WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13793475_13793563del | CA2673271229 | DNAH5 | c.8177_8224+41del c.8132_8179+41del n.8384_8431+41del c.8285_8332+41del c.7190_7237+41del c.3374_3421+41del c.2927_2974+41del c.2264_2311+41del c.6779_6826+41del n.8302_8349+41del | gnomAD v4 |
| 5 | g.13793540A>C | CA443265718 | DNAH5 | c.8199T>G (p.Ser2733=) c.8154T>G (p.Ser2718=) n.8406T>G c.8307T>G (p.Ser2769=) c.7212T>G (p.Ser2404=) c.3396T>G (p.Ser1132=) c.2949T>G (p.Ser983=) c.2286T>G (p.Ser762=) c.6801T>G (p.Ser2267=) n.8324T>G | |
| 5 | g.13793540A>G | CA443265721 | DNAH5 | c.8199T>C (p.Ser2733=) c.8154T>C (p.Ser2718=) n.8406T>C c.8307T>C (p.Ser2769=) c.7212T>C (p.Ser2404=) c.3396T>C (p.Ser1132=) c.2949T>C (p.Ser983=) c.2286T>C (p.Ser762=) c.6801T>C (p.Ser2267=) n.8324T>C | |
| 5 | g.13793540A>T | CA443265723 | DNAH5 | c.8199T>A (p.Ser2733=) c.8154T>A (p.Ser2718=) n.8406T>A c.8307T>A (p.Ser2769=) c.7212T>A (p.Ser2404=) c.3396T>A (p.Ser1132=) c.2949T>A (p.Ser983=) c.2286T>A (p.Ser762=) c.6801T>A (p.Ser2267=) n.8324T>A | |
| 5 | g.13793541G>A | CA359220947 | DNAH5 | c.8198C>T (p.Ser2733Phe) c.8153C>T (p.Ser2718Phe) n.8405C>T c.8306C>T (p.Ser2769Phe) c.7211C>T (p.Ser2404Phe) c.3395C>T (p.Ser1132Phe) c.2948C>T (p.Ser983Phe) c.2285C>T (p.Ser762Phe) c.6800C>T (p.Ser2267Phe) n.8323C>T | |
| 5 | g.13793541G>C | CA359220950 | DNAH5 | c.8198C>G (p.Ser2733Cys) c.8153C>G (p.Ser2718Cys) n.8405C>G c.8306C>G (p.Ser2769Cys) c.7211C>G (p.Ser2404Cys) c.3395C>G (p.Ser1132Cys) c.2948C>G (p.Ser983Cys) c.2285C>G (p.Ser762Cys) c.6800C>G (p.Ser2267Cys) n.8323C>G | |
| 5 | g.13793541G>T | CA359220952 | DNAH5 | c.8198C>A (p.Ser2733Tyr) c.8153C>A (p.Ser2718Tyr) n.8405C>A c.8306C>A (p.Ser2769Tyr) c.7211C>A (p.Ser2404Tyr) c.3395C>A (p.Ser1132Tyr) c.2948C>A (p.Ser983Tyr) c.2285C>A (p.Ser762Tyr) c.6800C>A (p.Ser2267Tyr) n.8323C>A | |
| 5 | g.13793542A= | CA1528441628 | DNAH5 | c.8197T= (p.Ser2733=) c.8152T= (p.Ser2718=) n.8404T= c.8305T= (p.Ser2769=) c.7210T= (p.Ser2404=) c.3394T= (p.Ser1132=) c.2947T= (p.Ser983=) c.2284T= (p.Ser762=) c.6799T= (p.Ser2267=) n.8322T= | |
