UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.21600720G>A | CA454139576 | DNAH11 | c.3045G>A (p.Glu1015=) | |
| 7 | g.21600720G>C | CA366944987 | DNAH11 | c.3045G>C (p.Glu1015Asp) | gnomAD v4 |
| 7 | g.21600720G= | CA1693580310 | DNAH11 | c.3045G= (p.Glu1015=) | |
| 7 | g.21600720G>T | CA4179519 | DNAH11 | c.3045G>T (p.Glu1015Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21600721A= | CA1693580312 | DNAH11 | c.3046A= (p.Ile1016=) | |
| 7 | g.21600721A>C | CA366944988 | DNAH11 | c.3046A>C (p.Ile1016Leu) | |
| 7 | g.21600721A>G | CA366944989 | DNAH11 | c.3046A>G (p.Ile1016Val) | |
| 7 | g.21600721A>T | CA4179520 | DNAH11 | c.3046A>T (p.Ile1016Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21600722T>A | CA366944990 | DNAH11 | c.3047T>A (p.Ile1016Asn) | |
| 7 | g.21600722T>C | CA366944991 | DNAH11 | c.3047T>C (p.Ile1016Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.21600722T>G | CA366944992 | DNAH11 | c.3047T>G (p.Ile1016Ser) | |
| 7 | g.21600722T= | CA1693580316 | DNAH11 | c.3047T= (p.Ile1016=) | |
| 7 | g.21600723C>A | CA454139579 | DNAH11 | c.3048C>A (p.Ile1016=) | |
| 7 | g.21600723C>G | CA366944993 | DNAH11 | c.3048C>G (p.Ile1016Met) | gnomAD v4 |
| 7 | g.21600723C>T | CA454139580 | DNAH11 | c.3048C>T (p.Ile1016=) | ClinVar dbSNP |
| 7 | g.21600724A= | CA1693580319 | DNAH11 | c.3049A= (p.Met1017=) | |
| 7 | g.21600724A>C | CA366944994 | DNAH11 | c.3049A>C (p.Met1017Leu) | gnomAD v4 |
| 7 | g.21600724A>G | CA366944995 | DNAH11 | c.3049A>G (p.Met1017Val) | |
| 7 | g.21600724A>T | CA4179521 | DNAH11 | c.3049A>T (p.Met1017Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21600725T>A | CA366944996 | DNAH11 | c.3050T>A (p.Met1017Lys) | |
| 7 | g.21600725T>C | CA366944997 | DNAH11 | c.3050T>C (p.Met1017Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.21600725T>G | CA155087728 | DNAH11 | c.3050T>G (p.Met1017Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21600725T= | CA1693580326 | DNAH11 | c.3050T= (p.Met1017=) | |
| 7 | g.21600726G>A | CA366945000 | DNAH11 | c.3051G>A (p.Met1017Ile) | gnomAD v4 |
| 7 | g.21600726G>C | CA366944998 | DNAH11 | c.3051G>C (p.Met1017Ile) | |
| 7 | g.21600726G= | CA1693580333 | DNAH11 | c.3051G= (p.Met1017=) | |
| 7 | g.21600726G>T | CA366944999 | DNAH11 | c.3051G>T (p.Met1017Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 7 | g.21600727A>C | CA366945001 | DNAH11 | c.3052A>C (p.Asn1018His) | |
| 7 | g.21600727A>G | CA366945002 | DNAH11 | c.3052A>G (p.Asn1018Asp) | |
| 7 | g.21600727A>T | CA366945003 | DNAH11 | c.3052A>T (p.Asn1018Tyr) | |
| 7 | g.21600728A= | CA1693580337 | DNAH11 | c.3053A= (p.Asn1018=) | |
| 7 | g.21600728A>C | CA366945004 | DNAH11 | c.3053A>C (p.Asn1018Thr) | |
| 7 | g.21600728A>G | CA366945005 | DNAH11 | c.3053A>G (p.Asn1018Ser) | gnomAD v4 |
| 7 | g.21600728A>T | CA366945006 | DNAH11 | c.3053A>T (p.Asn1018Ile) | dbSNP gnomAD v4 |
| 7 | g.21600729C>A | CA366945007 | DNAH11 | c.3054C>A (p.Asn1018Lys) | |
| 7 | g.21600729C>G | CA366945008 | DNAH11 | c.3054C>G (p.Asn1018Lys) | |
| 7 | g.21600729C>T | CA454139589 | DNAH11 | c.3054C>T (p.Asn1018=) | ClinVar gnomAD v4 |
| 7 | g.21600730A>C | CA454139590 | DNAH11 | c.3055A>C (p.Arg1019=) | |
| 7 | g.21600730A>G | CA366945009 | DNAH11 | c.3055A>G (p.Arg1019Gly) | gnomAD v4 |
| 7 | g.21600730A>T | CA366945010 | DNAH11 | c.3055A>T (p.Arg1019Ter) | |
| 7 | g.21600731G>A | CA366945013 | DNAH11 | c.3056G>A (p.Arg1019Lys) | |
| 7 | g.21600731G>C | CA366945012 | DNAH11 | c.3056G>C (p.Arg1019Thr) | gnomAD v4 |
| 7 | g.21600731G>T | CA366945011 | DNAH11 | c.3056G>T (p.Arg1019Ile) | |
| 7 | g.21600732A= | CA1693580341 | DNAH11 | c.3057A= (p.Arg1019=) | |
