Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.13735224C>A | CA359223211 | DNAH5 | c.11668G>T (p.Glu3890Ter) c.11623G>T (p.Glu3875Ter) c.11776G>T (p.Glu3926Ter) c.10681G>T (p.Glu3561Ter) c.6865G>T (p.Glu2289Ter) c.6418G>T (p.Glu2140Ter) c.5755G>T (p.Glu1919Ter) c.10270G>T (p.Glu3424Ter) | ClinVar gnomAD v4 |
5 | g.13735224C>G | CA359223203 | DNAH5 | c.11668G>C (p.Glu3890Gln) c.11623G>C (p.Glu3875Gln) c.11776G>C (p.Glu3926Gln) c.10681G>C (p.Glu3561Gln) c.6865G>C (p.Glu2289Gln) c.6418G>C (p.Glu2140Gln) c.5755G>C (p.Glu1919Gln) c.10270G>C (p.Glu3424Gln) | |
5 | g.13735224C>T | CA359223210 | DNAH5 | c.11668G>A (p.Glu3890Lys) c.11623G>A (p.Glu3875Lys) c.11776G>A (p.Glu3926Lys) c.10681G>A (p.Glu3561Lys) c.6865G>A (p.Glu2289Lys) c.6418G>A (p.Glu2140Lys) c.5755G>A (p.Glu1919Lys) c.10270G>A (p.Glu3424Lys) | COSMIC |
5 | g.13735229_13735239del | CA2573138433 | DNAH5 | c.11658_11668del (p.Leu3887AlafsTer14) c.11613_11623del (p.Leu3872AlafsTer14) c.11766_11776del (p.Leu3923AlafsTer14) c.10671_10681del (p.Leu3558AlafsTer14) c.6855_6865del (p.Leu2286AlafsTer14) c.6408_6418del (p.Leu2137AlafsTer14) c.5745_5755del (p.Leu1916AlafsTer14) c.10260_10270del (p.Leu3421AlafsTer14) | ClinVar dbSNP |
5 | g.13735225C>A | CA359223214 | DNAH5 | c.11667G>T (p.Glu3889Asp) c.11622G>T (p.Glu3874Asp) c.11775G>T (p.Glu3925Asp) c.10680G>T (p.Glu3560Asp) c.6864G>T (p.Glu2288Asp) c.6417G>T (p.Glu2139Asp) c.5754G>T (p.Glu1918Asp) c.10269G>T (p.Glu3423Asp) | |
5 | g.13735225C>G | CA359223215 | DNAH5 | c.11667G>C (p.Glu3889Asp) c.11622G>C (p.Glu3874Asp) c.11775G>C (p.Glu3925Asp) c.10680G>C (p.Glu3560Asp) c.6864G>C (p.Glu2288Asp) c.6417G>C (p.Glu2139Asp) c.5754G>C (p.Glu1918Asp) c.10269G>C (p.Glu3423Asp) | |
5 | g.13735225C>T | CA443260024 | DNAH5 | c.11667G>A (p.Glu3889=) c.11622G>A (p.Glu3874=) c.11775G>A (p.Glu3925=) c.10680G>A (p.Glu3560=) c.6864G>A (p.Glu2288=) c.6417G>A (p.Glu2139=) c.5754G>A (p.Glu1918=) c.10269G>A (p.Glu3423=) | |
5 | g.13735226T>A | CA359223216 | DNAH5 | c.11666A>T (p.Glu3889Val) c.11621A>T (p.Glu3874Val) c.11774A>T (p.Glu3925Val) c.10679A>T (p.Glu3560Val) c.6863A>T (p.Glu2288Val) c.6416A>T (p.Glu2139Val) c.5753A>T (p.Glu1918Val) c.10268A>T (p.Glu3423Val) | |
5 | g.13735226T>C | CA359223218 | DNAH5 | c.11666A>G (p.Glu3889Gly) c.11621A>G (p.Glu3874Gly) c.11774A>G (p.Glu3925Gly) c.10679A>G (p.Glu3560Gly) c.6863A>G (p.Glu2288Gly) c.6416A>G (p.Glu2139Gly) c.5753A>G (p.Glu1918Gly) c.10268A>G (p.Glu3423Gly) | |
5 | g.13735226T>G | CA359223222 | DNAH5 | c.11666A>C (p.Glu3889Ala) c.11621A>C (p.Glu3874Ala) c.11774A>C (p.Glu3925Ala) c.10679A>C (p.Glu3560Ala) c.6863A>C (p.Glu2288Ala) c.6416A>C (p.Glu2139Ala) c.5753A>C (p.Glu1918Ala) c.10268A>C (p.Glu3423Ala) | |
5 | g.13735227C>A | CA359223225 | DNAH5 | c.11665G>T (p.Glu3889Ter) c.11620G>T (p.Glu3874Ter) c.11773G>T (p.Glu3925Ter) c.10678G>T (p.Glu3560Ter) c.6862G>T (p.Glu2288Ter) c.6415G>T (p.Glu2139Ter) c.5752G>T (p.Glu1918Ter) c.10267G>T (p.Glu3423Ter) | |
5 | g.13735227C= | CA1528414839 | DNAH5 | c.11665G= (p.Glu3889=) c.11620G= (p.Glu3874=) c.11773G= (p.Glu3925=) c.10678G= (p.Glu3560=) c.6862G= (p.Glu2288=) c.6415G= (p.Glu2139=) c.5752G= (p.Glu1918=) c.10267G= (p.Glu3423=) | |
5 | g.13735227C>G | CA359223226 | DNAH5 | c.11665G>C (p.Glu3889Gln) c.11620G>C (p.Glu3874Gln) c.11773G>C (p.Glu3925Gln) c.10678G>C (p.Glu3560Gln) c.6862G>C (p.Glu2288Gln) c.6415G>C (p.Glu2139Gln) c.5752G>C (p.Glu1918Gln) c.10267G>C (p.Glu3423Gln) | |
5 | g.13735227C>T | CA359223230 | DNAH5 | c.11665G>A (p.Glu3889Lys) c.11620G>A (p.Glu3874Lys) c.11773G>A (p.Glu3925Lys) c.10678G>A (p.Glu3560Lys) c.6862G>A (p.Glu2288Lys) c.6415G>A (p.Glu2139Lys) c.5752G>A (p.Glu1918Lys) c.10267G>A (p.Glu3423Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
5 | g.13735228G>A | CA3201878 | DNAH5 | c.11664C>T (p.Tyr3888=) c.11619C>T (p.Tyr3873=) c.11772C>T (p.Tyr3924=) c.10677C>T (p.Tyr3559=) c.6861C>T (p.Tyr2287=) c.6414C>T (p.Tyr2138=) c.5751C>T (p.Tyr1917=) c.10266C>T (p.Tyr3422=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13735228G>C | CA359223235 | DNAH5 | c.11664C>G (p.Tyr3888Ter) c.11619C>G (p.Tyr3873Ter) c.11772C>G (p.Tyr3924Ter) c.10677C>G (p.Tyr3559Ter) c.6861C>G (p.Tyr2287Ter) c.6414C>G (p.Tyr2138Ter) c.5751C>G (p.Tyr1917Ter) c.10266C>G (p.Tyr3422Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735228G= | CA1528414840 | DNAH5 | c.11664C= (p.Tyr3888=) c.11619C= (p.Tyr3873=) c.11772C= (p.Tyr3924=) c.10677C= (p.Tyr3559=) c.6861C= (p.Tyr2287=) c.6414C= (p.Tyr2138=) c.5751C= (p.Tyr1917=) c.10266C= (p.Tyr3422=) | |
5 | g.13735228G>T | CA359223238 | DNAH5 | c.11664C>A (p.Tyr3888Ter) c.11619C>A (p.Tyr3873Ter) c.11772C>A (p.Tyr3924Ter) c.10677C>A (p.Tyr3559Ter) c.6861C>A (p.Tyr2287Ter) c.6414C>A (p.Tyr2138Ter) c.5751C>A (p.Tyr1917Ter) c.10266C>A (p.Tyr3422Ter) | COSMIC |
5 | g.13735229T>A | CA359223241 | DNAH5 | c.11663A>T (p.Tyr3888Phe) c.11618A>T (p.Tyr3873Phe) c.11771A>T (p.Tyr3924Phe) c.10676A>T (p.Tyr3559Phe) c.6860A>T (p.Tyr2287Phe) c.6413A>T (p.Tyr2138Phe) c.5750A>T (p.Tyr1917Phe) c.10265A>T (p.Tyr3422Phe) | |
5 | g.13735229T>C | CA359223244 | DNAH5 | c.11663A>G (p.Tyr3888Cys) c.11618A>G (p.Tyr3873Cys) c.11771A>G (p.Tyr3924Cys) c.10676A>G (p.Tyr3559Cys) c.6860A>G (p.Tyr2287Cys) c.6413A>G (p.Tyr2138Cys) c.5750A>G (p.Tyr1917Cys) c.10265A>G (p.Tyr3422Cys) | gnomAD v4 |
5 | g.13735229T>G | CA359223239 | DNAH5 | c.11663A>C (p.Tyr3888Ser) c.11618A>C (p.Tyr3873Ser) c.11771A>C (p.Tyr3924Ser) c.10676A>C (p.Tyr3559Ser) c.6860A>C (p.Tyr2287Ser) c.6413A>C (p.Tyr2138Ser) c.5750A>C (p.Tyr1917Ser) c.10265A>C (p.Tyr3422Ser) | |
5 | g.13735230A>C | CA359223248 | DNAH5 | c.11662T>G (p.Tyr3888Asp) c.11617T>G (p.Tyr3873Asp) c.11770T>G (p.Tyr3924Asp) c.10675T>G (p.Tyr3559Asp) c.6859T>G (p.Tyr2287Asp) c.6412T>G (p.Tyr2138Asp) c.5749T>G (p.Tyr1917Asp) c.10264T>G (p.Tyr3422Asp) | |
5 | g.13735230A>G | CA359223257 | DNAH5 | c.11662T>C (p.Tyr3888His) c.11617T>C (p.Tyr3873His) c.11770T>C (p.Tyr3924His) c.10675T>C (p.Tyr3559His) c.6859T>C (p.Tyr2287His) c.6412T>C (p.Tyr2138His) c.5749T>C (p.Tyr1917His) c.10264T>C (p.Tyr3422His) | |
5 | g.13735230A>T | CA359223259 | DNAH5 | c.11662T>A (p.Tyr3888Asn) c.11617T>A (p.Tyr3873Asn) c.11770T>A (p.Tyr3924Asn) c.10675T>A (p.Tyr3559Asn) c.6859T>A (p.Tyr2287Asn) c.6412T>A (p.Tyr2138Asn) c.5749T>A (p.Tyr1917Asn) c.10264T>A (p.Tyr3422Asn) | |
5 | g.13735231C>A | CA443260025 | DNAH5 | c.11661G>T (p.Leu3887=) c.11616G>T (p.Leu3872=) c.11769G>T (p.Leu3923=) c.10674G>T (p.Leu3558=) c.6858G>T (p.Leu2286=) c.6411G>T (p.Leu2137=) c.5748G>T (p.Leu1916=) c.10263G>T (p.Leu3421=) | |
5 | g.13735231C= | CA1528414841 | DNAH5 | c.11661G= (p.Leu3887=) c.11616G= (p.Leu3872=) c.11769G= (p.Leu3923=) c.10674G= (p.Leu3558=) c.6858G= (p.Leu2286=) c.6411G= (p.Leu2137=) c.5748G= (p.Leu1916=) c.10263G= (p.Leu3421=) | |
5 | g.13735231C>G | CA443260026 | DNAH5 | c.11661G>C (p.Leu3887=) c.11616G>C (p.Leu3872=) c.11769G>C (p.Leu3923=) c.10674G>C (p.Leu3558=) c.6858G>C (p.Leu2286=) c.6411G>C (p.Leu2137=) c.5748G>C (p.Leu1916=) c.10263G>C (p.Leu3421=) | |
5 | g.13735231C>T | CA443260027 | DNAH5 | c.11661G>A (p.Leu3887=) c.11616G>A (p.Leu3872=) c.11769G>A (p.Leu3923=) c.10674G>A (p.Leu3558=) c.6858G>A (p.Leu2286=) c.6411G>A (p.Leu2137=) c.5748G>A (p.Leu1916=) c.10263G>A (p.Leu3421=) | ClinVar dbSNP |
5 | g.13735232A>C | CA359223262 | DNAH5 | c.11660T>G (p.Leu3887Arg) c.11615T>G (p.Leu3872Arg) c.11768T>G (p.Leu3923Arg) c.10673T>G (p.Leu3558Arg) c.6857T>G (p.Leu2286Arg) c.6410T>G (p.Leu2137Arg) c.5747T>G (p.Leu1916Arg) c.10262T>G (p.Leu3421Arg) | |
5 | g.13735232A>G | CA359223265 | DNAH5 | c.11660T>C (p.Leu3887Pro) c.11615T>C (p.Leu3872Pro) c.11768T>C (p.Leu3923Pro) c.10673T>C (p.Leu3558Pro) c.6857T>C (p.Leu2286Pro) c.6410T>C (p.Leu2137Pro) c.5747T>C (p.Leu1916Pro) c.10262T>C (p.Leu3421Pro) | |
5 | g.13735232A>T | CA359223267 | DNAH5 | c.11660T>A (p.Leu3887Gln) c.11615T>A (p.Leu3872Gln) c.11768T>A (p.Leu3923Gln) c.10673T>A (p.Leu3558Gln) c.6857T>A (p.Leu2286Gln) c.6410T>A (p.Leu2137Gln) c.5747T>A (p.Leu1916Gln) c.10262T>A (p.Leu3421Gln) | |
5 | g.13735233G>A | CA113926968 | DNAH5 | c.11659C>T (p.Leu3887=) c.11614C>T (p.Leu3872=) c.11767C>T (p.Leu3923=) c.10672C>T (p.Leu3558=) c.6856C>T (p.Leu2286=) c.6409C>T (p.Leu2137=) c.5746C>T (p.Leu1916=) c.10261C>T (p.Leu3421=) | dbSNP |
5 | g.13735233G>C | CA359223271 | DNAH5 | c.11659C>G (p.Leu3887Val) c.11614C>G (p.Leu3872Val) c.11767C>G (p.Leu3923Val) c.10672C>G (p.Leu3558Val) c.6856C>G (p.Leu2286Val) c.6409C>G (p.Leu2137Val) c.5746C>G (p.Leu1916Val) c.10261C>G (p.Leu3421Val) | |
5 | g.13735233G= | CA1528414842 | DNAH5 | c.11659C= (p.Leu3887=) c.11614C= (p.Leu3872=) c.11767C= (p.Leu3923=) c.10672C= (p.Leu3558=) c.6856C= (p.Leu2286=) c.6409C= (p.Leu2137=) c.5746C= (p.Leu1916=) c.10261C= (p.Leu3421=) | |
5 | g.13735233G>T | CA359223277 | DNAH5 | c.11659C>A (p.Leu3887Met) c.11614C>A (p.Leu3872Met) c.11767C>A (p.Leu3923Met) c.10672C>A (p.Leu3558Met) c.6856C>A (p.Leu2286Met) c.6409C>A (p.Leu2137Met) c.5746C>A (p.Leu1916Met) c.10261C>A (p.Leu3421Met) | |
5 | g.13735234C>A | CA443260030 | DNAH5 | c.11658G>T (p.Gly3886=) c.11613G>T (p.Gly3871=) c.11766G>T (p.Gly3922=) c.10671G>T (p.Gly3557=) c.6855G>T (p.Gly2285=) c.6408G>T (p.Gly2136=) c.5745G>T (p.Gly1915=) c.10260G>T (p.Gly3420=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13735234C= | CA1528414843 | DNAH5 | c.11658G= (p.Gly3886=) c.11613G= (p.Gly3871=) c.11766G= (p.Gly3922=) c.10671G= (p.Gly3557=) c.6855G= (p.Gly2285=) c.6408G= (p.Gly2136=) c.5745G= (p.Gly1915=) c.10260G= (p.Gly3420=) | |
5 | g.13735234C>G | CA443260028 | DNAH5 | c.11658G>C (p.Gly3886=) c.11613G>C (p.Gly3871=) c.11766G>C (p.Gly3922=) c.10671G>C (p.Gly3557=) c.6855G>C (p.Gly2285=) c.6408G>C (p.Gly2136=) c.5745G>C (p.Gly1915=) c.10260G>C (p.Gly3420=) | |
5 | g.13735234C>T | CA443260029 | DNAH5 | c.11658G>A (p.Gly3886=) c.11613G>A (p.Gly3871=) c.11766G>A (p.Gly3922=) c.10671G>A (p.Gly3557=) c.6855G>A (p.Gly2285=) c.6408G>A (p.Gly2136=) c.5745G>A (p.Gly1915=) c.10260G>A (p.Gly3420=) | gnomAD v4 |
5 | g.13735235C>A | CA359223281 | DNAH5 | c.11657G>T (p.Gly3886Val) c.11612G>T (p.Gly3871Val) c.11765G>T (p.Gly3922Val) c.10670G>T (p.Gly3557Val) c.6854G>T (p.Gly2285Val) c.6407G>T (p.Gly2136Val) c.5744G>T (p.Gly1915Val) c.10259G>T (p.Gly3420Val) | COSMIC |
5 | g.13735235C>G | CA359223283 | DNAH5 | c.11657G>C (p.Gly3886Ala) c.11612G>C (p.Gly3871Ala) c.11765G>C (p.Gly3922Ala) c.10670G>C (p.Gly3557Ala) c.6854G>C (p.Gly2285Ala) c.6407G>C (p.Gly2136Ala) c.5744G>C (p.Gly1915Ala) c.10259G>C (p.Gly3420Ala) | |
5 | g.13735235C>T | CA359223284 | DNAH5 | c.11657G>A (p.Gly3886Glu) c.11612G>A (p.Gly3871Glu) c.11765G>A (p.Gly3922Glu) c.10670G>A (p.Gly3557Glu) c.6854G>A (p.Gly2285Glu) c.6407G>A (p.Gly2136Glu) c.5744G>A (p.Gly1915Glu) c.10259G>A (p.Gly3420Glu) | |
5 | g.13735236C>A | CA359223289 | DNAH5 | c.11656G>T (p.Gly3886Trp) c.11611G>T (p.Gly3871Trp) c.11764G>T (p.Gly3922Trp) c.10669G>T (p.Gly3557Trp) c.*90G>T (n.*90G>T) c.6853G>T (p.Gly2285Trp) c.6406G>T (p.Gly2136Trp) c.5743G>T (p.Gly1915Trp) c.10258G>T (p.Gly3420Trp) | |
5 | g.13735236C>G | CA359223292 | DNAH5 | c.11656G>C (p.Gly3886Arg) c.11611G>C (p.Gly3871Arg) c.11764G>C (p.Gly3922Arg) c.10669G>C (p.Gly3557Arg) c.*90G>C (n.*90G>C) c.6853G>C (p.Gly2285Arg) c.6406G>C (p.Gly2136Arg) c.5743G>C (p.Gly1915Arg) c.10258G>C (p.Gly3420Arg) | |
5 | g.13735236C>T | CA359223285 | DNAH5 | c.11656G>A (p.Gly3886Arg) c.11611G>A (p.Gly3871Arg) c.11764G>A (p.Gly3922Arg) c.10669G>A (p.Gly3557Arg) c.*90G>A (n.*90G>A) c.6853G>A (p.Gly2285Arg) c.6406G>A (p.Gly2136Arg) c.5743G>A (p.Gly1915Arg) c.10258G>A (p.Gly3420Arg) | gnomAD v4 |
5 | g.13735237T>A | CA443260031 | DNAH5 | c.11655A>T (p.Arg3885=) c.11610A>T (p.Arg3870=) c.11763A>T (p.Arg3921=) c.10668A>T (p.Arg3556=) c.*89A>T (n.*89A>T) c.6852A>T (p.Arg2284=) c.6405A>T (p.Arg2135=) c.5742A>T (p.Arg1914=) c.10257A>T (p.Arg3419=) | |
5 | g.13735237T>C | CA443260032 | DNAH5 | c.11655A>G (p.Arg3885=) c.11610A>G (p.Arg3870=) c.11763A>G (p.Arg3921=) c.10668A>G (p.Arg3556=) c.*89A>G (n.*89A>G) c.6852A>G (p.Arg2284=) c.6405A>G (p.Arg2135=) c.5742A>G (p.Arg1914=) c.10257A>G (p.Arg3419=) | |
