Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.153954652A>CCA519702366HCFC1c.3747T>G (p.Ala1249=)
c.3549T>G (p.Ala1183=)
c.2838T>G (p.Ala946=)
Xg.153954652A>GCA519702368HCFC1c.3747T>C (p.Ala1249=)
c.3549T>C (p.Ala1183=)
c.2838T>C (p.Ala946=)
Xg.153954652A>TCA519702369HCFC1c.3747T>A (p.Ala1249=)
c.3549T>A (p.Ala1183=)
c.2838T>A (p.Ala946=)
Xg.153954653G>ACA415119594HCFC1c.3746C>T (p.Ala1249Val)
c.3548C>T (p.Ala1183Val)
c.2837C>T (p.Ala946Val)
Xg.153954653G>CCA415119597HCFC1c.3746C>G (p.Ala1249Gly)
c.3548C>G (p.Ala1183Gly)
c.2837C>G (p.Ala946Gly)
Xg.153954653G>TCA415119599HCFC1c.3746C>A (p.Ala1249Asp)
c.3548C>A (p.Ala1183Asp)
c.2837C>A (p.Ala946Asp)
Xg.153954654C>ACA415119601HCFC1c.3745G>T (p.Ala1249Ser)
c.3547G>T (p.Ala1183Ser)
c.2836G>T (p.Ala946Ser)
Xg.153954654C>GCA415119604HCFC1c.3745G>C (p.Ala1249Pro)
c.3547G>C (p.Ala1183Pro)
c.2836G>C (p.Ala946Pro)
Xg.153954654C>TCA415119607HCFC1c.3745G>A (p.Ala1249Thr)
c.3547G>A (p.Ala1183Thr)
c.2836G>A (p.Ala946Thr)
 gnomAD v4
Xg.153954655A>CCA519702378HCFC1c.3744T>G (p.Gly1248=)
c.3546T>G (p.Gly1182=)
c.2835T>G (p.Gly945=)
Xg.153954655A>GCA519702380HCFC1c.3744T>C (p.Gly1248=)
c.3546T>C (p.Gly1182=)
c.2835T>C (p.Gly945=)
Xg.153954655A>TCA519702381HCFC1c.3744T>A (p.Gly1248=)
c.3546T>A (p.Gly1182=)
c.2835T>A (p.Gly945=)
 ClinVar
Xg.153954656C>ACA415119608HCFC1c.3743G>T (p.Gly1248Val)
c.3545G>T (p.Gly1182Val)
c.2834G>T (p.Gly945Val)
Xg.153954656C=CA2466540221HCFC1c.3743G= (p.Gly1248=)
c.3545G= (p.Gly1182=)
c.2834G= (p.Gly945=)
Xg.153954656C>GCA415119610HCFC1c.3743G>C (p.Gly1248Ala)
c.3545G>C (p.Gly1182Ala)
c.2834G>C (p.Gly945Ala)
Xg.153954656C>TCA415119613HCFC1c.3743G>A (p.Gly1248Asp)
c.3545G>A (p.Gly1182Asp)
c.2834G>A (p.Gly945Asp)
 dbSNP
Xg.153954657C>ACA415119621HCFC1c.3742G>T (p.Gly1248Cys)
c.3544G>T (p.Gly1182Cys)
c.2833G>T (p.Gly945Cys)
 gnomAD v4 COSMIC COSMIC
Xg.153954657C>GCA415119618HCFC1c.3742G>C (p.Gly1248Arg)
c.3544G>C (p.Gly1182Arg)
c.2833G>C (p.Gly945Arg)
Xg.153954657C>TCA415119616HCFC1c.3742G>A (p.Gly1248Ser)
c.3544G>A (p.Gly1182Ser)
c.2833G>A (p.Gly945Ser)
Xg.153954658C>ACA519702394HCFC1c.3741G>T (p.Val1247=)
c.3543G>T (p.Val1181=)
c.2832G>T (p.Val944=)
Xg.153954658C>GCA519702390HCFC1c.3741G>C (p.Val1247=)
c.3543G>C (p.Val1181=)
c.2832G>C (p.Val944=)
Xg.153954658C>TCA519702388HCFC1c.3741G>A (p.Val1247=)
c.3543G>A (p.Val1181=)
c.2832G>A (p.Val944=)
Xg.153954659A>CCA415119624HCFC1c.3740T>G (p.Val1247Gly)
c.3542T>G (p.Val1181Gly)
c.2831T>G (p.Val944Gly)
Xg.153954659A>GCA415119628HCFC1c.3740T>C (p.Val1247Ala)
c.3542T>C (p.Val1181Ala)
c.2831T>C (p.Val944Ala)
Xg.153954659A>TCA415119627HCFC1c.3740T>A (p.Val1247Glu)
c.3542T>A (p.Val1181Glu)
c.2831T>A (p.Val944Glu)
Xg.153954660C>ACA415119632HCFC1c.3739G>T (p.Val1247Leu)
c.3541G>T (p.Val1181Leu)
c.2830G>T (p.Val944Leu)
Xg.153954660C=CA2466540222HCFC1c.3739G= (p.Val1247=)
c.3541G= (p.Val1181=)
c.2830G= (p.Val944=)
Xg.153954660C>GCA415119634HCFC1c.3739G>C (p.Val1247Leu)
c.3541G>C (p.Val1181Leu)
c.2830G>C (p.Val944Leu)
Xg.153954660C>TCA415119636HCFC1c.3739G>A (p.Val1247Met)
c.3541G>A (p.Val1181Met)
c.2830G>A (p.Val944Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954661G>ACA10557139HCFC1c.3738C>T (p.Ser1246=)
c.3540C>T (p.Ser1180=)
c.2829C>T (p.Ser943=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153954661G>CCA415119640HCFC1c.3738C>G (p.Ser1246Arg)
c.3540C>G (p.Ser1180Arg)
c.2829C>G (p.Ser943Arg)
Xg.153954661G=CA2466540223HCFC1c.3738C= (p.Ser1246=)
c.3540C= (p.Ser1180=)
c.2829C= (p.Ser943=)
Xg.153954661G>TCA415119643HCFC1c.3738C>A (p.Ser1246Arg)
c.3540C>A (p.Ser1180Arg)
c.2829C>A (p.Ser943Arg)
Xg.153954662C>ACA415119647HCFC1c.3737G>T (p.Ser1246Ile)
c.3539G>T (p.Ser1180Ile)
c.2828G>T (p.Ser943Ile)
Xg.153954662C=CA2466540224HCFC1c.3737G= (p.Ser1246=)
c.3539G= (p.Ser1180=)
c.2828G= (p.Ser943=)
Xg.153954662C>GCA415119649HCFC1c.3737G>C (p.Ser1246Thr)
c.3539G>C (p.Ser1180Thr)
c.2828G>C (p.Ser943Thr)
Xg.153954662C>TCA415119651HCFC1c.3737G>A (p.Ser1246Asn)
c.3539G>A (p.Ser1180Asn)
c.2828G>A (p.Ser943Asn)
 dbSNP gnomAD v2
Xg.153954663T>ACA415119655HCFC1c.3736A>T (p.Ser1246Cys)
c.3538A>T (p.Ser1180Cys)
c.2827A>T (p.Ser943Cys)
Xg.153954663T>CCA415119657HCFC1c.3736A>G (p.Ser1246Gly)
c.3538A>G (p.Ser1180Gly)
c.2827A>G (p.Ser943Gly)
 gnomAD v4
Xg.153954663T>GCA415119659HCFC1c.3736A>C (p.Ser1246Arg)
c.3538A>C (p.Ser1180Arg)
c.2827A>C (p.Ser943Arg)
Xg.153954664G>ACA519702406HCFC1c.3735C>T (p.Ser1245=)
c.3537C>T (p.Ser1179=)
c.2826C>T (p.Ser942=)
 dbSNP
Xg.153954664G>CCA519702409HCFC1c.3735C>G (p.Ser1245=)
c.3537C>G (p.Ser1179=)
c.2826C>G (p.Ser942=)
Xg.153954664G=CA2466540225HCFC1c.3735C= (p.Ser1245=)
c.3537C= (p.Ser1179=)
c.2826C= (p.Ser942=)
Xg.153954664G>TCA519702410HCFC1c.3735C>A (p.Ser1245=)
c.3537C>A (p.Ser1179=)
