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 |
|---|---|---|---|---|---|
| 3 | g.126510611_126510639del | CA83289910 | UROC1 | c.257+32_257+60del (n.257+32_257+60del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.126510639T>G | CA1053236344 | UROC1 | c.257+25A>C (n.257+25A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.126510639T= | CA1399821767 | UROC1 | c.257+25A= (n.257+25A=) | |
| 3 | g.126510641G>T | CA2667453033 | UROC1 | c.257+23C>A (n.257+23C>A) | gnomAD v4 |
| 3 | g.126510643A= | CA1399821768 | UROC1 | c.257+21T= (n.257+21T=) | |
| 3 | g.126510643A>G | CA546073699 | UROC1 | c.257+21T>C (n.257+21T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.126510644G>C | CA2667453034 | UROC1 | c.257+20C>G (n.257+20C>G) | gnomAD v4 |
| 3 | g.126510645C>A | CA1399821769 | UROC1 | c.257+19G>T (n.257+19G>T) | dbSNP gnomAD v4 |
| 3 | g.126510645C= | CA1399821770 | UROC1 | c.257+19G= (n.257+19G=) | |
| 3 | g.126510645C>G | CA2577885778 | UROC1 | c.257+19G>C (n.257+19G>C) | |
| 3 | g.126510645C>T | CA2667453036 | UROC1 | c.257+19G>A (n.257+19G>A) | gnomAD v4 |
| 3 | g.126510646T>C | CA2667453038 | UROC1 | c.257+18A>G (n.257+18A>G) | gnomAD v4 |
| 3 | g.126510647G>A | CA2667453041 | UROC1 | c.257+17C>T (n.257+17C>T) | gnomAD v4 |
| 3 | g.126510650C= | CA1399821771 | UROC1 | c.257+14G= (n.257+14G=) | |
| 3 | g.126510650C>T | CA83289968 | UROC1 | c.257+14G>A (n.257+14G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.126510651C= | CA1399821772 | UROC1 | c.257+13G= (n.257+13G=) | |
| 3 | g.126510651C>G | CA2667453043 | UROC1 | c.257+13G>C (n.257+13G>C) | gnomAD v4 |
| 3 | g.126510651C>T | CA1399821773 | UROC1 | c.257+13G>A (n.257+13G>A) | dbSNP |
| 3 | g.126510653A>G | CA2703879222 | UROC1 | c.257+11T>C (n.257+11T>C) | dbSNP |
| 3 | g.126510655A>G | CA2667453046 | UROC1 | c.257+9T>C (n.257+9T>C) | gnomAD v4 |
| 3 | g.126510656del | CA2667453045 | UROC1 | c.257+9del (n.257+9del) | gnomAD v4 |
| 3 | g.126510657G>A | CA2667453048 | UROC1 | c.257+7C>T (n.257+7C>T) | gnomAD v4 |
| 3 | g.126510657G>T | CA2577885779 | UROC1 | c.257+7C>A (n.257+7C>A) | |
| 3 | g.126510658G>A | CA83289973 | UROC1 | c.257+6C>T (n.257+6C>T) | dbSNP |
| 3 | g.126510658G= | CA1399821774 | UROC1 | c.257+6C= (n.257+6C=) | |
| 3 | g.126510660T>C | CA2667453050 | UROC1 | c.257+4A>G (n.257+4A>G) | gnomAD v4 |
| 3 | g.126510661G>A | CA2591631 | UROC1 | c.257+3C>T (n.257+3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.126510661G= | CA1399821775 | UROC1 | c.257+3C= (n.257+3C=) | |
| 3 | g.126510661G>T | CA2667453053 | UROC1 | c.257+3C>A (n.257+3C>A) | gnomAD v4 |
| 3 | g.126510662A= | CA1399821776 | UROC1 | c.257+2T= (n.257+2T=) | |
| 3 | g.126510662A>C | CA354338874 | UROC1 | c.257+2T>G (n.257+2T>G) | |
| 3 | g.126510662A>G | CA354338875 | UROC1 | c.257+2T>C (n.257+2T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.126510662A>T | CA354338876 | UROC1 | c.257+2T>A (n.257+2T>A) | |
| 3 | g.126510663C>A | CA354338877 | UROC1 | c.257+1G>T (n.257+1G>T) | |