5 | g.13735237T>G | CA443260033 | DNAH5 | c.11655A>C (p.Arg3885=) c.11610A>C (p.Arg3870=) c.11763A>C (p.Arg3921=) c.10668A>C (p.Arg3556=) c.*89A>C (n.*89A>C) c.6852A>C (p.Arg2284=) c.6405A>C (p.Arg2135=) c.5742A>C (p.Arg1914=) c.10257A>C (p.Arg3419=) | |
5 | g.13735238C>A | CA359223296 | DNAH5 | c.11654G>T (p.Arg3885Leu) c.11609G>T (p.Arg3870Leu) c.11762G>T (p.Arg3921Leu) c.10667G>T (p.Arg3556Leu) c.*88G>T (n.*88G>T) c.6851G>T (p.Arg2284Leu) c.6404G>T (p.Arg2135Leu) c.5741G>T (p.Arg1914Leu) c.10256G>T (p.Arg3419Leu) | |
5 | g.13735238C= | CA1528414844 | DNAH5 | c.11654G= (p.Arg3885=) c.11609G= (p.Arg3870=) c.11762G= (p.Arg3921=) c.10667G= (p.Arg3556=) c.*88G= (n.*88G=) c.6851G= (p.Arg2284=) c.6404G= (p.Arg2135=) c.5741G= (p.Arg1914=) c.10256G= (p.Arg3419=) | |
5 | g.13735238C>G | CA3201880 | DNAH5 | c.11654G>C (p.Arg3885Pro) c.11609G>C (p.Arg3870Pro) c.11762G>C (p.Arg3921Pro) c.10667G>C (p.Arg3556Pro) c.*88G>C (n.*88G>C) c.6851G>C (p.Arg2284Pro) c.6404G>C (p.Arg2135Pro) c.5741G>C (p.Arg1914Pro) c.10256G>C (p.Arg3419Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13735238C>T | CA3201879 | DNAH5 | c.11654G>A (p.Arg3885Gln) c.11609G>A (p.Arg3870Gln) c.11762G>A (p.Arg3921Gln) c.10667G>A (p.Arg3556Gln) c.*88G>A (n.*88G>A) c.6851G>A (p.Arg2284Gln) c.6404G>A (p.Arg2135Gln) c.5741G>A (p.Arg1914Gln) c.10256G>A (p.Arg3419Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735239G>A | CA3201881 | DNAH5 | c.11653C>T (p.Arg3885Ter) c.11608C>T (p.Arg3870Ter) c.11761C>T (p.Arg3921Ter) c.10666C>T (p.Arg3556Ter) c.*87C>T (n.*87C>T) c.6850C>T (p.Arg2284Ter) c.6403C>T (p.Arg2135Ter) c.5740C>T (p.Arg1914Ter) c.10255C>T (p.Arg3419Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735239G>C | CA359223315 | DNAH5 | c.11653C>G (p.Arg3885Gly) c.11608C>G (p.Arg3870Gly) c.11761C>G (p.Arg3921Gly) c.10666C>G (p.Arg3556Gly) c.*87C>G (n.*87C>G) c.6850C>G (p.Arg2284Gly) c.6403C>G (p.Arg2135Gly) c.5740C>G (p.Arg1914Gly) c.10255C>G (p.Arg3419Gly) | |
5 | g.13735239G= | CA1528414845 | DNAH5 | c.11653C= (p.Arg3885=) c.11608C= (p.Arg3870=) c.11761C= (p.Arg3921=) c.10666C= (p.Arg3556=) c.*87C= (n.*87C=) c.6850C= (p.Arg2284=) c.6403C= (p.Arg2135=) c.5740C= (p.Arg1914=) c.10255C= (p.Arg3419=) | |
5 | g.13735239G>T | CA443260034 | DNAH5 | c.11653C>A (p.Arg3885=) c.11608C>A (p.Arg3870=) c.11761C>A (p.Arg3921=) c.10666C>A (p.Arg3556=) c.*87C>A (n.*87C>A) c.6850C>A (p.Arg2284=) c.6403C>A (p.Arg2135=) c.5740C>A (p.Arg1914=) c.10255C>A (p.Arg3419=) | |
5 | g.13735240G>A | CA443260037 | DNAH5 | c.11652C>T (p.Ala3884=) c.11607C>T (p.Ala3869=) c.11760C>T (p.Ala3920=) c.10665C>T (p.Ala3555=) c.*86C>T (n.*86C>T) c.6849C>T (p.Ala2283=) c.6402C>T (p.Ala2134=) c.5739C>T (p.Ala1913=) c.10254C>T (p.Ala3418=) | COSMIC |
5 | g.13735240G>C | CA443260035 | DNAH5 | c.11652C>G (p.Ala3884=) c.11607C>G (p.Ala3869=) c.11760C>G (p.Ala3920=) c.10665C>G (p.Ala3555=) c.*86C>G (n.*86C>G) c.6849C>G (p.Ala2283=) c.6402C>G (p.Ala2134=) c.5739C>G (p.Ala1913=) c.10254C>G (p.Ala3418=) | |
5 | g.13735240G= | CA1528414846 | DNAH5 | c.11652C= (p.Ala3884=) c.11607C= (p.Ala3869=) c.11760C= (p.Ala3920=) c.10665C= (p.Ala3555=) c.*86C= (n.*86C=) c.6849C= (p.Ala2283=) c.6402C= (p.Ala2134=) c.5739C= (p.Ala1913=) c.10254C= (p.Ala3418=) | |
5 | g.13735240G>T | CA443260036 | DNAH5 | c.11652C>A (p.Ala3884=) c.11607C>A (p.Ala3869=) c.11760C>A (p.Ala3920=) c.10665C>A (p.Ala3555=) c.*86C>A (n.*86C>A) c.6849C>A (p.Ala2283=) c.6402C>A (p.Ala2134=) c.5739C>A (p.Ala1913=) c.10254C>A (p.Ala3418=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13735241G>A | CA359223324 | DNAH5 | c.11651C>T (p.Ala3884Val) c.11606C>T (p.Ala3869Val) c.11759C>T (p.Ala3920Val) c.10664C>T (p.Ala3555Val) c.*85C>T (n.*85C>T) c.6848C>T (p.Ala2283Val) c.6401C>T (p.Ala2134Val) c.5738C>T (p.Ala1913Val) c.10253C>T (p.Ala3418Val) | |
5 | g.13735241G>C | CA359223322 | DNAH5 | c.11651C>G (p.Ala3884Gly) c.11606C>G (p.Ala3869Gly) c.11759C>G (p.Ala3920Gly) c.10664C>G (p.Ala3555Gly) c.*85C>G (n.*85C>G) c.6848C>G (p.Ala2283Gly) c.6401C>G (p.Ala2134Gly) c.5738C>G (p.Ala1913Gly) c.10253C>G (p.Ala3418Gly) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13735241G= | CA1528414847 | DNAH5 | c.11651C= (p.Ala3884=) c.11606C= (p.Ala3869=) c.11759C= (p.Ala3920=) c.10664C= (p.Ala3555=) c.*85C= (n.*85C=) c.6848C= (p.Ala2283=) c.6401C= (p.Ala2134=) c.5738C= (p.Ala1913=) c.10253C= (p.Ala3418=) | |
5 | g.13735241G>T | CA359223319 | DNAH5 | c.11651C>A (p.Ala3884Asp) c.11606C>A (p.Ala3869Asp) c.11759C>A (p.Ala3920Asp) c.10664C>A (p.Ala3555Asp) c.*85C>A (n.*85C>A) c.6848C>A (p.Ala2283Asp) c.6401C>A (p.Ala2134Asp) c.5738C>A (p.Ala1913Asp) c.10253C>A (p.Ala3418Asp) | |
5 | g.13735242C>A | CA359223328 | DNAH5 | c.11650G>T (p.Ala3884Ser) c.11605G>T (p.Ala3869Ser) c.11758G>T (p.Ala3920Ser) c.10663G>T (p.Ala3555Ser) c.*84G>T (n.*84G>T) c.6847G>T (p.Ala2283Ser) c.6400G>T (p.Ala2134Ser) c.5737G>T (p.Ala1913Ser) c.10252G>T (p.Ala3418Ser) | |
5 | g.13735242C>G | CA359223329 | DNAH5 | c.11650G>C (p.Ala3884Pro) c.11605G>C (p.Ala3869Pro) c.11758G>C (p.Ala3920Pro) c.10663G>C (p.Ala3555Pro) c.*84G>C (n.*84G>C) c.6847G>C (p.Ala2283Pro) c.6400G>C (p.Ala2134Pro) c.5737G>C (p.Ala1913Pro) c.10252G>C (p.Ala3418Pro) | |
5 | g.13735242C>T | CA359223330 | DNAH5 | c.11650G>A (p.Ala3884Thr) c.11605G>A (p.Ala3869Thr) c.11758G>A (p.Ala3920Thr) c.10663G>A (p.Ala3555Thr) c.*84G>A (n.*84G>A) c.6847G>A (p.Ala2283Thr) c.6400G>A (p.Ala2134Thr) c.5737G>A (p.Ala1913Thr) c.10252G>A (p.Ala3418Thr) | |
5 | g.13735243A>C | CA443260038 | DNAH5 | c.11649T>G (p.Ala3883=) c.11604T>G (p.Ala3868=) c.11757T>G (p.Ala3919=) c.10662T>G (p.Ala3554=) c.*83T>G (n.*83T>G) c.6846T>G (p.Ala2282=) c.6399T>G (p.Ala2133=) c.5736T>G (p.Ala1912=) c.10251T>G (p.Ala3417=) | |
5 | g.13735243A>G | CA443260039 | DNAH5 | c.11649T>C (p.Ala3883=) c.11604T>C (p.Ala3868=) c.11757T>C (p.Ala3919=) c.10662T>C (p.Ala3554=) c.*83T>C (n.*83T>C) c.6846T>C (p.Ala2282=) c.6399T>C (p.Ala2133=) c.5736T>C (p.Ala1912=) c.10251T>C (p.Ala3417=) | |
5 | g.13735243A>T | CA443260040 | DNAH5 | c.11649T>A (p.Ala3883=) c.11604T>A (p.Ala3868=) c.11757T>A (p.Ala3919=) c.10662T>A (p.Ala3554=) c.*83T>A (n.*83T>A) c.6846T>A (p.Ala2282=) c.6399T>A (p.Ala2133=) c.5736T>A (p.Ala1912=) c.10251T>A (p.Ala3417=) | |
5 | g.13735244G>A | CA359223332 | DNAH5 | c.11648C>T (p.Ala3883Val) c.11603C>T (p.Ala3868Val) c.11756C>T (p.Ala3919Val) c.10661C>T (p.Ala3554Val) c.*82C>T (n.*82C>T) c.6845C>T (p.Ala2282Val) c.6398C>T (p.Ala2133Val) c.5735C>T (p.Ala1912Val) c.10250C>T (p.Ala3417Val) | gnomAD v4 |
5 | g.13735244G>C | CA359223334 | DNAH5 | c.11648C>G (p.Ala3883Gly) c.11603C>G (p.Ala3868Gly) c.11756C>G (p.Ala3919Gly) c.10661C>G (p.Ala3554Gly) c.*82C>G (n.*82C>G) c.6845C>G (p.Ala2282Gly) c.6398C>G (p.Ala2133Gly) c.5735C>G (p.Ala1912Gly) c.10250C>G (p.Ala3417Gly) | |
5 | g.13735244G>T | CA359223339 | DNAH5 | c.11648C>A (p.Ala3883Asp) c.11603C>A (p.Ala3868Asp) c.11756C>A (p.Ala3919Asp) c.10661C>A (p.Ala3554Asp) c.*82C>A (n.*82C>A) c.6845C>A (p.Ala2282Asp) c.6398C>A (p.Ala2133Asp) c.5735C>A (p.Ala1912Asp) c.10250C>A (p.Ala3417Asp) | |
5 | g.13735245C>A | CA359223359 | DNAH5 | c.11647G>T (p.Ala3883Ser) c.11602G>T (p.Ala3868Ser) c.11755G>T (p.Ala3919Ser) c.10660G>T (p.Ala3554Ser) c.*81G>T (n.*81G>T) c.6844G>T (p.Ala2282Ser) c.6397G>T (p.Ala2133Ser) c.5734G>T (p.Ala1912Ser) c.10249G>T (p.Ala3417Ser) | |
5 | g.13735245C>G | CA359223357 | DNAH5 | c.11647G>C (p.Ala3883Pro) c.11602G>C (p.Ala3868Pro) c.11755G>C (p.Ala3919Pro) c.10660G>C (p.Ala3554Pro) c.*81G>C (n.*81G>C) c.6844G>C (p.Ala2282Pro) c.6397G>C (p.Ala2133Pro) c.5734G>C (p.Ala1912Pro) c.10249G>C (p.Ala3417Pro) | |
5 | g.13735245C>T | CA359223350 | DNAH5 | c.11647G>A (p.Ala3883Thr) c.11602G>A (p.Ala3868Thr) c.11755G>A (p.Ala3919Thr) c.10660G>A (p.Ala3554Thr) c.*81G>A (n.*81G>A) c.6844G>A (p.Ala2282Thr) c.6397G>A (p.Ala2133Thr) c.5734G>A (p.Ala1912Thr) c.10249G>A (p.Ala3417Thr) | |
5 | g.13735246A= | CA1528414848 | DNAH5 | c.11646T= (p.Tyr3882=) c.11601T= (p.Tyr3867=) c.11754T= (p.Tyr3918=) c.10659T= (p.Tyr3553=) c.*80T= (n.*80T=) c.6843T= (p.Tyr2281=) c.6396T= (p.Tyr2132=) c.5733T= (p.Tyr1911=) c.10248T= (p.Tyr3416=) | |
5 | g.13735246A>C | CA359223364 | DNAH5 | c.11646T>G (p.Tyr3882Ter) c.11601T>G (p.Tyr3867Ter) c.11754T>G (p.Tyr3918Ter) c.10659T>G (p.Tyr3553Ter) c.*80T>G (n.*80T>G) c.6843T>G (p.Tyr2281Ter) c.6396T>G (p.Tyr2132Ter) c.5733T>G (p.Tyr1911Ter) c.10248T>G (p.Tyr3416Ter) | |
5 | g.13735246A>G | CA113926976 | DNAH5 | c.11646T>C (p.Tyr3882=) c.11601T>C (p.Tyr3867=) c.11754T>C (p.Tyr3918=) c.10659T>C (p.Tyr3553=) c.*80T>C (n.*80T>C) c.6843T>C (p.Tyr2281=) c.6396T>C (p.Tyr2132=) c.5733T>C (p.Tyr1911=) c.10248T>C (p.Tyr3416=) | dbSNP |
5 | g.13735246A>T | CA359223370 | DNAH5 | c.11646T>A (p.Tyr3882Ter) c.11601T>A (p.Tyr3867Ter) c.11754T>A (p.Tyr3918Ter) c.10659T>A (p.Tyr3553Ter) c.*80T>A (n.*80T>A) c.6843T>A (p.Tyr2281Ter) c.6396T>A (p.Tyr2132Ter) c.5733T>A (p.Tyr1911Ter) c.10248T>A (p.Tyr3416Ter) | |
5 | g.13735247T>A | CA359223372 | DNAH5 | c.11645A>T (p.Tyr3882Phe) c.11600A>T (p.Tyr3867Phe) c.11753A>T (p.Tyr3918Phe) c.10658A>T (p.Tyr3553Phe) c.*79A>T (n.*79A>T) c.6842A>T (p.Tyr2281Phe) c.6395A>T (p.Tyr2132Phe) c.5732A>T (p.Tyr1911Phe) c.10247A>T (p.Tyr3416Phe) | |
5 | g.13735247T>C | CA3201882 | DNAH5 | c.11645A>G (p.Tyr3882Cys) c.11600A>G (p.Tyr3867Cys) c.11753A>G (p.Tyr3918Cys) c.10658A>G (p.Tyr3553Cys) c.*79A>G (n.*79A>G) c.6842A>G (p.Tyr2281Cys) c.6395A>G (p.Tyr2132Cys) c.5732A>G (p.Tyr1911Cys) c.10247A>G (p.Tyr3416Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735247T>G | CA359223374 | DNAH5 | c.11645A>C (p.Tyr3882Ser) c.11600A>C (p.Tyr3867Ser) c.11753A>C (p.Tyr3918Ser) c.10658A>C (p.Tyr3553Ser) c.*79A>C (n.*79A>C) c.6842A>C (p.Tyr2281Ser) c.6395A>C (p.Tyr2132Ser) c.5732A>C (p.Tyr1911Ser) c.10247A>C (p.Tyr3416Ser) | |
5 | g.13735247T= | CA1528414849 | DNAH5 | c.11645A= (p.Tyr3882=) c.11600A= (p.Tyr3867=) c.11753A= (p.Tyr3918=) c.10658A= (p.Tyr3553=) c.*79A= (n.*79A=) c.6842A= (p.Tyr2281=) c.6395A= (p.Tyr2132=) c.5732A= (p.Tyr1911=) c.10247A= (p.Tyr3416=) | |
5 | g.13735248A>C | CA359223382 | DNAH5 | c.11644T>G (p.Tyr3882Asp) c.11599T>G (p.Tyr3867Asp) c.11752T>G (p.Tyr3918Asp) c.10657T>G (p.Tyr3553Asp) c.*78T>G (n.*78T>G) c.6841T>G (p.Tyr2281Asp) c.6394T>G (p.Tyr2132Asp) c.5731T>G (p.Tyr1911Asp) c.10246T>G (p.Tyr3416Asp) | |
5 | g.13735248A>G | CA359223383 | DNAH5 | c.11644T>C (p.Tyr3882His) c.11599T>C (p.Tyr3867His) c.11752T>C (p.Tyr3918His) c.10657T>C (p.Tyr3553His) c.*78T>C (n.*78T>C) c.6841T>C (p.Tyr2281His) c.6394T>C (p.Tyr2132His) c.5731T>C (p.Tyr1911His) c.10246T>C (p.Tyr3416His) | |
5 | g.13735248A>T | CA359223384 | DNAH5 | c.11644T>A (p.Tyr3882Asn) c.11599T>A (p.Tyr3867Asn) c.11752T>A (p.Tyr3918Asn) c.10657T>A (p.Tyr3553Asn) c.*78T>A (n.*78T>A) c.6841T>A (p.Tyr2281Asn) c.6394T>A (p.Tyr2132Asn) c.5731T>A (p.Tyr1911Asn) c.10246T>A (p.Tyr3416Asn) | |
5 | g.13735249C>A | CA359223386 | DNAH5 | c.11643G>T (p.Lys3881Asn) c.11598G>T (p.Lys3866Asn) c.11751G>T (p.Lys3917Asn) c.10656G>T (p.Lys3552Asn) c.*77G>T (n.*77G>T) c.6840G>T (p.Lys2280Asn) c.6393G>T (p.Lys2131Asn) c.5730G>T (p.Lys1910Asn) c.10245G>T (p.Lys3415Asn) | |
5 | g.13735249C= | CA1528414850 | DNAH5 | c.11643G= (p.Lys3881=) c.11598G= (p.Lys3866=) c.11751G= (p.Lys3917=) c.10656G= (p.Lys3552=) c.*77G= (n.*77G=) c.6840G= (p.Lys2280=) c.6393G= (p.Lys2131=) c.5730G= (p.Lys1910=) c.10245G= (p.Lys3415=) | |
5 | g.13735249C>G | CA359223388 | DNAH5 | c.11643G>C (p.Lys3881Asn) c.11598G>C (p.Lys3866Asn) c.11751G>C (p.Lys3917Asn) c.10656G>C (p.Lys3552Asn) c.*77G>C (n.*77G>C) c.6840G>C (p.Lys2280Asn) c.6393G>C (p.Lys2131Asn) c.5730G>C (p.Lys1910Asn) c.10245G>C (p.Lys3415Asn) | |
5 | g.13735249C>T | CA443260042 | DNAH5 | c.11643G>A (p.Lys3881=) c.11598G>A (p.Lys3866=) c.11751G>A (p.Lys3917=) c.10656G>A (p.Lys3552=) c.*77G>A (n.*77G>A) c.6840G>A (p.Lys2280=) c.6393G>A (p.Lys2131=) c.5730G>A (p.Lys1910=) c.10245G>A (p.Lys3415=) | dbSNP |
5 | g.13735250T>A | CA359223393 | DNAH5 | c.11642A>T (p.Lys3881Met) c.11597A>T (p.Lys3866Met) c.11750A>T (p.Lys3917Met) c.10655A>T (p.Lys3552Met) c.*76A>T (n.*76A>T) c.6839A>T (p.Lys2280Met) c.6392A>T (p.Lys2131Met) c.5729A>T (p.Lys1910Met) c.10244A>T (p.Lys3415Met) | |
