Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.21748584C>A | CA366955042 | DNAH11 | c.8515C>A (p.Arg2839Ser) c.8536C>A (p.Arg2846Ser) | gnomAD v4 |
7 | g.21748584C= | CA1693661935 | DNAH11 | c.8515C= (p.Arg2839=) c.8536C= (p.Arg2846=) | |
7 | g.21748584C>G | CA366955043 | DNAH11 | c.8515C>G (p.Arg2839Gly) c.8536C>G (p.Arg2846Gly) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748584C>T | CA4181634 | DNAH11 | c.8515C>T (p.Arg2839Cys) c.8536C>T (p.Arg2846Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.21748585G>A | CA366955046 | DNAH11 | c.8516G>A (p.Arg2839His) c.8537G>A (p.Arg2846His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.21748585G>C | CA366955044 | DNAH11 | c.8516G>C (p.Arg2839Pro) c.8537G>C (p.Arg2846Pro) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21748585G= | CA1693661941 | DNAH11 | c.8516G= (p.Arg2839=) c.8537G= (p.Arg2846=) | |
7 | g.21748585G>T | CA366955045 | DNAH11 | c.8516G>T (p.Arg2839Leu) c.8537G>T (p.Arg2846Leu) | ClinVar dbSNP gnomAD v4 |
7 | g.21748586C>A | CA453968428 | DNAH11 | c.8517C>A (p.Arg2839=) c.8538C>A (p.Arg2846=) | gnomAD v4 |
7 | g.21748586C>G | CA453968429 | DNAH11 | c.8517C>G (p.Arg2839=) c.8538C>G (p.Arg2846=) | |
7 | g.21748586C>T | CA453968430 | DNAH11 | c.8517C>T (p.Arg2839=) c.8538C>T (p.Arg2846=) | ClinVar gnomAD v4 |
7 | g.21748587A>C | CA366955047 | DNAH11 | c.8518A>C (p.Ile2840Leu) c.8539A>C (p.Ile2847Leu) | |
7 | g.21748587A>G | CA366955048 | DNAH11 | c.8518A>G (p.Ile2840Val) c.8539A>G (p.Ile2847Val) | gnomAD v4 |
7 | g.21748587A>T | CA366955049 | DNAH11 | c.8518A>T (p.Ile2840Phe) c.8539A>T (p.Ile2847Phe) | |
7 | g.21748588T>A | CA366955050 | DNAH11 | c.8519T>A (p.Ile2840Asn) c.8540T>A (p.Ile2847Asn) | gnomAD v4 |
7 | g.21748588T>C | CA366955051 | DNAH11 | c.8519T>C (p.Ile2840Thr) c.8540T>C (p.Ile2847Thr) | |
7 | g.21748588T>G | CA366955052 | DNAH11 | c.8519T>G (p.Ile2840Ser) c.8540T>G (p.Ile2847Ser) | |
7 | g.21748589C>A | CA453968431 | DNAH11 | c.8520C>A (p.Ile2840=) c.8541C>A (p.Ile2847=) | gnomAD v4 |
7 | g.21748589C>G | CA366955053 | DNAH11 | c.8520C>G (p.Ile2840Met) c.8541C>G (p.Ile2847Met) | |
7 | g.21748589C>T | CA453968432 | DNAH11 | c.8520C>T (p.Ile2840=) c.8541C>T (p.Ile2847=) | |
7 | g.21748590A= | CA1693661957 | DNAH11 | c.8521A= (p.Ser2841=) c.8542A= (p.Ser2848=) | |
7 | g.21748590A>C | CA366955054 | DNAH11 | c.8521A>C (p.Ser2841Arg) c.8542A>C (p.Ser2848Arg) | |
7 | g.21748590A>G | CA4181635 | DNAH11 | c.8521A>G (p.Ser2841Gly) c.8542A>G (p.Ser2848Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748590A>T | CA366955055 | DNAH11 | c.8521A>T (p.Ser2841Cys) c.8542A>T (p.Ser2848Cys) | |
7 | g.21748591G>A | CA366955056 | DNAH11 | c.8522G>A (p.Ser2841Asn) c.8543G>A (p.Ser2848Asn) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748591G>C | CA366955057 | DNAH11 | c.8522G>C (p.Ser2841Thr) c.8543G>C (p.Ser2848Thr) | dbSNP |
7 | g.21748591G= | CA1693661964 | DNAH11 | c.8522G= (p.Ser2841=) c.8543G= (p.Ser2848=) | |
7 | g.21748591G>T | CA366955058 | DNAH11 | c.8522G>T (p.Ser2841Ile) c.8543G>T (p.Ser2848Ile) | gnomAD v4 |
7 | g.21748592C>A | CA366955059 | DNAH11 | c.8523C>A (p.Ser2841Arg) c.8544C>A (p.Ser2848Arg) | gnomAD v4 |
7 | g.21748592C>G | CA366955060 | DNAH11 | c.8523C>G (p.Ser2841Arg) c.8544C>G (p.Ser2848Arg) | |
7 | g.21748592C>T | CA453968433 | DNAH11 | c.8523C>T (p.Ser2841=) c.8544C>T (p.Ser2848=) | gnomAD v4 COSMIC COSMIC |
7 | g.21748593C>A | CA453968434 | DNAH11 | c.8524C>A (p.Arg2842=) c.8545C>A (p.Arg2849=) | |
7 | g.21748593C= | CA1693661969 | DNAH11 | c.8524C= (p.Arg2842=) c.8545C= (p.Arg2849=) | |
7 | g.21748593C>G | CA366955061 | DNAH11 | c.8524C>G (p.Arg2842Gly) c.8545C>G (p.Arg2849Gly) | dbSNP gnomAD v4 |
7 | g.21748593C>T | CA366955062 | DNAH11 | c.8524C>T (p.Arg2842Trp) c.8545C>T (p.Arg2849Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748594G>A | CA4181636 | DNAH11 | c.8525G>A (p.Arg2842Gln) c.8546G>A (p.Arg2849Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.21748594G>C | CA366955063 | DNAH11 | c.8525G>C (p.Arg2842Pro) c.8546G>C (p.Arg2849Pro) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21748594G= | CA1693661981 | DNAH11 | c.8525G= (p.Arg2842=) c.8546G= (p.Arg2849=) | |
7 | g.21748594G>T | CA366955064 | DNAH11 | c.8525G>T (p.Arg2842Leu) c.8546G>T (p.Arg2849Leu) | |
7 | g.21748595del | CA2681987055 | DNAH11 | c.8526del (p.Ile2843SerfsTer?) c.8547del (p.Ile2850SerfsTer?) | gnomAD v4 |
7 | g.21748595G>A | CA453968435 | DNAH11 | c.8526G>A (p.Arg2842=) c.8547G>A (p.Arg2849=) | gnomAD v4 |
7 | g.21748595G>C | CA453968436 | DNAH11 | c.8526G>C (p.Arg2842=) c.8547G>C (p.Arg2849=) | gnomAD v4 |
7 | g.21748595G>T | CA453968437 | DNAH11 | c.8526G>T (p.Arg2842=) c.8547G>T (p.Arg2849=) | |
