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.37125251C>A | CA359498340 | CPLANE1 | n.1950G>T c.8951G>T (p.Ser2984Ile) n.812G>T c.8789G>T (p.Ser2930Ile) c.5963G>T (n.5963G>T) n.4132G>T n.342-3467G>T c.5987G>T (p.Ser1996Ile) c.8948G>T (p.Ser2983Ile) c.8840G>T (p.Ser2947Ile) c.8822G>T (p.Ser2941Ile) c.5594G>T (p.Ser1865Ile) c.3524G>T (p.Ser1175Ile) c.8897G>T (p.Ser2966Ile) c.8843G>T (p.Ser2948Ile) c.8633G>T (p.Ser2878Ile) c.8279G>T (p.Ser2760Ile) c.6176G>T (p.Ser2059Ile) n.9126G>T c.8762G>T (p.Ser2921Ile) c.7958G>T (p.Ser2653Ile) c.7763G>T (p.Ser2588Ile) n.9175G>T | |
| 5 | g.37125251C= | CA1539667580 | CPLANE1 | n.1950G= c.8951G= (p.Ser2984=) n.812G= c.8789G= (p.Ser2930=) c.5963G= (n.5963G=) n.4132G= n.342-3467G= c.5987G= (p.Ser1996=) c.8948G= (p.Ser2983=) c.8840G= (p.Ser2947=) c.8822G= (p.Ser2941=) c.5594G= (p.Ser1865=) c.3524G= (p.Ser1175=) c.8897G= (p.Ser2966=) c.8843G= (p.Ser2948=) c.8633G= (p.Ser2878=) c.8279G= (p.Ser2760=) c.6176G= (p.Ser2059=) n.9126G= c.8762G= (p.Ser2921=) c.7958G= (p.Ser2653=) c.7763G= (p.Ser2588=) n.9175G= | |
| 5 | g.37125251C>G | CA359498344 | CPLANE1 | n.1950G>C c.8951G>C (p.Ser2984Thr) n.812G>C c.8789G>C (p.Ser2930Thr) c.5963G>C (n.5963G>C) n.4132G>C n.342-3467G>C c.5987G>C (p.Ser1996Thr) c.8948G>C (p.Ser2983Thr) c.8840G>C (p.Ser2947Thr) c.8822G>C (p.Ser2941Thr) c.5594G>C (p.Ser1865Thr) c.3524G>C (p.Ser1175Thr) c.8897G>C (p.Ser2966Thr) c.8843G>C (p.Ser2948Thr) c.8633G>C (p.Ser2878Thr) c.8279G>C (p.Ser2760Thr) c.6176G>C (p.Ser2059Thr) n.9126G>C c.8762G>C (p.Ser2921Thr) c.7958G>C (p.Ser2653Thr) c.7763G>C (p.Ser2588Thr) n.9175G>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37125251C>T | CA359498353 | CPLANE1 | n.1950G>A c.8951G>A (p.Ser2984Asn) n.812G>A c.8789G>A (p.Ser2930Asn) c.5963G>A (n.5963G>A) n.4132G>A n.342-3467G>A c.5987G>A (p.Ser1996Asn) c.8948G>A (p.Ser2983Asn) c.8840G>A (p.Ser2947Asn) c.8822G>A (p.Ser2941Asn) c.5594G>A (p.Ser1865Asn) c.3524G>A (p.Ser1175Asn) c.8897G>A (p.Ser2966Asn) c.8843G>A (p.Ser2948Asn) c.8633G>A (p.Ser2878Asn) c.8279G>A (p.Ser2760Asn) c.6176G>A (p.Ser2059Asn) n.9126G>A c.8762G>A (p.Ser2921Asn) c.7958G>A (p.Ser2653Asn) c.7763G>A (p.Ser2588Asn) n.9175G>A | |
| 5 | g.37125252T>A | CA359498378 | CPLANE1 | n.1949A>T c.8950A>T (p.Ser2984Cys) n.811A>T c.8788A>T (p.Ser2930Cys) c.5962A>T (n.5962A>T) n.4131A>T n.342-3468A>T c.5986A>T (p.Ser1996Cys) c.8947A>T (p.Ser2983Cys) c.8839A>T (p.Ser2947Cys) c.8821A>T (p.Ser2941Cys) c.5593A>T (p.Ser1865Cys) c.3523A>T (p.Ser1175Cys) c.8896A>T (p.Ser2966Cys) c.8842A>T (p.Ser2948Cys) c.8632A>T (p.Ser2878Cys) c.8278A>T (p.Ser2760Cys) c.6175A>T (p.Ser2059Cys) n.9125A>T c.8761A>T (p.Ser2921Cys) c.7957A>T (p.Ser2653Cys) c.7762A>T (p.Ser2588Cys) n.9174A>T | |
| 5 | g.37125252T>C | CA359498371 | CPLANE1 | n.1949A>G c.8950A>G (p.Ser2984Gly) n.811A>G c.8788A>G (p.Ser2930Gly) c.5962A>G (n.5962A>G) n.4131A>G n.342-3468A>G c.5986A>G (p.Ser1996Gly) c.8947A>G (p.Ser2983Gly) c.8839A>G (p.Ser2947Gly) c.8821A>G (p.Ser2941Gly) c.5593A>G (p.Ser1865Gly) c.3523A>G (p.Ser1175Gly) c.8896A>G (p.Ser2966Gly) c.8842A>G (p.Ser2948Gly) c.8632A>G (p.Ser2878Gly) c.8278A>G (p.Ser2760Gly) c.6175A>G (p.Ser2059Gly) n.9125A>G c.8761A>G (p.Ser2921Gly) c.7957A>G (p.Ser2653Gly) c.7762A>G (p.Ser2588Gly) n.9174A>G | |
