Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.153954686C>A | CA415119766 | HCFC1 | c.3713G>T (p.Ser1238Ile) c.3515G>T (p.Ser1172Ile) c.2804G>T (p.Ser935Ile) | gnomAD v4 |
X | g.153954686C= | CA2466540236 | HCFC1 | c.3713G= (p.Ser1238=) c.3515G= (p.Ser1172=) c.2804G= (p.Ser935=) | |
X | g.153954686C>G | CA415119767 | HCFC1 | c.3713G>C (p.Ser1238Thr) c.3515G>C (p.Ser1172Thr) c.2804G>C (p.Ser935Thr) | |
X | g.153954686C>T | CA415119769 | HCFC1 | c.3713G>A (p.Ser1238Asn) c.3515G>A (p.Ser1172Asn) c.2804G>A (p.Ser935Asn) | dbSNP |
X | g.153954687T>A | CA415119771 | HCFC1 | c.3712A>T (p.Ser1238Cys) c.3514A>T (p.Ser1172Cys) c.2803A>T (p.Ser935Cys) | |
X | g.153954687T>C | CA415119773 | HCFC1 | c.3712A>G (p.Ser1238Gly) c.3514A>G (p.Ser1172Gly) c.2803A>G (p.Ser935Gly) | dbSNP gnomAD v3 gnomAD v4 |
X | g.153954687T>G | CA415119774 | HCFC1 | c.3712A>C (p.Ser1238Arg) c.3514A>C (p.Ser1172Arg) c.2803A>C (p.Ser935Arg) | |
X | g.153954687T= | CA2466540237 | HCFC1 | c.3712A= (p.Ser1238=) c.3514A= (p.Ser1172=) c.2803A= (p.Ser935=) | |
X | g.153954688G>A | CA10557148 | HCFC1 | c.3711C>T (p.Val1237=) c.3513C>T (p.Val1171=) c.2802C>T (p.Val934=) | dbSNP ExAC gnomAD v2 |
X | g.153954688G>C | CA519702468 | HCFC1 | c.3711C>G (p.Val1237=) c.3513C>G (p.Val1171=) c.2802C>G (p.Val934=) | |
X | g.153954688G= | CA2466540238 | HCFC1 | c.3711C= (p.Val1237=) c.3513C= (p.Val1171=) c.2802C= (p.Val934=) | |
X | g.153954688G>T | CA519702469 | HCFC1 | c.3711C>A (p.Val1237=) c.3513C>A (p.Val1171=) c.2802C>A (p.Val934=) | |
X | g.153954689A= | CA2466540239 | HCFC1 | c.3710T= (p.Val1237=) c.3512T= (p.Val1171=) c.2801T= (p.Val934=) | |
X | g.153954689A>C | CA415119775 | HCFC1 | c.3710T>G (p.Val1237Gly) c.3512T>G (p.Val1171Gly) c.2801T>G (p.Val934Gly) | |
X | g.153954689A>G | CA415119777 | HCFC1 | c.3710T>C (p.Val1237Ala) c.3512T>C (p.Val1171Ala) c.2801T>C (p.Val934Ala) | |
X | g.153954689A>T | CA10557149 | HCFC1 | c.3710T>A (p.Val1237Asp) c.3512T>A (p.Val1171Asp) c.2801T>A (p.Val934Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153954690C>A | CA415119782 | HCFC1 | c.3709G>T (p.Val1237Phe) c.3511G>T (p.Val1171Phe) c.2800G>T (p.Val934Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153954690C= | CA2466540240 | HCFC1 | c.3709G= (p.Val1237=) c.3511G= (p.Val1171=) c.2800G= (p.Val934=) | |
X | g.153954690C>G | CA415119780 | HCFC1 | c.3709G>C (p.Val1237Leu) c.3511G>C (p.Val1171Leu) c.2800G>C (p.Val934Leu) | |
X | g.153954690C>T | CA415119779 | HCFC1 | c.3709G>A (p.Val1237Ile) c.3511G>A (p.Val1171Ile) c.2800G>A (p.Val934Ile) | |
X | g.153954691C>A | CA519702476 | HCFC1 | c.3708G>T (p.Ala1236=) c.3510G>T (p.Ala1170=) c.2799G>T (p.Ala933=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.153954691C= | CA2466540241 | HCFC1 | c.3708G= (p.Ala1236=) c.3510G= (p.Ala1170=) c.2799G= (p.Ala933=) | |
X | g.153954691C>G | CA519702478 | HCFC1 | c.3708G>C (p.Ala1236=) c.3510G>C (p.Ala1170=) c.2799G>C (p.Ala933=) | ClinVar gnomAD v4 |
X | g.153954691C>T | CA10557150 | HCFC1 | c.3708G>A (p.Ala1236=) c.3510G>A (p.Ala1170=) c.2799G>A (p.Ala933=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153954692G>A | CA10557151 | HCFC1 | c.3707C>T (p.Ala1236Val) c.3509C>T (p.Ala1170Val) c.2798C>T (p.Ala933Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153954692G>C | CA415119785 | HCFC1 | c.3707C>G (p.Ala1236Gly) c.3509C>G (p.Ala1170Gly) c.2798C>G (p.Ala933Gly) | dbSNP gnomAD v2 gnomAD v4 |
X | g.153954692G= | CA2466540242 | HCFC1 | c.3707C= (p.Ala1236=) c.3509C= (p.Ala1170=) c.2798C= (p.Ala933=) | |
X | g.153954692G>T | CA415119786 | HCFC1 | c.3707C>A (p.Ala1236Glu) c.3509C>A (p.Ala1170Glu) c.2798C>A (p.Ala933Glu) | gnomAD v4 |
X | g.153954693C>A | CA415119788 | HCFC1 | c.3706G>T (p.Ala1236Ser) c.3508G>T (p.Ala1170Ser) c.2797G>T (p.Ala933Ser) | COSMIC COSMIC |
X | g.153954693C>G | CA415119790 | HCFC1 | c.3706G>C (p.Ala1236Pro) c.3508G>C (p.Ala1170Pro) c.2797G>C (p.Ala933Pro) | |
X | g.153954693C>T | CA415119792 | HCFC1 | c.3706G>A (p.Ala1236Thr) c.3508G>A (p.Ala1170Thr) c.2797G>A (p.Ala933Thr) | |
X | g.153954694A>C | CA415119793 | HCFC1 | c.3705T>G (p.His1235Gln) c.3507T>G (p.His1169Gln) c.2796T>G (p.His932Gln) | |
X | g.153954694A>G | CA519702485 | HCFC1 | c.3705T>C (p.His1235=) c.3507T>C (p.His1169=) c.2796T>C (p.His932=) | |
X | g.153954694A>T | CA415119794 | HCFC1 | c.3705T>A (p.His1235Gln) c.3507T>A (p.His1169Gln) c.2796T>A (p.His932Gln) | |
X | g.153954695T>A | CA415119795 | HCFC1 | c.3704A>T (p.His1235Leu) c.3506A>T (p.His1169Leu) c.2795A>T (p.His932Leu) | |
X | g.153954695T>C | CA415119797 | HCFC1 | c.3704A>G (p.His1235Arg) c.3506A>G (p.His1169Arg) c.2795A>G (p.His932Arg) | |
X | g.153954695T>G | CA415119799 | HCFC1 | c.3704A>C (p.His1235Pro) c.3506A>C (p.His1169Pro) c.2795A>C (p.His932Pro) | |
X | g.153954696G>A | CA415119803 | HCFC1 | c.3703C>T (p.His1235Tyr) c.3505C>T (p.His1169Tyr) c.2794C>T (p.His932Tyr) | gnomAD v4 |
X | g.153954696G>C | CA415119801 | HCFC1 | c.3703C>G (p.His1235Asp) c.3505C>G (p.His1169Asp) c.2794C>G (p.His932Asp) | |
X | g.153954696G>T | CA415119802 | HCFC1 | c.3703C>A (p.His1235Asn) c.3505C>A (p.His1169Asn) c.2794C>A (p.His932Asn) | |
X | g.153954697G>A | CA519702494 | HCFC1 | c.3702C>T (p.Ser1234=) c.3504C>T (p.Ser1168=) c.2793C>T (p.Ser931=) | gnomAD v4 |
X | g.153954697G>C | CA415119804 | HCFC1 | c.3702C>G (p.Ser1234Arg) c.3504C>G (p.Ser1168Arg) c.2793C>G (p.Ser931Arg) | gnomAD v4 |