| 5 | g.13793542A>C | CA359220955 | DNAH5 | c.8197T>G (p.Ser2733Ala) c.8152T>G (p.Ser2718Ala) n.8404T>G c.8305T>G (p.Ser2769Ala) c.7210T>G (p.Ser2404Ala) c.3394T>G (p.Ser1132Ala) c.2947T>G (p.Ser983Ala) c.2284T>G (p.Ser762Ala) c.6799T>G (p.Ser2267Ala) n.8322T>G | gnomAD v4 |
| 5 | g.13793542A>G | CA359220956 | DNAH5 | c.8197T>C (p.Ser2733Pro) c.8152T>C (p.Ser2718Pro) n.8404T>C c.8305T>C (p.Ser2769Pro) c.7210T>C (p.Ser2404Pro) c.3394T>C (p.Ser1132Pro) c.2947T>C (p.Ser983Pro) c.2284T>C (p.Ser762Pro) c.6799T>C (p.Ser2267Pro) n.8322T>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13793542A>T | CA359220958 | DNAH5 | c.8197T>A (p.Ser2733Thr) c.8152T>A (p.Ser2718Thr) n.8404T>A c.8305T>A (p.Ser2769Thr) c.7210T>A (p.Ser2404Thr) c.3394T>A (p.Ser1132Thr) c.2947T>A (p.Ser983Thr) c.2284T>A (p.Ser762Thr) c.6799T>A (p.Ser2267Thr) n.8322T>A | |
| 5 | g.13793543G>A | CA443265738 | DNAH5 | c.8196C>T (p.Pro2732=) c.8151C>T (p.Pro2717=) n.8403C>T c.8304C>T (p.Pro2768=) c.7209C>T (p.Pro2403=) c.3393C>T (p.Pro1131=) c.2946C>T (p.Pro982=) c.2283C>T (p.Pro761=) c.6798C>T (p.Pro2266=) n.8321C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13793543G>C | CA443265740 | DNAH5 | c.8196C>G (p.Pro2732=) c.8151C>G (p.Pro2717=) n.8403C>G c.8304C>G (p.Pro2768=) c.7209C>G (p.Pro2403=) c.3393C>G (p.Pro1131=) c.2946C>G (p.Pro982=) c.2283C>G (p.Pro761=) c.6798C>G (p.Pro2266=) n.8321C>G | |
| 5 | g.13793543G= | CA1528441629 | DNAH5 | c.8196C= (p.Pro2732=) c.8151C= (p.Pro2717=) n.8403C= c.8304C= (p.Pro2768=) c.7209C= (p.Pro2403=) c.3393C= (p.Pro1131=) c.2946C= (p.Pro982=) c.2283C= (p.Pro761=) c.6798C= (p.Pro2266=) n.8321C= | |
| 5 | g.13793543G>T | CA443265742 | DNAH5 | c.8196C>A (p.Pro2732=) c.8151C>A (p.Pro2717=) n.8403C>A c.8304C>A (p.Pro2768=) c.7209C>A (p.Pro2403=) c.3393C>A (p.Pro1131=) c.2946C>A (p.Pro982=) c.2283C>A (p.Pro761=) c.6798C>A (p.Pro2266=) n.8321C>A | |
| 5 | g.13793544G>A | CA359220967 | DNAH5 | c.8195C>T (p.Pro2732Leu) c.8150C>T (p.Pro2717Leu) n.8402C>T c.8303C>T (p.Pro2768Leu) c.7208C>T (p.Pro2403Leu) c.3392C>T (p.Pro1131Leu) c.2945C>T (p.Pro982Leu) c.2282C>T (p.Pro761Leu) c.6797C>T (p.Pro2266Leu) n.8320C>T | gnomAD v4 |
| 5 | g.13793544G>C | CA359220959 | DNAH5 | c.8195C>G (p.Pro2732Arg) c.8150C>G (p.Pro2717Arg) n.8402C>G c.8303C>G (p.Pro2768Arg) c.7208C>G (p.Pro2403Arg) c.3392C>G (p.Pro1131Arg) c.2945C>G (p.Pro982Arg) c.2282C>G (p.Pro761Arg) c.6797C>G (p.Pro2266Arg) n.8320C>G | |
