| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.153954439_153954522del | CA2695088895 | HCFC1 | c.3882_3965del (p.Glu1295_Cys1322del) c.3684_3767del (p.Glu1229_Cys1256del) c.2973_3056del (p.Glu992_Cys1019del) | gnomAD v4 |
| X | g.153954449C>A | CA415118548 | HCFC1 | c.3950G>T (p.Cys1317Phe) c.3752G>T (p.Cys1251Phe) c.3041G>T (p.Cys1014Phe) | gnomAD v4 |
| X | g.153954449C>G | CA415118550 | HCFC1 | c.3950G>C (p.Cys1317Ser) c.3752G>C (p.Cys1251Ser) c.3041G>C (p.Cys1014Ser) | |
| X | g.153954449C>T | CA415118553 | HCFC1 | c.3950G>A (p.Cys1317Tyr) c.3752G>A (p.Cys1251Tyr) c.3041G>A (p.Cys1014Tyr) | |
| X | g.153954450A>C | CA415118556 | HCFC1 | c.3949T>G (p.Cys1317Gly) c.3751T>G (p.Cys1251Gly) c.3040T>G (p.Cys1014Gly) | |
| X | g.153954450A>G | CA415118557 | HCFC1 | c.3949T>C (p.Cys1317Arg) c.3751T>C (p.Cys1251Arg) c.3040T>C (p.Cys1014Arg) | |
| X | g.153954450A>T | CA415118559 | HCFC1 | c.3949T>A (p.Cys1317Ser) c.3751T>A (p.Cys1251Ser) c.3040T>A (p.Cys1014Ser) | |
| X | g.153954451C>A | CA519702541 | HCFC1 | c.3948G>T (p.Val1316=) c.3750G>T (p.Val1250=) c.3039G>T (p.Val1013=) | |
| X | g.153954451C>G | CA519702540 | HCFC1 | c.3948G>C (p.Val1316=) c.3750G>C (p.Val1250=) c.3039G>C (p.Val1013=) | |
| X | g.153954451C>T | CA519702538 | HCFC1 | c.3948G>A (p.Val1316=) c.3750G>A (p.Val1250=) c.3039G>A (p.Val1013=) | |
| X | g.153954452A= | CA2466540132 | HCFC1 | c.3947T= (p.Val1316=) c.3749T= (p.Val1250=) c.3038T= (p.Val1013=) | |
| X | g.153954452A>C | CA415118561 | HCFC1 | c.3947T>G (p.Val1316Gly) c.3749T>G (p.Val1250Gly) c.3038T>G (p.Val1013Gly) | |
| X | g.153954452A>G | CA415118563 | HCFC1 | c.3947T>C (p.Val1316Ala) c.3749T>C (p.Val1250Ala) c.3038T>C (p.Val1013Ala) | dbSNP |
| X | g.153954452A>T | CA415118565 | HCFC1 | c.3947T>A (p.Val1316Glu) c.3749T>A (p.Val1250Glu) c.3038T>A (p.Val1013Glu) | |
| X | g.153954453C>A | CA415118574 | HCFC1 | c.3946G>T (p.Val1316Leu) c.3748G>T (p.Val1250Leu) c.3037G>T (p.Val1013Leu) | |
| X | g.153954453C= | CA2466540133 | HCFC1 | c.3946G= (p.Val1316=) c.3748G= (p.Val1250=) c.3037G= (p.Val1013=) | |
| X | g.153954453C>G | CA415118571 | HCFC1 | c.3946G>C (p.Val1316Leu) c.3748G>C (p.Val1250Leu) c.3037G>C (p.Val1013Leu) | |
| X | g.153954453C>T | CA10557106 | HCFC1 | c.3946G>A (p.Val1316Met) c.3748G>A (p.Val1250Met) c.3037G>A (p.Val1013Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153954454C>A | CA415118577 | HCFC1 | c.3945G>T (p.Arg1315Ser) c.3747G>T (p.Arg1249Ser) c.3036G>T (p.Arg1012Ser) | |
| X | g.153954454C>G | CA415118580 | HCFC1 | c.3945G>C (p.Arg1315Ser) c.3747G>C (p.Arg1249Ser) c.3036G>C (p.Arg1012Ser) | |
| X | g.153954454C>T | CA519702546 | HCFC1 | c.3945G>A (p.Arg1315=) c.3747G>A (p.Arg1249=) c.3036G>A (p.Arg1012=) | |
| X | g.153954455C>A | CA415118582 | HCFC1 | c.3944G>T (p.Arg1315Met) c.3746G>T (p.Arg1249Met) c.3035G>T (p.Arg1012Met) | |
| X | g.153954455C>G | CA415118586 | HCFC1 | c.3944G>C (p.Arg1315Thr) c.3746G>C (p.Arg1249Thr) c.3035G>C (p.Arg1012Thr) | |
| X | g.153954455C>T | CA415118587 | HCFC1 | c.3944G>A (p.Arg1315Lys) c.3746G>A (p.Arg1249Lys) c.3035G>A (p.Arg1012Lys) | gnomAD v4 |
| X | g.153954456T>A | CA415118589 | HCFC1 | c.3943A>T (p.Arg1315Trp) c.3745A>T (p.Arg1249Trp) c.3034A>T (p.Arg1012Trp) | |
| X | g.153954456T>C | CA415118590 | HCFC1 | c.3943A>G (p.Arg1315Gly) c.3745A>G (p.Arg1249Gly) c.3034A>G (p.Arg1012Gly) | |
| X | g.153954456T>G | CA10557107 | HCFC1 | c.3943A>C (p.Arg1315=) c.3745A>C (p.Arg1249=) c.3034A>C (p.Arg1012=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153954456T= | CA2466540134 | HCFC1 | c.3943A= (p.Arg1315=) c.3745A= (p.Arg1249=) c.3034A= (p.Arg1012=) | |
| X | g.153954457C>A | CA415118594 | HCFC1 | c.3942G>T (p.Gln1314His) c.3744G>T (p.Gln1248His) c.3033G>T (p.Gln1011His) | dbSNP |
| X | g.153954457C= | CA2466540135 | HCFC1 | c.3942G= (p.Gln1314=) c.3744G= (p.Gln1248=) c.3033G= (p.Gln1011=) | |
| X | g.153954457C>G | CA415118596 | HCFC1 | c.3942G>C (p.Gln1314His) c.3744G>C (p.Gln1248His) c.3033G>C (p.Gln1011His) | |
| X | g.153954457C>T | CA519702550 | HCFC1 | c.3942G>A (p.Gln1314=) c.3744G>A (p.Gln1248=) c.3033G>A (p.Gln1011=) | |
| X | g.153954458T>A | CA415118599 | HCFC1 | c.3941A>T (p.Gln1314Leu) c.3743A>T (p.Gln1248Leu) c.3032A>T (p.Gln1011Leu) | |
| X | g.153954458T>C | CA10557108 | HCFC1 | c.3941A>G (p.Gln1314Arg) c.3743A>G (p.Gln1248Arg) c.3032A>G (p.Gln1011Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153954458T>G | CA415118603 | HCFC1 | c.3941A>C (p.Gln1314Pro) c.3743A>C (p.Gln1248Pro) c.3032A>C (p.Gln1011Pro) | |
| X | g.153954458T= | CA2466540136 | HCFC1 | c.3941A= (p.Gln1314=) c.3743A= (p.Gln1248=) c.3032A= (p.Gln1011=) | |
| X | g.153954459G>A | CA415118608 | HCFC1 | c.3940C>T (p.Gln1314Ter) c.3742C>T (p.Gln1248Ter) c.3031C>T (p.Gln1011Ter) | COSMIC COSMIC |
| X | g.153954459G>C | CA415118610 | HCFC1 | c.3940C>G (p.Gln1314Glu) c.3742C>G (p.Gln1248Glu) c.3031C>G (p.Gln1011Glu) | |
| X | g.153954459G>T | CA415118605 | HCFC1 | c.3940C>A (p.Gln1314Lys) c.3742C>A (p.Gln1248Lys) c.3031C>A (p.Gln1011Lys) | |
| X | g.153954460G>A | CA519702554 | HCFC1 | c.3939C>T (p.Ala1313=) c.3741C>T (p.Ala1247=) c.3030C>T (p.Ala1010=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153954460G>C | CA519702556 | HCFC1 | c.3939C>G (p.Ala1313=) c.3741C>G (p.Ala1247=) c.3030C>G (p.Ala1010=) | |
| X | g.153954460G= | CA2466540137 | HCFC1 | c.3939C= (p.Ala1313=) c.3741C= (p.Ala1247=) c.3030C= (p.Ala1010=) | |
| X | g.153954460G>T | CA519702558 | HCFC1 | c.3939C>A (p.Ala1313=) c.3741C>A (p.Ala1247=) c.3030C>A (p.Ala1010=) | |
| X | g.153954461G>A | CA415118612 | HCFC1 | c.3938C>T (p.Ala1313Val) c.3740C>T (p.Ala1247Val) c.3029C>T (p.Ala1010Val) | COSMIC COSMIC |