5 | g.13735250T>C | CA359223395 | DNAH5 | c.11642A>G (p.Lys3881Arg) c.11597A>G (p.Lys3866Arg) c.11750A>G (p.Lys3917Arg) c.10655A>G (p.Lys3552Arg) c.*76A>G (n.*76A>G) c.6839A>G (p.Lys2280Arg) c.6392A>G (p.Lys2131Arg) c.5729A>G (p.Lys1910Arg) c.10244A>G (p.Lys3415Arg) | |
5 | g.13735250T>G | CA359223396 | DNAH5 | c.11642A>C (p.Lys3881Thr) c.11597A>C (p.Lys3866Thr) c.11750A>C (p.Lys3917Thr) c.10655A>C (p.Lys3552Thr) c.*76A>C (n.*76A>C) c.6839A>C (p.Lys2280Thr) c.6392A>C (p.Lys2131Thr) c.5729A>C (p.Lys1910Thr) c.10244A>C (p.Lys3415Thr) | |
5 | g.13735251T>A | CA359223397 | DNAH5 | c.11641A>T (p.Lys3881Ter) c.11596A>T (p.Lys3866Ter) c.11749A>T (p.Lys3917Ter) c.10654A>T (p.Lys3552Ter) c.*75A>T (n.*75A>T) c.6838A>T (p.Lys2280Ter) c.6391A>T (p.Lys2131Ter) c.5728A>T (p.Lys1910Ter) c.10243A>T (p.Lys3415Ter) | |
5 | g.13735251T>C | CA359223400 | DNAH5 | c.11641A>G (p.Lys3881Glu) c.11596A>G (p.Lys3866Glu) c.11749A>G (p.Lys3917Glu) c.10654A>G (p.Lys3552Glu) c.*75A>G (n.*75A>G) c.6838A>G (p.Lys2280Glu) c.6391A>G (p.Lys2131Glu) c.5728A>G (p.Lys1910Glu) c.10243A>G (p.Lys3415Glu) | |
5 | g.13735251T>G | CA359223402 | DNAH5 | c.11641A>C (p.Lys3881Gln) c.11596A>C (p.Lys3866Gln) c.11749A>C (p.Lys3917Gln) c.10654A>C (p.Lys3552Gln) c.*75A>C (n.*75A>C) c.6838A>C (p.Lys2280Gln) c.6391A>C (p.Lys2131Gln) c.5728A>C (p.Lys1910Gln) c.10243A>C (p.Lys3415Gln) | |
5 | g.13735252A>C | CA359223407 | DNAH5 | c.11640T>G (p.Tyr3880Ter) c.11595T>G (p.Tyr3865Ter) c.11748T>G (p.Tyr3916Ter) c.10653T>G (p.Tyr3551Ter) c.*74T>G (n.*74T>G) c.6837T>G (p.Tyr2279Ter) c.6390T>G (p.Tyr2130Ter) c.5727T>G (p.Tyr1909Ter) c.10242T>G (p.Tyr3414Ter) | |
5 | g.13735252A>G | CA443260043 | DNAH5 | c.11640T>C (p.Tyr3880=) c.11595T>C (p.Tyr3865=) c.11748T>C (p.Tyr3916=) c.10653T>C (p.Tyr3551=) c.*74T>C (n.*74T>C) c.6837T>C (p.Tyr2279=) c.6390T>C (p.Tyr2130=) c.5727T>C (p.Tyr1909=) c.10242T>C (p.Tyr3414=) | |
5 | g.13735252A>T | CA359223403 | DNAH5 | c.11640T>A (p.Tyr3880Ter) c.11595T>A (p.Tyr3865Ter) c.11748T>A (p.Tyr3916Ter) c.10653T>A (p.Tyr3551Ter) c.*74T>A (n.*74T>A) c.6837T>A (p.Tyr2279Ter) c.6390T>A (p.Tyr2130Ter) c.5727T>A (p.Tyr1909Ter) c.10242T>A (p.Tyr3414Ter) | |
5 | g.13735253T>A | CA359223409 | DNAH5 | c.11639A>T (p.Tyr3880Phe) c.11594A>T (p.Tyr3865Phe) c.11747A>T (p.Tyr3916Phe) c.10652A>T (p.Tyr3551Phe) c.*73A>T (n.*73A>T) c.6836A>T (p.Tyr2279Phe) c.6389A>T (p.Tyr2130Phe) c.5726A>T (p.Tyr1909Phe) c.10241A>T (p.Tyr3414Phe) | |
5 | g.13735253T>C | CA3201883 | DNAH5 | c.11639A>G (p.Tyr3880Cys) c.11594A>G (p.Tyr3865Cys) c.11747A>G (p.Tyr3916Cys) c.10652A>G (p.Tyr3551Cys) c.*73A>G (n.*73A>G) c.6836A>G (p.Tyr2279Cys) c.6389A>G (p.Tyr2130Cys) c.5726A>G (p.Tyr1909Cys) c.10241A>G (p.Tyr3414Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13735253T>G | CA3201884 | DNAH5 | c.11639A>C (p.Tyr3880Ser) c.11594A>C (p.Tyr3865Ser) c.11747A>C (p.Tyr3916Ser) c.10652A>C (p.Tyr3551Ser) c.*73A>C (n.*73A>C) c.6836A>C (p.Tyr2279Ser) c.6389A>C (p.Tyr2130Ser) c.5726A>C (p.Tyr1909Ser) c.10241A>C (p.Tyr3414Ser) | dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.13735253T= | CA1528414851 | DNAH5 | c.11639A= (p.Tyr3880=) c.11594A= (p.Tyr3865=) c.11747A= (p.Tyr3916=) c.10652A= (p.Tyr3551=) c.*73A= (n.*73A=) c.6836A= (p.Tyr2279=) c.6389A= (p.Tyr2130=) c.5726A= (p.Tyr1909=) c.10241A= (p.Tyr3414=) | |
5 | g.13735254A= | CA1528414852 | DNAH5 | c.11638T= (p.Tyr3880=) c.11593T= (p.Tyr3865=) c.11746T= (p.Tyr3916=) c.10651T= (p.Tyr3551=) c.*72T= (n.*72T=) c.6835T= (p.Tyr2279=) c.6388T= (p.Tyr2130=) c.5725T= (p.Tyr1909=) c.10240T= (p.Tyr3414=) | |
5 | g.13735254A>C | CA3201885 | DNAH5 | c.11638T>G (p.Tyr3880Asp) c.11593T>G (p.Tyr3865Asp) c.11746T>G (p.Tyr3916Asp) c.10651T>G (p.Tyr3551Asp) c.*72T>G (n.*72T>G) c.6835T>G (p.Tyr2279Asp) c.6388T>G (p.Tyr2130Asp) c.5725T>G (p.Tyr1909Asp) c.10240T>G (p.Tyr3414Asp) | dbSNP ExAC |
5 | g.13735254A>G | CA359223410 | DNAH5 | c.11638T>C (p.Tyr3880His) c.11593T>C (p.Tyr3865His) c.11746T>C (p.Tyr3916His) c.10651T>C (p.Tyr3551His) c.*72T>C (n.*72T>C) c.6835T>C (p.Tyr2279His) c.6388T>C (p.Tyr2130His) c.5725T>C (p.Tyr1909His) c.10240T>C (p.Tyr3414His) | gnomAD v4 |
5 | g.13735254A>T | CA359223411 | DNAH5 | c.11638T>A (p.Tyr3880Asn) c.11593T>A (p.Tyr3865Asn) c.11746T>A (p.Tyr3916Asn) c.10651T>A (p.Tyr3551Asn) c.*72T>A (n.*72T>A) c.6835T>A (p.Tyr2279Asn) c.6388T>A (p.Tyr2130Asn) c.5725T>A (p.Tyr1909Asn) c.10240T>A (p.Tyr3414Asn) | |
5 | g.13735256del | CA2697547021 | DNAH5 | c.11638del (p.Tyr3880IlefsTer22) c.11593del (p.Tyr3865IlefsTer22) c.11746del (p.Tyr3916IlefsTer22) c.10651del (p.Tyr3551IlefsTer22) c.*72del (n.*72del) c.6835del (p.Tyr2279IlefsTer22) c.6388del (p.Tyr2130IlefsTer22) c.5725del (p.Tyr1909IlefsTer22) c.10240del (p.Tyr3414IlefsTer22) | ClinVar |
5 | g.13735255A>C | CA443260044 | DNAH5 | c.11637T>G (p.Val3879=) c.11592T>G (p.Val3864=) c.11745T>G (p.Val3915=) c.10650T>G (p.Val3550=) c.*71T>G (n.*71T>G) c.6834T>G (p.Val2278=) c.6387T>G (p.Val2129=) c.5724T>G (p.Val1908=) c.10239T>G (p.Val3413=) | |
5 | g.13735255A>G | CA443260045 | DNAH5 | c.11637T>C (p.Val3879=) c.11592T>C (p.Val3864=) c.11745T>C (p.Val3915=) c.10650T>C (p.Val3550=) c.*71T>C (n.*71T>C) c.6834T>C (p.Val2278=) c.6387T>C (p.Val2129=) c.5724T>C (p.Val1908=) c.10239T>C (p.Val3413=) | |
5 | g.13735255A>T | CA443260046 | DNAH5 | c.11637T>A (p.Val3879=) c.11592T>A (p.Val3864=) c.11745T>A (p.Val3915=) c.10650T>A (p.Val3550=) c.*71T>A (n.*71T>A) c.6834T>A (p.Val2278=) c.6387T>A (p.Val2129=) c.5724T>A (p.Val1908=) c.10239T>A (p.Val3413=) | |
5 | g.13735256A>C | CA359223412 | DNAH5 | c.11636T>G (p.Val3879Gly) c.11591T>G (p.Val3864Gly) c.11744T>G (p.Val3915Gly) c.10649T>G (p.Val3550Gly) c.*70T>G (n.*70T>G) c.6833T>G (p.Val2278Gly) c.6386T>G (p.Val2129Gly) c.5723T>G (p.Val1908Gly) c.10238T>G (p.Val3413Gly) | |
5 | g.13735256A>G | CA359223413 | DNAH5 | c.11636T>C (p.Val3879Ala) c.11591T>C (p.Val3864Ala) c.11744T>C (p.Val3915Ala) c.10649T>C (p.Val3550Ala) c.*70T>C (n.*70T>C) c.6833T>C (p.Val2278Ala) c.6386T>C (p.Val2129Ala) c.5723T>C (p.Val1908Ala) c.10238T>C (p.Val3413Ala) | |
5 | g.13735256A>T | CA359223414 | DNAH5 | c.11636T>A (p.Val3879Asp) c.11591T>A (p.Val3864Asp) c.11744T>A (p.Val3915Asp) c.10649T>A (p.Val3550Asp) c.*70T>A (n.*70T>A) c.6833T>A (p.Val2278Asp) c.6386T>A (p.Val2129Asp) c.5723T>A (p.Val1908Asp) c.10238T>A (p.Val3413Asp) | |
5 | g.13735257C>A | CA359223415 | DNAH5 | c.11635G>T (p.Val3879Phe) c.11590G>T (p.Val3864Phe) c.11743G>T (p.Val3915Phe) c.10648G>T (p.Val3550Phe) c.*69G>T (n.*69G>T) c.6832G>T (p.Val2278Phe) c.6385G>T (p.Val2129Phe) c.5722G>T (p.Val1908Phe) c.10237G>T (p.Val3413Phe) | |
5 | g.13735257C= | CA1528414853 | DNAH5 | c.11635G= (p.Val3879=) c.11590G= (p.Val3864=) c.11743G= (p.Val3915=) c.10648G= (p.Val3550=) c.*69G= (n.*69G=) c.6832G= (p.Val2278=) c.6385G= (p.Val2129=) c.5722G= (p.Val1908=) c.10237G= (p.Val3413=) | |
5 | g.13735257C>G | CA3201886 | DNAH5 | c.11635G>C (p.Val3879Leu) c.11590G>C (p.Val3864Leu) c.11743G>C (p.Val3915Leu) c.10648G>C (p.Val3550Leu) c.*69G>C (n.*69G>C) c.6832G>C (p.Val2278Leu) c.6385G>C (p.Val2129Leu) c.5722G>C (p.Val1908Leu) c.10237G>C (p.Val3413Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735257C>T | CA359223416 | DNAH5 | c.11635G>A (p.Val3879Ile) c.11590G>A (p.Val3864Ile) c.11743G>A (p.Val3915Ile) c.10648G>A (p.Val3550Ile) c.*69G>A (n.*69G>A) c.6832G>A (p.Val2278Ile) c.6385G>A (p.Val2129Ile) c.5722G>A (p.Val1908Ile) c.10237G>A (p.Val3413Ile) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13735258C>A | CA359223417 | DNAH5 | c.11634G>T (p.Glu3878Asp) c.11589G>T (p.Glu3863Asp) c.11742G>T (p.Glu3914Asp) c.10647G>T (p.Glu3549Asp) c.*68G>T (n.*68G>T) c.6831G>T (p.Glu2277Asp) c.6384G>T (p.Glu2128Asp) c.5721G>T (p.Glu1907Asp) c.10236G>T (p.Glu3412Asp) | |
5 | g.13735258C>G | CA359223418 | DNAH5 | c.11634G>C (p.Glu3878Asp) c.11589G>C (p.Glu3863Asp) c.11742G>C (p.Glu3914Asp) c.10647G>C (p.Glu3549Asp) c.*68G>C (n.*68G>C) c.6831G>C (p.Glu2277Asp) c.6384G>C (p.Glu2128Asp) c.5721G>C (p.Glu1907Asp) c.10236G>C (p.Glu3412Asp) | |
5 | g.13735258C>T | CA443260047 | DNAH5 | c.11634G>A (p.Glu3878=) c.11589G>A (p.Glu3863=) c.11742G>A (p.Glu3914=) c.10647G>A (p.Glu3549=) c.*68G>A (n.*68G>A) c.6831G>A (p.Glu2277=) c.6384G>A (p.Glu2128=) c.5721G>A (p.Glu1907=) c.10236G>A (p.Glu3412=) | ClinVar dbSNP |
5 | g.13735259T>A | CA359223419 | DNAH5 | c.11633A>T (p.Glu3878Val) c.11588A>T (p.Glu3863Val) c.11741A>T (p.Glu3914Val) c.10646A>T (p.Glu3549Val) c.*67A>T (n.*67A>T) c.6830A>T (p.Glu2277Val) c.6383A>T (p.Glu2128Val) c.5720A>T (p.Glu1907Val) c.10235A>T (p.Glu3412Val) | |
5 | g.13735259T>C | CA359223420 | DNAH5 | c.11633A>G (p.Glu3878Gly) c.11588A>G (p.Glu3863Gly) c.11741A>G (p.Glu3914Gly) c.10646A>G (p.Glu3549Gly) c.*67A>G (n.*67A>G) c.6830A>G (p.Glu2277Gly) c.6383A>G (p.Glu2128Gly) c.5720A>G (p.Glu1907Gly) c.10235A>G (p.Glu3412Gly) | |
5 | g.13735259T>G | CA359223421 | DNAH5 | c.11633A>C (p.Glu3878Ala) c.11588A>C (p.Glu3863Ala) c.11741A>C (p.Glu3914Ala) c.10646A>C (p.Glu3549Ala) c.*67A>C (n.*67A>C) c.6830A>C (p.Glu2277Ala) c.6383A>C (p.Glu2128Ala) c.5720A>C (p.Glu1907Ala) c.10235A>C (p.Glu3412Ala) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13735259T= | CA1528414854 | DNAH5 | c.11633A= (p.Glu3878=) c.11588A= (p.Glu3863=) c.11741A= (p.Glu3914=) c.10646A= (p.Glu3549=) c.*67A= (n.*67A=) c.6830A= (p.Glu2277=) c.6383A= (p.Glu2128=) c.5720A= (p.Glu1907=) c.10235A= (p.Glu3412=) | |
5 | g.13735260C>A | CA359223422 | DNAH5 | c.11632G>T (p.Glu3878Ter) c.11587G>T (p.Glu3863Ter) c.11740G>T (p.Glu3914Ter) c.10645G>T (p.Glu3549Ter) c.*66G>T (n.*66G>T) c.6829G>T (p.Glu2277Ter) c.6382G>T (p.Glu2128Ter) c.5719G>T (p.Glu1907Ter) c.10234G>T (p.Glu3412Ter) | |
5 | g.13735260C= | CA1528414855 | DNAH5 | c.11632G= (p.Glu3878=) c.11587G= (p.Glu3863=) c.11740G= (p.Glu3914=) c.10645G= (p.Glu3549=) c.*66G= (n.*66G=) c.6829G= (p.Glu2277=) c.6382G= (p.Glu2128=) c.5719G= (p.Glu1907=) c.10234G= (p.Glu3412=) | |
5 | g.13735260C>G | CA359223423 | DNAH5 | c.11632G>C (p.Glu3878Gln) c.11587G>C (p.Glu3863Gln) c.11740G>C (p.Glu3914Gln) c.10645G>C (p.Glu3549Gln) c.*66G>C (n.*66G>C) c.6829G>C (p.Glu2277Gln) c.6382G>C (p.Glu2128Gln) c.5719G>C (p.Glu1907Gln) c.10234G>C (p.Glu3412Gln) | gnomAD v4 |
5 | g.13735260C>T | CA3201887 | DNAH5 | c.11632G>A (p.Glu3878Lys) c.11587G>A (p.Glu3863Lys) c.11740G>A (p.Glu3914Lys) c.10645G>A (p.Glu3549Lys) c.*66G>A (n.*66G>A) c.6829G>A (p.Glu2277Lys) c.6382G>A (p.Glu2128Lys) c.5719G>A (p.Glu1907Lys) c.10234G>A (p.Glu3412Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735261G>A | CA3201888 | DNAH5 | c.11631C>T (p.Tyr3877=) c.11586C>T (p.Tyr3862=) c.11739C>T (p.Tyr3913=) c.10644C>T (p.Tyr3548=) c.*65C>T (n.*65C>T) c.6828C>T (p.Tyr2276=) c.6381C>T (p.Tyr2127=) c.5718C>T (p.Tyr1906=) c.10233C>T (p.Tyr3411=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735261G>C | CA359223424 | DNAH5 | c.11631C>G (p.Tyr3877Ter) c.11586C>G (p.Tyr3862Ter) c.11739C>G (p.Tyr3913Ter) c.10644C>G (p.Tyr3548Ter) c.*65C>G (n.*65C>G) c.6828C>G (p.Tyr2276Ter) c.6381C>G (p.Tyr2127Ter) c.5718C>G (p.Tyr1906Ter) c.10233C>G (p.Tyr3411Ter) | |
5 | g.13735261G= | CA1528414856 | DNAH5 | c.11631C= (p.Tyr3877=) c.11586C= (p.Tyr3862=) c.11739C= (p.Tyr3913=) c.10644C= (p.Tyr3548=) c.*65C= (n.*65C=) c.6828C= (p.Tyr2276=) c.6381C= (p.Tyr2127=) c.5718C= (p.Tyr1906=) c.10233C= (p.Tyr3411=) | |
5 | g.13735261G>T | CA359223425 | DNAH5 | c.11631C>A (p.Tyr3877Ter) c.11586C>A (p.Tyr3862Ter) c.11739C>A (p.Tyr3913Ter) c.10644C>A (p.Tyr3548Ter) c.*65C>A (n.*65C>A) c.6828C>A (p.Tyr2276Ter) c.6381C>A (p.Tyr2127Ter) c.5718C>A (p.Tyr1906Ter) c.10233C>A (p.Tyr3411Ter) | |
5 | g.13735262T>A | CA359223426 | DNAH5 | c.11630A>T (p.Tyr3877Phe) c.11585A>T (p.Tyr3862Phe) c.11738A>T (p.Tyr3913Phe) c.10643A>T (p.Tyr3548Phe) c.*64A>T (n.*64A>T) c.6827A>T (p.Tyr2276Phe) c.6380A>T (p.Tyr2127Phe) c.5717A>T (p.Tyr1906Phe) c.10232A>T (p.Tyr3411Phe) | |
5 | g.13735262T>C | CA359223427 | DNAH5 | c.11630A>G (p.Tyr3877Cys) c.11585A>G (p.Tyr3862Cys) c.11738A>G (p.Tyr3913Cys) c.10643A>G (p.Tyr3548Cys) c.*64A>G (n.*64A>G) c.6827A>G (p.Tyr2276Cys) c.6380A>G (p.Tyr2127Cys) c.5717A>G (p.Tyr1906Cys) c.10232A>G (p.Tyr3411Cys) | COSMIC |