7 | g.21748596A= | CA1693661987 | DNAH11 | c.8527A= (p.Ile2843=) c.8548A= (p.Ile2850=) | |
7 | g.21748596A>C | CA366955065 | DNAH11 | c.8527A>C (p.Ile2843Leu) c.8548A>C (p.Ile2850Leu) | |
7 | g.21748596A>G | CA4181637 | DNAH11 | c.8527A>G (p.Ile2843Val) c.8548A>G (p.Ile2850Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21748596A>T | CA366955066 | DNAH11 | c.8527A>T (p.Ile2843Phe) c.8548A>T (p.Ile2850Phe) | |
7 | g.21748597T>A | CA366955067 | DNAH11 | c.8528T>A (p.Ile2843Asn) c.8549T>A (p.Ile2850Asn) | |
7 | g.21748597T>C | CA366955069 | DNAH11 | c.8528T>C (p.Ile2843Thr) c.8549T>C (p.Ile2850Thr) | |
7 | g.21748597T>G | CA366955068 | DNAH11 | c.8528T>G (p.Ile2843Ser) c.8549T>G (p.Ile2850Ser) | |
7 | g.21748598C>A | CA453968438 | DNAH11 | c.8529C>A (p.Ile2843=) c.8550C>A (p.Ile2850=) | gnomAD v4 |
7 | g.21748598C>G | CA366955070 | DNAH11 | c.8529C>G (p.Ile2843Met) c.8550C>G (p.Ile2850Met) | |
7 | g.21748598C>T | CA453968439 | DNAH11 | c.8529C>T (p.Ile2843=) c.8550C>T (p.Ile2850=) | |
7 | g.21748599T>A | CA155121247 | DNAH11 | c.8530T>A (p.Leu2844Ile) c.8551T>A (p.Leu2851Ile) | dbSNP |
7 | g.21748599T>C | CA453968440 | DNAH11 | c.8530T>C (p.Leu2844=) c.8551T>C (p.Leu2851=) | gnomAD v4 |
7 | g.21748599T>G | CA366955071 | DNAH11 | c.8530T>G (p.Leu2844Val) c.8551T>G (p.Leu2851Val) | |
7 | g.21748599T= | CA1693661992 | DNAH11 | c.8530T= (p.Leu2844=) c.8551T= (p.Leu2851=) | |
7 | g.21748600T>A | CA366955072 | DNAH11 | c.8531T>A (p.Leu2844Ter) c.8552T>A (p.Leu2851Ter) | |
7 | g.21748600T>C | CA366955073 | DNAH11 | c.8531T>C (p.Leu2844Ser) c.8552T>C (p.Leu2851Ser) | gnomAD v4 |
7 | g.21748600T>G | CA366955074 | DNAH11 | c.8531T>G (p.Leu2844Ter) c.8552T>G (p.Leu2851Ter) | |
7 | g.21748601A>C | CA366955075 | DNAH11 | c.8532A>C (p.Leu2844Phe) c.8553A>C (p.Leu2851Phe) | |
7 | g.21748601A>G | CA453968441 | DNAH11 | c.8532A>G (p.Leu2844=) c.8553A>G (p.Leu2851=) | |
7 | g.21748601A>T | CA366955076 | DNAH11 | c.8532A>T (p.Leu2844Phe) c.8553A>T (p.Leu2851Phe) | |
7 | g.21748602C>A | CA16612080 | DNAH11 | c.8533C>A (p.Arg2845=) c.8554C>A (p.Arg2852=) | ClinVar dbSNP gnomAD v4 |
7 | g.21748602C= | CA1693662011 | DNAH11 | c.8533C= (p.Arg2845=) c.8554C= (p.Arg2852=) | |
7 | g.21748602C>G | CA4181638 | DNAH11 | c.8533C>G (p.Arg2845Gly) c.8554C>G (p.Arg2852Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748602C>T | CA340592 | DNAH11 | c.8533C>T (p.Arg2845Ter) c.8554C>T (p.Arg2852Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748603G>A | CA4181639 | DNAH11 | c.8534G>A (p.Arg2845Gln) c.8555G>A (p.Arg2852Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.21748603G>C | CA366955079 | DNAH11 | c.8534G>C (p.Arg2845Pro) c.8555G>C (p.Arg2852Pro) | |
7 | g.21748603G= | CA1693662021 | DNAH11 | c.8534G= (p.Arg2845=) c.8555G= (p.Arg2852=) | |
7 | g.21748603G>T | CA366955077 | DNAH11 | c.8534G>T (p.Arg2845Leu) c.8555G>T (p.Arg2852Leu) | |
7 | g.21748604A>C | CA453968444 | DNAH11 | c.8535A>C (p.Arg2845=) c.8556A>C (p.Arg2852=) | |
7 | g.21748604A>G | CA453968443 | DNAH11 | c.8535A>G (p.Arg2845=) c.8556A>G (p.Arg2852=) | |
7 | g.21748604A>T | CA453968442 | DNAH11 | c.8535A>T (p.Arg2845=) c.8556A>T (p.Arg2852=) | |
7 | g.21748605A= | CA1693662030 | DNAH11 | c.8536A= (p.Thr2846=) c.8557A= (p.Thr2853=) | |
7 | g.21748605A>C | CA366955080 | DNAH11 | c.8536A>C (p.Thr2846Pro) c.8557A>C (p.Thr2853Pro) | |
7 | g.21748605A>G | CA366955081 | DNAH11 | c.8536A>G (p.Thr2846Ala) c.8557A>G (p.Thr2853Ala) | gnomAD v4 |
7 | g.21748605A>T | CA4181640 | DNAH11 | c.8536A>T (p.Thr2846Ser) c.8557A>T (p.Thr2853Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21748606C>A | CA366955082 | DNAH11 | c.8537C>A (p.Thr2846Asn) c.8558C>A (p.Thr2853Asn) | gnomAD v4 |
7 | g.21748606C>G | CA366955083 | DNAH11 | c.8537C>G (p.Thr2846Ser) c.8558C>G (p.Thr2853Ser) | gnomAD v4 |
7 | g.21748606C>T | CA366955084 | DNAH11 | c.8537C>T (p.Thr2846Ile) c.8558C>T (p.Thr2853Ile) | gnomAD v4 |
7 | g.21748607C>A | CA453968447 | DNAH11 | c.8538C>A (p.Thr2846=) c.8559C>A (p.Thr2853=) | gnomAD v4 |
7 | g.21748607C>G | CA453968446 | DNAH11 | c.8538C>G (p.Thr2846=) c.8559C>G (p.Thr2853=) | |
7 | g.21748607C>T | CA453968445 | DNAH11 | c.8538C>T (p.Thr2846=) c.8559C>T (p.Thr2853=) | gnomAD v4 |
7 | g.21748608C>A | CA366955085 | DNAH11 | c.8539C>A (p.Pro2847Thr) c.8560C>A (p.Pro2854Thr) | gnomAD v4 |
7 | g.21748608C= | CA1693662035 | DNAH11 | c.8539C= (p.Pro2847=) c.8560C= (p.Pro2854=) | |
7 | g.21748608C>G | CA366955086 | DNAH11 | c.8539C>G (p.Pro2847Ala) c.8560C>G (p.Pro2854Ala) | ClinVar gnomAD v4 |
