Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
X | g.153954787G>A | CA519701954 | HCFC1 | c.3612C>T (p.Arg1204=) c.3414C>T (p.Arg1138=) c.2703C>T (p.Arg901=) | dbSNP gnomAD v4 |
X | g.153954787G>C | CA519701955 | HCFC1 | c.3612C>G (p.Arg1204=) c.3414C>G (p.Arg1138=) c.2703C>G (p.Arg901=) | |
X | g.153954787G= | CA2466540278 | HCFC1 | c.3612C= (p.Arg1204=) c.3414C= (p.Arg1138=) c.2703C= (p.Arg901=) | |
X | g.153954787G>T | CA519701956 | HCFC1 | c.3612C>A (p.Arg1204=) c.3414C>A (p.Arg1138=) c.2703C>A (p.Arg901=) | gnomAD v4 |
X | g.153954788C>A | CA415122693 | HCFC1 | c.3611G>T (p.Arg1204Leu) c.3413G>T (p.Arg1138Leu) c.2702G>T (p.Arg901Leu) | gnomAD v4 |
X | g.153954788C= | CA2466540279 | HCFC1 | c.3611G= (p.Arg1204=) c.3413G= (p.Arg1138=) c.2702G= (p.Arg901=) | |
X | g.153954788C>G | CA415122703 | HCFC1 | c.3611G>C (p.Arg1204Pro) c.3413G>C (p.Arg1138Pro) c.2702G>C (p.Arg901Pro) | |
X | g.153954788C>T | CA10557163 | HCFC1 | c.3611G>A (p.Arg1204His) c.3413G>A (p.Arg1138His) c.2702G>A (p.Arg901His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153954789G>A | CA10557164 | HCFC1 | c.3610C>T (p.Arg1204Cys) c.3412C>T (p.Arg1138Cys) c.2701C>T (p.Arg901Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153954789G>C | CA415122715 | HCFC1 | c.3610C>G (p.Arg1204Gly) c.3412C>G (p.Arg1138Gly) c.2701C>G (p.Arg901Gly) | |
X | g.153954789G= | CA2466540280 | HCFC1 | c.3610C= (p.Arg1204=) c.3412C= (p.Arg1138=) c.2701C= (p.Arg901=) | |
X | g.153954789G>T | CA415122720 | HCFC1 | c.3610C>A (p.Arg1204Ser) c.3412C>A (p.Arg1138Ser) c.2701C>A (p.Arg901Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.153954790G>A | CA519701959 | HCFC1 | c.3609C>T (p.Gly1203=) c.3411C>T (p.Gly1137=) c.2700C>T (p.Gly900=) | gnomAD v4 |
X | g.153954790G>C | CA519701958 | HCFC1 | c.3609C>G (p.Gly1203=) c.3411C>G (p.Gly1137=) c.2700C>G (p.Gly900=) | |
X | g.153954790G>T | CA519701957 | HCFC1 | c.3609C>A (p.Gly1203=) c.3411C>A (p.Gly1137=) c.2700C>A (p.Gly900=) | |
X | g.153954790_153954791insGC | CA2573105952 | HCFC1 | c.3608_3609insGC (p.Arg1204ProfsTer12) c.3410_3411insGC (p.Arg1138ProfsTer12) c.2699_2700insGC (p.Arg901ProfsTer12) | |
X | g.153954791C>A | CA415122722 | HCFC1 | c.3608G>T (p.Gly1203Val) c.3410G>T (p.Gly1137Val) c.2699G>T (p.Gly900Val) | |
X | g.153954791C= | CA2466540281 | HCFC1 | c.3608G= (p.Gly1203=) c.3410G= (p.Gly1137=) c.2699G= (p.Gly900=) | |
X | g.153954791C>G | CA415122725 | HCFC1 | c.3608G>C (p.Gly1203Ala) c.3410G>C (p.Gly1137Ala) c.2699G>C (p.Gly900Ala) | |