| 3 | g.126510663C= | CA1399821777 | UROC1 | c.257+1G= (n.257+1G=) | |
| 3 | g.126510663C>G | CA354338878 | UROC1 | c.257+1G>C (n.257+1G>C) | |
| 3 | g.126510663C>T | CA354338879 | UROC1 | c.257+1G>A (n.257+1G>A) | dbSNP |
| 3 | g.126510664C>A | CA2591632 | UROC1 | c.257G>T (p.Arg86Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.126510664C= | CA1399821778 | UROC1 | c.257G= (p.Arg86=) | |
| 3 | g.126510664C>G | CA354338880 | UROC1 | c.257G>C (p.Arg86Thr) | |
| 3 | g.126510664C>T | CA2591633 | UROC1 | c.257G>A (p.Arg86Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.126510665T>A | CA354338881 | UROC1 | c.256A>T (p.Arg86Trp) | |
| 3 | g.126510665T>C | CA354338882 | UROC1 | c.256A>G (p.Arg86Gly) | |
| 3 | g.126510665T>G | CA435503739 | UROC1 | c.256A>C (p.Arg86=) | |
| 3 | g.126510666C>A | CA354338883 | UROC1 | c.255G>T (p.Met85Ile) | |
| 3 | g.126510666C>G | CA354338884 | UROC1 | c.255G>C (p.Met85Ile) | |
| 3 | g.126510666C>T | CA354338885 | UROC1 | c.255G>A (p.Met85Ile) | |
| 3 | g.126510667A= | CA1399821779 | UROC1 | c.254T= (p.Met85=) | |
| 3 | g.126510667A>C | CA354338886 | UROC1 | c.254T>G (p.Met85Arg) | dbSNP gnomAD v4 |
| 3 | g.126510667A>G | CA354338887 | UROC1 | c.254T>C (p.Met85Thr) | dbSNP |
| 3 | g.126510667A>T | CA354338888 | UROC1 | c.254T>A (p.Met85Lys) | |
| 3 | g.126510668T>A | CA354338889 | UROC1 | c.253A>T (p.Met85Leu) | |
| 3 | g.126510668T>C | CA2591634 | UROC1 | c.253A>G (p.Met85Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.126510668T>G | CA354338890 | UROC1 | c.253A>C (p.Met85Leu) | |
| 3 | g.126510668T= | CA1399821780 | UROC1 | c.253A= (p.Met85=) | |
| 3 | g.126510669T>A | CA354338892 | UROC1 | c.252A>T (p.Glu84Asp) | |
| 3 | g.126510669T>C | CA435503751 | UROC1 | c.252A>G (p.Glu84=) | dbSNP |
| 3 | g.126510669T>G | CA354338891 | UROC1 | c.252A>C (p.Glu84Asp) | |
| 3 | g.126510669T= | CA1399821781 | UROC1 | c.252A= (p.Glu84=) | |
| 3 | g.126510670T>A | CA354338893 | UROC1 | c.251A>T (p.Glu84Val) | |
| 3 | g.126510670T>C | CA354338894 | UROC1 | c.251A>G (p.Glu84Gly) | |
| 3 | g.126510670T>G | CA2591635 | UROC1 | c.251A>C (p.Glu84Ala) | dbSNP ExAC gnomAD v2 |
| 3 | g.126510670T= | CA1399821782 | UROC1 | c.251A= (p.Glu84=) | |
| 3 | g.126510671C>A | CA354338895 | UROC1 | c.250G>T (p.Glu84Ter) | |
| 3 | g.126510671C>G | CA354338897 | UROC1 | c.250G>C (p.Glu84Gln) | |
| 3 | g.126510671C>T | CA354338896 | UROC1 | c.250G>A (p.Glu84Lys) | |
| 3 | g.126510672A= | CA1399821783 | UROC1 | c.249T= (p.Ile83=) | |
| 3 | g.126510672A>C | CA354338898 | UROC1 | c.249T>G (p.Ile83Met) | |
| 3 | g.126510672A>G | CA83290002 | UROC1 | c.249T>C (p.Ile83=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.126510672A>T | CA435503764 | UROC1 | c.249T>A (p.Ile83=) | |
| 3 | g.126510673A>C | CA354338899 | UROC1 | c.248T>G (p.Ile83Ser) | gnomAD v4 |
| 3 | g.126510673A>G | CA354338900 | UROC1 | c.248T>C (p.Ile83Thr) | gnomAD v4 COSMIC COSMIC |
| 3 | g.126510673A>T | CA354338901 | UROC1 | c.248T>A (p.Ile83Asn) | |