7 | g.21748608C>T | CA366955087 | DNAH11 | c.8539C>T (p.Pro2847Ser) c.8560C>T (p.Pro2854Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748609C>A | CA366955088 | DNAH11 | c.8540C>A (p.Pro2847His) c.8561C>A (p.Pro2854His) | gnomAD v4 |
7 | g.21748609C>G | CA366955089 | DNAH11 | c.8540C>G (p.Pro2847Arg) c.8561C>G (p.Pro2854Arg) | |
7 | g.21748609C>T | CA366955090 | DNAH11 | c.8540C>T (p.Pro2847Leu) c.8561C>T (p.Pro2854Leu) | |
7 | g.21748610T>A | CA453968448 | DNAH11 | c.8541T>A (p.Pro2847=) c.8562T>A (p.Pro2854=) | |
7 | g.21748610T>C | CA453968450 | DNAH11 | c.8541T>C (p.Pro2847=) c.8562T>C (p.Pro2854=) | |
7 | g.21748610T>G | CA453968449 | DNAH11 | c.8541T>G (p.Pro2847=) c.8562T>G (p.Pro2854=) | gnomAD v4 |
7 | g.21748611C>A | CA366955092 | DNAH11 | c.8542C>A (p.Gln2848Lys) c.8563C>A (p.Gln2855Lys) | |
7 | g.21748611C>G | CA366955093 | DNAH11 | c.8542C>G (p.Gln2848Glu) c.8563C>G (p.Gln2855Glu) | |
7 | g.21748611C>T | CA366955091 | DNAH11 | c.8542C>T (p.Gln2848Ter) c.8563C>T (p.Gln2855Ter) | |
7 | g.21748612A>C | CA366955094 | DNAH11 | c.8543A>C (p.Gln2848Pro) c.8564A>C (p.Gln2855Pro) | |
7 | g.21748612A>G | CA366955095 | DNAH11 | c.8543A>G (p.Gln2848Arg) c.8564A>G (p.Gln2855Arg) | |
7 | g.21748612A>T | CA366955096 | DNAH11 | c.8543A>T (p.Gln2848Leu) c.8564A>T (p.Gln2855Leu) | COSMIC COSMIC |
7 | g.21748613G>A | CA453968451 | DNAH11 | c.8544G>A (p.Gln2848=) c.8565G>A (p.Gln2855=) | |
7 | g.21748613G>C | CA366955097 | DNAH11 | c.8544G>C (p.Gln2848His) c.8565G>C (p.Gln2855His) | gnomAD v4 COSMIC COSMIC |
7 | g.21748613G>T | CA366955098 | DNAH11 | c.8544G>T (p.Gln2848His) c.8565G>T (p.Gln2855His) | |
7 | g.21748614G>A | CA366955100 | DNAH11 | c.8545G>A (p.Gly2849Ser) c.8566G>A (p.Gly2856Ser) | gnomAD v4 |
7 | g.21748614G>C | CA366955099 | DNAH11 | c.8545G>C (p.Gly2849Arg) c.8566G>C (p.Gly2856Arg) | |
7 | g.21748614G= | CA1693662038 | DNAH11 | c.8545G= (p.Gly2849=) c.8566G= (p.Gly2856=) | |
7 | g.21748614G>T | CA4181641 | DNAH11 | c.8545G>T (p.Gly2849Cys) c.8566G>T (p.Gly2856Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21748615G>A | CA366955101 | DNAH11 | c.8546G>A (p.Gly2849Asp) c.8567G>A (p.Gly2856Asp) | gnomAD v4 |
7 | g.21748615G>C | CA366955102 | DNAH11 | c.8546G>C (p.Gly2849Ala) c.8567G>C (p.Gly2856Ala) | |
7 | g.21748615G>T | CA366955103 | DNAH11 | c.8546G>T (p.Gly2849Val) c.8567G>T (p.Gly2856Val) | |
7 | g.21748616C>A | CA453968452 | DNAH11 | c.8547C>A (p.Gly2849=) c.8568C>A (p.Gly2856=) | dbSNP |
7 | g.21748616C= | CA1693662041 | DNAH11 | c.8547C= (p.Gly2849=) c.8568C= (p.Gly2856=) | |
7 | g.21748616C>G | CA453968453 | DNAH11 | c.8547C>G (p.Gly2849=) c.8568C>G (p.Gly2856=) | |
7 | g.21748616C>T | CA453968454 | DNAH11 | c.8547C>T (p.Gly2849=) c.8568C>T (p.Gly2856=) | |
7 | g.21748617T>A | CA366955104 | DNAH11 | c.8548T>A (p.Cys2850Ser) c.8569T>A (p.Cys2857Ser) | |
7 | g.21748617T>C | CA366955105 | DNAH11 | c.8548T>C (p.Cys2850Arg) c.8569T>C (p.Cys2857Arg) | |
7 | g.21748617T>G | CA366955106 | DNAH11 | c.8548T>G (p.Cys2850Gly) c.8569T>G (p.Cys2857Gly) | |
7 | g.21748618G>A | CA4181642 | DNAH11 | c.8549G>A (p.Cys2850Tyr) c.8570G>A (p.Cys2857Tyr) | dbSNP ExAC gnomAD v2 |
7 | g.21748618G>C | CA366955108 | DNAH11 | c.8549G>C (p.Cys2850Ser) c.8570G>C (p.Cys2857Ser) | |
7 | g.21748618G= | CA1693662044 | DNAH11 | c.8549G= (p.Cys2850=) c.8570G= (p.Cys2857=) | |
7 | g.21748618G>T | CA366955107 | DNAH11 | c.8549G>T (p.Cys2850Phe) c.8570G>T (p.Cys2857Phe) | |
7 | g.21748619T>A | CA366955109 | DNAH11 | c.8550T>A (p.Cys2850Ter) c.8571T>A (p.Cys2857Ter) | |
7 | g.21748619T>C | CA155121256 | DNAH11 | c.8550T>C (p.Cys2850=) c.8571T>C (p.Cys2857=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748619T>G | CA366955110 | DNAH11 | c.8550T>G (p.Cys2850Trp) c.8571T>G (p.Cys2857Trp) | |
7 | g.21748619T= | CA1693662047 | DNAH11 | c.8550T= (p.Cys2850=) c.8571T= (p.Cys2857=) | |
7 | g.21748620_21748622del | CA2578843334 | DNAH11 | c.8551_8553del (p.Ala2851del) c.8572_8574del (p.Ala2858del) | |
7 | g.21748620G>A | CA366955111 | DNAH11 | c.8551G>A (p.Ala2851Thr) c.8572G>A (p.Ala2858Thr) | gnomAD v4 COSMIC COSMIC |
7 | g.21748620G>C | CA366955112 | DNAH11 | c.8551G>C (p.Ala2851Pro) c.8572G>C (p.Ala2858Pro) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21748620G= | CA1693662051 | DNAH11 | c.8551G= (p.Ala2851=) c.8572G= (p.Ala2858=) | |
7 | g.21748620G>T | CA366955113 | DNAH11 | c.8551G>T (p.Ala2851Ser) c.8572G>T (p.Ala2858Ser) | |
7 | g.21748621C>A | CA366955114 | DNAH11 | c.8552C>A (p.Ala2851Asp) c.8573C>A (p.Ala2858Asp) | |
7 | g.21748621C= | CA1693662059 | DNAH11 | c.8552C= (p.Ala2851=) c.8573C= (p.Ala2858=) | |