| X | g.153954461G>C | CA415118613 | HCFC1 | c.3938C>G (p.Ala1313Gly) c.3740C>G (p.Ala1247Gly) c.3029C>G (p.Ala1010Gly) | |
| X | g.153954461G>T | CA415118616 | HCFC1 | c.3938C>A (p.Ala1313Asp) c.3740C>A (p.Ala1247Asp) c.3029C>A (p.Ala1010Asp) | gnomAD v4 |
| X | g.153954462C>A | CA415118619 | HCFC1 | c.3937G>T (p.Ala1313Ser) c.3739G>T (p.Ala1247Ser) c.3028G>T (p.Ala1010Ser) | |
| X | g.153954462C= | CA2466540138 | HCFC1 | c.3937G= (p.Ala1313=) c.3739G= (p.Ala1247=) c.3028G= (p.Ala1010=) | |
| X | g.153954462C>G | CA415118621 | HCFC1 | c.3937G>C (p.Ala1313Pro) c.3739G>C (p.Ala1247Pro) c.3028G>C (p.Ala1010Pro) | |
| X | g.153954462C>T | CA337252495 | HCFC1 | c.3937G>A (p.Ala1313Thr) c.3739G>A (p.Ala1247Thr) c.3028G>A (p.Ala1010Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153954463G>A | CA10557109 | HCFC1 | c.3936C>T (p.Ser1312=) c.3738C>T (p.Ser1246=) c.3027C>T (p.Ser1009=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.153954463G>C | CA415118627 | HCFC1 | c.3936C>G (p.Ser1312Arg) c.3738C>G (p.Ser1246Arg) c.3027C>G (p.Ser1009Arg) | |
| X | g.153954463G= | CA2466540139 | HCFC1 | c.3936C= (p.Ser1312=) c.3738C= (p.Ser1246=) c.3027C= (p.Ser1009=) | |
| X | g.153954463G>T | CA415118630 | HCFC1 | c.3936C>A (p.Ser1312Arg) c.3738C>A (p.Ser1246Arg) c.3027C>A (p.Ser1009Arg) | |
| X | g.153954464C>A | CA415118633 | HCFC1 | c.3935G>T (p.Ser1312Ile) c.3737G>T (p.Ser1246Ile) c.3026G>T (p.Ser1009Ile) | |
| X | g.153954464C>G | CA415118635 | HCFC1 | c.3935G>C (p.Ser1312Thr) c.3737G>C (p.Ser1246Thr) c.3026G>C (p.Ser1009Thr) | |
| X | g.153954464C>T | CA415118637 | HCFC1 | c.3935G>A (p.Ser1312Asn) c.3737G>A (p.Ser1246Asn) c.3026G>A (p.Ser1009Asn) | |
| X | g.153954465T>A | CA415118642 | HCFC1 | c.3934A>T (p.Ser1312Cys) c.3736A>T (p.Ser1246Cys) c.3025A>T (p.Ser1009Cys) | |
| X | g.153954465T>C | CA415118638 | HCFC1 | c.3934A>G (p.Ser1312Gly) c.3736A>G (p.Ser1246Gly) c.3025A>G (p.Ser1009Gly) | gnomAD v4 |
| X | g.153954465T>G | CA415118641 | HCFC1 | c.3934A>C (p.Ser1312Arg) c.3736A>C (p.Ser1246Arg) c.3025A>C (p.Ser1009Arg) | |
| X | g.153954466G>A | CA519702570 | HCFC1 | c.3933C>T (p.Gly1311=) c.3735C>T (p.Gly1245=) c.3024C>T (p.Gly1008=) | |
| X | g.153954466G>C | CA10557110 | HCFC1 | c.3933C>G (p.Gly1311=) c.3735C>G (p.Gly1245=) c.3024C>G (p.Gly1008=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153954466G= | CA2466540140 | HCFC1 | c.3933C= (p.Gly1311=) c.3735C= (p.Gly1245=) c.3024C= (p.Gly1008=) | |
| X | g.153954466G>T | CA519702567 | HCFC1 | c.3933C>A (p.Gly1311=) c.3735C>A (p.Gly1245=) c.3024C>A (p.Gly1008=) | |
| X | g.153954467C>A | CA415118646 | HCFC1 | c.3932G>T (p.Gly1311Val) c.3734G>T (p.Gly1245Val) c.3023G>T (p.Gly1008Val) | |
| X | g.153954467C>G | CA415118648 | HCFC1 | c.3932G>C (p.Gly1311Ala) c.3734G>C (p.Gly1245Ala) c.3023G>C (p.Gly1008Ala) | |
| X | g.153954467C>T | CA415118649 | HCFC1 | c.3932G>A (p.Gly1311Asp) c.3734G>A (p.Gly1245Asp) c.3023G>A (p.Gly1008Asp) | |
| X | g.153954468C>A | CA415118650 | HCFC1 | c.3931G>T (p.Gly1311Cys) c.3733G>T (p.Gly1245Cys) c.3022G>T (p.Gly1008Cys) | |
| X | g.153954468C>G | CA415118651 | HCFC1 | c.3931G>C (p.Gly1311Arg) c.3733G>C (p.Gly1245Arg) c.3022G>C (p.Gly1008Arg) | |
| X | g.153954468C>T | CA415118652 | HCFC1 | c.3931G>A (p.Gly1311Ser) c.3733G>A (p.Gly1245Ser) c.3022G>A (p.Gly1008Ser) | |
| X | g.153954469T>A | CA10557111 | HCFC1 | c.3930A>T (p.Ala1310=) c.3732A>T (p.Ala1244=) c.3021A>T (p.Ala1007=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153954469T>C | CA519702575 | HCFC1 | c.3930A>G (p.Ala1310=) c.3732A>G (p.Ala1244=) c.3021A>G (p.Ala1007=) | |
| X | g.153954469T>G | CA519702574 | HCFC1 | c.3930A>C (p.Ala1310=) c.3732A>C (p.Ala1244=) c.3021A>C (p.Ala1007=) | |
| X | g.153954469T= | CA2466540141 | HCFC1 | c.3930A= (p.Ala1310=) c.3732A= (p.Ala1244=) c.3021A= (p.Ala1007=) | |
| X | g.153954470G>A | CA415118654 | HCFC1 | c.3929C>T (p.Ala1310Val) c.3731C>T (p.Ala1244Val) c.3020C>T (p.Ala1007Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153954470G>C | CA415118656 | HCFC1 | c.3929C>G (p.Ala1310Gly) c.3731C>G (p.Ala1244Gly) c.3020C>G (p.Ala1007Gly) | |
| X | g.153954470G= | CA2466540142 | HCFC1 | c.3929C= (p.Ala1310=) c.3731C= (p.Ala1244=) c.3020C= (p.Ala1007=) | |
| X | g.153954470G>T | CA415118658 | HCFC1 | c.3929C>A (p.Ala1310Glu) c.3731C>A (p.Ala1244Glu) c.3020C>A (p.Ala1007Glu) | |
| X | g.153954471C>A | CA415118663 | HCFC1 | c.3928G>T (p.Ala1310Ser) c.3730G>T (p.Ala1244Ser) c.3019G>T (p.Ala1007Ser) | |
| X | g.153954471C>G | CA415118665 | HCFC1 | c.3928G>C (p.Ala1310Pro) c.3730G>C (p.Ala1244Pro) c.3019G>C (p.Ala1007Pro) | |
| X | g.153954471C>T | CA415118661 | HCFC1 | c.3928G>A (p.Ala1310Thr) c.3730G>A (p.Ala1244Thr) c.3019G>A (p.Ala1007Thr) | |
| X | g.153954472A= | CA2466540143 | HCFC1 | c.3927T= (p.Asn1309=) c.3729T= (p.Asn1243=) c.3018T= (p.Asn1006=) | |
| X | g.153954472A>C | CA415118669 | HCFC1 | c.3927T>G (p.Asn1309Lys) c.3729T>G (p.Asn1243Lys) c.3018T>G (p.Asn1006Lys) | dbSNP |
| X | g.153954472A>G | CA519702580 | HCFC1 | c.3927T>C (p.Asn1309=) c.3729T>C (p.Asn1243=) c.3018T>C (p.Asn1006=) | |
| X | g.153954472A>T | CA415118670 | HCFC1 | c.3927T>A (p.Asn1309Lys) c.3729T>A (p.Asn1243Lys) c.3018T>A (p.Asn1006Lys) | |
| X | g.153954473T>A | CA415118673 | HCFC1 | c.3926A>T (p.Asn1309Ile) c.3728A>T (p.Asn1243Ile) c.3017A>T (p.Asn1006Ile) | |
| X | g.153954473T>C | CA415118679 | HCFC1 | c.3926A>G (p.Asn1309Ser) c.3728A>G (p.Asn1243Ser) c.3017A>G (p.Asn1006Ser) | |
| X | g.153954473T>G | CA415118676 | HCFC1 | c.3926A>C (p.Asn1309Thr) c.3728A>C (p.Asn1243Thr) c.3017A>C (p.Asn1006Thr) | |
| X | g.153954474T>A | CA415118681 | HCFC1 | c.3925A>T (p.Asn1309Tyr) c.3727A>T (p.Asn1243Tyr) c.3016A>T (p.Asn1006Tyr) | |
| X | g.153954474T>C | CA415118684 | HCFC1 | c.3925A>G (p.Asn1309Asp) c.3727A>G (p.Asn1243Asp) c.3016A>G (p.Asn1006Asp) | |