| 3 | g.126510674T>A | CA354338902 | UROC1 | c.247A>T (p.Ile83Phe) | |
| 3 | g.126510674T>C | CA83290003 | UROC1 | c.247A>G (p.Ile83Val) | dbSNP gnomAD v4 |
| 3 | g.126510674T>G | CA354338903 | UROC1 | c.247A>C (p.Ile83Leu) | |
| 3 | g.126510674T= | CA1399821784 | UROC1 | c.247A= (p.Ile83=) | |
| 3 | g.126510675G>A | CA435503773 | UROC1 | c.246C>T (p.Asp82=) | gnomAD v4 |
| 3 | g.126510675G>C | CA354338904 | UROC1 | c.246C>G (p.Asp82Glu) | |
| 3 | g.126510675G>T | CA354338905 | UROC1 | c.246C>A (p.Asp82Glu) | |
| 3 | g.126510676T>A | CA354338906 | UROC1 | c.245A>T (p.Asp82Val) | |
| 3 | g.126510676T>C | CA354338907 | UROC1 | c.245A>G (p.Asp82Gly) | |
| 3 | g.126510676T>G | CA354338908 | UROC1 | c.245A>C (p.Asp82Ala) | |
| 3 | g.126510677C>A | CA354338909 | UROC1 | c.244G>T (p.Asp82Tyr) | |
| 3 | g.126510677C= | CA1399821785 | UROC1 | c.244G= (p.Asp82=) | |
| 3 | g.126510677C>G | CA354338910 | UROC1 | c.244G>C (p.Asp82His) | |
| 3 | g.126510677C>T | CA2591636 | UROC1 | c.244G>A (p.Asp82Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.126510678G>A | CA2591637 | UROC1 | c.243C>T (p.Pro81=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.126510678G>C | CA435503786 | UROC1 | c.243C>G (p.Pro81=) | |
| 3 | g.126510678G= | CA1399821786 | UROC1 | c.243C= (p.Pro81=) | |
| 3 | g.126510678G>T | CA435503787 | UROC1 | c.243C>A (p.Pro81=) | |
| 3 | g.126510681del | CA2667453079 | UROC1 | c.243del (p.Asp82ThrfsTer4) | gnomAD v4 |
| 3 | g.126510679G>A | CA354338911 | UROC1 | c.242C>T (p.Pro81Leu) | |
| 3 | g.126510679G>C | CA354338912 | UROC1 | c.242C>G (p.Pro81Arg) | |
| 3 | g.126510679G>T | CA354338913 | UROC1 | c.242C>A (p.Pro81His) | |
| 3 | g.126510680G>A | CA354338914 | UROC1 | c.241C>T (p.Pro81Ser) | gnomAD v4 |
| 3 | g.126510680G>C | CA354338915 | UROC1 | c.241C>G (p.Pro81Ala) | |
| 3 | g.126510680G>T | CA354338916 | UROC1 | c.241C>A (p.Pro81Thr) | |
| 3 | g.126510681G>A | CA435503796 | UROC1 | c.240C>T (p.Cys80=) | |
| 3 | g.126510681G>C | CA354338917 | UROC1 | c.240C>G (p.Cys80Trp) | |
| 3 | g.126510681G>T | CA354338918 | UROC1 | c.240C>A (p.Cys80Ter) | |
| 3 | g.126510682C>A | CA354338921 | UROC1 | c.239G>T (p.Cys80Phe) | dbSNP gnomAD v4 |
| 3 | g.126510682C= | CA1399821787 | UROC1 | c.239G= (p.Cys80=) | |
| 3 | g.126510682C>G | CA354338920 | UROC1 | c.239G>C (p.Cys80Ser) | |
| 3 | g.126510682C>T | CA354338919 | UROC1 | c.239G>A (p.Cys80Tyr) | dbSNP |
| 3 | g.126510683A= | CA1399821788 | UROC1 | c.238T= (p.Cys80=) | |
| 3 | g.126510683A>C | CA354338922 | UROC1 | c.238T>G (p.Cys80Gly) | |
| 3 | g.126510683A>G | CA2591638 | UROC1 | c.238T>C (p.Cys80Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.126510683A>T | CA354338923 | UROC1 | c.238T>A (p.Cys80Ser) | |
| 3 | g.126510684A>C | CA354338924 | UROC1 | c.237T>G (p.Phe79Leu) | |
| 3 | g.126510684A>G | CA435503809 | UROC1 | c.237T>C (p.Phe79=) | |
| 3 | g.126510684A>T | CA354338925 | UROC1 | c.237T>A (p.Phe79Leu) | |
| 3 | g.126510685A>C | CA354338926 | UROC1 | c.236T>G (p.Phe79Cys) | |
| 3 | g.126510685A>G | CA354338927 | UROC1 | c.236T>C (p.Phe79Ser) | |