X | g.153954697G>T | CA415119805 | HCFC1 | c.3702C>A (p.Ser1234Arg) c.3504C>A (p.Ser1168Arg) c.2793C>A (p.Ser931Arg) | gnomAD v4 |
X | g.153954698C>A | CA415119806 | HCFC1 | c.3701G>T (p.Ser1234Ile) c.3503G>T (p.Ser1168Ile) c.2792G>T (p.Ser931Ile) | |
X | g.153954698C>G | CA415119807 | HCFC1 | c.3701G>C (p.Ser1234Thr) c.3503G>C (p.Ser1168Thr) c.2792G>C (p.Ser931Thr) | |
X | g.153954698C>T | CA415119808 | HCFC1 | c.3701G>A (p.Ser1234Asn) c.3503G>A (p.Ser1168Asn) c.2792G>A (p.Ser931Asn) | gnomAD v4 |
X | g.153954699T>A | CA415119809 | HCFC1 | c.3700A>T (p.Ser1234Cys) c.3502A>T (p.Ser1168Cys) c.2791A>T (p.Ser931Cys) | |
X | g.153954699T>C | CA415119810 | HCFC1 | c.3700A>G (p.Ser1234Gly) c.3502A>G (p.Ser1168Gly) c.2791A>G (p.Ser931Gly) | |
X | g.153954699T>G | CA415119811 | HCFC1 | c.3700A>C (p.Ser1234Arg) c.3502A>C (p.Ser1168Arg) c.2791A>C (p.Ser931Arg) | |
X | g.153954700G>A | CA10557152 | HCFC1 | c.3699C>T (p.His1233=) c.3501C>T (p.His1167=) c.2790C>T (p.His930=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153954700G>C | CA415119815 | HCFC1 | c.3699C>G (p.His1233Gln) c.3501C>G (p.His1167Gln) c.2790C>G (p.His930Gln) | |
X | g.153954700G= | CA2466540243 | HCFC1 | c.3699C= (p.His1233=) c.3501C= (p.His1167=) c.2790C= (p.His930=) | |
X | g.153954700G>T | CA415119816 | HCFC1 | c.3699C>A (p.His1233Gln) c.3501C>A (p.His1167Gln) c.2790C>A (p.His930Gln) | gnomAD v4 |
X | g.153954701T>A | CA415119821 | HCFC1 | c.3698A>T (p.His1233Leu) c.3500A>T (p.His1167Leu) c.2789A>T (p.His930Leu) | |
X | g.153954701T>C | CA415119819 | HCFC1 | c.3698A>G (p.His1233Arg) c.3500A>G (p.His1167Arg) c.2789A>G (p.His930Arg) | dbSNP gnomAD v3 gnomAD v4 |
X | g.153954701T>G | CA415119817 | HCFC1 | c.3698A>C (p.His1233Pro) c.3500A>C (p.His1167Pro) c.2789A>C (p.His930Pro) | |
X | g.153954701T= | CA2466540244 | HCFC1 | c.3698A= (p.His1233=) c.3500A= (p.His1167=) c.2789A= (p.His930=) | |
X | g.153954702G>A | CA337252819 | HCFC1 | c.3697C>T (p.His1233Tyr) c.3499C>T (p.His1167Tyr) c.2788C>T (p.His930Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153954702G>C | CA415119823 | HCFC1 | c.3697C>G (p.His1233Asp) c.3499C>G (p.His1167Asp) c.2788C>G (p.His930Asp) | |
X | g.153954702G= | CA2466540245 | HCFC1 | c.3697C= (p.His1233=) c.3499C= (p.His1167=) c.2788C= (p.His930=) | |
X | g.153954702G>T | CA415119825 | HCFC1 | c.3697C>A (p.His1233Asn) c.3499C>A (p.His1167Asn) c.2788C>A (p.His930Asn) | |
X | g.153954703G>A | CA519702506 | HCFC1 | c.3696C>T (p.Arg1232=) c.3498C>T (p.Arg1166=) c.2787C>T (p.Arg929=) | |
X | g.153954703G>C | CA519702507 | HCFC1 | c.3696C>G (p.Arg1232=) c.3498C>G (p.Arg1166=) c.2787C>G (p.Arg929=) | |
X | g.153954703G>T | CA519702508 | HCFC1 | c.3696C>A (p.Arg1232=) c.3498C>A (p.Arg1166=) c.2787C>A (p.Arg929=) | |
X | g.153954704C>A | CA415119828 | HCFC1 | c.3695G>T (p.Arg1232Leu) c.3497G>T (p.Arg1166Leu) c.2786G>T (p.Arg929Leu) | |
X | g.153954704C= | CA2466540246 | HCFC1 | c.3695G= (p.Arg1232=) c.3497G= (p.Arg1166=) c.2786G= (p.Arg929=) | |
X | g.153954704C>G | CA415119829 | HCFC1 | c.3695G>C (p.Arg1232Pro) c.3497G>C (p.Arg1166Pro) c.2786G>C (p.Arg929Pro) | |
X | g.153954704C>T | CA10557153 | HCFC1 | c.3695G>A (p.Arg1232His) c.3497G>A (p.Arg1166His) c.2786G>A (p.Arg929His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.153954705G>A | CA10557154 | HCFC1 | c.3694C>T (p.Arg1232Cys) c.3496C>T (p.Arg1166Cys) c.2785C>T (p.Arg929Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153954705G>C | CA415119832 | HCFC1 | c.3694C>G (p.Arg1232Gly) c.3496C>G (p.Arg1166Gly) c.2785C>G (p.Arg929Gly) | |
X | g.153954705G= | CA2466540247 | HCFC1 | c.3694C= (p.Arg1232=) c.3496C= (p.Arg1166=) c.2785C= (p.Arg929=) | |
X | g.153954705G>T | CA415119834 | HCFC1 | c.3694C>A (p.Arg1232Ser) c.3496C>A (p.Arg1166Ser) c.2785C>A (p.Arg929Ser) | gnomAD v4 |
X | g.153954706C>A | CA519702509 | HCFC1 | c.3693G>T (p.Gly1231=) c.3495G>T (p.Gly1165=) c.2784G>T (p.Gly928=) | |
X | g.153954706C>G | CA519702514 | HCFC1 | c.3693G>C (p.Gly1231=) c.3495G>C (p.Gly1165=) c.2784G>C (p.Gly928=) | |
X | g.153954706C>T | CA519702512 | HCFC1 | c.3693G>A (p.Gly1231=) c.3495G>A (p.Gly1165=) c.2784G>A (p.Gly928=) | |
X | g.153954707C>A | CA415119836 | HCFC1 | c.3692G>T (p.Gly1231Val) c.3494G>T (p.Gly1165Val) c.2783G>T (p.Gly928Val) | |
X | g.153954707C= | CA2466540248 | HCFC1 | c.3692G= (p.Gly1231=) c.3494G= (p.Gly1165=) c.2783G= (p.Gly928=) | |
X | g.153954707C>G | CA415119838 | HCFC1 | c.3692G>C (p.Gly1231Ala) c.3494G>C (p.Gly1165Ala) c.2783G>C (p.Gly928Ala) | |
X | g.153954707C>T | CA415119840 | HCFC1 | c.3692G>A (p.Gly1231Glu) c.3494G>A (p.Gly1165Glu) c.2783G>A (p.Gly928Glu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.153954708C>A | CA415119842 | HCFC1 | c.3691G>T (p.Gly1231Trp) c.3493G>T (p.Gly1165Trp) c.2782G>T (p.Gly928Trp) | |
X | g.153954708C>G | CA415119844 | HCFC1 | c.3691G>C (p.Gly1231Arg) c.3493G>C (p.Gly1165Arg) c.2782G>C (p.Gly928Arg) | |
X | g.153954708C>T | CA415119843 | HCFC1 | c.3691G>A (p.Gly1231Arg) c.3493G>A (p.Gly1165Arg) c.2782G>A (p.Gly928Arg) | gnomAD v4 |
X | g.153954709C>A | CA519702519 | HCFC1 | c.3690G>T (p.Ala1230=) c.3492G>T (p.Ala1164=) c.2781G>T (p.Ala927=) | gnomAD v4 |
X | g.153954709C= | CA2466540249 | HCFC1 | c.3690G= (p.Ala1230=) c.3492G= (p.Ala1164=) c.2781G= (p.Ala927=) | |
X | g.153954709C>G | CA519702520 | HCFC1 | c.3690G>C (p.Ala1230=) c.3492G>C (p.Ala1164=) c.2781G>C (p.Ala927=) | |