c.2826C>A (p.Ser942=)
Xg.153954665G>ACA10557141HCFC1c.3734C>T (p.Ser1245Phe)
c.3536C>T (p.Ser1179Phe)
c.2825C>T (p.Ser942Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954665G>CCA10557140HCFC1c.3734C>G (p.Ser1245Cys)
c.3536C>G (p.Ser1179Cys)
c.2825C>G (p.Ser942Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954665G=CA2466540226HCFC1c.3734C= (p.Ser1245=)
c.3536C= (p.Ser1179=)
c.2825C= (p.Ser942=)
Xg.153954665G>TCA415119664HCFC1c.3734C>A (p.Ser1245Tyr)
c.3536C>A (p.Ser1179Tyr)
c.2825C>A (p.Ser942Tyr)
 gnomAD v4
Xg.153954666A>CCA415119667HCFC1c.3733T>G (p.Ser1245Ala)
c.3535T>G (p.Ser1179Ala)
c.2824T>G (p.Ser942Ala)
Xg.153954666A>GCA415119670HCFC1c.3733T>C (p.Ser1245Pro)
c.3535T>C (p.Ser1179Pro)
c.2824T>C (p.Ser942Pro)
Xg.153954666A>TCA415119673HCFC1c.3733T>A (p.Ser1245Thr)
c.3535T>A (p.Ser1179Thr)
c.2824T>A (p.Ser942Thr)
Xg.153954667A>CCA519702413HCFC1c.3732T>G (p.Arg1244=)
c.3534T>G (p.Arg1178=)
c.2823T>G (p.Arg941=)
Xg.153954667A>GCA519702414HCFC1c.3732T>C (p.Arg1244=)
c.3534T>C (p.Arg1178=)
c.2823T>C (p.Arg941=)
 ClinVar
Xg.153954667A>TCA519702417HCFC1c.3732T>A (p.Arg1244=)
c.3534T>A (p.Arg1178=)
c.2823T>A (p.Arg941=)
Xg.153954668C>ACA415119674HCFC1c.3731G>T (p.Arg1244Leu)
c.3533G>T (p.Arg1178Leu)
c.2822G>T (p.Arg941Leu)
Xg.153954668C=CA2466540227HCFC1c.3731G= (p.Arg1244=)
c.3533G= (p.Arg1178=)
c.2822G= (p.Arg941=)
Xg.153954668C>GCA415119675HCFC1c.3731G>C (p.Arg1244Pro)
c.3533G>C (p.Arg1178Pro)
c.2822G>C (p.Arg941Pro)
 dbSNP gnomAD v2 gnomAD v4
Xg.153954668C>TCA10557142HCFC1c.3731G>A (p.Arg1244His)
c.3533G>A (p.Arg1178His)
c.2822G>A (p.Arg941His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954669G>ACA10557143HCFC1c.3730C>T (p.Arg1244Cys)
c.3532C>T (p.Arg1178Cys)
c.2821C>T (p.Arg941Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954669G>CCA415119677HCFC1c.3730C>G (p.Arg1244Gly)
c.3532C>G (p.Arg1178Gly)
c.2821C>G (p.Arg941Gly)
Xg.153954669G=CA2466540228HCFC1c.3730C= (p.Arg1244=)
c.3532C= (p.Arg1178=)
c.2821C= (p.Arg941=)
Xg.153954669G>TCA415119680HCFC1c.3730C>A (p.Arg1244Ser)
c.3532C>A (p.Arg1178Ser)
c.2821C>A (p.Arg941Ser)
Xg.153954670G>ACA519702424HCFC1c.3729C>T (p.Thr1243=)
c.3531C>T (p.Thr1177=)
c.2820C>T (p.Thr940=)
Xg.153954670G>CCA519702427HCFC1c.3729C>G (p.Thr1243=)
c.3531C>G (p.Thr1177=)
c.2820C>G (p.Thr940=)
 gnomAD v4
Xg.153954670G>TCA519702428HCFC1c.3729C>A (p.Thr1243=)
c.3531C>A (p.Thr1177=)
c.2820C>A (p.Thr940=)
 gnomAD v4
Xg.153954671G>ACA415119687HCFC1c.3728C>T (p.Thr1243Ile)
c.3530C>T (p.Thr1177Ile)
c.2819C>T (p.Thr940Ile)
Xg.153954671G>CCA415119684HCFC1c.3728C>G (p.Thr1243Ser)
c.3530C>G (p.Thr1177Ser)
c.2819C>G (p.Thr940Ser)
Xg.153954671G>TCA415119682HCFC1c.3728C>A (p.Thr1243Asn)
c.3530C>A (p.Thr1177Asn)
c.2819C>A (p.Thr940Asn)
Xg.153954672T>ACA415119690HCFC1c.3727A>T (p.Thr1243Ser)
c.3529A>T (p.Thr1177Ser)
c.2818A>T (p.Thr940Ser)
Xg.153954672T>CCA415119692HCFC1c.3727A>G (p.Thr1243Ala)
c.3529A>G (p.Thr1177Ala)
c.2818A>G (p.Thr940Ala)
Xg.153954672T>GCA415119694HCFC1c.3727A>C (p.Thr1243Pro)
c.3529A>C (p.Thr1177Pro)
c.2818A>C (p.Thr940Pro)
Xg.153954673C>ACA415119697HCFC1c.3726G>T (p.Met1242Ile)
c.3528G>T (p.Met1176Ile)
c.2817G>T (p.Met939Ile)
Xg.153954673C>GCA415119699HCFC1c.3726G>C (p.Met1242Ile)
c.3528G>C (p.Met1176Ile)
c.2817G>C (p.Met939Ile)
Xg.153954673C>TCA415119702HCFC1c.3726G>A (p.Met1242Ile)
c.3528G>A (p.Met1176Ile)
c.2817G>A (p.Met939Ile)
Xg.153954674A=CA2466540229HCFC1c.3725T= (p.Met1242=)
c.3527T= (p.Met1176=)
c.2816T= (p.Met939=)
Xg.153954674A>CCA415119705HCFC1c.3725T>G (p.Met1242Arg)
c.3527T>G (p.Met1176Arg)
c.2816T>G (p.Met939Arg)
Xg.153954674A>GCA415119709HCFC1c.3725T>C (p.Met1242Thr)
c.3527T>C (p.Met1176Thr)
c.2816T>C (p.Met939Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.153954674A>TCA415119710HCFC1c.3725T>A (p.Met1242Lys)
c.3527T>A (p.Met1176Lys)
c.2816T>A (p.Met939Lys)
Xg.153954675T>ACA415119712HCFC1c.3724A>T (p.Met1242Leu)
c.3526A>T (p.Met1176Leu)
c.2815A>T (p.Met939Leu)
Xg.153954675T>CCA415119715HCFC1c.3724A>G (p.Met1242Val)
c.3526A>G (p.Met1176Val)
c.2815A>G (p.Met939Val)
 dbSNP
Xg.153954675T>GCA415119716HCFC1c.3724A>C (p.Met1242Leu)
c.3526A>C (p.Met1176Leu)
c.2815A>C (p.Met939Leu)
Xg.153954675T=CA2466540230HCFC1c.3724A= (p.Met1242=)
c.3526A= (p.Met1176=)
c.2815A= (p.Met939=)
Xg.153954676G>ACA519702434HCFC1c.3723C>T (p.Ala1241=)
c.3525C>T (p.Ala1175=)
c.2814C>T (p.Ala938=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954676G>CCA519702440HCFC1c.3723C>G (p.Ala1241=)
c.3525C>G (p.Ala1175=)
c.2814C>G (p.Ala938=)
Xg.153954676G=CA2466540231HCFC1c.3723C= (p.Ala1241=)
c.3525C= (p.Ala1175=)
c.2814C= (p.Ala938=)
Xg.153954676G>TCA519702437HCFC1c.3723C>A (p.Ala1241=)
c.3525C>A (p.Ala1175=)
c.2814C>A (p.Ala938=)
Xg.153954677G>ACA415119721HCFC1c.3722C>T (p.Ala1241Val)