| 3 | g.126510685A>T | CA354338928 | UROC1 | c.236T>A (p.Phe79Tyr) | |
| 3 | g.126510686A>C | CA354338929 | UROC1 | c.235T>G (p.Phe79Val) | |
| 3 | g.126510686A>G | CA354338930 | UROC1 | c.235T>C (p.Phe79Leu) | |
| 3 | g.126510686A>T | CA354338931 | UROC1 | c.235T>A (p.Phe79Ile) | |
| 3 | g.126510687C>A | CA435503819 | UROC1 | c.234G>T (p.Arg78=) | |
| 3 | g.126510687C>G | CA435503821 | UROC1 | c.234G>C (p.Arg78=) | |
| 3 | g.126510687C>T | CA435503822 | UROC1 | c.234G>A (p.Arg78=) | gnomAD v4 |
| 3 | g.126510688C>A | CA354338932 | UROC1 | c.233G>T (p.Arg78Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.126510688C= | CA1399821789 | UROC1 | c.233G= (p.Arg78=) | |
| 3 | g.126510688C>G | CA2591639 | UROC1 | c.233G>C (p.Arg78Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.126510688C>T | CA2591640 | UROC1 | c.233G>A (p.Arg78Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.126510689G>A | CA2591641 | UROC1 | c.232C>T (p.Arg78Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.126510689G>C | CA354338933 | UROC1 | c.232C>G (p.Arg78Gly) | |
| 3 | g.126510689G= | CA1399821790 | UROC1 | c.232C= (p.Arg78=) | |
| 3 | g.126510689G>T | CA435503830 | UROC1 | c.232C>A (p.Arg78=) | |
| 3 | g.126510690G>A | CA435503832 | UROC1 | c.231C>T (p.Tyr77=) | dbSNP |
| 3 | g.126510690G>C | CA354338934 | UROC1 | c.231C>G (p.Tyr77Ter) | |
| 3 | g.126510690G>T | CA354338935 | UROC1 | c.231C>A (p.Tyr77Ter) | |
| 3 | g.126510691T>A | CA354338936 | UROC1 | c.230A>T (p.Tyr77Phe) | |
| 3 | g.126510691T>C | CA83290037 | UROC1 | c.230A>G (p.Tyr77Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.126510691T>G | CA354338937 | UROC1 | c.230A>C (p.Tyr77Ser) | gnomAD v4 |
| 3 | g.126510691T= | CA1399821791 | UROC1 | c.230A= (p.Tyr77=) | |
| 3 | g.126510692A>C | CA354338938 | UROC1 | c.229T>G (p.Tyr77Asp) | |
| 3 | g.126510692A>G | CA354338939 | UROC1 | c.229T>C (p.Tyr77His) | |
| 3 | g.126510692A>T | CA354338940 | UROC1 | c.229T>A (p.Tyr77Asn) | |
| 3 | g.126510693C>A | CA354338941 | UROC1 | c.228G>T (p.Met76Ile) | |
| 3 | g.126510693C>G | CA354338942 | UROC1 | c.228G>C (p.Met76Ile) | |
| 3 | g.126510693C>T | CA354338943 | UROC1 | c.228G>A (p.Met76Ile) | |
| 3 | g.126510694A= | CA1399821792 | UROC1 | c.227T= (p.Met76=) | |
| 3 | g.126510694A>C | CA354338945 | UROC1 | c.227T>G (p.Met76Arg) | gnomAD v4 |
| 3 | g.126510694A>G | CA2591642 | UROC1 | c.227T>C (p.Met76Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.126510694A>T | CA354338944 | UROC1 | c.227T>A (p.Met76Lys) | |
| 3 | g.126510695T>A | CA354338946 | UROC1 | c.226A>T (p.Met76Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.126510695T>C | CA2591643 | UROC1 | c.226A>G (p.Met76Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.126510695T>G | CA354338947 | UROC1 | c.226A>C (p.Met76Leu) | dbSNP |
| 3 | g.126510695T= | CA1399821793 | UROC1 | c.226A= (p.Met76=) | |
| 3 | g.126510696G>A | CA2591644 | UROC1 | c.225C>T (p.Tyr75=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.126510696G>C | CA354338948 | UROC1 | c.225C>G (p.Tyr75Ter) | |