7 | g.21748621C>G | CA4181643 | DNAH11 | c.8552C>G (p.Ala2851Gly) c.8573C>G (p.Ala2858Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748621C>T | CA366955115 | DNAH11 | c.8552C>T (p.Ala2851Val) c.8573C>T (p.Ala2858Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748622T>A | CA453968457 | DNAH11 | c.8553T>A (p.Ala2851=) c.8574T>A (p.Ala2858=) | |
7 | g.21748622T>C | CA453968458 | DNAH11 | c.8553T>C (p.Ala2851=) c.8574T>C (p.Ala2858=) | |
7 | g.21748622T>G | CA453968460 | DNAH11 | c.8553T>G (p.Ala2851=) c.8574T>G (p.Ala2858=) | ClinVar dbSNP |
7 | g.21748623C>A | CA366955116 | DNAH11 | c.8554C>A (p.Leu2852Ile) c.8575C>A (p.Leu2859Ile) | |
7 | g.21748623C= | CA1693662065 | DNAH11 | c.8554C= (p.Leu2852=) c.8575C= (p.Leu2859=) | |
7 | g.21748623C>G | CA366955117 | DNAH11 | c.8554C>G (p.Leu2852Val) c.8575C>G (p.Leu2859Val) | ClinVar dbSNP |
7 | g.21748623C>T | CA366955118 | DNAH11 | c.8554C>T (p.Leu2852Phe) c.8575C>T (p.Leu2859Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748624T>A | CA4181644 | DNAH11 | c.8555T>A (p.Leu2852His) c.8576T>A (p.Leu2859His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21748624T>C | CA366955119 | DNAH11 | c.8555T>C (p.Leu2852Pro) c.8576T>C (p.Leu2859Pro) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748624T>G | CA366955120 | DNAH11 | c.8555T>G (p.Leu2852Arg) c.8576T>G (p.Leu2859Arg) | |
7 | g.21748624T= | CA1693662073 | DNAH11 | c.8555T= (p.Leu2852=) c.8576T= (p.Leu2859=) | |
7 | g.21748625C>A | CA453968465 | DNAH11 | c.8556C>A (p.Leu2852=) c.8577C>A (p.Leu2859=) | |
7 | g.21748625C>G | CA453968467 | DNAH11 | c.8556C>G (p.Leu2852=) c.8577C>G (p.Leu2859=) | |
7 | g.21748625C>T | CA453968463 | DNAH11 | c.8556C>T (p.Leu2852=) c.8577C>T (p.Leu2859=) | |
7 | g.21748626T>A | CA366955122 | DNAH11 | c.8557T>A (p.Leu2853Met) c.8578T>A (p.Leu2860Met) | |
7 | g.21748626T>C | CA453968469 | DNAH11 | c.8557T>C (p.Leu2853=) c.8578T>C (p.Leu2860=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748626T>G | CA366955121 | DNAH11 | c.8557T>G (p.Leu2853Val) c.8578T>G (p.Leu2860Val) | |
7 | g.21748626T= | CA1693662076 | DNAH11 | c.8557T= (p.Leu2853=) c.8578T= (p.Leu2860=) | |
7 | g.21748627T>A | CA366955123 | DNAH11 | c.8558T>A (p.Leu2853Ter) c.8579T>A (p.Leu2860Ter) | |
7 | g.21748627T>C | CA155121273 | DNAH11 | c.8558T>C (p.Leu2853Ser) c.8579T>C (p.Leu2860Ser) | ClinVar dbSNP gnomAD v4 |
7 | g.21748627T>G | CA366955124 | DNAH11 | c.8558T>G (p.Leu2853Trp) c.8579T>G (p.Leu2860Trp) | ClinVar dbSNP |
7 | g.21748627T= | CA1693662079 | DNAH11 | c.8558T= (p.Leu2853=) c.8579T= (p.Leu2860=) | |
7 | g.21748628G>A | CA453968470 | DNAH11 | c.8559G>A (p.Leu2853=) c.8580G>A (p.Leu2860=) | ClinVar |
7 | g.21748628G>C | CA366955125 | DNAH11 | c.8559G>C (p.Leu2853Phe) c.8580G>C (p.Leu2860Phe) | |
7 | g.21748628G>T | CA366955126 | DNAH11 | c.8559G>T (p.Leu2853Phe) c.8580G>T (p.Leu2860Phe) | COSMIC |
7 | g.21748629G>A | CA366955129 | DNAH11 | c.8560G>A (p.Val2854Ile) c.8581G>A (p.Val2861Ile) | |
7 | g.21748629G>C | CA366955128 | DNAH11 | c.8560G>C (p.Val2854Leu) c.8581G>C (p.Val2861Leu) | |
7 | g.21748629G= | CA1693662085 | DNAH11 | c.8560G= (p.Val2854=) c.8581G= (p.Val2861=) | |
7 | g.21748629G>T | CA366955127 | DNAH11 | c.8560G>T (p.Val2854Phe) c.8581G>T (p.Val2861Phe) | ClinVar dbSNP |
7 | g.21748630T>A | CA366955130 | DNAH11 | c.8561T>A (p.Val2854Asp) c.8582T>A (p.Val2861Asp) | |
7 | g.21748630T>C | CA366955131 | DNAH11 | c.8561T>C (p.Val2854Ala) c.8582T>C (p.Val2861Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748630T>G | CA366955132 | DNAH11 | c.8561T>G (p.Val2854Gly) c.8582T>G (p.Val2861Gly) | |
7 | g.21748630T= | CA1693662094 | DNAH11 | c.8561T= (p.Val2854=) c.8582T= (p.Val2861=) | |
7 | g.21748631T>A | CA453968473 | DNAH11 | c.8562T>A (p.Val2854=) c.8583T>A (p.Val2861=) | |
7 | g.21748631T>C | CA453968476 | DNAH11 | c.8562T>C (p.Val2854=) c.8583T>C (p.Val2861=) | |
7 | g.21748631T>G | CA453968475 | DNAH11 | c.8562T>G (p.Val2854=) c.8583T>G (p.Val2861=) | |
7 | g.21748632G>A | CA16612081 | DNAH11 | c.8563G>A (p.Gly2855Arg) c.8584G>A (p.Gly2862Arg) | ClinVar dbSNP |
7 | g.21748632G>C | CA366955133 | DNAH11 | c.8563G>C (p.Gly2855Arg) c.8584G>C (p.Gly2862Arg) | |
7 | g.21748632G= | CA1693662097 | DNAH11 | c.8563G= (p.Gly2855=) c.8584G= (p.Gly2862=) | |
7 | g.21748632G>T | CA366955134 | DNAH11 | c.8563G>T (p.Gly2855Ter) c.8584G>T (p.Gly2862Ter) | |
7 | g.21748633G>A | CA366955135 | DNAH11 | c.8564G>A (p.Gly2855Glu) c.8585G>A (p.Gly2862Glu) | gnomAD v4 |
7 | g.21748633G>C | CA366955137 | DNAH11 | c.8564G>C (p.Gly2855Ala) c.8585G>C (p.Gly2862Ala) | |
7 | g.21748633G>T | CA366955136 | DNAH11 | c.8564G>T (p.Gly2855Val) c.8585G>T (p.Gly2862Val) | |
7 | g.21748634A>C | CA453968478 | DNAH11 | c.8565A>C (p.Gly2855=) c.8586A>C (p.Gly2862=) | |
7 | g.21748634A>G | CA453968479 | DNAH11 | c.8565A>G (p.Gly2855=) c.8586A>G (p.Gly2862=) | |