| 5 | g.13793544G>T | CA359220961 | DNAH5 | c.8195C>A (p.Pro2732His) c.8150C>A (p.Pro2717His) n.8402C>A c.8303C>A (p.Pro2768His) c.7208C>A (p.Pro2403His) c.3392C>A (p.Pro1131His) c.2945C>A (p.Pro982His) c.2282C>A (p.Pro761His) c.6797C>A (p.Pro2266His) n.8320C>A | gnomAD v4 |
| 5 | g.13793545G>A | CA359220971 | DNAH5 | c.8194C>T (p.Pro2732Ser) c.8149C>T (p.Pro2717Ser) n.8401C>T c.8302C>T (p.Pro2768Ser) c.7207C>T (p.Pro2403Ser) c.3391C>T (p.Pro1131Ser) c.2944C>T (p.Pro982Ser) c.2281C>T (p.Pro761Ser) c.6796C>T (p.Pro2266Ser) n.8319C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13793545G>C | CA359220983 | DNAH5 | c.8194C>G (p.Pro2732Ala) c.8149C>G (p.Pro2717Ala) n.8401C>G c.8302C>G (p.Pro2768Ala) c.7207C>G (p.Pro2403Ala) c.3391C>G (p.Pro1131Ala) c.2944C>G (p.Pro982Ala) c.2281C>G (p.Pro761Ala) c.6796C>G (p.Pro2266Ala) n.8319C>G | |
| 5 | g.13793545G= | CA1528441630 | DNAH5 | c.8194C= (p.Pro2732=) c.8149C= (p.Pro2717=) n.8401C= c.8302C= (p.Pro2768=) c.7207C= (p.Pro2403=) c.3391C= (p.Pro1131=) c.2944C= (p.Pro982=) c.2281C= (p.Pro761=) c.6796C= (p.Pro2266=) n.8319C= | |
| 5 | g.13793545G>T | CA359220988 | DNAH5 | c.8194C>A (p.Pro2732Thr) c.8149C>A (p.Pro2717Thr) n.8401C>A c.8302C>A (p.Pro2768Thr) c.7207C>A (p.Pro2403Thr) c.3391C>A (p.Pro1131Thr) c.2944C>A (p.Pro982Thr) c.2281C>A (p.Pro761Thr) c.6796C>A (p.Pro2266Thr) n.8319C>A | |
| 5 | g.13793546C>A | CA359220997 | DNAH5 | c.8193G>T (p.Leu2731Phe) c.8148G>T (p.Leu2716Phe) n.8400G>T c.8301G>T (p.Leu2767Phe) c.7206G>T (p.Leu2402Phe) c.3390G>T (p.Leu1130Phe) c.2943G>T (p.Leu981Phe) c.2280G>T (p.Leu760Phe) c.6795G>T (p.Leu2265Phe) n.8318G>T | |
| 5 | g.13793546C= | CA1528441631 | DNAH5 | c.8193G= (p.Leu2731=) c.8148G= (p.Leu2716=) n.8400G= c.8301G= (p.Leu2767=) c.7206G= (p.Leu2402=) c.3390G= (p.Leu1130=) c.2943G= (p.Leu981=) c.2280G= (p.Leu760=) c.6795G= (p.Leu2265=) n.8318G= | |
| 5 | g.13793546C>G | CA3202879 | DNAH5 | c.8193G>C (p.Leu2731Phe) c.8148G>C (p.Leu2716Phe) n.8400G>C c.8301G>C (p.Leu2767Phe) c.7206G>C (p.Leu2402Phe) c.3390G>C (p.Leu1130Phe) c.2943G>C (p.Leu981Phe) c.2280G>C (p.Leu760Phe) c.6795G>C (p.Leu2265Phe) n.8318G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13793546C>T | CA443265762 | DNAH5 | c.8193G>A (p.Leu2731=) c.8148G>A (p.Leu2716=) n.8400G>A c.8301G>A (p.Leu2767=) c.7206G>A (p.Leu2402=) c.3390G>A (p.Leu1130=) c.2943G>A (p.Leu981=) c.2280G>A (p.Leu760=) c.6795G>A (p.Leu2265=) n.8318G>A | gnomAD v4 |