| 3 | g.126510696G= | CA1399821794 | UROC1 | c.225C= (p.Tyr75=) | |
| 3 | g.126510696G>T | CA354338949 | UROC1 | c.225C>A (p.Tyr75Ter) | |
| 3 | g.126510697T>A | CA354338950 | UROC1 | c.224A>T (p.Tyr75Phe) | |
| 3 | g.126510697T>C | CA2591645 | UROC1 | c.224A>G (p.Tyr75Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.126510697T>G | CA354338951 | UROC1 | c.224A>C (p.Tyr75Ser) | |
| 3 | g.126510697T= | CA1399821795 | UROC1 | c.224A= (p.Tyr75=) | |
| 3 | g.126510698A>C | CA354338952 | UROC1 | c.223T>G (p.Tyr75Asp) | |
| 3 | g.126510698A>G | CA354338953 | UROC1 | c.223T>C (p.Tyr75His) | |
| 3 | g.126510698A>T | CA354338954 | UROC1 | c.223T>A (p.Tyr75Asn) | |
| 3 | g.126510699G>A | CA2591646 | UROC1 | c.222C>T (p.Ile74=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.126510699G>C | CA354338955 | UROC1 | c.222C>G (p.Ile74Met) | gnomAD v4 |
| 3 | g.126510699G= | CA1399821796 | UROC1 | c.222C= (p.Ile74=) | |
| 3 | g.126510699G>T | CA435503861 | UROC1 | c.222C>A (p.Ile74=) | |
| 3 | g.126510700A>C | CA354338958 | UROC1 | c.221T>G (p.Ile74Ser) | |
| 3 | g.126510700A>G | CA354338956 | UROC1 | c.221T>C (p.Ile74Thr) | |
| 3 | g.126510700A>T | CA354338957 | UROC1 | c.221T>A (p.Ile74Asn) | |
| 3 | g.126510700_126510701delinsAT | CA1399821797 | UROC1 | c.220_221delinsAT (p.Ile74=) | |
| 3 | g.126510701del | CA546073700 | UROC1 | c.220del (p.Ile74SerfsTer12) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.126510701T>A | CA354338959 | UROC1 | c.220A>T (p.Ile74Phe) | |
| 3 | g.126510701T>C | CA354338960 | UROC1 | c.220A>G (p.Ile74Val) | gnomAD v4 |
| 3 | g.126510701T>G | CA354338961 | UROC1 | c.220A>C (p.Ile74Leu) | |
| 3 | g.126510702G>A | CA435503869 | UROC1 | c.219C>T (p.His73=) | |
| 3 | g.126510702G>C | CA354338962 | UROC1 | c.219C>G (p.His73Gln) | |
| 3 | g.126510702G>T | CA354338963 | UROC1 | c.219C>A (p.His73Gln) | |
| 3 | g.126510703T>A | CA354338964 | UROC1 | c.218A>T (p.His73Leu) | |
| 3 | g.126510703T>C | CA354338965 | UROC1 | c.218A>G (p.His73Arg) | |
| 3 | g.126510703T>G | CA354338966 | UROC1 | c.218A>C (p.His73Pro) | |
| 3 | g.126510704G>A | CA354338967 | UROC1 | c.217C>T (p.His73Tyr) | gnomAD v4 |
| 3 | g.126510704G>C | CA354338968 | UROC1 | c.217C>G (p.His73Asp) | gnomAD v4 |
| 3 | g.126510704G>T | CA354338969 | UROC1 | c.217C>A (p.His73Asn) | COSMIC COSMIC |
| 3 | g.126510705T>A | CA435503877 | UROC1 | c.216A>T (p.Gly72=) | |
| 3 | g.126510705T>C | CA435503879 | UROC1 | c.216A>G (p.Gly72=) | gnomAD v4 |
| 3 | g.126510705T>G | CA435503880 | UROC1 | c.216A>C (p.Gly72=) | |
| 3 | g.126510706C>A | CA354338971 | UROC1 | c.215G>T (p.Gly72Val) | |
| 3 | g.126510706C>G | CA354338972 | UROC1 | c.215G>C (p.Gly72Ala) | |
| 3 | g.126510706C>T | CA354338970 | UROC1 | c.215G>A (p.Gly72Glu) | |
| 3 | g.126510707C>A | CA354338973 | UROC1 | c.214G>T (p.Gly72Ter) | |
| 3 | g.126510707C= | CA1399821799 | UROC1 | c.214G= (p.Gly72=) | |
| 3 | g.126510707C>G | CA354338974 | UROC1 | c.214G>C (p.Gly72Arg) | |