X | g.153954791C>T | CA415122729 | HCFC1 | c.3608G>A (p.Gly1203Asp) c.3410G>A (p.Gly1137Asp) c.2699G>A (p.Gly900Asp) | dbSNP gnomAD v2 gnomAD v4 |
X | g.153954795del | CA2579735263 | HCFC1 | c.3608del (p.Gly1203AlafsTer12) c.3410del (p.Gly1137AlafsTer12) c.2699del (p.Gly900AlafsTer12) | gnomAD v4 |
X | g.153954792C>A | CA415122732 | HCFC1 | c.3607G>T (p.Gly1203Cys) c.3409G>T (p.Gly1137Cys) c.2698G>T (p.Gly900Cys) | gnomAD v4 |
X | g.153954792C>G | CA415122733 | HCFC1 | c.3607G>C (p.Gly1203Arg) c.3409G>C (p.Gly1137Arg) c.2698G>C (p.Gly900Arg) | |
X | g.153954792C>T | CA415122735 | HCFC1 | c.3607G>A (p.Gly1203Ser) c.3409G>A (p.Gly1137Ser) c.2698G>A (p.Gly900Ser) | gnomAD v4 |
X | g.153954793C>A | CA519701960 | HCFC1 | c.3606G>T (p.Gly1202=) c.3408G>T (p.Gly1136=) c.2697G>T (p.Gly899=) | |
X | g.153954793C= | CA2466540282 | HCFC1 | c.3606G= (p.Gly1202=) c.3408G= (p.Gly1136=) c.2697G= (p.Gly899=) | |
X | g.153954793C>G | CA519701961 | HCFC1 | c.3606G>C (p.Gly1202=) c.3408G>C (p.Gly1136=) c.2697G>C (p.Gly899=) | |
X | g.153954793C>T | CA519701962 | HCFC1 | c.3606G>A (p.Gly1202=) c.3408G>A (p.Gly1136=) c.2697G>A (p.Gly899=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.153954794C>A | CA415122737 | HCFC1 | c.3605G>T (p.Gly1202Val) c.3407G>T (p.Gly1136Val) c.2696G>T (p.Gly899Val) | |
X | g.153954794C>G | CA415122738 | HCFC1 | c.3605G>C (p.Gly1202Ala) c.3407G>C (p.Gly1136Ala) c.2696G>C (p.Gly899Ala) | |
X | g.153954794C>T | CA415122740 | HCFC1 | c.3605G>A (p.Gly1202Glu) c.3407G>A (p.Gly1136Glu) c.2696G>A (p.Gly899Glu) | |
X | g.153954795C>A | CA415122751 | HCFC1 | c.3604G>T (p.Gly1202Trp) c.3406G>T (p.Gly1136Trp) c.2695G>T (p.Gly899Trp) | gnomAD v4 |
X | g.153954795C= | CA2466540283 | HCFC1 | c.3604G= (p.Gly1202=) c.3406G= (p.Gly1136=) c.2695G= (p.Gly899=) | |
X | g.153954795C>G | CA415122750 | HCFC1 | c.3604G>C (p.Gly1202Arg) c.3406G>C (p.Gly1136Arg) c.2695G>C (p.Gly899Arg) | gnomAD v4 |
X | g.153954795C>T | CA415122743 | HCFC1 | c.3604G>A (p.Gly1202Arg) c.3406G>A (p.Gly1136Arg) c.2695G>A (p.Gly899Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.153954796G>A | CA10557166 | HCFC1 | c.3603C>T (p.Pro1201=) c.3405C>T (p.Pro1135=) c.2694C>T (p.Pro898=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153954796G>C | CA519701963 | HCFC1 | c.3603C>G (p.Pro1201=) c.3405C>G (p.Pro1135=) c.2694C>G (p.Pro898=) | dbSNP |
X | g.153954796G= | CA2466540284 | HCFC1 | c.3603C= (p.Pro1201=) c.3405C= (p.Pro1135=) c.2694C= (p.Pro898=) | |