| 7 | g.21600732A>C | CA366945014 | DNAH11 | c.3057A>C (p.Arg1019Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.21600732A>G | CA4179522 | DNAH11 | c.3057A>G (p.Arg1019=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21600732A>T | CA366945015 | DNAH11 | c.3057A>T (p.Arg1019Ser) | |
| 7 | g.21600733G>A | CA366945016 | DNAH11 | c.3058G>A (p.Val1020Met) | |
| 7 | g.21600733G>C | CA4179523 | DNAH11 | c.3058G>C (p.Val1020Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21600733G= | CA1693580344 | DNAH11 | c.3058G= (p.Val1020=) | |
| 7 | g.21600733G>T | CA366945017 | DNAH11 | c.3058G>T (p.Val1020Leu) | |
| 7 | g.21600734T>A | CA366945018 | DNAH11 | c.3059T>A (p.Val1020Glu) | |
| 7 | g.21600734T>C | CA366945019 | DNAH11 | c.3059T>C (p.Val1020Ala) | dbSNP |
| 7 | g.21600734T>G | CA366945020 | DNAH11 | c.3059T>G (p.Val1020Gly) | |
| 7 | g.21600734T= | CA1693580349 | DNAH11 | c.3059T= (p.Val1020=) | |
| 7 | g.21600736_21600742dup | CA2681979718 | DNAH11 | c.3061_3067dup (p.Val1023GlyfsTer24) | gnomAD v4 |
| 7 | g.21600735G>A | CA454139597 | DNAH11 | c.3060G>A (p.Val1020=) | |
| 7 | g.21600735G>C | CA454139600 | DNAH11 | c.3060G>C (p.Val1020=) | |
| 7 | g.21600735G= | CA1693580351 | DNAH11 | c.3060G= (p.Val1020=) | |
| 7 | g.21600735G>T | CA454139599 | DNAH11 | c.3060G>T (p.Val1020=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.21600736G>A | CA366945021 | DNAH11 | c.3061G>A (p.Val1021Met) | gnomAD v4 |
| 7 | g.21600736G>C | CA366945022 | DNAH11 | c.3061G>C (p.Val1021Leu) | gnomAD v4 |
| 7 | g.21600736G>T | CA366945023 | DNAH11 | c.3061G>T (p.Val1021Leu) | |
| 7 | g.21600737T>A | CA366945026 | DNAH11 | c.3062T>A (p.Val1021Glu) | |
| 7 | g.21600737T>C | CA366945025 | DNAH11 | c.3062T>C (p.Val1021Ala) | dbSNP |
| 7 | g.21600737T>G | CA366945024 | DNAH11 | c.3062T>G (p.Val1021Gly) | |
| 7 | g.21600737T= | CA1693580354 | DNAH11 | c.3062T= (p.Val1021=) | |
| 7 | g.21600738G>A | CA454139604 | DNAH11 | c.3063G>A (p.Val1021=) | COSMIC COSMIC |
| 7 | g.21600738G>C | CA454139605 | DNAH11 | c.3063G>C (p.Val1021=) | |
| 7 | g.21600738G>T | CA454139606 | DNAH11 | c.3063G>T (p.Val1021=) | |
| 7 | g.21600739A>C | CA366945027 | DNAH11 | c.3064A>C (p.Asn1022His) | |
| 7 | g.21600739A>G | CA366945028 | DNAH11 | c.3064A>G (p.Asn1022Asp) | |
| 7 | g.21600739A>T | CA366945029 | DNAH11 | c.3064A>T (p.Asn1022Tyr) | |
| 7 | g.21600740A>C | CA366945030 | DNAH11 | c.3065A>C (p.Asn1022Thr) | |
| 7 | g.21600740A>G | CA366945031 | DNAH11 | c.3065A>G (p.Asn1022Ser) | |
| 7 | g.21600740A>T | CA366945032 | DNAH11 | c.3065A>T (p.Asn1022Ile) | |
| 7 | g.21600741T>A | CA366945034 | DNAH11 | c.3066T>A (p.Asn1022Lys) | |
| 7 | g.21600741T>C | CA454139608 | DNAH11 | c.3066T>C (p.Asn1022=) | |
| 7 | g.21600741T>G | CA366945033 | DNAH11 | c.3066T>G (p.Asn1022Lys) | |
| 7 | g.21600742G>A | CA366945035 | DNAH11 | c.3067G>A (p.Val1023Ile) | |
| 7 | g.21600742G>C | CA366945036 | DNAH11 | c.3067G>C (p.Val1023Leu) | |
| 7 | g.21600742G>T | CA366945037 | DNAH11 | c.3067G>T (p.Val1023Phe) | |
| 7 | g.21600743del | CA2681979719 | DNAH11 | c.3068del (p.Val1023AlafsTer6) | gnomAD v4 |
| 7 | g.21600743T>A | CA366945038 | DNAH11 | c.3068T>A (p.Val1023Asp) | gnomAD v4 |
| 7 | g.21600743T>C | CA182891 | DNAH11 | c.3068T>C (p.Val1023Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21600743T>G | CA366945039 | DNAH11 | c.3068T>G (p.Val1023Gly) | |
| 7 | g.21600743T= | CA1630834700 | DNAH11 | c.3068T= (p.Val1023=) | |
| 7 | g.21600744C>A | CA454139611 | DNAH11 | c.3069C>A (p.Val1023=) | |
| 7 | g.21600744C= | CA1693580360 | DNAH11 | c.3069C= (p.Val1023=) | |
| 7 | g.21600744C>G | CA454139612 | DNAH11 | c.3069C>G (p.Val1023=) | dbSNP |