| 3 | g.126510707C>T | CA2591647 | UROC1 | c.214G>A (p.Gly72Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.126510707_126510710delinsCGTA | CA1399821798 | UROC1 | c.211_214delinsTACG (p.Tyr71=) | |
| 3 | g.126510708G>A | CA2591648 | UROC1 | c.213C>T (p.Tyr71=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.126510708G>C | CA354338975 | UROC1 | c.213C>G (p.Tyr71Ter) | |
| 3 | g.126510708G= | CA1399821800 | UROC1 | c.213C= (p.Tyr71=) | |
| 3 | g.126510708G>T | CA354338976 | UROC1 | c.213C>A (p.Tyr71Ter) | dbSNP |
| 3 | g.126510708_126510710del | CA1053236396 | UROC1 | c.211_213del (p.Tyr71del) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.126510709T>A | CA354338977 | UROC1 | c.212A>T (p.Tyr71Phe) | |
| 3 | g.126510709T>C | CA2591649 | UROC1 | c.212A>G (p.Tyr71Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.126510709T>G | CA354338978 | UROC1 | c.212A>C (p.Tyr71Ser) | |
| 3 | g.126510709T= | CA1399821801 | UROC1 | c.212A= (p.Tyr71=) | |
| 3 | g.126510710A>C | CA354338979 | UROC1 | c.211T>G (p.Tyr71Asp) | |
| 3 | g.126510710A>G | CA354338980 | UROC1 | c.211T>C (p.Tyr71His) | |
| 3 | g.126510710A>T | CA354338981 | UROC1 | c.211T>A (p.Tyr71Asn) | |
| 3 | g.126510711C>A | CA435503899 | UROC1 | c.210G>T (p.Leu70=) | |
| 3 | g.126510711C= | CA1399821802 | UROC1 | c.210G= (p.Leu70=) | |
| 3 | g.126510711C>G | CA435503900 | UROC1 | c.210G>C (p.Leu70=) | |
| 3 | g.126510711C>T | CA435503902 | UROC1 | c.210G>A (p.Leu70=) | dbSNP |
| 3 | g.126510711_126510712insCTCCATCCTCCCTTGCAGATAAGAACATCGATTTCAACTAAGACTGACCAATGAGATAAA | CA2667453103 | UROC1 | c.209_210insTTTATCTCATTGGTCAGTCTTAGTTGAAATCGATGTTCTTATCTGCAAGGGAGGATGGAG (p.Leu70_Tyr71insLeuSerHisTrpSerValLeuValGluIleAspValLeuIleCysLysGlyGlyTrpArg) | gnomAD v4 |
| 3 | g.126510712A= | CA1399821803 | UROC1 | c.209T= (p.Leu70=) | |
| 3 | g.126510712A>C | CA354338983 | UROC1 | c.209T>G (p.Leu70Arg) | |
| 3 | g.126510712A>G | CA114250 | UROC1 | c.209T>C (p.Leu70Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.126510712A>T | CA354338982 | UROC1 | c.209T>A (p.Leu70Gln) | |
| 3 | g.126510713G>A | CA435503908 | UROC1 | c.208C>T (p.Leu70=) | gnomAD v4 |
| 3 | g.126510713G>C | CA354338984 | UROC1 | c.208C>G (p.Leu70Val) | |
| 3 | g.126510713G>T | CA354338985 | UROC1 | c.208C>A (p.Leu70Met) | |
| 3 | g.126510714T>A | CA354338986 | UROC1 | c.207A>T (p.Gln69His) | |
| 3 | g.126510714T>C | CA2591650 | UROC1 | c.207A>G (p.Gln69=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.126510714T>G | CA354338987 | UROC1 | c.207A>C (p.Gln69His) | |
| 3 | g.126510714T= | CA1399821804 | UROC1 | c.207A= (p.Gln69=) | |
| 3 | g.126510715T>A | CA354338990 | UROC1 | c.206A>T (p.Gln69Leu) | |
| 3 | g.126510715T>C | CA354338989 | UROC1 | c.206A>G (p.Gln69Arg) | |
| 3 | g.126510715T>G | CA354338988 | UROC1 | c.206A>C (p.Gln69Pro) | |
| 3 | g.126510716G>A | CA354338991 | UROC1 | c.205C>T (p.Gln69Ter) | |
| 3 | g.126510716G>C | CA354338992 | UROC1 | c.205C>G (p.Gln69Glu) | |
| 3 | g.126510716G>T | CA354338993 | UROC1 | c.205C>A (p.Gln69Lys) | |