X | g.153954796G>T | CA10557165 | HCFC1 | c.3603C>A (p.Pro1201=) c.3405C>A (p.Pro1135=) c.2694C>A (p.Pro898=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153954797G>A | CA415122757 | HCFC1 | c.3602C>T (p.Pro1201Leu) c.3404C>T (p.Pro1135Leu) c.2693C>T (p.Pro898Leu) | gnomAD v4 |
X | g.153954797G>C | CA415122758 | HCFC1 | c.3602C>G (p.Pro1201Arg) c.3404C>G (p.Pro1135Arg) c.2693C>G (p.Pro898Arg) | ClinVar gnomAD v4 |
X | g.153954797G>T | CA415122760 | HCFC1 | c.3602C>A (p.Pro1201His) c.3404C>A (p.Pro1135His) c.2693C>A (p.Pro898His) | gnomAD v4 |
X | g.153954798G>A | CA415122762 | HCFC1 | c.3601C>T (p.Pro1201Ser) c.3403C>T (p.Pro1135Ser) c.2692C>T (p.Pro898Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.153954798G>C | CA415122763 | HCFC1 | c.3601C>G (p.Pro1201Ala) c.3403C>G (p.Pro1135Ala) c.2692C>G (p.Pro898Ala) | |
X | g.153954798G= | CA2466540285 | HCFC1 | c.3601C= (p.Pro1201=) c.3403C= (p.Pro1135=) c.2692C= (p.Pro898=) | |
X | g.153954798G>T | CA415122766 | HCFC1 | c.3601C>A (p.Pro1201Thr) c.3403C>A (p.Pro1135Thr) c.2692C>A (p.Pro898Thr) | gnomAD v4 |
X | g.153954799C>A | CA415122768 | HCFC1 | c.3600G>T (p.Glu1200Asp) c.3402G>T (p.Glu1134Asp) c.2691G>T (p.Glu897Asp) | gnomAD v4 |
X | g.153954799C>G | CA415122771 | HCFC1 | c.3600G>C (p.Glu1200Asp) c.3402G>C (p.Glu1134Asp) c.2691G>C (p.Glu897Asp) | |
X | g.153954799C>T | CA519701964 | HCFC1 | c.3600G>A (p.Glu1200=) c.3402G>A (p.Glu1134=) c.2691G>A (p.Glu897=) | gnomAD v4 |
X | g.153954800T>A | CA415122774 | HCFC1 | c.3599A>T (p.Glu1200Val) c.3401A>T (p.Glu1134Val) c.2690A>T (p.Glu897Val) | |
X | g.153954800T>C | CA415122776 | HCFC1 | c.3599A>G (p.Glu1200Gly) c.3401A>G (p.Glu1134Gly) c.2690A>G (p.Glu897Gly) | |
X | g.153954800T>G | CA415122779 | HCFC1 | c.3599A>C (p.Glu1200Ala) c.3401A>C (p.Glu1134Ala) c.2690A>C (p.Glu897Ala) | |
X | g.153954801C>A | CA415122789 | HCFC1 | c.3598G>T (p.Glu1200Ter) c.3400G>T (p.Glu1134Ter) c.2689G>T (p.Glu897Ter) | gnomAD v4 |
X | g.153954801C>G | CA415122791 | HCFC1 | c.3598G>C (p.Glu1200Gln) c.3400G>C (p.Glu1134Gln) c.2689G>C (p.Glu897Gln) | |
X | g.153954801C>T | CA415122782 | HCFC1 | c.3598G>A (p.Glu1200Lys) c.3400G>A (p.Glu1134Lys) c.2689G>A (p.Glu897Lys) | |
X | g.153954803dup | CA2580611108 | HCFC1 | c.3598dup (p.Glu1200GlyfsTer27) c.3400dup (p.Glu1134GlyfsTer27) c.2689dup (p.Glu897GlyfsTer27) | |
X | g.153954802C>A | CA519701967 | HCFC1 | c.3597G>T (p.Arg1199=) c.3399G>T (p.Arg1133=) c.2688G>T (p.Arg896=) | |
X | g.153954802C>G | CA519701968 | HCFC1 | c.3597G>C (p.Arg1199=) c.3399G>C (p.Arg1133=) c.2688G>C (p.Arg896=) | |