X | g.153954709C>T | CA206502 | HCFC1 | c.3690G>A (p.Ala1230=) c.3492G>A (p.Ala1164=) c.2781G>A (p.Ala927=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153954710G>A | CA10557155 | HCFC1 | c.3689C>T (p.Ala1230Val) c.3491C>T (p.Ala1164Val) c.2780C>T (p.Ala927Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153954710G>C | CA415119847 | HCFC1 | c.3689C>G (p.Ala1230Gly) c.3491C>G (p.Ala1164Gly) c.2780C>G (p.Ala927Gly) | |
X | g.153954710G= | CA2466540250 | HCFC1 | c.3689C= (p.Ala1230=) c.3491C= (p.Ala1164=) c.2780C= (p.Ala927=) | |
X | g.153954710G>T | CA415119848 | HCFC1 | c.3689C>A (p.Ala1230Glu) c.3491C>A (p.Ala1164Glu) c.2780C>A (p.Ala927Glu) | gnomAD v4 |
X | g.153954711C>A | CA415119851 | HCFC1 | c.3688G>T (p.Ala1230Ser) c.3490G>T (p.Ala1164Ser) c.2779G>T (p.Ala927Ser) | |
X | g.153954711C= | CA2466540251 | HCFC1 | c.3688G= (p.Ala1230=) c.3490G= (p.Ala1164=) c.2779G= (p.Ala927=) | |
X | g.153954711C>G | CA415119852 | HCFC1 | c.3688G>C (p.Ala1230Pro) c.3490G>C (p.Ala1164Pro) c.2779G>C (p.Ala927Pro) | |
X | g.153954711C>T | CA10557156 | HCFC1 | c.3688G>A (p.Ala1230Thr) c.3490G>A (p.Ala1164Thr) c.2779G>A (p.Ala927Thr) | dbSNP ExAC gnomAD v2 |
X | g.153954712A>C | CA519702528 | HCFC1 | c.3687T>G (p.Pro1229=) c.3489T>G (p.Pro1163=) c.2778T>G (p.Pro926=) | |
X | g.153954712A>G | CA519702529 | HCFC1 | c.3687T>C (p.Pro1229=) c.3489T>C (p.Pro1163=) c.2778T>C (p.Pro926=) | gnomAD v4 |
X | g.153954712A>T | CA519702530 | HCFC1 | c.3687T>A (p.Pro1229=) c.3489T>A (p.Pro1163=) c.2778T>A (p.Pro926=) | |
X | g.153954713G>A | CA10557157 | HCFC1 | c.3686C>T (p.Pro1229Leu) c.3488C>T (p.Pro1163Leu) c.2777C>T (p.Pro926Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153954713G>C | CA415119855 | HCFC1 | c.3686C>G (p.Pro1229Arg) c.3488C>G (p.Pro1163Arg) c.2777C>G (p.Pro926Arg) | |
X | g.153954713G= | CA2466540252 | HCFC1 | c.3686C= (p.Pro1229=) c.3488C= (p.Pro1163=) c.2777C= (p.Pro926=) | |
X | g.153954713G>T | CA415119857 | HCFC1 | c.3686C>A (p.Pro1229His) c.3488C>A (p.Pro1163His) c.2777C>A (p.Pro926His) | |
X | g.153954714G>A | CA415119859 | HCFC1 | c.3685C>T (p.Pro1229Ser) c.3487C>T (p.Pro1163Ser) c.2776C>T (p.Pro926Ser) | ClinVar dbSNP gnomAD v4 |
X | g.153954714G>C | CA415119861 | HCFC1 | c.3685C>G (p.Pro1229Ala) c.3487C>G (p.Pro1163Ala) c.2776C>G (p.Pro926Ala) | |
X | g.153954714G= | CA2466540253 | HCFC1 | c.3685C= (p.Pro1229=) c.3487C= (p.Pro1163=) c.2776C= (p.Pro926=) | |
X | g.153954714G>T | CA415119862 | HCFC1 | c.3685C>A (p.Pro1229Thr) c.3487C>A (p.Pro1163Thr) c.2776C>A (p.Pro926Thr) | |
X | g.153954715A>C | CA519702534 | HCFC1 | c.3684T>G (p.Leu1228=) c.3486T>G (p.Leu1162=) c.2775T>G (p.Leu925=) | |
X | g.153954715A>G | CA519702535 | HCFC1 | c.3684T>C (p.Leu1228=) c.3486T>C (p.Leu1162=) c.2775T>C (p.Leu925=) | |
X | g.153954715A>T | CA519702536 | HCFC1 | c.3684T>A (p.Leu1228=) c.3486T>A (p.Leu1162=) c.2775T>A (p.Leu925=) | |
X | g.153954716A>C | CA415119868 | HCFC1 | c.3683T>G (p.Leu1228Arg) c.3485T>G (p.Leu1162Arg) c.2774T>G (p.Leu925Arg) | |
X | g.153954716A>G | CA415119864 | HCFC1 | c.3683T>C (p.Leu1228Pro) c.3485T>C (p.Leu1162Pro) c.2774T>C (p.Leu925Pro) | |
X | g.153954716A>T | CA415119866 | HCFC1 | c.3683T>A (p.Leu1228His) c.3485T>A (p.Leu1162His) c.2774T>A (p.Leu925His) | |
X | g.153954717G>A | CA10557158 | HCFC1 | c.3682C>T (p.Leu1228Phe) c.3484C>T (p.Leu1162Phe) c.2773C>T (p.Leu925Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153954717G>C | CA415119870 | HCFC1 | c.3682C>G (p.Leu1228Val) c.3484C>G (p.Leu1162Val) c.2773C>G (p.Leu925Val) | |
X | g.153954717G= | CA2466540254 | HCFC1 | c.3682C= (p.Leu1228=) c.3484C= (p.Leu1162=) c.2773C= (p.Leu925=) | |
X | g.153954717G>T | CA415119872 | HCFC1 | c.3682C>A (p.Leu1228Ile) c.3484C>A (p.Leu1162Ile) c.2773C>A (p.Leu925Ile) | |
X | g.153954718G>A | CA519702542 | HCFC1 | c.3681C>T (p.Asp1227=) c.3483C>T (p.Asp1161=) c.2772C>T (p.Asp924=) | dbSNP gnomAD v2 |
X | g.153954718G>C | CA415119874 | HCFC1 | c.3681C>G (p.Asp1227Glu) c.3483C>G (p.Asp1161Glu) c.2772C>G (p.Asp924Glu) | ClinVar |
X | g.153954718G= | CA2466540255 | HCFC1 | c.3681C= (p.Asp1227=) c.3483C= (p.Asp1161=) c.2772C= (p.Asp924=) | |
X | g.153954718G>T | CA415119875 | HCFC1 | c.3681C>A (p.Asp1227Glu) c.3483C>A (p.Asp1161Glu) c.2772C>A (p.Asp924Glu) | gnomAD v4 |
X | g.153954719T>A | CA415119877 | HCFC1 | c.3680A>T (p.Asp1227Val) c.3482A>T (p.Asp1161Val) c.2771A>T (p.Asp924Val) | |
X | g.153954719T>C | CA415119879 | HCFC1 | c.3680A>G (p.Asp1227Gly) c.3482A>G (p.Asp1161Gly) c.2771A>G (p.Asp924Gly) | |
X | g.153954719T>G | CA415119880 | HCFC1 | c.3680A>C (p.Asp1227Ala) c.3482A>C (p.Asp1161Ala) c.2771A>C (p.Asp924Ala) | |
X | g.153954720C>A | CA415119882 | HCFC1 | c.3679G>T (p.Asp1227Tyr) c.3481G>T (p.Asp1161Tyr) c.2770G>T (p.Asp924Tyr) | |
X | g.153954720C>G | CA415119883 | HCFC1 | c.3679G>C (p.Asp1227His) c.3481G>C (p.Asp1161His) c.2770G>C (p.Asp924His) | |
X | g.153954720C>T | CA415119885 | HCFC1 | c.3679G>A (p.Asp1227Asn) c.3481G>A (p.Asp1161Asn) c.2770G>A (p.Asp924Asn) | |
X | g.153954721C>A | CA415119886 | HCFC1 | c.3678G>T (p.Lys1226Asn) c.3480G>T (p.Lys1160Asn) c.2769G>T (p.Lys923Asn) | |
X | g.153954721C>G | CA415119887 | HCFC1 | c.3678G>C (p.Lys1226Asn) c.3480G>C (p.Lys1160Asn) c.2769G>C (p.Lys923Asn) | |
X | g.153954721C>T | CA519702547 | HCFC1 | c.3678G>A (p.Lys1226=) c.3480G>A (p.Lys1160=) c.2769G>A (p.Lys923=) | |