| X | g.153954474T>G | CA415118682 | HCFC1 | c.3925A>C (p.Asn1309His) c.3727A>C (p.Asn1243His) c.3016A>C (p.Asn1006His) | |
| X | g.153954475C>A | CA519702588 | HCFC1 | c.3924G>T (p.Ser1308=) c.3726G>T (p.Ser1242=) c.3015G>T (p.Ser1005=) | |
| X | g.153954475C= | CA2466540144 | HCFC1 | c.3924G= (p.Ser1308=) c.3726G= (p.Ser1242=) c.3015G= (p.Ser1005=) | |
| X | g.153954475C>G | CA519702589 | HCFC1 | c.3924G>C (p.Ser1308=) c.3726G>C (p.Ser1242=) c.3015G>C (p.Ser1005=) | |
| X | g.153954475C>T | CA519702590 | HCFC1 | c.3924G>A (p.Ser1308=) c.3726G>A (p.Ser1242=) c.3015G>A (p.Ser1005=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.153954476G>A | CA415118686 | HCFC1 | c.3923C>T (p.Ser1308Leu) c.3725C>T (p.Ser1242Leu) c.3014C>T (p.Ser1005Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.153954476G>C | CA415118689 | HCFC1 | c.3923C>G (p.Ser1308Trp) c.3725C>G (p.Ser1242Trp) c.3014C>G (p.Ser1005Trp) | |
| X | g.153954476G= | CA2466540145 | HCFC1 | c.3923C= (p.Ser1308=) c.3725C= (p.Ser1242=) c.3014C= (p.Ser1005=) | |
| X | g.153954476G>T | CA415118691 | HCFC1 | c.3923C>A (p.Ser1308Ter) c.3725C>A (p.Ser1242Ter) c.3014C>A (p.Ser1005Ter) | |
| X | g.153954477A>C | CA415118693 | HCFC1 | c.3922T>G (p.Ser1308Ala) c.3724T>G (p.Ser1242Ala) c.3013T>G (p.Ser1005Ala) | |
| X | g.153954477A>G | CA415118695 | HCFC1 | c.3922T>C (p.Ser1308Pro) c.3724T>C (p.Ser1242Pro) c.3013T>C (p.Ser1005Pro) | |
| X | g.153954477A>T | CA415118697 | HCFC1 | c.3922T>A (p.Ser1308Thr) c.3724T>A (p.Ser1242Thr) c.3013T>A (p.Ser1005Thr) | |
| X | g.153954478G>A | CA519702596 | HCFC1 | c.3921C>T (p.Thr1307=) c.3723C>T (p.Thr1241=) c.3012C>T (p.Thr1004=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.153954478G>C | CA519702598 | HCFC1 | c.3921C>G (p.Thr1307=) c.3723C>G (p.Thr1241=) c.3012C>G (p.Thr1004=) | |
| X | g.153954478G= | CA2466540146 | HCFC1 | c.3921C= (p.Thr1307=) c.3723C= (p.Thr1241=) c.3012C= (p.Thr1004=) | |
| X | g.153954478G>T | CA519702600 | HCFC1 | c.3921C>A (p.Thr1307=) c.3723C>A (p.Thr1241=) c.3012C>A (p.Thr1004=) | |
| X | g.153954479G>A | CA415118699 | HCFC1 | c.3920C>T (p.Thr1307Ile) c.3722C>T (p.Thr1241Ile) c.3011C>T (p.Thr1004Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153954479G>C | CA415118701 | HCFC1 | c.3920C>G (p.Thr1307Ser) c.3722C>G (p.Thr1241Ser) c.3011C>G (p.Thr1004Ser) | |
| X | g.153954479G= | CA2466540147 | HCFC1 | c.3920C= (p.Thr1307=) c.3722C= (p.Thr1241=) c.3011C= (p.Thr1004=) | |
| X | g.153954479G>T | CA415118704 | HCFC1 | c.3920C>A (p.Thr1307Asn) c.3722C>A (p.Thr1241Asn) c.3011C>A (p.Thr1004Asn) | |
| X | g.153954480T>A | CA415118706 | HCFC1 | c.3919A>T (p.Thr1307Ser) c.3721A>T (p.Thr1241Ser) c.3010A>T (p.Thr1004Ser) | |
| X | g.153954480T>C | CA415118709 | HCFC1 | c.3919A>G (p.Thr1307Ala) c.3721A>G (p.Thr1241Ala) c.3010A>G (p.Thr1004Ala) | |
| X | g.153954480T>G | CA415118711 | HCFC1 | c.3919A>C (p.Thr1307Pro) c.3721A>C (p.Thr1241Pro) c.3010A>C (p.Thr1004Pro) | |
| X | g.153954481A= | CA2466540148 | HCFC1 | c.3918T= (p.Thr1306=) c.3720T= (p.Thr1240=) c.3009T= (p.Thr1003=) | |
| X | g.153954481A>C | CA519702606 | HCFC1 | c.3918T>G (p.Thr1306=) c.3720T>G (p.Thr1240=) c.3009T>G (p.Thr1003=) | |
| X | g.153954481A>G | CA519702607 | HCFC1 | c.3918T>C (p.Thr1306=) c.3720T>C (p.Thr1240=) c.3009T>C (p.Thr1003=) | gnomAD v3 gnomAD v4 |
| X | g.153954481A>T | CA519702608 | HCFC1 | c.3918T>A (p.Thr1306=) c.3720T>A (p.Thr1240=) c.3009T>A (p.Thr1003=) | dbSNP |
| X | g.153954482G>A | CA415118714 | HCFC1 | c.3917C>T (p.Thr1306Ile) c.3719C>T (p.Thr1240Ile) c.3008C>T (p.Thr1003Ile) | |
| X | g.153954482G>C | CA415118718 | HCFC1 | c.3917C>G (p.Thr1306Ser) c.3719C>G (p.Thr1240Ser) c.3008C>G (p.Thr1003Ser) | |
| X | g.153954482G>T | CA415118716 | HCFC1 | c.3917C>A (p.Thr1306Asn) c.3719C>A (p.Thr1240Asn) c.3008C>A (p.Thr1003Asn) | |
| X | g.153954483T>A | CA415118722 | HCFC1 | c.3916A>T (p.Thr1306Ser) c.3718A>T (p.Thr1240Ser) c.3007A>T (p.Thr1003Ser) | |
| X | g.153954483T>C | CA415118724 | HCFC1 | c.3916A>G (p.Thr1306Ala) c.3718A>G (p.Thr1240Ala) c.3007A>G (p.Thr1003Ala) | dbSNP |
| X | g.153954483T>G | CA415118727 | HCFC1 | c.3916A>C (p.Thr1306Pro) c.3718A>C (p.Thr1240Pro) c.3007A>C (p.Thr1003Pro) | |
| X | g.153954483T= | CA2466540149 | HCFC1 | c.3916A= (p.Thr1306=) c.3718A= (p.Thr1240=) c.3007A= (p.Thr1003=) | |
| X | g.153954484G>A | CA519702613 | HCFC1 | c.3915C>T (p.Ala1305=) c.3717C>T (p.Ala1239=) c.3006C>T (p.Ala1002=) | |
| X | g.153954484G>C | CA519702614 | HCFC1 | c.3915C>G (p.Ala1305=) c.3717C>G (p.Ala1239=) c.3006C>G (p.Ala1002=) | |
| X | g.153954484G>T | CA519702616 | HCFC1 | c.3915C>A (p.Ala1305=) c.3717C>A (p.Ala1239=) c.3006C>A (p.Ala1002=) | |
| X | g.153954485G>A | CA415118730 | HCFC1 | c.3914C>T (p.Ala1305Val) c.3716C>T (p.Ala1239Val) c.3005C>T (p.Ala1002Val) | gnomAD v4 |
| X | g.153954485G>C | CA415118731 | HCFC1 | c.3914C>G (p.Ala1305Gly) c.3716C>G (p.Ala1239Gly) c.3005C>G (p.Ala1002Gly) | |
| X | g.153954485G>T | CA415118732 | HCFC1 | c.3914C>A (p.Ala1305Asp) c.3716C>A (p.Ala1239Asp) c.3005C>A (p.Ala1002Asp) | |
| X | g.153954486C>A | CA415118734 | HCFC1 | c.3913G>T (p.Ala1305Ser) c.3715G>T (p.Ala1239Ser) c.3004G>T (p.Ala1002Ser) | |
| X | g.153954486C= | CA2466540150 | HCFC1 | c.3913G= (p.Ala1305=) c.3715G= (p.Ala1239=) c.3004G= (p.Ala1002=) | |
| X | g.153954486C>G | CA415118735 | HCFC1 | c.3913G>C (p.Ala1305Pro) c.3715G>C (p.Ala1239Pro) c.3004G>C (p.Ala1002Pro) | |
| X | g.153954486C>T | CA415118737 | HCFC1 | c.3913G>A (p.Ala1305Thr) c.3715G>A (p.Ala1239Thr) c.3004G>A (p.Ala1002Thr) | dbSNP |
| X | g.153954487G>A | CA10557112 | HCFC1 | c.3912C>T (p.Thr1304=) c.3714C>T (p.Thr1238=) c.3003C>T (p.Thr1001=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153954487G>C | CA519702622 | HCFC1 | c.3912C>G (p.Thr1304=) c.3714C>G (p.Thr1238=) c.3003C>G (p.Thr1001=) | |