| 5 | g.37125252T>G | CA359498359 | CPLANE1 | n.1949A>C c.8950A>C (p.Ser2984Arg) n.811A>C c.8788A>C (p.Ser2930Arg) c.5962A>C (n.5962A>C) n.4131A>C n.342-3468A>C c.5986A>C (p.Ser1996Arg) c.8947A>C (p.Ser2983Arg) c.8839A>C (p.Ser2947Arg) c.8821A>C (p.Ser2941Arg) c.5593A>C (p.Ser1865Arg) c.3523A>C (p.Ser1175Arg) c.8896A>C (p.Ser2966Arg) c.8842A>C (p.Ser2948Arg) c.8632A>C (p.Ser2878Arg) c.8278A>C (p.Ser2760Arg) c.6175A>C (p.Ser2059Arg) n.9125A>C c.8761A>C (p.Ser2921Arg) c.7957A>C (p.Ser2653Arg) c.7762A>C (p.Ser2588Arg) n.9174A>C | |
| 5 | g.37125253T>A | CA359498381 | CPLANE1 | n.1948A>T c.8949A>T (p.Arg2983Ser) n.810A>T c.8787A>T (p.Arg2929Ser) c.5961A>T (n.5961A>T) n.4130A>T n.342-3469A>T c.5985A>T (p.Arg1995Ser) c.8946A>T (p.Arg2982Ser) c.8838A>T (p.Arg2946Ser) c.8820A>T (p.Arg2940Ser) c.5592A>T (p.Arg1864Ser) c.3522A>T (p.Arg1174Ser) c.8895A>T (p.Arg2965Ser) c.8841A>T (p.Arg2947Ser) c.8631A>T (p.Arg2877Ser) c.8277A>T (p.Arg2759Ser) c.6174A>T (p.Arg2058Ser) n.9124A>T c.8760A>T (p.Arg2920Ser) c.7956A>T (p.Arg2652Ser) c.7761A>T (p.Arg2587Ser) n.9173A>T | |
| 5 | g.37125253T>C | CA443921978 | CPLANE1 | n.1948A>G c.8949A>G (p.Arg2983=) n.810A>G c.8787A>G (p.Arg2929=) c.5961A>G (n.5961A>G) n.4130A>G n.342-3469A>G c.5985A>G (p.Arg1995=) c.8946A>G (p.Arg2982=) c.8838A>G (p.Arg2946=) c.8820A>G (p.Arg2940=) c.5592A>G (p.Arg1864=) c.3522A>G (p.Arg1174=) c.8895A>G (p.Arg2965=) c.8841A>G (p.Arg2947=) c.8631A>G (p.Arg2877=) c.8277A>G (p.Arg2759=) c.6174A>G (p.Arg2058=) n.9124A>G c.8760A>G (p.Arg2920=) c.7956A>G (p.Arg2652=) c.7761A>G (p.Arg2587=) n.9173A>G | |
| 5 | g.37125253T>G | CA359498382 | CPLANE1 | n.1948A>C c.8949A>C (p.Arg2983Ser) n.810A>C c.8787A>C (p.Arg2929Ser) c.5961A>C (n.5961A>C) n.4130A>C n.342-3469A>C c.5985A>C (p.Arg1995Ser) c.8946A>C (p.Arg2982Ser) c.8838A>C (p.Arg2946Ser) c.8820A>C (p.Arg2940Ser) c.5592A>C (p.Arg1864Ser) c.3522A>C (p.Arg1174Ser) c.8895A>C (p.Arg2965Ser) c.8841A>C (p.Arg2947Ser) c.8631A>C (p.Arg2877Ser) c.8277A>C (p.Arg2759Ser) c.6174A>C (p.Arg2058Ser) n.9124A>C c.8760A>C (p.Arg2920Ser) c.7956A>C (p.Arg2652Ser) c.7761A>C (p.Arg2587Ser) n.9173A>C | |
| 5 | g.37125254C>A | CA359498383 | CPLANE1 | n.1947G>T c.8948G>T (p.Arg2983Ile) n.809G>T c.8786G>T (p.Arg2929Ile) c.5960G>T (n.5960G>T) n.4129G>T n.342-3470G>T c.5984G>T (p.Arg1995Ile) c.8945G>T (p.Arg2982Ile) c.8837G>T (p.Arg2946Ile) c.8819G>T (p.Arg2940Ile) c.5591G>T (p.Arg1864Ile) c.3521G>T (p.Arg1174Ile) c.8894G>T (p.Arg2965Ile) c.8840G>T (p.Arg2947Ile) c.8630G>T (p.Arg2877Ile) c.8276G>T (p.Arg2759Ile) c.6173G>T (p.Arg2058Ile) n.9123G>T c.8759G>T (p.Arg2920Ile) c.7955G>T (p.Arg2652Ile) c.7760G>T (p.Arg2587Ile) n.9172G>T | |
| 5 | g.37125254C>G | CA359498387 | CPLANE1 | n.1947G>C c.8948G>C (p.Arg2983Thr) n.809G>C c.8786G>C (p.Arg2929Thr) c.5960G>C (n.5960G>C) n.4129G>C n.342-3470G>C c.5984G>C (p.Arg1995Thr) c.8945G>C (p.Arg2982Thr) c.8837G>C (p.Arg2946Thr) c.8819G>C (p.Arg2940Thr) c.5591G>C (p.Arg1864Thr) c.3521G>C (p.Arg1174Thr) c.8894G>C (p.Arg2965Thr) c.8840G>C (p.Arg2947Thr) c.8630G>C (p.Arg2877Thr) c.8276G>C (p.Arg2759Thr) c.6173G>C (p.Arg2058Thr) n.9123G>C c.8759G>C (p.Arg2920Thr) c.7955G>C (p.Arg2652Thr) c.7760G>C (p.Arg2587Thr) n.9172G>C | |
| 5 | g.37125254C>T | CA359498390 | CPLANE1 | n.1947G>A c.8948G>A (p.Arg2983Lys) n.809G>A c.8786G>A (p.Arg2929Lys) c.5960G>A (n.5960G>A) n.4129G>A n.342-3470G>A c.5984G>A (p.Arg1995Lys) c.8945G>A (p.Arg2982Lys) c.8837G>A (p.Arg2946Lys) c.8819G>A (p.Arg2940Lys) c.5591G>A (p.Arg1864Lys) c.3521G>A (p.Arg1174Lys) c.8894G>A (p.Arg2965Lys) c.8840G>A (p.Arg2947Lys) c.8630G>A (p.Arg2877Lys) c.8276G>A (p.Arg2759Lys) c.6173G>A (p.Arg2058Lys) n.9123G>A c.8759G>A (p.Arg2920Lys) c.7955G>A (p.Arg2652Lys) c.7760G>A (p.Arg2587Lys) n.9172G>A | gnomAD v4 |