7 | g.21748634A>T | CA453968480 | DNAH11 | c.8565A>T (p.Gly2855=) c.8586A>T (p.Gly2862=) | |
7 | g.21748635G>A | CA366955138 | DNAH11 | c.8566G>A (p.Val2856Ile) c.8587G>A (p.Val2863Ile) | |
7 | g.21748635G>C | CA366955139 | DNAH11 | c.8566G>C (p.Val2856Leu) c.8587G>C (p.Val2863Leu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748635G= | CA1693662098 | DNAH11 | c.8566G= (p.Val2856=) c.8587G= (p.Val2863=) | |
7 | g.21748635G>T | CA366955140 | DNAH11 | c.8566G>T (p.Val2856Phe) c.8587G>T (p.Val2863Phe) | |
7 | g.21748636T>A | CA366955141 | DNAH11 | c.8567T>A (p.Val2856Asp) c.8588T>A (p.Val2863Asp) | ClinVar |
7 | g.21748636T>C | CA4181645 | DNAH11 | c.8567T>C (p.Val2856Ala) c.8588T>C (p.Val2863Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21748636T>G | CA366955142 | DNAH11 | c.8567T>G (p.Val2856Gly) c.8588T>G (p.Val2863Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748636T= | CA1693662099 | DNAH11 | c.8567T= (p.Val2856=) c.8588T= (p.Val2863=) | |
7 | g.21748637T>A | CA453968483 | DNAH11 | c.8568T>A (p.Val2856=) c.8589T>A (p.Val2863=) | |
7 | g.21748637T>C | CA453968484 | DNAH11 | c.8568T>C (p.Val2856=) c.8589T>C (p.Val2863=) | |
7 | g.21748637T>G | CA453968485 | DNAH11 | c.8568T>G (p.Val2856=) c.8589T>G (p.Val2863=) | |
7 | g.21748638G>A | CA366955144 | DNAH11 | c.8569G>A (p.Gly2857Arg) c.8590G>A (p.Gly2864Arg) | gnomAD v4 |
7 | g.21748638G>C | CA366955145 | DNAH11 | c.8569G>C (p.Gly2857Arg) c.8590G>C (p.Gly2864Arg) | |
7 | g.21748638G>T | CA366955146 | DNAH11 | c.8569G>T (p.Gly2857Trp) c.8590G>T (p.Gly2864Trp) | |
7 | g.21748642dup | CA2832550797 | DNAH11 | c.8573dup (p.Ser2859GlnfsTer17) c.8594dup (p.Ser2866GlnfsTer17) | |
7 | g.21748639G>A | CA366955148 | DNAH11 | c.8570G>A (p.Gly2857Glu) c.8591G>A (p.Gly2864Glu) | |
7 | g.21748639G>C | CA4181646 | DNAH11 | c.8570G>C (p.Gly2857Ala) c.8591G>C (p.Gly2864Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748639G= | CA1693662100 | DNAH11 | c.8570G= (p.Gly2857=) c.8591G= (p.Gly2864=) | |
7 | g.21748639G>T | CA366955150 | DNAH11 | c.8570G>T (p.Gly2857Val) c.8591G>T (p.Gly2864Val) | |
7 | g.21748640G>A | CA453968488 | DNAH11 | c.8571G>A (p.Gly2857=) c.8592G>A (p.Gly2864=) | |
7 | g.21748640G>C | CA453968489 | DNAH11 | c.8571G>C (p.Gly2857=) c.8592G>C (p.Gly2864=) | |
7 | g.21748640G>T | CA453968490 | DNAH11 | c.8571G>T (p.Gly2857=) c.8592G>T (p.Gly2864=) | |
7 | g.21748641G>A | CA4181647 | DNAH11 | c.8572G>A (p.Gly2858Ser) c.8593G>A (p.Gly2865Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748641G>C | CA366955154 | DNAH11 | c.8572G>C (p.Gly2858Arg) c.8593G>C (p.Gly2865Arg) | |
7 | g.21748641G= | CA1693662101 | DNAH11 | c.8572G= (p.Gly2858=) c.8593G= (p.Gly2865=) | |
7 | g.21748641G>T | CA366955152 | DNAH11 | c.8572G>T (p.Gly2858Cys) c.8593G>T (p.Gly2865Cys) | |
7 | g.21748642G>A | CA4181649 | DNAH11 | c.8573G>A (p.Gly2858Asp) c.8594G>A (p.Gly2865Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.21748642G>C | CA366955159 | DNAH11 | c.8573G>C (p.Gly2858Ala) c.8594G>C (p.Gly2865Ala) | gnomAD v4 |
7 | g.21748642G= | CA1693662102 | DNAH11 | c.8573G= (p.Gly2858=) c.8594G= (p.Gly2865=) | |
7 | g.21748642G>T | CA4181648 | DNAH11 | c.8573G>T (p.Gly2858Val) c.8594G>T (p.Gly2865Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21748643C>A | CA453968491 | DNAH11 | c.8574C>A (p.Gly2858=) c.8595C>A (p.Gly2865=) | |
7 | g.21748643C>G | CA453968493 | DNAH11 | c.8574C>G (p.Gly2858=) c.8595C>G (p.Gly2865=) | |
7 | g.21748643C>T | CA453968494 | DNAH11 | c.8574C>T (p.Gly2858=) c.8595C>T (p.Gly2865=) | COSMIC COSMIC |
7 | g.21748644A>C | CA366955160 | DNAH11 | c.8575A>C (p.Ser2859Arg) c.8596A>C (p.Ser2866Arg) | |
7 | g.21748644A>G | CA366955161 | DNAH11 | c.8575A>G (p.Ser2859Gly) c.8596A>G (p.Ser2866Gly) | gnomAD v4 |
7 | g.21748644A>T | CA366955163 | DNAH11 | c.8575A>T (p.Ser2859Cys) c.8596A>T (p.Ser2866Cys) | |
7 | g.21748645G>A | CA366955165 | DNAH11 | c.8576G>A (p.Ser2859Asn) c.8597G>A (p.Ser2866Asn) | |
7 | g.21748645G>C | CA366955167 | DNAH11 | c.8576G>C (p.Ser2859Thr) c.8597G>C (p.Ser2866Thr) | gnomAD v4 |
7 | g.21748645G= | CA1693662103 | DNAH11 | c.8576G= (p.Ser2859=) c.8597G= (p.Ser2866=) | |
7 | g.21748645G>T | CA4181650 | DNAH11 | c.8576G>T (p.Ser2859Ile) c.8597G>T (p.Ser2866Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748646T>A | CA366955171 | DNAH11 | c.8577T>A (p.Ser2859Arg) c.8598T>A (p.Ser2866Arg) | |
7 | g.21748646T>C | CA4181651 | DNAH11 | c.8577T>C (p.Ser2859=) c.8598T>C (p.Ser2866=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748646T>G | CA366955174 | DNAH11 | c.8577T>G (p.Ser2859Arg) c.8598T>G (p.Ser2866Arg) | |