| 5 | g.13793547A>C | CA359221001 | DNAH5 | c.8192T>G (p.Leu2731Trp) c.8147T>G (p.Leu2716Trp) n.8399T>G c.8300T>G (p.Leu2767Trp) c.7205T>G (p.Leu2402Trp) c.3389T>G (p.Leu1130Trp) c.2942T>G (p.Leu981Trp) c.2279T>G (p.Leu760Trp) c.6794T>G (p.Leu2265Trp) n.8317T>G | |
| 5 | g.13793547A>G | CA359221002 | DNAH5 | c.8192T>C (p.Leu2731Ser) c.8147T>C (p.Leu2716Ser) n.8399T>C c.8300T>C (p.Leu2767Ser) c.7205T>C (p.Leu2402Ser) c.3389T>C (p.Leu1130Ser) c.2942T>C (p.Leu981Ser) c.2279T>C (p.Leu760Ser) c.6794T>C (p.Leu2265Ser) n.8317T>C | |
| 5 | g.13793547A>T | CA359221003 | DNAH5 | c.8192T>A (p.Leu2731Ter) c.8147T>A (p.Leu2716Ter) n.8399T>A c.8300T>A (p.Leu2767Ter) c.7205T>A (p.Leu2402Ter) c.3389T>A (p.Leu1130Ter) c.2942T>A (p.Leu981Ter) c.2279T>A (p.Leu760Ter) c.6794T>A (p.Leu2265Ter) n.8317T>A | |
| 5 | g.13793548A>C | CA359221006 | DNAH5 | c.8191T>G (p.Leu2731Val) c.8146T>G (p.Leu2716Val) n.8398T>G c.8299T>G (p.Leu2767Val) c.7204T>G (p.Leu2402Val) c.3388T>G (p.Leu1130Val) c.2941T>G (p.Leu981Val) c.2278T>G (p.Leu760Val) c.6793T>G (p.Leu2265Val) n.8316T>G | |
| 5 | g.13793548A>G | CA443265775 | DNAH5 | c.8191T>C (p.Leu2731=) c.8146T>C (p.Leu2716=) n.8398T>C c.8299T>C (p.Leu2767=) c.7204T>C (p.Leu2402=) c.3388T>C (p.Leu1130=) c.2941T>C (p.Leu981=) c.2278T>C (p.Leu760=) c.6793T>C (p.Leu2265=) n.8316T>C | |
| 5 | g.13793548A>T | CA359221009 | DNAH5 | c.8191T>A (p.Leu2731Met) c.8146T>A (p.Leu2716Met) n.8398T>A c.8299T>A (p.Leu2767Met) c.7204T>A (p.Leu2402Met) c.3388T>A (p.Leu1130Met) c.2941T>A (p.Leu981Met) c.2278T>A (p.Leu760Met) c.6793T>A (p.Leu2265Met) n.8316T>A | gnomAD v4 |
| 5 | g.13793549C>A | CA443265780 | DNAH5 | c.8190G>T (p.Thr2730=) c.8145G>T (p.Thr2715=) n.8397G>T c.8298G>T (p.Thr2766=) c.7203G>T (p.Thr2401=) c.3387G>T (p.Thr1129=) c.2940G>T (p.Thr980=) c.2277G>T (p.Thr759=) c.6792G>T (p.Thr2264=) n.8315G>T | gnomAD v4 |