| 5 | g.37125254_37125271delinsCTGGGACAGAAAGGATCA | CA1539667582 | CPLANE1 | n.1930_1947delinsTGATCCTTTCTGTCCCAG c.8931_8948delinsTGATCCTTTCTGTCCCAG (p.His2977=) n.792_809delinsTGATCCTTTCTGTCCCAG c.8769_8786delinsTGATCCTTTCTGTCCCAG (p.His2923=) c.5943_5960delinsTGATCCTTTCTGTCCCAG (n.5943_5960delinsTGATCCTTTCTGTCCCAG) n.4112_4129delinsTGATCCTTTCTGTCCCAG n.342-3487_342-3470delinsTGATCCTTTCTGTCCCAG c.5967_5984delinsTGATCCTTTCTGTCCCAG (p.His1989=) c.8928_8945delinsTGATCCTTTCTGTCCCAG (p.His2976=) c.8820_8837delinsTGATCCTTTCTGTCCCAG (p.His2940=) c.8802_8819delinsTGATCCTTTCTGTCCCAG (p.His2934=) c.5574_5591delinsTGATCCTTTCTGTCCCAG (p.His1858=) c.3504_3521delinsTGATCCTTTCTGTCCCAG (p.His1168=) c.8877_8894delinsTGATCCTTTCTGTCCCAG (p.His2959=) c.8823_8840delinsTGATCCTTTCTGTCCCAG (p.His2941=) c.8613_8630delinsTGATCCTTTCTGTCCCAG (p.His2871=) c.8259_8276delinsTGATCCTTTCTGTCCCAG (p.His2753=) c.6156_6173delinsTGATCCTTTCTGTCCCAG (p.His2052=) n.9106_9123delinsTGATCCTTTCTGTCCCAG c.8742_8759delinsTGATCCTTTCTGTCCCAG (p.His2914=) c.7938_7955delinsTGATCCTTTCTGTCCCAG (p.His2646=) c.7743_7760delinsTGATCCTTTCTGTCCCAG (p.His2581=) n.9155_9172delinsTGATCCTTTCTGTCCCAG | |
| 5 | g.37125255T>A | CA359498396 | CPLANE1 | n.1946A>T c.8947A>T (p.Arg2983Ter) n.808A>T c.8785A>T (p.Arg2929Ter) c.5959A>T (n.5959A>T) n.4128A>T n.342-3471A>T c.5983A>T (p.Arg1995Ter) c.8944A>T (p.Arg2982Ter) c.8836A>T (p.Arg2946Ter) c.8818A>T (p.Arg2940Ter) c.5590A>T (p.Arg1864Ter) c.3520A>T (p.Arg1174Ter) c.8893A>T (p.Arg2965Ter) c.8839A>T (p.Arg2947Ter) c.8629A>T (p.Arg2877Ter) c.8275A>T (p.Arg2759Ter) c.6172A>T (p.Arg2058Ter) n.9122A>T c.8758A>T (p.Arg2920Ter) c.7954A>T (p.Arg2652Ter) c.7759A>T (p.Arg2587Ter) n.9171A>T | ClinVar dbSNP |
| 5 | g.37125255T>C | CA359498398 | CPLANE1 | n.1946A>G c.8947A>G (p.Arg2983Gly) n.808A>G c.8785A>G (p.Arg2929Gly) c.5959A>G (n.5959A>G) n.4128A>G n.342-3471A>G c.5983A>G (p.Arg1995Gly) c.8944A>G (p.Arg2982Gly) c.8836A>G (p.Arg2946Gly) c.8818A>G (p.Arg2940Gly) c.5590A>G (p.Arg1864Gly) c.3520A>G (p.Arg1174Gly) c.8893A>G (p.Arg2965Gly) c.8839A>G (p.Arg2947Gly) c.8629A>G (p.Arg2877Gly) c.8275A>G (p.Arg2759Gly) c.6172A>G (p.Arg2058Gly) n.9122A>G c.8758A>G (p.Arg2920Gly) c.7954A>G (p.Arg2652Gly) c.7759A>G (p.Arg2587Gly) n.9171A>G | dbSNP |
| 5 | g.37125255T>G | CA443921979 | CPLANE1 | n.1946A>C c.8947A>C (p.Arg2983=) n.808A>C c.8785A>C (p.Arg2929=) c.5959A>C (n.5959A>C) n.4128A>C n.342-3471A>C c.5983A>C (p.Arg1995=) c.8944A>C (p.Arg2982=) c.8836A>C (p.Arg2946=) c.8818A>C (p.Arg2940=) c.5590A>C (p.Arg1864=) c.3520A>C (p.Arg1174=) c.8893A>C (p.Arg2965=) c.8839A>C (p.Arg2947=) c.8629A>C (p.Arg2877=) c.8275A>C (p.Arg2759=) c.6172A>C (p.Arg2058=) n.9122A>C c.8758A>C (p.Arg2920=) c.7954A>C (p.Arg2652=) c.7759A>C (p.Arg2587=) n.9171A>C | |
| 5 | g.37125255T= | CA1539667584 | CPLANE1 | n.1946A= c.8947A= (p.Arg2983=) n.808A= c.8785A= (p.Arg2929=) c.5959A= (n.5959A=) n.4128A= n.342-3471A= c.5983A= (p.Arg1995=) c.8944A= (p.Arg2982=) c.8836A= (p.Arg2946=) c.8818A= (p.Arg2940=) c.5590A= (p.Arg1864=) c.3520A= (p.Arg1174=) c.8893A= (p.Arg2965=) c.8839A= (p.Arg2947=) c.8629A= (p.Arg2877=) c.8275A= (p.Arg2759=) c.6172A= (p.Arg2058=) n.9122A= c.8758A= (p.Arg2920=) c.7954A= (p.Arg2652=) c.7759A= (p.Arg2587=) n.9171A= | |