5 | g.13735262T>G | CA359223428 | DNAH5 | c.11630A>C (p.Tyr3877Ser) c.11585A>C (p.Tyr3862Ser) c.11738A>C (p.Tyr3913Ser) c.10643A>C (p.Tyr3548Ser) c.*64A>C (n.*64A>C) c.6827A>C (p.Tyr2276Ser) c.6380A>C (p.Tyr2127Ser) c.5717A>C (p.Tyr1906Ser) c.10232A>C (p.Tyr3411Ser) | |
5 | g.13735263A>C | CA359223431 | DNAH5 | c.11629T>G (p.Tyr3877Asp) c.11584T>G (p.Tyr3862Asp) c.11737T>G (p.Tyr3913Asp) c.10642T>G (p.Tyr3548Asp) c.*63T>G (n.*63T>G) c.6826T>G (p.Tyr2276Asp) c.6379T>G (p.Tyr2127Asp) c.5716T>G (p.Tyr1906Asp) c.10231T>G (p.Tyr3411Asp) | |
5 | g.13735263A>G | CA359223429 | DNAH5 | c.11629T>C (p.Tyr3877His) c.11584T>C (p.Tyr3862His) c.11737T>C (p.Tyr3913His) c.10642T>C (p.Tyr3548His) c.*63T>C (n.*63T>C) c.6826T>C (p.Tyr2276His) c.6379T>C (p.Tyr2127His) c.5716T>C (p.Tyr1906His) c.10231T>C (p.Tyr3411His) | |
5 | g.13735263A>T | CA359223430 | DNAH5 | c.11629T>A (p.Tyr3877Asn) c.11584T>A (p.Tyr3862Asn) c.11737T>A (p.Tyr3913Asn) c.10642T>A (p.Tyr3548Asn) c.*63T>A (n.*63T>A) c.6826T>A (p.Tyr2276Asn) c.6379T>A (p.Tyr2127Asn) c.5716T>A (p.Tyr1906Asn) c.10231T>A (p.Tyr3411Asn) | |
5 | g.13735264G>A | CA443260049 | DNAH5 | c.11628C>T (p.Thr3876=) c.11583C>T (p.Thr3861=) c.11736C>T (p.Thr3912=) c.10641C>T (p.Thr3547=) c.*62C>T (n.*62C>T) c.6825C>T (p.Thr2275=) c.6378C>T (p.Thr2126=) c.5715C>T (p.Thr1905=) c.10230C>T (p.Thr3410=) | |
5 | g.13735264G>C | CA443260050 | DNAH5 | c.11628C>G (p.Thr3876=) c.11583C>G (p.Thr3861=) c.11736C>G (p.Thr3912=) c.10641C>G (p.Thr3547=) c.*62C>G (n.*62C>G) c.6825C>G (p.Thr2275=) c.6378C>G (p.Thr2126=) c.5715C>G (p.Thr1905=) c.10230C>G (p.Thr3410=) | |
5 | g.13735264G>T | CA443260051 | DNAH5 | c.11628C>A (p.Thr3876=) c.11583C>A (p.Thr3861=) c.11736C>A (p.Thr3912=) c.10641C>A (p.Thr3547=) c.*62C>A (n.*62C>A) c.6825C>A (p.Thr2275=) c.6378C>A (p.Thr2126=) c.5715C>A (p.Thr1905=) c.10230C>A (p.Thr3410=) | |
5 | g.13735265G>A | CA359223432 | DNAH5 | c.11627C>T (p.Thr3876Ile) c.11582C>T (p.Thr3861Ile) c.11735C>T (p.Thr3912Ile) c.10640C>T (p.Thr3547Ile) c.*61C>T (n.*61C>T) c.6824C>T (p.Thr2275Ile) c.6377C>T (p.Thr2126Ile) c.5714C>T (p.Thr1905Ile) c.10229C>T (p.Thr3410Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735265G>C | CA359223433 | DNAH5 | c.11627C>G (p.Thr3876Ser) c.11582C>G (p.Thr3861Ser) c.11735C>G (p.Thr3912Ser) c.10640C>G (p.Thr3547Ser) c.*61C>G (n.*61C>G) c.6824C>G (p.Thr2275Ser) c.6377C>G (p.Thr2126Ser) c.5714C>G (p.Thr1905Ser) c.10229C>G (p.Thr3410Ser) | |
5 | g.13735265G= | CA1528414857 | DNAH5 | c.11627C= (p.Thr3876=) c.11582C= (p.Thr3861=) c.11735C= (p.Thr3912=) c.10640C= (p.Thr3547=) c.*61C= (n.*61C=) c.6824C= (p.Thr2275=) c.6377C= (p.Thr2126=) c.5714C= (p.Thr1905=) c.10229C= (p.Thr3410=) | |
5 | g.13735265G>T | CA359223434 | DNAH5 | c.11627C>A (p.Thr3876Asn) c.11582C>A (p.Thr3861Asn) c.11735C>A (p.Thr3912Asn) c.10640C>A (p.Thr3547Asn) c.*61C>A (n.*61C>A) c.6824C>A (p.Thr2275Asn) c.6377C>A (p.Thr2126Asn) c.5714C>A (p.Thr1905Asn) c.10229C>A (p.Thr3410Asn) | |
5 | g.13735266T>A | CA359223435 | DNAH5 | c.11626A>T (p.Thr3876Ser) c.11581A>T (p.Thr3861Ser) c.11734A>T (p.Thr3912Ser) c.10639A>T (p.Thr3547Ser) c.*60A>T (n.*60A>T) c.6823A>T (p.Thr2275Ser) c.6376A>T (p.Thr2126Ser) c.5713A>T (p.Thr1905Ser) c.10228A>T (p.Thr3410Ser) | dbSNP |
5 | g.13735266T>C | CA359223436 | DNAH5 | c.11626A>G (p.Thr3876Ala) c.11581A>G (p.Thr3861Ala) c.11734A>G (p.Thr3912Ala) c.10639A>G (p.Thr3547Ala) c.*60A>G (n.*60A>G) c.6823A>G (p.Thr2275Ala) c.6376A>G (p.Thr2126Ala) c.5713A>G (p.Thr1905Ala) c.10228A>G (p.Thr3410Ala) | |
5 | g.13735266T>G | CA359223437 | DNAH5 | c.11626A>C (p.Thr3876Pro) c.11581A>C (p.Thr3861Pro) c.11734A>C (p.Thr3912Pro) c.10639A>C (p.Thr3547Pro) c.*60A>C (n.*60A>C) c.6823A>C (p.Thr2275Pro) c.6376A>C (p.Thr2126Pro) c.5713A>C (p.Thr1905Pro) c.10228A>C (p.Thr3410Pro) | COSMIC |
5 | g.13735266T= | CA1528414858 | DNAH5 | c.11626A= (p.Thr3876=) c.11581A= (p.Thr3861=) c.11734A= (p.Thr3912=) c.10639A= (p.Thr3547=) c.*60A= (n.*60A=) c.6823A= (p.Thr2275=) c.6376A= (p.Thr2126=) c.5713A= (p.Thr1905=) c.10228A= (p.Thr3410=) | |
5 | g.13735267C>A | CA3201889 | DNAH5 | c.11625G>T (p.Met3875Ile) c.11580G>T (p.Met3860Ile) c.11733G>T (p.Met3911Ile) c.10638G>T (p.Met3546Ile) c.*59G>T (n.*59G>T) c.6822G>T (p.Met2274Ile) c.6375G>T (p.Met2125Ile) c.5712G>T (p.Met1904Ile) c.10227G>T (p.Met3409Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735267C= | CA1528414859 | DNAH5 | c.11625G= (p.Met3875=) c.11580G= (p.Met3860=) c.11733G= (p.Met3911=) c.10638G= (p.Met3546=) c.*59G= (n.*59G=) c.6822G= (p.Met2274=) c.6375G= (p.Met2125=) c.5712G= (p.Met1904=) c.10227G= (p.Met3409=) | |
5 | g.13735267C>G | CA359223438 | DNAH5 | c.11625G>C (p.Met3875Ile) c.11580G>C (p.Met3860Ile) c.11733G>C (p.Met3911Ile) c.10638G>C (p.Met3546Ile) c.*59G>C (n.*59G>C) c.6822G>C (p.Met2274Ile) c.6375G>C (p.Met2125Ile) c.5712G>C (p.Met1904Ile) c.10227G>C (p.Met3409Ile) | |
5 | g.13735267C>T | CA113927004 | DNAH5 | c.11625G>A (p.Met3875Ile) c.11580G>A (p.Met3860Ile) c.11733G>A (p.Met3911Ile) c.10638G>A (p.Met3546Ile) c.*59G>A (n.*59G>A) c.6822G>A (p.Met2274Ile) c.6375G>A (p.Met2125Ile) c.5712G>A (p.Met1904Ile) c.10227G>A (p.Met3409Ile) | dbSNP |
5 | g.13735268A>C | CA359223439 | DNAH5 | c.11624T>G (p.Met3875Arg) c.11579T>G (p.Met3860Arg) c.11732T>G (p.Met3911Arg) c.10637T>G (p.Met3546Arg) c.*58T>G (n.*58T>G) c.6821T>G (p.Met2274Arg) c.6374T>G (p.Met2125Arg) c.5711T>G (p.Met1904Arg) c.10226T>G (p.Met3409Arg) | |
5 | g.13735268A>G | CA359223440 | DNAH5 | c.11624T>C (p.Met3875Thr) c.11579T>C (p.Met3860Thr) c.11732T>C (p.Met3911Thr) c.10637T>C (p.Met3546Thr) c.*58T>C (n.*58T>C) c.6821T>C (p.Met2274Thr) c.6374T>C (p.Met2125Thr) c.5711T>C (p.Met1904Thr) c.10226T>C (p.Met3409Thr) | gnomAD v4 |
5 | g.13735268A>T | CA359223441 | DNAH5 | c.11624T>A (p.Met3875Lys) c.11579T>A (p.Met3860Lys) c.11732T>A (p.Met3911Lys) c.10637T>A (p.Met3546Lys) c.*58T>A (n.*58T>A) c.6821T>A (p.Met2274Lys) c.6374T>A (p.Met2125Lys) c.5711T>A (p.Met1904Lys) c.10226T>A (p.Met3409Lys) | |
5 | g.13735269T>A | CA113927006 | DNAH5 | c.11623A>T (p.Met3875Leu) c.11578A>T (p.Met3860Leu) c.11731A>T (p.Met3911Leu) c.10636A>T (p.Met3546Leu) c.*57A>T (n.*57A>T) c.6820A>T (p.Met2274Leu) c.6373A>T (p.Met2125Leu) c.5710A>T (p.Met1904Leu) c.10225A>T (p.Met3409Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735269T>C | CA359223443 | DNAH5 | c.11623A>G (p.Met3875Val) c.11578A>G (p.Met3860Val) c.11731A>G (p.Met3911Val) c.10636A>G (p.Met3546Val) c.*57A>G (n.*57A>G) c.6820A>G (p.Met2274Val) c.6373A>G (p.Met2125Val) c.5710A>G (p.Met1904Val) c.10225A>G (p.Met3409Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13735269T>G | CA359223442 | DNAH5 | c.11623A>C (p.Met3875Leu) c.11578A>C (p.Met3860Leu) c.11731A>C (p.Met3911Leu) c.10636A>C (p.Met3546Leu) c.*57A>C (n.*57A>C) c.6820A>C (p.Met2274Leu) c.6373A>C (p.Met2125Leu) c.5710A>C (p.Met1904Leu) c.10225A>C (p.Met3409Leu) | |
5 | g.13735269T= | CA1528414860 | DNAH5 | c.11623A= (p.Met3875=) c.11578A= (p.Met3860=) c.11731A= (p.Met3911=) c.10636A= (p.Met3546=) c.*57A= (n.*57A=) c.6820A= (p.Met2274=) c.6373A= (p.Met2125=) c.5710A= (p.Met1904=) c.10225A= (p.Met3409=) | |
5 | g.13735270G>A | CA443260058 | DNAH5 | c.11622C>T (p.His3874=) c.11577C>T (p.His3859=) c.11730C>T (p.His3910=) c.10635C>T (p.His3545=) c.*56C>T (n.*56C>T) c.6819C>T (p.His2273=) c.6372C>T (p.His2124=) c.5709C>T (p.His1903=) c.10224C>T (p.His3408=) | ClinVar dbSNP gnomAD v4 |
5 | g.13735270G>C | CA359223445 | DNAH5 | c.11622C>G (p.His3874Gln) c.11577C>G (p.His3859Gln) c.11730C>G (p.His3910Gln) c.10635C>G (p.His3545Gln) c.*56C>G (n.*56C>G) c.6819C>G (p.His2273Gln) c.6372C>G (p.His2124Gln) c.5709C>G (p.His1903Gln) c.10224C>G (p.His3408Gln) | |
5 | g.13735270G>T | CA359223444 | DNAH5 | c.11622C>A (p.His3874Gln) c.11577C>A (p.His3859Gln) c.11730C>A (p.His3910Gln) c.10635C>A (p.His3545Gln) c.*56C>A (n.*56C>A) c.6819C>A (p.His2273Gln) c.6372C>A (p.His2124Gln) c.5709C>A (p.His1903Gln) c.10224C>A (p.His3408Gln) | |
5 | g.13735271T>A | CA359223447 | DNAH5 | c.11621A>T (p.His3874Leu) c.11576A>T (p.His3859Leu) c.11729A>T (p.His3910Leu) c.10634A>T (p.His3545Leu) c.*55A>T (n.*55A>T) c.6818A>T (p.His2273Leu) c.6371A>T (p.His2124Leu) c.5708A>T (p.His1903Leu) c.10223A>T (p.His3408Leu) | |
5 | g.13735271T>C | CA359223448 | DNAH5 | c.11621A>G (p.His3874Arg) c.11576A>G (p.His3859Arg) c.11729A>G (p.His3910Arg) c.10634A>G (p.His3545Arg) c.*55A>G (n.*55A>G) c.6818A>G (p.His2273Arg) c.6371A>G (p.His2124Arg) c.5708A>G (p.His1903Arg) c.10223A>G (p.His3408Arg) | |
5 | g.13735271T>G | CA359223452 | DNAH5 | c.11621A>C (p.His3874Pro) c.11576A>C (p.His3859Pro) c.11729A>C (p.His3910Pro) c.10634A>C (p.His3545Pro) c.*55A>C (n.*55A>C) c.6818A>C (p.His2273Pro) c.6371A>C (p.His2124Pro) c.5708A>C (p.His1903Pro) c.10223A>C (p.His3408Pro) | |
5 | g.13735272G>A | CA359223454 | DNAH5 | c.11620C>T (p.His3874Tyr) c.11575C>T (p.His3859Tyr) c.11728C>T (p.His3910Tyr) c.10633C>T (p.His3545Tyr) c.*54C>T (n.*54C>T) c.6817C>T (p.His2273Tyr) c.6370C>T (p.His2124Tyr) c.5707C>T (p.His1903Tyr) c.10222C>T (p.His3408Tyr) | |
5 | g.13735272G>C | CA359223459 | DNAH5 | c.11620C>G (p.His3874Asp) c.11575C>G (p.His3859Asp) c.11728C>G (p.His3910Asp) c.10633C>G (p.His3545Asp) c.*54C>G (n.*54C>G) c.6817C>G (p.His2273Asp) c.6370C>G (p.His2124Asp) c.5707C>G (p.His1903Asp) c.10222C>G (p.His3408Asp) | ClinVar gnomAD v4 |
5 | g.13735272G>T | CA359223461 | DNAH5 | c.11620C>A (p.His3874Asn) c.11575C>A (p.His3859Asn) c.11728C>A (p.His3910Asn) c.10633C>A (p.His3545Asn) c.*54C>A (n.*54C>A) c.6817C>A (p.His2273Asn) c.6370C>A (p.His2124Asn) c.5707C>A (p.His1903Asn) c.10222C>A (p.His3408Asn) | |
5 | g.13735273C>A | CA359223464 | DNAH5 | c.11619G>T (p.Glu3873Asp) c.11574G>T (p.Glu3858Asp) c.11727G>T (p.Glu3909Asp) c.10632G>T (p.Glu3544Asp) c.*53G>T (n.*53G>T) c.6816G>T (p.Glu2272Asp) c.6369G>T (p.Glu2123Asp) c.5706G>T (p.Glu1902Asp) c.10221G>T (p.Glu3407Asp) | |
5 | g.13735273C= | CA1528414861 | DNAH5 | c.11619G= (p.Glu3873=) c.11574G= (p.Glu3858=) c.11727G= (p.Glu3909=) c.10632G= (p.Glu3544=) c.*53G= (n.*53G=) c.6816G= (p.Glu2272=) c.6369G= (p.Glu2123=) c.5706G= (p.Glu1902=) c.10221G= (p.Glu3407=) | |
5 | g.13735273C>G | CA359223467 | DNAH5 | c.11619G>C (p.Glu3873Asp) c.11574G>C (p.Glu3858Asp) c.11727G>C (p.Glu3909Asp) c.10632G>C (p.Glu3544Asp) c.*53G>C (n.*53G>C) c.6816G>C (p.Glu2272Asp) c.6369G>C (p.Glu2123Asp) c.5706G>C (p.Glu1902Asp) c.10221G>C (p.Glu3407Asp) | |
5 | g.13735273C>T | CA443260062 | DNAH5 | c.11619G>A (p.Glu3873=) c.11574G>A (p.Glu3858=) c.11727G>A (p.Glu3909=) c.10632G>A (p.Glu3544=) c.*53G>A (n.*53G>A) c.6816G>A (p.Glu2272=) c.6369G>A (p.Glu2123=) c.5706G>A (p.Glu1902=) c.10221G>A (p.Glu3407=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735274T>A | CA359223469 | DNAH5 | c.11618A>T (p.Glu3873Val) c.11573A>T (p.Glu3858Val) c.11726A>T (p.Glu3909Val) c.10631A>T (p.Glu3544Val) c.*52A>T (n.*52A>T) c.6815A>T (p.Glu2272Val) c.6368A>T (p.Glu2123Val) c.5705A>T (p.Glu1902Val) c.10220A>T (p.Glu3407Val) | |
5 | g.13735274T>C | CA359223471 | DNAH5 | c.11618A>G (p.Glu3873Gly) c.11573A>G (p.Glu3858Gly) c.11726A>G (p.Glu3909Gly) c.10631A>G (p.Glu3544Gly) c.*52A>G (n.*52A>G) c.6815A>G (p.Glu2272Gly) c.6368A>G (p.Glu2123Gly) c.5705A>G (p.Glu1902Gly) c.10220A>G (p.Glu3407Gly) | gnomAD v4 |
5 | g.13735274T>G | CA359223473 | DNAH5 | c.11618A>C (p.Glu3873Ala) c.11573A>C (p.Glu3858Ala) c.11726A>C (p.Glu3909Ala) c.10631A>C (p.Glu3544Ala) c.*52A>C (n.*52A>C) c.6815A>C (p.Glu2272Ala) c.6368A>C (p.Glu2123Ala) c.5705A>C (p.Glu1902Ala) c.10220A>C (p.Glu3407Ala) | |
5 | g.13735275C>A | CA359223476 | DNAH5 | c.11617G>T (p.Glu3873Ter) c.11572G>T (p.Glu3858Ter) c.11725G>T (p.Glu3909Ter) c.10630G>T (p.Glu3544Ter) c.*51G>T (n.*51G>T) c.6814G>T (p.Glu2272Ter) c.6367G>T (p.Glu2123Ter) c.5704G>T (p.Glu1902Ter) c.10219G>T (p.Glu3407Ter) | |
5 | g.13735275C= | CA1528414862 | DNAH5 | c.11617G= (p.Glu3873=) c.11572G= (p.Glu3858=) c.11725G= (p.Glu3909=) c.10630G= (p.Glu3544=) c.*51G= (n.*51G=) c.6814G= (p.Glu2272=) c.6367G= (p.Glu2123=) c.5704G= (p.Glu1902=) c.10219G= (p.Glu3407=) | |