c.3524C>T (p.Ala1175Val)
c.2813C>T (p.Ala938Val)
Xg.153954677G>CCA415119718HCFC1c.3722C>G (p.Ala1241Gly)
c.3524C>G (p.Ala1175Gly)
c.2813C>G (p.Ala938Gly)
Xg.153954677G>TCA415119719HCFC1c.3722C>A (p.Ala1241Asp)
c.3524C>A (p.Ala1175Asp)
c.2813C>A (p.Ala938Asp)
 gnomAD v4
Xg.153954678C>ACA415119723HCFC1c.3721G>T (p.Ala1241Ser)
c.3523G>T (p.Ala1175Ser)
c.2812G>T (p.Ala938Ser)
Xg.153954678C>GCA415119726HCFC1c.3721G>C (p.Ala1241Pro)
c.3523G>C (p.Ala1175Pro)
c.2812G>C (p.Ala938Pro)
Xg.153954678C>TCA415119728HCFC1c.3721G>A (p.Ala1241Thr)
c.3523G>A (p.Ala1175Thr)
c.2812G>A (p.Ala938Thr)
Xg.153954679A>CCA519702446HCFC1c.3720T>G (p.Ala1240=)
c.3522T>G (p.Ala1174=)
c.2811T>G (p.Ala937=)
Xg.153954679A>GCA519702449HCFC1c.3720T>C (p.Ala1240=)
c.3522T>C (p.Ala1174=)
c.2811T>C (p.Ala937=)
 gnomAD v4
Xg.153954679A>TCA519702450HCFC1c.3720T>A (p.Ala1240=)
c.3522T>A (p.Ala1174=)
c.2811T>A (p.Ala937=)
Xg.153954680G>ACA10557144HCFC1c.3719C>T (p.Ala1240Val)
c.3521C>T (p.Ala1174Val)
c.2810C>T (p.Ala937Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954680G>CCA10557145HCFC1c.3719C>G (p.Ala1240Gly)
c.3521C>G (p.Ala1174Gly)
c.2810C>G (p.Ala937Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954680G=CA2466540232HCFC1c.3719C= (p.Ala1240=)
c.3521C= (p.Ala1174=)
c.2810C= (p.Ala937=)
Xg.153954680G>TCA415119733HCFC1c.3719C>A (p.Ala1240Asp)
c.3521C>A (p.Ala1174Asp)
c.2810C>A (p.Ala937Asp)
 gnomAD v4
Xg.153954681C>ACA415119736HCFC1c.3718G>T (p.Ala1240Ser)
c.3520G>T (p.Ala1174Ser)
c.2809G>T (p.Ala937Ser)
Xg.153954681C=CA2466540233HCFC1c.3718G= (p.Ala1240=)
c.3520G= (p.Ala1174=)
c.2809G= (p.Ala937=)
Xg.153954681C>GCA415119739HCFC1c.3718G>C (p.Ala1240Pro)
c.3520G>C (p.Ala1174Pro)
c.2809G>C (p.Ala937Pro)
Xg.153954681C>TCA10557146HCFC1c.3718G>A (p.Ala1240Thr)
c.3520G>A (p.Ala1174Thr)
c.2809G>A (p.Ala937Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954682G>ACA10557147HCFC1c.3717C>T (p.Thr1239=)
c.3519C>T (p.Thr1173=)
c.2808C>T (p.Thr936=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.153954682G>CCA519702455HCFC1c.3717C>G (p.Thr1239=)
c.3519C>G (p.Thr1173=)
c.2808C>G (p.Thr936=)
Xg.153954682G=CA2466540234HCFC1c.3717C= (p.Thr1239=)
c.3519C= (p.Thr1173=)
c.2808C= (p.Thr936=)
Xg.153954682G>TCA519702456HCFC1c.3717C>A (p.Thr1239=)
c.3519C>A (p.Thr1173=)
c.2808C>A (p.Thr936=)
Xg.153954683G>ACA415119747HCFC1c.3716C>T (p.Thr1239Ile)
c.3518C>T (p.Thr1173Ile)
c.2807C>T (p.Thr936Ile)
 gnomAD v4
Xg.153954683G>CCA415119752HCFC1c.3716C>G (p.Thr1239Ser)
c.3518C>G (p.Thr1173Ser)
c.2807C>G (p.Thr936Ser)
Xg.153954683G>TCA415119750HCFC1c.3716C>A (p.Thr1239Asn)
c.3518C>A (p.Thr1173Asn)
c.2807C>A (p.Thr936Asn)
 gnomAD v4
Xg.153954684T>ACA415119756HCFC1c.3715A>T (p.Thr1239Ser)
c.3517A>T (p.Thr1173Ser)
c.2806A>T (p.Thr936Ser)
Xg.153954684T>CCA415119761HCFC1c.3715A>G (p.Thr1239Ala)
c.3517A>G (p.Thr1173Ala)
c.2806A>G (p.Thr936Ala)
 gnomAD v4
Xg.153954684T>GCA415119759HCFC1c.3715A>C (p.Thr1239Pro)
c.3517A>C (p.Thr1173Pro)
c.2806A>C (p.Thr936Pro)
Xg.153954685G>ACA519702462HCFC1c.3714C>T (p.Ser1238=)
c.3516C>T (p.Ser1172=)
c.2805C>T (p.Ser935=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.153954685G>CCA415119763HCFC1c.3714C>G (p.Ser1238Arg)
c.3516C>G (p.Ser1172Arg)
c.2805C>G (p.Ser935Arg)
Xg.153954685G=CA2466540235HCFC1c.3714C= (p.Ser1238=)
c.3516C= (p.Ser1172=)
c.2805C= (p.Ser935=)
Xg.153954685G>TCA415119765HCFC1c.3714C>A (p.Ser1238Arg)
c.3516C>A (p.Ser1172Arg)
c.2805C>A (p.Ser935Arg)
Xg.153954686C>ACA415119766HCFC1c.3713G>T (p.Ser1238Ile)
c.3515G>T (p.Ser1172Ile)
c.2804G>T (p.Ser935Ile)
 gnomAD v4
Xg.153954686C=CA2466540236HCFC1c.3713G= (p.Ser1238=)
c.3515G= (p.Ser1172=)
c.2804G= (p.Ser935=)
Xg.153954686C>GCA415119767HCFC1c.3713G>C (p.Ser1238Thr)
c.3515G>C (p.Ser1172Thr)
c.2804G>C (p.Ser935Thr)
Xg.153954686C>TCA415119769HCFC1c.3713G>A (p.Ser1238Asn)
c.3515G>A (p.Ser1172Asn)
c.2804G>A (p.Ser935Asn)
 dbSNP
Xg.153954687T>ACA415119771HCFC1c.3712A>T (p.Ser1238Cys)
c.3514A>T (p.Ser1172Cys)
c.2803A>T (p.Ser935Cys)
Xg.153954687T>CCA415119773HCFC1c.3712A>G (p.Ser1238Gly)
c.3514A>G (p.Ser1172Gly)
c.2803A>G (p.Ser935Gly)
 dbSNP gnomAD v3 gnomAD v4
Xg.153954687T>GCA415119774HCFC1c.3712A>C (p.Ser1238Arg)
c.3514A>C (p.Ser1172Arg)
c.2803A>C (p.Ser935Arg)
Xg.153954687T=CA2466540237HCFC1c.3712A= (p.Ser1238=)
c.3514A= (p.Ser1172=)
c.2803A= (p.Ser935=)
Xg.153954688G>ACA10557148HCFC1c.3711C>T (p.Val1237=)
c.3513C>T (p.Val1171=)
c.2802C>T (p.Val934=)
 dbSNP ExAC gnomAD v2
Xg.153954688G>CCA519702468HCFC1c.3711C>G (p.Val1237=)
c.3513C>G (p.Val1171=)
c.2802C>G (p.Val934=)
Xg.153954688G=CA2466540238HCFC1c.3711C= (p.Val1237=)
c.3513C= (p.Val1171=)
c.2802C= (p.Val934=)
Xg.153954688G>TCA519702469HCFC1c.3711C>A (p.Val1237=)
c.3513C>A (p.Val1171=)
c.2802C>A (p.Val934=)
Xg.153954689A=CA2466540239HCFC1c.3710T= (p.Val1237=)
c.3512T= (p.Val1171=)
c.2801T= (p.Val934=)
Xg.153954689A>CCA415119775HCFC1c.3710T>G (p.Val1237Gly)
c.3512T>G (p.Val1171Gly)
c.2801T>G (p.Val934Gly)
Xg.153954689A>GCA415119777HCFC1c.3710T>C (p.Val1237Ala)
c.3512T>C (p.Val1171Ala)
c.2801T>C (p.Val934Ala)
Xg.153954689A>TCA10557149HCFC1c.3710T>A (p.Val1237Asp)
c.3512T>A (p.Val1171Asp)
c.2801T>A (p.Val934Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153954690C>ACA415119782HCFC1c.3709G>T (p.Val1237Phe)
c.3511G>T (p.Val1171Phe)
c.2800G>T (p.Val934Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954690C=CA2466540240HCFC1c.3709G= (p.Val1237=)
c.3511G= (p.Val1171=)
c.2800G= (p.Val934=)
Xg.153954690C>GCA415119780HCFC1c.3709G>C (p.Val1237Leu)
c.3511G>C (p.Val1171Leu)
c.2800G>C (p.Val934Leu)
Xg.153954690C>TCA415119779HCFC1c.3709G>A (p.Val1237Ile)
c.3511G>A (p.Val1171Ile)
c.2800G>A (p.Val934Ile)
Xg.153954691C>ACA519702476HCFC1c.3708G>T (p.Ala1236=)
c.3510G>T (p.Ala1170=)
c.2799G>T (p.Ala933=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.153954691C=CA2466540241HCFC1c.3708G= (p.Ala1236=)
c.3510G= (p.Ala1170=)
c.2799G= (p.Ala933=)
Xg.153954691C>GCA519702478HCFC1c.3708G>C (p.Ala1236=)
c.3510G>C (p.Ala1170=)
c.2799G>C (p.Ala933=)
 ClinVar gnomAD v4
Xg.153954691C>TCA10557150HCFC1c.3708G>A (p.Ala1236=)
c.3510G>A (p.Ala1170=)
c.2799G>A (p.Ala933=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954692G>ACA10557151HCFC1c.3707C>T (p.Ala1236Val)
c.3509C>T (p.Ala1170Val)
c.2798C>T (p.Ala933Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954692G>CCA415119785HCFC1c.3707C>G (p.Ala1236Gly)
c.3509C>G (p.Ala1170Gly)
c.2798C>G (p.Ala933Gly)
 dbSNP gnomAD v2 gnomAD v4
Xg.153954692G=CA2466540242HCFC1c.3707C= (p.Ala1236=)
c.3509C= (p.Ala1170=)
c.2798C= (p.Ala933=)
Xg.153954692G>TCA415119786HCFC1c.3707C>A (p.Ala1236Glu)
c.3509C>A (p.Ala1170Glu)
c.2798C>A (p.Ala933Glu)
 gnomAD v4
Xg.153954693C>ACA415119788HCFC1c.3706G>T (p.Ala1236Ser)
c.3508G>T (p.Ala1170Ser)
c.2797G>T (p.Ala933Ser)
 COSMIC COSMIC
Xg.153954693C>GCA415119790HCFC1c.3706G>C (p.Ala1236Pro)
c.3508G>C (p.Ala1170Pro)
c.2797G>C (p.Ala933Pro)
Xg.153954693C>TCA415119792HCFC1c.3706G>A (p.Ala1236Thr)
c.3508G>A (p.Ala1170Thr)
c.2797G>A (p.Ala933Thr)
Xg.153954694A>CCA415119793HCFC1c.3705T>G (p.His1235Gln)
c.3507T>G (p.His1169Gln)
c.2796T>G (p.His932Gln)
Xg.153954694A>GCA519702485HCFC1c.3705T>C (p.His1235=)
c.3507T>C (p.His1169=)
c.2796T>C (p.His932=)
Xg.153954694A>TCA415119794HCFC1c.3705T>A (p.His1235Gln)
c.3507T>A (p.His1169Gln)
c.2796T>A (p.His932Gln)
Xg.153954695T>ACA415119795HCFC1c.3704A>T (p.His1235Leu)
c.3506A>T (p.His1169Leu)
c.2795A>T (p.His932Leu)
Xg.153954695T>CCA415119797HCFC1c.3704A>G (p.His1235Arg)
c.3506A>G (p.His1169Arg)
c.2795A>G (p.His932Arg)
Xg.153954695T>GCA415119799HCFC1c.3704A>C (p.His1235Pro)
c.3506A>C (p.His1169Pro)
c.2795A>C (p.His932Pro)
Xg.153954696G>ACA415119803HCFC1c.3703C>T (p.His1235Tyr)
c.3505C>T (p.His1169Tyr)
c.2794C>T (p.His932Tyr)
 gnomAD v4
Xg.153954696G>CCA415119801HCFC1c.3703C>G (p.His1235Asp)
c.3505C>G (p.His1169Asp)
c.2794C>G (p.His932Asp)
Xg.153954696G>TCA415119802HCFC1c.3703C>A (p.His1235Asn)
c.3505C>A (p.His1169Asn)
c.2794C>A (p.His932Asn)
Xg.153954697G>ACA519702494HCFC1c.3702C>T (p.Ser1234=)
c.3504C>T (p.Ser1168=)
c.2793C>T (p.Ser931=)
 gnomAD v4
Xg.153954697G>CCA415119804HCFC1c.3702C>G (p.Ser1234Arg)
c.3504C>G (p.Ser1168Arg)
c.2793C>G (p.Ser931Arg)
 gnomAD v4
Xg.153954697G>TCA415119805HCFC1c.3702C>A (p.Ser1234Arg)
c.3504C>A (p.Ser1168Arg)
c.2793C>A (p.Ser931Arg)
 gnomAD v4
Xg.153954698C>ACA415119806HCFC1c.3701G>T (p.Ser1234Ile)
c.3503G>T (p.Ser1168Ile)
c.2792G>T (p.Ser931Ile)
Xg.153954698C>GCA415119807HCFC1c.3701G>C (p.Ser1234Thr)
c.3503G>C (p.Ser1168Thr)
c.2792G>C (p.Ser931Thr)
Xg.153954698C>TCA415119808HCFC1c.3701G>A (p.Ser1234Asn)
c.3503G>A (p.Ser1168Asn)
c.2792G>A (p.Ser931Asn)
 gnomAD v4
Xg.153954699T>ACA415119809HCFC1c.3700A>T (p.Ser1234Cys)
c.3502A>T (p.Ser1168Cys)
c.2791A>T (p.Ser931Cys)
Xg.153954699T>CCA415119810HCFC1c.3700A>G (p.Ser1234Gly)
c.3502A>G (p.Ser1168Gly)
c.2791A>G (p.Ser931Gly)
Xg.153954699T>GCA415119811HCFC1c.3700A>C (p.Ser1234Arg)
c.3502A>C (p.Ser1168Arg)
c.2791A>C (p.Ser931Arg)
Xg.153954700G>ACA10557152HCFC1c.3699C>T (p.His1233=)
c.3501C>T (p.His1167=)
c.2790C>T (p.His930=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153954700G>CCA415119815HCFC1c.3699C>G (p.His1233Gln)
c.3501C>G (p.His1167Gln)
c.2790C>G (p.His930Gln)
Xg.153954700G=CA2466540243HCFC1c.3699C= (p.His1233=)
c.3501C= (p.His1167=)
c.2790C= (p.His930=)
Xg.153954700G>TCA415119816HCFC1c.3699C>A (p.His1233Gln)
c.3501C>A (p.His1167Gln)
c.2790C>A (p.His930Gln)
 gnomAD v4
Xg.153954701T>ACA415119821HCFC1c.3698A>T (p.His1233Leu)
c.3500A>T (p.His1167Leu)
c.2789A>T (p.His930Leu)
Xg.153954701T>CCA415119819HCFC1c.3698A>G (p.His1233Arg)
c.3500A>G (p.His1167Arg)
c.2789A>G (p.His930Arg)
 dbSNP gnomAD v3 gnomAD v4
Xg.153954701T>GCA415119817HCFC1c.3698A>C (p.His1233Pro)
c.3500A>C (p.His1167Pro)
c.2789A>C (p.His930Pro)
Xg.153954701T=CA2466540244HCFC1c.3698A= (p.His1233=)
c.3500A= (p.His1167=)
c.2789A= (p.His930=)
Xg.153954702G>ACA337252819HCFC1c.3697C>T (p.His1233Tyr)
c.3499C>T (p.His1167Tyr)
c.2788C>T (p.His930Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954702G>CCA415119823HCFC1c.3697C>G (p.His1233Asp)
c.3499C>G (p.His1167Asp)
c.2788C>G (p.His930Asp)
Xg.153954702G=CA2466540245HCFC1c.3697C= (p.His1233=)
c.3499C= (p.His1167=)
c.2788C= (p.His930=)
Xg.153954702G>TCA415119825HCFC1c.3697C>A (p.His1233Asn)
c.3499C>A (p.His1167Asn)
c.2788C>A (p.His930Asn)
Xg.153954703G>ACA519702506HCFC1c.3696C>T (p.Arg1232=)
c.3498C>T (p.Arg1166=)
c.2787C>T (p.Arg929=)
Xg.153954703G>CCA519702507HCFC1c.3696C>G (p.Arg1232=)
c.3498C>G (p.Arg1166=)
c.2787C>G (p.Arg929=)
Xg.153954703G>TCA519702508HCFC1c.3696C>A (p.Arg1232=)
c.3498C>A (p.Arg1166=)
c.2787C>A (p.Arg929=)
Xg.153954704C>ACA415119828HCFC1c.3695G>T (p.Arg1232Leu)
c.3497G>T (p.Arg1166Leu)
c.2786G>T (p.Arg929Leu)
Xg.153954704C=CA2466540246HCFC1c.3695G= (p.Arg1232=)
c.3497G= (p.Arg1166=)
c.2786G= (p.Arg929=)
Xg.153954704C>GCA415119829HCFC1c.3695G>C (p.Arg1232Pro)
c.3497G>C (p.Arg1166Pro)
c.2786G>C (p.Arg929Pro)
Xg.153954704C>TCA10557153HCFC1c.3695G>A (p.Arg1232His)
c.3497G>A (p.Arg1166His)
c.2786G>A (p.Arg929His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.153954705G>ACA10557154HCFC1c.3694C>T (p.Arg1232Cys)
c.3496C>T (p.Arg1166Cys)
c.2785C>T (p.Arg929Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153954705G>CCA415119832HCFC1c.3694C>G (p.Arg1232Gly)
c.3496C>G (p.Arg1166Gly)
c.2785C>G (p.Arg929Gly)
Xg.153954705G=CA2466540247HCFC1c.3694C= (p.Arg1232=)
c.3496C= (p.Arg1166=)
c.2785C= (p.Arg929=)
Xg.153954705G>TCA415119834HCFC1c.3694C>A (p.Arg1232Ser)
c.3496C>A (p.Arg1166Ser)
c.2785C>A (p.Arg929Ser)
 gnomAD v4
Xg.153954706C>ACA519702509HCFC1c.3693G>T (p.Gly1231=)
c.3495G>T (p.Gly1165=)
c.2784G>T (p.Gly928=)
Xg.153954706C>GCA519702514HCFC1c.3693G>C (p.Gly1231=)
c.3495G>C (p.Gly1165=)
c.2784G>C (p.Gly928=)
Xg.153954706C>TCA519702512HCFC1c.3693G>A (p.Gly1231=)
c.3495G>A (p.Gly1165=)
c.2784G>A (p.Gly928=)
Xg.153954707C>ACA415119836HCFC1c.3692G>T (p.Gly1231Val)
c.3494G>T (p.Gly1165Val)
c.2783G>T (p.Gly928Val)
Xg.153954707C=CA2466540248HCFC1c.3692G= (p.Gly1231=)
c.3494G= (p.Gly1165=)
c.2783G= (p.Gly928=)
Xg.153954707C>GCA415119838HCFC1c.3692G>C (p.Gly1231Ala)
c.3494G>C (p.Gly1165Ala)
c.2783G>C (p.Gly928Ala)
Xg.153954707C>TCA415119840HCFC1c.3692G>A (p.Gly1231Glu)
c.3494G>A (p.Gly1165Glu)
c.2783G>A (p.Gly928Glu)
 dbSNP gnomAD v2 gnomAD v4
Xg.153954708C>ACA415119842HCFC1c.3691G>T (p.Gly1231Trp)
c.3493G>T (p.Gly1165Trp)
c.2782G>T (p.Gly928Trp)
Xg.153954708C>GCA415119844HCFC1c.3691G>C (p.Gly1231Arg)
c.3493G>C (p.Gly1165Arg)
c.2782G>C (p.Gly928Arg)
Xg.153954708C>TCA415119843HCFC1c.3691G>A (p.Gly1231Arg)
c.3493G>A (p.Gly1165Arg)
c.2782G>A (p.Gly928Arg)
 gnomAD v4
Xg.153954709C>ACA519702519HCFC1c.3690G>T (p.Ala1230=)
c.3492G>T (p.Ala1164=)
c.2781G>T (p.Ala927=)
 gnomAD v4
Xg.153954709C=CA2466540249HCFC1c.3690G= (p.Ala1230=)
c.3492G= (p.Ala1164=)
c.2781G= (p.Ala927=)
Xg.153954709C>GCA519702520HCFC1c.3690G>C (p.Ala1230=)
c.3492G>C (p.Ala1164=)
c.2781G>C (p.Ala927=)
Xg.153954709C>TCA206502HCFC1c.3690G>A (p.Ala1230=)
c.3492G>A (p.Ala1164=)
c.2781G>A (p.Ala927=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954710G>ACA10557155HCFC1c.3689C>T (p.Ala1230Val)
c.3491C>T (p.Ala1164Val)
c.2780C>T (p.Ala927Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954710G>CCA415119847HCFC1c.3689C>G (p.Ala1230Gly)
c.3491C>G (p.Ala1164Gly)
c.2780C>G (p.Ala927Gly)
Xg.153954710G=CA2466540250HCFC1c.3689C= (p.Ala1230=)
c.3491C= (p.Ala1164=)
c.2780C= (p.Ala927=)
Xg.153954710G>TCA415119848HCFC1c.3689C>A (p.Ala1230Glu)
c.3491C>A (p.Ala1164Glu)
c.2780C>A (p.Ala927Glu)
 gnomAD v4
Xg.153954711C>ACA415119851HCFC1c.3688G>T (p.Ala1230Ser)
c.3490G>T (p.Ala1164Ser)
c.2779G>T (p.Ala927Ser)
Xg.153954711C=CA2466540251HCFC1c.3688G= (p.Ala1230=)
c.3490G= (p.Ala1164=)
c.2779G= (p.Ala927=)
Xg.153954711C>GCA415119852HCFC1c.3688G>C (p.Ala1230Pro)
c.3490G>C (p.Ala1164Pro)
c.2779G>C (p.Ala927Pro)
Xg.153954711C>TCA10557156HCFC1c.3688G>A (p.Ala1230Thr)
c.3490G>A (p.Ala1164Thr)
c.2779G>A (p.Ala927Thr)
 dbSNP ExAC gnomAD v2
Xg.153954712A>CCA519702528HCFC1c.3687T>G (p.Pro1229=)
c.3489T>G (p.Pro1163=)
c.2778T>G (p.Pro926=)
Xg.153954712A>GCA519702529HCFC1c.3687T>C (p.Pro1229=)
c.3489T>C (p.Pro1163=)
c.2778T>C (p.Pro926=)
 gnomAD v4
Xg.153954712A>TCA519702530HCFC1c.3687T>A (p.Pro1229=)
c.3489T>A (p.Pro1163=)
c.2778T>A (p.Pro926=)
Xg.153954713G>ACA10557157HCFC1c.3686C>T (p.Pro1229Leu)
c.3488C>T (p.Pro1163Leu)
c.2777C>T (p.Pro926Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954713G>CCA415119855HCFC1c.3686C>G (p.Pro1229Arg)
c.3488C>G (p.Pro1163Arg)
c.2777C>G (p.Pro926Arg)
Xg.153954713G=CA2466540252HCFC1c.3686C= (p.Pro1229=)
c.3488C= (p.Pro1163=)
c.2777C= (p.Pro926=)
Xg.153954713G>TCA415119857HCFC1c.3686C>A (p.Pro1229His)
c.3488C>A (p.Pro1163His)
c.2777C>A (p.Pro926His)
Xg.153954714G>ACA415119859HCFC1c.3685C>T (p.Pro1229Ser)
c.3487C>T (p.Pro1163Ser)
c.2776C>T (p.Pro926Ser)
 ClinVar dbSNP gnomAD v4
Xg.153954714G>CCA415119861HCFC1c.3685C>G (p.Pro1229Ala)
c.3487C>G (p.Pro1163Ala)
c.2776C>G (p.Pro926Ala)
Xg.153954714G=CA2466540253HCFC1c.3685C= (p.Pro1229=)
c.3487C= (p.Pro1163=)
c.2776C= (p.Pro926=)
Xg.153954714G>TCA415119862HCFC1c.3685C>A (p.Pro1229Thr)
c.3487C>A (p.Pro1163Thr)
c.2776C>A (p.Pro926Thr)
Xg.153954715A>CCA519702534HCFC1c.3684T>G (p.Leu1228=)
c.3486T>G (p.Leu1162=)
c.2775T>G (p.Leu925=)
Xg.153954715A>GCA519702535HCFC1c.3684T>C (p.Leu1228=)
c.3486T>C (p.Leu1162=)
c.2775T>C (p.Leu925=)
Xg.153954715A>TCA519702536HCFC1c.3684T>A (p.Leu1228=)
c.3486T>A (p.Leu1162=)
c.2775T>A (p.Leu925=)
Xg.153954716A>CCA415119868HCFC1c.3683T>G (p.Leu1228Arg)
c.3485T>G (p.Leu1162Arg)
c.2774T>G (p.Leu925Arg)
Xg.153954716A>GCA415119864HCFC1c.3683T>C (p.Leu1228Pro)
c.3485T>C (p.Leu1162Pro)
c.2774T>C (p.Leu925Pro)
Xg.153954716A>TCA415119866HCFC1c.3683T>A (p.Leu1228His)
c.3485T>A (p.Leu1162His)
c.2774T>A (p.Leu925His)
Xg.153954717G>ACA10557158HCFC1c.3682C>T (p.Leu1228Phe)
c.3484C>T (p.Leu1162Phe)
c.2773C>T (p.Leu925Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954717G>CCA415119870HCFC1c.3682C>G (p.Leu1228Val)
c.3484C>G (p.Leu1162Val)
c.2773C>G (p.Leu925Val)
Xg.153954717G=CA2466540254HCFC1c.3682C= (p.Leu1228=)
c.3484C= (p.Leu1162=)
c.2773C= (p.Leu925=)
Xg.153954717G>TCA415119872HCFC1c.3682C>A (p.Leu1228Ile)
c.3484C>A (p.Leu1162Ile)
c.2773C>A (p.Leu925Ile)
Xg.153954718G>ACA519702542HCFC1c.3681C>T (p.Asp1227=)
c.3483C>T (p.Asp1161=)
c.2772C>T (p.Asp924=)
 dbSNP gnomAD v2
Xg.153954718G>CCA415119874HCFC1c.3681C>G (p.Asp1227Glu)
c.3483C>G (p.Asp1161Glu)
c.2772C>G (p.Asp924Glu)
 ClinVar
Xg.153954718G=CA2466540255HCFC1c.3681C= (p.Asp1227=)
c.3483C= (p.Asp1161=)
c.2772C= (p.Asp924=)
Xg.153954718G>TCA415119875HCFC1c.3681C>A (p.Asp1227Glu)
c.3483C>A (p.Asp1161Glu)
c.2772C>A (p.Asp924Glu)
 gnomAD v4
Xg.153954719T>ACA415119877HCFC1c.3680A>T (p.Asp1227Val)
c.3482A>T (p.Asp1161Val)
c.2771A>T (p.Asp924Val)
Xg.153954719T>CCA415119879HCFC1c.3680A>G (p.Asp1227Gly)
c.3482A>G (p.Asp1161Gly)
c.2771A>G (p.Asp924Gly)
Xg.153954719T>GCA415119880HCFC1c.3680A>C (p.Asp1227Ala)
c.3482A>C (p.Asp1161Ala)
c.2771A>C (p.Asp924Ala)
Xg.153954720C>ACA415119882HCFC1c.3679G>T (p.Asp1227Tyr)
c.3481G>T (p.Asp1161Tyr)
c.2770G>T (p.Asp924Tyr)
Xg.153954720C>GCA415119883HCFC1c.3679G>C (p.Asp1227His)
c.3481G>C (p.Asp1161His)
c.2770G>C (p.Asp924His)
Xg.153954720C>TCA415119885HCFC1c.3679G>A (p.Asp1227Asn)
c.3481G>A (p.Asp1161Asn)
c.2770G>A (p.Asp924Asn)
Xg.153954721C>ACA415119886HCFC1c.3678G>T (p.Lys1226Asn)
c.3480G>T (p.Lys1160Asn)
c.2769G>T (p.Lys923Asn)
Xg.153954721C>GCA415119887HCFC1c.3678G>C (p.Lys1226Asn)
c.3480G>C (p.Lys1160Asn)
c.2769G>C (p.Lys923Asn)
Xg.153954721C>TCA519702547HCFC1c.3678G>A (p.Lys1226=)
c.3480G>A (p.Lys1160=)
c.2769G>A (p.Lys923=)
Xg.153954722T>ACA415119888HCFC1c.3677A>T (p.Lys1226Met)
c.3479A>T (p.Lys1160Met)
c.2768A>T (p.Lys923Met)
Xg.153954722T>CCA415119889HCFC1c.3677A>G (p.Lys1226Arg)
c.3479A>G (p.Lys1160Arg)
c.2768A>G (p.Lys923Arg)
Xg.153954722T>GCA415119890HCFC1c.3677A>C (p.Lys1226Thr)
c.3479A>C (p.Lys1160Thr)
c.2768A>C (p.Lys923Thr)
Xg.153954723T>ACA415119892HCFC1c.3676A>T (p.Lys1226Ter)
c.3478A>T (p.Lys1160Ter)
c.2767A>T (p.Lys923Ter)
Xg.153954723T>CCA415119894HCFC1c.3676A>G (p.Lys1226Glu)
c.3478A>G (p.Lys1160Glu)
c.2767A>G (p.Lys923Glu)
Xg.153954723T>GCA415119895HCFC1c.3676A>C (p.Lys1226Gln)
c.3478A>C (p.Lys1160Gln)
c.2767A>C (p.Lys923Gln)
Xg.153954724A>CCA415119897HCFC1c.3675T>G (p.Ile1225Met)
c.3477T>G (p.Ile1159Met)
c.2766T>G (p.Ile922Met)
Xg.153954724A>GCA519702551HCFC1c.3675T>C (p.Ile1225=)
c.3477T>C (p.Ile1159=)
c.2766T>C (p.Ile922=)
Xg.153954724A>TCA519702552HCFC1c.3675T>A (p.Ile1225=)
c.3477T>A (p.Ile1159=)
c.2766T>A (p.Ile922=)
Xg.153954725A=CA2466540256HCFC1c.3674T= (p.Ile1225=)
c.3476T= (p.Ile1159=)
c.2765T= (p.Ile922=)
Xg.153954725A>CCA415119899HCFC1c.3674T>G (p.Ile1225Ser)
c.3476T>G (p.Ile1159Ser)
c.2765T>G (p.Ile922Ser)
Xg.153954725A>GCA415119901HCFC1c.3674T>C (p.Ile1225Thr)
c.3476T>C (p.Ile1159Thr)
c.2765T>C (p.Ile922Thr)
 ClinVar dbSNP
Xg.153954725A>TCA415119903HCFC1c.3674T>A (p.Ile1225Asn)
c.3476T>A (p.Ile1159Asn)