| 7 | g.21600744C>T | CA454139613 | DNAH11 | c.3069C>T (p.Val1023=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.21600745A= | CA1693580362 | DNAH11 | c.3070A= (p.Ile1024=) | |
| 7 | g.21600745A>C | CA4179524 | DNAH11 | c.3070A>C (p.Ile1024Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.21600745A>G | CA366945041 | DNAH11 | c.3070A>G (p.Ile1024Val) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.21600745A>T | CA366945040 | DNAH11 | c.3070A>T (p.Ile1024Phe) | |
| 7 | g.21600746T>A | CA366945042 | DNAH11 | c.3071T>A (p.Ile1024Asn) | |
| 7 | g.21600746T>C | CA366945043 | DNAH11 | c.3071T>C (p.Ile1024Thr) | |
| 7 | g.21600746T>G | CA366945044 | DNAH11 | c.3071T>G (p.Ile1024Ser) | |
| 7 | g.21600747C>A | CA454139618 | DNAH11 | c.3072C>A (p.Ile1024=) | gnomAD v4 |
| 7 | g.21600747C= | CA1693580365 | DNAH11 | c.3072C= (p.Ile1024=) | |
| 7 | g.21600747C>G | CA4179525 | DNAH11 | c.3072C>G (p.Ile1024Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21600747C>T | CA454139619 | DNAH11 | c.3072C>T (p.Ile1024=) | |
| 7 | g.21600748A>C | CA366945045 | DNAH11 | c.3073A>C (p.Asn1025His) | |
| 7 | g.21600748A>G | CA366945046 | DNAH11 | c.3073A>G (p.Asn1025Asp) | |
| 7 | g.21600748A>T | CA366945047 | DNAH11 | c.3073A>T (p.Asn1025Tyr) | |
| 7 | g.21600749A= | CA1693580368 | DNAH11 | c.3074A= (p.Asn1025=) | |
| 7 | g.21600749A>C | CA366945048 | DNAH11 | c.3074A>C (p.Asn1025Thr) | |
| 7 | g.21600749A>G | CA4179526 | DNAH11 | c.3074A>G (p.Asn1025Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21600749A>T | CA366945049 | DNAH11 | c.3074A>T (p.Asn1025Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.21600750C>A | CA366945050 | DNAH11 | c.3075C>A (p.Asn1025Lys) | |
| 7 | g.21600750C>G | CA366945051 | DNAH11 | c.3075C>G (p.Asn1025Lys) | |
| 7 | g.21600750C>T | CA454139628 | DNAH11 | c.3075C>T (p.Asn1025=) | |
| 7 | g.21600751A>C | CA366945053 | DNAH11 | c.3076A>C (p.Lys1026Gln) | |
| 7 | g.21600751A>G | CA366945054 | DNAH11 | c.3076A>G (p.Lys1026Glu) | gnomAD v4 |
| 7 | g.21600751A>T | CA366945052 | DNAH11 | c.3076A>T (p.Lys1026Ter) | |
| 7 | g.21600752_21600753del | CA2681979720 | DNAH11 | c.3077_3078del (p.Lys1026SerfsTer18) | gnomAD v4 |
| 7 | g.21600752A>C | CA366945055 | DNAH11 | c.3077A>C (p.Lys1026Thr) | |
| 7 | g.21600752A>G | CA366945056 | DNAH11 | c.3077A>G (p.Lys1026Arg) | |
| 7 | g.21600752A>T | CA366945057 | DNAH11 | c.3077A>T (p.Lys1026Ile) | |
| 7 | g.21600753A>C | CA366945058 | DNAH11 | c.3078A>C (p.Lys1026Asn) | |
| 7 | g.21600753A>G | CA454139243 | DNAH11 | c.3078A>G (p.Lys1026=) | |
| 7 | g.21600753A>T | CA366945059 | DNAH11 | c.3078A>T (p.Lys1026Asn) | |
| 7 | g.21600754G>A | CA4179527 | DNAH11 | c.3079G>A (p.Val1027Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21600754G>C | CA366945060 | DNAH11 | c.3079G>C (p.Val1027Leu) | |
| 7 | g.21600754G= | CA1693580372 | DNAH11 | c.3079G= (p.Val1027=) | |
| 7 | g.21600754G>T | CA366945061 | DNAH11 | c.3079G>T (p.Val1027Phe) | |
| 7 | g.21600755T>A | CA366945062 | DNAH11 | c.3080T>A (p.Val1027Asp) | |
| 7 | g.21600755T>C | CA366945063 | DNAH11 | c.3080T>C (p.Val1027Ala) | |
| 7 | g.21600755T>G | CA366945064 | DNAH11 | c.3080T>G (p.Val1027Gly) | |
| 7 | g.21600756C>A | CA454139246 | DNAH11 | c.3081C>A (p.Val1027=) | |
| 7 | g.21600756C= | CA1693580376 | DNAH11 | c.3081C= (p.Val1027=) | |
| 7 | g.21600756C>G | CA454139245 | DNAH11 | c.3081C>G (p.Val1027=) | dbSNP gnomAD v4 |
| 7 | g.21600756C>T | CA454139244 | DNAH11 | c.3081C>T (p.Val1027=) | gnomAD v4 |
| 7 | g.21600757T>A | CA366945065 | DNAH11 | c.3082T>A (p.Leu1028Ile) | |