| X | g.153954487G= | CA2466540151 | HCFC1 | c.3912C= (p.Thr1304=) c.3714C= (p.Thr1238=) c.3003C= (p.Thr1001=) | |
| X | g.153954487G>T | CA519702620 | HCFC1 | c.3912C>A (p.Thr1304=) c.3714C>A (p.Thr1238=) c.3003C>A (p.Thr1001=) | COSMIC COSMIC |
| X | g.153954488G>A | CA415118746 | HCFC1 | c.3911C>T (p.Thr1304Ile) c.3713C>T (p.Thr1238Ile) c.3002C>T (p.Thr1001Ile) | |
| X | g.153954488G>C | CA415118741 | HCFC1 | c.3911C>G (p.Thr1304Ser) c.3713C>G (p.Thr1238Ser) c.3002C>G (p.Thr1001Ser) | |
| X | g.153954488G>T | CA415118744 | HCFC1 | c.3911C>A (p.Thr1304Asn) c.3713C>A (p.Thr1238Asn) c.3002C>A (p.Thr1001Asn) | |
| X | g.153954489T>A | CA415118750 | HCFC1 | c.3910A>T (p.Thr1304Ser) c.3712A>T (p.Thr1238Ser) c.3001A>T (p.Thr1001Ser) | |
| X | g.153954489T>C | CA415118752 | HCFC1 | c.3910A>G (p.Thr1304Ala) c.3712A>G (p.Thr1238Ala) c.3001A>G (p.Thr1001Ala) | |
| X | g.153954489T>G | CA10557113 | HCFC1 | c.3910A>C (p.Thr1304Pro) c.3712A>C (p.Thr1238Pro) c.3001A>C (p.Thr1001Pro) | dbSNP ExAC gnomAD v2 |
| X | g.153954489T= | CA2466540152 | HCFC1 | c.3910A= (p.Thr1304=) c.3712A= (p.Thr1238=) c.3001A= (p.Thr1001=) | |
| X | g.153954490G>A | CA10557114 | HCFC1 | c.3909C>T (p.Asn1303=) c.3711C>T (p.Asn1237=) c.3000C>T (p.Asn1000=) | dbSNP ExAC gnomAD v4 |
| X | g.153954490G>C | CA415118758 | HCFC1 | c.3909C>G (p.Asn1303Lys) c.3711C>G (p.Asn1237Lys) c.3000C>G (p.Asn1000Lys) | |
| X | g.153954490G= | CA2466540153 | HCFC1 | c.3909C= (p.Asn1303=) c.3711C= (p.Asn1237=) c.3000C= (p.Asn1000=) | |
| X | g.153954490G>T | CA415118761 | HCFC1 | c.3909C>A (p.Asn1303Lys) c.3711C>A (p.Asn1237Lys) c.3000C>A (p.Asn1000Lys) | COSMIC COSMIC |
| X | g.153954491T>A | CA415118763 | HCFC1 | c.3908A>T (p.Asn1303Ile) c.3710A>T (p.Asn1237Ile) c.2999A>T (p.Asn1000Ile) | |
| X | g.153954491T>C | CA415118765 | HCFC1 | c.3908A>G (p.Asn1303Ser) c.3710A>G (p.Asn1237Ser) c.2999A>G (p.Asn1000Ser) | |
| X | g.153954491T>G | CA415118768 | HCFC1 | c.3908A>C (p.Asn1303Thr) c.3710A>C (p.Asn1237Thr) c.2999A>C (p.Asn1000Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153954491T= | CA2466540154 | HCFC1 | c.3908A= (p.Asn1303=) c.3710A= (p.Asn1237=) c.2999A= (p.Asn1000=) | |
| X | g.153954492T>A | CA415118774 | HCFC1 | c.3907A>T (p.Asn1303Tyr) c.3709A>T (p.Asn1237Tyr) c.2998A>T (p.Asn1000Tyr) | |
| X | g.153954492T>C | CA415118771 | HCFC1 | c.3907A>G (p.Asn1303Asp) c.3709A>G (p.Asn1237Asp) c.2998A>G (p.Asn1000Asp) | |
| X | g.153954492T>G | CA415118772 | HCFC1 | c.3907A>C (p.Asn1303His) c.3709A>C (p.Asn1237His) c.2998A>C (p.Asn1000His) | |
| X | g.153954493G>A | CA519702630 | HCFC1 | c.3906C>T (p.Thr1302=) c.3708C>T (p.Thr1236=) c.2997C>T (p.Thr999=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153954493G>C | CA519702634 | HCFC1 | c.3906C>G (p.Thr1302=) c.3708C>G (p.Thr1236=) c.2997C>G (p.Thr999=) | gnomAD v4 |
| X | g.153954493G= | CA2466540155 | HCFC1 | c.3906C= (p.Thr1302=) c.3708C= (p.Thr1236=) c.2997C= (p.Thr999=) | |
| X | g.153954493G>T | CA519702632 | HCFC1 | c.3906C>A (p.Thr1302=) c.3708C>A (p.Thr1236=) c.2997C>A (p.Thr999=) | |
| X | g.153954494G>A | CA10557115 | HCFC1 | c.3905C>T (p.Thr1302Ile) c.3707C>T (p.Thr1236Ile) c.2996C>T (p.Thr999Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153954494G>C | CA415118779 | HCFC1 | c.3905C>G (p.Thr1302Ser) c.3707C>G (p.Thr1236Ser) c.2996C>G (p.Thr999Ser) | |
| X | g.153954494G= | CA2466540156 | HCFC1 | c.3905C= (p.Thr1302=) c.3707C= (p.Thr1236=) c.2996C= (p.Thr999=) | |
| X | g.153954494G>T | CA415118783 | HCFC1 | c.3905C>A (p.Thr1302Asn) c.3707C>A (p.Thr1236Asn) c.2996C>A (p.Thr999Asn) | |
| X | g.153954495T>A | CA415118785 | HCFC1 | c.3904A>T (p.Thr1302Ser) c.3706A>T (p.Thr1236Ser) c.2995A>T (p.Thr999Ser) | |
| X | g.153954495T>C | CA415118788 | HCFC1 | c.3904A>G (p.Thr1302Ala) c.3706A>G (p.Thr1236Ala) c.2995A>G (p.Thr999Ala) | |
| X | g.153954495T>G | CA415118789 | HCFC1 | c.3904A>C (p.Thr1302Pro) c.3706A>C (p.Thr1236Pro) c.2995A>C (p.Thr999Pro) | |
| X | g.153954496G>A | CA10557116 | HCFC1 | c.3903C>T (p.Thr1301=) c.3705C>T (p.Thr1235=) c.2994C>T (p.Thr998=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153954496G>C | CA519702638 | HCFC1 | c.3903C>G (p.Thr1301=) c.3705C>G (p.Thr1235=) c.2994C>G (p.Thr998=) | |
| X | g.153954496G= | CA2466540157 | HCFC1 | c.3903C= (p.Thr1301=) c.3705C= (p.Thr1235=) c.2994C= (p.Thr998=) | |
| X | g.153954496G>T | CA519702639 | HCFC1 | c.3903C>A (p.Thr1301=) c.3705C>A (p.Thr1235=) c.2994C>A (p.Thr998=) | |
| X | g.153954497G>A | CA337252545 | HCFC1 | c.3902C>T (p.Thr1301Ile) c.3704C>T (p.Thr1235Ile) c.2993C>T (p.Thr998Ile) | dbSNP |
| X | g.153954497G>C | CA415118794 | HCFC1 | c.3902C>G (p.Thr1301Ser) c.3704C>G (p.Thr1235Ser) c.2993C>G (p.Thr998Ser) | |
| X | g.153954497G= | CA2466540158 | HCFC1 | c.3902C= (p.Thr1301=) c.3704C= (p.Thr1235=) c.2993C= (p.Thr998=) | |
| X | g.153954497G>T | CA415118796 | HCFC1 | c.3902C>A (p.Thr1301Asn) c.3704C>A (p.Thr1235Asn) c.2993C>A (p.Thr998Asn) | |
| X | g.153954498T>A | CA415118807 | HCFC1 | c.3901A>T (p.Thr1301Ser) c.3703A>T (p.Thr1235Ser) c.2992A>T (p.Thr998Ser) | |
| X | g.153954498T>C | CA415118806 | HCFC1 | c.3901A>G (p.Thr1301Ala) c.3703A>G (p.Thr1235Ala) c.2992A>G (p.Thr998Ala) | |
| X | g.153954498T>G | CA415118803 | HCFC1 | c.3901A>C (p.Thr1301Pro) c.3703A>C (p.Thr1235Pro) c.2992A>C (p.Thr998Pro) | |
| X | g.153954499G>A | CA519702641 | HCFC1 | c.3900C>T (p.Gly1300=) c.3702C>T (p.Gly1234=) c.2991C>T (p.Gly997=) | |
| X | g.153954499G>C | CA519702642 | HCFC1 | c.3900C>G (p.Gly1300=) c.3702C>G (p.Gly1234=) c.2991C>G (p.Gly997=) | |
