c.13464A>C (p.Arg4488=) c.12789A>C (p.Arg4263=) c.8973A>C (p.Arg2991=) c.8526A>C (p.Arg2842=) c.7863A>C (p.Arg2621=) c.12378A>C (p.Arg4126=) | |
5 | g.13692084C>A | CA3201245 | DNAH5 | n.1108G>T c.13775G>T (p.Arg4592Leu) c.13730G>T (p.Arg4577Leu) c.13883G>T (p.Arg4628Leu) c.13463G>T (p.Arg4488Leu) c.12788G>T (p.Arg4263Leu) c.8972G>T (p.Arg2991Leu) c.8525G>T (p.Arg2842Leu) c.7862G>T (p.Arg2621Leu) c.12377G>T (p.Arg4126Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
5 | g.13692084C= | CA1528395872 | DNAH5 | n.1108G= c.13775G= (p.Arg4592=) c.13730G= (p.Arg4577=) c.13883G= (p.Arg4628=) c.13463G= (p.Arg4488=) c.12788G= (p.Arg4263=) c.8972G= (p.Arg2991=) c.8525G= (p.Arg2842=) c.7862G= (p.Arg2621=) c.12377G= (p.Arg4126=) | |
5 | g.13692084C>G | CA359188682 | DNAH5 | n.1108G>C c.13775G>C (p.Arg4592Pro) c.13730G>C (p.Arg4577Pro) c.13883G>C (p.Arg4628Pro) c.13463G>C (p.Arg4488Pro) c.12788G>C (p.Arg4263Pro) c.8972G>C (p.Arg2991Pro) c.8525G>C (p.Arg2842Pro) c.7862G>C (p.Arg2621Pro) c.12377G>C (p.Arg4126Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13692084C>T | CA3201244 | DNAH5 | n.1108G>A c.13775G>A (p.Arg4592Gln) c.13730G>A (p.Arg4577Gln) c.13883G>A (p.Arg4628Gln) c.13463G>A (p.Arg4488Gln) c.12788G>A (p.Arg4263Gln) c.8972G>A (p.Arg2991Gln) c.8525G>A (p.Arg2842Gln) c.7862G>A (p.Arg2621Gln) c.12377G>A (p.Arg4126Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13692085G>A | CA3201246 | DNAH5 | n.1107C>T c.13774C>T (p.Arg4592Ter) c.13729C>T (p.Arg4577Ter) c.13882C>T (p.Arg4628Ter) c.13462C>T (p.Arg4488Ter) c.12787C>T (p.Arg4263Ter) c.8971C>T (p.Arg2991Ter) c.8524C>T (p.Arg2842Ter) c.7861C>T (p.Arg2621Ter) c.12376C>T (p.Arg4126Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
5 | g.13692085G>C | CA359188683 | DNAH5 | n.1107C>G c.13774C>G (p.Arg4592Gly) c.13729C>G (p.Arg4577Gly) c.13882C>G (p.Arg4628Gly) c.13462C>G (p.Arg4488Gly) c.12787C>G (p.Arg4263Gly) c.8971C>G (p.Arg2991Gly) c.8524C>G (p.Arg2842Gly) c.7861C>G (p.Arg2621Gly) c.12376C>G (p.Arg4126Gly) | COSMIC |
5 | g.13692085G= | CA1528395873 | DNAH5 | n.1107C= c.13774C= (p.Arg4592=) c.13729C= (p.Arg4577=) c.13882C= (p.Arg4628=) c.13462C= (p.Arg4488=) c.12787C= (p.Arg4263=) c.8971C= (p.Arg2991=) c.8524C= (p.Arg2842=) c.7861C= (p.Arg2621=) c.12376C= (p.Arg4126=) | |
5 | g.13692085G>T | CA443248759 | DNAH5 | n.1107C>A c.13774C>A (p.Arg4592=) c.13729C>A (p.Arg4577=) c.13882C>A (p.Arg4628=) c.13462C>A (p.Arg4488=) c.12787C>A (p.Arg4263=) c.8971C>A (p.Arg2991=) c.8524C>A (p.Arg2842=) c.7861C>A (p.Arg2621=) c.12376C>A (p.Arg4126=) | ClinVar |
5 | g.13692086A= | CA1528395874 | DNAH5 | n.1106T= c.13773T= (p.Val4591=) c.13728T= (p.Val4576=) c.13881T= (p.Val4627=) c.13461T= (p.Val4487=) c.12786T= (p.Val4262=) c.8970T= (p.Val2990=) c.8523T= (p.Val2841=) c.7860T= (p.Val2620=) c.12375T= (p.Val4125=) | |
5 | g.13692086A>C | CA443248765 | DNAH5 | n.1106T>G c.13773T>G (p.Val4591=) c.13728T>G (p.Val4576=) c.13881T>G (p.Val4627=) c.13461T>G (p.Val4487=) c.12786T>G (p.Val4262=) c.8970T>G (p.Val2990=) c.8523T>G (p.Val2841=) c.7860T>G (p.Val2620=) c.12375T>G (p.Val4125=) | ClinVar dbSNP gnomAD v4 |
5 | g.13692086A>G | CA443248764 | DNAH5 | n.1106T>C c.13773T>C (p.Val4591=) c.13728T>C (p.Val4576=) c.13881T>C (p.Val4627=) c.13461T>C (p.Val4487=) c.12786T>C (p.Val4262=) c.8970T>C (p.Val2990=) c.8523T>C (p.Val2841=) c.7860T>C (p.Val2620=) c.12375T>C (p.Val4125=) | |