| 5 | g.37125257_37125273del | CA559295394 | CPLANE1 | n.1930_1946del c.8931_8947del (p.His2977GlnfsTer21) n.792_808del c.8769_8785del (p.His2923GlnfsTer21) c.5943_5959del (n.5943_5959del) n.4112_4128del n.342-3487_342-3471del c.5967_5983del (p.His1989GlnfsTer21) c.8928_8944del (p.His2976GlnfsTer21) c.8820_8836del (p.His2940GlnfsTer21) c.8802_8818del (p.His2934GlnfsTer21) c.5574_5590del (p.His1858GlnfsTer21) c.3504_3520del (p.His1168GlnfsTer21) c.8877_8893del (p.His2959GlnfsTer21) c.8823_8839del (p.His2941GlnfsTer21) c.8613_8629del (p.His2871GlnfsTer21) c.8259_8275del (p.His2753GlnfsTer21) c.6156_6172del (p.His2052GlnfsTer21) n.9106_9122del c.8742_8758del (p.His2914GlnfsTer21) c.7938_7954del (p.His2646GlnfsTer21) c.7743_7759del (p.His2581GlnfsTer21) n.9155_9171del | dbSNP gnomAD v2 |
| 5 | g.37125256G>A | CA443921980 | CPLANE1 | n.1945C>T c.8946C>T (p.Pro2982=) n.807C>T c.8784C>T (p.Pro2928=) c.5958C>T (n.5958C>T) n.4127C>T n.342-3472C>T c.5982C>T (p.Pro1994=) c.8943C>T (p.Pro2981=) c.8835C>T (p.Pro2945=) c.8817C>T (p.Pro2939=) c.5589C>T (p.Pro1863=) c.3519C>T (p.Pro1173=) c.8892C>T (p.Pro2964=) c.8838C>T (p.Pro2946=) c.8628C>T (p.Pro2876=) c.8274C>T (p.Pro2758=) c.6171C>T (p.Pro2057=) n.9121C>T c.8757C>T (p.Pro2919=) c.7953C>T (p.Pro2651=) c.7758C>T (p.Pro2586=) n.9170C>T | |
| 5 | g.37125256G>C | CA443921981 | CPLANE1 | n.1945C>G c.8946C>G (p.Pro2982=) n.807C>G c.8784C>G (p.Pro2928=) c.5958C>G (n.5958C>G) n.4127C>G n.342-3472C>G c.5982C>G (p.Pro1994=) c.8943C>G (p.Pro2981=) c.8835C>G (p.Pro2945=) c.8817C>G (p.Pro2939=) c.5589C>G (p.Pro1863=) c.3519C>G (p.Pro1173=) c.8892C>G (p.Pro2964=) c.8838C>G (p.Pro2946=) c.8628C>G (p.Pro2876=) c.8274C>G (p.Pro2758=) c.6171C>G (p.Pro2057=) n.9121C>G c.8757C>G (p.Pro2919=) c.7953C>G (p.Pro2651=) c.7758C>G (p.Pro2586=) n.9170C>G | |
| 5 | g.37125256G>T | CA443921982 | CPLANE1 | n.1945C>A c.8946C>A (p.Pro2982=) n.807C>A c.8784C>A (p.Pro2928=) c.5958C>A (n.5958C>A) n.4127C>A n.342-3472C>A c.5982C>A (p.Pro1994=) c.8943C>A (p.Pro2981=) c.8835C>A (p.Pro2945=) c.8817C>A (p.Pro2939=) c.5589C>A (p.Pro1863=) c.3519C>A (p.Pro1173=) c.8892C>A (p.Pro2964=) c.8838C>A (p.Pro2946=) c.8628C>A (p.Pro2876=) c.8274C>A (p.Pro2758=) c.6171C>A (p.Pro2057=) n.9121C>A c.8757C>A (p.Pro2919=) c.7953C>A (p.Pro2651=) c.7758C>A (p.Pro2586=) n.9170C>A | |
| 5 | g.37125257G>A | CA359498408 | CPLANE1 | n.1944C>T c.8945C>T (p.Pro2982Leu) n.806C>T c.8783C>T (p.Pro2928Leu) c.5957C>T (n.5957C>T) n.4126C>T n.342-3473C>T c.5981C>T (p.Pro1994Leu) c.8942C>T (p.Pro2981Leu) c.8834C>T (p.Pro2945Leu) c.8816C>T (p.Pro2939Leu) c.5588C>T (p.Pro1863Leu) c.3518C>T (p.Pro1173Leu) c.8891C>T (p.Pro2964Leu) c.8837C>T (p.Pro2946Leu) c.8627C>T (p.Pro2876Leu) c.8273C>T (p.Pro2758Leu) c.6170C>T (p.Pro2057Leu) n.9120C>T c.8756C>T (p.Pro2919Leu) c.7952C>T (p.Pro2651Leu) c.7757C>T (p.Pro2586Leu) n.9169C>T | |
| 5 | g.37125257G>C | CA359498400 | CPLANE1 | n.1944C>G c.8945C>G (p.Pro2982Arg) n.806C>G c.8783C>G (p.Pro2928Arg) c.5957C>G (n.5957C>G) n.4126C>G n.342-3473C>G c.5981C>G (p.Pro1994Arg) c.8942C>G (p.Pro2981Arg) c.8834C>G (p.Pro2945Arg) c.8816C>G (p.Pro2939Arg) c.5588C>G (p.Pro1863Arg) c.3518C>G (p.Pro1173Arg) c.8891C>G (p.Pro2964Arg) c.8837C>G (p.Pro2946Arg) c.8627C>G (p.Pro2876Arg) c.8273C>G (p.Pro2758Arg) c.6170C>G (p.Pro2057Arg) n.9120C>G c.8756C>G (p.Pro2919Arg) c.7952C>G (p.Pro2651Arg) c.7757C>G (p.Pro2586Arg) n.9169C>G | |