| X | g.153954499G>T | CA519702643 | HCFC1 | c.3900C>A (p.Gly1300=) c.3702C>A (p.Gly1234=) c.2991C>A (p.Gly997=) | |
| X | g.153954500C>A | CA415118810 | HCFC1 | c.3899G>T (p.Gly1300Val) c.3701G>T (p.Gly1234Val) c.2990G>T (p.Gly997Val) | |
| X | g.153954500C>G | CA415118813 | HCFC1 | c.3899G>C (p.Gly1300Ala) c.3701G>C (p.Gly1234Ala) c.2990G>C (p.Gly997Ala) | |
| X | g.153954500C>T | CA415118811 | HCFC1 | c.3899G>A (p.Gly1300Asp) c.3701G>A (p.Gly1234Asp) c.2990G>A (p.Gly997Asp) | gnomAD v4 |
| X | g.153954501C>A | CA415118816 | HCFC1 | c.3898G>T (p.Gly1300Cys) c.3700G>T (p.Gly1234Cys) c.2989G>T (p.Gly997Cys) | |
| X | g.153954501C>G | CA415118818 | HCFC1 | c.3898G>C (p.Gly1300Arg) c.3700G>C (p.Gly1234Arg) c.2989G>C (p.Gly997Arg) | |
| X | g.153954501C>T | CA415118819 | HCFC1 | c.3898G>A (p.Gly1300Ser) c.3700G>A (p.Gly1234Ser) c.2989G>A (p.Gly997Ser) | |
| X | g.153954502T>A | CA519702649 | HCFC1 | c.3897A>T (p.Thr1299=) c.3699A>T (p.Thr1233=) c.2988A>T (p.Thr996=) | |
| X | g.153954502T>C | CA519702647 | HCFC1 | c.3897A>G (p.Thr1299=) c.3699A>G (p.Thr1233=) c.2988A>G (p.Thr996=) | gnomAD v3 gnomAD v4 |
| X | g.153954502T>G | CA519702648 | HCFC1 | c.3897A>C (p.Thr1299=) c.3699A>C (p.Thr1233=) c.2988A>C (p.Thr996=) | |
| X | g.153954503G>A | CA415118820 | HCFC1 | c.3896C>T (p.Thr1299Ile) c.3698C>T (p.Thr1233Ile) c.2987C>T (p.Thr996Ile) | COSMIC COSMIC |
| X | g.153954503G>C | CA415118821 | HCFC1 | c.3896C>G (p.Thr1299Arg) c.3698C>G (p.Thr1233Arg) c.2987C>G (p.Thr996Arg) | |
| X | g.153954503G>T | CA415118822 | HCFC1 | c.3896C>A (p.Thr1299Lys) c.3698C>A (p.Thr1233Lys) c.2987C>A (p.Thr996Lys) | |
| X | g.153954504T>A | CA415118824 | HCFC1 | c.3895A>T (p.Thr1299Ser) c.3697A>T (p.Thr1233Ser) c.2986A>T (p.Thr996Ser) | |
| X | g.153954504T>C | CA415118825 | HCFC1 | c.3895A>G (p.Thr1299Ala) c.3697A>G (p.Thr1233Ala) c.2986A>G (p.Thr996Ala) | |
| X | g.153954504T>G | CA415118828 | HCFC1 | c.3895A>C (p.Thr1299Pro) c.3697A>C (p.Thr1233Pro) c.2986A>C (p.Thr996Pro) | |
| X | g.153954505C>A | CA415118830 | HCFC1 | c.3894G>T (p.Glu1298Asp) c.3696G>T (p.Glu1232Asp) c.2985G>T (p.Glu995Asp) | |
| X | g.153954505C>G | CA415118831 | HCFC1 | c.3894G>C (p.Glu1298Asp) c.3696G>C (p.Glu1232Asp) c.2985G>C (p.Glu995Asp) | |
| X | g.153954505C>T | CA519702650 | HCFC1 | c.3894G>A (p.Glu1298=) c.3696G>A (p.Glu1232=) c.2985G>A (p.Glu995=) | |
| X | g.153954506T>A | CA415118835 | HCFC1 | c.3893A>T (p.Glu1298Val) c.3695A>T (p.Glu1232Val) c.2984A>T (p.Glu995Val) | |
| X | g.153954506T>C | CA415118839 | HCFC1 | c.3893A>G (p.Glu1298Gly) c.3695A>G (p.Glu1232Gly) c.2984A>G (p.Glu995Gly) | |
| X | g.153954506T>G | CA415118837 | HCFC1 | c.3893A>C (p.Glu1298Ala) c.3695A>C (p.Glu1232Ala) c.2984A>C (p.Glu995Ala) | |
| X | g.153954507C>A | CA415118842 | HCFC1 | c.3892G>T (p.Glu1298Ter) c.3694G>T (p.Glu1232Ter) c.2983G>T (p.Glu995Ter) | |
| X | g.153954507C= | CA2466540159 | HCFC1 | c.3892G= (p.Glu1298=) c.3694G= (p.Glu1232=) c.2983G= (p.Glu995=) | |
| X | g.153954507C>G | CA415118845 | HCFC1 | c.3892G>C (p.Glu1298Gln) c.3694G>C (p.Glu1232Gln) c.2983G>C (p.Glu995Gln) | |
| X | g.153954507C>T | CA10557117 | HCFC1 | c.3892G>A (p.Glu1298Lys) c.3694G>A (p.Glu1232Lys) c.2983G>A (p.Glu995Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.153954508G>A | CA10557118 | HCFC1 | c.3891C>T (p.His1297=) c.3693C>T (p.His1231=) c.2982C>T (p.His994=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.153954508G>C | CA415118850 | HCFC1 | c.3891C>G (p.His1297Gln) c.3693C>G (p.His1231Gln) c.2982C>G (p.His994Gln) | |
| X | g.153954508G= | CA2466540160 | HCFC1 | c.3891C= (p.His1297=) c.3693C= (p.His1231=) c.2982C= (p.His994=) | |
| X | g.153954508G>T | CA415118852 | HCFC1 | c.3891C>A (p.His1297Gln) c.3693C>A (p.His1231Gln) c.2982C>A (p.His994Gln) | |
| X | g.153954509T>A | CA415118858 | HCFC1 | c.3890A>T (p.His1297Leu) c.3692A>T (p.His1231Leu) c.2981A>T (p.His994Leu) | |
| X | g.153954509T>C | CA415118860 | HCFC1 | c.3890A>G (p.His1297Arg) c.3692A>G (p.His1231Arg) c.2981A>G (p.His994Arg) | |
| X | g.153954509T>G | CA415118862 | HCFC1 | c.3890A>C (p.His1297Pro) c.3692A>C (p.His1231Pro) c.2981A>C (p.His994Pro) | |
| X | g.153954510G>A | CA415118867 | HCFC1 | c.3889C>T (p.His1297Tyr) c.3691C>T (p.His1231Tyr) c.2980C>T (p.His994Tyr) | |
| X | g.153954510G>C | CA415118868 | HCFC1 | c.3889C>G (p.His1297Asp) c.3691C>G (p.His1231Asp) c.2980C>G (p.His994Asp) | |
| X | g.153954510G>T | CA415118865 | HCFC1 | c.3889C>A (p.His1297Asn) c.3691C>A (p.His1231Asn) c.2980C>A (p.His994Asn) | |
| X | g.153954511G>A | CA519701981 | HCFC1 | c.3888C>T (p.Thr1296=) c.3690C>T (p.Thr1230=) c.2979C>T (p.Thr993=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.153954511G>C | CA519701982 | HCFC1 | c.3888C>G (p.Thr1296=) c.3690C>G (p.Thr1230=) c.2979C>G (p.Thr993=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153954511G= | CA2466540161 | HCFC1 | c.3888C= (p.Thr1296=) c.3690C= (p.Thr1230=) c.2979C= (p.Thr993=) | |
| X | g.153954511G>T | CA519701983 | HCFC1 | c.3888C>A (p.Thr1296=) c.3690C>A (p.Thr1230=) c.2979C>A (p.Thr993=) | |
| X | g.153954512G>A | CA415118869 | HCFC1 | c.3887C>T (p.Thr1296Ile) c.3689C>T (p.Thr1230Ile) c.2978C>T (p.Thr993Ile) | |
| X | g.153954512G>C | CA415118872 | HCFC1 | c.3887C>G (p.Thr1296Ser) c.3689C>G (p.Thr1230Ser) c.2978C>G (p.Thr993Ser) | |
| X | g.153954512G>T | CA415118875 | HCFC1 | c.3887C>A (p.Thr1296Asn) c.3689C>A (p.Thr1230Asn) c.2978C>A (p.Thr993Asn) | |
| X | g.153954513T>A | CA415118878 | HCFC1 | c.3886A>T (p.Thr1296Ser) c.3688A>T (p.Thr1230Ser) c.2977A>T (p.Thr993Ser) | dbSNP |
| X | g.153954513T>C | CA415118880 | HCFC1 | c.3886A>G (p.Thr1296Ala) c.3688A>G (p.Thr1230Ala) c.2977A>G (p.Thr993Ala) | |
| X | g.153954513T>G | CA415118882 | HCFC1 | c.3886A>C (p.Thr1296Pro) c.3688A>C (p.Thr1230Pro) c.2977A>C (p.Thr993Pro) | |