| 5 | g.13793549C= | CA1528441632 | DNAH5 | c.8190G= (p.Thr2730=) c.8145G= (p.Thr2715=) n.8397G= c.8298G= (p.Thr2766=) c.7203G= (p.Thr2401=) c.3387G= (p.Thr1129=) c.2940G= (p.Thr980=) c.2277G= (p.Thr759=) c.6792G= (p.Thr2264=) n.8315G= | |
| 5 | g.13793549C>G | CA443265782 | DNAH5 | c.8190G>C (p.Thr2730=) c.8145G>C (p.Thr2715=) n.8397G>C c.8298G>C (p.Thr2766=) c.7203G>C (p.Thr2401=) c.3387G>C (p.Thr1129=) c.2940G>C (p.Thr980=) c.2277G>C (p.Thr759=) c.6792G>C (p.Thr2264=) n.8315G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13793549C>T | CA3202880 | DNAH5 | c.8190G>A (p.Thr2730=) c.8145G>A (p.Thr2715=) n.8397G>A c.8298G>A (p.Thr2766=) c.7203G>A (p.Thr2401=) c.3387G>A (p.Thr1129=) c.2940G>A (p.Thr980=) c.2277G>A (p.Thr759=) c.6792G>A (p.Thr2264=) n.8315G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13793550G>A | CA359221020 | DNAH5 | c.8189C>T (p.Thr2730Met) c.8144C>T (p.Thr2715Met) n.8396C>T c.8297C>T (p.Thr2766Met) c.7202C>T (p.Thr2401Met) c.3386C>T (p.Thr1129Met) c.2939C>T (p.Thr980Met) c.2276C>T (p.Thr759Met) c.6791C>T (p.Thr2264Met) n.8314C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13793550G>C | CA359221021 | DNAH5 | c.8189C>G (p.Thr2730Arg) c.8144C>G (p.Thr2715Arg) n.8396C>G c.8297C>G (p.Thr2766Arg) c.7202C>G (p.Thr2401Arg) c.3386C>G (p.Thr1129Arg) c.2939C>G (p.Thr980Arg) c.2276C>G (p.Thr759Arg) c.6791C>G (p.Thr2264Arg) n.8314C>G | |
| 5 | g.13793550G= | CA1528441633 | DNAH5 | c.8189C= (p.Thr2730=) c.8144C= (p.Thr2715=) n.8396C= c.8297C= (p.Thr2766=) c.7202C= (p.Thr2401=) c.3386C= (p.Thr1129=) c.2939C= (p.Thr980=) c.2276C= (p.Thr759=) c.6791C= (p.Thr2264=) n.8314C= | |
| 5 | g.13793550G>T | CA359221017 | DNAH5 | c.8189C>A (p.Thr2730Lys) c.8144C>A (p.Thr2715Lys) n.8396C>A c.8297C>A (p.Thr2766Lys) c.7202C>A (p.Thr2401Lys) c.3386C>A (p.Thr1129Lys) c.2939C>A (p.Thr980Lys) c.2276C>A (p.Thr759Lys) c.6791C>A (p.Thr2264Lys) n.8314C>A | |
| 5 | g.13793551T>A | CA359221024 | DNAH5 | c.8188A>T (p.Thr2730Ser) c.8143A>T (p.Thr2715Ser) n.8395A>T c.8296A>T (p.Thr2766Ser) c.7201A>T (p.Thr2401Ser) c.3385A>T (p.Thr1129Ser) c.2938A>T (p.Thr980Ser) c.2275A>T (p.Thr759Ser) c.6790A>T (p.Thr2264Ser) n.8313A>T | dbSNP COSMIC |
| 5 | g.13793551T>C | CA359221037 | DNAH5 | c.8188A>G (p.Thr2730Ala) c.8143A>G (p.Thr2715Ala) n.8395A>G c.8296A>G (p.Thr2766Ala) c.7201A>G (p.Thr2401Ala) c.3385A>G (p.Thr1129Ala) c.2938A>G (p.Thr980Ala) c.2275A>G (p.Thr759Ala) c.6790A>G (p.Thr2264Ala) n.8313A>G | |