| 3 | g.126510727_126510753dup | CA2667453104 | UROC1 | c.179_205dup (p.Leu68_Gln69insLeuAlaProGluPheAlaGlnGluLeu) | gnomAD v4 |
| 3 | g.126510717C>A | CA2591651 | UROC1 | c.204G>T (p.Leu68=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.126510717C= | CA1399821805 | UROC1 | c.204G= (p.Leu68=) | |
| 3 | g.126510717C>G | CA435503919 | UROC1 | c.204G>C (p.Leu68=) | |
| 3 | g.126510717C>T | CA435503921 | UROC1 | c.204G>A (p.Leu68=) | |
| 3 | g.126510718A>C | CA354338994 | UROC1 | c.203T>G (p.Leu68Arg) | |
| 3 | g.126510718A>G | CA354338995 | UROC1 | c.203T>C (p.Leu68Pro) | |
| 3 | g.126510718A>T | CA354338996 | UROC1 | c.203T>A (p.Leu68Gln) | |
| 3 | g.126510719G>A | CA435503926 | UROC1 | c.202C>T (p.Leu68=) | |
| 3 | g.126510719G>C | CA354338997 | UROC1 | c.202C>G (p.Leu68Val) | |
| 3 | g.126510719G>T | CA354338998 | UROC1 | c.202C>A (p.Leu68Met) | |
| 3 | g.126510720C>A | CA354338999 | UROC1 | c.201G>T (p.Glu67Asp) | |
| 3 | g.126510720C>G | CA354339000 | UROC1 | c.201G>C (p.Glu67Asp) | gnomAD v4 |
| 3 | g.126510720C>T | CA435503931 | UROC1 | c.201G>A (p.Glu67=) | |
| 3 | g.126510721T>A | CA354339001 | UROC1 | c.200A>T (p.Glu67Val) | |
| 3 | g.126510721T>C | CA2591652 | UROC1 | c.200A>G (p.Glu67Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.126510721T>G | CA354339002 | UROC1 | c.200A>C (p.Glu67Ala) | |
| 3 | g.126510721T= | CA1399821806 | UROC1 | c.200A= (p.Glu67=) | |
| 3 | g.126510722C>A | CA354339003 | UROC1 | c.199G>T (p.Glu67Ter) | gnomAD v4 |
| 3 | g.126510722C= | CA1399821807 | UROC1 | c.199G= (p.Glu67=) | |
| 3 | g.126510722C>G | CA354339004 | UROC1 | c.199G>C (p.Glu67Gln) | gnomAD v4 |
| 3 | g.126510722C>T | CA354339005 | UROC1 | c.199G>A (p.Glu67Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.126510723C>A | CA354339006 | UROC1 | c.198G>T (p.Gln66His) | |
| 3 | g.126510723C>G | CA354339007 | UROC1 | c.198G>C (p.Gln66His) | gnomAD v4 |
| 3 | g.126510723C>T | CA435503936 | UROC1 | c.198G>A (p.Gln66=) | |
| 3 | g.126510724T>A | CA354339008 | UROC1 | c.197A>T (p.Gln66Leu) | |
| 3 | g.126510724T>C | CA354339009 | UROC1 | c.197A>G (p.Gln66Arg) | gnomAD v4 |
| 3 | g.126510724T>G | CA354339010 | UROC1 | c.197A>C (p.Gln66Pro) | |
| 3 | g.126510725G>A | CA2591653 | UROC1 | c.196C>T (p.Gln66Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.126510725G>C | CA354339011 | UROC1 | c.196C>G (p.Gln66Glu) | |
| 3 | g.126510725G= | CA1399821808 | UROC1 | c.196C= (p.Gln66=) | |
| 3 | g.126510725G>T | CA354339012 | UROC1 | c.196C>A (p.Gln66Lys) | |
| 3 | g.126510726G>A | CA435503943 | UROC1 | c.195C>T (p.Ala65=) | gnomAD v4 |
| 3 | g.126510726G>C | CA83290116 | UROC1 | c.195C>G (p.Ala65=) | dbSNP |
| 3 | g.126510726G= | CA1399821809 | UROC1 | c.195C= (p.Ala65=) | |
| 3 | g.126510726G>T | CA435503945 | UROC1 | c.195C>A (p.Ala65=) | |
| 3 | g.126510727G>A | CA354339015 | UROC1 | c.194C>T (p.Ala65Val) | |
| 3 | g.126510727G>C | CA354339014 | UROC1 | c.194C>G (p.Ala65Gly) | |
| 3 | g.126510727G>T | CA354339013 | UROC1 | c.194C>A (p.Ala65Asp) | |