| 7 | g.21600757T>C | CA454139247 | DNAH11 | c.3082T>C (p.Leu1028=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.21600757T>G | CA366945066 | DNAH11 | c.3082T>G (p.Leu1028Val) | |
| 7 | g.21600757T= | CA1693580379 | DNAH11 | c.3082T= (p.Leu1028=) | |
| 7 | g.21600758T>A | CA366945068 | DNAH11 | c.3083T>A (p.Leu1028Ter) | |
| 7 | g.21600758T>C | CA4179528 | DNAH11 | c.3083T>C (p.Leu1028Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21600758T>G | CA366945067 | DNAH11 | c.3083T>G (p.Leu1028Ter) | |
| 7 | g.21600758T= | CA1693580381 | DNAH11 | c.3083T= (p.Leu1028=) | |
| 7 | g.21600759A= | CA1693580385 | DNAH11 | c.3084A= (p.Leu1028=) | |
| 7 | g.21600759A>C | CA366945069 | DNAH11 | c.3084A>C (p.Leu1028Phe) | gnomAD v4 |
| 7 | g.21600759A>G | CA4179529 | DNAH11 | c.3084A>G (p.Leu1028=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21600759A>T | CA366945070 | DNAH11 | c.3084A>T (p.Leu1028Phe) | |
| 7 | g.21600760G>A | CA366945071 | DNAH11 | c.3085G>A (p.Asp1029Asn) | |
| 7 | g.21600760G>C | CA366945072 | DNAH11 | c.3085G>C (p.Asp1029His) | |
| 7 | g.21600760G>T | CA366945073 | DNAH11 | c.3085G>T (p.Asp1029Tyr) | |
| 7 | g.21600761A>C | CA366945074 | DNAH11 | c.3086A>C (p.Asp1029Ala) | |
| 7 | g.21600761A>G | CA366945075 | DNAH11 | c.3086A>G (p.Asp1029Gly) | |
| 7 | g.21600761A>T | CA366945076 | DNAH11 | c.3086A>T (p.Asp1029Val) | |
| 7 | g.21600762T>A | CA366945077 | DNAH11 | c.3087T>A (p.Asp1029Glu) | |
| 7 | g.21600762T>C | CA454139248 | DNAH11 | c.3087T>C (p.Asp1029=) | |
| 7 | g.21600762T>G | CA366945078 | DNAH11 | c.3087T>G (p.Asp1029Glu) | |
| 7 | g.21600763T>A | CA366945079 | DNAH11 | c.3088T>A (p.Phe1030Ile) | |
| 7 | g.21600763T>C | CA366945080 | DNAH11 | c.3088T>C (p.Phe1030Leu) | |
| 7 | g.21600763T>G | CA366945081 | DNAH11 | c.3088T>G (p.Phe1030Val) | |
| 7 | g.21600764T>A | CA366945084 | DNAH11 | c.3089T>A (p.Phe1030Tyr) | gnomAD v4 |
| 7 | g.21600764T>C | CA366945083 | DNAH11 | c.3089T>C (p.Phe1030Ser) | |
| 7 | g.21600764T>G | CA366945082 | DNAH11 | c.3089T>G (p.Phe1030Cys) | |
| 7 | g.21600765C>A | CA366945085 | DNAH11 | c.3090C>A (p.Phe1030Leu) | |
| 7 | g.21600765C>G | CA366945086 | DNAH11 | c.3090C>G (p.Phe1030Leu) | |
| 7 | g.21600765C>T | CA454139249 | DNAH11 | c.3090C>T (p.Phe1030=) | |
| 7 | g.21600766A= | CA1693580389 | DNAH11 | c.3091A= (p.Arg1031=) | |
| 7 | g.21600766A>C | CA155087755 | DNAH11 | c.3091A>C (p.Arg1031=) | dbSNP |
| 7 | g.21600766A>G | CA366945087 | DNAH11 | c.3091A>G (p.Arg1031Gly) | gnomAD v4 |
| 7 | g.21600766A>T | CA366945088 | DNAH11 | c.3091A>T (p.Arg1031Ter) | |
| 7 | g.21600767G>A | CA366945089 | DNAH11 | c.3092G>A (p.Arg1031Lys) | |
| 7 | g.21600767G>C | CA366945090 | DNAH11 | c.3092G>C (p.Arg1031Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.21600767G= | CA1693580393 | DNAH11 | c.3092G= (p.Arg1031=) | |
| 7 | g.21600767G>T | CA366945091 | DNAH11 | c.3092G>T (p.Arg1031Ile) | |
| 7 | g.21600768A>C | CA366945092 | DNAH11 | c.3093A>C (p.Arg1031Ser) | |
| 7 | g.21600768A>G | CA454139250 | DNAH11 | c.3093A>G (p.Arg1031=) | gnomAD v4 |
| 7 | g.21600768A>T | CA366945093 | DNAH11 | c.3093A>T (p.Arg1031Ser) | |
| 7 | g.21600769A>C | CA366945094 | DNAH11 | c.3094A>C (p.Asn1032His) | |
| 7 | g.21600769A>G | CA366945095 | DNAH11 | c.3094A>G (p.Asn1032Asp) | |
| 7 | g.21600769A>T | CA366945096 | DNAH11 | c.3094A>T (p.Asn1032Tyr) | |
| 7 | g.21600770A= | CA1693580396 | DNAH11 | c.3095A= (p.Asn1032=) | |
| 7 | g.21600770A>C | CA366945097 | DNAH11 | c.3095A>C (p.Asn1032Thr) | |
| 7 | g.21600770A>G | CA366945098 | DNAH11 | c.3095A>G (p.Asn1032Ser) | ClinVar dbSNP gnomAD v4 |
| 7 | g.21600770A>T | CA366945099 | DNAH11 | c.3095A>T (p.Asn1032Ile) | gnomAD v4 |