| 5 | g.37125257G>T | CA359498404 | CPLANE1 | n.1944C>A c.8945C>A (p.Pro2982His) n.806C>A c.8783C>A (p.Pro2928His) c.5957C>A (n.5957C>A) n.4126C>A n.342-3473C>A c.5981C>A (p.Pro1994His) c.8942C>A (p.Pro2981His) c.8834C>A (p.Pro2945His) c.8816C>A (p.Pro2939His) c.5588C>A (p.Pro1863His) c.3518C>A (p.Pro1173His) c.8891C>A (p.Pro2964His) c.8837C>A (p.Pro2946His) c.8627C>A (p.Pro2876His) c.8273C>A (p.Pro2758His) c.6170C>A (p.Pro2057His) n.9120C>A c.8756C>A (p.Pro2919His) c.7952C>A (p.Pro2651His) c.7757C>A (p.Pro2586His) n.9169C>A | |
| 5 | g.37125258G>A | CA359498414 | CPLANE1 | n.1943C>T c.8944C>T (p.Pro2982Ser) n.805C>T c.8782C>T (p.Pro2928Ser) c.5956C>T (n.5956C>T) n.4125C>T n.342-3474C>T c.5980C>T (p.Pro1994Ser) c.8941C>T (p.Pro2981Ser) c.8833C>T (p.Pro2945Ser) c.8815C>T (p.Pro2939Ser) c.5587C>T (p.Pro1863Ser) c.3517C>T (p.Pro1173Ser) c.8890C>T (p.Pro2964Ser) c.8836C>T (p.Pro2946Ser) c.8626C>T (p.Pro2876Ser) c.8272C>T (p.Pro2758Ser) c.6169C>T (p.Pro2057Ser) n.9119C>T c.8755C>T (p.Pro2919Ser) c.7951C>T (p.Pro2651Ser) c.7756C>T (p.Pro2586Ser) n.9168C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37125258G>C | CA359498417 | CPLANE1 | n.1943C>G c.8944C>G (p.Pro2982Ala) n.805C>G c.8782C>G (p.Pro2928Ala) c.5956C>G (n.5956C>G) n.4125C>G n.342-3474C>G c.5980C>G (p.Pro1994Ala) c.8941C>G (p.Pro2981Ala) c.8833C>G (p.Pro2945Ala) c.8815C>G (p.Pro2939Ala) c.5587C>G (p.Pro1863Ala) c.3517C>G (p.Pro1173Ala) c.8890C>G (p.Pro2964Ala) c.8836C>G (p.Pro2946Ala) c.8626C>G (p.Pro2876Ala) c.8272C>G (p.Pro2758Ala) c.6169C>G (p.Pro2057Ala) n.9119C>G c.8755C>G (p.Pro2919Ala) c.7951C>G (p.Pro2651Ala) c.7756C>G (p.Pro2586Ala) n.9168C>G | |
| 5 | g.37125258G= | CA1539667587 | CPLANE1 | n.1943C= c.8944C= (p.Pro2982=) n.805C= c.8782C= (p.Pro2928=) c.5956C= (n.5956C=) n.4125C= n.342-3474C= c.5980C= (p.Pro1994=) c.8941C= (p.Pro2981=) c.8833C= (p.Pro2945=) c.8815C= (p.Pro2939=) c.5587C= (p.Pro1863=) c.3517C= (p.Pro1173=) c.8890C= (p.Pro2964=) c.8836C= (p.Pro2946=) c.8626C= (p.Pro2876=) c.8272C= (p.Pro2758=) c.6169C= (p.Pro2057=) n.9119C= c.8755C= (p.Pro2919=) c.7951C= (p.Pro2651=) c.7756C= (p.Pro2586=) n.9168C= | |
| 5 | g.37125258G>T | CA359498418 | CPLANE1 | n.1943C>A c.8944C>A (p.Pro2982Thr) n.805C>A c.8782C>A (p.Pro2928Thr) c.5956C>A (n.5956C>A) n.4125C>A n.342-3474C>A c.5980C>A (p.Pro1994Thr) c.8941C>A (p.Pro2981Thr) c.8833C>A (p.Pro2945Thr) c.8815C>A (p.Pro2939Thr) c.5587C>A (p.Pro1863Thr) c.3517C>A (p.Pro1173Thr) c.8890C>A (p.Pro2964Thr) c.8836C>A (p.Pro2946Thr) c.8626C>A (p.Pro2876Thr) c.8272C>A (p.Pro2758Thr) c.6169C>A (p.Pro2057Thr) n.9119C>A c.8755C>A (p.Pro2919Thr) c.7951C>A (p.Pro2651Thr) c.7756C>A (p.Pro2586Thr) n.9168C>A | gnomAD v4 |
| 5 | g.37125259A>C | CA359498420 | CPLANE1 | n.1942T>G c.8943T>G (p.Cys2981Trp) n.804T>G c.8781T>G (p.Cys2927Trp) c.5955T>G (n.5955T>G) n.4124T>G n.342-3475T>G c.5979T>G (p.Cys1993Trp) c.8940T>G (p.Cys2980Trp) c.8832T>G (p.Cys2944Trp) c.8814T>G (p.Cys2938Trp) c.5586T>G (p.Cys1862Trp) c.3516T>G (p.Cys1172Trp) c.8889T>G (p.Cys2963Trp) c.8835T>G (p.Cys2945Trp) c.8625T>G (p.Cys2875Trp) c.8271T>G (p.Cys2757Trp) c.6168T>G (p.Cys2056Trp) n.9118T>G c.8754T>G (p.Cys2918Trp) c.7950T>G (p.Cys2650Trp) c.7755T>G (p.Cys2585Trp) n.9167T>G | |
| 5 | g.37125259A>G | CA443921983 | CPLANE1 | n.1942T>C c.8943T>C (p.Cys2981=) n.804T>C c.8781T>C (p.Cys2927=) c.5955T>C (n.5955T>C) n.4124T>C n.342-3475T>C c.5979T>C (p.Cys1993=) c.8940T>C (p.Cys2980=) c.8832T>C (p.Cys2944=) c.8814T>C (p.Cys2938=) c.5586T>C (p.Cys1862=) c.3516T>C (p.Cys1172=) c.8889T>C (p.Cys2963=) c.8835T>C (p.Cys2945=) c.8625T>C (p.Cys2875=) c.8271T>C (p.Cys2757=) c.6168T>C (p.Cys2056=) n.9118T>C c.8754T>C (p.Cys2918=) c.7950T>C (p.Cys2650=) c.7755T>C (p.Cys2585=) n.9167T>C | |