| X | g.153954513T= | CA2466540162 | HCFC1 | c.3886A= (p.Thr1296=) c.3688A= (p.Thr1230=) c.2977A= (p.Thr993=) | |
| X | g.153954514C>A | CA415118885 | HCFC1 | c.3885G>T (p.Glu1295Asp) c.3687G>T (p.Glu1229Asp) c.2976G>T (p.Glu992Asp) | |
| X | g.153954514C>G | CA415118887 | HCFC1 | c.3885G>C (p.Glu1295Asp) c.3687G>C (p.Glu1229Asp) c.2976G>C (p.Glu992Asp) | |
| X | g.153954514C>T | CA519701990 | HCFC1 | c.3885G>A (p.Glu1295=) c.3687G>A (p.Glu1229=) c.2976G>A (p.Glu992=) | |
| X | g.153954515T>A | CA415118889 | HCFC1 | c.3884A>T (p.Glu1295Val) c.3686A>T (p.Glu1229Val) c.2975A>T (p.Glu992Val) | |
| X | g.153954515T>C | CA415118893 | HCFC1 | c.3884A>G (p.Glu1295Gly) c.3686A>G (p.Glu1229Gly) c.2975A>G (p.Glu992Gly) | |
| X | g.153954515T>G | CA415118895 | HCFC1 | c.3884A>C (p.Glu1295Ala) c.3686A>C (p.Glu1229Ala) c.2975A>C (p.Glu992Ala) | |
| X | g.153954516C>A | CA415118902 | HCFC1 | c.3883G>T (p.Glu1295Ter) c.3685G>T (p.Glu1229Ter) c.2974G>T (p.Glu992Ter) | |
| X | g.153954516C>G | CA415118899 | HCFC1 | c.3883G>C (p.Glu1295Gln) c.3685G>C (p.Glu1229Gln) c.2974G>C (p.Glu992Gln) | |
| X | g.153954516C>T | CA415118897 | HCFC1 | c.3883G>A (p.Glu1295Lys) c.3685G>A (p.Glu1229Lys) c.2974G>A (p.Glu992Lys) | |
| X | g.153954517A= | CA2466540163 | HCFC1 | c.3882T= (p.Cys1294=) c.3684T= (p.Cys1228=) c.2973T= (p.Cys991=) | |
| X | g.153954517A>C | CA415118904 | HCFC1 | c.3882T>G (p.Cys1294Trp) c.3684T>G (p.Cys1228Trp) c.2973T>G (p.Cys991Trp) | |
| X | g.153954517A>G | CA519701993 | HCFC1 | c.3882T>C (p.Cys1294=) c.3684T>C (p.Cys1228=) c.2973T>C (p.Cys991=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153954517A>T | CA415118905 | HCFC1 | c.3882T>A (p.Cys1294Ter) c.3684T>A (p.Cys1228Ter) c.2973T>A (p.Cys991Ter) | |
| X | g.153954518C>A | CA415118908 | HCFC1 | c.3881G>T (p.Cys1294Phe) c.3683G>T (p.Cys1228Phe) c.2972G>T (p.Cys991Phe) | |
| X | g.153954518C= | CA2466540164 | HCFC1 | c.3881G= (p.Cys1294=) c.3683G= (p.Cys1228=) c.2972G= (p.Cys991=) | |
| X | g.153954518C>G | CA415118911 | HCFC1 | c.3881G>C (p.Cys1294Ser) c.3683G>C (p.Cys1228Ser) c.2972G>C (p.Cys991Ser) | |
| X | g.153954518C>T | CA415118912 | HCFC1 | c.3881G>A (p.Cys1294Tyr) c.3683G>A (p.Cys1228Tyr) c.2972G>A (p.Cys991Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153954519A>C | CA415118915 | HCFC1 | c.3880T>G (p.Cys1294Gly) c.3682T>G (p.Cys1228Gly) c.2971T>G (p.Cys991Gly) | |
| X | g.153954519A>G | CA415118917 | HCFC1 | c.3880T>C (p.Cys1294Arg) c.3682T>C (p.Cys1228Arg) c.2971T>C (p.Cys991Arg) | ClinVar dbSNP gnomAD v4 |
| X | g.153954519A>T | CA415118919 | HCFC1 | c.3880T>A (p.Cys1294Ser) c.3682T>A (p.Cys1228Ser) c.2971T>A (p.Cys991Ser) | |
| X | g.153954520T>A | CA519701999 | HCFC1 | c.3879A>T (p.Pro1293=) c.3681A>T (p.Pro1227=) c.2970A>T (p.Pro990=) | |
| X | g.153954520T>C | CA337252551 | HCFC1 | c.3879A>G (p.Pro1293=) c.3681A>G (p.Pro1227=) c.2970A>G (p.Pro990=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.153954520T>G | CA519702001 | HCFC1 | c.3879A>C (p.Pro1293=) c.3681A>C (p.Pro1227=) c.2970A>C (p.Pro990=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153954520T= | CA2466540165 | HCFC1 | c.3879A= (p.Pro1293=) c.3681A= (p.Pro1227=) c.2970A= (p.Pro990=) | |
| X | g.153954521G>A | CA415118924 | HCFC1 | c.3878C>T (p.Pro1293Leu) c.3680C>T (p.Pro1227Leu) c.2969C>T (p.Pro990Leu) | |
| X | g.153954521G>C | CA415118927 | HCFC1 | c.3878C>G (p.Pro1293Arg) c.3680C>G (p.Pro1227Arg) c.2969C>G (p.Pro990Arg) | |
| X | g.153954521G>T | CA415118928 | HCFC1 | c.3878C>A (p.Pro1293Gln) c.3680C>A (p.Pro1227Gln) c.2969C>A (p.Pro990Gln) | |
| X | g.153954522G>A | CA415118936 | HCFC1 | c.3877C>T (p.Pro1293Ser) c.3679C>T (p.Pro1227Ser) c.2968C>T (p.Pro990Ser) | |
| X | g.153954522G>C | CA415118934 | HCFC1 | c.3877C>G (p.Pro1293Ala) c.3679C>G (p.Pro1227Ala) c.2968C>G (p.Pro990Ala) | |
| X | g.153954522G>T | CA415118931 | HCFC1 | c.3877C>A (p.Pro1293Thr) c.3679C>A (p.Pro1227Thr) c.2968C>A (p.Pro990Thr) | |
| X | g.153954523del | CA2579735259 | HCFC1 | c.3876del (p.Pro1293HisfsTer?) c.3678del (p.Pro1227HisfsTer?) c.2967del (p.Pro990HisfsTer?) | |
| X | g.153954523T>A | CA519702009 | HCFC1 | c.3876A>T (p.Pro1292=) c.3678A>T (p.Pro1226=) c.2967A>T (p.Pro989=) | |
| X | g.153954523T>C | CA519702008 | HCFC1 | c.3876A>G (p.Pro1292=) c.3678A>G (p.Pro1226=) c.2967A>G (p.Pro989=) | |
| X | g.153954523T>G | CA519702007 | HCFC1 | c.3876A>C (p.Pro1292=) c.3678A>C (p.Pro1226=) c.2967A>C (p.Pro989=) | |
| X | g.153954524G>A | CA415118940 | HCFC1 | c.3875C>T (p.Pro1292Leu) c.3677C>T (p.Pro1226Leu) c.2966C>T (p.Pro989Leu) | |
| X | g.153954524G>C | CA415118944 | HCFC1 | c.3875C>G (p.Pro1292Arg) c.3677C>G (p.Pro1226Arg) c.2966C>G (p.Pro989Arg) | |
| X | g.153954524G>T | CA415118942 | HCFC1 | c.3875C>A (p.Pro1292Gln) c.3677C>A (p.Pro1226Gln) c.2966C>A (p.Pro989Gln) | COSMIC COSMIC |
| X | g.153954525G>A | CA415118947 | HCFC1 | c.3874C>T (p.Pro1292Ser) c.3676C>T (p.Pro1226Ser) c.2965C>T (p.Pro989Ser) | |
| X | g.153954525G>C | CA415118949 | HCFC1 | c.3874C>G (p.Pro1292Ala) c.3676C>G (p.Pro1226Ala) c.2965C>G (p.Pro989Ala) | |
| X | g.153954525G>T | CA415118951 | HCFC1 | c.3874C>A (p.Pro1292Thr) c.3676C>A (p.Pro1226Thr) c.2965C>A (p.Pro989Thr) | |
| X | g.153954526G>A | CA519702014 | HCFC1 | c.3873C>T (p.Asn1291=) c.3675C>T (p.Asn1225=) c.2964C>T (p.Asn988=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153954526G>C | CA415118954 | HCFC1 | c.3873C>G (p.Asn1291Lys) c.3675C>G (p.Asn1225Lys) c.2964C>G (p.Asn988Lys) | |
| X | g.153954526G= | CA2466540166 | HCFC1 | c.3873C= (p.Asn1291=) c.3675C= (p.Asn1225=) c.2964C= (p.Asn988=) | |
| X | g.153954526G>T | CA10557119 | HCFC1 | c.3873C>A (p.Asn1291Lys) c.3675C>A (p.Asn1225Lys) c.2964C>A (p.Asn988Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153954527T>A | CA415118956 | HCFC1 | c.3872A>T (p.Asn1291Ile) c.3674A>T (p.Asn1225Ile) c.2963A>T (p.Asn988Ile) | |