| 7 | g.21600771C>A | CA366945100 | DNAH11 | c.3096C>A (p.Asn1032Lys) | |
| 7 | g.21600771C>G | CA366945101 | DNAH11 | c.3096C>G (p.Asn1032Lys) | |
| 7 | g.21600771C>T | CA454139251 | DNAH11 | c.3096C>T (p.Asn1032=) | ClinVar |
| 7 | g.21600772A= | CA1693580399 | DNAH11 | c.3097A= (p.Thr1033=) | |
| 7 | g.21600772A>C | CA366945102 | DNAH11 | c.3097A>C (p.Thr1033Pro) | |
| 7 | g.21600772A>G | CA366945103 | DNAH11 | c.3097A>G (p.Thr1033Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21600772A>T | CA366945104 | DNAH11 | c.3097A>T (p.Thr1033Ser) | |
| 7 | g.21600773C>A | CA366945105 | DNAH11 | c.3098C>A (p.Thr1033Asn) | |
| 7 | g.21600773C= | CA1693580403 | DNAH11 | c.3098C= (p.Thr1033=) | |
| 7 | g.21600773C>G | CA366945106 | DNAH11 | c.3098C>G (p.Thr1033Ser) | |
| 7 | g.21600773C>T | CA4179530 | DNAH11 | c.3098C>T (p.Thr1033Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.21600774C>A | CA454139252 | DNAH11 | c.3099C>A (p.Thr1033=) | |
| 7 | g.21600774C>G | CA454139253 | DNAH11 | c.3099C>G (p.Thr1033=) | |
| 7 | g.21600774C>T | CA454139254 | DNAH11 | c.3099C>T (p.Thr1033=) | |
| 7 | g.21600775C>A | CA366945107 | DNAH11 | c.3100C>A (p.Leu1034Met) | |
| 7 | g.21600775C= | CA1693580405 | DNAH11 | c.3100C= (p.Leu1034=) | |
| 7 | g.21600775C>G | CA366945108 | DNAH11 | c.3100C>G (p.Leu1034Val) | |
| 7 | g.21600775C>T | CA4179531 | DNAH11 | c.3100C>T (p.Leu1034=) | dbSNP ExAC gnomAD v2 |
| 7 | g.21600775_21600776del | CA2681979721 | DNAH11 | c.3100_3101del (p.Leu1034GlyfsTer10) | gnomAD v4 |
| 7 | g.21600776T>A | CA366945109 | DNAH11 | c.3101T>A (p.Leu1034Gln) | |
| 7 | g.21600776T>C | CA366945110 | DNAH11 | c.3101T>C (p.Leu1034Pro) | |
| 7 | g.21600776T>G | CA366945111 | DNAH11 | c.3101T>G (p.Leu1034Arg) | |
| 7 | g.21600777G>A | CA454139255 | DNAH11 | c.3102G>A (p.Leu1034=) | gnomAD v4 |
| 7 | g.21600777G>C | CA454139256 | DNAH11 | c.3102G>C (p.Leu1034=) | |
| 7 | g.21600777G>T | CA454139257 | DNAH11 | c.3102G>T (p.Leu1034=) | |
| 7 | g.21600778G>A | CA366945112 | DNAH11 | c.3103G>A (p.Glu1035Lys) | |
| 7 | g.21600778G>C | CA366945114 | DNAH11 | c.3103G>C (p.Glu1035Gln) | |
| 7 | g.21600778G>T | CA366945113 | DNAH11 | c.3103G>T (p.Glu1035Ter) | |
| 7 | g.21600779A>C | CA366945115 | DNAH11 | c.3104A>C (p.Glu1035Ala) | |
| 7 | g.21600779A>G | CA366945116 | DNAH11 | c.3104A>G (p.Glu1035Gly) | |
| 7 | g.21600779A>T | CA366945117 | DNAH11 | c.3104A>T (p.Glu1035Val) | |
| 7 | g.21600780G>A | CA349129 | DNAH11 | c.3105G>A (p.Glu1035=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21600780G>C | CA366945118 | DNAH11 | c.3105G>C (p.Glu1035Asp) | gnomAD v4 |
| 7 | g.21600780G= | CA1693580409 | DNAH11 | c.3105G= (p.Glu1035=) | |
| 7 | g.21600780G>T | CA366945119 | DNAH11 | c.3105G>T (p.Glu1035Asp) | gnomAD v4 |
| 7 | g.21600781A>C | CA366945122 | DNAH11 | c.3106A>C (p.Thr1036Pro) | |
| 7 | g.21600781A>G | CA366945121 | DNAH11 | c.3106A>G (p.Thr1036Ala) | gnomAD v4 |
| 7 | g.21600781A>T | CA366945120 | DNAH11 | c.3106A>T (p.Thr1036Ser) | |
| 7 | g.21600784_21600793del | CA2681979722 | DNAH11 | c.3109_3118del (p.His1037SerfsTer10) | gnomAD v4 |
| 7 | g.21600782C>A | CA366945123 | DNAH11 | c.3107C>A (p.Thr1036Asn) | |
| 7 | g.21600782C>G | CA366945124 | DNAH11 | c.3107C>G (p.Thr1036Ser) | |
| 7 | g.21600782C>T | CA366945125 | DNAH11 | c.3107C>T (p.Thr1036Ile) | gnomAD v4 |
| 7 | g.21600783C>A | CA454139260 | DNAH11 | c.3108C>A (p.Thr1036=) | gnomAD v3 gnomAD v4 |
| 7 | g.21600783C>G | CA454139258 | DNAH11 | c.3108C>G (p.Thr1036=) | |
| 7 | g.21600783C>T | CA454139259 | DNAH11 | c.3108C>T (p.Thr1036=) | gnomAD v4 |
| 7 | g.21600784C>A | CA366945126 | DNAH11 | c.3109C>A (p.His1037Asn) | |