5 | g.13735275C>G | CA113927009 | DNAH5 | c.11617G>C (p.Glu3873Gln) c.11572G>C (p.Glu3858Gln) c.11725G>C (p.Glu3909Gln) c.10630G>C (p.Glu3544Gln) c.*51G>C (n.*51G>C) c.6814G>C (p.Glu2272Gln) c.6367G>C (p.Glu2123Gln) c.5704G>C (p.Glu1902Gln) c.10219G>C (p.Glu3407Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735275C>T | CA3201890 | DNAH5 | c.11617G>A (p.Glu3873Lys) c.11572G>A (p.Glu3858Lys) c.11725G>A (p.Glu3909Lys) c.10630G>A (p.Glu3544Lys) c.*51G>A (n.*51G>A) c.6814G>A (p.Glu2272Lys) c.6367G>A (p.Glu2123Lys) c.5704G>A (p.Glu1902Lys) c.10219G>A (p.Glu3407Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13735275_13735278delinsCGAT | CA1528414863 | DNAH5 | c.11614_11617delinsATCG (p.Ile3872=) c.11569_11572delinsATCG (p.Ile3857=) c.11722_11725delinsATCG (p.Ile3908=) c.10627_10630delinsATCG (p.Ile3543=) c.*48_*51delinsATCG (n.*48_*51delinsATCG) c.6811_6814delinsATCG (p.Ile2271=) c.6364_6367delinsATCG (p.Ile2122=) c.5701_5704delinsATCG (p.Ile1901=) c.10216_10219delinsATCG (p.Ile3406=) | |
5 | g.13735276G>A | CA3201892 | DNAH5 | c.11616C>T (p.Ile3872=) c.11571C>T (p.Ile3857=) c.11724C>T (p.Ile3908=) c.10629C>T (p.Ile3543=) c.*50C>T (n.*50C>T) c.6813C>T (p.Ile2271=) c.6366C>T (p.Ile2122=) c.5703C>T (p.Ile1901=) c.10218C>T (p.Ile3406=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
5 | g.13735276G>C | CA3201891 | DNAH5 | c.11616C>G (p.Ile3872Met) c.11571C>G (p.Ile3857Met) c.11724C>G (p.Ile3908Met) c.10629C>G (p.Ile3543Met) c.*50C>G (n.*50C>G) c.6813C>G (p.Ile2271Met) c.6366C>G (p.Ile2122Met) c.5703C>G (p.Ile1901Met) c.10218C>G (p.Ile3406Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735276G= | CA1528414864 | DNAH5 | c.11616C= (p.Ile3872=) c.11571C= (p.Ile3857=) c.11724C= (p.Ile3908=) c.10629C= (p.Ile3543=) c.*50C= (n.*50C=) c.6813C= (p.Ile2271=) c.6366C= (p.Ile2122=) c.5703C= (p.Ile1901=) c.10218C= (p.Ile3406=) | |
5 | g.13735276G>T | CA3201893 | DNAH5 | c.11616C>A (p.Ile3872=) c.11571C>A (p.Ile3857=) c.11724C>A (p.Ile3908=) c.10629C>A (p.Ile3543=) c.*50C>A (n.*50C>A) c.6813C>A (p.Ile2271=) c.6366C>A (p.Ile2122=) c.5703C>A (p.Ile1901=) c.10218C>A (p.Ile3406=) | ClinVar dbSNP ExAC gnomAD v2 |
5 | g.13735279_13735281del | CA557876489 | DNAH5 | c.11614_11616del (p.Ile3872del) c.11569_11571del (p.Ile3857del) c.11722_11724del (p.Ile3908del) c.10627_10629del (p.Ile3543del) c.*48_*50del (n.*48_*50del) c.6811_6813del (p.Ile2271del) c.6364_6366del (p.Ile2122del) c.5701_5703del (p.Ile1901del) c.10216_10218del (p.Ile3406del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735277A= | CA1528414865 | DNAH5 | c.11615T= (p.Ile3872=) c.11570T= (p.Ile3857=) c.11723T= (p.Ile3908=) c.10628T= (p.Ile3543=) c.*49T= (n.*49T=) c.6812T= (p.Ile2271=) c.6365T= (p.Ile2122=) c.5702T= (p.Ile1901=) c.10217T= (p.Ile3406=) | |
5 | g.13735277A>C | CA359223484 | DNAH5 | c.11615T>G (p.Ile3872Ser) c.11570T>G (p.Ile3857Ser) c.11723T>G (p.Ile3908Ser) c.10628T>G (p.Ile3543Ser) c.*49T>G (n.*49T>G) c.6812T>G (p.Ile2271Ser) c.6365T>G (p.Ile2122Ser) c.5702T>G (p.Ile1901Ser) c.10217T>G (p.Ile3406Ser) | |
5 | g.13735277A>G | CA3201894 | DNAH5 | c.11615T>C (p.Ile3872Thr) c.11570T>C (p.Ile3857Thr) c.11723T>C (p.Ile3908Thr) c.10628T>C (p.Ile3543Thr) c.*49T>C (n.*49T>C) c.6812T>C (p.Ile2271Thr) c.6365T>C (p.Ile2122Thr) c.5702T>C (p.Ile1901Thr) c.10217T>C (p.Ile3406Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735277A>T | CA359223485 | DNAH5 | c.11615T>A (p.Ile3872Asn) c.11570T>A (p.Ile3857Asn) c.11723T>A (p.Ile3908Asn) c.10628T>A (p.Ile3543Asn) c.*49T>A (n.*49T>A) c.6812T>A (p.Ile2271Asn) c.6365T>A (p.Ile2122Asn) c.5702T>A (p.Ile1901Asn) c.10217T>A (p.Ile3406Asn) | |
5 | g.13735278T>A | CA3201895 | DNAH5 | c.11614A>T (p.Ile3872Phe) c.11569A>T (p.Ile3857Phe) c.11722A>T (p.Ile3908Phe) c.10627A>T (p.Ile3543Phe) c.*48A>T (n.*48A>T) c.6811A>T (p.Ile2271Phe) c.6364A>T (p.Ile2122Phe) c.5701A>T (p.Ile1901Phe) c.10216A>T (p.Ile3406Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735278T>C | CA3201896 | DNAH5 | c.11614A>G (p.Ile3872Val) c.11569A>G (p.Ile3857Val) c.11722A>G (p.Ile3908Val) c.10627A>G (p.Ile3543Val) c.*48A>G (n.*48A>G) c.6811A>G (p.Ile2271Val) c.6364A>G (p.Ile2122Val) c.5701A>G (p.Ile1901Val) c.10216A>G (p.Ile3406Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13735278T>G | CA359223488 | DNAH5 | c.11614A>C (p.Ile3872Leu) c.11569A>C (p.Ile3857Leu) c.11722A>C (p.Ile3908Leu) c.10627A>C (p.Ile3543Leu) c.*48A>C (n.*48A>C) c.6811A>C (p.Ile2271Leu) c.6364A>C (p.Ile2122Leu) c.5701A>C (p.Ile1901Leu) c.10216A>C (p.Ile3406Leu) | |
5 | g.13735278T= | CA1528414866 | DNAH5 | c.11614A= (p.Ile3872=) c.11569A= (p.Ile3857=) c.11722A= (p.Ile3908=) c.10627A= (p.Ile3543=) c.*48A= (n.*48A=) c.6811A= (p.Ile2271=) c.6364A= (p.Ile2122=) c.5701A= (p.Ile1901=) c.10216A= (p.Ile3406=) | |
5 | g.13735278_13735279insTACAAGCAAGAG | CA2740617119 | DNAH5 | c.11613_11614insCTCTTGCTTGTA (p.Ile3871_Ile3872insLeuLeuLeuVal) c.11568_11569insCTCTTGCTTGTA (p.Ile3856_Ile3857insLeuLeuLeuVal) c.11721_11722insCTCTTGCTTGTA (p.Ile3907_Ile3908insLeuLeuLeuVal) c.10626_10627insCTCTTGCTTGTA (p.Ile3542_Ile3543insLeuLeuLeuVal) c.*47_*48insCTCTTGCTTGTA (n.*47_*48insCTCTTGCTTGTA) c.6810_6811insCTCTTGCTTGTA (p.Ile2270_Ile2271insLeuLeuLeuVal) c.6363_6364insCTCTTGCTTGTA (p.Ile2121_Ile2122insLeuLeuLeuVal) c.5700_5701insCTCTTGCTTGTA (p.Ile1900_Ile1901insLeuLeuLeuVal) c.10215_10216insCTCTTGCTTGTA (p.Ile3405_Ile3406insLeuLeuLeuVal) | |
5 | g.13735279G>A | CA443260072 | DNAH5 | c.11613C>T (p.Ile3871=) c.11568C>T (p.Ile3856=) c.11721C>T (p.Ile3907=) c.10626C>T (p.Ile3542=) c.*47C>T (n.*47C>T) c.6810C>T (p.Ile2270=) c.6363C>T (p.Ile2121=) c.5700C>T (p.Ile1900=) c.10215C>T (p.Ile3405=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13735279G>C | CA359223493 | DNAH5 | c.11613C>G (p.Ile3871Met) c.11568C>G (p.Ile3856Met) c.11721C>G (p.Ile3907Met) c.10626C>G (p.Ile3542Met) c.*47C>G (n.*47C>G) c.6810C>G (p.Ile2270Met) c.6363C>G (p.Ile2121Met) c.5700C>G (p.Ile1900Met) c.10215C>G (p.Ile3405Met) | |
5 | g.13735279G= | CA1528414867 | DNAH5 | c.11613C= (p.Ile3871=) c.11568C= (p.Ile3856=) c.11721C= (p.Ile3907=) c.10626C= (p.Ile3542=) c.*47C= (n.*47C=) c.6810C= (p.Ile2270=) c.6363C= (p.Ile2121=) c.5700C= (p.Ile1900=) c.10215C= (p.Ile3405=) | |
5 | g.13735279G>T | CA443260073 | DNAH5 | c.11613C>A (p.Ile3871=) c.11568C>A (p.Ile3856=) c.11721C>A (p.Ile3907=) c.10626C>A (p.Ile3542=) c.*47C>A (n.*47C>A) c.6810C>A (p.Ile2270=) c.6363C>A (p.Ile2121=) c.5700C>A (p.Ile1900=) c.10215C>A (p.Ile3405=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13735280A>C | CA359223496 | DNAH5 | c.11612T>G (p.Ile3871Ser) c.11567T>G (p.Ile3856Ser) c.11720T>G (p.Ile3907Ser) c.10625T>G (p.Ile3542Ser) c.*46T>G (n.*46T>G) c.6809T>G (p.Ile2270Ser) c.6362T>G (p.Ile2121Ser) c.5699T>G (p.Ile1900Ser) c.10214T>G (p.Ile3405Ser) | |
5 | g.13735280A>G | CA359223499 | DNAH5 | c.11612T>C (p.Ile3871Thr) c.11567T>C (p.Ile3856Thr) c.11720T>C (p.Ile3907Thr) c.10625T>C (p.Ile3542Thr) c.*46T>C (n.*46T>C) c.6809T>C (p.Ile2270Thr) c.6362T>C (p.Ile2121Thr) c.5699T>C (p.Ile1900Thr) c.10214T>C (p.Ile3405Thr) | gnomAD v4 |
5 | g.13735280A>T | CA359223501 | DNAH5 | c.11612T>A (p.Ile3871Asn) c.11567T>A (p.Ile3856Asn) c.11720T>A (p.Ile3907Asn) c.10625T>A (p.Ile3542Asn) c.*46T>A (n.*46T>A) c.6809T>A (p.Ile2270Asn) c.6362T>A (p.Ile2121Asn) c.5699T>A (p.Ile1900Asn) c.10214T>A (p.Ile3405Asn) | |
5 | g.13735282_13735283del | CA2580613515 | DNAH5 | c.11611_11612del (p.Ile3871HisfsTer10) c.11566_11567del (p.Ile3856HisfsTer10) c.11719_11720del (p.Ile3907HisfsTer10) c.10624_10625del (p.Ile3542HisfsTer10) c.*45_*46del (n.*45_*46del) c.6808_6809del (p.Ile2270HisfsTer10) c.6361_6362del (p.Ile2121HisfsTer10) c.5698_5699del (p.Ile1900HisfsTer10) c.10213_10214del (p.Ile3405HisfsTer10) | ClinVar |
5 | g.13735281T>A | CA359223507 | DNAH5 | c.11611A>T (p.Ile3871Phe) c.11566A>T (p.Ile3856Phe) c.11719A>T (p.Ile3907Phe) c.10624A>T (p.Ile3542Phe) c.*45A>T (n.*45A>T) c.6808A>T (p.Ile2270Phe) c.6361A>T (p.Ile2121Phe) c.5698A>T (p.Ile1900Phe) c.10213A>T (p.Ile3405Phe) | |
5 | g.13735281T>C | CA359223505 | DNAH5 | c.11611A>G (p.Ile3871Val) c.11566A>G (p.Ile3856Val) c.11719A>G (p.Ile3907Val) c.10624A>G (p.Ile3542Val) c.*45A>G (n.*45A>G) c.6808A>G (p.Ile2270Val) c.6361A>G (p.Ile2121Val) c.5698A>G (p.Ile1900Val) c.10213A>G (p.Ile3405Val) | |
5 | g.13735281T>G | CA359223503 | DNAH5 | c.11611A>C (p.Ile3871Leu) c.11566A>C (p.Ile3856Leu) c.11719A>C (p.Ile3907Leu) c.10624A>C (p.Ile3542Leu) c.*45A>C (n.*45A>C) c.6808A>C (p.Ile2270Leu) c.6361A>C (p.Ile2121Leu) c.5698A>C (p.Ile1900Leu) c.10213A>C (p.Ile3405Leu) | |
5 | g.13735282A>C | CA359223509 | DNAH5 | c.11610T>G (p.Asn3870Lys) c.11565T>G (p.Asn3855Lys) c.11718T>G (p.Asn3906Lys) c.10623T>G (p.Asn3541Lys) c.*44T>G (n.*44T>G) c.6807T>G (p.Asn2269Lys) c.6360T>G (p.Asn2120Lys) c.5697T>G (p.Asn1899Lys) c.10212T>G (p.Asn3404Lys) | |
5 | g.13735282A>G | CA443260076 | DNAH5 | c.11610T>C (p.Asn3870=) c.11565T>C (p.Asn3855=) c.11718T>C (p.Asn3906=) c.10623T>C (p.Asn3541=) c.*44T>C (n.*44T>C) c.6807T>C (p.Asn2269=) c.6360T>C (p.Asn2120=) c.5697T>C (p.Asn1899=) c.10212T>C (p.Asn3404=) | ClinVar dbSNP |
5 | g.13735282A>T | CA359223511 | DNAH5 | c.11610T>A (p.Asn3870Lys) c.11565T>A (p.Asn3855Lys) c.11718T>A (p.Asn3906Lys) c.10623T>A (p.Asn3541Lys) c.*44T>A (n.*44T>A) c.6807T>A (p.Asn2269Lys) c.6360T>A (p.Asn2120Lys) c.5697T>A (p.Asn1899Lys) c.10212T>A (p.Asn3404Lys) | |
5 | g.13735283T>A | CA359223513 | DNAH5 | c.11609A>T (p.Asn3870Ile) c.11564A>T (p.Asn3855Ile) c.11717A>T (p.Asn3906Ile) c.10622A>T (p.Asn3541Ile) c.*43A>T (n.*43A>T) c.6806A>T (p.Asn2269Ile) c.6359A>T (p.Asn2120Ile) c.5696A>T (p.Asn1899Ile) c.10211A>T (p.Asn3404Ile) | gnomAD v4 |
5 | g.13735283T>C | CA359223515 | DNAH5 | c.11609A>G (p.Asn3870Ser) c.11564A>G (p.Asn3855Ser) c.11717A>G (p.Asn3906Ser) c.10622A>G (p.Asn3541Ser) c.*43A>G (n.*43A>G) c.6806A>G (p.Asn2269Ser) c.6359A>G (p.Asn2120Ser) c.5696A>G (p.Asn1899Ser) c.10211A>G (p.Asn3404Ser) | |
5 | g.13735283T>G | CA359223517 | DNAH5 | c.11609A>C (p.Asn3870Thr) c.11564A>C (p.Asn3855Thr) c.11717A>C (p.Asn3906Thr) c.10622A>C (p.Asn3541Thr) c.*43A>C (n.*43A>C) c.6806A>C (p.Asn2269Thr) c.6359A>C (p.Asn2120Thr) c.5696A>C (p.Asn1899Thr) c.10211A>C (p.Asn3404Thr) | |
5 | g.13735284del | CA2697547022 | DNAH5 | c.11609del (p.Asn3870IlefsTer6) c.11564del (p.Asn3855IlefsTer6) c.11717del (p.Asn3906IlefsTer6) c.10622del (p.Asn3541IlefsTer6) c.*43del (n.*43del) c.6806del (p.Asn2269IlefsTer6) c.6359del (p.Asn2120IlefsTer6) c.5696del (p.Asn1899IlefsTer6) c.10211del (p.Asn3404IlefsTer6) | ClinVar |
5 | g.13735284T>A | CA359223519 | DNAH5 | c.11608A>T (p.Asn3870Tyr) c.11563A>T (p.Asn3855Tyr) c.11716A>T (p.Asn3906Tyr) c.10621A>T (p.Asn3541Tyr) c.*42A>T (n.*42A>T) c.6805A>T (p.Asn2269Tyr) c.6358A>T (p.Asn2120Tyr) c.5695A>T (p.Asn1899Tyr) c.10210A>T (p.Asn3404Tyr) | |
5 | g.13735284T>C | CA359223520 | DNAH5 | c.11608A>G (p.Asn3870Asp) c.11563A>G (p.Asn3855Asp) c.11716A>G (p.Asn3906Asp) c.10621A>G (p.Asn3541Asp) c.*42A>G (n.*42A>G) c.6805A>G (p.Asn2269Asp) c.6358A>G (p.Asn2120Asp) c.5695A>G (p.Asn1899Asp) c.10210A>G (p.Asn3404Asp) | |
5 | g.13735284T>G | CA359223522 | DNAH5 | c.11608A>C (p.Asn3870His) c.11563A>C (p.Asn3855His) c.11716A>C (p.Asn3906His) c.10621A>C (p.Asn3541His) c.*42A>C (n.*42A>C) c.6805A>C (p.Asn2269His) c.6358A>C (p.Asn2120His) c.5695A>C (p.Asn1899His) c.10210A>C (p.Asn3404His) | |
5 | g.13735285A>C | CA443260079 | DNAH5 | c.11607T>G (p.Ala3869=) c.11562T>G (p.Ala3854=) c.11715T>G (p.Ala3905=) c.10620T>G (p.Ala3540=) c.*41T>G (n.*41T>G) c.6804T>G (p.Ala2268=) c.6357T>G (p.Ala2119=) c.5694T>G (p.Ala1898=) c.10209T>G (p.Ala3403=) | |
5 | g.13735285A>G | CA443260080 | DNAH5 | c.11607T>C (p.Ala3869=) c.11562T>C (p.Ala3854=) c.11715T>C (p.Ala3905=) c.10620T>C (p.Ala3540=) c.*41T>C (n.*41T>C) c.6804T>C (p.Ala2268=) c.6357T>C (p.Ala2119=) c.5694T>C (p.Ala1898=) c.10209T>C (p.Ala3403=) | COSMIC |
5 | g.13735285A>T | CA443260081 | DNAH5 | c.11607T>A (p.Ala3869=) c.11562T>A (p.Ala3854=) c.11715T>A (p.Ala3905=) c.10620T>A (p.Ala3540=) c.*41T>A (n.*41T>A) c.6804T>A (p.Ala2268=) c.6357T>A (p.Ala2119=) c.5694T>A (p.Ala1898=) c.10209T>A (p.Ala3403=) | |
5 | g.13735286G>A | CA359223526 | DNAH5 | c.11606C>T (p.Ala3869Val) c.11561C>T (p.Ala3854Val) c.11714C>T (p.Ala3905Val) c.10619C>T (p.Ala3540Val) c.*40C>T (n.*40C>T) c.6803C>T (p.Ala2268Val) c.6356C>T (p.Ala2119Val) c.5693C>T (p.Ala1898Val) c.10208C>T (p.Ala3403Val) | |
5 | g.13735286G>C | CA359223528 | DNAH5 | c.11606C>G (p.Ala3869Gly) c.11561C>G (p.Ala3854Gly) c.11714C>G (p.Ala3905Gly) c.10619C>G (p.Ala3540Gly) c.*40C>G (n.*40C>G) c.6803C>G (p.Ala2268Gly) c.6356C>G (p.Ala2119Gly) c.5693C>G (p.Ala1898Gly) c.10208C>G (p.Ala3403Gly) | |
5 | g.13735286G>T | CA359223532 | DNAH5 | c.11606C>A (p.Ala3869Asp) c.11561C>A (p.Ala3854Asp) c.11714C>A (p.Ala3905Asp) c.10619C>A (p.Ala3540Asp) c.*40C>A (n.*40C>A) c.6803C>A (p.Ala2268Asp) c.6356C>A (p.Ala2119Asp) c.5693C>A (p.Ala1898Asp) c.10208C>A (p.Ala3403Asp) | gnomAD v4 |
5 | g.13735288_13735298del | CA2673267926 | DNAH5 | c.11596_11606del (p.Lys3866Ter) c.11551_11561del (p.Lys3851Ter) c.11704_11714del (p.Lys3902Ter) c.10609_10619del (p.Lys3537Ter) c.*30_*40del (n.*30_*40del) c.6793_6803del (p.Lys2265Ter) c.6346_6356del (p.Lys2116Ter) c.5683_5693del (p.Lys1895Ter) c.10198_10208del (p.Lys3400Ter) | gnomAD v4 |
5 | g.13735287C>A | CA359223534 | DNAH5 | c.11605G>T (p.Ala3869Ser) c.11560G>T (p.Ala3854Ser) c.11713G>T (p.Ala3905Ser) c.10618G>T (p.Ala3540Ser) c.*39G>T (n.*39G>T) c.6802G>T (p.Ala2268Ser) c.6355G>T (p.Ala2119Ser) c.5692G>T (p.Ala1898Ser) c.10207G>T (p.Ala3403Ser) | |
5 | g.13735287C>G | CA359223537 | DNAH5 | c.11605G>C (p.Ala3869Pro) c.11560G>C (p.Ala3854Pro) c.11713G>C (p.Ala3905Pro) c.10618G>C (p.Ala3540Pro) c.*39G>C (n.*39G>C) c.6802G>C (p.Ala2268Pro) c.6355G>C (p.Ala2119Pro) c.5692G>C (p.Ala1898Pro) c.10207G>C (p.Ala3403Pro) | |
5 | g.13735287C>T | CA359223540 | DNAH5 | c.11605G>A (p.Ala3869Thr) c.11560G>A (p.Ala3854Thr) c.11713G>A (p.Ala3905Thr) c.10618G>A (p.Ala3540Thr) c.*39G>A (n.*39G>A) c.6802G>A (p.Ala2268Thr) c.6355G>A (p.Ala2119Thr) c.5692G>A (p.Ala1898Thr) c.10207G>A (p.Ala3403Thr) | |
5 | g.13735288A>C | CA359223544 | DNAH5 | c.11604T>G (p.Ile3868Met) c.11559T>G (p.Ile3853Met) c.11712T>G (p.Ile3904Met) c.10617T>G (p.Ile3539Met) c.*38T>G (n.*38T>G) c.6801T>G (p.Ile2267Met) c.6354T>G (p.Ile2118Met) c.5691T>G (p.Ile1897Met) c.10206T>G (p.Ile3402Met) | |
5 | g.13735288A>G | CA443260084 | DNAH5 | c.11604T>C (p.Ile3868=) c.11559T>C (p.Ile3853=) c.11712T>C (p.Ile3904=) c.10617T>C (p.Ile3539=) c.*38T>C (n.*38T>C) c.6801T>C (p.Ile2267=) c.6354T>C (p.Ile2118=) c.5691T>C (p.Ile1897=) c.10206T>C (p.Ile3402=) | |
5 | g.13735288A>T | CA443260082 | DNAH5 | c.11604T>A (p.Ile3868=) c.11559T>A (p.Ile3853=) c.11712T>A (p.Ile3904=) c.10617T>A (p.Ile3539=) c.*38T>A (n.*38T>A) c.6801T>A (p.Ile2267=) c.6354T>A (p.Ile2118=) c.5691T>A (p.Ile1897=) c.10206T>A (p.Ile3402=) | |
5 | g.13735289A>C | CA359223552 | DNAH5 | c.11603T>G (p.Ile3868Ser) c.11558T>G (p.Ile3853Ser) c.11711T>G (p.Ile3904Ser) c.10616T>G (p.Ile3539Ser) c.*37T>G (n.*37T>G) c.6800T>G (p.Ile2267Ser) c.6353T>G (p.Ile2118Ser) c.5690T>G (p.Ile1897Ser) c.10205T>G (p.Ile3402Ser) | |
5 | g.13735289A>G | CA359223553 | DNAH5 | c.11603T>C (p.Ile3868Thr) c.11558T>C (p.Ile3853Thr) c.11711T>C (p.Ile3904Thr) c.10616T>C (p.Ile3539Thr) c.*37T>C (n.*37T>C) c.6800T>C (p.Ile2267Thr) c.6353T>C (p.Ile2118Thr) c.5690T>C (p.Ile1897Thr) c.10205T>C (p.Ile3402Thr) | gnomAD v4 |
5 | g.13735289A>T | CA359223554 | DNAH5 | c.11603T>A (p.Ile3868Asn) c.11558T>A (p.Ile3853Asn) c.11711T>A (p.Ile3904Asn) c.10616T>A (p.Ile3539Asn) c.*37T>A (n.*37T>A) c.6800T>A (p.Ile2267Asn) c.6353T>A (p.Ile2118Asn) c.5690T>A (p.Ile1897Asn) c.10205T>A (p.Ile3402Asn) | |
5 | g.13735290T>A | CA359223555 | DNAH5 | c.11602A>T (p.Ile3868Phe) c.11557A>T (p.Ile3853Phe) c.11710A>T (p.Ile3904Phe) c.10615A>T (p.Ile3539Phe) c.*36A>T (n.*36A>T) c.6799A>T (p.Ile2267Phe) c.6352A>T (p.Ile2118Phe) c.5689A>T (p.Ile1897Phe) c.10204A>T (p.Ile3402Phe) | gnomAD v4 |
5 | g.13735290T>C | CA359223556 | DNAH5 | c.11602A>G (p.Ile3868Val) c.11557A>G (p.Ile3853Val) c.11710A>G (p.Ile3904Val) c.10615A>G (p.Ile3539Val) c.*36A>G (n.*36A>G) c.6799A>G (p.Ile2267Val) c.6352A>G (p.Ile2118Val) c.5689A>G (p.Ile1897Val) c.10204A>G (p.Ile3402Val) | |
5 | g.13735290T>G | CA359223557 | DNAH5 | c.11602A>C (p.Ile3868Leu) c.11557A>C (p.Ile3853Leu) c.11710A>C (p.Ile3904Leu) c.10615A>C (p.Ile3539Leu) c.*36A>C (n.*36A>C) c.6799A>C (p.Ile2267Leu) c.6352A>C (p.Ile2118Leu) c.5689A>C (p.Ile1897Leu) c.10204A>C (p.Ile3402Leu) | |
5 | g.13735291C>A | CA359223560 | DNAH5 | c.11601G>T (p.Arg3867Ser) c.11556G>T (p.Arg3852Ser) c.11709G>T (p.Arg3903Ser) c.10614G>T (p.Arg3538Ser) c.*35G>T (n.*35G>T) c.6798G>T (p.Arg2266Ser) c.6351G>T (p.Arg2117Ser) c.5688G>T (p.Arg1896Ser) c.10203G>T (p.Arg3401Ser) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13735291C= | CA1528414868 | DNAH5 | c.11601G= (p.Arg3867=) c.11556G= (p.Arg3852=) c.11709G= (p.Arg3903=) c.10614G= (p.Arg3538=) c.*35G= (n.*35G=) c.6798G= (p.Arg2266=) c.6351G= (p.Arg2117=) c.5688G= (p.Arg1896=) c.10203G= (p.Arg3401=) | |
5 | g.13735291C>G | CA359223563 | DNAH5 | c.11601G>C (p.Arg3867Ser) c.11556G>C (p.Arg3852Ser) c.11709G>C (p.Arg3903Ser) c.10614G>C (p.Arg3538Ser) c.*35G>C (n.*35G>C) c.6798G>C (p.Arg2266Ser) c.6351G>C (p.Arg2117Ser) c.5688G>C (p.Arg1896Ser) c.10203G>C (p.Arg3401Ser) | |
5 | g.13735291C>T | CA3201897 | DNAH5 | c.11601G>A (p.Arg3867=) c.11556G>A (p.Arg3852=) c.11709G>A (p.Arg3903=) c.10614G>A (p.Arg3538=) c.*35G>A (n.*35G>A) c.6798G>A (p.Arg2266=) c.6351G>A (p.Arg2117=) c.5688G>A (p.Arg1896=) c.10203G>A (p.Arg3401=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735292C>A | CA359223567 | DNAH5 | c.11600G>T (p.Arg3867Met) c.11555G>T (p.Arg3852Met) c.11708G>T (p.Arg3903Met) c.10613G>T (p.Arg3538Met) c.*34G>T (n.*34G>T) c.6797G>T (p.Arg2266Met) c.6350G>T (p.Arg2117Met) c.5687G>T (p.Arg1896Met) c.10202G>T (p.Arg3401Met) | |
5 | g.13735292C>G | CA359223569 | DNAH5 | c.11600G>C (p.Arg3867Thr) c.11555G>C (p.Arg3852Thr) c.11708G>C (p.Arg3903Thr) c.10613G>C (p.Arg3538Thr) c.*34G>C (n.*34G>C) c.6797G>C (p.Arg2266Thr) c.6350G>C (p.Arg2117Thr) c.5687G>C (p.Arg1896Thr) c.10202G>C (p.Arg3401Thr) | |
5 | g.13735292C>T | CA359223572 | DNAH5 | c.11600G>A (p.Arg3867Lys) c.11555G>A (p.Arg3852Lys) c.11708G>A (p.Arg3903Lys) c.10613G>A (p.Arg3538Lys) c.*34G>A (n.*34G>A) c.6797G>A (p.Arg2266Lys) c.6350G>A (p.Arg2117Lys) c.5687G>A (p.Arg1896Lys) c.10202G>A (p.Arg3401Lys) | |
5 | g.13735293T>A | CA359223575 | DNAH5 | c.11599A>T (p.Arg3867Trp) c.11554A>T (p.Arg3852Trp) c.11707A>T (p.Arg3903Trp) c.10612A>T (p.Arg3538Trp) c.*33A>T (n.*33A>T) c.6796A>T (p.Arg2266Trp) c.6349A>T (p.Arg2117Trp) c.5686A>T (p.Arg1896Trp) c.10201A>T (p.Arg3401Trp) | |
5 | g.13735293T>C | CA359223576 | DNAH5 | c.11599A>G (p.Arg3867Gly) c.11554A>G (p.Arg3852Gly) c.11707A>G (p.Arg3903Gly) c.10612A>G (p.Arg3538Gly) c.*33A>G (n.*33A>G) c.6796A>G (p.Arg2266Gly) c.6349A>G (p.Arg2117Gly) c.5686A>G (p.Arg1896Gly) c.10201A>G (p.Arg3401Gly) | |
5 | g.13735293T>G | CA443260086 | DNAH5 | c.11599A>C (p.Arg3867=) c.11554A>C (p.Arg3852=) c.11707A>C (p.Arg3903=) c.10612A>C (p.Arg3538=) c.*33A>C (n.*33A>C) c.6796A>C (p.Arg2266=) c.6349A>C (p.Arg2117=) c.5686A>C (p.Arg1896=) c.10201A>C (p.Arg3401=) | |
5 | g.13735294C>A | CA359223580 | DNAH5 | c.11598G>T (p.Lys3866Asn) c.11553G>T (p.Lys3851Asn) c.11706G>T (p.Lys3902Asn) c.10611G>T (p.Lys3537Asn) c.*32G>T (n.*32G>T) c.6795G>T (p.Lys2265Asn) c.6348G>T (p.Lys2116Asn) c.5685G>T (p.Lys1895Asn) c.10200G>T (p.Lys3400Asn) | gnomAD v4 |
5 | g.13735294C= | CA1528414869 | DNAH5 | c.11598G= (p.Lys3866=) c.11553G= (p.Lys3851=) c.11706G= (p.Lys3902=) c.10611G= (p.Lys3537=) c.*32G= (n.*32G=) c.6795G= (p.Lys2265=) c.6348G= (p.Lys2116=) c.5685G= (p.Lys1895=) c.10200G= (p.Lys3400=) | |
5 | g.13735294C>G | CA359223578 | DNAH5 | c.11598G>C (p.Lys3866Asn) c.11553G>C (p.Lys3851Asn) c.11706G>C (p.Lys3902Asn) c.10611G>C (p.Lys3537Asn) c.*32G>C (n.*32G>C) c.6795G>C (p.Lys2265Asn) c.6348G>C (p.Lys2116Asn) c.5685G>C (p.Lys1895Asn) c.10200G>C (p.Lys3400Asn) | |
5 | g.13735294C>T | CA443260087 | DNAH5 | c.11598G>A (p.Lys3866=) c.11553G>A (p.Lys3851=) c.11706G>A (p.Lys3902=) c.10611G>A (p.Lys3537=) c.*32G>A (n.*32G>A) c.6795G>A (p.Lys2265=) c.6348G>A (p.Lys2116=) c.5685G>A (p.Lys1895=) c.10200G>A (p.Lys3400=) | ClinVar dbSNP |
5 | g.13735295T>A | CA359223583 | DNAH5 | c.11597A>T (p.Lys3866Met) c.11552A>T (p.Lys3851Met) c.11705A>T (p.Lys3902Met) c.10610A>T (p.Lys3537Met) c.*31A>T (n.*31A>T) c.6794A>T (p.Lys2265Met) c.6347A>T (p.Lys2116Met) c.5684A>T (p.Lys1895Met) c.10199A>T (p.Lys3400Met) | |
5 | g.13735295T>C | CA359223589 | DNAH5 | c.11597A>G (p.Lys3866Arg) c.11552A>G (p.Lys3851Arg) c.11705A>G (p.Lys3902Arg) c.10610A>G (p.Lys3537Arg) c.*31A>G (n.*31A>G) c.6794A>G (p.Lys2265Arg) c.6347A>G (p.Lys2116Arg) c.5684A>G (p.Lys1895Arg) c.10199A>G (p.Lys3400Arg) | |
5 | g.13735295T>G | CA359223588 | DNAH5 | c.11597A>C (p.Lys3866Thr) c.11552A>C (p.Lys3851Thr) c.11705A>C (p.Lys3902Thr) c.10610A>C (p.Lys3537Thr) c.*31A>C (n.*31A>C) c.6794A>C (p.Lys2265Thr) c.6347A>C (p.Lys2116Thr) c.5684A>C (p.Lys1895Thr) c.10199A>C (p.Lys3400Thr) | |
5 | g.13735296T>A | CA359223592 | DNAH5 | c.11596A>T (p.Lys3866Ter) c.11551A>T (p.Lys3851Ter) c.11704A>T (p.Lys3902Ter) c.10609A>T (p.Lys3537Ter) c.*30A>T (n.*30A>T) c.6793A>T (p.Lys2265Ter) c.6346A>T (p.Lys2116Ter) c.5683A>T (p.Lys1895Ter) c.10198A>T (p.Lys3400Ter) | |
5 | g.13735296T>C | CA359223594 | DNAH5 | c.11596A>G (p.Lys3866Glu) c.11551A>G (p.Lys3851Glu) c.11704A>G (p.Lys3902Glu) c.10609A>G (p.Lys3537Glu) c.*30A>G (n.*30A>G) c.6793A>G (p.Lys2265Glu) c.6346A>G (p.Lys2116Glu) c.5683A>G (p.Lys1895Glu) c.10198A>G (p.Lys3400Glu) | gnomAD v4 |
5 | g.13735296T>G | CA359223595 | DNAH5 | c.11596A>C (p.Lys3866Gln) c.11551A>C (p.Lys3851Gln) c.11704A>C (p.Lys3902Gln) c.10609A>C (p.Lys3537Gln) c.*30A>C (n.*30A>C) c.6793A>C (p.Lys2265Gln) c.6346A>C (p.Lys2116Gln) c.5683A>C (p.Lys1895Gln) c.10198A>C (p.Lys3400Gln) | |
5 | g.13735297G>A | CA443260089 | DNAH5 | c.11595C>T (p.Ser3865=) c.11550C>T (p.Ser3850=) c.11703C>T (p.Ser3901=) c.10608C>T (p.Ser3536=) c.*29C>T (n.*29C>T) c.6792C>T (p.Ser2264=) c.6345C>T (p.Ser2115=) c.5682C>T (p.Ser1894=) c.10197C>T (p.Ser3399=) | |
5 | g.13735297G>C | CA359223597 | DNAH5 | c.11595C>G (p.Ser3865Arg) c.11550C>G (p.Ser3850Arg) c.11703C>G (p.Ser3901Arg) c.10608C>G (p.Ser3536Arg) c.*29C>G (n.*29C>G) c.6792C>G (p.Ser2264Arg) c.6345C>G (p.Ser2115Arg) c.5682C>G (p.Ser1894Arg) c.10197C>G (p.Ser3399Arg) | |
5 | g.13735297G>T | CA359223605 | DNAH5 | c.11595C>A (p.Ser3865Arg) c.11550C>A (p.Ser3850Arg) c.11703C>A (p.Ser3901Arg) c.10608C>A (p.Ser3536Arg) c.*29C>A (n.*29C>A) c.6792C>A (p.Ser2264Arg) c.6345C>A (p.Ser2115Arg) c.5682C>A (p.Ser1894Arg) c.10197C>A (p.Ser3399Arg) | |
5 | g.13735298C>A | CA359223606 | DNAH5 | c.11594G>T (p.Ser3865Ile) c.11549G>T (p.Ser3850Ile) c.11702G>T (p.Ser3901Ile) c.10607G>T (p.Ser3536Ile) c.*28G>T (n.*28G>T) c.6791G>T (p.Ser2264Ile) c.6344G>T (p.Ser2115Ile) c.5681G>T (p.Ser1894Ile) c.10196G>T (p.Ser3399Ile) | |
5 | g.13735298C>G | CA359223607 | DNAH5 | c.11594G>C (p.Ser3865Thr) c.11549G>C (p.Ser3850Thr) c.11702G>C (p.Ser3901Thr) c.10607G>C (p.Ser3536Thr) c.*28G>C (n.*28G>C) c.6791G>C (p.Ser2264Thr) c.6344G>C (p.Ser2115Thr) c.5681G>C (p.Ser1894Thr) c.10196G>C (p.Ser3399Thr) | |
5 | g.13735298C>T | CA359223609 | DNAH5 | c.11594G>A (p.Ser3865Asn) c.11549G>A (p.Ser3850Asn) c.11702G>A (p.Ser3901Asn) c.10607G>A (p.Ser3536Asn) c.*28G>A (n.*28G>A) c.6791G>A (p.Ser2264Asn) c.6344G>A (p.Ser2115Asn) c.5681G>A (p.Ser1894Asn) c.10196G>A (p.Ser3399Asn) | |
5 | g.13735299T>A | CA359223611 | DNAH5 | c.11593A>T (p.Ser3865Cys) c.11548A>T (p.Ser3850Cys) c.11701A>T (p.Ser3901Cys) c.10606A>T (p.Ser3536Cys) c.*27A>T (n.*27A>T) c.6790A>T (p.Ser2264Cys) c.6343A>T (p.Ser2115Cys) c.5680A>T (p.Ser1894Cys) c.10195A>T (p.Ser3399Cys) | |
5 | g.13735299T>C | CA359223614 | DNAH5 | c.11593A>G (p.Ser3865Gly) c.11548A>G (p.Ser3850Gly) c.11701A>G (p.Ser3901Gly) c.10606A>G (p.Ser3536Gly) c.*27A>G (n.*27A>G) c.6790A>G (p.Ser2264Gly) c.6343A>G (p.Ser2115Gly) c.5680A>G (p.Ser1894Gly) c.10195A>G (p.Ser3399Gly) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
5 | g.13735299T>G | CA359223617 | DNAH5 | c.11593A>C (p.Ser3865Arg) c.11548A>C (p.Ser3850Arg) c.11701A>C (p.Ser3901Arg) c.10606A>C (p.Ser3536Arg) c.*27A>C (n.*27A>C) c.6790A>C (p.Ser2264Arg) c.6343A>C (p.Ser2115Arg) c.5680A>C (p.Ser1894Arg) c.10195A>C (p.Ser3399Arg) | |