X | g.153954722T>A | CA415119888 | HCFC1 | c.3677A>T (p.Lys1226Met) c.3479A>T (p.Lys1160Met) c.2768A>T (p.Lys923Met) | |
X | g.153954722T>C | CA415119889 | HCFC1 | c.3677A>G (p.Lys1226Arg) c.3479A>G (p.Lys1160Arg) c.2768A>G (p.Lys923Arg) | |
X | g.153954722T>G | CA415119890 | HCFC1 | c.3677A>C (p.Lys1226Thr) c.3479A>C (p.Lys1160Thr) c.2768A>C (p.Lys923Thr) | |
X | g.153954723T>A | CA415119892 | HCFC1 | c.3676A>T (p.Lys1226Ter) c.3478A>T (p.Lys1160Ter) c.2767A>T (p.Lys923Ter) | |
X | g.153954723T>C | CA415119894 | HCFC1 | c.3676A>G (p.Lys1226Glu) c.3478A>G (p.Lys1160Glu) c.2767A>G (p.Lys923Glu) | |
X | g.153954723T>G | CA415119895 | HCFC1 | c.3676A>C (p.Lys1226Gln) c.3478A>C (p.Lys1160Gln) c.2767A>C (p.Lys923Gln) | |
X | g.153954724A>C | CA415119897 | HCFC1 | c.3675T>G (p.Ile1225Met) c.3477T>G (p.Ile1159Met) c.2766T>G (p.Ile922Met) | |
X | g.153954724A>G | CA519702551 | HCFC1 | c.3675T>C (p.Ile1225=) c.3477T>C (p.Ile1159=) c.2766T>C (p.Ile922=) | |
X | g.153954724A>T | CA519702552 | HCFC1 | c.3675T>A (p.Ile1225=) c.3477T>A (p.Ile1159=) c.2766T>A (p.Ile922=) | |
X | g.153954725A= | CA2466540256 | HCFC1 | c.3674T= (p.Ile1225=) c.3476T= (p.Ile1159=) c.2765T= (p.Ile922=) | |
X | g.153954725A>C | CA415119899 | HCFC1 | c.3674T>G (p.Ile1225Ser) c.3476T>G (p.Ile1159Ser) c.2765T>G (p.Ile922Ser) | |
X | g.153954725A>G | CA415119901 | HCFC1 | c.3674T>C (p.Ile1225Thr) c.3476T>C (p.Ile1159Thr) c.2765T>C (p.Ile922Thr) | ClinVar dbSNP |
X | g.153954725A>T | CA415119903 | HCFC1 | c.3674T>A (p.Ile1225Asn) c.3476T>A (p.Ile1159Asn) c.2765T>A (p.Ile922Asn) | |
X | g.153954726T>A | CA415119908 | HCFC1 | c.3673A>T (p.Ile1225Phe) c.3475A>T (p.Ile1159Phe) c.2764A>T (p.Ile922Phe) | |
X | g.153954726T>C | CA415119907 | HCFC1 | c.3673A>G (p.Ile1225Val) c.3475A>G (p.Ile1159Val) c.2764A>G (p.Ile922Val) | gnomAD v4 |
X | g.153954726T>G | CA415119905 | HCFC1 | c.3673A>C (p.Ile1225Leu) c.3475A>C (p.Ile1159Leu) c.2764A>C (p.Ile922Leu) | |
X | g.153954727G>A | CA519702559 | HCFC1 | c.3672C>T (p.Ser1224=) c.3474C>T (p.Ser1158=) c.2763C>T (p.Ser921=) | dbSNP gnomAD v4 |
X | g.153954727G>C | CA415119910 | HCFC1 | c.3672C>G (p.Ser1224Arg) c.3474C>G (p.Ser1158Arg) c.2763C>G (p.Ser921Arg) | |
X | g.153954727G= | CA2466540257 | HCFC1 | c.3672C= (p.Ser1224=) c.3474C= (p.Ser1158=) c.2763C= (p.Ser921=) | |
X | g.153954727G>T | CA415119912 | HCFC1 | c.3672C>A (p.Ser1224Arg) c.3474C>A (p.Ser1158Arg) c.2763C>A (p.Ser921Arg) | |
X | g.153954728C>A | CA415119914 | HCFC1 | c.3671G>T (p.Ser1224Ile) c.3473G>T (p.Ser1158Ile) c.2762G>T (p.Ser921Ile) | gnomAD v4 |
X | g.153954728C>G | CA415119915 | HCFC1 | c.3671G>C (p.Ser1224Thr) c.3473G>C (p.Ser1158Thr) c.2762G>C (p.Ser921Thr) | |
X | g.153954728C>T | CA415119917 | HCFC1 | c.3671G>A (p.Ser1224Asn) c.3473G>A (p.Ser1158Asn) c.2762G>A (p.Ser921Asn) | |
X | g.153954729T>A | CA415119919 | HCFC1 | c.3670A>T (p.Ser1224Cys) c.3472A>T (p.Ser1158Cys) c.2761A>T (p.Ser921Cys) | |
X | g.153954729T>C | CA415119921 | HCFC1 | c.3670A>G (p.Ser1224Gly) c.3472A>G (p.Ser1158Gly) c.2761A>G (p.Ser921Gly) | gnomAD v4 |
X | g.153954729T>G | CA415119923 | HCFC1 | c.3670A>C (p.Ser1224Arg) c.3472A>C (p.Ser1158Arg) c.2761A>C (p.Ser921Arg) | |
X | g.153954730T>A | CA519702563 | HCFC1 | c.3669A>T (p.Pro1223=) c.3471A>T (p.Pro1157=) c.2760A>T (p.Pro920=) | |
X | g.153954730T>C | CA519702564 | HCFC1 | c.3669A>G (p.Pro1223=) c.3471A>G (p.Pro1157=) c.2760A>G (p.Pro920=) | |
X | g.153954730T>G | CA519702565 | HCFC1 | c.3669A>C (p.Pro1223=) c.3471A>C (p.Pro1157=) c.2760A>C (p.Pro920=) | |
X | g.153954731G>A | CA415119925 | HCFC1 | c.3668C>T (p.Pro1223Leu) c.3470C>T (p.Pro1157Leu) c.2759C>T (p.Pro920Leu) | |
X | g.153954731G>C | CA415119926 | HCFC1 | c.3668C>G (p.Pro1223Arg) c.3470C>G (p.Pro1157Arg) c.2759C>G (p.Pro920Arg) | |
X | g.153954731G>T | CA415119927 | HCFC1 | c.3668C>A (p.Pro1223Gln) c.3470C>A (p.Pro1157Gln) c.2759C>A (p.Pro920Gln) | |
X | g.153954732G>A | CA415119934 | HCFC1 | c.3667C>T (p.Pro1223Ser) c.3469C>T (p.Pro1157Ser) c.2758C>T (p.Pro920Ser) | dbSNP gnomAD v3 gnomAD v4 |
X | g.153954732G>C | CA415119932 | HCFC1 | c.3667C>G (p.Pro1223Ala) c.3469C>G (p.Pro1157Ala) c.2758C>G (p.Pro920Ala) | |
X | g.153954732G= | CA2466540258 | HCFC1 | c.3667C= (p.Pro1223=) c.3469C= (p.Pro1157=) c.2758C= (p.Pro920=) | |
X | g.153954732G>T | CA415119930 | HCFC1 | c.3667C>A (p.Pro1223Thr) c.3469C>A (p.Pro1157Thr) c.2758C>A (p.Pro920Thr) | |
X | g.153954733G>A | CA519702571 | HCFC1 | c.3666C>T (p.Ser1222=) c.3468C>T (p.Ser1156=) c.2757C>T (p.Ser919=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.153954733G>C | CA415119936 | HCFC1 | c.3666C>G (p.Ser1222Arg) c.3468C>G (p.Ser1156Arg) c.2757C>G (p.Ser919Arg) | |
X | g.153954733G= | CA2466540259 | HCFC1 | c.3666C= (p.Ser1222=) c.3468C= (p.Ser1156=) c.2757C= (p.Ser919=) | |
X | g.153954733G>T | CA415119937 | HCFC1 | c.3666C>A (p.Ser1222Arg) c.3468C>A (p.Ser1156Arg) c.2757C>A (p.Ser919Arg) | |
X | g.153954734C>A | CA415119939 | HCFC1 | c.3665G>T (p.Ser1222Ile) c.3467G>T (p.Ser1156Ile) c.2756G>T (p.Ser919Ile) | |
X | g.153954734C>G | CA415119941 | HCFC1 | c.3665G>C (p.Ser1222Thr) c.3467G>C (p.Ser1156Thr) c.2756G>C (p.Ser919Thr) | |
X | g.153954734C>T | CA415119943 | HCFC1 | c.3665G>A (p.Ser1222Asn) c.3467G>A (p.Ser1156Asn) c.2756G>A (p.Ser919Asn) | gnomAD v4 |
X | g.153954735T>A | CA415119945 | HCFC1 | c.3664A>T (p.Ser1222Cys) c.3466A>T (p.Ser1156Cys) c.2755A>T (p.Ser919Cys) | |