| 5 | g.13793551T>G | CA359221039 | DNAH5 | c.8188A>C (p.Thr2730Pro) c.8143A>C (p.Thr2715Pro) n.8395A>C c.8296A>C (p.Thr2766Pro) c.7201A>C (p.Thr2401Pro) c.3385A>C (p.Thr1129Pro) c.2938A>C (p.Thr980Pro) c.2275A>C (p.Thr759Pro) c.6790A>C (p.Thr2264Pro) n.8313A>C | |
| 5 | g.13793551T= | CA1528441634 | DNAH5 | c.8188A= (p.Thr2730=) c.8143A= (p.Thr2715=) n.8395A= c.8296A= (p.Thr2766=) c.7201A= (p.Thr2401=) c.3385A= (p.Thr1129=) c.2938A= (p.Thr980=) c.2275A= (p.Thr759=) c.6790A= (p.Thr2264=) n.8313A= | |
| 5 | g.13793552G>A | CA113961717 | DNAH5 | c.8187C>T (p.Cys2729=) c.8142C>T (p.Cys2714=) n.8394C>T c.8295C>T (p.Cys2765=) c.7200C>T (p.Cys2400=) c.3384C>T (p.Cys1128=) c.2937C>T (p.Cys979=) c.2274C>T (p.Cys758=) c.6789C>T (p.Cys2263=) n.8312C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13793552G>C | CA359221042 | DNAH5 | c.8187C>G (p.Cys2729Trp) c.8142C>G (p.Cys2714Trp) n.8394C>G c.8295C>G (p.Cys2765Trp) c.7200C>G (p.Cys2400Trp) c.3384C>G (p.Cys1128Trp) c.2937C>G (p.Cys979Trp) c.2274C>G (p.Cys758Trp) c.6789C>G (p.Cys2263Trp) n.8312C>G | gnomAD v4 |
| 5 | g.13793552G= | CA1528441635 | DNAH5 | c.8187C= (p.Cys2729=) c.8142C= (p.Cys2714=) n.8394C= c.8295C= (p.Cys2765=) c.7200C= (p.Cys2400=) c.3384C= (p.Cys1128=) c.2937C= (p.Cys979=) c.2274C= (p.Cys758=) c.6789C= (p.Cys2263=) n.8312C= | |
| 5 | g.13793552G>T | CA359221045 | DNAH5 | c.8187C>A (p.Cys2729Ter) c.8142C>A (p.Cys2714Ter) n.8394C>A c.8295C>A (p.Cys2765Ter) c.7200C>A (p.Cys2400Ter) c.3384C>A (p.Cys1128Ter) c.2937C>A (p.Cys979Ter) c.2274C>A (p.Cys758Ter) c.6789C>A (p.Cys2263Ter) n.8312C>A | |
| 5 | g.13793553C>A | CA359221054 | DNAH5 | c.8186G>T (p.Cys2729Phe) c.8141G>T (p.Cys2714Phe) n.8393G>T c.8294G>T (p.Cys2765Phe) c.7199G>T (p.Cys2400Phe) c.3383G>T (p.Cys1128Phe) c.2936G>T (p.Cys979Phe) c.2273G>T (p.Cys758Phe) c.6788G>T (p.Cys2263Phe) n.8311G>T | dbSNP gnomAD v4 |
| 5 | g.13793553C= | CA1528441636 | DNAH5 | c.8186G= (p.Cys2729=) c.8141G= (p.Cys2714=) n.8393G= c.8294G= (p.Cys2765=) c.7199G= (p.Cys2400=) c.3383G= (p.Cys1128=) c.2936G= (p.Cys979=) c.2273G= (p.Cys758=) c.6788G= (p.Cys2263=) n.8311G= |