| X | g.153954527T>C | CA415118959 | HCFC1 | c.3872A>G (p.Asn1291Ser) c.3674A>G (p.Asn1225Ser) c.2963A>G (p.Asn988Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153954527T>G | CA415118962 | HCFC1 | c.3872A>C (p.Asn1291Thr) c.3674A>C (p.Asn1225Thr) c.2963A>C (p.Asn988Thr) | |
| X | g.153954527T= | CA2466540167 | HCFC1 | c.3872A= (p.Asn1291=) c.3674A= (p.Asn1225=) c.2963A= (p.Asn988=) | |
| X | g.153954528T>A | CA415118963 | HCFC1 | c.3871A>T (p.Asn1291Tyr) c.3673A>T (p.Asn1225Tyr) c.2962A>T (p.Asn988Tyr) | |
| X | g.153954528T>C | CA415118964 | HCFC1 | c.3871A>G (p.Asn1291Asp) c.3673A>G (p.Asn1225Asp) c.2962A>G (p.Asn988Asp) | |
| X | g.153954528T>G | CA415118967 | HCFC1 | c.3871A>C (p.Asn1291His) c.3673A>C (p.Asn1225His) c.2962A>C (p.Asn988His) | |
| X | g.153954529G>A | CA519702019 | HCFC1 | c.3870C>T (p.Ser1290=) c.3672C>T (p.Ser1224=) c.2961C>T (p.Ser987=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153954529G>C | CA519702020 | HCFC1 | c.3870C>G (p.Ser1290=) c.3672C>G (p.Ser1224=) c.2961C>G (p.Ser987=) | |
| X | g.153954529G= | CA2466540168 | HCFC1 | c.3870C= (p.Ser1290=) c.3672C= (p.Ser1224=) c.2961C= (p.Ser987=) | |
| X | g.153954529G>T | CA519702021 | HCFC1 | c.3870C>A (p.Ser1290=) c.3672C>A (p.Ser1224=) c.2961C>A (p.Ser987=) | gnomAD v3 gnomAD v4 |
| X | g.153954530G>A | CA10557120 | HCFC1 | c.3869C>T (p.Ser1290Phe) c.3671C>T (p.Ser1224Phe) c.2960C>T (p.Ser987Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153954530G>C | CA415118971 | HCFC1 | c.3869C>G (p.Ser1290Cys) c.3671C>G (p.Ser1224Cys) c.2960C>G (p.Ser987Cys) | gnomAD v4 |
| X | g.153954530G= | CA2466540169 | HCFC1 | c.3869C= (p.Ser1290=) c.3671C= (p.Ser1224=) c.2960C= (p.Ser987=) | |
| X | g.153954530G>T | CA415118970 | HCFC1 | c.3869C>A (p.Ser1290Tyr) c.3671C>A (p.Ser1224Tyr) c.2960C>A (p.Ser987Tyr) | COSMIC COSMIC |
| X | g.153954531A= | CA2466540170 | HCFC1 | c.3868T= (p.Ser1290=) c.3670T= (p.Ser1224=) c.2959T= (p.Ser987=) | |
| X | g.153954531A>C | CA415118973 | HCFC1 | c.3868T>G (p.Ser1290Ala) c.3670T>G (p.Ser1224Ala) c.2959T>G (p.Ser987Ala) | dbSNP gnomAD v2 |
| X | g.153954531A>G | CA10557121 | HCFC1 | c.3868T>C (p.Ser1290Pro) c.3670T>C (p.Ser1224Pro) c.2959T>C (p.Ser987Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153954531A>T | CA415118975 | HCFC1 | c.3868T>A (p.Ser1290Thr) c.3670T>A (p.Ser1224Thr) c.2959T>A (p.Ser987Thr) | |
| X | g.153954532G>A | CA415118977 | HCFC1 | c.3867C>T (p.Cys1289=) c.3669C>T (p.Cys1223=) c.2958C>T (p.Cys986=) | dbSNP gnomAD v4 |
| X | g.153954532G>C | CA10557122 | HCFC1 | c.3867C>G (p.Cys1289Trp) c.3669C>G (p.Cys1223Trp) c.2958C>G (p.Cys986Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153954532G= | CA2466540171 | HCFC1 | c.3867C= (p.Cys1289=) c.3669C= (p.Cys1223=) c.2958C= (p.Cys986=) | |
| X | g.153954532G>T | CA415118980 | HCFC1 | c.3867C>A (p.Cys1289Ter) c.3669C>A (p.Cys1223Ter) c.2958C>A (p.Cys986Ter) | |
| X | g.153954533C>A | CA415118983 | HCFC1 | c.3866G>T (p.Cys1289Phe) c.3668G>T (p.Cys1223Phe) c.2957G>T (p.Cys986Phe) | |
| X | g.153954533C>G | CA415118986 | HCFC1 | c.3866G>C (p.Cys1289Ser) c.3668G>C (p.Cys1223Ser) c.2957G>C (p.Cys986Ser) | |
| X | g.153954533C>T | CA415118987 | HCFC1 | c.3866G>A (p.Cys1289Tyr) c.3668G>A (p.Cys1223Tyr) c.2957G>A (p.Cys986Tyr) | ClinVar dbSNP |
| X | g.153954534A>C | CA415118989 | HCFC1 | c.3865T>G (p.Cys1289Gly) c.3667T>G (p.Cys1223Gly) c.2956T>G (p.Cys986Gly) | |
| X | g.153954534A>G | CA415118994 | HCFC1 | c.3865T>C (p.Cys1289Arg) c.3667T>C (p.Cys1223Arg) c.2956T>C (p.Cys986Arg) | |
| X | g.153954534A>T | CA415118996 | HCFC1 | c.3865T>A (p.Cys1289Ser) c.3667T>A (p.Cys1223Ser) c.2956T>A (p.Cys986Ser) | gnomAD v4 |
| X | g.153954535G>A | CA10557123 | HCFC1 | c.3864C>T (p.Val1288=) c.3666C>T (p.Val1222=) c.2955C>T (p.Val985=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153954535G>C | CA519702031 | HCFC1 | c.3864C>G (p.Val1288=) c.3666C>G (p.Val1222=) c.2955C>G (p.Val985=) | gnomAD v4 |
| X | g.153954535G= | CA2466540172 | HCFC1 | c.3864C= (p.Val1288=) c.3666C= (p.Val1222=) c.2955C= (p.Val985=) | |
| X | g.153954535G>T | CA519702032 | HCFC1 | c.3864C>A (p.Val1288=) c.3666C>A (p.Val1222=) c.2955C>A (p.Val985=) | |
| X | g.153954536A>C | CA415119002 | HCFC1 | c.3863T>G (p.Val1288Gly) c.3665T>G (p.Val1222Gly) c.2954T>G (p.Val985Gly) | |
| X | g.153954536A>G | CA415118999 | HCFC1 | c.3863T>C (p.Val1288Ala) c.3665T>C (p.Val1222Ala) c.2954T>C (p.Val985Ala) | |
| X | g.153954536A>T | CA415119001 | HCFC1 | c.3863T>A (p.Val1288Asp) c.3665T>A (p.Val1222Asp) c.2954T>A (p.Val985Asp) | |
| X | g.153954537C>A | CA415119006 | HCFC1 | c.3862G>T (p.Val1288Phe) c.3664G>T (p.Val1222Phe) c.2953G>T (p.Val985Phe) | |
| X | g.153954537C= | CA2466540173 | HCFC1 | c.3862G= (p.Val1288=) c.3664G= (p.Val1222=) c.2953G= (p.Val985=) | |
| X | g.153954537C>G | CA415119008 | HCFC1 | c.3862G>C (p.Val1288Leu) c.3664G>C (p.Val1222Leu) c.2953G>C (p.Val985Leu) | dbSNP gnomAD v4 |
| X | g.153954537C>T | CA415119010 | HCFC1 | c.3862G>A (p.Val1288Ile) c.3664G>A (p.Val1222Ile) c.2953G>A (p.Val985Ile) | |
| X | g.153954538T>A | CA415119012 | HCFC1 | c.3861A>T (p.Gln1287His) c.3663A>T (p.Gln1221His) c.2952A>T (p.Gln984His) | dbSNP gnomAD v4 |
| X | g.153954538T>C | CA519702035 | HCFC1 | c.3861A>G (p.Gln1287=) c.3663A>G (p.Gln1221=) c.2952A>G (p.Gln984=) | |
| X | g.153954538T>G | CA415119013 | HCFC1 | c.3861A>C (p.Gln1287His) c.3663A>C (p.Gln1221His) c.2952A>C (p.Gln984His) | |
| X | g.153954538T= | CA2466540174 | HCFC1 | c.3861A= (p.Gln1287=) c.3663A= (p.Gln1221=) c.2952A= (p.Gln984=) | |