X | g.153954735T>C | CA415119947 | HCFC1 | c.3664A>G (p.Ser1222Gly) c.3466A>G (p.Ser1156Gly) c.2755A>G (p.Ser919Gly) | gnomAD v4 |
X | g.153954735T>G | CA415119949 | HCFC1 | c.3664A>C (p.Ser1222Arg) c.3466A>C (p.Ser1156Arg) c.2755A>C (p.Ser919Arg) | |
X | g.153954736G>A | CA519702576 | HCFC1 | c.3663C>T (p.Ser1221=) c.3465C>T (p.Ser1155=) c.2754C>T (p.Ser918=) | gnomAD v4 |
X | g.153954736G>C | CA415119950 | HCFC1 | c.3663C>G (p.Ser1221Arg) c.3465C>G (p.Ser1155Arg) c.2754C>G (p.Ser918Arg) | |
X | g.153954736G>T | CA415119952 | HCFC1 | c.3663C>A (p.Ser1221Arg) c.3465C>A (p.Ser1155Arg) c.2754C>A (p.Ser918Arg) | |
X | g.153954737C>A | CA415119954 | HCFC1 | c.3662G>T (p.Ser1221Ile) c.3464G>T (p.Ser1155Ile) c.2753G>T (p.Ser918Ile) | |
X | g.153954737C>G | CA415119956 | HCFC1 | c.3662G>C (p.Ser1221Thr) c.3464G>C (p.Ser1155Thr) c.2753G>C (p.Ser918Thr) | |
X | g.153954737C>T | CA415119957 | HCFC1 | c.3662G>A (p.Ser1221Asn) c.3464G>A (p.Ser1155Asn) c.2753G>A (p.Ser918Asn) | gnomAD v4 |
X | g.153954738T>A | CA415119960 | HCFC1 | c.3661A>T (p.Ser1221Cys) c.3463A>T (p.Ser1155Cys) c.2752A>T (p.Ser918Cys) | |
X | g.153954738T>C | CA415119959 | HCFC1 | c.3661A>G (p.Ser1221Gly) c.3463A>G (p.Ser1155Gly) c.2752A>G (p.Ser918Gly) | |
X | g.153954738T>G | CA415119958 | HCFC1 | c.3661A>C (p.Ser1221Arg) c.3463A>C (p.Ser1155Arg) c.2752A>C (p.Ser918Arg) | |
X | g.153954739C>A | CA519702581 | HCFC1 | c.3660G>T (p.Leu1220=) c.3462G>T (p.Leu1154=) c.2751G>T (p.Leu917=) | gnomAD v4 |
X | g.153954739C>G | CA519702582 | HCFC1 | c.3660G>C (p.Leu1220=) c.3462G>C (p.Leu1154=) c.2751G>C (p.Leu917=) | |
X | g.153954739C>T | CA519702583 | HCFC1 | c.3660G>A (p.Leu1220=) c.3462G>A (p.Leu1154=) c.2751G>A (p.Leu917=) | gnomAD v4 |
X | g.153954740A>C | CA415119962 | HCFC1 | c.3659T>G (p.Leu1220Arg) c.3461T>G (p.Leu1154Arg) c.2750T>G (p.Leu917Arg) | |
X | g.153954740A>G | CA415119964 | HCFC1 | c.3659T>C (p.Leu1220Pro) c.3461T>C (p.Leu1154Pro) c.2750T>C (p.Leu917Pro) | |
X | g.153954740A>T | CA415119965 | HCFC1 | c.3659T>A (p.Leu1220Gln) c.3461T>A (p.Leu1154Gln) c.2750T>A (p.Leu917Gln) | |
X | g.153954741G>A | CA519702587 | HCFC1 | c.3658C>T (p.Leu1220=) c.3460C>T (p.Leu1154=) c.2749C>T (p.Leu917=) | ClinVar |
X | g.153954741G>C | CA415119967 | HCFC1 | c.3658C>G (p.Leu1220Val) c.3460C>G (p.Leu1154Val) c.2749C>G (p.Leu917Val) | |
X | g.153954741G>T | CA415119969 | HCFC1 | c.3658C>A (p.Leu1220Met) c.3460C>A (p.Leu1154Met) c.2749C>A (p.Leu917Met) | |
X | g.153954742C>A | CA415119971 | HCFC1 | c.3657G>T (p.Arg1219Ser) c.3459G>T (p.Arg1153Ser) c.2748G>T (p.Arg916Ser) | gnomAD v4 |
X | g.153954742C>G | CA415119972 | HCFC1 | c.3657G>C (p.Arg1219Ser) c.3459G>C (p.Arg1153Ser) c.2748G>C (p.Arg916Ser) | |
X | g.153954742C>T | CA519702591 | HCFC1 | c.3657G>A (p.Arg1219=) c.3459G>A (p.Arg1153=) c.2748G>A (p.Arg916=) | |
X | g.153954743C>A | CA415119975 | HCFC1 | c.3656G>T (p.Arg1219Met) c.3458G>T (p.Arg1153Met) c.2747G>T (p.Arg916Met) | |
X | g.153954743C= | CA2466540260 | HCFC1 | c.3656G= (p.Arg1219=) c.3458G= (p.Arg1153=) c.2747G= (p.Arg916=) | |
X | g.153954743C>G | CA415119976 | HCFC1 | c.3656G>C (p.Arg1219Thr) c.3458G>C (p.Arg1153Thr) c.2747G>C (p.Arg916Thr) | dbSNP gnomAD v2 gnomAD v4 |
X | g.153954743C>T | CA415119977 | HCFC1 | c.3656G>A (p.Arg1219Lys) c.3458G>A (p.Arg1153Lys) c.2747G>A (p.Arg916Lys) | gnomAD v4 |
X | g.153954744T>A | CA415119979 | HCFC1 | c.3655A>T (p.Arg1219Trp) c.3457A>T (p.Arg1153Trp) c.2746A>T (p.Arg916Trp) | |
X | g.153954744T>C | CA415119981 | HCFC1 | c.3655A>G (p.Arg1219Gly) c.3457A>G (p.Arg1153Gly) c.2746A>G (p.Arg916Gly) | gnomAD v4 |
X | g.153954744T>G | CA519702595 | HCFC1 | c.3655A>C (p.Arg1219=) c.3457A>C (p.Arg1153=) c.2746A>C (p.Arg916=) | |
X | g.153954745G>A | CA519702597 | HCFC1 | c.3654C>T (p.Val1218=) c.3456C>T (p.Val1152=) c.2745C>T (p.Val915=) | |
X | g.153954745G>C | CA519702599 | HCFC1 | c.3654C>G (p.Val1218=) c.3456C>G (p.Val1152=) c.2745C>G (p.Val915=) | gnomAD v4 |
X | g.153954745G>T | CA519702601 | HCFC1 | c.3654C>A (p.Val1218=) c.3456C>A (p.Val1152=) c.2745C>A (p.Val915=) | gnomAD v4 |
X | g.153954746A>C | CA415119983 | HCFC1 | c.3653T>G (p.Val1218Gly) c.3455T>G (p.Val1152Gly) c.2744T>G (p.Val915Gly) | |
X | g.153954746A>G | CA415119986 | HCFC1 | c.3653T>C (p.Val1218Ala) c.3455T>C (p.Val1152Ala) c.2744T>C (p.Val915Ala) | |
X | g.153954746A>T | CA415119984 | HCFC1 | c.3653T>A (p.Val1218Asp) c.3455T>A (p.Val1152Asp) c.2744T>A (p.Val915Asp) | |
X | g.153954747C>A | CA415119989 | HCFC1 | c.3652G>T (p.Val1218Phe) c.3454G>T (p.Val1152Phe) c.2743G>T (p.Val915Phe) | |
X | g.153954747C= | CA2466540261 | HCFC1 | c.3652G= (p.Val1218=) c.3454G= (p.Val1152=) c.2743G= (p.Val915=) | |
X | g.153954747C>G | CA415119990 | HCFC1 | c.3652G>C (p.Val1218Leu) c.3454G>C (p.Val1152Leu) c.2743G>C (p.Val915Leu) | |
X | g.153954747C>T | CA415119992 | HCFC1 | c.3652G>A (p.Val1218Ile) c.3454G>A (p.Val1152Ile) c.2743G>A (p.Val915Ile) | dbSNP gnomAD v2 |
X | g.153954748T>A | CA415119994 | HCFC1 | c.3651A>T (p.Lys1217Asn) c.3453A>T (p.Lys1151Asn) c.2742A>T (p.Lys914Asn) | |
X | g.153954748T>C | CA519702602 | HCFC1 | c.3651A>G (p.Lys1217=) c.3453A>G (p.Lys1151=) c.2742A>G (p.Lys914=) | |
X | g.153954748T>G | CA415119996 | HCFC1 | c.3651A>C (p.Lys1217Asn) c.3453A>C (p.Lys1151Asn) c.2742A>C (p.Lys914Asn) | |
X | g.153954749T>A | CA415119997 | HCFC1 | c.3650A>T (p.Lys1217Ile) c.3452A>T (p.Lys1151Ile) c.2741A>T (p.Lys914Ile) | |