X | g.153954802C>T | CA519701970 | HCFC1 | c.3597G>A (p.Arg1199=) c.3399G>A (p.Arg1133=) c.2688G>A (p.Arg896=) | gnomAD v4 |
X | g.153954803C>A | CA415122794 | HCFC1 | c.3596G>T (p.Arg1199Leu) c.3398G>T (p.Arg1133Leu) c.2687G>T (p.Arg896Leu) | gnomAD v4 |
X | g.153954803C= | CA2466540286 | HCFC1 | c.3596G= (p.Arg1199=) c.3398G= (p.Arg1133=) c.2687G= (p.Arg896=) | |
X | g.153954803C>G | CA415122796 | HCFC1 | c.3596G>C (p.Arg1199Pro) c.3398G>C (p.Arg1133Pro) c.2687G>C (p.Arg896Pro) | gnomAD v4 |
X | g.153954803C>T | CA415122800 | HCFC1 | c.3596G>A (p.Arg1199Gln) c.3398G>A (p.Arg1133Gln) c.2687G>A (p.Arg896Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.153954804G>A | CA415122802 | HCFC1 | c.3595C>T (p.Arg1199Trp) c.3397C>T (p.Arg1133Trp) c.2686C>T (p.Arg896Trp) | dbSNP gnomAD v4 |
X | g.153954804G>C | CA415122804 | HCFC1 | c.3595C>G (p.Arg1199Gly) c.3397C>G (p.Arg1133Gly) c.2686C>G (p.Arg896Gly) | |
X | g.153954804G= | CA2466540287 | HCFC1 | c.3595C= (p.Arg1199=) c.3397C= (p.Arg1133=) c.2686C= (p.Arg896=) | |
X | g.153954804G>T | CA519701971 | HCFC1 | c.3595C>A (p.Arg1199=) c.3397C>A (p.Arg1133=) c.2686C>A (p.Arg896=) | gnomAD v4 |
X | g.153954805T>A | CA519701972 | HCFC1 | c.3594A>T (p.Ala1198=) c.3396A>T (p.Ala1132=) c.2685A>T (p.Ala895=) | |
X | g.153954805T>C | CA519701973 | HCFC1 | c.3594A>G (p.Ala1198=) c.3396A>G (p.Ala1132=) c.2685A>G (p.Ala895=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.153954805T>G | CA519701974 | HCFC1 | c.3594A>C (p.Ala1198=) c.3396A>C (p.Ala1132=) c.2685A>C (p.Ala895=) | |
X | g.153954805T= | CA2466540288 | HCFC1 | c.3594A= (p.Ala1198=) c.3396A= (p.Ala1132=) c.2685A= (p.Ala895=) | |
X | g.153954806G>A | CA415122806 | HCFC1 | c.3593C>T (p.Ala1198Val) c.3395C>T (p.Ala1132Val) c.2684C>T (p.Ala895Val) | |
X | g.153954806G>C | CA415122807 | HCFC1 | c.3593C>G (p.Ala1198Gly) c.3395C>G (p.Ala1132Gly) c.2684C>G (p.Ala895Gly) | |
X | g.153954806G>T | CA415122810 | HCFC1 | c.3593C>A (p.Ala1198Glu) c.3395C>A (p.Ala1132Glu) c.2684C>A (p.Ala895Glu) | gnomAD v4 |
X | g.153954807C>A | CA415122813 | HCFC1 | c.3592G>T (p.Ala1198Ser) c.3394G>T (p.Ala1132Ser) c.2683G>T (p.Ala895Ser) | gnomAD v4 |
X | g.153954807C>G | CA415122816 | HCFC1 | c.3592G>C (p.Ala1198Pro) c.3394G>C (p.Ala1132Pro) c.2683G>C (p.Ala895Pro) | |
X | g.153954807C>T | CA415122819 | HCFC1 | c.3592G>A (p.Ala1198Thr) c.3394G>A (p.Ala1132Thr) c.2683G>A (p.Ala895Thr) | gnomAD v4 |
X | g.153954808del | CA2579735264 | HCFC1 | c.3592del (p.Ala1198HisfsTer17) c.3394del (p.Ala1132HisfsTer17) c.2683del (p.Ala895HisfsTer17) | |