| 5 | g.37125259A>T | CA359498421 | CPLANE1 | n.1942T>A c.8943T>A (p.Cys2981Ter) n.804T>A c.8781T>A (p.Cys2927Ter) c.5955T>A (n.5955T>A) n.4124T>A n.342-3475T>A c.5979T>A (p.Cys1993Ter) c.8940T>A (p.Cys2980Ter) c.8832T>A (p.Cys2944Ter) c.8814T>A (p.Cys2938Ter) c.5586T>A (p.Cys1862Ter) c.3516T>A (p.Cys1172Ter) c.8889T>A (p.Cys2963Ter) c.8835T>A (p.Cys2945Ter) c.8625T>A (p.Cys2875Ter) c.8271T>A (p.Cys2757Ter) c.6168T>A (p.Cys2056Ter) n.9118T>A c.8754T>A (p.Cys2918Ter) c.7950T>A (p.Cys2650Ter) c.7755T>A (p.Cys2585Ter) n.9167T>A | |
| 5 | g.37125260C>A | CA359498424 | CPLANE1 | n.1941G>T c.8942G>T (p.Cys2981Phe) n.803G>T c.8780G>T (p.Cys2927Phe) c.5954G>T (n.5954G>T) n.4123G>T n.342-3476G>T c.5978G>T (p.Cys1993Phe) c.8939G>T (p.Cys2980Phe) c.8831G>T (p.Cys2944Phe) c.8813G>T (p.Cys2938Phe) c.5585G>T (p.Cys1862Phe) c.3515G>T (p.Cys1172Phe) c.8888G>T (p.Cys2963Phe) c.8834G>T (p.Cys2945Phe) c.8624G>T (p.Cys2875Phe) c.8270G>T (p.Cys2757Phe) c.6167G>T (p.Cys2056Phe) n.9117G>T c.8753G>T (p.Cys2918Phe) c.7949G>T (p.Cys2650Phe) c.7754G>T (p.Cys2585Phe) n.9166G>T | |
| 5 | g.37125260C>G | CA359498432 | CPLANE1 | n.1941G>C c.8942G>C (p.Cys2981Ser) n.803G>C c.8780G>C (p.Cys2927Ser) c.5954G>C (n.5954G>C) n.4123G>C n.342-3476G>C c.5978G>C (p.Cys1993Ser) c.8939G>C (p.Cys2980Ser) c.8831G>C (p.Cys2944Ser) c.8813G>C (p.Cys2938Ser) c.5585G>C (p.Cys1862Ser) c.3515G>C (p.Cys1172Ser) c.8888G>C (p.Cys2963Ser) c.8834G>C (p.Cys2945Ser) c.8624G>C (p.Cys2875Ser) c.8270G>C (p.Cys2757Ser) c.6167G>C (p.Cys2056Ser) n.9117G>C c.8753G>C (p.Cys2918Ser) c.7949G>C (p.Cys2650Ser) c.7754G>C (p.Cys2585Ser) n.9166G>C | |
| 5 | g.37125260C>T | CA359498430 | CPLANE1 | n.1941G>A c.8942G>A (p.Cys2981Tyr) n.803G>A c.8780G>A (p.Cys2927Tyr) c.5954G>A (n.5954G>A) n.4123G>A n.342-3476G>A c.5978G>A (p.Cys1993Tyr) c.8939G>A (p.Cys2980Tyr) c.8831G>A (p.Cys2944Tyr) c.8813G>A (p.Cys2938Tyr) c.5585G>A (p.Cys1862Tyr) c.3515G>A (p.Cys1172Tyr) c.8888G>A (p.Cys2963Tyr) c.8834G>A (p.Cys2945Tyr) c.8624G>A (p.Cys2875Tyr) c.8270G>A (p.Cys2757Tyr) c.6167G>A (p.Cys2056Tyr) n.9117G>A c.8753G>A (p.Cys2918Tyr) c.7949G>A (p.Cys2650Tyr) c.7754G>A (p.Cys2585Tyr) n.9166G>A | |
| 5 | g.37125261A>C | CA359498434 | CPLANE1 | n.1940T>G c.8941T>G (p.Cys2981Gly) n.802T>G c.8779T>G (p.Cys2927Gly) c.5953T>G (n.5953T>G) n.4122T>G n.342-3477T>G c.5977T>G (p.Cys1993Gly) c.8938T>G (p.Cys2980Gly) c.8830T>G (p.Cys2944Gly) c.8812T>G (p.Cys2938Gly) c.5584T>G (p.Cys1862Gly) c.3514T>G (p.Cys1172Gly) c.8887T>G (p.Cys2963Gly) c.8833T>G (p.Cys2945Gly) c.8623T>G (p.Cys2875Gly) c.8269T>G (p.Cys2757Gly) c.6166T>G (p.Cys2056Gly) n.9116T>G c.8752T>G (p.Cys2918Gly) c.7948T>G (p.Cys2650Gly) c.7753T>G (p.Cys2585Gly) n.9165T>G | |
| 5 | g.37125261A>G | CA359498435 | CPLANE1 | n.1940T>C c.8941T>C (p.Cys2981Arg) n.802T>C c.8779T>C (p.Cys2927Arg) c.5953T>C (n.5953T>C) n.4122T>C n.342-3477T>C c.5977T>C (p.Cys1993Arg) c.8938T>C (p.Cys2980Arg) c.8830T>C (p.Cys2944Arg) c.8812T>C (p.Cys2938Arg) c.5584T>C (p.Cys1862Arg) c.3514T>C (p.Cys1172Arg) c.8887T>C (p.Cys2963Arg) c.8833T>C (p.Cys2945Arg) c.8623T>C (p.Cys2875Arg) c.8269T>C (p.Cys2757Arg) c.6166T>C (p.Cys2056Arg) n.9116T>C c.8752T>C (p.Cys2918Arg) c.7948T>C (p.Cys2650Arg) c.7753T>C (p.Cys2585Arg) n.9165T>C | |