| 7 | g.21600784C= | CA1693580414 | DNAH11 | c.3109C= (p.His1037=) | |
| 7 | g.21600784C>G | CA4179532 | DNAH11 | c.3109C>G (p.His1037Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21600784C>T | CA366945127 | DNAH11 | c.3109C>T (p.His1037Tyr) | gnomAD v3 gnomAD v4 |
| 7 | g.21600785A>C | CA366945128 | DNAH11 | c.3110A>C (p.His1037Pro) | |
| 7 | g.21600785A>G | CA366945130 | DNAH11 | c.3110A>G (p.His1037Arg) | gnomAD v4 |
| 7 | g.21600785A>T | CA366945129 | DNAH11 | c.3110A>T (p.His1037Leu) | |
| 7 | g.21600786C>A | CA366945131 | DNAH11 | c.3111C>A (p.His1037Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.21600786C= | CA1693580418 | DNAH11 | c.3111C= (p.His1037=) | |
| 7 | g.21600786C>G | CA366945132 | DNAH11 | c.3111C>G (p.His1037Gln) | |
| 7 | g.21600786C>T | CA4179533 | DNAH11 | c.3111C>T (p.His1037=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21600787A= | CA1630834705 | DNAH11 | c.3112A= (p.Thr1038=) | |
| 7 | g.21600787A>C | CA366945133 | DNAH11 | c.3112A>C (p.Thr1038Pro) | |
| 7 | g.21600787A>G | CA175712 | DNAH11 | c.3112A>G (p.Thr1038Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21600787A>T | CA366945134 | DNAH11 | c.3112A>T (p.Thr1038Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.21600787_21600788delinsGT | CA2580076916 | DNAH11 | c.3112_3113delinsGT (p.Thr1038Val) | ClinVar |
| 7 | g.21600788C>A | CA366945135 | DNAH11 | c.3113C>A (p.Thr1038Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21600788C= | CA1693580426 | DNAH11 | c.3113C= (p.Thr1038=) | |
| 7 | g.21600788C>G | CA366945136 | DNAH11 | c.3113C>G (p.Thr1038Ser) | dbSNP |
| 7 | g.21600788C>T | CA366945137 | DNAH11 | c.3113C>T (p.Thr1038Ile) | dbSNP |
| 7 | g.21600789T>A | CA454139261 | DNAH11 | c.3114T>A (p.Thr1038=) | |
| 7 | g.21600789T>C | CA454139263 | DNAH11 | c.3114T>C (p.Thr1038=) | ClinVar |
| 7 | g.21600789T>G | CA454139262 | DNAH11 | c.3114T>G (p.Thr1038=) | COSMIC COSMIC |
| 7 | g.21600790T>A | CA366945138 | DNAH11 | c.3115T>A (p.Tyr1039Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.21600790T>C | CA4179534 | DNAH11 | c.3115T>C (p.Tyr1039His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.21600790T>G | CA366945139 | DNAH11 | c.3115T>G (p.Tyr1039Asp) | |
| 7 | g.21600790T= | CA1693580431 | DNAH11 | c.3115T= (p.Tyr1039=) | |
| 7 | g.21600791A>C | CA366945140 | DNAH11 | c.3116A>C (p.Tyr1039Ser) | |
| 7 | g.21600791A>G | CA366945142 | DNAH11 | c.3116A>G (p.Tyr1039Cys) | |
| 7 | g.21600791A>T | CA366945141 | DNAH11 | c.3116A>T (p.Tyr1039Phe) | |
| 7 | g.21600792C>A | CA366945143 | DNAH11 | c.3117C>A (p.Tyr1039Ter) | |
| 7 | g.21600792C= | CA1693580435 | DNAH11 | c.3117C= (p.Tyr1039=) | |
| 7 | g.21600792C>G | CA366945144 | DNAH11 | c.3117C>G (p.Tyr1039Ter) | ClinVar dbSNP |
| 7 | g.21600792C>T | CA4179535 | DNAH11 | c.3117C>T (p.Tyr1039=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21600793C>A | CA366945145 | DNAH11 | c.3118C>A (p.Leu1040Ile) | gnomAD v4 |
| 7 | g.21600793C>G | CA366945146 | DNAH11 | c.3118C>G (p.Leu1040Val) | |
| 7 | g.21600793C>T | CA366945147 | DNAH11 | c.3118C>T (p.Leu1040Phe) | |
| 7 | g.21600794T>A | CA366945148 | DNAH11 | c.3119T>A (p.Leu1040His) | |
| 7 | g.21600794T>C | CA366945149 | DNAH11 | c.3119T>C (p.Leu1040Pro) | |
| 7 | g.21600794T>G | CA366945150 | DNAH11 | c.3119T>G (p.Leu1040Arg) | gnomAD v4 |
| 7 | g.21600795C>A | CA454139264 | DNAH11 | c.3120C>A (p.Leu1040=) | |
| 7 | g.21600795C>G | CA454139265 | DNAH11 | c.3120C>G (p.Leu1040=) | |
| 7 | g.21600795C>T | CA454139266 | DNAH11 | c.3120C>T (p.Leu1040=) | gnomAD v4 |
| 7 | g.21600796T>A | CA366945151 | DNAH11 | c.3121T>A (p.Trp1041Arg) | |