X | g.153954808C>A | CA415122831 | HCFC1 | c.3591G>T (p.Met1197Ile) c.3393G>T (p.Met1131Ile) c.2682G>T (p.Met894Ile) | gnomAD v4 |
X | g.153954808C>G | CA415122829 | HCFC1 | c.3591G>C (p.Met1197Ile) c.3393G>C (p.Met1131Ile) c.2682G>C (p.Met894Ile) | |
X | g.153954808C>T | CA415122824 | HCFC1 | c.3591G>A (p.Met1197Ile) c.3393G>A (p.Met1131Ile) c.2682G>A (p.Met894Ile) | |
X | g.153954809A>C | CA415122840 | HCFC1 | c.3590T>G (p.Met1197Arg) c.3392T>G (p.Met1131Arg) c.2681T>G (p.Met894Arg) | |
X | g.153954809A>G | CA415122843 | HCFC1 | c.3590T>C (p.Met1197Thr) c.3392T>C (p.Met1131Thr) c.2681T>C (p.Met894Thr) | gnomAD v4 |
X | g.153954809A>T | CA415122848 | HCFC1 | c.3590T>A (p.Met1197Lys) c.3392T>A (p.Met1131Lys) c.2681T>A (p.Met894Lys) | |
X | g.153954810T>A | CA415122851 | HCFC1 | c.3589A>T (p.Met1197Leu) c.3391A>T (p.Met1131Leu) c.2680A>T (p.Met894Leu) | |
X | g.153954810T>C | CA415122859 | HCFC1 | c.3589A>G (p.Met1197Val) c.3391A>G (p.Met1131Val) c.2680A>G (p.Met894Val) | gnomAD v4 |
X | g.153954810T>G | CA415122864 | HCFC1 | c.3589A>C (p.Met1197Leu) c.3391A>C (p.Met1131Leu) c.2680A>C (p.Met894Leu) | |
X | g.153954811G>A | CA519701977 | HCFC1 | c.3588C>T (p.Ser1196=) c.3390C>T (p.Ser1130=) c.2679C>T (p.Ser893=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.153954811G>C | CA415122867 | HCFC1 | c.3588C>G (p.Ser1196Arg) c.3390C>G (p.Ser1130Arg) c.2679C>G (p.Ser893Arg) | |
X | g.153954811G= | CA2466540289 | HCFC1 | c.3588C= (p.Ser1196=) c.3390C= (p.Ser1130=) c.2679C= (p.Ser893=) | |
X | g.153954811G>T | CA415122869 | HCFC1 | c.3588C>A (p.Ser1196Arg) c.3390C>A (p.Ser1130Arg) c.2679C>A (p.Ser893Arg) | gnomAD v4 |
X | g.153954812C>A | CA415122874 | HCFC1 | c.3587G>T (p.Ser1196Ile) c.3389G>T (p.Ser1130Ile) c.2678G>T (p.Ser893Ile) | gnomAD v4 |
X | g.153954812C>G | CA415122877 | HCFC1 | c.3587G>C (p.Ser1196Thr) c.3389G>C (p.Ser1130Thr) c.2678G>C (p.Ser893Thr) | |
X | g.153954812C>T | CA415122881 | HCFC1 | c.3587G>A (p.Ser1196Asn) c.3389G>A (p.Ser1130Asn) c.2678G>A (p.Ser893Asn) | gnomAD v4 COSMIC COSMIC |
X | g.153954813T>A | CA415122883 | HCFC1 | c.3586A>T (p.Ser1196Cys) c.3388A>T (p.Ser1130Cys) c.2677A>T (p.Ser893Cys) | gnomAD v4 |
X | g.153954813T>C | CA415122891 | HCFC1 | c.3586A>G (p.Ser1196Gly) c.3388A>G (p.Ser1130Gly) c.2677A>G (p.Ser893Gly) | dbSNP |
X | g.153954813T>G | CA415122888 | HCFC1 | c.3586A>C (p.Ser1196Arg) c.3388A>C (p.Ser1130Arg) c.2677A>C (p.Ser893Arg) | |
X | g.153954813T= | CA2466540290 | HCFC1 | c.3586A= (p.Ser1196=) c.3388A= (p.Ser1130=) c.2677A= (p.Ser893=) | |