c.2765T>A (p.Ile922Asn)
Xg.153954726T>ACA415119908HCFC1c.3673A>T (p.Ile1225Phe)
c.3475A>T (p.Ile1159Phe)
c.2764A>T (p.Ile922Phe)
Xg.153954726T>CCA415119907HCFC1c.3673A>G (p.Ile1225Val)
c.3475A>G (p.Ile1159Val)
c.2764A>G (p.Ile922Val)
 gnomAD v4
Xg.153954726T>GCA415119905HCFC1c.3673A>C (p.Ile1225Leu)
c.3475A>C (p.Ile1159Leu)
c.2764A>C (p.Ile922Leu)
Xg.153954727G>ACA519702559HCFC1c.3672C>T (p.Ser1224=)
c.3474C>T (p.Ser1158=)
c.2763C>T (p.Ser921=)
 dbSNP gnomAD v4
Xg.153954727G>CCA415119910HCFC1c.3672C>G (p.Ser1224Arg)
c.3474C>G (p.Ser1158Arg)
c.2763C>G (p.Ser921Arg)
Xg.153954727G=CA2466540257HCFC1c.3672C= (p.Ser1224=)
c.3474C= (p.Ser1158=)
c.2763C= (p.Ser921=)
Xg.153954727G>TCA415119912HCFC1c.3672C>A (p.Ser1224Arg)
c.3474C>A (p.Ser1158Arg)
c.2763C>A (p.Ser921Arg)
Xg.153954728C>ACA415119914HCFC1c.3671G>T (p.Ser1224Ile)
c.3473G>T (p.Ser1158Ile)
c.2762G>T (p.Ser921Ile)
 gnomAD v4
Xg.153954728C>GCA415119915HCFC1c.3671G>C (p.Ser1224Thr)
c.3473G>C (p.Ser1158Thr)
c.2762G>C (p.Ser921Thr)
Xg.153954728C>TCA415119917HCFC1c.3671G>A (p.Ser1224Asn)
c.3473G>A (p.Ser1158Asn)
c.2762G>A (p.Ser921Asn)
Xg.153954729T>ACA415119919HCFC1c.3670A>T (p.Ser1224Cys)
c.3472A>T (p.Ser1158Cys)
c.2761A>T (p.Ser921Cys)
Xg.153954729T>CCA415119921HCFC1c.3670A>G (p.Ser1224Gly)
c.3472A>G (p.Ser1158Gly)
c.2761A>G (p.Ser921Gly)
 gnomAD v4
Xg.153954729T>GCA415119923HCFC1c.3670A>C (p.Ser1224Arg)
c.3472A>C (p.Ser1158Arg)
c.2761A>C (p.Ser921Arg)
Xg.153954730T>ACA519702563HCFC1c.3669A>T (p.Pro1223=)
c.3471A>T (p.Pro1157=)
c.2760A>T (p.Pro920=)
Xg.153954730T>CCA519702564HCFC1c.3669A>G (p.Pro1223=)
c.3471A>G (p.Pro1157=)
c.2760A>G (p.Pro920=)
Xg.153954730T>GCA519702565HCFC1c.3669A>C (p.Pro1223=)
c.3471A>C (p.Pro1157=)
c.2760A>C (p.Pro920=)
Xg.153954731G>ACA415119925HCFC1c.3668C>T (p.Pro1223Leu)
c.3470C>T (p.Pro1157Leu)
c.2759C>T (p.Pro920Leu)
Xg.153954731G>CCA415119926HCFC1c.3668C>G (p.Pro1223Arg)
c.3470C>G (p.Pro1157Arg)
c.2759C>G (p.Pro920Arg)
Xg.153954731G>TCA415119927HCFC1c.3668C>A (p.Pro1223Gln)
c.3470C>A (p.Pro1157Gln)
c.2759C>A (p.Pro920Gln)
Xg.153954732G>ACA415119934HCFC1c.3667C>T (p.Pro1223Ser)
c.3469C>T (p.Pro1157Ser)
c.2758C>T (p.Pro920Ser)
 dbSNP gnomAD v3 gnomAD v4
Xg.153954732G>CCA415119932HCFC1c.3667C>G (p.Pro1223Ala)
c.3469C>G (p.Pro1157Ala)
c.2758C>G (p.Pro920Ala)
Xg.153954732G=CA2466540258HCFC1c.3667C= (p.Pro1223=)
c.3469C= (p.Pro1157=)
c.2758C= (p.Pro920=)
Xg.153954732G>TCA415119930HCFC1c.3667C>A (p.Pro1223Thr)
c.3469C>A (p.Pro1157Thr)
c.2758C>A (p.Pro920Thr)
Xg.153954733G>ACA519702571HCFC1c.3666C>T (p.Ser1222=)
c.3468C>T (p.Ser1156=)
c.2757C>T (p.Ser919=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.153954733G>CCA415119936HCFC1c.3666C>G (p.Ser1222Arg)
c.3468C>G (p.Ser1156Arg)
c.2757C>G (p.Ser919Arg)
Xg.153954733G=CA2466540259HCFC1c.3666C= (p.Ser1222=)
c.3468C= (p.Ser1156=)
c.2757C= (p.Ser919=)
Xg.153954733G>TCA415119937HCFC1c.3666C>A (p.Ser1222Arg)
c.3468C>A (p.Ser1156Arg)
c.2757C>A (p.Ser919Arg)
Xg.153954734C>ACA415119939HCFC1c.3665G>T (p.Ser1222Ile)
c.3467G>T (p.Ser1156Ile)
c.2756G>T (p.Ser919Ile)
Xg.153954734C>GCA415119941HCFC1c.3665G>C (p.Ser1222Thr)
c.3467G>C (p.Ser1156Thr)
c.2756G>C (p.Ser919Thr)
Xg.153954734C>TCA415119943HCFC1c.3665G>A (p.Ser1222Asn)
c.3467G>A (p.Ser1156Asn)
c.2756G>A (p.Ser919Asn)
 gnomAD v4
Xg.153954735T>ACA415119945HCFC1c.3664A>T (p.Ser1222Cys)
c.3466A>T (p.Ser1156Cys)
c.2755A>T (p.Ser919Cys)
Xg.153954735T>CCA415119947HCFC1c.3664A>G (p.Ser1222Gly)
c.3466A>G (p.Ser1156Gly)
c.2755A>G (p.Ser919Gly)
 gnomAD v4
Xg.153954735T>GCA415119949HCFC1c.3664A>C (p.Ser1222Arg)
c.3466A>C (p.Ser1156Arg)
c.2755A>C (p.Ser919Arg)
Xg.153954736G>ACA519702576HCFC1c.3663C>T (p.Ser1221=)
c.3465C>T (p.Ser1155=)
c.2754C>T (p.Ser918=)
 gnomAD v4
Xg.153954736G>CCA415119950HCFC1c.3663C>G (p.Ser1221Arg)
c.3465C>G (p.Ser1155Arg)
c.2754C>G (p.Ser918Arg)
Xg.153954736G>TCA415119952HCFC1c.3663C>A (p.Ser1221Arg)
c.3465C>A (p.Ser1155Arg)
c.2754C>A (p.Ser918Arg)
Xg.153954737C>ACA415119954HCFC1c.3662G>T (p.Ser1221Ile)
c.3464G>T (p.Ser1155Ile)
c.2753G>T (p.Ser918Ile)
Xg.153954737C>GCA415119956HCFC1c.3662G>C (p.Ser1221Thr)
c.3464G>C (p.Ser1155Thr)
c.2753G>C (p.Ser918Thr)
Xg.153954737C>TCA415119957HCFC1c.3662G>A (p.Ser1221Asn)
c.3464G>A (p.Ser1155Asn)
c.2753G>A (p.Ser918Asn)
 gnomAD v4
Xg.153954738T>ACA415119960HCFC1c.3661A>T (p.Ser1221Cys)
c.3463A>T (p.Ser1155Cys)
c.2752A>T (p.Ser918Cys)
Xg.153954738T>CCA415119959HCFC1c.3661A>G (p.Ser1221Gly)
c.3463A>G (p.Ser1155Gly)
c.2752A>G (p.Ser918Gly)
Xg.153954738T>GCA415119958HCFC1c.3661A>C (p.Ser1221Arg)
c.3463A>C (p.Ser1155Arg)
c.2752A>C (p.Ser918Arg)
Xg.153954739C>ACA519702581HCFC1c.3660G>T (p.Leu1220=)
c.3462G>T (p.Leu1154=)
c.2751G>T (p.Leu917=)
 gnomAD v4
Xg.153954739C>GCA519702582HCFC1c.3660G>C (p.Leu1220=)
c.3462G>C (p.Leu1154=)
c.2751G>C (p.Leu917=)
Xg.153954739C>TCA519702583HCFC1c.3660G>A (p.Leu1220=)
c.3462G>A (p.Leu1154=)
c.2751G>A (p.Leu917=)
 gnomAD v4
Xg.153954740A>CCA415119962HCFC1c.3659T>G (p.Leu1220Arg)
c.3461T>G (p.Leu1154Arg)
c.2750T>G (p.Leu917Arg)
Xg.153954740A>GCA415119964HCFC1c.3659T>C (p.Leu1220Pro)
c.3461T>C (p.Leu1154Pro)
c.2750T>C (p.Leu917Pro)
Xg.153954740A>TCA415119965HCFC1c.3659T>A (p.Leu1220Gln)
c.3461T>A (p.Leu1154Gln)
c.2750T>A (p.Leu917Gln)
Xg.153954741G>ACA519702587HCFC1c.3658C>T (p.Leu1220=)
c.3460C>T (p.Leu1154=)
c.2749C>T (p.Leu917=)
 ClinVar
Xg.153954741G>CCA415119967HCFC1c.3658C>G (p.Leu1220Val)
c.3460C>G (p.Leu1154Val)
c.2749C>G (p.Leu917Val)
Xg.153954741G>TCA415119969HCFC1c.3658C>A (p.Leu1220Met)
c.3460C>A (p.Leu1154Met)
c.2749C>A (p.Leu917Met)
Xg.153954742C>ACA415119971HCFC1c.3657G>T (p.Arg1219Ser)
c.3459G>T (p.Arg1153Ser)
c.2748G>T (p.Arg916Ser)
 gnomAD v4
Xg.153954742C>GCA415119972HCFC1c.3657G>C (p.Arg1219Ser)
c.3459G>C (p.Arg1153Ser)
c.2748G>C (p.Arg916Ser)
Xg.153954742C>TCA519702591HCFC1c.3657G>A (p.Arg1219=)
c.3459G>A (p.Arg1153=)
c.2748G>A (p.Arg916=)
Xg.153954743C>ACA415119975HCFC1c.3656G>T (p.Arg1219Met)
c.3458G>T (p.Arg1153Met)
c.2747G>T (p.Arg916Met)
Xg.153954743C=CA2466540260HCFC1c.3656G= (p.Arg1219=)
c.3458G= (p.Arg1153=)
c.2747G= (p.Arg916=)
Xg.153954743C>GCA415119976HCFC1c.3656G>C (p.Arg1219Thr)
c.3458G>C (p.Arg1153Thr)
c.2747G>C (p.Arg916Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.153954743C>TCA415119977HCFC1c.3656G>A (p.Arg1219Lys)
c.3458G>A (p.Arg1153Lys)
c.2747G>A (p.Arg916Lys)
 gnomAD v4
Xg.153954744T>ACA415119979HCFC1c.3655A>T (p.Arg1219Trp)
c.3457A>T (p.Arg1153Trp)
c.2746A>T (p.Arg916Trp)
Xg.153954744T>CCA415119981HCFC1c.3655A>G (p.Arg1219Gly)
c.3457A>G (p.Arg1153Gly)
c.2746A>G (p.Arg916Gly)
 gnomAD v4
Xg.153954744T>GCA519702595HCFC1c.3655A>C (p.Arg1219=)
c.3457A>C (p.Arg1153=)
c.2746A>C (p.Arg916=)
Xg.153954745G>ACA519702597HCFC1c.3654C>T (p.Val1218=)
c.3456C>T (p.Val1152=)
c.2745C>T (p.Val915=)
Xg.153954745G>CCA519702599HCFC1c.3654C>G (p.Val1218=)
c.3456C>G (p.Val1152=)
c.2745C>G (p.Val915=)
 gnomAD v4
Xg.153954745G>TCA519702601HCFC1c.3654C>A (p.Val1218=)
c.3456C>A (p.Val1152=)
c.2745C>A (p.Val915=)
 gnomAD v4
Xg.153954746A>CCA415119983HCFC1c.3653T>G (p.Val1218Gly)
c.3455T>G (p.Val1152Gly)
c.2744T>G (p.Val915Gly)
Xg.153954746A>GCA415119986HCFC1c.3653T>C (p.Val1218Ala)
c.3455T>C (p.Val1152Ala)
c.2744T>C (p.Val915Ala)
Xg.153954746A>TCA415119984HCFC1c.3653T>A (p.Val1218Asp)
c.3455T>A (p.Val1152Asp)
c.2744T>A (p.Val915Asp)
Xg.153954747C>ACA415119989HCFC1c.3652G>T (p.Val1218Phe)
c.3454G>T (p.Val1152Phe)
c.2743G>T (p.Val915Phe)
Xg.153954747C=CA2466540261HCFC1c.3652G= (p.Val1218=)
c.3454G= (p.Val1152=)
c.2743G= (p.Val915=)
Xg.153954747C>GCA415119990HCFC1c.3652G>C (p.Val1218Leu)
c.3454G>C (p.Val1152Leu)
c.2743G>C (p.Val915Leu)
Xg.153954747C>TCA415119992HCFC1c.3652G>A (p.Val1218Ile)
c.3454G>A (p.Val1152Ile)
c.2743G>A (p.Val915Ile)
 dbSNP gnomAD v2
Xg.153954748T>ACA415119994HCFC1c.3651A>T (p.Lys1217Asn)
c.3453A>T (p.Lys1151Asn)
c.2742A>T (p.Lys914Asn)
Xg.153954748T>CCA519702602HCFC1c.3651A>G (p.Lys1217=)
c.3453A>G (p.Lys1151=)
c.2742A>G (p.Lys914=)
Xg.153954748T>GCA415119996HCFC1c.3651A>C (p.Lys1217Asn)
c.3453A>C (p.Lys1151Asn)
c.2742A>C (p.Lys914Asn)
Xg.153954749T>ACA415119997HCFC1c.3650A>T (p.Lys1217Ile)
c.3452A>T (p.Lys1151Ile)
c.2741A>T (p.Lys914Ile)
Xg.153954749T>CCA10557159HCFC1c.3650A>G (p.Lys1217Arg)
c.3452A>G (p.Lys1151Arg)
c.2741A>G (p.Lys914Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954749T>GCA415120000HCFC1c.3650A>C (p.Lys1217Thr)
c.3452A>C (p.Lys1151Thr)
c.2741A>C (p.Lys914Thr)
Xg.153954749T=CA2466540262HCFC1c.3650A= (p.Lys1217=)
c.3452A= (p.Lys1151=)
c.2741A= (p.Lys914=)
Xg.153954750T>ACA415120001HCFC1c.3649A>T (p.Lys1217Ter)
c.3451A>T (p.Lys1151Ter)
c.2740A>T (p.Lys914Ter)
Xg.153954750T>CCA415120003HCFC1c.3649A>G (p.Lys1217Glu)
c.3451A>G (p.Lys1151Glu)
c.2740A>G (p.Lys914Glu)
Xg.153954750T>GCA415120005HCFC1c.3649A>C (p.Lys1217Gln)
c.3451A>C (p.Lys1151Gln)
c.2740A>C (p.Lys914Gln)
Xg.153954751G>ACA519702609HCFC1c.3648C>T (p.Ser1216=)
c.3450C>T (p.Ser1150=)
c.2739C>T (p.Ser913=)
Xg.153954751G>CCA415120010HCFC1c.3648C>G (p.Ser1216Arg)
c.3450C>G (p.Ser1150Arg)
c.2739C>G (p.Ser913Arg)
 gnomAD v4
Xg.153954751G>TCA415120008HCFC1c.3648C>A (p.Ser1216Arg)
c.3450C>A (p.Ser1150Arg)
c.2739C>A (p.Ser913Arg)
Xg.153954752C>ACA415120013HCFC1c.3647G>T (p.Ser1216Ile)
c.3449G>T (p.Ser1150Ile)
c.2738G>T (p.Ser913Ile)
Xg.153954752C>GCA415120021HCFC1c.3647G>C (p.Ser1216Thr)
c.3449G>C (p.Ser1150Thr)
c.2738G>C (p.Ser913Thr)
Xg.153954752C>TCA415120026HCFC1c.3647G>A (p.Ser1216Asn)
c.3449G>A (p.Ser1150Asn)
c.2738G>A (p.Ser913Asn)
 gnomAD v4

Number of alleles fetched