7 | g.21748646T= | CA1693662104 | DNAH11 | c.8577T= (p.Ser2859=) c.8598T= (p.Ser2866=) | |
7 | g.21748647G>A | CA4181652 | DNAH11 | c.8578G>A (p.Gly2860Ser) c.8599G>A (p.Gly2867Ser) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
7 | g.21748647G>C | CA366955177 | DNAH11 | c.8578G>C (p.Gly2860Arg) c.8599G>C (p.Gly2867Arg) | |
7 | g.21748647G= | CA1693662105 | DNAH11 | c.8578G= (p.Gly2860=) c.8599G= (p.Gly2867=) | |
7 | g.21748647G>T | CA366955176 | DNAH11 | c.8578G>T (p.Gly2860Cys) c.8599G>T (p.Gly2867Cys) | |
7 | g.21748648G>A | CA4181653 | DNAH11 | c.8579G>A (p.Gly2860Asp) c.8600G>A (p.Gly2867Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21748648G>C | CA366955180 | DNAH11 | c.8579G>C (p.Gly2860Ala) c.8600G>C (p.Gly2867Ala) | |
7 | g.21748648G= | CA1693662106 | DNAH11 | c.8579G= (p.Gly2860=) c.8600G= (p.Gly2867=) | |
7 | g.21748648G>T | CA366955179 | DNAH11 | c.8579G>T (p.Gly2860Val) c.8600G>T (p.Gly2867Val) | ClinVar gnomAD v4 |
7 | g.21748648_21748651delinsACAG | CA16612218 | DNAH11 | c.8579_8582delinsACAG (p.Gly2860_Lys2861delinsAspArg) c.8600_8603delinsACAG (p.Gly2867_Lys2868delinsAspArg) | ClinVar dbSNP |
7 | g.21748648_21748651delinsGCAA | CA1693662107 | DNAH11 | c.8579_8582delinsGCAA (p.Gly2860=) c.8600_8603delinsGCAA (p.Gly2867=) | |
7 | g.21748649C>A | CA453968498 | DNAH11 | c.8580C>A (p.Gly2860=) c.8601C>A (p.Gly2867=) | |
7 | g.21748649C= | CA1693662108 | DNAH11 | c.8580C= (p.Gly2860=) c.8601C= (p.Gly2867=) | |
7 | g.21748649C>G | CA155121328 | DNAH11 | c.8580C>G (p.Gly2860=) c.8601C>G (p.Gly2867=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21748649C>T | CA4181654 | DNAH11 | c.8580C>T (p.Gly2860=) c.8601C>T (p.Gly2867=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748650A>C | CA366955181 | DNAH11 | c.8581A>C (p.Lys2861Gln) c.8602A>C (p.Lys2868Gln) | |
7 | g.21748650A>G | CA366955182 | DNAH11 | c.8581A>G (p.Lys2861Glu) c.8602A>G (p.Lys2868Glu) | |
7 | g.21748650A>T | CA366955183 | DNAH11 | c.8581A>T (p.Lys2861Ter) c.8602A>T (p.Lys2868Ter) | gnomAD v4 |
7 | g.21748651A>C | CA366955185 | DNAH11 | c.8582A>C (p.Lys2861Thr) c.8603A>C (p.Lys2868Thr) | |
7 | g.21748651A>G | CA366955190 | DNAH11 | c.8582A>G (p.Lys2861Arg) c.8603A>G (p.Lys2868Arg) | |
7 | g.21748651A>T | CA366955193 | DNAH11 | c.8582A>T (p.Lys2861Met) c.8603A>T (p.Lys2868Met) | |
7 | g.21748652G>A | CA453968503 | DNAH11 | c.8583G>A (p.Lys2861=) c.8604G>A (p.Lys2868=) | gnomAD v4 |
7 | g.21748652G>C | CA366955197 | DNAH11 | c.8583G>C (p.Lys2861Asn) c.8604G>C (p.Lys2868Asn) | |
7 | g.21748652G>T | CA366955201 | DNAH11 | c.8583G>T (p.Lys2861Asn) c.8604G>T (p.Lys2868Asn) | |
7 | g.21748653C>A | CA366955204 | DNAH11 | c.8584C>A (p.Gln2862Lys) c.8605C>A (p.Gln2869Lys) | |
7 | g.21748653C>G | CA366955205 | DNAH11 | c.8584C>G (p.Gln2862Glu) c.8605C>G (p.Gln2869Glu) | |
7 | g.21748653C>T | CA366955207 | DNAH11 | c.8584C>T (p.Gln2862Ter) c.8605C>T (p.Gln2869Ter) | |
7 | g.21748654A>C | CA366955209 | DNAH11 | c.8585A>C (p.Gln2862Pro) c.8606A>C (p.Gln2869Pro) | |
7 | g.21748654A>G | CA366955213 | DNAH11 | c.8585A>G (p.Gln2862Arg) c.8606A>G (p.Gln2869Arg) | |
7 | g.21748654A>T | CA366955211 | DNAH11 | c.8585A>T (p.Gln2862Leu) c.8606A>T (p.Gln2869Leu) | |
7 | g.21748655G>A | CA453968507 | DNAH11 | c.8586G>A (p.Gln2862=) c.8607G>A (p.Gln2869=) | |
7 | g.21748655G>C | CA366955216 | DNAH11 | c.8586G>C (p.Gln2862His) c.8607G>C (p.Gln2869His) | dbSNP |
7 | g.21748655G= | CA1693662109 | DNAH11 | c.8586G= (p.Gln2862=) c.8607G= (p.Gln2869=) | |
7 | g.21748655G>T | CA366955218 | DNAH11 | c.8586G>T (p.Gln2862His) c.8607G>T (p.Gln2869His) | |
7 | g.21748656A= | CA1693662110 | DNAH11 | c.8587A= (p.Ser2863=) c.8608A= (p.Ser2870=) | |
7 | g.21748656A>C | CA366955221 | DNAH11 | c.8587A>C (p.Ser2863Arg) c.8608A>C (p.Ser2870Arg) | |
7 | g.21748656A>G | CA366955223 | DNAH11 | c.8587A>G (p.Ser2863Gly) c.8608A>G (p.Ser2870Gly) | dbSNP |
7 | g.21748656A>T | CA366955224 | DNAH11 | c.8587A>T (p.Ser2863Cys) c.8608A>T (p.Ser2870Cys) | |
7 | g.21748657G>A | CA366955227 | DNAH11 | c.8588G>A (p.Ser2863Asn) c.8609G>A (p.Ser2870Asn) | |
7 | g.21748657G>C | CA4181655 | DNAH11 | c.8588G>C (p.Ser2863Thr) c.8609G>C (p.Ser2870Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21748657G= | CA1693662111 | DNAH11 | c.8588G= (p.Ser2863=) c.8609G= (p.Ser2870=) | |
7 | g.21748657G>T | CA366955229 | DNAH11 | c.8588G>T (p.Ser2863Ile) c.8609G>T (p.Ser2870Ile) | |
7 | g.21748658C>A | CA366955231 | DNAH11 | c.8589C>A (p.Ser2863Arg) c.8610C>A (p.Ser2870Arg) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21748658C= | CA1693662112 | DNAH11 | c.8589C= (p.Ser2863=) c.8610C= (p.Ser2870=) | |