5 | g.13735299T= | CA1528414870 | DNAH5 | c.11593A= (p.Ser3865=) c.11548A= (p.Ser3850=) c.11701A= (p.Ser3901=) c.10606A= (p.Ser3536=) c.*27A= (n.*27A=) c.6790A= (p.Ser2264=) c.6343A= (p.Ser2115=) c.5680A= (p.Ser1894=) c.10195A= (p.Ser3399=) | |
5 | g.13735300T>A | CA443260093 | DNAH5 | c.11592A>T (p.Thr3864=) c.11547A>T (p.Thr3849=) c.11700A>T (p.Thr3900=) c.10605A>T (p.Thr3535=) c.*26A>T (n.*26A>T) c.6789A>T (p.Thr2263=) c.6342A>T (p.Thr2114=) c.5679A>T (p.Thr1893=) c.10194A>T (p.Thr3398=) | |
5 | g.13735300T>C | CA443260094 | DNAH5 | c.11592A>G (p.Thr3864=) c.11547A>G (p.Thr3849=) c.11700A>G (p.Thr3900=) c.10605A>G (p.Thr3535=) c.*26A>G (n.*26A>G) c.6789A>G (p.Thr2263=) c.6342A>G (p.Thr2114=) c.5679A>G (p.Thr1893=) c.10194A>G (p.Thr3398=) | |
5 | g.13735300T>G | CA443260095 | DNAH5 | c.11592A>C (p.Thr3864=) c.11547A>C (p.Thr3849=) c.11700A>C (p.Thr3900=) c.10605A>C (p.Thr3535=) c.*26A>C (n.*26A>C) c.6789A>C (p.Thr2263=) c.6342A>C (p.Thr2114=) c.5679A>C (p.Thr1893=) c.10194A>C (p.Thr3398=) | gnomAD v4 |
5 | g.13735301G>A | CA359223621 | DNAH5 | c.11591C>T (p.Thr3864Ile) c.11546C>T (p.Thr3849Ile) c.11699C>T (p.Thr3900Ile) c.10604C>T (p.Thr3535Ile) c.*25C>T (n.*25C>T) c.6788C>T (p.Thr2263Ile) c.6341C>T (p.Thr2114Ile) c.5678C>T (p.Thr1893Ile) c.10193C>T (p.Thr3398Ile) | dbSNP |
5 | g.13735301G>C | CA359223619 | DNAH5 | c.11591C>G (p.Thr3864Arg) c.11546C>G (p.Thr3849Arg) c.11699C>G (p.Thr3900Arg) c.10604C>G (p.Thr3535Arg) c.*25C>G (n.*25C>G) c.6788C>G (p.Thr2263Arg) c.6341C>G (p.Thr2114Arg) c.5678C>G (p.Thr1893Arg) c.10193C>G (p.Thr3398Arg) | gnomAD v4 |
5 | g.13735301G= | CA1528414871 | DNAH5 | c.11591C= (p.Thr3864=) c.11546C= (p.Thr3849=) c.11699C= (p.Thr3900=) c.10604C= (p.Thr3535=) c.*25C= (n.*25C=) c.6788C= (p.Thr2263=) c.6341C= (p.Thr2114=) c.5678C= (p.Thr1893=) c.10193C= (p.Thr3398=) | |
5 | g.13735301G>T | CA359223618 | DNAH5 | c.11591C>A (p.Thr3864Lys) c.11546C>A (p.Thr3849Lys) c.11699C>A (p.Thr3900Lys) c.10604C>A (p.Thr3535Lys) c.*25C>A (n.*25C>A) c.6788C>A (p.Thr2263Lys) c.6341C>A (p.Thr2114Lys) c.5678C>A (p.Thr1893Lys) c.10193C>A (p.Thr3398Lys) | |
5 | g.13735302T>A | CA359223624 | DNAH5 | c.11590A>T (p.Thr3864Ser) c.11545A>T (p.Thr3849Ser) c.11698A>T (p.Thr3900Ser) c.10603A>T (p.Thr3535Ser) c.*24A>T (n.*24A>T) c.6787A>T (p.Thr2263Ser) c.6340A>T (p.Thr2114Ser) c.5677A>T (p.Thr1893Ser) c.10192A>T (p.Thr3398Ser) | |
5 | g.13735302T>C | CA359223627 | DNAH5 | c.11590A>G (p.Thr3864Ala) c.11545A>G (p.Thr3849Ala) c.11698A>G (p.Thr3900Ala) c.10603A>G (p.Thr3535Ala) c.*24A>G (n.*24A>G) c.6787A>G (p.Thr2263Ala) c.6340A>G (p.Thr2114Ala) c.5677A>G (p.Thr1893Ala) c.10192A>G (p.Thr3398Ala) | |
5 | g.13735302T>G | CA359223628 | DNAH5 | c.11590A>C (p.Thr3864Pro) c.11545A>C (p.Thr3849Pro) c.11698A>C (p.Thr3900Pro) c.10603A>C (p.Thr3535Pro) c.*24A>C (n.*24A>C) c.6787A>C (p.Thr2263Pro) c.6340A>C (p.Thr2114Pro) c.5677A>C (p.Thr1893Pro) c.10192A>C (p.Thr3398Pro) | |
5 | g.13735303A= | CA1528414872 | DNAH5 | c.11589T= (p.Ile3863=) c.11544T= (p.Ile3848=) c.11697T= (p.Ile3899=) c.10602T= (p.Ile3534=) c.*23T= (n.*23T=) c.6786T= (p.Ile2262=) c.6339T= (p.Ile2113=) c.5676T= (p.Ile1892=) c.10191T= (p.Ile3397=) | |
5 | g.13735303A>C | CA359223629 | DNAH5 | c.11589T>G (p.Ile3863Met) c.11544T>G (p.Ile3848Met) c.11697T>G (p.Ile3899Met) c.10602T>G (p.Ile3534Met) c.*23T>G (n.*23T>G) c.6786T>G (p.Ile2262Met) c.6339T>G (p.Ile2113Met) c.5676T>G (p.Ile1892Met) c.10191T>G (p.Ile3397Met) | |
5 | g.13735303A>G | CA443260097 | DNAH5 | c.11589T>C (p.Ile3863=) c.11544T>C (p.Ile3848=) c.11697T>C (p.Ile3899=) c.10602T>C (p.Ile3534=) c.*23T>C (n.*23T>C) c.6786T>C (p.Ile2262=) c.6339T>C (p.Ile2113=) c.5676T>C (p.Ile1892=) c.10191T>C (p.Ile3397=) | |
5 | g.13735303A>T | CA443260096 | DNAH5 | c.11589T>A (p.Ile3863=) c.11544T>A (p.Ile3848=) c.11697T>A (p.Ile3899=) c.10602T>A (p.Ile3534=) c.*23T>A (n.*23T>A) c.6786T>A (p.Ile2262=) c.6339T>A (p.Ile2113=) c.5676T>A (p.Ile1892=) c.10191T>A (p.Ile3397=) | dbSNP gnomAD v4 |
5 | g.13735304dup | CA2695204198 | DNAH5 | c.11589dup (p.Thr3864TyrfsTer7) c.11544dup (p.Thr3849TyrfsTer7) c.11697dup (p.Thr3900TyrfsTer7) c.10602dup (p.Thr3535TyrfsTer7) c.*23dup (n.*23dup) c.6786dup (p.Thr2263TyrfsTer7) c.6339dup (p.Thr2114TyrfsTer7) c.5676dup (p.Thr1893TyrfsTer7) c.10191dup (p.Thr3398TyrfsTer7) | |
5 | g.13735304A>C | CA359223631 | DNAH5 | c.11588T>G (p.Ile3863Ser) c.11543T>G (p.Ile3848Ser) c.11696T>G (p.Ile3899Ser) c.10601T>G (p.Ile3534Ser) c.*22T>G (n.*22T>G) c.6785T>G (p.Ile2262Ser) c.6338T>G (p.Ile2113Ser) c.5675T>G (p.Ile1892Ser) c.10190T>G (p.Ile3397Ser) | |
5 | g.13735304A>G | CA359223633 | DNAH5 | c.11588T>C (p.Ile3863Thr) c.11543T>C (p.Ile3848Thr) c.11696T>C (p.Ile3899Thr) c.10601T>C (p.Ile3534Thr) c.*22T>C (n.*22T>C) c.6785T>C (p.Ile2262Thr) c.6338T>C (p.Ile2113Thr) c.5675T>C (p.Ile1892Thr) c.10190T>C (p.Ile3397Thr) | |
5 | g.13735304A>T | CA359223636 | DNAH5 | c.11588T>A (p.Ile3863Asn) c.11543T>A (p.Ile3848Asn) c.11696T>A (p.Ile3899Asn) c.10601T>A (p.Ile3534Asn) c.*22T>A (n.*22T>A) c.6785T>A (p.Ile2262Asn) c.6338T>A (p.Ile2113Asn) c.5675T>A (p.Ile1892Asn) c.10190T>A (p.Ile3397Asn) | |
5 | g.13735305T>A | CA359223640 | DNAH5 | c.11587A>T (p.Ile3863Phe) c.11542A>T (p.Ile3848Phe) c.11695A>T (p.Ile3899Phe) c.10600A>T (p.Ile3534Phe) c.*21A>T (n.*21A>T) c.6784A>T (p.Ile2262Phe) c.6337A>T (p.Ile2113Phe) c.5674A>T (p.Ile1892Phe) c.10189A>T (p.Ile3397Phe) | |
5 | g.13735305T>C | CA359223644 | DNAH5 | c.11587A>G (p.Ile3863Val) c.11542A>G (p.Ile3848Val) c.11695A>G (p.Ile3899Val) c.10600A>G (p.Ile3534Val) c.*21A>G (n.*21A>G) c.6784A>G (p.Ile2262Val) c.6337A>G (p.Ile2113Val) c.5674A>G (p.Ile1892Val) c.10189A>G (p.Ile3397Val) | |
5 | g.13735305T>G | CA359223649 | DNAH5 | c.11587A>C (p.Ile3863Leu) c.11542A>C (p.Ile3848Leu) c.11695A>C (p.Ile3899Leu) c.10600A>C (p.Ile3534Leu) c.*21A>C (n.*21A>C) c.6784A>C (p.Ile2262Leu) c.6337A>C (p.Ile2113Leu) c.5674A>C (p.Ile1892Leu) c.10189A>C (p.Ile3397Leu) | |
5 | g.13735306C>A | CA443260100 | DNAH5 | c.11586G>T (p.Pro3862=) c.11541G>T (p.Pro3847=) c.11694G>T (p.Pro3898=) c.10599G>T (p.Pro3533=) c.*20G>T (n.*20G>T) c.6783G>T (p.Pro2261=) c.6336G>T (p.Pro2112=) c.5673G>T (p.Pro1891=) c.10188G>T (p.Pro3396=) | ClinVar dbSNP gnomAD v4 |
5 | g.13735306C= | CA1528414873 | DNAH5 | c.11586G= (p.Pro3862=) c.11541G= (p.Pro3847=) c.11694G= (p.Pro3898=) c.10599G= (p.Pro3533=) c.*20G= (n.*20G=) c.6783G= (p.Pro2261=) c.6336G= (p.Pro2112=) c.5673G= (p.Pro1891=) c.10188G= (p.Pro3396=) | |
5 | g.13735306C>G | CA339228 | DNAH5 | c.11586G>C (p.Pro3862=) c.11541G>C (p.Pro3847=) c.11694G>C (p.Pro3898=) c.10599G>C (p.Pro3533=) c.*20G>C (n.*20G>C) c.6783G>C (p.Pro2261=) c.6336G>C (p.Pro2112=) c.5673G>C (p.Pro1891=) c.10188G>C (p.Pro3396=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735306C>T | CA3201898 | DNAH5 | c.11586G>A (p.Pro3862=) c.11541G>A (p.Pro3847=) c.11694G>A (p.Pro3898=) c.10599G>A (p.Pro3533=) c.*20G>A (n.*20G>A) c.6783G>A (p.Pro2261=) c.6336G>A (p.Pro2112=) c.5673G>A (p.Pro1891=) c.10188G>A (p.Pro3396=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13735307G>A | CA3201899 | DNAH5 | c.11585C>T (p.Pro3862Leu) c.11540C>T (p.Pro3847Leu) c.11693C>T (p.Pro3898Leu) c.10598C>T (p.Pro3533Leu) c.*19C>T (n.*19C>T) c.6782C>T (p.Pro2261Leu) c.6335C>T (p.Pro2112Leu) c.5672C>T (p.Pro1891Leu) c.10187C>T (p.Pro3396Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735307G>C | CA359223664 | DNAH5 | c.11585C>G (p.Pro3862Arg) c.11540C>G (p.Pro3847Arg) c.11693C>G (p.Pro3898Arg) c.10598C>G (p.Pro3533Arg) c.*19C>G (n.*19C>G) c.6782C>G (p.Pro2261Arg) c.6335C>G (p.Pro2112Arg) c.5672C>G (p.Pro1891Arg) c.10187C>G (p.Pro3396Arg) | ClinVar dbSNP gnomAD v4 |
5 | g.13735307G= | CA1528414874 | DNAH5 | c.11585C= (p.Pro3862=) c.11540C= (p.Pro3847=) c.11693C= (p.Pro3898=) c.10598C= (p.Pro3533=) c.*19C= (n.*19C=) c.6782C= (p.Pro2261=) c.6335C= (p.Pro2112=) c.5672C= (p.Pro1891=) c.10187C= (p.Pro3396=) | |
5 | g.13735307G>T | CA359223662 | DNAH5 | c.11585C>A (p.Pro3862Gln) c.11540C>A (p.Pro3847Gln) c.11693C>A (p.Pro3898Gln) c.10598C>A (p.Pro3533Gln) c.*19C>A (n.*19C>A) c.6782C>A (p.Pro2261Gln) c.6335C>A (p.Pro2112Gln) c.5672C>A (p.Pro1891Gln) c.10187C>A (p.Pro3396Gln) | gnomAD v4 |
5 | g.13735309del | CA2673267927 | DNAH5 | c.11585del (p.Pro3862ArgfsTer14) c.11540del (p.Pro3847ArgfsTer14) c.11693del (p.Pro3898ArgfsTer14) c.10598del (p.Pro3533ArgfsTer14) c.*19del (n.*19del) c.6782del (p.Pro2261ArgfsTer14) c.6335del (p.Pro2112ArgfsTer14) c.5672del (p.Pro1891ArgfsTer14) c.10187del (p.Pro3396ArgfsTer14) | gnomAD v4 |
5 | g.13735308G>A | CA359223680 | DNAH5 | c.11584C>T (p.Pro3862Ser) c.11539C>T (p.Pro3847Ser) c.11692C>T (p.Pro3898Ser) c.10597C>T (p.Pro3533Ser) c.*18C>T (n.*18C>T) c.6781C>T (p.Pro2261Ser) c.6334C>T (p.Pro2112Ser) c.5671C>T (p.Pro1891Ser) c.10186C>T (p.Pro3396Ser) | |
5 | g.13735308G>C | CA359223675 | DNAH5 | c.11584C>G (p.Pro3862Ala) c.11539C>G (p.Pro3847Ala) c.11692C>G (p.Pro3898Ala) c.10597C>G (p.Pro3533Ala) c.*18C>G (n.*18C>G) c.6781C>G (p.Pro2261Ala) c.6334C>G (p.Pro2112Ala) c.5671C>G (p.Pro1891Ala) c.10186C>G (p.Pro3396Ala) | gnomAD v4 |
5 | g.13735308G>T | CA359223679 | DNAH5 | c.11584C>A (p.Pro3862Thr) c.11539C>A (p.Pro3847Thr) c.11692C>A (p.Pro3898Thr) c.10597C>A (p.Pro3533Thr) c.*18C>A (n.*18C>A) c.6781C>A (p.Pro2261Thr) c.6334C>A (p.Pro2112Thr) c.5671C>A (p.Pro1891Thr) c.10186C>A (p.Pro3396Thr) | |
5 | g.13735309G>A | CA443260102 | DNAH5 | c.11583C>T (p.Ser3861=) c.11538C>T (p.Ser3846=) c.11691C>T (p.Ser3897=) c.10596C>T (p.Ser3532=) c.*17C>T (n.*17C>T) c.6780C>T (p.Ser2260=) c.6333C>T (p.Ser2111=) c.5670C>T (p.Ser1890=) c.10185C>T (p.Ser3395=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13735309G>C | CA359223684 | DNAH5 | c.11583C>G (p.Ser3861Arg) c.11538C>G (p.Ser3846Arg) c.11691C>G (p.Ser3897Arg) c.10596C>G (p.Ser3532Arg) c.*17C>G (n.*17C>G) c.6780C>G (p.Ser2260Arg) c.6333C>G (p.Ser2111Arg) c.5670C>G (p.Ser1890Arg) c.10185C>G (p.Ser3395Arg) | |
5 | g.13735309G= | CA1528414875 | DNAH5 | c.11583C= (p.Ser3861=) c.11538C= (p.Ser3846=) c.11691C= (p.Ser3897=) c.10596C= (p.Ser3532=) c.*17C= (n.*17C=) c.6780C= (p.Ser2260=) c.6333C= (p.Ser2111=) c.5670C= (p.Ser1890=) c.10185C= (p.Ser3395=) | |
5 | g.13735309G>T | CA3201900 | DNAH5 | c.11583C>A (p.Ser3861Arg) c.11538C>A (p.Ser3846Arg) c.11691C>A (p.Ser3897Arg) c.10596C>A (p.Ser3532Arg) c.*17C>A (n.*17C>A) c.6780C>A (p.Ser2260Arg) c.6333C>A (p.Ser2111Arg) c.5670C>A (p.Ser1890Arg) c.10185C>A (p.Ser3395Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13735310C>A | CA359223691 | DNAH5 | c.11582G>T (p.Ser3861Ile) c.11537G>T (p.Ser3846Ile) c.11690G>T (p.Ser3897Ile) c.10595G>T (p.Ser3532Ile) c.*16G>T (n.*16G>T) c.6779G>T (p.Ser2260Ile) c.6332G>T (p.Ser2111Ile) c.5669G>T (p.Ser1890Ile) c.10184G>T (p.Ser3395Ile) | |
5 | g.13735310C>G | CA359223692 | DNAH5 | c.11582G>C (p.Ser3861Thr) c.11537G>C (p.Ser3846Thr) c.11690G>C (p.Ser3897Thr) c.10595G>C (p.Ser3532Thr) c.*16G>C (n.*16G>C) c.6779G>C (p.Ser2260Thr) c.6332G>C (p.Ser2111Thr) c.5669G>C (p.Ser1890Thr) c.10184G>C (p.Ser3395Thr) | |
5 | g.13735310C>T | CA359223693 | DNAH5 | c.11582G>A (p.Ser3861Asn) c.11537G>A (p.Ser3846Asn) c.11690G>A (p.Ser3897Asn) c.10595G>A (p.Ser3532Asn) c.*16G>A (n.*16G>A) c.6779G>A (p.Ser2260Asn) c.6332G>A (p.Ser2111Asn) c.5669G>A (p.Ser1890Asn) c.10184G>A (p.Ser3395Asn) | |
5 | g.13735311T>A | CA359223695 | DNAH5 | c.11581A>T (p.Ser3861Cys) c.11536A>T (p.Ser3846Cys) c.11689A>T (p.Ser3897Cys) c.10594A>T (p.Ser3532Cys) c.*15A>T (n.*15A>T) c.6778A>T (p.Ser2260Cys) c.6331A>T (p.Ser2111Cys) c.5668A>T (p.Ser1890Cys) c.10183A>T (p.Ser3395Cys) | |
5 | g.13735311T>C | CA359223697 | DNAH5 | c.11581A>G (p.Ser3861Gly) c.11536A>G (p.Ser3846Gly) c.11689A>G (p.Ser3897Gly) c.10594A>G (p.Ser3532Gly) c.*15A>G (n.*15A>G) c.6778A>G (p.Ser2260Gly) c.6331A>G (p.Ser2111Gly) c.5668A>G (p.Ser1890Gly) c.10183A>G (p.Ser3395Gly) | |
5 | g.13735311T>G | CA359223700 | DNAH5 | c.11581A>C (p.Ser3861Arg) c.11536A>C (p.Ser3846Arg) c.11689A>C (p.Ser3897Arg) c.10594A>C (p.Ser3532Arg) c.*15A>C (n.*15A>C) c.6778A>C (p.Ser2260Arg) c.6331A>C (p.Ser2111Arg) c.5668A>C (p.Ser1890Arg) c.10183A>C (p.Ser3395Arg) | |