X | g.153954749T>C | CA10557159 | HCFC1 | c.3650A>G (p.Lys1217Arg) c.3452A>G (p.Lys1151Arg) c.2741A>G (p.Lys914Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153954749T>G | CA415120000 | HCFC1 | c.3650A>C (p.Lys1217Thr) c.3452A>C (p.Lys1151Thr) c.2741A>C (p.Lys914Thr) | |
X | g.153954749T= | CA2466540262 | HCFC1 | c.3650A= (p.Lys1217=) c.3452A= (p.Lys1151=) c.2741A= (p.Lys914=) | |
X | g.153954750T>A | CA415120001 | HCFC1 | c.3649A>T (p.Lys1217Ter) c.3451A>T (p.Lys1151Ter) c.2740A>T (p.Lys914Ter) | |
X | g.153954750T>C | CA415120003 | HCFC1 | c.3649A>G (p.Lys1217Glu) c.3451A>G (p.Lys1151Glu) c.2740A>G (p.Lys914Glu) | |
X | g.153954750T>G | CA415120005 | HCFC1 | c.3649A>C (p.Lys1217Gln) c.3451A>C (p.Lys1151Gln) c.2740A>C (p.Lys914Gln) | |
X | g.153954751G>A | CA519702609 | HCFC1 | c.3648C>T (p.Ser1216=) c.3450C>T (p.Ser1150=) c.2739C>T (p.Ser913=) | |
X | g.153954751G>C | CA415120010 | HCFC1 | c.3648C>G (p.Ser1216Arg) c.3450C>G (p.Ser1150Arg) c.2739C>G (p.Ser913Arg) | gnomAD v4 |
X | g.153954751G>T | CA415120008 | HCFC1 | c.3648C>A (p.Ser1216Arg) c.3450C>A (p.Ser1150Arg) c.2739C>A (p.Ser913Arg) | |
X | g.153954752C>A | CA415120013 | HCFC1 | c.3647G>T (p.Ser1216Ile) c.3449G>T (p.Ser1150Ile) c.2738G>T (p.Ser913Ile) | |
X | g.153954752C>G | CA415120021 | HCFC1 | c.3647G>C (p.Ser1216Thr) c.3449G>C (p.Ser1150Thr) c.2738G>C (p.Ser913Thr) | |
X | g.153954752C>T | CA415120026 | HCFC1 | c.3647G>A (p.Ser1216Asn) c.3449G>A (p.Ser1150Asn) c.2738G>A (p.Ser913Asn) | gnomAD v4 |
X | g.153954753T>A | CA415120027 | HCFC1 | c.3646A>T (p.Ser1216Cys) c.3448A>T (p.Ser1150Cys) c.2737A>T (p.Ser913Cys) | ClinVar dbSNP |
X | g.153954753T>C | CA10557160 | HCFC1 | c.3646A>G (p.Ser1216Gly) c.3448A>G (p.Ser1150Gly) c.2737A>G (p.Ser913Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153954753T>G | CA415120029 | HCFC1 | c.3646A>C (p.Ser1216Arg) c.3448A>C (p.Ser1150Arg) c.2737A>C (p.Ser913Arg) | |
X | g.153954753T= | CA2466540263 | HCFC1 | c.3646A= (p.Ser1216=) c.3448A= (p.Ser1150=) c.2737A= (p.Ser913=) | |
X | g.153954754G>A | CA519702615 | HCFC1 | c.3645C>T (p.Ser1215=) c.3447C>T (p.Ser1149=) c.2736C>T (p.Ser912=) | gnomAD v4 |
X | g.153954754G>C | CA415120032 | HCFC1 | c.3645C>G (p.Ser1215Arg) c.3447C>G (p.Ser1149Arg) c.2736C>G (p.Ser912Arg) | |
X | g.153954754G>T | CA415120034 | HCFC1 | c.3645C>A (p.Ser1215Arg) c.3447C>A (p.Ser1149Arg) c.2736C>A (p.Ser912Arg) | gnomAD v4 |
X | g.153954755C>A | CA415120036 | HCFC1 | c.3644G>T (p.Ser1215Ile) c.3446G>T (p.Ser1149Ile) c.2735G>T (p.Ser912Ile) | |
X | g.153954755C= | CA2466540264 | HCFC1 | c.3644G= (p.Ser1215=) c.3446G= (p.Ser1149=) c.2735G= (p.Ser912=) | |
X | g.153954755C>G | CA415120038 | HCFC1 | c.3644G>C (p.Ser1215Thr) c.3446G>C (p.Ser1149Thr) c.2735G>C (p.Ser912Thr) | |
X | g.153954755C>T | CA415120042 | HCFC1 | c.3644G>A (p.Ser1215Asn) c.3446G>A (p.Ser1149Asn) c.2735G>A (p.Ser912Asn) | dbSNP gnomAD v2 gnomAD v4 |
X | g.153954756T>A | CA415120047 | HCFC1 | c.3643A>T (p.Ser1215Cys) c.3445A>T (p.Ser1149Cys) c.2734A>T (p.Ser912Cys) | |
X | g.153954756T>C | CA415120050 | HCFC1 | c.3643A>G (p.Ser1215Gly) c.3445A>G (p.Ser1149Gly) c.2734A>G (p.Ser912Gly) | |
X | g.153954756T>G | CA415120045 | HCFC1 | c.3643A>C (p.Ser1215Arg) c.3445A>C (p.Ser1149Arg) c.2734A>C (p.Ser912Arg) | |
X | g.153954757del | CA2559574793 | HCFC1 | c.3642del (p.Ser1215AlafsTer6) c.3444del (p.Ser1149AlafsTer6) c.2733del (p.Ser912AlafsTer6) | |
X | g.153954757C>A | CA519702619 | HCFC1 | c.3642G>T (p.Leu1214=) c.3444G>T (p.Leu1148=) c.2733G>T (p.Leu911=) | |
X | g.153954757C>G | CA519702621 | HCFC1 | c.3642G>C (p.Leu1214=) c.3444G>C (p.Leu1148=) c.2733G>C (p.Leu911=) | |
X | g.153954757C>T | CA519702618 | HCFC1 | c.3642G>A (p.Leu1214=) c.3444G>A (p.Leu1148=) c.2733G>A (p.Leu911=) | gnomAD v4 |
X | g.153954758A>C | CA415120058 | HCFC1 | c.3641T>G (p.Leu1214Arg) c.3443T>G (p.Leu1148Arg) c.2732T>G (p.Leu911Arg) | |
X | g.153954758A>G | CA415120052 | HCFC1 | c.3641T>C (p.Leu1214Pro) c.3443T>C (p.Leu1148Pro) c.2732T>C (p.Leu911Pro) | |
X | g.153954758A>T | CA415120056 | HCFC1 | c.3641T>A (p.Leu1214Gln) c.3443T>A (p.Leu1148Gln) c.2732T>A (p.Leu911Gln) | |
X | g.153954759G>A | CA519702623 | HCFC1 | c.3640C>T (p.Leu1214=) c.3442C>T (p.Leu1148=) c.2731C>T (p.Leu911=) | gnomAD v4 |
X | g.153954759G>C | CA415120061 | HCFC1 | c.3640C>G (p.Leu1214Val) c.3442C>G (p.Leu1148Val) c.2731C>G (p.Leu911Val) | |
X | g.153954759G>T | CA415120063 | HCFC1 | c.3640C>A (p.Leu1214Met) c.3442C>A (p.Leu1148Met) c.2731C>A (p.Leu911Met) | gnomAD v4 |
X | g.153954760A= | CA2466540265 | HCFC1 | c.3639T= (p.Pro1213=) c.3441T= (p.Pro1147=) c.2730T= (p.Pro910=) | |
X | g.153954760A>C | CA519702625 | HCFC1 | c.3639T>G (p.Pro1213=) c.3441T>G (p.Pro1147=) c.2730T>G (p.Pro910=) | ClinVar dbSNP |
X | g.153954760A>G | CA519702627 | HCFC1 | c.3639T>C (p.Pro1213=) c.3441T>C (p.Pro1147=) c.2730T>C (p.Pro910=) | |
X | g.153954760A>T | CA519702626 | HCFC1 | c.3639T>A (p.Pro1213=) c.3441T>A (p.Pro1147=) c.2730T>A (p.Pro910=) | |
X | g.153954761G>A | CA415120071 | HCFC1 | c.3638C>T (p.Pro1213Leu) c.3440C>T (p.Pro1147Leu) c.2729C>T (p.Pro910Leu) | |
X | g.153954761G>C | CA415120078 | HCFC1 | c.3638C>G (p.Pro1213Arg) c.3440C>G (p.Pro1147Arg) c.2729C>G (p.Pro910Arg) | |
X | g.153954761G>T | CA415120080 | HCFC1 | c.3638C>A (p.Pro1213His) c.3440C>A (p.Pro1147His) c.2729C>A (p.Pro910His) | gnomAD v4 |