X | g.153954814C>A | CA519701978 | HCFC1 | c.3585G>T (p.Pro1195=) c.3387G>T (p.Pro1129=) c.2676G>T (p.Pro892=) | gnomAD v4 |
X | g.153954814C= | CA2466540291 | HCFC1 | c.3585G= (p.Pro1195=) c.3387G= (p.Pro1129=) c.2676G= (p.Pro892=) | |
X | g.153954814C>G | CA519701979 | HCFC1 | c.3585G>C (p.Pro1195=) c.3387G>C (p.Pro1129=) c.2676G>C (p.Pro892=) | gnomAD v4 |
X | g.153954814C>T | CA519701980 | HCFC1 | c.3585G>A (p.Pro1195=) c.3387G>A (p.Pro1129=) c.2676G>A (p.Pro892=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153954815G>A | CA415122894 | HCFC1 | c.3584C>T (p.Pro1195Leu) c.3386C>T (p.Pro1129Leu) c.2675C>T (p.Pro892Leu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
X | g.153954815G>C | CA415122901 | HCFC1 | c.3584C>G (p.Pro1195Arg) c.3386C>G (p.Pro1129Arg) c.2675C>G (p.Pro892Arg) | |
X | g.153954815G= | CA2466540292 | HCFC1 | c.3584C= (p.Pro1195=) c.3386C= (p.Pro1129=) c.2675C= (p.Pro892=) | |
X | g.153954815G>T | CA415122898 | HCFC1 | c.3584C>A (p.Pro1195Gln) c.3386C>A (p.Pro1129Gln) c.2675C>A (p.Pro892Gln) | |
X | g.153954816G>A | CA415122904 | HCFC1 | c.3583C>T (p.Pro1195Ser) c.3385C>T (p.Pro1129Ser) c.2674C>T (p.Pro892Ser) | gnomAD v4 |
X | g.153954816G>C | CA415122907 | HCFC1 | c.3583C>G (p.Pro1195Ala) c.3385C>G (p.Pro1129Ala) c.2674C>G (p.Pro892Ala) | |
X | g.153954816G>T | CA415122910 | HCFC1 | c.3583C>A (p.Pro1195Thr) c.3385C>A (p.Pro1129Thr) c.2674C>A (p.Pro892Thr) | |
X | g.153954817C>A | CA519701984 | HCFC1 | c.3582G>T (p.Gly1194=) c.3384G>T (p.Gly1128=) c.2673G>T (p.Gly891=) | gnomAD v4 |
X | g.153954817C>G | CA519701985 | HCFC1 | c.3582G>C (p.Gly1194=) c.3384G>C (p.Gly1128=) c.2673G>C (p.Gly891=) | gnomAD v4 |
X | g.153954817C>T | CA519701986 | HCFC1 | c.3582G>A (p.Gly1194=) c.3384G>A (p.Gly1128=) c.2673G>A (p.Gly891=) | gnomAD v4 |
X | g.153954818C>A | CA415122912 | HCFC1 | c.3581G>T (p.Gly1194Val) c.3383G>T (p.Gly1128Val) c.2672G>T (p.Gly891Val) | gnomAD v4 |
X | g.153954818C>G | CA415122916 | HCFC1 | c.3581G>C (p.Gly1194Ala) c.3383G>C (p.Gly1128Ala) c.2672G>C (p.Gly891Ala) | |
X | g.153954818C>T | CA415122917 | HCFC1 | c.3581G>A (p.Gly1194Glu) c.3383G>A (p.Gly1128Glu) c.2672G>A (p.Gly891Glu) | |
X | g.153954819C>A | CA415122918 | HCFC1 | c.3580G>T (p.Gly1194Trp) c.3382G>T (p.Gly1128Trp) c.2671G>T (p.Gly891Trp) | |
X | g.153954819C>G | CA415122920 | HCFC1 | c.3580G>C (p.Gly1194Arg) c.3382G>C (p.Gly1128Arg) c.2671G>C (p.Gly891Arg) | |
X | g.153954819C>T | CA415122921 | HCFC1 | c.3580G>A (p.Gly1194Arg) c.3382G>A (p.Gly1128Arg) c.2671G>A (p.Gly891Arg) | gnomAD v4 |