| 3 | g.126510728C>A | CA2591654 | UROC1 | c.193G>T (p.Ala65Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.126510728C= | CA1399821810 | UROC1 | c.193G= (p.Ala65=) | |
| 3 | g.126510728C>G | CA354339016 | UROC1 | c.193G>C (p.Ala65Pro) | |
| 3 | g.126510728C>T | CA354339017 | UROC1 | c.193G>A (p.Ala65Thr) | dbSNP |
| 3 | g.126510729A>C | CA354339018 | UROC1 | c.192T>G (p.Phe64Leu) | |
| 3 | g.126510729A>G | CA435503951 | UROC1 | c.192T>C (p.Phe64=) | |
| 3 | g.126510729A>T | CA354339019 | UROC1 | c.192T>A (p.Phe64Leu) | |
| 3 | g.126510730A>C | CA354339020 | UROC1 | c.191T>G (p.Phe64Cys) | |
| 3 | g.126510730A>G | CA354339021 | UROC1 | c.191T>C (p.Phe64Ser) | |
| 3 | g.126510730A>T | CA354339022 | UROC1 | c.191T>A (p.Phe64Tyr) | |
| 3 | g.126510731A>C | CA354339023 | UROC1 | c.190T>G (p.Phe64Val) | |
| 3 | g.126510731A>G | CA354339024 | UROC1 | c.190T>C (p.Phe64Leu) | |
| 3 | g.126510731A>T | CA354339025 | UROC1 | c.190T>A (p.Phe64Ile) | |
| 3 | g.126510732C>A | CA354339026 | UROC1 | c.189G>T (p.Glu63Asp) | |
| 3 | g.126510732C= | CA1399821811 | UROC1 | c.189G= (p.Glu63=) | |
| 3 | g.126510732C>G | CA354339027 | UROC1 | c.189G>C (p.Glu63Asp) | |
| 3 | g.126510732C>T | CA2591655 | UROC1 | c.189G>A (p.Glu63=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.126510733T>A | CA354339029 | UROC1 | c.188A>T (p.Glu63Val) | |
| 3 | g.126510733T>C | CA354339030 | UROC1 | c.188A>G (p.Glu63Gly) | |
| 3 | g.126510733T>G | CA354339028 | UROC1 | c.188A>C (p.Glu63Ala) | |
| 3 | g.126510734C>A | CA354339031 | UROC1 | c.187G>T (p.Glu63Ter) | |
| 3 | g.126510734C>G | CA354339032 | UROC1 | c.187G>C (p.Glu63Gln) | |
| 3 | g.126510734C>T | CA354339033 | UROC1 | c.187G>A (p.Glu63Lys) | |
| 3 | g.126510735T>A | CA435503968 | UROC1 | c.186A>T (p.Pro62=) | |
| 3 | g.126510735T>C | CA435503970 | UROC1 | c.186A>G (p.Pro62=) | dbSNP |
| 3 | g.126510735T>G | CA435503972 | UROC1 | c.186A>C (p.Pro62=) | gnomAD v4 |
| 3 | g.126510735T= | CA1399821812 | UROC1 | c.186A= (p.Pro62=) | |
| 3 | g.126510736G>A | CA354339034 | UROC1 | c.185C>T (p.Pro62Leu) | |
| 3 | g.126510736G>C | CA354339035 | UROC1 | c.185C>G (p.Pro62Arg) | |
| 3 | g.126510736G>T | CA354339036 | UROC1 | c.185C>A (p.Pro62Gln) | |
| 3 | g.126510737G>A | CA354339037 | UROC1 | c.184C>T (p.Pro62Ser) | COSMIC COSMIC |
| 3 | g.126510737G>C | CA354339038 | UROC1 | c.184C>G (p.Pro62Ala) | |
| 3 | g.126510737G>T | CA354339039 | UROC1 | c.184C>A (p.Pro62Thr) | |
| 3 | g.126510738G>A | CA435503981 | UROC1 | c.183C>T (p.Ala61=) | |
| 3 | g.126510738G>C | CA435503982 | UROC1 | c.183C>G (p.Ala61=) | |
| 3 | g.126510738G>T | CA435503984 | UROC1 | c.183C>A (p.Ala61=) | |
| 3 | g.126510739G>A | CA354339040 | UROC1 | c.182C>T (p.Ala61Val) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.126510739G>C | CA354339041 | UROC1 | c.182C>G (p.Ala61Gly) | |
| 3 | g.126510739G= | CA1399821813 | UROC1 | c.182C= (p.Ala61=) | |
| 3 | g.126510739G>T | CA354339042 | UROC1 | c.182C>A (p.Ala61Asp) | COSMIC COSMIC |