X | g.153954762G>A | CA415120082 | HCFC1 | c.3637C>T (p.Pro1213Ser) c.3439C>T (p.Pro1147Ser) c.2728C>T (p.Pro910Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.153954762G>C | CA415120086 | HCFC1 | c.3637C>G (p.Pro1213Ala) c.3439C>G (p.Pro1147Ala) c.2728C>G (p.Pro910Ala) | |
X | g.153954762G= | CA2466540266 | HCFC1 | c.3637C= (p.Pro1213=) c.3439C= (p.Pro1147=) c.2728C= (p.Pro910=) | |
X | g.153954762G>T | CA415120089 | HCFC1 | c.3637C>A (p.Pro1213Thr) c.3439C>A (p.Pro1147Thr) c.2728C>A (p.Pro910Thr) | gnomAD v4 |
X | g.153954763G>A | CA519702629 | HCFC1 | c.3636C>T (p.Ala1212=) c.3438C>T (p.Ala1146=) c.2727C>T (p.Ala909=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.153954763G>C | CA519702631 | HCFC1 | c.3636C>G (p.Ala1212=) c.3438C>G (p.Ala1146=) c.2727C>G (p.Ala909=) | gnomAD v4 |
X | g.153954763G= | CA2466540267 | HCFC1 | c.3636C= (p.Ala1212=) c.3438C= (p.Ala1146=) c.2727C= (p.Ala909=) | |
X | g.153954763G>T | CA519702633 | HCFC1 | c.3636C>A (p.Ala1212=) c.3438C>A (p.Ala1146=) c.2727C>A (p.Ala909=) | |
X | g.153954764G>A | CA415120100 | HCFC1 | c.3635C>T (p.Ala1212Val) c.3437C>T (p.Ala1146Val) c.2726C>T (p.Ala909Val) | dbSNP gnomAD v2 gnomAD v4 |
X | g.153954764G>C | CA415120096 | HCFC1 | c.3635C>G (p.Ala1212Gly) c.3437C>G (p.Ala1146Gly) c.2726C>G (p.Ala909Gly) | |
X | g.153954764G= | CA2466540268 | HCFC1 | c.3635C= (p.Ala1212=) c.3437C= (p.Ala1146=) c.2726C= (p.Ala909=) | |
X | g.153954764G>T | CA415120093 | HCFC1 | c.3635C>A (p.Ala1212Asp) c.3437C>A (p.Ala1146Asp) c.2726C>A (p.Ala909Asp) | gnomAD v4 |
X | g.153954765C>A | CA415120101 | HCFC1 | c.3634G>T (p.Ala1212Ser) c.3436G>T (p.Ala1146Ser) c.2725G>T (p.Ala909Ser) | |
X | g.153954765C>G | CA415120102 | HCFC1 | c.3634G>C (p.Ala1212Pro) c.3436G>C (p.Ala1146Pro) c.2725G>C (p.Ala909Pro) | |
X | g.153954765C>T | CA415120103 | HCFC1 | c.3634G>A (p.Ala1212Thr) c.3436G>A (p.Ala1146Thr) c.2725G>A (p.Ala909Thr) | gnomAD v4 |
X | g.153954766C>A | CA415120104 | HCFC1 | c.3633G>T (p.Leu1211Phe) c.3435G>T (p.Leu1145Phe) c.2724G>T (p.Leu908Phe) | gnomAD v4 |
X | g.153954766C>G | CA415120105 | HCFC1 | c.3633G>C (p.Leu1211Phe) c.3435G>C (p.Leu1145Phe) c.2724G>C (p.Leu908Phe) | |
X | g.153954766C>T | CA519702637 | HCFC1 | c.3633G>A (p.Leu1211=) c.3435G>A (p.Leu1145=) c.2724G>A (p.Leu908=) | gnomAD v4 |
X | g.153954767A>C | CA415122505 | HCFC1 | c.3632T>G (p.Leu1211Trp) c.3434T>G (p.Leu1145Trp) c.2723T>G (p.Leu908Trp) | |
X | g.153954767A>G | CA415122509 | HCFC1 | c.3632T>C (p.Leu1211Ser) c.3434T>C (p.Leu1145Ser) c.2723T>C (p.Leu908Ser) | |
X | g.153954767A>T | CA415122512 | HCFC1 | c.3632T>A (p.Leu1211Ter) c.3434T>A (p.Leu1145Ter) c.2723T>A (p.Leu908Ter) | |
X | g.153954768A>C | CA415122516 | HCFC1 | c.3631T>G (p.Leu1211Val) c.3433T>G (p.Leu1145Val) c.2722T>G (p.Leu908Val) | |
X | g.153954768A>G | CA519701943 | HCFC1 | c.3631T>C (p.Leu1211=) c.3433T>C (p.Leu1145=) c.2722T>C (p.Leu908=) | |
X | g.153954768A>T | CA415122520 | HCFC1 | c.3631T>A (p.Leu1211Met) c.3433T>A (p.Leu1145Met) c.2722T>A (p.Leu908Met) | |
X | g.153954769C>A | CA415122533 | HCFC1 | c.3630G>T (p.Gln1210His) c.3432G>T (p.Gln1144His) c.2721G>T (p.Gln907His) | dbSNP gnomAD v3 gnomAD v4 |
X | g.153954769C= | CA2466540269 | HCFC1 | c.3630G= (p.Gln1210=) c.3432G= (p.Gln1144=) c.2721G= (p.Gln907=) | |
X | g.153954769C>G | CA415122536 | HCFC1 | c.3630G>C (p.Gln1210His) c.3432G>C (p.Gln1144His) c.2721G>C (p.Gln907His) | gnomAD v4 |
X | g.153954769C>T | CA519701944 | HCFC1 | c.3630G>A (p.Gln1210=) c.3432G>A (p.Gln1144=) c.2721G>A (p.Gln907=) | gnomAD v4 |
X | g.153954770T>A | CA415122545 | HCFC1 | c.3629A>T (p.Gln1210Leu) c.3431A>T (p.Gln1144Leu) c.2720A>T (p.Gln907Leu) | |
X | g.153954770T>C | CA415122556 | HCFC1 | c.3629A>G (p.Gln1210Arg) c.3431A>G (p.Gln1144Arg) c.2720A>G (p.Gln907Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153954770T>G | CA415122543 | HCFC1 | c.3629A>C (p.Gln1210Pro) c.3431A>C (p.Gln1144Pro) c.2720A>C (p.Gln907Pro) | |
X | g.153954770T= | CA2466540270 | HCFC1 | c.3629A= (p.Gln1210=) c.3431A= (p.Gln1144=) c.2720A= (p.Gln907=) | |
X | g.153954771G>A | CA415122560 | HCFC1 | c.3628C>T (p.Gln1210Ter) c.3430C>T (p.Gln1144Ter) c.2719C>T (p.Gln907Ter) | gnomAD v4 |
X | g.153954771G>C | CA415122563 | HCFC1 | c.3628C>G (p.Gln1210Glu) c.3430C>G (p.Gln1144Glu) c.2719C>G (p.Gln907Glu) | |
X | g.153954771G>T | CA415122565 | HCFC1 | c.3628C>A (p.Gln1210Lys) c.3430C>A (p.Gln1144Lys) c.2719C>A (p.Gln907Lys) | gnomAD v4 |
X | g.153954772C>A | CA10557161 | HCFC1 | c.3627G>T (p.Val1209=) c.3429G>T (p.Val1143=) c.2718G>T (p.Val906=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153954772C= | CA2466540271 | HCFC1 | c.3627G= (p.Val1209=) c.3429G= (p.Val1143=) c.2718G= (p.Val906=) | |
X | g.153954772C>G | CA519701945 | HCFC1 | c.3627G>C (p.Val1209=) c.3429G>C (p.Val1143=) c.2718G>C (p.Val906=) | |
X | g.153954772C>T | CA519701946 | HCFC1 | c.3627G>A (p.Val1209=) c.3429G>A (p.Val1143=) c.2718G>A (p.Val906=) | gnomAD v4 |
X | g.153954773A>C | CA415122570 | HCFC1 | c.3626T>G (p.Val1209Gly) c.3428T>G (p.Val1143Gly) c.2717T>G (p.Val906Gly) | |
X | g.153954773A>G | CA415122573 | HCFC1 | c.3626T>C (p.Val1209Ala) c.3428T>C (p.Val1143Ala) c.2717T>C (p.Val906Ala) | |
X | g.153954773A>T | CA415122586 | HCFC1 | c.3626T>A (p.Val1209Glu) c.3428T>A (p.Val1143Glu) c.2717T>A (p.Val906Glu) | |
X | g.153954774C>A | CA415122589 | HCFC1 | c.3625G>T (p.Val1209Leu) c.3427G>T (p.Val1143Leu) c.2716G>T (p.Val906Leu) | gnomAD v4 |
X | g.153954774C>G | CA415122590 | HCFC1 | c.3625G>C (p.Val1209Leu) c.3427G>C (p.Val1143Leu) c.2716G>C (p.Val906Leu) | |
X | g.153954774C>T | CA415122601 | HCFC1 | c.3625G>A (p.Val1209Met) c.3427G>A (p.Val1143Met) c.2716G>A (p.Val906Met) | |
X | g.153954775A>C | CA415122605 | HCFC1 | c.3624T>G (p.Phe1208Leu) c.3426T>G (p.Phe1142Leu) c.2715T>G (p.Phe905Leu) | |
X | g.153954775A>G | CA519701947 | HCFC1 | c.3624T>C (p.Phe1208=) c.3426T>C (p.Phe1142=) c.2715T>C (p.Phe905=) | gnomAD v4 |
X | g.153954775A>T | CA415122607 | HCFC1 | c.3624T>A (p.Phe1208Leu) c.3426T>A (p.Phe1142Leu) c.2715T>A (p.Phe905Leu) | |
X | g.153954776A>C | CA415122617 | HCFC1 | c.3623T>G (p.Phe1208Cys) c.3425T>G (p.Phe1142Cys) c.2714T>G (p.Phe905Cys) | |
X | g.153954776A>G | CA415122610 | HCFC1 | c.3623T>C (p.Phe1208Ser) c.3425T>C (p.Phe1142Ser) c.2714T>C (p.Phe905Ser) | |
X | g.153954776A>T | CA415122613 | HCFC1 | c.3623T>A (p.Phe1208Tyr) c.3425T>A (p.Phe1142Tyr) c.2714T>A (p.Phe905Tyr) | |
X | g.153954777A>C | CA415122622 | HCFC1 | c.3622T>G (p.Phe1208Val) c.3424T>G (p.Phe1142Val) c.2713T>G (p.Phe905Val) | |
X | g.153954777A>G | CA415122625 | HCFC1 | c.3622T>C (p.Phe1208Leu) c.3424T>C (p.Phe1142Leu) c.2713T>C (p.Phe905Leu) | |
X | g.153954777A>T | CA415122627 | HCFC1 | c.3622T>A (p.Phe1208Ile) c.3424T>A (p.Phe1142Ile) c.2713T>A (p.Phe905Ile) | |
X | g.153954778A= | CA2466540272 | HCFC1 | c.3621T= (p.Ala1207=) c.3423T= (p.Ala1141=) c.2712T= (p.Ala904=) | |
X | g.153954778A>C | CA519701948 | HCFC1 | c.3621T>G (p.Ala1207=) c.3423T>G (p.Ala1141=) c.2712T>G (p.Ala904=) | |
X | g.153954778A>G | CA519701949 | HCFC1 | c.3621T>C (p.Ala1207=) c.3423T>C (p.Ala1141=) c.2712T>C (p.Ala904=) | |
X | g.153954778A>T | CA519701950 | HCFC1 | c.3621T>A (p.Ala1207=) c.3423T>A (p.Ala1141=) c.2712T>A (p.Ala904=) | dbSNP |
X | g.153954779G>A | CA415122629 | HCFC1 | c.3620C>T (p.Ala1207Val) c.3422C>T (p.Ala1141Val) c.2711C>T (p.Ala904Val) | dbSNP gnomAD v3 gnomAD v4 |
X | g.153954779G>C | CA415122632 | HCFC1 | c.3620C>G (p.Ala1207Gly) c.3422C>G (p.Ala1141Gly) c.2711C>G (p.Ala904Gly) | |
X | g.153954779G= | CA2466540273 | HCFC1 | c.3620C= (p.Ala1207=) c.3422C= (p.Ala1141=) c.2711C= (p.Ala904=) | |
X | g.153954779G>T | CA415122635 | HCFC1 | c.3620C>A (p.Ala1207Asp) c.3422C>A (p.Ala1141Asp) c.2711C>A (p.Ala904Asp) | gnomAD v4 |
X | g.153954780C>A | CA415122637 | HCFC1 | c.3619G>T (p.Ala1207Ser) c.3421G>T (p.Ala1141Ser) c.2710G>T (p.Ala904Ser) | gnomAD v4 |
X | g.153954780C= | CA2466540274 | HCFC1 | c.3619G= (p.Ala1207=) c.3421G= (p.Ala1141=) c.2710G= (p.Ala904=) | |
X | g.153954780C>G | CA415122638 | HCFC1 | c.3619G>C (p.Ala1207Pro) c.3421G>C (p.Ala1141Pro) c.2710G>C (p.Ala904Pro) | |
X | g.153954780C>T | CA415122640 | HCFC1 | c.3619G>A (p.Ala1207Thr) c.3421G>A (p.Ala1141Thr) c.2710G>A (p.Ala904Thr) | dbSNP gnomAD v3 gnomAD v4 |
X | g.153954781A= | CA2466540275 | HCFC1 | c.3618T= (p.Pro1206=) c.3420T= (p.Pro1140=) c.2709T= (p.Pro903=) | |
X | g.153954781A>C | CA519701951 | HCFC1 | c.3618T>G (p.Pro1206=) c.3420T>G (p.Pro1140=) c.2709T>G (p.Pro903=) | |
X | g.153954781A>G | CA519701953 | HCFC1 | c.3618T>C (p.Pro1206=) c.3420T>C (p.Pro1140=) c.2709T>C (p.Pro903=) | |
X | g.153954781A>T | CA519701952 | HCFC1 | c.3618T>A (p.Pro1206=) c.3420T>A (p.Pro1140=) c.2709T>A (p.Pro903=) | dbSNP |
X | g.153954782G>A | CA415122645 | HCFC1 | c.3617C>T (p.Pro1206Leu) c.3419C>T (p.Pro1140Leu) c.2708C>T (p.Pro903Leu) | |
X | g.153954782G>C | CA415122647 | HCFC1 | c.3617C>G (p.Pro1206Arg) c.3419C>G (p.Pro1140Arg) c.2708C>G (p.Pro903Arg) | |
X | g.153954782G>T | CA415122649 | HCFC1 | c.3617C>A (p.Pro1206His) c.3419C>A (p.Pro1140His) c.2708C>A (p.Pro903His) | gnomAD v4 |
X | g.153954783G>A | CA415122654 | HCFC1 | c.3616C>T (p.Pro1206Ser) c.3418C>T (p.Pro1140Ser) c.2707C>T (p.Pro903Ser) | |
X | g.153954783G>C | CA415122659 | HCFC1 | c.3616C>G (p.Pro1206Ala) c.3418C>G (p.Pro1140Ala) c.2707C>G (p.Pro903Ala) | |
X | g.153954783G= | CA2466540276 | HCFC1 | c.3616C= (p.Pro1206=) c.3418C= (p.Pro1140=) c.2707C= (p.Pro903=) | |
X | g.153954783G>T | CA415122658 | HCFC1 | c.3616C>A (p.Pro1206Thr) c.3418C>A (p.Pro1140Thr) c.2707C>A (p.Pro903Thr) | dbSNP gnomAD v2 gnomAD v4 |
X | g.153954784G>A | CA10557162 | HCFC1 | c.3615C>T (p.Ser1205=) c.3417C>T (p.Ser1139=) c.2706C>T (p.Ser902=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153954784G>C | CA415122666 | HCFC1 | c.3615C>G (p.Ser1205Arg) c.3417C>G (p.Ser1139Arg) c.2706C>G (p.Ser902Arg) | |
X | g.153954784G= | CA2466540277 | HCFC1 | c.3615C= (p.Ser1205=) c.3417C= (p.Ser1139=) c.2706C= (p.Ser902=) | |
X | g.153954784G>T | CA415122664 | HCFC1 | c.3615C>A (p.Ser1205Arg) c.3417C>A (p.Ser1139Arg) c.2706C>A (p.Ser902Arg) | gnomAD v4 |
X | g.153954785C>A | CA415122670 | HCFC1 | c.3614G>T (p.Ser1205Ile) c.3416G>T (p.Ser1139Ile) c.2705G>T (p.Ser902Ile) | |
X | g.153954785C>G | CA415122677 | HCFC1 | c.3614G>C (p.Ser1205Thr) c.3416G>C (p.Ser1139Thr) c.2705G>C (p.Ser902Thr) | |
X | g.153954785C>T | CA415122672 | HCFC1 | c.3614G>A (p.Ser1205Asn) c.3416G>A (p.Ser1139Asn) c.2705G>A (p.Ser902Asn) | |
X | g.153954786T>A | CA415122681 | HCFC1 | c.3613A>T (p.Ser1205Cys) c.3415A>T (p.Ser1139Cys) c.2704A>T (p.Ser902Cys) | |
X | g.153954786T>C | CA415122690 | HCFC1 | c.3613A>G (p.Ser1205Gly) c.3415A>G (p.Ser1139Gly) c.2704A>G (p.Ser902Gly) | |
X | g.153954786T>G | CA415122684 | HCFC1 | c.3613A>C (p.Ser1205Arg) c.3415A>C (p.Ser1139Arg) c.2704A>C (p.Ser902Arg) |