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 |
|---|---|---|---|---|---|
| 10 | g.94988979_94988982del | CA2610266834 | CYP2C9 | c.1424_1427del (p.Gly475ValfsTer?) c.*433_*436del (n.*433_*436del) | gnomAD v4 |
| 10 | g.94988982T>A | CA377677122 | CYP2C9 | c.1427T>A (p.Phe476Tyr) c.*436T>A (n.*436T>A) | |
| 10 | g.94988982T>C | CA377677123 | CYP2C9 | c.1427T>C (p.Phe476Ser) c.*436T>C (n.*436T>C) | |
| 10 | g.94988982T>G | CA377677124 | CYP2C9 | c.1427T>G (p.Phe476Cys) c.*436T>G (n.*436T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94988982T= | CA1929349817 | CYP2C9 | c.1427T= (p.Phe476=) c.*436T= (n.*436T=) | |
| 10 | g.94988983T>A | CA377677125 | CYP2C9 | c.1428T>A (p.Phe476Leu) c.*437T>A (n.*437T>A) | |
| 10 | g.94988983T>C | CA470837433 | CYP2C9 | c.1428T>C (p.Phe476=) c.*437T>C (n.*437T>C) | |
| 10 | g.94988983T>G | CA377677126 | CYP2C9 | c.1428T>G (p.Phe476Leu) c.*437T>G (n.*437T>G) | |
| 10 | g.94988984G>A | CA5617418 | CYP2C9 | c.1429G>A (p.Ala477Thr) c.*438G>A (n.*438G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94988984G>C | CA377677127 | CYP2C9 | c.1429G>C (p.Ala477Pro) c.*438G>C (n.*438G>C) | |
| 10 | g.94988984G= | CA1929349818 | CYP2C9 | c.1429G= (p.Ala477=) c.*438G= (n.*438G=) | |
| 10 | g.94988984G>T | CA377677128 | CYP2C9 | c.1429G>T (p.Ala477Ser) c.*438G>T (n.*438G>T) | |
| 10 | g.94988984_94988986dup | CA2610266835 | CYP2C9 | c.1429_1431dup (p.Ala477_Ser478insAla) c.*438_*440dup (n.*438_*440dup) | gnomAD v4 |
| 10 | g.94988985C>A | CA377677129 | CYP2C9 | c.1430C>A (p.Ala477Asp) c.*439C>A (n.*439C>A) | |
| 10 | g.94988985C= | CA1929349819 | CYP2C9 | c.1430C= (p.Ala477=) c.*439C= (n.*439C=) | |
| 10 | g.94988985C>G | CA377677130 | CYP2C9 | c.1430C>G (p.Ala477Gly) c.*439C>G (n.*439C>G) | |
| 10 | g.94988985C>T | CA211735620 | CYP2C9 | c.1430C>T (p.Ala477Val) c.*439C>T (n.*439C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.94988986C>A | CA470837434 | CYP2C9 | c.1431C>A (p.Ala477=) c.*440C>A (n.*440C>A) | |
| 10 | g.94988986C>G | CA470837435 | CYP2C9 | c.1431C>G (p.Ala477=) c.*440C>G (n.*440C>G) | |
| 10 | g.94988986C>T | CA470837436 | CYP2C9 | c.1431C>T (p.Ala477=) c.*440C>T (n.*440C>T) | |
| 10 | g.94988987T>A | CA211735625 | CYP2C9 | c.1432T>A (p.Ser478Thr) c.*441T>A (n.*441T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94988987T>C | CA377677131 | CYP2C9 | c.1432T>C (p.Ser478Pro) c.*441T>C (n.*441T>C) | |
| 10 | g.94988987T>G | CA377677132 | CYP2C9 | c.1432T>G (p.Ser478Ala) c.*441T>G (n.*441T>G) | |