| 5 | g.37125261A>T | CA359498438 | CPLANE1 | n.1940T>A c.8941T>A (p.Cys2981Ser) n.802T>A c.8779T>A (p.Cys2927Ser) c.5953T>A (n.5953T>A) n.4122T>A n.342-3477T>A c.5977T>A (p.Cys1993Ser) c.8938T>A (p.Cys2980Ser) c.8830T>A (p.Cys2944Ser) c.8812T>A (p.Cys2938Ser) c.5584T>A (p.Cys1862Ser) c.3514T>A (p.Cys1172Ser) c.8887T>A (p.Cys2963Ser) c.8833T>A (p.Cys2945Ser) c.8623T>A (p.Cys2875Ser) c.8269T>A (p.Cys2757Ser) c.6166T>A (p.Cys2056Ser) n.9116T>A c.8752T>A (p.Cys2918Ser) c.7948T>A (p.Cys2650Ser) c.7753T>A (p.Cys2585Ser) n.9165T>A | |
| 5 | g.37125262del | CA645544871 | CPLANE1 | n.1939del c.8940del (p.Cys2981ValfsTer9) n.801del c.8778del (p.Cys2927ValfsTer9) c.5952del (n.5952del) n.4121del n.342-3478del c.5976del (p.Cys1993ValfsTer9) c.8937del (p.Cys2980ValfsTer9) c.8829del (p.Cys2944ValfsTer9) c.8811del (p.Cys2938ValfsTer9) c.5583del (p.Cys1862ValfsTer9) c.3513del (p.Cys1172ValfsTer9) c.8886del (p.Cys2963ValfsTer9) c.8832del (p.Cys2945ValfsTer9) c.8622del (p.Cys2875ValfsTer9) c.8268del (p.Cys2757ValfsTer9) c.6165del (p.Cys2056ValfsTer9) n.9115del c.8751del (p.Cys2918ValfsTer9) c.7947del (p.Cys2650ValfsTer9) c.7752del (p.Cys2585ValfsTer9) n.9164del | COSMIC COSMIC |
| 5 | g.37125262G>A | CA443921984 | CPLANE1 | n.1939C>T c.8940C>T (p.Phe2980=) n.801C>T c.8778C>T (p.Phe2926=) c.5952C>T (n.5952C>T) n.4121C>T n.342-3478C>T c.5976C>T (p.Phe1992=) c.8937C>T (p.Phe2979=) c.8829C>T (p.Phe2943=) c.8811C>T (p.Phe2937=) c.5583C>T (p.Phe1861=) c.3513C>T (p.Phe1171=) c.8886C>T (p.Phe2962=) c.8832C>T (p.Phe2944=) c.8622C>T (p.Phe2874=) c.8268C>T (p.Phe2756=) c.6165C>T (p.Phe2055=) n.9115C>T c.8751C>T (p.Phe2917=) c.7947C>T (p.Phe2649=) c.7752C>T (p.Phe2584=) n.9164C>T | |
| 5 | g.37125262G>C | CA359498440 | CPLANE1 | n.1939C>G c.8940C>G (p.Phe2980Leu) n.801C>G c.8778C>G (p.Phe2926Leu) c.5952C>G (n.5952C>G) n.4121C>G n.342-3478C>G c.5976C>G (p.Phe1992Leu) c.8937C>G (p.Phe2979Leu) c.8829C>G (p.Phe2943Leu) c.8811C>G (p.Phe2937Leu) c.5583C>G (p.Phe1861Leu) c.3513C>G (p.Phe1171Leu) c.8886C>G (p.Phe2962Leu) c.8832C>G (p.Phe2944Leu) c.8622C>G (p.Phe2874Leu) c.8268C>G (p.Phe2756Leu) c.6165C>G (p.Phe2055Leu) n.9115C>G c.8751C>G (p.Phe2917Leu) c.7947C>G (p.Phe2649Leu) c.7752C>G (p.Phe2584Leu) n.9164C>G | |
| 5 | g.37125262G>T | CA359498462 | CPLANE1 | n.1939C>A c.8940C>A (p.Phe2980Leu) n.801C>A c.8778C>A (p.Phe2926Leu) c.5952C>A (n.5952C>A) n.4121C>A n.342-3478C>A c.5976C>A (p.Phe1992Leu) c.8937C>A (p.Phe2979Leu) c.8829C>A (p.Phe2943Leu) c.8811C>A (p.Phe2937Leu) c.5583C>A (p.Phe1861Leu) c.3513C>A (p.Phe1171Leu) c.8886C>A (p.Phe2962Leu) c.8832C>A (p.Phe2944Leu) c.8622C>A (p.Phe2874Leu) c.8268C>A (p.Phe2756Leu) c.6165C>A (p.Phe2055Leu) n.9115C>A c.8751C>A (p.Phe2917Leu) c.7947C>A (p.Phe2649Leu) c.7752C>A (p.Phe2584Leu) n.9164C>A | |
| 5 | g.37125263A>C | CA359498467 | CPLANE1 | n.1938T>G c.8939T>G (p.Phe2980Cys) n.800T>G c.8777T>G (p.Phe2926Cys) c.5951T>G (n.5951T>G) n.4120T>G n.342-3479T>G c.5975T>G (p.Phe1992Cys) c.8936T>G (p.Phe2979Cys) c.8828T>G (p.Phe2943Cys) c.8810T>G (p.Phe2937Cys) c.5582T>G (p.Phe1861Cys) c.3512T>G (p.Phe1171Cys) c.8885T>G (p.Phe2962Cys) c.8831T>G (p.Phe2944Cys) c.8621T>G (p.Phe2874Cys) c.8267T>G (p.Phe2756Cys) c.6164T>G (p.Phe2055Cys) n.9114T>G c.8750T>G (p.Phe2917Cys) c.7946T>G (p.Phe2649Cys) c.7751T>G (p.Phe2584Cys) n.9163T>G | |