7 | g.21748658C>G | CA4181656 | DNAH11 | c.8589C>G (p.Ser2863Arg) c.8610C>G (p.Ser2870Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748658C>T | CA453968513 | DNAH11 | c.8589C>T (p.Ser2863=) c.8610C>T (p.Ser2870=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748659T>A | CA366955232 | DNAH11 | c.8590T>A (p.Leu2864Met) c.8611T>A (p.Leu2871Met) | |
7 | g.21748659T>C | CA453968514 | DNAH11 | c.8590T>C (p.Leu2864=) c.8611T>C (p.Leu2871=) | |
7 | g.21748659T>G | CA366955233 | DNAH11 | c.8590T>G (p.Leu2864Val) c.8611T>G (p.Leu2871Val) | |
7 | g.21748660T>A | CA366955234 | DNAH11 | c.8591T>A (p.Leu2864Ter) c.8612T>A (p.Leu2871Ter) | gnomAD v4 |
7 | g.21748660T>C | CA366955235 | DNAH11 | c.8591T>C (p.Leu2864Ser) c.8612T>C (p.Leu2871Ser) | |
7 | g.21748660T>G | CA366955236 | DNAH11 | c.8591T>G (p.Leu2864Trp) c.8612T>G (p.Leu2871Trp) | |
7 | g.21748661G>A | CA453968516 | DNAH11 | c.8592G>A (p.Leu2864=) c.8613G>A (p.Leu2871=) | |
7 | g.21748661G>C | CA366955237 | DNAH11 | c.8592G>C (p.Leu2864Phe) c.8613G>C (p.Leu2871Phe) | dbSNP gnomAD v4 |
7 | g.21748661G= | CA1693662113 | DNAH11 | c.8592G= (p.Leu2864=) c.8613G= (p.Leu2871=) | |
7 | g.21748661G>T | CA366955238 | DNAH11 | c.8592G>T (p.Leu2864Phe) c.8613G>T (p.Leu2871Phe) | |
7 | g.21748662T>A | CA366955247 | DNAH11 | c.8593T>A (p.Ser2865Thr) c.8614T>A (p.Ser2872Thr) | |
7 | g.21748662T>C | CA366955245 | DNAH11 | c.8593T>C (p.Ser2865Pro) c.8614T>C (p.Ser2872Pro) | |
7 | g.21748662T>G | CA366955239 | DNAH11 | c.8593T>G (p.Ser2865Ala) c.8614T>G (p.Ser2872Ala) | |
7 | g.21748663C>A | CA366955249 | DNAH11 | c.8594C>A (p.Ser2865Tyr) c.8615C>A (p.Ser2872Tyr) | COSMIC COSMIC |
7 | g.21748663C>G | CA366955250 | DNAH11 | c.8594C>G (p.Ser2865Cys) c.8615C>G (p.Ser2872Cys) | |
7 | g.21748663C>T | CA366955252 | DNAH11 | c.8594C>T (p.Ser2865Phe) c.8615C>T (p.Ser2872Phe) | COSMIC COSMIC |
7 | g.21748664C>A | CA453968519 | DNAH11 | c.8595C>A (p.Ser2865=) c.8616C>A (p.Ser2872=) | |
7 | g.21748664C= | CA1693662114 | DNAH11 | c.8595C= (p.Ser2865=) c.8616C= (p.Ser2872=) | |
7 | g.21748664C>G | CA453968521 | DNAH11 | c.8595C>G (p.Ser2865=) c.8616C>G (p.Ser2872=) | |
7 | g.21748664C>T | CA4181657 | DNAH11 | c.8595C>T (p.Ser2865=) c.8616C>T (p.Ser2872=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748665A>C | CA453968524 | DNAH11 | c.8596A>C (p.Arg2866=) c.8617A>C (p.Arg2873=) | gnomAD v4 |
7 | g.21748665A>G | CA366955254 | DNAH11 | c.8596A>G (p.Arg2866Gly) c.8617A>G (p.Arg2873Gly) | |
7 | g.21748665A>T | CA366955255 | DNAH11 | c.8596A>T (p.Arg2866Trp) c.8617A>T (p.Arg2873Trp) | |
7 | g.21748666G>A | CA366955258 | DNAH11 | c.8597G>A (p.Arg2866Lys) c.8618G>A (p.Arg2873Lys) | |
7 | g.21748666G>C | CA366955260 | DNAH11 | c.8597G>C (p.Arg2866Thr) c.8618G>C (p.Arg2873Thr) | |
7 | g.21748666G>T | CA366955259 | DNAH11 | c.8597G>T (p.Arg2866Met) c.8618G>T (p.Arg2873Met) | |
7 | g.21748667G>A | CA453968525 | DNAH11 | c.8598G>A (p.Arg2866=) c.8619G>A (p.Arg2873=) | ClinVar gnomAD v4 |
7 | g.21748667G>C | CA366955263 | DNAH11 | c.8598G>C (p.Arg2866Ser) c.8619G>C (p.Arg2873Ser) | gnomAD v4 |
7 | g.21748667G>T | CA366955265 | DNAH11 | c.8598G>T (p.Arg2866Ser) c.8619G>T (p.Arg2873Ser) | |
7 | g.21748668C>A | CA366955267 | DNAH11 | c.8599C>A (p.Leu2867Met) c.8620C>A (p.Leu2874Met) | |
7 | g.21748668C= | CA1693662115 | DNAH11 | c.8599C= (p.Leu2867=) c.8620C= (p.Leu2874=) | |
7 | g.21748668C>G | CA366955270 | DNAH11 | c.8599C>G (p.Leu2867Val) c.8620C>G (p.Leu2874Val) | |
7 | g.21748668C>T | CA155121342 | DNAH11 | c.8599C>T (p.Leu2867=) c.8620C>T (p.Leu2874=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21748669del | CA2681987056 | DNAH11 | c.8600del (p.Leu2867ArgfsTer15) c.8621del (p.Leu2874ArgfsTer15) | gnomAD v4 |
7 | g.21748669T>A | CA366955273 | DNAH11 | c.8600T>A (p.Leu2867Gln) c.8621T>A (p.Leu2874Gln) | |
7 | g.21748669T>C | CA366955275 | DNAH11 | c.8600T>C (p.Leu2867Pro) c.8621T>C (p.Leu2874Pro) | |
7 | g.21748669T>G | CA366955276 | DNAH11 | c.8600T>G (p.Leu2867Arg) c.8621T>G (p.Leu2874Arg) | |
7 | g.21748670G>A | CA453968527 | DNAH11 | c.8601G>A (p.Leu2867=) c.8622G>A (p.Leu2874=) | dbSNP gnomAD v4 |
7 | g.21748670G>C | CA453968529 | DNAH11 | c.8601G>C (p.Leu2867=) c.8622G>C (p.Leu2874=) | |
7 | g.21748670G= | CA1693662116 | DNAH11 | c.8601G= (p.Leu2867=) c.8622G= (p.Leu2874=) | |
7 | g.21748670G>T | CA453968528 | DNAH11 | c.8601G>T (p.Leu2867=) c.8622G>T (p.Leu2874=) | gnomAD v4 |
7 | g.21748671G>A | CA366955278 | DNAH11 | c.8602G>A (p.Ala2868Thr) c.8623G>A (p.Ala2875Thr) | gnomAD v4 |
7 | g.21748671G>C | CA366955280 | DNAH11 | c.8602G>C (p.Ala2868Pro) c.8623G>C (p.Ala2875Pro) | |
7 | g.21748671G>T | CA366955282 | DNAH11 | c.8602G>T (p.Ala2868Ser) c.8623G>T (p.Ala2875Ser) | |