| 7 | g.21600796T>C | CA366945152 | DNAH11 | c.3121T>C (p.Trp1041Arg) | |
| 7 | g.21600796T>G | CA366945153 | DNAH11 | c.3121T>G (p.Trp1041Gly) | |
| 7 | g.21600796_21600797delinsCT | CA645562444 | DNAH11 | c.3121_3122delinsCT (p.Trp1041Leu) | COSMIC |
| 7 | g.21600797G>A | CA10582478 | DNAH11 | c.3122G>A (p.Trp1041Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.21600797G>C | CA366945155 | DNAH11 | c.3122G>C (p.Trp1041Ser) | |
| 7 | g.21600797G= | CA1693580441 | DNAH11 | c.3122G= (p.Trp1041=) | |
| 7 | g.21600797G>T | CA366945154 | DNAH11 | c.3122G>T (p.Trp1041Leu) | |
| 7 | g.21600798G>A | CA366945156 | DNAH11 | c.3123G>A (p.Trp1041Ter) | gnomAD v4 |
| 7 | g.21600798G>C | CA366945157 | DNAH11 | c.3123G>C (p.Trp1041Cys) | |
| 7 | g.21600798G>T | CA366945158 | DNAH11 | c.3123G>T (p.Trp1041Cys) | |
| 7 | g.21600798_21600815delinsGGTGGATGATCGAGCTGA | CA1693580444 | DNAH11 | c.3123_3140delinsGGTGGATGATCGAGCTGA (p.Trp1041=) | |
| 7 | g.21600799G>A | CA366945159 | DNAH11 | c.3124G>A (p.Val1042Met) | gnomAD v4 |
| 7 | g.21600799G>C | CA366945160 | DNAH11 | c.3124G>C (p.Val1042Leu) | |
| 7 | g.21600799G= | CA1693580448 | DNAH11 | c.3124G= (p.Val1042=) | |
| 7 | g.21600799G>T | CA366945161 | DNAH11 | c.3124G>T (p.Val1042Leu) | gnomAD v4 |
| 7 | g.21600801_21600817del | CA1693580447 | DNAH11 | c.3126_3142del (p.Asp1043TyrfsTer15) | dbSNP |
| 7 | g.21600800T>A | CA366945162 | DNAH11 | c.3125T>A (p.Val1042Glu) | |
| 7 | g.21600800T>C | CA366945163 | DNAH11 | c.3125T>C (p.Val1042Ala) | |
| 7 | g.21600800T>G | CA366945164 | DNAH11 | c.3125T>G (p.Val1042Gly) | |
| 7 | g.21600800dup | CA1693580449 | DNAH11 | c.3125dup (p.Asp1043GlyfsTer2) | dbSNP |
| 7 | g.21600801G>A | CA454139267 | DNAH11 | c.3126G>A (p.Val1042=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.21600801G>C | CA454139268 | DNAH11 | c.3126G>C (p.Val1042=) | ClinVar |
| 7 | g.21600801G= | CA1693580451 | DNAH11 | c.3126G= (p.Val1042=) | |
| 7 | g.21600801G>T | CA454139269 | DNAH11 | c.3126G>T (p.Val1042=) | |
| 7 | g.21600802G>A | CA366945165 | DNAH11 | c.3127G>A (p.Asp1043Asn) | gnomAD v4 |
| 7 | g.21600802G>C | CA366945166 | DNAH11 | c.3127G>C (p.Asp1043His) | |
| 7 | g.21600802G>T | CA366945167 | DNAH11 | c.3127G>T (p.Asp1043Tyr) | |
| 7 | g.21600803A= | CA1693580457 | DNAH11 | c.3128A= (p.Asp1043=) | |
| 7 | g.21600803A>C | CA366945170 | DNAH11 | c.3128A>C (p.Asp1043Ala) | |
| 7 | g.21600803A>G | CA366945169 | DNAH11 | c.3128A>G (p.Asp1043Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.21600803A>T | CA366945168 | DNAH11 | c.3128A>T (p.Asp1043Val) | |
| 7 | g.21600804T>A | CA366945171 | DNAH11 | c.3129T>A (p.Asp1043Glu) | |
| 7 | g.21600804T>C | CA454139270 | DNAH11 | c.3129T>C (p.Asp1043=) | |
| 7 | g.21600804T>G | CA366945172 | DNAH11 | c.3129T>G (p.Asp1043Glu) | |
| 7 | g.21600805G>A | CA366945173 | DNAH11 | c.3130G>A (p.Asp1044Asn) | |
| 7 | g.21600805G>C | CA366945175 | DNAH11 | c.3130G>C (p.Asp1044His) | |
| 7 | g.21600805G>T | CA366945174 | DNAH11 | c.3130G>T (p.Asp1044Tyr) | |
| 7 | g.21600806A>C | CA366945176 | DNAH11 | c.3131A>C (p.Asp1044Ala) | |
| 7 | g.21600806A>G | CA366945178 | DNAH11 | c.3131A>G (p.Asp1044Gly) | |
| 7 | g.21600806A>T | CA366945177 | DNAH11 | c.3131A>T (p.Asp1044Val) | |
| 7 | g.21600807T>A | CA155087787 | DNAH11 | c.3132T>A (p.Asp1044Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.21600807T>C | CA454139271 | DNAH11 | c.3132T>C (p.Asp1044=) | gnomAD v3 gnomAD v4 |
| 7 | g.21600807T>G | CA366945179 | DNAH11 | c.3132T>G (p.Asp1044Glu) | |
| 7 | g.21600807T= | CA1693580461 | DNAH11 | c.3132T= (p.Asp1044=) | |
| 7 | g.21600808C>A | CA454139272 | DNAH11 | c.3133C>A (p.Arg1045=) | gnomAD v4 |