| 5 | g.37125263A>G | CA359498468 | CPLANE1 | n.1938T>C c.8939T>C (p.Phe2980Ser) n.800T>C c.8777T>C (p.Phe2926Ser) c.5951T>C (n.5951T>C) n.4120T>C n.342-3479T>C c.5975T>C (p.Phe1992Ser) c.8936T>C (p.Phe2979Ser) c.8828T>C (p.Phe2943Ser) c.8810T>C (p.Phe2937Ser) c.5582T>C (p.Phe1861Ser) c.3512T>C (p.Phe1171Ser) c.8885T>C (p.Phe2962Ser) c.8831T>C (p.Phe2944Ser) c.8621T>C (p.Phe2874Ser) c.8267T>C (p.Phe2756Ser) c.6164T>C (p.Phe2055Ser) n.9114T>C c.8750T>C (p.Phe2917Ser) c.7946T>C (p.Phe2649Ser) c.7751T>C (p.Phe2584Ser) n.9163T>C | |
| 5 | g.37125263A>T | CA359498469 | CPLANE1 | n.1938T>A c.8939T>A (p.Phe2980Tyr) n.800T>A c.8777T>A (p.Phe2926Tyr) c.5951T>A (n.5951T>A) n.4120T>A n.342-3479T>A c.5975T>A (p.Phe1992Tyr) c.8936T>A (p.Phe2979Tyr) c.8828T>A (p.Phe2943Tyr) c.8810T>A (p.Phe2937Tyr) c.5582T>A (p.Phe1861Tyr) c.3512T>A (p.Phe1171Tyr) c.8885T>A (p.Phe2962Tyr) c.8831T>A (p.Phe2944Tyr) c.8621T>A (p.Phe2874Tyr) c.8267T>A (p.Phe2756Tyr) c.6164T>A (p.Phe2055Tyr) n.9114T>A c.8750T>A (p.Phe2917Tyr) c.7946T>A (p.Phe2649Tyr) c.7751T>A (p.Phe2584Tyr) n.9163T>A | |
| 5 | g.37125264A>C | CA359498472 | CPLANE1 | n.1937T>G c.8938T>G (p.Phe2980Val) n.799T>G c.8776T>G (p.Phe2926Val) c.5950T>G (n.5950T>G) n.4119T>G n.342-3480T>G c.5974T>G (p.Phe1992Val) c.8935T>G (p.Phe2979Val) c.8827T>G (p.Phe2943Val) c.8809T>G (p.Phe2937Val) c.5581T>G (p.Phe1861Val) c.3511T>G (p.Phe1171Val) c.8884T>G (p.Phe2962Val) c.8830T>G (p.Phe2944Val) c.8620T>G (p.Phe2874Val) c.8266T>G (p.Phe2756Val) c.6163T>G (p.Phe2055Val) n.9113T>G c.8749T>G (p.Phe2917Val) c.7945T>G (p.Phe2649Val) c.7750T>G (p.Phe2584Val) n.9162T>G | gnomAD v4 |
| 5 | g.37125264A>G | CA359498475 | CPLANE1 | n.1937T>C c.8938T>C (p.Phe2980Leu) n.799T>C c.8776T>C (p.Phe2926Leu) c.5950T>C (n.5950T>C) n.4119T>C n.342-3480T>C c.5974T>C (p.Phe1992Leu) c.8935T>C (p.Phe2979Leu) c.8827T>C (p.Phe2943Leu) c.8809T>C (p.Phe2937Leu) c.5581T>C (p.Phe1861Leu) c.3511T>C (p.Phe1171Leu) c.8884T>C (p.Phe2962Leu) c.8830T>C (p.Phe2944Leu) c.8620T>C (p.Phe2874Leu) c.8266T>C (p.Phe2756Leu) c.6163T>C (p.Phe2055Leu) n.9113T>C c.8749T>C (p.Phe2917Leu) c.7945T>C (p.Phe2649Leu) c.7750T>C (p.Phe2584Leu) n.9162T>C | |
| 5 | g.37125264A>T | CA359498477 | CPLANE1 | n.1937T>A c.8938T>A (p.Phe2980Ile) n.799T>A c.8776T>A (p.Phe2926Ile) c.5950T>A (n.5950T>A) n.4119T>A n.342-3480T>A c.5974T>A (p.Phe1992Ile) c.8935T>A (p.Phe2979Ile) c.8827T>A (p.Phe2943Ile) c.8809T>A (p.Phe2937Ile) c.5581T>A (p.Phe1861Ile) c.3511T>A (p.Phe1171Ile) c.8884T>A (p.Phe2962Ile) c.8830T>A (p.Phe2944Ile) c.8620T>A (p.Phe2874Ile) c.8266T>A (p.Phe2756Ile) c.6163T>A (p.Phe2055Ile) n.9113T>A c.8749T>A (p.Phe2917Ile) c.7945T>A (p.Phe2649Ile) c.7750T>A (p.Phe2584Ile) n.9162T>A | |
| 5 | g.37125265A= | CA1539667589 | CPLANE1 | n.1936T= c.8937T= (p.Pro2979=) n.798T= c.8775T= (p.Pro2925=) c.5949T= (n.5949T=) n.4118T= n.342-3481T= c.5973T= (p.Pro1991=) c.8934T= (p.Pro2978=) c.8826T= (p.Pro2942=) c.8808T= (p.Pro2936=) c.5580T= (p.Pro1860=) c.3510T= (p.Pro1170=) c.8883T= (p.Pro2961=) c.8829T= (p.Pro2943=) c.8619T= (p.Pro2873=) c.8265T= (p.Pro2755=) c.6162T= (p.Pro2054=) n.9112T= c.8748T= (p.Pro2916=) c.7944T= (p.Pro2648=) c.7749T= (p.Pro2583=) n.9161T= | |
| 5 | g.37125265A>C | CA443921987 | CPLANE1 | n.1936T>G c.8937T>G (p.Pro2979=) n.798T>G c.8775T>G (p.Pro2925=) c.5949T>G (n.5949T>G) n.4118T>G n.342-3481T>G c.5973T>G (p.Pro1991=) c.8934T>G (p.Pro2978=) c.8826T>G (p.Pro2942=) c.8808T>G (p.Pro2936=) c.5580T>G (p.Pro1860=) c.3510T>G (p.Pro1170=) c.8883T>G (p.Pro2961=) c.8829T>G (p.Pro2943=) c.8619T>G (p.Pro2873=) c.8265T>G (p.Pro2755=) c.6162T>G (p.Pro2054=) n.9112T>G c.8748T>G (p.Pro2916=) c.7944T>G (p.Pro2648=) c.7749T>G (p.Pro2583=) n.9161T>G |