7 | g.21748672C>A | CA366955286 | DNAH11 | c.8603C>A (p.Ala2868Glu) c.8624C>A (p.Ala2875Glu) | |
7 | g.21748672C>G | CA366955285 | DNAH11 | c.8603C>G (p.Ala2868Gly) c.8624C>G (p.Ala2875Gly) | |
7 | g.21748672C>T | CA366955284 | DNAH11 | c.8603C>T (p.Ala2868Val) c.8624C>T (p.Ala2875Val) | gnomAD v4 |
7 | g.21748673A= | CA1693662117 | DNAH11 | c.8604A= (p.Ala2868=) c.8625A= (p.Ala2875=) | |
7 | g.21748673A>C | CA453968531 | DNAH11 | c.8604A>C (p.Ala2868=) c.8625A>C (p.Ala2875=) | |
7 | g.21748673A>G | CA453968532 | DNAH11 | c.8604A>G (p.Ala2868=) c.8625A>G (p.Ala2875=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748673A>T | CA453968533 | DNAH11 | c.8604A>T (p.Ala2868=) c.8625A>T (p.Ala2875=) | |
7 | g.21748674G>A | CA366955289 | DNAH11 | c.8605G>A (p.Ala2869Thr) c.8626G>A (p.Ala2876Thr) | |
7 | g.21748674G>C | CA366955291 | DNAH11 | c.8605G>C (p.Ala2869Pro) c.8626G>C (p.Ala2876Pro) | |
7 | g.21748674G>T | CA366955292 | DNAH11 | c.8605G>T (p.Ala2869Ser) c.8626G>T (p.Ala2876Ser) | |
7 | g.21748675C>A | CA366955293 | DNAH11 | c.8606C>A (p.Ala2869Asp) c.8627C>A (p.Ala2876Asp) | |
7 | g.21748675C>G | CA366955294 | DNAH11 | c.8606C>G (p.Ala2869Gly) c.8627C>G (p.Ala2876Gly) | |
7 | g.21748675C>T | CA366955296 | DNAH11 | c.8606C>T (p.Ala2869Val) c.8627C>T (p.Ala2876Val) | ClinVar dbSNP gnomAD v4 |
7 | g.21748676T>A | CA453968535 | DNAH11 | c.8607T>A (p.Ala2869=) c.8628T>A (p.Ala2876=) | |
7 | g.21748676T>C | CA453968536 | DNAH11 | c.8607T>C (p.Ala2869=) c.8628T>C (p.Ala2876=) | |
7 | g.21748676T>G | CA453968537 | DNAH11 | c.8607T>G (p.Ala2869=) c.8628T>G (p.Ala2876=) | |
7 | g.21748677T>A | CA366955299 | DNAH11 | c.8608T>A (p.Tyr2870Asn) c.8629T>A (p.Tyr2877Asn) | |
7 | g.21748677T>C | CA366955300 | DNAH11 | c.8608T>C (p.Tyr2870His) c.8629T>C (p.Tyr2877His) | |
7 | g.21748677T>G | CA366955301 | DNAH11 | c.8608T>G (p.Tyr2870Asp) c.8629T>G (p.Tyr2877Asp) | |
7 | g.21748678A= | CA1693662118 | DNAH11 | c.8609A= (p.Tyr2870=) c.8630A= (p.Tyr2877=) | |
7 | g.21748678A>C | CA366955302 | DNAH11 | c.8609A>C (p.Tyr2870Ser) c.8630A>C (p.Tyr2877Ser) | |
7 | g.21748678A>G | CA366955303 | DNAH11 | c.8609A>G (p.Tyr2870Cys) c.8630A>G (p.Tyr2877Cys) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21748678A>T | CA366955305 | DNAH11 | c.8609A>T (p.Tyr2870Phe) c.8630A>T (p.Tyr2877Phe) | |
7 | g.21748679C>A | CA366955307 | DNAH11 | c.8610C>A (p.Tyr2870Ter) c.8631C>A (p.Tyr2877Ter) | |
7 | g.21748679C= | CA1693662119 | DNAH11 | c.8610C= (p.Tyr2870=) c.8631C= (p.Tyr2877=) | |
7 | g.21748679C>G | CA10582483 | DNAH11 | c.8610C>G (p.Tyr2870Ter) c.8631C>G (p.Tyr2877Ter) | ClinVar dbSNP |
7 | g.21748679C>T | CA453968540 | DNAH11 | c.8610C>T (p.Tyr2870=) c.8631C>T (p.Tyr2877=) | ClinVar dbSNP |
7 | g.21748680C>A | CA366955313 | DNAH11 | c.8611C>A (p.Leu2871Ile) c.8632C>A (p.Leu2878Ile) | |
7 | g.21748680C= | CA1693662120 | DNAH11 | c.8611C= (p.Leu2871=) c.8632C= (p.Leu2878=) | |
7 | g.21748680C>G | CA4181658 | DNAH11 | c.8611C>G (p.Leu2871Val) c.8632C>G (p.Leu2878Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21748680C>T | CA366955311 | DNAH11 | c.8611C>T (p.Leu2871Phe) c.8632C>T (p.Leu2878Phe) | |
7 | g.21748681T>A | CA366955316 | DNAH11 | c.8612T>A (p.Leu2871His) c.8633T>A (p.Leu2878His) | |
7 | g.21748681T>C | CA366955317 | DNAH11 | c.8612T>C (p.Leu2871Pro) c.8633T>C (p.Leu2878Pro) | gnomAD v4 |
7 | g.21748681T>G | CA366955320 | DNAH11 | c.8612T>G (p.Leu2871Arg) c.8633T>G (p.Leu2878Arg) | dbSNP |
7 | g.21748681T= | CA1693662121 | DNAH11 | c.8612T= (p.Leu2871=) c.8633T= (p.Leu2878=) | |
7 | g.21748682T>A | CA453968541 | DNAH11 | c.8613T>A (p.Leu2871=) c.8634T>A (p.Leu2878=) | COSMIC COSMIC |
7 | g.21748682T>C | CA453968542 | DNAH11 | c.8613T>C (p.Leu2871=) c.8634T>C (p.Leu2878=) | |
7 | g.21748682T>G | CA453968543 | DNAH11 | c.8613T>G (p.Leu2871=) c.8634T>G (p.Leu2878=) | |
7 | g.21748683C>A | CA366955323 | DNAH11 | c.8614C>A (p.Arg2872Ser) c.8635C>A (p.Arg2879Ser) | |
7 | g.21748683C= | CA1693662122 | DNAH11 | c.8614C= (p.Arg2872=) c.8635C= (p.Arg2879=) | |
7 | g.21748683C>G | CA366955325 | DNAH11 | c.8614C>G (p.Arg2872Gly) c.8635C>G (p.Arg2879Gly) | |
7 | g.21748683C>T | CA4181659 | DNAH11 | c.8614C>T (p.Arg2872Cys) c.8635C>T (p.Arg2879Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.21748684G>A | CA4181660 | DNAH11 | c.8615G>A (p.Arg2872His) c.8636G>A (p.Arg2879His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.21748684G>C | CA366955332 | DNAH11 | c.8615G>C (p.Arg2872Pro) c.8636G>C (p.Arg2879Pro) | |
7 | g.21748684G= | CA1693662123 | DNAH11 | c.8615G= (p.Arg2872=) c.8636G= (p.Arg2879=) | |
7 | g.21748684G>T | CA366955333 | DNAH11 | c.8615G>T (p.Arg2872Leu) c.8636G>T (p.Arg2879Leu) |