| 10 | g.94988987T= | CA1929349820 | CYP2C9 | c.1432T= (p.Ser478=) c.*441T= (n.*441T=) | |
| 10 | g.94988988C>A | CA377677133 | CYP2C9 | c.1433C>A (p.Ser478Tyr) c.*442C>A (n.*442C>A) | |
| 10 | g.94988988C>G | CA377677134 | CYP2C9 | c.1433C>G (p.Ser478Cys) c.*442C>G (n.*442C>G) | |
| 10 | g.94988988C>T | CA377677135 | CYP2C9 | c.1433C>T (p.Ser478Phe) c.*442C>T (n.*442C>T) | |
| 10 | g.94988989T>A | CA470837437 | CYP2C9 | c.1434T>A (p.Ser478=) c.*443T>A (n.*443T>A) | |
| 10 | g.94988989T>C | CA470837438 | CYP2C9 | c.1434T>C (p.Ser478=) c.*443T>C (n.*443T>C) | |
| 10 | g.94988989T>G | CA470837439 | CYP2C9 | c.1434T>G (p.Ser478=) c.*443T>G (n.*443T>G) | |
| 10 | g.94988990G>A | CA377677137 | CYP2C9 | c.1435G>A (p.Val479Met) c.*444G>A (n.*444G>A) | |
| 10 | g.94988990G>C | CA377677136 | CYP2C9 | c.1435G>C (p.Val479Leu) c.*444G>C (n.*444G>C) | |
| 10 | g.94988990G= | CA1929349821 | CYP2C9 | c.1435G= (p.Val479=) c.*444G= (n.*444G=) | |
| 10 | g.94988990G>T | CA5617419 | CYP2C9 | c.1435G>T (p.Val479Leu) c.*444G>T (n.*444G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.94988991T>A | CA377677138 | CYP2C9 | c.1436T>A (p.Val479Glu) c.*445T>A (n.*445T>A) | |
| 10 | g.94988991T>C | CA377677139 | CYP2C9 | c.1436T>C (p.Val479Ala) c.*445T>C (n.*445T>C) | |
| 10 | g.94988991T>G | CA377677140 | CYP2C9 | c.1436T>G (p.Val479Gly) c.*445T>G (n.*445T>G) | |
| 10 | g.94988992G>A | CA470837440 | CYP2C9 | c.1437G>A (p.Val479=) c.*446G>A (n.*446G>A) | dbSNP gnomAD v2 |
| 10 | g.94988992G>C | CA470837441 | CYP2C9 | c.1437G>C (p.Val479=) c.*446G>C (n.*446G>C) | |
| 10 | g.94988992G= | CA1929349822 | CYP2C9 | c.1437G= (p.Val479=) c.*446G= (n.*446G=) | |
| 10 | g.94988992G>T | CA470837442 | CYP2C9 | c.1437G>T (p.Val479=) c.*446G>T (n.*446G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.94988993C>A | CA377677141 | CYP2C9 | c.1438C>A (p.Pro480Thr) c.*447C>A (n.*447C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.94988993C= | CA1929349823 | CYP2C9 | c.1438C= (p.Pro480=) c.*447C= (n.*447C=) | |
| 10 | g.94988993C>G | CA377677142 | CYP2C9 | c.1438C>G (p.Pro480Ala) c.*447C>G (n.*447C>G) | |
| 10 | g.94988993C>T | CA377677143 | CYP2C9 | c.1438C>T (p.Pro480Ser) c.*447C>T (n.*447C>T) | |
| 10 | g.94988994C>A | CA377677145 | CYP2C9 | c.1439C>A (p.Pro480Gln) c.*448C>A (n.*448C>A) | |
| 10 | g.94988994C= | CA1929349824 | CYP2C9 | c.1439C= (p.Pro480=) c.*448C= (n.*448C=) | |
| 10 | g.94988994C>G | CA377677144 | CYP2C9 | c.1439C>G (p.Pro480Arg) c.*448C>G (n.*448C>G) | dbSNP |