X | g.153954820A= | CA2466540293 | HCFC1 | c.3579T= (p.Leu1193=) c.3381T= (p.Leu1127=) c.2670T= (p.Leu890=) | |
X | g.153954820A>C | CA519701988 | HCFC1 | c.3579T>G (p.Leu1193=) c.3381T>G (p.Leu1127=) c.2670T>G (p.Leu890=) | |
X | g.153954820A>G | CA519701989 | HCFC1 | c.3579T>C (p.Leu1193=) c.3381T>C (p.Leu1127=) c.2670T>C (p.Leu890=) | ClinVar dbSNP |
X | g.153954820A>T | CA519701991 | HCFC1 | c.3579T>A (p.Leu1193=) c.3381T>A (p.Leu1127=) c.2670T>A (p.Leu890=) | |
X | g.153954821A>C | CA415122929 | HCFC1 | c.3578T>G (p.Leu1193Arg) c.3380T>G (p.Leu1127Arg) c.2669T>G (p.Leu890Arg) | |
X | g.153954821A>G | CA415122924 | HCFC1 | c.3578T>C (p.Leu1193Pro) c.3380T>C (p.Leu1127Pro) c.2669T>C (p.Leu890Pro) | gnomAD v4 |
X | g.153954821A>T | CA415122927 | HCFC1 | c.3578T>A (p.Leu1193His) c.3380T>A (p.Leu1127His) c.2669T>A (p.Leu890His) | |
X | g.153954822G>A | CA415122934 | HCFC1 | c.3577C>T (p.Leu1193Phe) c.3379C>T (p.Leu1127Phe) c.2668C>T (p.Leu890Phe) | COSMIC COSMIC |
X | g.153954822G>C | CA415122936 | HCFC1 | c.3577C>G (p.Leu1193Val) c.3379C>G (p.Leu1127Val) c.2668C>G (p.Leu890Val) | |
X | g.153954822G>T | CA415122938 | HCFC1 | c.3577C>A (p.Leu1193Ile) c.3379C>A (p.Leu1127Ile) c.2668C>A (p.Leu890Ile) | gnomAD v4 |
X | g.153954823G>A | CA519701995 | HCFC1 | c.3576C>T (p.Leu1192=) c.3378C>T (p.Leu1126=) c.2667C>T (p.Leu889=) | |
X | g.153954823G>C | CA519701997 | HCFC1 | c.3576C>G (p.Leu1192=) c.3378C>G (p.Leu1126=) c.2667C>G (p.Leu889=) | |
X | g.153954823G>T | CA519701998 | HCFC1 | c.3576C>A (p.Leu1192=) c.3378C>A (p.Leu1126=) c.2667C>A (p.Leu889=) | gnomAD v4 |
X | g.153954824A= | CA2466540294 | HCFC1 | c.3575T= (p.Leu1192=) c.3377T= (p.Leu1126=) c.2666T= (p.Leu889=) | |
X | g.153954824A>C | CA415122942 | HCFC1 | c.3575T>G (p.Leu1192Arg) c.3377T>G (p.Leu1126Arg) c.2666T>G (p.Leu889Arg) | |
X | g.153954824A>G | CA415122944 | HCFC1 | c.3575T>C (p.Leu1192Pro) c.3377T>C (p.Leu1126Pro) c.2666T>C (p.Leu889Pro) | dbSNP gnomAD v4 |
X | g.153954824A>T | CA415122946 | HCFC1 | c.3575T>A (p.Leu1192His) c.3377T>A (p.Leu1126His) c.2666T>A (p.Leu889His) | |
X | g.153954825G>A | CA415122949 | HCFC1 | c.3574C>T (p.Leu1192Phe) c.3376C>T (p.Leu1126Phe) c.2665C>T (p.Leu889Phe) | gnomAD v4 |
X | g.153954825G>C | CA415122953 | HCFC1 | c.3574C>G (p.Leu1192Val) c.3376C>G (p.Leu1126Val) c.2665C>G (p.Leu889Val) | |
X | g.153954825G>T | CA415122956 | HCFC1 | c.3574C>A (p.Leu1192Ile) c.3376C>A (p.Leu1126Ile) c.2665C>A (p.Leu889Ile) | gnomAD v4 |