5 | g.13692086A>T | CA443248761 | DNAH5 | n.1106T>A c.13773T>A (p.Val4591=) c.13728T>A (p.Val4576=) c.13881T>A (p.Val4627=) c.13461T>A (p.Val4487=) c.12786T>A (p.Val4262=) c.8970T>A (p.Val2990=) c.8523T>A (p.Val2841=) c.7860T>A (p.Val2620=) c.12375T>A (p.Val4125=) | |
5 | g.13692087A>C | CA359188686 | DNAH5 | n.1105T>G c.13772T>G (p.Val4591Gly) c.13727T>G (p.Val4576Gly) c.13880T>G (p.Val4627Gly) c.13460T>G (p.Val4487Gly) c.12785T>G (p.Val4262Gly) c.8969T>G (p.Val2990Gly) c.8522T>G (p.Val2841Gly) c.7859T>G (p.Val2620Gly) c.12374T>G (p.Val4125Gly) | |
5 | g.13692087A>G | CA359188684 | DNAH5 | n.1105T>C c.13772T>C (p.Val4591Ala) c.13727T>C (p.Val4576Ala) c.13880T>C (p.Val4627Ala) c.13460T>C (p.Val4487Ala) c.12785T>C (p.Val4262Ala) c.8969T>C (p.Val2990Ala) c.8522T>C (p.Val2841Ala) c.7859T>C (p.Val2620Ala) c.12374T>C (p.Val4125Ala) | |
5 | g.13692087A>T | CA359188685 | DNAH5 | n.1105T>A c.13772T>A (p.Val4591Asp) c.13727T>A (p.Val4576Asp) c.13880T>A (p.Val4627Asp) c.13460T>A (p.Val4487Asp) c.12785T>A (p.Val4262Asp) c.8969T>A (p.Val2990Asp) c.8522T>A (p.Val2841Asp) c.7859T>A (p.Val2620Asp) c.12374T>A (p.Val4125Asp) | |
5 | g.13692088C>A | CA359188687 | DNAH5 | n.1104G>T c.13771G>T (p.Val4591Phe) c.13726G>T (p.Val4576Phe) c.13879G>T (p.Val4627Phe) c.13459G>T (p.Val4487Phe) c.12784G>T (p.Val4262Phe) c.8968G>T (p.Val2990Phe) c.8521G>T (p.Val2841Phe) c.7858G>T (p.Val2620Phe) c.12373G>T (p.Val4125Phe) | |
5 | g.13692088C= | CA1528395875 | DNAH5 | n.1104G= c.13771G= (p.Val4591=) c.13726G= (p.Val4576=) c.13879G= (p.Val4627=) c.13459G= (p.Val4487=) c.12784G= (p.Val4262=) c.8968G= (p.Val2990=) c.8521G= (p.Val2841=) c.7858G= (p.Val2620=) c.12373G= (p.Val4125=) | |
5 | g.13692088C>G | CA359188688 | DNAH5 | n.1104G>C c.13771G>C (p.Val4591Leu) c.13726G>C (p.Val4576Leu) c.13879G>C (p.Val4627Leu) c.13459G>C (p.Val4487Leu) c.12784G>C (p.Val4262Leu) c.8968G>C (p.Val2990Leu) c.8521G>C (p.Val2841Leu) c.7858G>C (p.Val2620Leu) c.12373G>C (p.Val4125Leu) | |
5 | g.13692088C>T | CA359188689 | DNAH5 | n.1104G>A c.13771G>A (p.Val4591Ile) c.13726G>A (p.Val4576Ile) c.13879G>A (p.Val4627Ile) c.13459G>A (p.Val4487Ile) c.12784G>A (p.Val4262Ile) c.8968G>A (p.Val2990Ile) c.8521G>A (p.Val2841Ile) c.7858G>A (p.Val2620Ile) c.12373G>A (p.Val4125Ile) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13692089T>A | CA443248769 | DNAH5 | n.1103A>T c.13770A>T (p.Pro4590=) c.13725A>T (p.Pro4575=) c.13878A>T (p.Pro4626=) c.13458A>T (p.Pro4486=) c.12783A>T (p.Pro4261=) c.8967A>T (p.Pro2989=) c.8520A>T (p.Pro2840=) c.7857A>T (p.Pro2619=) c.12372A>T (p.Pro4124=) | |
5 | g.13692089T>C | CA443248771 | DNAH5 | n.1103A>G c.13770A>G (p.Pro4590=) c.13725A>G (p.Pro4575=) c.13878A>G (p.Pro4626=) c.13458A>G (p.Pro4486=) c.12783A>G (p.Pro4261=) c.8967A>G (p.Pro2989=) c.8520A>G (p.Pro2840=) c.7857A>G (p.Pro2619=) c.12372A>G (p.Pro4124=) | gnomAD v4 |
5 | g.13692089T>G | CA443248774 | DNAH5 | n.1103A>C c.13770A>C (p.Pro4590=) c.13725A>C (p.Pro4575=) c.13878A>C (p.Pro4626=) c.13458A>C (p.Pro4486=) c.12783A>C (p.Pro4261=) c.8967A>C (p.Pro2989=) c.8520A>C (p.Pro2840=) c.7857A>C (p.Pro2619=) c.12372A>C (p.Pro4124=) |