| 7 | g.21600808C= | CA1693580465 | DNAH11 | c.3133C= (p.Arg1045=) | |
| 7 | g.21600808C>G | CA366945180 | DNAH11 | c.3133C>G (p.Arg1045Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.21600808C>T | CA4179536 | DNAH11 | c.3133C>T (p.Arg1045Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.21600809G>A | CA4179537 | DNAH11 | c.3134G>A (p.Arg1045Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21600809G>C | CA366945181 | DNAH11 | c.3134G>C (p.Arg1045Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.21600809G= | CA1693580471 | DNAH11 | c.3134G= (p.Arg1045=) | |
| 7 | g.21600809G>T | CA366945182 | DNAH11 | c.3134G>T (p.Arg1045Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.21600810A>C | CA454139274 | DNAH11 | c.3135A>C (p.Arg1045=) | |
| 7 | g.21600810A>G | CA454139275 | DNAH11 | c.3135A>G (p.Arg1045=) | gnomAD v3 gnomAD v4 |
| 7 | g.21600810A>T | CA454139273 | DNAH11 | c.3135A>T (p.Arg1045=) | |
| 7 | g.21600811G>A | CA366945183 | DNAH11 | c.3136G>A (p.Ala1046Thr) | gnomAD v4 |
| 7 | g.21600811G>C | CA366945184 | DNAH11 | c.3136G>C (p.Ala1046Pro) | |
| 7 | g.21600811G>T | CA366945185 | DNAH11 | c.3136G>T (p.Ala1046Ser) | |
| 7 | g.21600812C>A | CA366945188 | DNAH11 | c.3137C>A (p.Ala1046Asp) | |
| 7 | g.21600812C>G | CA366945187 | DNAH11 | c.3137C>G (p.Ala1046Gly) | |
| 7 | g.21600812C>T | CA366945186 | DNAH11 | c.3137C>T (p.Ala1046Val) | COSMIC COSMIC |
| 7 | g.21600813T>A | CA454139278 | DNAH11 | c.3138T>A (p.Ala1046=) | |
| 7 | g.21600813T>C | CA454139277 | DNAH11 | c.3138T>C (p.Ala1046=) | |
| 7 | g.21600813T>G | CA454139276 | DNAH11 | c.3138T>G (p.Ala1046=) | |
| 7 | g.21600814G>A | CA4179538 | DNAH11 | c.3139G>A (p.Glu1047Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21600814G>C | CA366945189 | DNAH11 | c.3139G>C (p.Glu1047Gln) | |
| 7 | g.21600814G= | CA1693580480 | DNAH11 | c.3139G= (p.Glu1047=) | |
| 7 | g.21600814G>T | CA366945190 | DNAH11 | c.3139G>T (p.Glu1047Ter) | |
| 7 | g.21600815A>C | CA366945191 | DNAH11 | c.3140A>C (p.Glu1047Ala) | |
| 7 | g.21600815A>G | CA366945192 | DNAH11 | c.3140A>G (p.Glu1047Gly) | |
| 7 | g.21600815A>T | CA366945193 | DNAH11 | c.3140A>T (p.Glu1047Val) | |
| 7 | g.21600816G>A | CA454139279 | DNAH11 | c.3141G>A (p.Glu1047=) | |
| 7 | g.21600816G>C | CA155087800 | DNAH11 | c.3141G>C (p.Glu1047Asp) | ClinVar dbSNP gnomAD v4 |
| 7 | g.21600816G= | CA1693580484 | DNAH11 | c.3141G= (p.Glu1047=) | |
| 7 | g.21600816G>T | CA366945194 | DNAH11 | c.3141G>T (p.Glu1047Asp) | |
| 7 | g.21600817T>A | CA366945195 | DNAH11 | c.3142T>A (p.Phe1048Ile) | |
| 7 | g.21600817T>C | CA366945196 | DNAH11 | c.3142T>C (p.Phe1048Leu) | |
| 7 | g.21600817T>G | CA366945197 | DNAH11 | c.3142T>G (p.Phe1048Val) | |
| 7 | g.21600818_21600819del | CA2578865551 | DNAH11 | c.3143_3144del (p.Phe1048TyrfsTer15) | |
| 7 | g.21600818T>A | CA366945199 | DNAH11 | c.3143T>A (p.Phe1048Tyr) | |
| 7 | g.21600818T>C | CA366945198 | DNAH11 | c.3143T>C (p.Phe1048Ser) | ClinVar dbSNP |
| 7 | g.21600818T>G | CA155087801 | DNAH11 | c.3143T>G (p.Phe1048Cys) | dbSNP |
| 7 | g.21600818T= | CA1693580490 | DNAH11 | c.3143T= (p.Phe1048=) | |
| 7 | g.21600819T>A | CA366945200 | DNAH11 | c.3144T>A (p.Phe1048Leu) | COSMIC COSMIC |
| 7 | g.21600819T>C | CA454139280 | DNAH11 | c.3144T>C (p.Phe1048=) | |
| 7 | g.21600819T>G | CA366945201 | DNAH11 | c.3144T>G (p.Phe1048Leu) | |
| 7 | g.21600820A= | CA1693580494 | DNAH11 | c.3145A= (p.Met1049=) | |
| 7 | g.21600820A>C | CA366945202 | DNAH11 | c.3145A>C (p.Met1049Leu) | |
| 7 | g.21600820A>G | CA366945203 | DNAH11 | c.3145A>G (p.Met1049Val) | |
| 7 | g.21600820A>T | CA366945204 | DNAH11 | c.3145A>T (p.Met1049Leu) | dbSNP gnomAD v4 |