5 | g.13735312C>A | CA359223705 | DNAH5 | c.11580G>T (p.Lys3860Asn) c.11535G>T (p.Lys3845Asn) c.11688G>T (p.Lys3896Asn) c.10593G>T (p.Lys3531Asn) c.*14G>T (n.*14G>T) c.6777G>T (p.Lys2259Asn) c.6330G>T (p.Lys2110Asn) c.5667G>T (p.Lys1889Asn) c.10182G>T (p.Lys3394Asn) | |
5 | g.13735312C>G | CA359223708 | DNAH5 | c.11580G>C (p.Lys3860Asn) c.11535G>C (p.Lys3845Asn) c.11688G>C (p.Lys3896Asn) c.10593G>C (p.Lys3531Asn) c.*14G>C (n.*14G>C) c.6777G>C (p.Lys2259Asn) c.6330G>C (p.Lys2110Asn) c.5667G>C (p.Lys1889Asn) c.10182G>C (p.Lys3394Asn) | |
5 | g.13735312C>T | CA443260106 | DNAH5 | c.11580G>A (p.Lys3860=) c.11535G>A (p.Lys3845=) c.11688G>A (p.Lys3896=) c.10593G>A (p.Lys3531=) c.*14G>A (n.*14G>A) c.6777G>A (p.Lys2259=) c.6330G>A (p.Lys2110=) c.5667G>A (p.Lys1889=) c.10182G>A (p.Lys3394=) | gnomAD v4 |
5 | g.13735313T>A | CA359223712 | DNAH5 | c.11579A>T (p.Lys3860Met) c.11534A>T (p.Lys3845Met) c.11687A>T (p.Lys3896Met) c.10592A>T (p.Lys3531Met) c.*13A>T (n.*13A>T) c.6776A>T (p.Lys2259Met) c.6329A>T (p.Lys2110Met) c.5666A>T (p.Lys1889Met) c.10181A>T (p.Lys3394Met) | |
5 | g.13735313T>C | CA359223725 | DNAH5 | c.11579A>G (p.Lys3860Arg) c.11534A>G (p.Lys3845Arg) c.11687A>G (p.Lys3896Arg) c.10592A>G (p.Lys3531Arg) c.*13A>G (n.*13A>G) c.6776A>G (p.Lys2259Arg) c.6329A>G (p.Lys2110Arg) c.5666A>G (p.Lys1889Arg) c.10181A>G (p.Lys3394Arg) | |
5 | g.13735313T>G | CA359223711 | DNAH5 | c.11579A>C (p.Lys3860Thr) c.11534A>C (p.Lys3845Thr) c.11687A>C (p.Lys3896Thr) c.10592A>C (p.Lys3531Thr) c.*13A>C (n.*13A>C) c.6776A>C (p.Lys2259Thr) c.6329A>C (p.Lys2110Thr) c.5666A>C (p.Lys1889Thr) c.10181A>C (p.Lys3394Thr) | |
5 | g.13735314T>A | CA359223727 | DNAH5 | c.11578A>T (p.Lys3860Ter) c.11533A>T (p.Lys3845Ter) c.11686A>T (p.Lys3896Ter) c.10591A>T (p.Lys3531Ter) c.*12A>T (n.*12A>T) c.6775A>T (p.Lys2259Ter) c.6328A>T (p.Lys2110Ter) c.5665A>T (p.Lys1889Ter) c.10180A>T (p.Lys3394Ter) | |
5 | g.13735314T>C | CA359223730 | DNAH5 | c.11578A>G (p.Lys3860Glu) c.11533A>G (p.Lys3845Glu) c.11686A>G (p.Lys3896Glu) c.10591A>G (p.Lys3531Glu) c.*12A>G (n.*12A>G) c.6775A>G (p.Lys2259Glu) c.6328A>G (p.Lys2110Glu) c.5665A>G (p.Lys1889Glu) c.10180A>G (p.Lys3394Glu) | |
5 | g.13735314T>G | CA359223733 | DNAH5 | c.11578A>C (p.Lys3860Gln) c.11533A>C (p.Lys3845Gln) c.11686A>C (p.Lys3896Gln) c.10591A>C (p.Lys3531Gln) c.*12A>C (n.*12A>C) c.6775A>C (p.Lys2259Gln) c.6328A>C (p.Lys2110Gln) c.5665A>C (p.Lys1889Gln) c.10180A>C (p.Lys3394Gln) | |
5 | g.13735315G>A | CA443260108 | DNAH5 | c.11577C>T (p.Val3859=) c.11532C>T (p.Val3844=) c.11685C>T (p.Val3895=) c.10590C>T (p.Val3530=) c.*11C>T (n.*11C>T) c.6774C>T (p.Val2258=) c.6327C>T (p.Val2109=) c.5664C>T (p.Val1888=) c.10179C>T (p.Val3393=) | |
5 | g.13735315G>C | CA3201901 | DNAH5 | c.11577C>G (p.Val3859=) c.11532C>G (p.Val3844=) c.11685C>G (p.Val3895=) c.10590C>G (p.Val3530=) c.*11C>G (n.*11C>G) c.6774C>G (p.Val2258=) c.6327C>G (p.Val2109=) c.5664C>G (p.Val1888=) c.10179C>G (p.Val3393=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735315G= | CA1528414876 | DNAH5 | c.11577C= (p.Val3859=) c.11532C= (p.Val3844=) c.11685C= (p.Val3895=) c.10590C= (p.Val3530=) c.*11C= (n.*11C=) c.6774C= (p.Val2258=) c.6327C= (p.Val2109=) c.5664C= (p.Val1888=) c.10179C= (p.Val3393=) | |
5 | g.13735315G>T | CA443260109 | DNAH5 | c.11577C>A (p.Val3859=) c.11532C>A (p.Val3844=) c.11685C>A (p.Val3895=) c.10590C>A (p.Val3530=) c.*11C>A (n.*11C>A) c.6774C>A (p.Val2258=) c.6327C>A (p.Val2109=) c.5664C>A (p.Val1888=) c.10179C>A (p.Val3393=) | |
5 | g.13735316A>C | CA359223747 | DNAH5 | c.11576T>G (p.Val3859Gly) c.11531T>G (p.Val3844Gly) c.11684T>G (p.Val3895Gly) c.10589T>G (p.Val3530Gly) c.*10T>G (n.*10T>G) c.6773T>G (p.Val2258Gly) c.6326T>G (p.Val2109Gly) c.5663T>G (p.Val1888Gly) c.10178T>G (p.Val3393Gly) | |
5 | g.13735316A>G | CA359223743 | DNAH5 | c.11576T>C (p.Val3859Ala) c.11531T>C (p.Val3844Ala) c.11684T>C (p.Val3895Ala) c.10589T>C (p.Val3530Ala) c.*10T>C (n.*10T>C) c.6773T>C (p.Val2258Ala) c.6326T>C (p.Val2109Ala) c.5663T>C (p.Val1888Ala) c.10178T>C (p.Val3393Ala) | |
5 | g.13735316A>T | CA359223739 | DNAH5 | c.11576T>A (p.Val3859Asp) c.11531T>A (p.Val3844Asp) c.11684T>A (p.Val3895Asp) c.10589T>A (p.Val3530Asp) c.*10T>A (n.*10T>A) c.6773T>A (p.Val2258Asp) c.6326T>A (p.Val2109Asp) c.5663T>A (p.Val1888Asp) c.10178T>A (p.Val3393Asp) | |
5 | g.13735317C>A | CA359223750 | DNAH5 | c.11575G>T (p.Val3859Phe) c.11530G>T (p.Val3844Phe) c.11683G>T (p.Val3895Phe) c.10588G>T (p.Val3530Phe) c.*9G>T (n.*9G>T) c.6772G>T (p.Val2258Phe) c.6325G>T (p.Val2109Phe) c.5662G>T (p.Val1888Phe) c.10177G>T (p.Val3393Phe) | |
5 | g.13735317C= | CA1528414877 | DNAH5 | c.11575G= (p.Val3859=) c.11530G= (p.Val3844=) c.11683G= (p.Val3895=) c.10588G= (p.Val3530=) c.*9G= (n.*9G=) c.6772G= (p.Val2258=) c.6325G= (p.Val2109=) c.5662G= (p.Val1888=) c.10177G= (p.Val3393=) | |
5 | g.13735317C>G | CA359223752 | DNAH5 | c.11575G>C (p.Val3859Leu) c.11530G>C (p.Val3844Leu) c.11683G>C (p.Val3895Leu) c.10588G>C (p.Val3530Leu) c.*9G>C (n.*9G>C) c.6772G>C (p.Val2258Leu) c.6325G>C (p.Val2109Leu) c.5662G>C (p.Val1888Leu) c.10177G>C (p.Val3393Leu) | dbSNP gnomAD v4 |
5 | g.13735317C>T | CA359223759 | DNAH5 | c.11575G>A (p.Val3859Ile) c.11530G>A (p.Val3844Ile) c.11683G>A (p.Val3895Ile) c.10588G>A (p.Val3530Ile) c.*9G>A (n.*9G>A) c.6772G>A (p.Val2258Ile) c.6325G>A (p.Val2109Ile) c.5662G>A (p.Val1888Ile) c.10177G>A (p.Val3393Ile) | gnomAD v4 |
5 | g.13735318A= | CA1528414878 | DNAH5 | c.11574T= (p.Ser3858=) c.11529T= (p.Ser3843=) c.11682T= (p.Ser3894=) c.10587T= (p.Ser3529=) c.*8T= (n.*8T=) c.6771T= (p.Ser2257=) c.6324T= (p.Ser2108=) c.5661T= (p.Ser1887=) c.10176T= (p.Ser3392=) | |
5 | g.13735318A>C | CA443260111 | DNAH5 | c.11574T>G (p.Ser3858=) c.11529T>G (p.Ser3843=) c.11682T>G (p.Ser3894=) c.10587T>G (p.Ser3529=) c.*8T>G (n.*8T>G) c.6771T>G (p.Ser2257=) c.6324T>G (p.Ser2108=) c.5661T>G (p.Ser1887=) c.10176T>G (p.Ser3392=) | |
5 | g.13735318A>G | CA3201902 | DNAH5 | c.11574T>C (p.Ser3858=) c.11529T>C (p.Ser3843=) c.11682T>C (p.Ser3894=) c.10587T>C (p.Ser3529=) c.*8T>C (n.*8T>C) c.6771T>C (p.Ser2257=) c.6324T>C (p.Ser2108=) c.5661T>C (p.Ser1887=) c.10176T>C (p.Ser3392=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735318A>T | CA443260112 | DNAH5 | c.11574T>A (p.Ser3858=) c.11529T>A (p.Ser3843=) c.11682T>A (p.Ser3894=) c.10587T>A (p.Ser3529=) c.*8T>A (n.*8T>A) c.6771T>A (p.Ser2257=) c.6324T>A (p.Ser2108=) c.5661T>A (p.Ser1887=) c.10176T>A (p.Ser3392=) | |
5 | g.13735319G>A | CA359223761 | DNAH5 | c.11573C>T (p.Ser3858Phe) c.11528C>T (p.Ser3843Phe) c.11681C>T (p.Ser3894Phe) c.10586C>T (p.Ser3529Phe) c.*7C>T (n.*7C>T) c.6770C>T (p.Ser2257Phe) c.6323C>T (p.Ser2108Phe) c.5660C>T (p.Ser1887Phe) c.10175C>T (p.Ser3392Phe) | gnomAD v4 |
5 | g.13735319G>C | CA359223762 | DNAH5 | c.11573C>G (p.Ser3858Cys) c.11528C>G (p.Ser3843Cys) c.11681C>G (p.Ser3894Cys) c.10586C>G (p.Ser3529Cys) c.*7C>G (n.*7C>G) c.6770C>G (p.Ser2257Cys) c.6323C>G (p.Ser2108Cys) c.5660C>G (p.Ser1887Cys) c.10175C>G (p.Ser3392Cys) | |
5 | g.13735319G>T | CA359223765 | DNAH5 | c.11573C>A (p.Ser3858Tyr) c.11528C>A (p.Ser3843Tyr) c.11681C>A (p.Ser3894Tyr) c.10586C>A (p.Ser3529Tyr) c.*7C>A (n.*7C>A) c.6770C>A (p.Ser2257Tyr) c.6323C>A (p.Ser2108Tyr) c.5660C>A (p.Ser1887Tyr) c.10175C>A (p.Ser3392Tyr) | |
5 | g.13735320A>C | CA359223769 | DNAH5 | c.11572T>G (p.Ser3858Ala) c.11527T>G (p.Ser3843Ala) c.11680T>G (p.Ser3894Ala) c.10585T>G (p.Ser3529Ala) c.*6T>G (n.*6T>G) c.6769T>G (p.Ser2257Ala) c.6322T>G (p.Ser2108Ala) c.5659T>G (p.Ser1887Ala) c.10174T>G (p.Ser3392Ala) | |
5 | g.13735320A>G | CA359223768 | DNAH5 | c.11572T>C (p.Ser3858Pro) c.11527T>C (p.Ser3843Pro) c.11680T>C (p.Ser3894Pro) c.10585T>C (p.Ser3529Pro) c.*6T>C (n.*6T>C) c.6769T>C (p.Ser2257Pro) c.6322T>C (p.Ser2108Pro) c.5659T>C (p.Ser1887Pro) c.10174T>C (p.Ser3392Pro) | gnomAD v4 |
5 | g.13735320A>T | CA359223767 | DNAH5 | c.11572T>A (p.Ser3858Thr) c.11527T>A (p.Ser3843Thr) c.11680T>A (p.Ser3894Thr) c.10585T>A (p.Ser3529Thr) c.*6T>A (n.*6T>A) c.6769T>A (p.Ser2257Thr) c.6322T>A (p.Ser2108Thr) c.5659T>A (p.Ser1887Thr) c.10174T>A (p.Ser3392Thr) | |
5 | g.13735321C>A | CA359223772 | DNAH5 | c.11571G>T (p.Arg3857Ser) c.11526G>T (p.Arg3842Ser) c.11679G>T (p.Arg3893Ser) c.10584G>T (p.Arg3528Ser) c.*5G>T (n.*5G>T) c.6768G>T (p.Arg2256Ser) c.6321G>T (p.Arg2107Ser) c.5658G>T (p.Arg1886Ser) c.10173G>T (p.Arg3391Ser) | gnomAD v4 COSMIC |
5 | g.13735321C= | CA1528414879 | DNAH5 | c.11571G= (p.Arg3857=) c.11526G= (p.Arg3842=) c.11679G= (p.Arg3893=) c.10584G= (p.Arg3528=) c.*5G= (n.*5G=) c.6768G= (p.Arg2256=) c.6321G= (p.Arg2107=) c.5658G= (p.Arg1886=) c.10173G= (p.Arg3391=) | |
5 | g.13735321C>G | CA359223775 | DNAH5 | c.11571G>C (p.Arg3857Ser) c.11526G>C (p.Arg3842Ser) c.11679G>C (p.Arg3893Ser) c.10584G>C (p.Arg3528Ser) c.*5G>C (n.*5G>C) c.6768G>C (p.Arg2256Ser) c.6321G>C (p.Arg2107Ser) c.5658G>C (p.Arg1886Ser) c.10173G>C (p.Arg3391Ser) | |
5 | g.13735321C>T | CA3201903 | DNAH5 | c.11571G>A (p.Arg3857=) c.11526G>A (p.Arg3842=) c.11679G>A (p.Arg3893=) c.10584G>A (p.Arg3528=) c.*5G>A (n.*5G>A) c.6768G>A (p.Arg2256=) c.6321G>A (p.Arg2107=) c.5658G>A (p.Arg1886=) c.10173G>A (p.Arg3391=) | dbSNP ExAC gnomAD v2 |
5 | g.13735322C>A | CA359223779 | DNAH5 | c.11571-1G>T (n.11571-1G>T) c.11526-1G>T (n.11526-1G>T) c.11679-1G>T (n.11679-1G>T) c.10584-1G>T (n.10584-1G>T) c.*5-1G>T (n.*5-1G>T) c.6768-1G>T (n.6768-1G>T) c.6321-1G>T (n.6321-1G>T) c.5658-1G>T (n.5658-1G>T) c.10173-1G>T (n.10173-1G>T) | |
5 | g.13735322C= | CA1528414880 | DNAH5 | c.11571-1G= (n.11571-1G=) c.11526-1G= (n.11526-1G=) c.11679-1G= (n.11679-1G=) c.10584-1G= (n.10584-1G=) c.*5-1G= (n.*5-1G=) c.6768-1G= (n.6768-1G=) c.6321-1G= (n.6321-1G=) c.5658-1G= (n.5658-1G=) c.10173-1G= (n.10173-1G=) | |
5 | g.13735322C>G | CA359223780 | DNAH5 | c.11571-1G>C (n.11571-1G>C) c.11526-1G>C (n.11526-1G>C) c.11679-1G>C (n.11679-1G>C) c.10584-1G>C (n.10584-1G>C) c.*5-1G>C (n.*5-1G>C) c.6768-1G>C (n.6768-1G>C) c.6321-1G>C (n.6321-1G>C) c.5658-1G>C (n.5658-1G>C) c.10173-1G>C (n.10173-1G>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13735322C>T | CA359223783 | DNAH5 | c.11571-1G>A (n.11571-1G>A) c.11526-1G>A (n.11526-1G>A) c.11679-1G>A (n.11679-1G>A) c.10584-1G>A (n.10584-1G>A) c.*5-1G>A (n.*5-1G>A) c.6768-1G>A (n.6768-1G>A) c.6321-1G>A (n.6321-1G>A) c.5658-1G>A (n.5658-1G>A) c.10173-1G>A (n.10173-1G>A) | ClinVar dbSNP gnomAD v4 COSMIC |
5 | g.13735323T>A | CA359223786 | DNAH5 | c.11571-2A>T (n.11571-2A>T) c.11526-2A>T (n.11526-2A>T) c.11679-2A>T (n.11679-2A>T) c.10584-2A>T (n.10584-2A>T) c.*5-2A>T (n.*5-2A>T) c.6768-2A>T (n.6768-2A>T) c.6321-2A>T (n.6321-2A>T) c.5658-2A>T (n.5658-2A>T) c.10173-2A>T (n.10173-2A>T) | |
5 | g.13735323T>C | CA359223787 | DNAH5 | c.11571-2A>G (n.11571-2A>G) c.11526-2A>G (n.11526-2A>G) c.11679-2A>G (n.11679-2A>G) c.10584-2A>G (n.10584-2A>G) c.*5-2A>G (n.*5-2A>G) c.6768-2A>G (n.6768-2A>G) c.6321-2A>G (n.6321-2A>G) c.5658-2A>G (n.5658-2A>G) c.10173-2A>G (n.10173-2A>G) | |
5 | g.13735323T>G | CA359223788 | DNAH5 | c.11571-2A>C (n.11571-2A>C) c.11526-2A>C (n.11526-2A>C) c.11679-2A>C (n.11679-2A>C) c.10584-2A>C (n.10584-2A>C) c.*5-2A>C (n.*5-2A>C) c.6768-2A>C (n.6768-2A>C) c.6321-2A>C (n.6321-2A>C) c.5658-2A>C (n.5658-2A>C) c.10173-2A>C (n.10173-2A>C) | |
5 | g.13735324G>A | CA1528414882 | DNAH5 | c.11571-3C>T (n.11571-3C>T) c.11526-3C>T (n.11526-3C>T) c.11679-3C>T (n.11679-3C>T) c.10584-3C>T (n.10584-3C>T) c.*5-3C>T (n.*5-3C>T) c.6768-3C>T (n.6768-3C>T) c.6321-3C>T (n.6321-3C>T) c.5658-3C>T (n.5658-3C>T) c.10173-3C>T (n.10173-3C>T) | dbSNP gnomAD v4 |
5 | g.13735324G= | CA1528414881 | DNAH5 | c.11571-3C= (n.11571-3C=) c.11526-3C= (n.11526-3C=) c.11679-3C= (n.11679-3C=) c.10584-3C= (n.10584-3C=) c.*5-3C= (n.*5-3C=) c.6768-3C= (n.6768-3C=) c.6321-3C= (n.6321-3C=) c.5658-3C= (n.5658-3C=) c.10173-3C= (n.10173-3C=) | |
5 | g.13735324G>T | CA2673267928 | DNAH5 | c.11571-3C>A (n.11571-3C>A) c.11526-3C>A (n.11526-3C>A) c.11679-3C>A (n.11679-3C>A) c.10584-3C>A (n.10584-3C>A) c.*5-3C>A (n.*5-3C>A) c.6768-3C>A (n.6768-3C>A) c.6321-3C>A (n.6321-3C>A) c.5658-3C>A (n.5658-3C>A) c.10173-3C>A (n.10173-3C>A) | gnomAD v4 |