| X | g.153954539T>A | CA415119016 | HCFC1 | c.3860A>T (p.Gln1287Leu) c.3662A>T (p.Gln1221Leu) c.2951A>T (p.Gln984Leu) | |
| X | g.153954539T>C | CA337252586 | HCFC1 | c.3860A>G (p.Gln1287Arg) c.3662A>G (p.Gln1221Arg) c.2951A>G (p.Gln984Arg) | dbSNP gnomAD v4 |
| X | g.153954539T>G | CA415119021 | HCFC1 | c.3860A>C (p.Gln1287Pro) c.3662A>C (p.Gln1221Pro) c.2951A>C (p.Gln984Pro) | |
| X | g.153954539T= | CA2466540175 | HCFC1 | c.3860A= (p.Gln1287=) c.3662A= (p.Gln1221=) c.2951A= (p.Gln984=) | |
| X | g.153954540G>A | CA415119024 | HCFC1 | c.3859C>T (p.Gln1287Ter) c.3661C>T (p.Gln1221Ter) c.2950C>T (p.Gln984Ter) | |
| X | g.153954540G>C | CA415119026 | HCFC1 | c.3859C>G (p.Gln1287Glu) c.3661C>G (p.Gln1221Glu) c.2950C>G (p.Gln984Glu) | |
| X | g.153954540G>T | CA415119029 | HCFC1 | c.3859C>A (p.Gln1287Lys) c.3661C>A (p.Gln1221Lys) c.2950C>A (p.Gln984Lys) | |
| X | g.153954540_153954546delinsGGGTCAC | CA2466540176 | HCFC1 | c.3853_3859delinsGTGACCC (p.Val1285=) c.3655_3661delinsGTGACCC (p.Val1219=) c.2944_2950delinsGTGACCC (p.Val982=) | |
| X | g.153954541G>A | CA519702039 | HCFC1 | c.3858C>T (p.Thr1286=) c.3660C>T (p.Thr1220=) c.2949C>T (p.Thr983=) | ClinVar dbSNP |
| X | g.153954541G>C | CA519702040 | HCFC1 | c.3858C>G (p.Thr1286=) c.3660C>G (p.Thr1220=) c.2949C>G (p.Thr983=) | gnomAD v4 |
| X | g.153954541G= | CA2466540178 | HCFC1 | c.3858C= (p.Thr1286=) c.3660C= (p.Thr1220=) c.2949C= (p.Thr983=) | |
| X | g.153954541G>T | CA519702041 | HCFC1 | c.3858C>A (p.Thr1286=) c.3660C>A (p.Thr1220=) c.2949C>A (p.Thr983=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153954544_153954549del | CA2466540177 | HCFC1 | c.3853_3858del (p.Val1285_Thr1286del) c.3655_3660del (p.Val1219_Thr1220del) c.2944_2949del (p.Val982_Thr983del) | dbSNP |
| X | g.153954542G>A | CA415119032 | HCFC1 | c.3857C>T (p.Thr1286Ile) c.3659C>T (p.Thr1220Ile) c.2948C>T (p.Thr983Ile) | gnomAD v4 |
| X | g.153954542G>C | CA415119036 | HCFC1 | c.3857C>G (p.Thr1286Ser) c.3659C>G (p.Thr1220Ser) c.2948C>G (p.Thr983Ser) | |
| X | g.153954542G>T | CA415119034 | HCFC1 | c.3857C>A (p.Thr1286Asn) c.3659C>A (p.Thr1220Asn) c.2948C>A (p.Thr983Asn) | |
| X | g.153954543T>A | CA415119039 | HCFC1 | c.3856A>T (p.Thr1286Ser) c.3658A>T (p.Thr1220Ser) c.2947A>T (p.Thr983Ser) | |
| X | g.153954543T>C | CA415119040 | HCFC1 | c.3856A>G (p.Thr1286Ala) c.3658A>G (p.Thr1220Ala) c.2947A>G (p.Thr983Ala) | |
| X | g.153954543T>G | CA415119043 | HCFC1 | c.3856A>C (p.Thr1286Pro) c.3658A>C (p.Thr1220Pro) c.2947A>C (p.Thr983Pro) | |
| X | g.153954543_153954546delinsTCAC | CA2466540179 | HCFC1 | c.3853_3856delinsGTGA (p.Val1285=) c.3655_3658delinsGTGA (p.Val1219=) c.2944_2947delinsGTGA (p.Val982=) | |
| X | g.153954544C>A | CA519702050 | HCFC1 | c.3855G>T (p.Val1285=) c.3657G>T (p.Val1219=) c.2946G>T (p.Val982=) | gnomAD v4 |
| X | g.153954544C>G | CA519702049 | HCFC1 | c.3855G>C (p.Val1285=) c.3657G>C (p.Val1219=) c.2946G>C (p.Val982=) | |
| X | g.153954544C>T | CA519702047 | HCFC1 | c.3855G>A (p.Val1285=) c.3657G>A (p.Val1219=) c.2946G>A (p.Val982=) | |
| X | g.153954544_153954546del | CA645289622 | HCFC1 | c.3853_3855del (p.Val1285del) c.3655_3657del (p.Val1219del) c.2944_2946del (p.Val982del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153954545A>C | CA415119046 | HCFC1 | c.3854T>G (p.Val1285Gly) c.3656T>G (p.Val1219Gly) c.2945T>G (p.Val982Gly) | |
| X | g.153954545A>G | CA415119047 | HCFC1 | c.3854T>C (p.Val1285Ala) c.3656T>C (p.Val1219Ala) c.2945T>C (p.Val982Ala) | |
| X | g.153954545A>T | CA415119050 | HCFC1 | c.3854T>A (p.Val1285Glu) c.3656T>A (p.Val1219Glu) c.2945T>A (p.Val982Glu) | |
| X | g.153954546C>A | CA415119053 | HCFC1 | c.3853G>T (p.Val1285Leu) c.3655G>T (p.Val1219Leu) c.2944G>T (p.Val982Leu) | |
| X | g.153954546C= | CA2466540180 | HCFC1 | c.3853G= (p.Val1285=) c.3655G= (p.Val1219=) c.2944G= (p.Val982=) | |
| X | g.153954546C>G | CA415119055 | HCFC1 | c.3853G>C (p.Val1285Leu) c.3655G>C (p.Val1219Leu) c.2944G>C (p.Val982Leu) | |
| X | g.153954546C>T | CA10557124 | HCFC1 | c.3853G>A (p.Val1285Met) c.3655G>A (p.Val1219Met) c.2944G>A (p.Val982Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.153954547G>A | CA10557125 | HCFC1 | c.3852C>T (p.Thr1284=) c.3654C>T (p.Thr1218=) c.2943C>T (p.Thr981=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.153954547G>C | CA519702055 | HCFC1 | c.3852C>G (p.Thr1284=) c.3654C>G (p.Thr1218=) c.2943C>G (p.Thr981=) | |
| X | g.153954547G= | CA2466540181 | HCFC1 | c.3852C= (p.Thr1284=) c.3654C= (p.Thr1218=) c.2943C= (p.Thr981=) | |
| X | g.153954547G>T | CA519702056 | HCFC1 | c.3852C>A (p.Thr1284=) c.3654C>A (p.Thr1218=) c.2943C>A (p.Thr981=) | |
| X | g.153954548G>A | CA415119061 | HCFC1 | c.3851C>T (p.Thr1284Ile) c.3653C>T (p.Thr1218Ile) c.2942C>T (p.Thr981Ile) | gnomAD v4 |
| X | g.153954548G>C | CA415119065 | HCFC1 | c.3851C>G (p.Thr1284Ser) c.3653C>G (p.Thr1218Ser) c.2942C>G (p.Thr981Ser) | |
| X | g.153954548G>T | CA415119063 | HCFC1 | c.3851C>A (p.Thr1284Asn) c.3653C>A (p.Thr1218Asn) c.2942C>A (p.Thr981Asn) | |
| X | g.153954548_153954555delinsGTGGCCGA | CA2466540182 | HCFC1 | c.3844_3851delinsTCGGCCAC (p.Ser1282=) c.3646_3653delinsTCGGCCAC (p.Ser1216=) c.2935_2942delinsTCGGCCAC (p.Ser979=) | |
| X | g.153954549T>A | CA415119067 | HCFC1 | c.3850A>T (p.Thr1284Ser) c.3652A>T (p.Thr1218Ser) c.2941A>T (p.Thr981Ser) | |
| X | g.153954549T>C | CA415119070 | HCFC1 | c.3850A>G (p.Thr1284Ala) c.3652A>G (p.Thr1218Ala) c.2941A>G (p.Thr981Ala) | |
| X | g.153954549T>G | CA415119071 | HCFC1 | c.3850A>C (p.Thr1284Pro) c.3652A>C (p.Thr1218Pro) c.2941A>C (p.Thr981Pro) | |
| X | g.153954549_153954555del | CA645289623 | HCFC1 | c.3844_3850del (p.Ser1282ProfsTer2) c.3646_3652del (p.Ser1216ProfsTer2) c.2935_2941del (p.Ser979ProfsTer2) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |