UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.42194649_42194650delinsTG | CA2573140841 | GUCA1B | c.171_172delinsCA (p.Val58Ile) c.4-5919_4-5918delinsCA (n.4-5919_4-5918delinsCA) | ClinVar |
| 6 | g.42194650A= | CA1623960770 | GUCA1B | c.171T= (p.Tyr57=) c.4-5919T= (n.4-5919T=) | |
| 6 | g.42194650A>C | CA364113840 | GUCA1B | c.171T>G (p.Tyr57Ter) c.4-5919T>G (n.4-5919T>G) | |
| 6 | g.42194650A>G | CA3805636 | GUCA1B | c.171T>C (p.Tyr57=) c.4-5919T>C (n.4-5919T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.42194650A>T | CA364113839 | GUCA1B | c.171T>A (p.Tyr57Ter) c.4-5919T>A (n.4-5919T>A) | dbSNP gnomAD v4 |
| 6 | g.42194651T>A | CA364113841 | GUCA1B | c.170A>T (p.Tyr57Phe) c.4-5920A>T (n.4-5920A>T) | |
| 6 | g.42194651T>C | CA364113842 | GUCA1B | c.170A>G (p.Tyr57Cys) c.4-5920A>G (n.4-5920A>G) | |
| 6 | g.42194651T>G | CA364113843 | GUCA1B | c.170A>C (p.Tyr57Ser) c.4-5920A>C (n.4-5920A>C) | |
| 6 | g.42194652A>C | CA364113844 | GUCA1B | c.169T>G (p.Tyr57Asp) c.4-5921T>G (n.4-5921T>G) | |
| 6 | g.42194652A>G | CA364113845 | GUCA1B | c.169T>C (p.Tyr57His) c.4-5921T>C (n.4-5921T>C) | |
| 6 | g.42194652A>T | CA364113846 | GUCA1B | c.169T>A (p.Tyr57Asn) c.4-5921T>A (n.4-5921T>A) | |
| 6 | g.42194653C>A | CA364113847 | GUCA1B | c.168G>T (p.Gln56His) c.4-5922G>T (n.4-5922G>T) | |
| 6 | g.42194653C= | CA1623960772 | GUCA1B | c.168G= (p.Gln56=) c.4-5922G= (n.4-5922G=) | |
| 6 | g.42194653C>G | CA364113848 | GUCA1B | c.168G>C (p.Gln56His) c.4-5922G>C (n.4-5922G>C) | gnomAD v4 |
| 6 | g.42194653C>T | CA3805637 | GUCA1B | c.168G>A (p.Gln56=) c.4-5922G>A (n.4-5922G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.42194654T>A | CA364113849 | GUCA1B | c.167A>T (p.Gln56Leu) c.4-5923A>T (n.4-5923A>T) | |
| 6 | g.42194654T>C | CA3805638 | GUCA1B | c.167A>G (p.Gln56Arg) c.4-5923A>G (n.4-5923A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.42194654T>G | CA364113850 | GUCA1B | c.167A>C (p.Gln56Pro) c.4-5923A>C (n.4-5923A>C) | |
| 6 | g.42194654T= | CA1623960774 | GUCA1B | c.167A= (p.Gln56=) c.4-5923A= (n.4-5923A=) | |
| 6 | g.42194655G>A | CA364113851 | GUCA1B | c.166C>T (p.Gln56Ter) c.4-5924C>T (n.4-5924C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.42194655G>C | CA364113852 | GUCA1B | c.166C>G (p.Gln56Glu) c.4-5924C>G (n.4-5924C>G) | |
| 6 | g.42194655G= | CA1623960776 | GUCA1B | c.166C= (p.Gln56=) c.4-5924C= (n.4-5924C=) | |
| 6 | g.42194655G>T | CA364113853 | GUCA1B | c.166C>A (p.Gln56Lys) c.4-5924C>A (n.4-5924C>A) | |
| 6 | g.42194656G>A | CA450360688 | GUCA1B | c.165C>T (p.Ser55=) c.4-5925C>T (n.4-5925C>T) | gnomAD v4 |
| 6 | g.42194656G>C | CA450360690 | GUCA1B | c.165C>G (p.Ser55=) c.4-5925C>G (n.4-5925C>G) | |
| 6 | g.42194656G>T | CA450360691 | GUCA1B | c.165C>A (p.Ser55=) c.4-5925C>A (n.4-5925C>A) | |
| 6 | g.42194657G>A | CA364113854 | GUCA1B | c.164C>T (p.Ser55Phe) c.4-5926C>T (n.4-5926C>T) | gnomAD v4 COSMIC |
| 6 | g.42194657G>C | CA364113855 | GUCA1B | c.164C>G (p.Ser55Cys) c.4-5926C>G (n.4-5926C>G) | |
| 6 | g.42194657G>T | CA364113856 | GUCA1B | c.164C>A (p.Ser55Tyr) c.4-5926C>A (n.4-5926C>A) | |
| 6 | g.42194657_42194658delinsGA | CA1623960778 | GUCA1B | c.163_164delinsTC (p.Ser55=) c.4-5927_4-5926delinsTC (n.4-5927_4-5926delinsTC) | |
| 6 | g.42194658del | CA567149198 | GUCA1B | c.163del (p.Ser55ProfsTer4) c.4-5927del (n.4-5927del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.42194658A>C | CA364113857 | GUCA1B | c.163T>G (p.Ser55Ala) c.4-5927T>G (n.4-5927T>G) | |
| 6 | g.42194658A>G | CA364113858 | GUCA1B | c.163T>C (p.Ser55Pro) c.4-5927T>C (n.4-5927T>C) | |
| 6 | g.42194658A>T | CA364113859 | GUCA1B | c.163T>A (p.Ser55Thr) c.4-5927T>A (n.4-5927T>A) | |
| 6 | g.42194659G>A | CA450360693 | GUCA1B | c.162C>T (p.Ala54=) c.4-5928C>T (n.4-5928C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.42194659G>C | CA450360695 | GUCA1B | c.162C>G (p.Ala54=) c.4-5928C>G (n.4-5928C>G) | |
| 6 | g.42194659G= | CA1623960782 | GUCA1B | c.162C= (p.Ala54=) c.4-5928C= (n.4-5928C=) | |
| 6 | g.42194659G>T | CA450360698 | GUCA1B | c.162C>A (p.Ala54=) c.4-5928C>A (n.4-5928C>A) | |
| 6 | g.42194660del | CA2678753048 | GUCA1B | c.162del (p.Ser55ProfsTer4) c.4-5928del (n.4-5928del) | gnomAD v4 |
| 6 | g.42194660G>A | CA364113862 | GUCA1B | c.161C>T (p.Ala54Val) c.4-5929C>T (n.4-5929C>T) | |
| 6 | g.42194660G>C | CA364113860 | GUCA1B | c.161C>G (p.Ala54Gly) c.4-5929C>G (n.4-5929C>G) | |
| 6 | g.42194660G>T | CA364113861 | GUCA1B | c.161C>A (p.Ala54Asp) c.4-5929C>A (n.4-5929C>A) | |
| 6 | g.42194660_42194663delinsGCCT | CA1623960785 | GUCA1B | c.158_161delinsAGGC (p.Glu53=) c.4-5932_4-5929delinsAGGC (n.4-5932_4-5929delinsAGGC) | |
| 6 | g.42194661C>A | CA364113863 | GUCA1B | c.160G>T (p.Ala54Ser) c.4-5930G>T (n.4-5930G>T) | gnomAD v4 COSMIC |
| 6 | g.42194661C>G | CA364113864 | GUCA1B | c.160G>C (p.Ala54Pro) c.4-5930G>C (n.4-5930G>C) | |
| 6 | g.42194661C>T | CA364113865 | GUCA1B | c.160G>A (p.Ala54Thr) c.4-5930G>A (n.4-5930G>A) | |
| 6 | g.42194662del | CA2678753049 | GUCA1B | c.160del (p.Ala54ProfsTer5) c.4-5930del (n.4-5930del) | gnomAD v4 |
| 6 | g.42194665_42194667del | CA567149199 | GUCA1B | c.158_160del (p.Glu53del) c.4-5932_4-5930del (n.4-5932_4-5930del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.42194662C>A | CA364113866 | GUCA1B | c.159G>T (p.Glu53Asp) c.4-5931G>T (n.4-5931G>T) | |
| 6 | g.42194662C>G | CA364113867 | GUCA1B | c.159G>C (p.Glu53Asp) c.4-5931G>C (n.4-5931G>C) | |
| 6 | g.42194662C>T | CA450360703 | GUCA1B | c.159G>A (p.Glu53=) c.4-5931G>A (n.4-5931G>A) | gnomAD v4 |
| 6 | g.42194663T>A | CA364113868 | GUCA1B | c.158A>T (p.Glu53Val) c.4-5932A>T (n.4-5932A>T) | gnomAD v4 |
| 6 | g.42194663T>C | CA364113869 | GUCA1B | c.158A>G (p.Glu53Gly) c.4-5932A>G (n.4-5932A>G) | |
| 6 | g.42194663T>G | CA364113870 | GUCA1B | c.158A>C (p.Glu53Ala) c.4-5932A>C (n.4-5932A>C) | |
| 6 | g.42194664C>A | CA364113871 | GUCA1B | c.157G>T (p.Glu53Ter) c.4-5933G>T (n.4-5933G>T) | |
| 6 | g.42194664C>G | CA364113872 | GUCA1B | c.157G>C (p.Glu53Gln) c.4-5933G>C (n.4-5933G>C) | |
| 6 | g.42194664C>T | CA364113873 | GUCA1B | c.157G>A (p.Glu53Lys) c.4-5933G>A (n.4-5933G>A) | |
| 6 | g.42194665C>A | CA364113874 | GUCA1B | c.156G>T (p.Glu52Asp) c.4-5934G>T (n.4-5934G>T) | |
| 6 | g.42194665C>G | CA364113875 | GUCA1B | c.156G>C (p.Glu52Asp) c.4-5934G>C (n.4-5934G>C) | |
| 6 | g.42194665C>T | CA450360706 | GUCA1B | c.156G>A (p.Glu52=) c.4-5934G>A (n.4-5934G>A) | |
| 6 | g.42194665_42194668delinsCTCA | CA1623960788 | GUCA1B | c.153_156delinsTGAG (p.Asp51=) c.4-5937_4-5934delinsTGAG (n.4-5937_4-5934delinsTGAG) | |
| 6 | g.42194666T>A | CA364113878 | GUCA1B | c.155A>T (p.Glu52Val) c.4-5935A>T (n.4-5935A>T) | |
| 6 | g.42194666T>C | CA364113876 | GUCA1B | c.155A>G (p.Glu52Gly) c.4-5935A>G (n.4-5935A>G) | gnomAD v4 |
| 6 | g.42194666T>G | CA364113877 | GUCA1B | c.155A>C (p.Glu52Ala) c.4-5935A>C (n.4-5935A>C) | |
| 6 | g.42194668_42194670del | CA567149200 | GUCA1B | c.153_155del (p.Asp51del) c.4-5937_4-5935del (n.4-5937_4-5935del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.42194667C>A | CA364113879 | GUCA1B | c.154G>T (p.Glu52Ter) c.4-5936G>T (n.4-5936G>T) | |
| 6 | g.42194667C>G | CA364113880 | GUCA1B | c.154G>C (p.Glu52Gln) c.4-5936G>C (n.4-5936G>C) | |
| 6 | g.42194667C>T | CA364113881 | GUCA1B | c.154G>A (p.Glu52Lys) c.4-5936G>A (n.4-5936G>A) | |
| 6 | g.42194668A= | CA1623960791 | GUCA1B | c.153T= (p.Asp51=) c.4-5937T= (n.4-5937T=) | |
| 6 | g.42194668A>C | CA364113882 | GUCA1B | c.153T>G (p.Asp51Glu) c.4-5937T>G (n.4-5937T>G) | gnomAD v4 |
| 6 | g.42194668A>G | CA3805639 | GUCA1B | c.153T>C (p.Asp51=) c.4-5937T>C (n.4-5937T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.42194668A>T | CA364113883 | GUCA1B | c.153T>A (p.Asp51Glu) c.4-5937T>A (n.4-5937T>A) | |
| 6 | g.42194669T>A | CA364113884 | GUCA1B | c.152A>T (p.Asp51Val) c.4-5938A>T (n.4-5938A>T) | |
| 6 | g.42194669T>C | CA364113885 | GUCA1B | c.152A>G (p.Asp51Gly) c.4-5938A>G (n.4-5938A>G) | |
| 6 | g.42194669T>G | CA364113886 | GUCA1B | c.152A>C (p.Asp51Ala) c.4-5938A>C (n.4-5938A>C) | |
| 6 | g.42194670C>A | CA364113887 | GUCA1B | c.151G>T (p.Asp51Tyr) c.4-5939G>T (n.4-5939G>T) | COSMIC |
| 6 | g.42194670C= | CA1623960796 | GUCA1B | c.151G= (p.Asp51=) c.4-5939G= (n.4-5939G=) | |
| 6 | g.42194670C>G | CA364113888 | GUCA1B | c.151G>C (p.Asp51His) c.4-5939G>C (n.4-5939G>C) | |
| 6 | g.42194670C>T | CA364113889 | GUCA1B | c.151G>A (p.Asp51Asn) c.4-5939G>A (n.4-5939G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.42194671G>A | CA3805640 | GUCA1B | c.150C>T (p.Asp50=) c.4-5940C>T (n.4-5940C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.42194671G>C | CA364113891 | GUCA1B | c.150C>G (p.Asp50Glu) c.4-5940C>G (n.4-5940C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.42194671G= | CA1623960803 | GUCA1B | c.150C= (p.Asp50=) c.4-5940C= (n.4-5940C=) | |
| 6 | g.42194671G>T | CA364113890 | GUCA1B | c.150C>A (p.Asp50Glu) c.4-5940C>A (n.4-5940C>A) | gnomAD v4 |
| 6 | g.42194672T>A | CA364113892 | GUCA1B | c.149A>T (p.Asp50Val) c.4-5941A>T (n.4-5941A>T) | |
| 6 | g.42194672T>C | CA364113893 | GUCA1B | c.149A>G (p.Asp50Gly) c.4-5941A>G (n.4-5941A>G) | |
| 6 | g.42194672T>G | CA364113894 | GUCA1B | c.149A>C (p.Asp50Ala) c.4-5941A>C (n.4-5941A>C) | |
| 6 | g.42194673C>A | CA364113895 | GUCA1B | c.148G>T (p.Asp50Tyr) c.4-5942G>T (n.4-5942G>T) | |
| 6 | g.42194673C>G | CA364113896 | GUCA1B | c.148G>C (p.Asp50His) c.4-5942G>C (n.4-5942G>C) | |
| 6 | g.42194673C>T | CA364113897 | GUCA1B | c.148G>A (p.Asp50Asn) c.4-5942G>A (n.4-5942G>A) | gnomAD v4 |
| 6 | g.42194673_42194675delinsCTG | CA1623960806 | GUCA1B | c.146_148delinsCAG (p.Thr49=) c.4-5944_4-5942delinsCAG (n.4-5944_4-5942delinsCAG) | |
| 6 | g.42194674T>A | CA450360714 | GUCA1B | c.147A>T (p.Thr49=) c.4-5943A>T (n.4-5943A>T) | |
| 6 | g.42194674T>C | CA450360715 | GUCA1B | c.147A>G (p.Thr49=) c.4-5943A>G (n.4-5943A>G) | gnomAD v4 |
| 6 | g.42194674T>G | CA450360716 | GUCA1B | c.147A>C (p.Thr49=) c.4-5943A>C (n.4-5943A>C) | |
| 6 | g.42194676_42194677del | CA824809022 | GUCA1B | c.146_147del (p.Thr49ArgfsTer3) c.4-5944_4-5943del (n.4-5944_4-5943del) | ClinVar dbSNP gnomAD v4 |
| 6 | g.42194674_42194675insCTC | CA2524622030 | GUCA1B | c.146_147insGAG (p.Thr49_Asp50insArg) c.4-5944_4-5943insGAG (n.4-5944_4-5943insGAG) | |
| 6 | g.42194675G>A | CA364113898 | GUCA1B | c.146C>T (p.Thr49Ile) c.4-5944C>T (n.4-5944C>T) | |
| 6 | g.42194675G>C | CA364113899 | GUCA1B | c.146C>G (p.Thr49Arg) c.4-5944C>G (n.4-5944C>G) | |
| 6 | g.42194675G>T | CA364113900 | GUCA1B | c.146C>A (p.Thr49Lys) c.4-5944C>A (n.4-5944C>A) | |
| 6 | g.42194676T>A | CA364113901 | GUCA1B | c.145A>T (p.Thr49Ser) c.4-5945A>T (n.4-5945A>T) | |
| 6 | g.42194676T>C | CA364113902 | GUCA1B | c.145A>G (p.Thr49Ala) c.4-5945A>G (n.4-5945A>G) | ClinVar dbSNP gnomAD v4 |
| 6 | g.42194676T>G | CA364113903 | GUCA1B | c.145A>C (p.Thr49Pro) c.4-5945A>C (n.4-5945A>C) | |
| 6 | g.42194676T= | CA1623960809 | GUCA1B | c.145A= (p.Thr49=) c.4-5945A= (n.4-5945A=) | |
| 6 | g.42194677G>A | CA3805641 | GUCA1B | c.144C>T (p.Val48=) c.4-5946C>T (n.4-5946C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.42194677G>C | CA450360722 | GUCA1B | c.144C>G (p.Val48=) c.4-5946C>G (n.4-5946C>G) | |
| 6 | g.42194677G= | CA1623960812 | GUCA1B | c.144C= (p.Val48=) c.4-5946C= (n.4-5946C=) | |
| 6 | g.42194677G>T | CA450360725 | GUCA1B | c.144C>A (p.Val48=) c.4-5946C>A (n.4-5946C>A) | |
| 6 | g.42194678A>C | CA364113906 | GUCA1B | c.143T>G (p.Val48Gly) c.4-5947T>G (n.4-5947T>G) | |
| 6 | g.42194678A>G | CA364113905 | GUCA1B | c.143T>C (p.Val48Ala) c.4-5947T>C (n.4-5947T>C) | |
| 6 | g.42194678A>T | CA364113904 | GUCA1B | c.143T>A (p.Val48Asp) c.4-5947T>A (n.4-5947T>A) | |
| 6 | g.42194679C>A | CA364113907 | GUCA1B | c.142G>T (p.Val48Phe) c.4-5948G>T (n.4-5948G>T) | |
| 6 | g.42194679C>G | CA364113908 | GUCA1B | c.142G>C (p.Val48Leu) c.4-5948G>C (n.4-5948G>C) | |
| 6 | g.42194679C>T | CA364113909 | GUCA1B | c.142G>A (p.Val48Ile) c.4-5948G>A (n.4-5948G>A) | |
| 6 | g.42194680C>A | CA138152885 | GUCA1B | c.141G>T (p.Lys47Asn) c.4-5949G>T (n.4-5949G>T) | dbSNP |
| 6 | g.42194680C= | CA1623960815 | GUCA1B | c.141G= (p.Lys47=) c.4-5949G= (n.4-5949G=) | |
| 6 | g.42194680C>G | CA364113910 | GUCA1B | c.141G>C (p.Lys47Asn) c.4-5949G>C (n.4-5949G>C) | |
| 6 | g.42194680C>T | CA450360730 | GUCA1B | c.141G>A (p.Lys47=) c.4-5949G>A (n.4-5949G>A) | |
| 6 | g.42194681T>A | CA364113911 | GUCA1B | c.140A>T (p.Lys47Met) c.4-5950A>T (n.4-5950A>T) | |
| 6 | g.42194681T>C | CA364113912 | GUCA1B | c.140A>G (p.Lys47Arg) c.4-5950A>G (n.4-5950A>G) | |
| 6 | g.42194681T>G | CA364113913 | GUCA1B | c.140A>C (p.Lys47Thr) c.4-5950A>C (n.4-5950A>C) | |
| 6 | g.42194682T>A | CA364113914 | GUCA1B | c.139A>T (p.Lys47Ter) c.4-5951A>T (n.4-5951A>T) | |
| 6 | g.42194682T>C | CA364113915 | GUCA1B | c.139A>G (p.Lys47Glu) c.4-5951A>G (n.4-5951A>G) | |
| 6 | g.42194682T>G | CA364113916 | GUCA1B | c.139A>C (p.Lys47Gln) c.4-5951A>C (n.4-5951A>C) | |
| 6 | g.42194683G>A | CA450360735 | GUCA1B | c.138C>T (p.Phe46=) c.4-5952C>T (n.4-5952C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.42194683G>C | CA364113917 | GUCA1B | c.138C>G (p.Phe46Leu) c.4-5952C>G (n.4-5952C>G) | |
| 6 | g.42194683G= | CA1623960819 | GUCA1B | c.138C= (p.Phe46=) c.4-5952C= (n.4-5952C=) | |
| 6 | g.42194683G>T | CA364113918 | GUCA1B | c.138C>A (p.Phe46Leu) c.4-5952C>A (n.4-5952C>A) | gnomAD v4 |
| 6 | g.42194687_42194689del | CA2578617432 | GUCA1B | c.136_138del (p.Phe46del) c.4-5954_4-5952del (n.4-5954_4-5952del) | |
| 6 | g.42194684A>C | CA364113920 | GUCA1B | c.137T>G (p.Phe46Cys) c.4-5953T>G (n.4-5953T>G) | |
| 6 | g.42194684A>G | CA364113921 | GUCA1B | c.137T>C (p.Phe46Ser) c.4-5953T>C (n.4-5953T>C) | |
| 6 | g.42194684A>T | CA364113919 | GUCA1B | c.137T>A (p.Phe46Tyr) c.4-5953T>A (n.4-5953T>A) | ClinVar dbSNP gnomAD v4 |
| 6 | g.42194685A= | CA1623960821 | GUCA1B | c.136T= (p.Phe46=) c.4-5954T= (n.4-5954T=) | |
| 6 | g.42194685A>C | CA364113922 | GUCA1B | c.136T>G (p.Phe46Val) c.4-5954T>G (n.4-5954T>G) | gnomAD v4 |
| 6 | g.42194685A>G | CA364113923 | GUCA1B | c.136T>C (p.Phe46Leu) c.4-5954T>C (n.4-5954T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.42194685A>T | CA364113924 | GUCA1B | c.136T>A (p.Phe46Ile) c.4-5954T>A (n.4-5954T>A) | |
| 6 | g.42194686G>A | CA450360742 | GUCA1B | c.135C>T (p.Phe45=) c.4-5955C>T (n.4-5955C>T) | gnomAD v4 |
| 6 | g.42194686G>C | CA364113925 | GUCA1B | c.135C>G (p.Phe45Leu) c.4-5955C>G (n.4-5955C>G) | |
| 6 | g.42194686G>T | CA364113926 | GUCA1B | c.135C>A (p.Phe45Leu) c.4-5955C>A (n.4-5955C>A) | |
| 6 | g.42194687A>C | CA364113927 | GUCA1B | c.134T>G (p.Phe45Cys) c.4-5956T>G (n.4-5956T>G) | |
| 6 | g.42194687A>G | CA364113928 | GUCA1B | c.134T>C (p.Phe45Ser) c.4-5956T>C (n.4-5956T>C) | |
| 6 | g.42194687A>T | CA364113929 | GUCA1B | c.134T>A (p.Phe45Tyr) c.4-5956T>A (n.4-5956T>A) | |
| 6 | g.42194688A>C | CA364113930 | GUCA1B | c.133T>G (p.Phe45Val) c.4-5957T>G (n.4-5957T>G) | |
| 6 | g.42194688A>G | CA364113931 | GUCA1B | c.133T>C (p.Phe45Leu) c.4-5957T>C (n.4-5957T>C) | |
| 6 | g.42194688A>T | CA364113932 | GUCA1B | c.133T>A (p.Phe45Ile) c.4-5957T>A (n.4-5957T>A) | |
| 6 | g.42194689G>A | CA3805643 | GUCA1B | c.132C>T (p.Arg44=) c.4-5958C>T (n.4-5958C>T) | dbSNP ExAC gnomAD v4 |
| 6 | g.42194689G>C | CA3805642 | GUCA1B | c.132C>G (p.Arg44=) c.4-5958C>G (n.4-5958C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.42194689G= | CA1623960824 | GUCA1B | c.132C= (p.Arg44=) c.4-5958C= (n.4-5958C=) | |
| 6 | g.42194689G>T | CA450360747 | GUCA1B | c.132C>A (p.Arg44=) c.4-5958C>A (n.4-5958C>A) | |
| 6 | g.42194690C>A | CA364113933 | GUCA1B | c.131G>T (p.Arg44Leu) c.4-5959G>T (n.4-5959G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.42194690C= | CA1623960830 | GUCA1B | c.131G= (p.Arg44=) c.4-5959G= (n.4-5959G=) | |
| 6 | g.42194690C>G | CA364113934 | GUCA1B | c.131G>C (p.Arg44Pro) c.4-5959G>C (n.4-5959G>C) | |
| 6 | g.42194690C>T | CA138152891 | GUCA1B | c.131G>A (p.Arg44His) c.4-5959G>A (n.4-5959G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.42194691G>A | CA3805644 | GUCA1B | c.130C>T (p.Arg44Cys) c.4-5960C>T (n.4-5960C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.42194691G>C | CA364113935 | GUCA1B | c.130C>G (p.Arg44Gly) c.4-5960C>G (n.4-5960C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.42194691G= | CA1623960832 | GUCA1B | c.130C= (p.Arg44=) c.4-5960C= (n.4-5960C=) | |
| 6 | g.42194691G>T | CA364113936 | GUCA1B | c.130C>A (p.Arg44Ser) c.4-5960C>A (n.4-5960C>A) | |
| 6 | g.42194692C>A | CA364113937 | GUCA1B | c.129G>T (p.Lys43Asn) c.4-5961G>T (n.4-5961G>T) | |
| 6 | g.42194692C>G | CA364113938 | GUCA1B | c.129G>C (p.Lys43Asn) c.4-5961G>C (n.4-5961G>C) | |
| 6 | g.42194692C>T | CA450360752 | GUCA1B | c.129G>A (p.Lys43=) c.4-5961G>A (n.4-5961G>A) | |
| 6 | g.42194693T>A | CA364113939 | GUCA1B | c.128A>T (p.Lys43Met) c.4-5962A>T (n.4-5962A>T) | |
| 6 | g.42194693T>C | CA364113940 | GUCA1B | c.128A>G (p.Lys43Arg) c.4-5962A>G (n.4-5962A>G) | |
| 6 | g.42194693T>G | CA364113941 | GUCA1B | c.128A>C (p.Lys43Thr) c.4-5962A>C (n.4-5962A>C) | |
| 6 | g.42194694T>A | CA364113942 | GUCA1B | c.127A>T (p.Lys43Ter) c.4-5963A>T (n.4-5963A>T) | |
| 6 | g.42194694T>C | CA364113943 | GUCA1B | c.127A>G (p.Lys43Glu) c.4-5963A>G (n.4-5963A>G) | |
| 6 | g.42194694T>G | CA364113944 | GUCA1B | c.127A>C (p.Lys43Gln) c.4-5963A>C (n.4-5963A>C) | |
| 6 | g.42194695A>C | CA364113946 | GUCA1B | c.126T>G (p.Phe42Leu) c.4-5964T>G (n.4-5964T>G) | |
| 6 | g.42194695A>G | CA450360758 | GUCA1B | c.126T>C (p.Phe42=) c.4-5964T>C (n.4-5964T>C) | |
| 6 | g.42194695A>T | CA364113945 | GUCA1B | c.126T>A (p.Phe42Leu) c.4-5964T>A (n.4-5964T>A) | |
| 6 | g.42194696A>C | CA364113947 | GUCA1B | c.125T>G (p.Phe42Cys) c.4-5965T>G (n.4-5965T>G) | |
| 6 | g.42194696A>G | CA364113948 | GUCA1B | c.125T>C (p.Phe42Ser) c.4-5965T>C (n.4-5965T>C) | |
| 6 | g.42194696A>T | CA364113949 | GUCA1B | c.125T>A (p.Phe42Tyr) c.4-5965T>A (n.4-5965T>A) | |
| 6 | g.42194697A>C | CA364113950 | GUCA1B | c.124T>G (p.Phe42Val) c.4-5966T>G (n.4-5966T>G) | |
| 6 | g.42194697A>G | CA364113951 | GUCA1B | c.124T>C (p.Phe42Leu) c.4-5966T>C (n.4-5966T>C) | dbSNP |
| 6 | g.42194697A>T | CA364113952 | GUCA1B | c.124T>A (p.Phe42Ile) c.4-5966T>A (n.4-5966T>A) | |
| 6 | g.42194697_42194698delinsAC | CA1623960837 | GUCA1B | c.123_124delinsGT (p.Glu41=) c.4-5967_4-5966delinsGT (n.4-5967_4-5966delinsGT) | |
| 6 | g.42194698del | CA567149201 | GUCA1B | c.123del (p.Glu41AspfsTer18) c.4-5967del (n.4-5967del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.42194698C>A | CA364113953 | GUCA1B | c.123G>T (p.Glu41Asp) c.4-5967G>T (n.4-5967G>T) | |
| 6 | g.42194698C= | CA1623960840 | GUCA1B | c.123G= (p.Glu41=) c.4-5967G= (n.4-5967G=) | |
| 6 | g.42194698C>G | CA364113954 | GUCA1B | c.123G>C (p.Glu41Asp) c.4-5967G>C (n.4-5967G>C) | |
| 6 | g.42194698C>T | CA450360763 | GUCA1B | c.123G>A (p.Glu41=) c.4-5967G>A (n.4-5967G>A) | dbSNP |
| 6 | g.42194699T>A | CA364113955 | GUCA1B | c.122A>T (p.Glu41Val) c.4-5968A>T (n.4-5968A>T) | |
| 6 | g.42194699T>C | CA364113957 | GUCA1B | c.122A>G (p.Glu41Gly) c.4-5968A>G (n.4-5968A>G) | |
| 6 | g.42194699T>G | CA364113956 | GUCA1B | c.122A>C (p.Glu41Ala) c.4-5968A>C (n.4-5968A>C) | dbSNP |
| 6 | g.42194699T= | CA1623960843 | GUCA1B | c.122A= (p.Glu41=) c.4-5968A= (n.4-5968A=) | |
| 6 | g.42194700C>A | CA364113958 | GUCA1B | c.121G>T (p.Glu41Ter) c.4-5969G>T (n.4-5969G>T) | |
| 6 | g.42194700C>G | CA364113959 | GUCA1B | c.121G>C (p.Glu41Gln) c.4-5969G>C (n.4-5969G>C) | |
| 6 | g.42194700C>T | CA364113960 | GUCA1B | c.121G>A (p.Glu41Lys) c.4-5969G>A (n.4-5969G>A) | |
| 6 | g.42194700_42194701insTTCGA | CA2541866764 | GUCA1B | c.120_121insTCGAA (p.Glu41SerfsTer20) c.4-5970_4-5969insTCGAA (n.4-5970_4-5969insTCGAA) | |
| 6 | g.42194701A= | CA1623960845 | GUCA1B | c.120T= (p.His40=) c.4-5970T= (n.4-5970T=) | |
| 6 | g.42194701A>C | CA364113961 | GUCA1B | c.120T>G (p.His40Gln) c.4-5970T>G (n.4-5970T>G) | |
| 6 | g.42194701A>G | CA450360770 | GUCA1B | c.120T>C (p.His40=) c.4-5970T>C (n.4-5970T>C) | dbSNP |
| 6 | g.42194701A>T | CA364113962 | GUCA1B | c.120T>A (p.His40Gln) c.4-5970T>A (n.4-5970T>A) | gnomAD v4 |
| 6 | g.42194702T>A | CA364113963 | GUCA1B | c.119A>T (p.His40Leu) c.4-5971A>T (n.4-5971A>T) | gnomAD v4 |
| 6 | g.42194702T>C | CA3805645 | GUCA1B | c.119A>G (p.His40Arg) c.4-5971A>G (n.4-5971A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.42194702T>G | CA364113964 | GUCA1B | c.119A>C (p.His40Pro) c.4-5971A>C (n.4-5971A>C) | |
| 6 | g.42194702T= | CA1623960847 | GUCA1B | c.119A= (p.His40=) c.4-5971A= (n.4-5971A=) | |
| 6 | g.42194702_42194703insTGCCCCGCCAACTTG | CA2506033425 | GUCA1B | c.118_119insCAAGTTGGCGGGGCA (p.His40delinsProSerTrpArgGlyAsn) c.4-5972_4-5971insCAAGTTGGCGGGGCA (n.4-5972_4-5971insCAAGTTGGCGGGGCA) | |
| 6 | g.42194703G>A | CA364113965 | GUCA1B | c.118C>T (p.His40Tyr) c.4-5972C>T (n.4-5972C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.42194703G>C | CA364113966 | GUCA1B | c.118C>G (p.His40Asp) c.4-5972C>G (n.4-5972C>G) | |
| 6 | g.42194703G= | CA1623960849 | GUCA1B | c.118C= (p.His40=) c.4-5972C= (n.4-5972C=) | |
| 6 | g.42194703G>T | CA364113967 | GUCA1B | c.118C>A (p.His40Asn) c.4-5972C>A (n.4-5972C>A) | |
| 6 | g.42194704C>A | CA364113968 | GUCA1B | c.117G>T (p.Met39Ile) c.4-5973G>T (n.4-5973G>T) | |
| 6 | g.42194704C= | CA1623960853 | GUCA1B | c.117G= (p.Met39=) c.4-5973G= (n.4-5973G=) | |
| 6 | g.42194704C>G | CA364113969 | GUCA1B | c.117G>C (p.Met39Ile) c.4-5973G>C (n.4-5973G>C) | |
| 6 | g.42194704C>T | CA3805646 | GUCA1B | c.117G>A (p.Met39Ile) c.4-5973G>A (n.4-5973G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.42194705A>C | CA364113970 | GUCA1B | c.116T>G (p.Met39Arg) c.4-5974T>G (n.4-5974T>G) | |
| 6 | g.42194705A>G | CA364113971 | GUCA1B | c.116T>C (p.Met39Thr) c.4-5974T>C (n.4-5974T>C) | ClinVar |
| 6 | g.42194705A>T | CA364113972 | GUCA1B | c.116T>A (p.Met39Lys) c.4-5974T>A (n.4-5974T>A) | |
| 6 | g.42194705_42194706insCTATCGATGGCAAGAATGTTGAAGTGAATGTAGGCAAATTTGGGCCTTATGTACATTATGGCGATGCTTTTATATCGCTTGCCAAAGGTGAAGATGTGTTTAGCG | CA2527675038 | GUCA1B | c.115_116insCGCTAAACACATCTTCACCTTTGGCAAGCGATATAAAAGCATCGCCATAATGTACATAAGGCCCAAATTTGCCTACATTCACTTCAACATTCTTGCCATCGATAG (p.Met39ThrfsTer17) c.4-5975_4-5974insCGCTAAACACATCTTCACCTTTGGCAAGCGATATAAAAGCATCGCCATAATGTACATAAGGCCCAAATTTGCCTACATTCACTTCAACATTCTTGCCATCGATAG (n.4-5975_4-5974insCGCTAAACACATCTTCACCTTTGGCAAGCGATATAAAAGCATCGCCATAATGTACATAAGGCCCAAATTTGCCTACATTCACTTCAACATTCTTGCCATCGATAG) | |
| 6 | g.42194706T>A | CA364113973 | GUCA1B | c.115A>T (p.Met39Leu) c.4-5975A>T (n.4-5975A>T) | |
| 6 | g.42194706T>C | CA364113974 | GUCA1B | c.115A>G (p.Met39Val) c.4-5975A>G (n.4-5975A>G) | gnomAD v4 |
| 6 | g.42194706T>G | CA364113975 | GUCA1B | c.115A>C (p.Met39Leu) c.4-5975A>C (n.4-5975A>C) | |
| 6 | g.42194706_42194710delinsTAAAG | CA1623960856 | GUCA1B | c.111_115delinsCTTTA (p.Leu37=) c.4-5979_4-5975delinsCTTTA (n.4-5979_4-5975delinsCTTTA) | |
| 6 | g.42194707A= | CA1623960860 | GUCA1B | c.114T= (p.Phe38=) c.4-5976T= (n.4-5976T=) | |
| 6 | g.42194707A>C | CA364113977 | GUCA1B | c.114T>G (p.Phe38Leu) c.4-5976T>G (n.4-5976T>G) | |
| 6 | g.42194707A>G | CA450360781 | GUCA1B | c.114T>C (p.Phe38=) c.4-5976T>C (n.4-5976T>C) | |
| 6 | g.42194707A>T | CA364113976 | GUCA1B | c.114T>A (p.Phe38Leu) c.4-5976T>A (n.4-5976T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.42194708_42194711del | CA3805647 | GUCA1B | c.111_114del (p.Phe38CysfsTer20) c.4-5979_4-5976del (n.4-5979_4-5976del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.42194708A>C | CA364113978 | GUCA1B | c.113T>G (p.Phe38Cys) c.4-5977T>G (n.4-5977T>G) | |
| 6 | g.42194708A>G | CA364113979 | GUCA1B | c.113T>C (p.Phe38Ser) c.4-5977T>C (n.4-5977T>C) | gnomAD v4 |
| 6 | g.42194708A>T | CA364113980 | GUCA1B | c.113T>A (p.Phe38Tyr) c.4-5977T>A (n.4-5977T>A) | |
| 6 | g.42194709A= | CA1623960864 | GUCA1B | c.112T= (p.Phe38=) c.4-5978T= (n.4-5978T=) | |
| 6 | g.42194709A>C | CA364113981 | GUCA1B | c.112T>G (p.Phe38Val) c.4-5978T>G (n.4-5978T>G) | |
| 6 | g.42194709A>G | CA138152899 | GUCA1B | c.112T>C (p.Phe38Leu) c.4-5978T>C (n.4-5978T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.42194709A>T | CA364113982 | GUCA1B | c.112T>A (p.Phe38Ile) c.4-5978T>A (n.4-5978T>A) | |
| 6 | g.42194711_42194712del | CA450360785 | GUCA1B | c.111_112del (p.Phe38TyrfsTer3) c.4-5979_4-5978del (n.4-5979_4-5978del) | |
| 6 | g.42194710G>A | CA138152910 | GUCA1B | c.111C>T (p.Leu37=) c.4-5979C>T (n.4-5979C>T) | dbSNP gnomAD v4 |
| 6 | g.42194710G>C | CA450360789 | GUCA1B | c.111C>G (p.Leu37=) c.4-5979C>G (n.4-5979C>G) | dbSNP gnomAD v4 |
| 6 | g.42194710G= | CA1623960869 | GUCA1B | c.111C= (p.Leu37=) c.4-5979C= (n.4-5979C=) | |
| 6 | g.42194710G>T | CA3805648 | GUCA1B | c.111C>A (p.Leu37=) c.4-5979C>A (n.4-5979C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.42194711A= | CA1623960874 | GUCA1B | c.110T= (p.Leu37=) c.4-5980T= (n.4-5980T=) | |
| 6 | g.42194711A>C | CA364113983 | GUCA1B | c.110T>G (p.Leu37Arg) c.4-5980T>G (n.4-5980T>G) | |
| 6 | g.42194711A>G | CA364113984 | GUCA1B | c.110T>C (p.Leu37Pro) c.4-5980T>C (n.4-5980T>C) | |
| 6 | g.42194711A>T | CA3805649 | GUCA1B | c.110T>A (p.Leu37His) c.4-5980T>A (n.4-5980T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.42194712G>A | CA364113985 | GUCA1B | c.109C>T (p.Leu37Phe) c.4-5981C>T (n.4-5981C>T) | |
| 6 | g.42194712G>C | CA364113986 | GUCA1B | c.109C>G (p.Leu37Val) c.4-5981C>G (n.4-5981C>G) | |
| 6 | g.42194712G>T | CA364113987 | GUCA1B | c.109C>A (p.Leu37Ile) c.4-5981C>A (n.4-5981C>A) | |
| 6 | g.42194713T>A | CA450360793 | GUCA1B | c.108A>T (p.Thr36=) c.4-5982A>T (n.4-5982A>T) | |
| 6 | g.42194713T>C | CA450360794 | GUCA1B | c.108A>G (p.Thr36=) c.4-5982A>G (n.4-5982A>G) | |
| 6 | g.42194713T>G | CA450360795 | GUCA1B | c.108A>C (p.Thr36=) c.4-5982A>C (n.4-5982A>C) | |
| 6 | g.42194714G>A | CA364113990 | GUCA1B | c.107C>T (p.Thr36Ile) c.4-5983C>T (n.4-5983C>T) | |
| 6 | g.42194714G>C | CA364113988 | GUCA1B | c.107C>G (p.Thr36Arg) c.4-5983C>G (n.4-5983C>G) | |
| 6 | g.42194714G>T | CA364113989 | GUCA1B | c.107C>A (p.Thr36Lys) c.4-5983C>A (n.4-5983C>A) | |
| 6 | g.42194715T>A | CA364113991 | GUCA1B | c.106A>T (p.Thr36Ser) c.4-5984A>T (n.4-5984A>T) | |
| 6 | g.42194715T>C | CA364113992 | GUCA1B | c.106A>G (p.Thr36Ala) c.4-5984A>G (n.4-5984A>G) | |
| 6 | g.42194715T>G | CA364113993 | GUCA1B | c.106A>C (p.Thr36Pro) c.4-5984A>C (n.4-5984A>C) | |
| 6 | g.42194716G>A | CA450360800 | GUCA1B | c.105C>T (p.Gly35=) c.4-5985C>T (n.4-5985C>T) | dbSNP |
| 6 | g.42194716G>C | CA450360801 | GUCA1B | c.105C>G (p.Gly35=) c.4-5985C>G (n.4-5985C>G) | |
| 6 | g.42194716G= | CA1623960876 | GUCA1B | c.105C= (p.Gly35=) c.4-5985C= (n.4-5985C=) | |
| 6 | g.42194716G>T | CA450360802 | GUCA1B | c.105C>A (p.Gly35=) c.4-5985C>A (n.4-5985C>A) | |
| 6 | g.42194717C>A | CA364113994 | GUCA1B | c.104G>T (p.Gly35Val) c.4-5986G>T (n.4-5986G>T) | |
| 6 | g.42194717C= | CA1623960879 | GUCA1B | c.104G= (p.Gly35=) c.4-5986G= (n.4-5986G=) | |
| 6 | g.42194717C>G | CA364113995 | GUCA1B | c.104G>C (p.Gly35Ala) c.4-5986G>C (n.4-5986G>C) | |
| 6 | g.42194717C>T | CA3805650 | GUCA1B | c.104G>A (p.Gly35Asp) c.4-5986G>A (n.4-5986G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.42194718C>A | CA364113996 | GUCA1B | c.103G>T (p.Gly35Cys) c.4-5987G>T (n.4-5987G>T) | |
| 6 | g.42194718C= | CA1623960882 | GUCA1B | c.103G= (p.Gly35=) c.4-5987G= (n.4-5987G=) | |
| 6 | g.42194718C>G | CA364113997 | GUCA1B | c.103G>C (p.Gly35Arg) c.4-5987G>C (n.4-5987G>C) | |
| 6 | g.42194718C>T | CA270794 | GUCA1B | c.103G>A (p.Gly35Ser) c.4-5987G>A (n.4-5987G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.42194719G>A | CA3805651 | GUCA1B | c.102C>T (p.Ser34=) c.4-5988C>T (n.4-5988C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.42194719G>C | CA364113998 | GUCA1B | c.102C>G (p.Ser34Arg) c.4-5988C>G (n.4-5988C>G) | dbSNP |
| 6 | g.42194719G= | CA1623960885 | GUCA1B | c.102C= (p.Ser34=) c.4-5988C= (n.4-5988C=) | |
| 6 | g.42194719G>T | CA364113999 | GUCA1B | c.102C>A (p.Ser34Arg) c.4-5988C>A (n.4-5988C>A) | |
| 6 | g.42194720C>A | CA364114000 | GUCA1B | c.101G>T (p.Ser34Ile) c.4-5989G>T (n.4-5989G>T) | |
| 6 | g.42194720C>G | CA364114002 | GUCA1B | c.101G>C (p.Ser34Thr) c.4-5989G>C (n.4-5989G>C) | |
| 6 | g.42194720C>T | CA364114001 | GUCA1B | c.101G>A (p.Ser34Asn) c.4-5989G>A (n.4-5989G>A) | |
| 6 | g.42194721T>A | CA364114003 | GUCA1B | c.100A>T (p.Ser34Cys) c.4-5990A>T (n.4-5990A>T) | |
| 6 | g.42194721T>C | CA364114005 | GUCA1B | c.100A>G (p.Ser34Gly) c.4-5990A>G (n.4-5990A>G) | |
| 6 | g.42194721T>G | CA364114004 | GUCA1B | c.100A>C (p.Ser34Arg) c.4-5990A>C (n.4-5990A>C) | |
| 6 | g.42194722G>A | CA450360809 | GUCA1B | c.99C>T (p.Pro33=) c.4-5991C>T (n.4-5991C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.42194722G>C | CA450360810 | GUCA1B | c.99C>G (p.Pro33=) c.4-5991C>G (n.4-5991C>G) | gnomAD v4 |
| 6 | g.42194722G= | CA1623960888 | GUCA1B | c.99C= (p.Pro33=) c.4-5991C= (n.4-5991C=) | |
| 6 | g.42194722G>T | CA450360811 | GUCA1B | c.99C>A (p.Pro33=) c.4-5991C>A (n.4-5991C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.42194723G>A | CA364114006 | GUCA1B | c.98C>T (p.Pro33Leu) c.4-5992C>T (n.4-5992C>T) | gnomAD v4 |
| 6 | g.42194723G>C | CA364114007 | GUCA1B | c.98C>G (p.Pro33Arg) c.4-5992C>G (n.4-5992C>G) | |
| 6 | g.42194723G>T | CA364114008 | GUCA1B | c.98C>A (p.Pro33His) c.4-5992C>A (n.4-5992C>A) | |
| 6 | g.42194724G>A | CA364114009 | GUCA1B | c.97C>T (p.Pro33Ser) c.4-5993C>T (n.4-5993C>T) | |
| 6 | g.42194724G>C | CA364114010 | GUCA1B | c.97C>G (p.Pro33Ala) c.4-5993C>G (n.4-5993C>G) | |
| 6 | g.42194724G>T | CA364114011 | GUCA1B | c.97C>A (p.Pro33Thr) c.4-5993C>A (n.4-5993C>A) | |
| 6 | g.42194725G>A | CA450360814 | GUCA1B | c.96C>T (p.Cys32=) c.4-5994C>T (n.4-5994C>T) | |
| 6 | g.42194725G>C | CA364114012 | GUCA1B | c.96C>G (p.Cys32Trp) c.4-5994C>G (n.4-5994C>G) | |
| 6 | g.42194725G>T | CA364114013 | GUCA1B | c.96C>A (p.Cys32Ter) c.4-5994C>A (n.4-5994C>A) | |
| 6 | g.42194726C>A | CA364114014 | GUCA1B | c.95G>T (p.Cys32Phe) c.4-5995G>T (n.4-5995G>T) | |
| 6 | g.42194726C= | CA1623960891 | GUCA1B | c.95G= (p.Cys32=) c.4-5995G= (n.4-5995G=) | |
| 6 | g.42194726C>G | CA364114015 | GUCA1B | c.95G>C (p.Cys32Ser) c.4-5995G>C (n.4-5995G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.42194726C>T | CA3805652 | GUCA1B | c.95G>A (p.Cys32Tyr) c.4-5995G>A (n.4-5995G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.42194727A= | CA1623960897 | GUCA1B | c.94T= (p.Cys32=) c.4-5996T= (n.4-5996T=) | |
| 6 | g.42194727A>C | CA364114018 | GUCA1B | c.94T>G (p.Cys32Gly) c.4-5996T>G (n.4-5996T>G) | |
| 6 | g.42194727A>G | CA364114016 | GUCA1B | c.94T>C (p.Cys32Arg) c.4-5996T>C (n.4-5996T>C) | dbSNP gnomAD v4 |
| 6 | g.42194727A>T | CA364114017 | GUCA1B | c.94T>A (p.Cys32Ser) c.4-5996T>A (n.4-5996T>A) | |
| 6 | g.42194728C>A | CA364114019 | GUCA1B | c.93G>T (p.Glu31Asp) c.4-5997G>T (n.4-5997G>T) | |
| 6 | g.42194728C= | CA1623960899 | GUCA1B | c.93G= (p.Glu31=) c.4-5997G= (n.4-5997G=) | |
| 6 | g.42194728C>G | CA364114020 | GUCA1B | c.93G>C (p.Glu31Asp) c.4-5997G>C (n.4-5997G>C) | |
| 6 | g.42194728C>T | CA450360818 | GUCA1B | c.93G>A (p.Glu31=) c.4-5997G>A (n.4-5997G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.42194729T>A | CA364114021 | GUCA1B | c.92A>T (p.Glu31Val) c.4-5998A>T (n.4-5998A>T) | |
| 6 | g.42194729T>C | CA364114022 | GUCA1B | c.92A>G (p.Glu31Gly) c.4-5998A>G (n.4-5998A>G) | |
| 6 | g.42194729T>G | CA364114023 | GUCA1B | c.92A>C (p.Glu31Ala) c.4-5998A>C (n.4-5998A>C) | |
| 6 | g.42194730C>A | CA364114024 | GUCA1B | c.91G>T (p.Glu31Ter) c.4-5999G>T (n.4-5999G>T) | |
| 6 | g.42194730C= | CA1623960903 | GUCA1B | c.91G= (p.Glu31=) c.4-5999G= (n.4-5999G=) | |
| 6 | g.42194730C>G | CA3805653 | GUCA1B | c.91G>C (p.Glu31Gln) c.4-5999G>C (n.4-5999G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.42194730C>T | CA364114025 | GUCA1B | c.91G>A (p.Glu31Lys) c.4-5999G>A (n.4-5999G>A) | |
| 6 | g.42194731C>A | CA364114026 | GUCA1B | c.90G>T (p.Met30Ile) c.4-6000G>T (n.4-6000G>T) | |
| 6 | g.42194731C>G | CA364114027 | GUCA1B | c.90G>C (p.Met30Ile) c.4-6000G>C (n.4-6000G>C) | |
| 6 | g.42194731C>T | CA364114028 | GUCA1B | c.90G>A (p.Met30Ile) c.4-6000G>A (n.4-6000G>A) | |
| 6 | g.42194733_42194735del | CA2770806378 | GUCA1B | c.88_90del (p.Met30del) c.4-6002_4-6000del (n.4-6002_4-6000del) | |
| 6 | g.42194732A= | CA1623960907 | GUCA1B | c.89T= (p.Met30=) c.4-6001T= (n.4-6001T=) | |
| 6 | g.42194732A>C | CA364114030 | GUCA1B | c.89T>G (p.Met30Arg) c.4-6001T>G (n.4-6001T>G) | |
| 6 | g.42194732A>G | CA3805654 | GUCA1B | c.89T>C (p.Met30Thr) c.4-6001T>C (n.4-6001T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.42194732A>T | CA364114029 | GUCA1B | c.89T>A (p.Met30Lys) c.4-6001T>A (n.4-6001T>A) | gnomAD v4 |
| 6 | g.42194733T>A | CA364114031 | GUCA1B | c.88A>T (p.Met30Leu) c.4-6002A>T (n.4-6002A>T) | |
| 6 | g.42194733T>C | CA364114032 | GUCA1B | c.88A>G (p.Met30Val) c.4-6002A>G (n.4-6002A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.42194733T>G | CA364114033 | GUCA1B | c.88A>C (p.Met30Leu) c.4-6002A>C (n.4-6002A>C) | |
| 6 | g.42194733T= | CA1623960909 | GUCA1B | c.88A= (p.Met30=) c.4-6002A= (n.4-6002A=) | |
| 6 | g.42194734C>A | CA450360825 | GUCA1B | c.87G>T (p.Val29=) c.4-6003G>T (n.4-6003G>T) | |
| 6 | g.42194734C= | CA1623960912 | GUCA1B | c.87G= (p.Val29=) c.4-6003G= (n.4-6003G=) | |
| 6 | g.42194734C>G | CA450360826 | GUCA1B | c.87G>C (p.Val29=) c.4-6003G>C (n.4-6003G>C) | |
| 6 | g.42194734C>T | CA3805655 | GUCA1B | c.87G>A (p.Val29=) c.4-6003G>A (n.4-6003G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.42194735A>C | CA364114034 | GUCA1B | c.86T>G (p.Val29Gly) c.4-6004T>G (n.4-6004T>G) | |
| 6 | g.42194735A>G | CA364114035 | GUCA1B | c.86T>C (p.Val29Ala) c.4-6004T>C (n.4-6004T>C) | |
| 6 | g.42194735A>T | CA364114036 | GUCA1B | c.86T>A (p.Val29Glu) c.4-6004T>A (n.4-6004T>A) | |
| 6 | g.42194736C>A | CA364114037 | GUCA1B | c.85G>T (p.Val29Leu) c.4-6005G>T (n.4-6005G>T) | |
| 6 | g.42194736C>G | CA364114038 | GUCA1B | c.85G>C (p.Val29Leu) c.4-6005G>C (n.4-6005G>C) | |
| 6 | g.42194736C>T | CA364114039 | GUCA1B | c.85G>A (p.Val29Met) c.4-6005G>A (n.4-6005G>A) | |
| 6 | g.42194737A= | CA1623960916 | GUCA1B | c.84T= (p.Phe28=) c.4-6006T= (n.4-6006T=) | |
| 6 | g.42194737A>C | CA364114040 | GUCA1B | c.84T>G (p.Phe28Leu) c.4-6006T>G (n.4-6006T>G) | |
| 6 | g.42194737A>G | CA450360830 | GUCA1B | c.84T>C (p.Phe28=) c.4-6006T>C (n.4-6006T>C) | dbSNP |
| 6 | g.42194737A>T | CA364114041 | GUCA1B | c.84T>A (p.Phe28Leu) c.4-6006T>A (n.4-6006T>A) | |
| 6 | g.42194739del | CA2678753050 | GUCA1B | c.84del (p.Phe28LeufsTer2) c.4-6006del (n.4-6006del) | gnomAD v4 |
| 6 | g.42194738A= | CA1623960921 | GUCA1B | c.83T= (p.Phe28=) c.4-6007T= (n.4-6007T=) | |
| 6 | g.42194738A>C | CA364114043 | GUCA1B | c.83T>G (p.Phe28Cys) c.4-6007T>G (n.4-6007T>G) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.42194738A>G | CA3805656 | GUCA1B | c.83T>C (p.Phe28Ser) c.4-6007T>C (n.4-6007T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.42194738A>T | CA364114042 | GUCA1B | c.83T>A (p.Phe28Tyr) c.4-6007T>A (n.4-6007T>A) | |
| 6 | g.42194739A>C | CA364114044 | GUCA1B | c.82T>G (p.Phe28Val) c.4-6008T>G (n.4-6008T>G) | |
| 6 | g.42194739A>G | CA364114045 | GUCA1B | c.82T>C (p.Phe28Leu) c.4-6008T>C (n.4-6008T>C) | |
| 6 | g.42194739A>T | CA364114046 | GUCA1B | c.82T>A (p.Phe28Ile) c.4-6008T>A (n.4-6008T>A) | |
| 6 | g.42194740C>A | CA364114047 | GUCA1B | c.81G>T (p.Lys27Asn) c.4-6009G>T (n.4-6009G>T) | |
| 6 | g.42194740C= | CA1623960925 | GUCA1B | c.81G= (p.Lys27=) c.4-6009G= (n.4-6009G=) | |
| 6 | g.42194740C>G | CA364114048 | GUCA1B | c.81G>C (p.Lys27Asn) c.4-6009G>C (n.4-6009G>C) | |
| 6 | g.42194740C>T | CA3805657 | GUCA1B | c.81G>A (p.Lys27=) c.4-6009G>A (n.4-6009G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.42194741T>A | CA3805658 | GUCA1B | c.80A>T (p.Lys27Met) c.4-6010A>T (n.4-6010A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.42194741T>C | CA364114049 | GUCA1B | c.80A>G (p.Lys27Arg) c.4-6010A>G (n.4-6010A>G) | |
| 6 | g.42194741T>G | CA364114050 | GUCA1B | c.80A>C (p.Lys27Thr) c.4-6010A>C (n.4-6010A>C) | |
| 6 | g.42194741T= | CA1623960928 | GUCA1B | c.80A= (p.Lys27=) c.4-6010A= (n.4-6010A=) | |
| 6 | g.42194742T>A | CA364114051 | GUCA1B | c.79A>T (p.Lys27Ter) c.4-6011A>T (n.4-6011A>T) | |
| 6 | g.42194742T>C | CA364114052 | GUCA1B | c.79A>G (p.Lys27Glu) c.4-6011A>G (n.4-6011A>G) | gnomAD v4 |
| 6 | g.42194742T>G | CA364114053 | GUCA1B | c.79A>C (p.Lys27Gln) c.4-6011A>C (n.4-6011A>C) | |
| 6 | g.42194743C>A | CA364114054 | GUCA1B | c.78G>T (p.Lys26Asn) c.4-6012G>T (n.4-6012G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.42194743C= | CA1623960930 | GUCA1B | c.78G= (p.Lys26=) c.4-6012G= (n.4-6012G=) | |
| 6 | g.42194743C>G | CA364114055 | GUCA1B | c.78G>C (p.Lys26Asn) c.4-6012G>C (n.4-6012G>C) | |
| 6 | g.42194743C>T | CA450360838 | GUCA1B | c.78G>A (p.Lys26=) c.4-6012G>A (n.4-6012G>A) | |
| 6 | g.42194744T>A | CA364114056 | GUCA1B | c.77A>T (p.Lys26Met) c.4-6013A>T (n.4-6013A>T) | |
| 6 | g.42194744T>C | CA364114058 | GUCA1B | c.77A>G (p.Lys26Arg) c.4-6013A>G (n.4-6013A>G) | gnomAD v4 |
| 6 | g.42194744T>G | CA364114057 | GUCA1B | c.77A>C (p.Lys26Thr) c.4-6013A>C (n.4-6013A>C) | |
| 6 | g.42194745T>A | CA364114059 | GUCA1B | c.76A>T (p.Lys26Ter) c.4-6014A>T (n.4-6014A>T) | |
| 6 | g.42194745T>C | CA138153026 | GUCA1B | c.76A>G (p.Lys26Glu) c.4-6014A>G (n.4-6014A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.42194745T>G | CA364114060 | GUCA1B | c.76A>C (p.Lys26Gln) c.4-6014A>C (n.4-6014A>C) | |
| 6 | g.42194745T= | CA1623960933 | GUCA1B | c.76A= (p.Lys26=) c.4-6014A= (n.4-6014A=) | |
| 6 | g.42194746G>A | CA450360842 | GUCA1B | c.75C>T (p.Tyr25=) c.4-6015C>T (n.4-6015C>T) | |
| 6 | g.42194746G>C | CA364114061 | GUCA1B | c.75C>G (p.Tyr25Ter) c.4-6015C>G (n.4-6015C>G) | |
| 6 | g.42194746G>T | CA364114062 | GUCA1B | c.75C>A (p.Tyr25Ter) c.4-6015C>A (n.4-6015C>A) | |
| 6 | g.42194747T>A | CA364114063 | GUCA1B | c.74A>T (p.Tyr25Phe) c.4-6016A>T (n.4-6016A>T) | |
| 6 | g.42194747T>C | CA364114064 | GUCA1B | c.74A>G (p.Tyr25Cys) c.4-6016A>G (n.4-6016A>G) | |
| 6 | g.42194747T>G | CA364114065 | GUCA1B | c.74A>C (p.Tyr25Ser) c.4-6016A>C (n.4-6016A>C) | |
| 6 | g.42194748A>C | CA364114066 | GUCA1B | c.73T>G (p.Tyr25Asp) c.4-6017T>G (n.4-6017T>G) | |
| 6 | g.42194748A>G | CA364114067 | GUCA1B | c.73T>C (p.Tyr25His) c.4-6017T>C (n.4-6017T>C) | |
| 6 | g.42194748A>T | CA364114068 | GUCA1B | c.73T>A (p.Tyr25Asn) c.4-6017T>A (n.4-6017T>A) | |
| 6 | g.42194749C>A | CA364114069 | GUCA1B | c.72G>T (p.Trp24Cys) c.4-6018G>T (n.4-6018G>T) | |
| 6 | g.42194749C>G | CA364114070 | GUCA1B | c.72G>C (p.Trp24Cys) c.4-6018G>C (n.4-6018G>C) | |
| 6 | g.42194749C>T | CA364114071 | GUCA1B | c.72G>A (p.Trp24Ter) c.4-6018G>A (n.4-6018G>A) | gnomAD v4 |
| 6 | g.42194750C>A | CA364114072 | GUCA1B | c.71G>T (p.Trp24Leu) c.4-6019G>T (n.4-6019G>T) | |
| 6 | g.42194750C>G | CA364114073 | GUCA1B | c.71G>C (p.Trp24Ser) c.4-6019G>C (n.4-6019G>C) | |
| 6 | g.42194750C>T | CA364114074 | GUCA1B | c.71G>A (p.Trp24Ter) c.4-6019G>A (n.4-6019G>A) |