| 10 | g.94988994C>T | CA5617420 | CYP2C9 | c.1439C>T (p.Pro480Leu) c.*448C>T (n.*448C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94988995G>A | CA5617421 | CYP2C9 | c.1440G>A (p.Pro480=) c.*449G>A (n.*449G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94988995G>C | CA470837443 | CYP2C9 | c.1440G>C (p.Pro480=) c.*449G>C (n.*449G>C) | |
| 10 | g.94988995G= | CA1929349825 | CYP2C9 | c.1440G= (p.Pro480=) c.*449G= (n.*449G=) | |
| 10 | g.94988995G>T | CA470837444 | CYP2C9 | c.1440G>T (p.Pro480=) c.*449G>T (n.*449G>T) | |
| 10 | g.94988996C>A | CA377677146 | CYP2C9 | c.1441C>A (p.Pro481Thr) c.*450C>A (n.*450C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.94988996C= | CA1929349826 | CYP2C9 | c.1441C= (p.Pro481=) c.*450C= (n.*450C=) | |
| 10 | g.94988996C>G | CA377677147 | CYP2C9 | c.1441C>G (p.Pro481Ala) c.*450C>G (n.*450C>G) | |
| 10 | g.94988996C>T | CA377677148 | CYP2C9 | c.1441C>T (p.Pro481Ser) c.*450C>T (n.*450C>T) | dbSNP |
| 10 | g.94988997C>A | CA377677149 | CYP2C9 | c.1442C>A (p.Pro481His) c.*451C>A (n.*451C>A) | |
| 10 | g.94988997C>G | CA377677150 | CYP2C9 | c.1442C>G (p.Pro481Arg) c.*451C>G (n.*451C>G) | |
| 10 | g.94988997C>T | CA377677151 | CYP2C9 | c.1442C>T (p.Pro481Leu) c.*451C>T (n.*451C>T) | gnomAD v4 |
| 10 | g.94988998C>A | CA470837445 | CYP2C9 | c.1443C>A (p.Pro481=) c.*452C>A (n.*452C>A) | gnomAD v4 |
| 10 | g.94988998C= | CA1929349827 | CYP2C9 | c.1443C= (p.Pro481=) c.*452C= (n.*452C=) | |
| 10 | g.94988998C>G | CA470837446 | CYP2C9 | c.1443C>G (p.Pro481=) c.*452C>G (n.*452C>G) | |
| 10 | g.94988998C>T | CA470837447 | CYP2C9 | c.1443C>T (p.Pro481=) c.*452C>T (n.*452C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94988999T>A | CA377677152 | CYP2C9 | c.1444T>A (p.Phe482Ile) c.*453T>A (n.*453T>A) | |
| 10 | g.94988999T>C | CA377677153 | CYP2C9 | c.1444T>C (p.Phe482Leu) c.*453T>C (n.*453T>C) | |
| 10 | g.94988999T>G | CA377677154 | CYP2C9 | c.1444T>G (p.Phe482Val) c.*453T>G (n.*453T>G) | |
| 10 | g.94989000T>A | CA377677155 | CYP2C9 | c.1445T>A (p.Phe482Tyr) c.*454T>A (n.*454T>A) | |
| 10 | g.94989000T>C | CA377677156 | CYP2C9 | c.1445T>C (p.Phe482Ser) c.*454T>C (n.*454T>C) | |
| 10 | g.94989000T>G | CA377677157 | CYP2C9 | c.1445T>G (p.Phe482Cys) c.*454T>G (n.*454T>G) | |
| 10 | g.94989000_94989007delinsTCTACCAG | CA1929349828 | CYP2C9 | c.1445_1452delinsTCTACCAG (p.Phe482=) c.*454_*461delinsTCTACCAG (n.*454_*461delinsTCTACCAG) | |
| 10 | g.94989001C>A | CA377677158 | CYP2C9 | c.1446C>A (p.Phe482Leu) c.*455C>A (n.*455C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.94989001C= | CA1929349829 | CYP2C9 | c.1446C= (p.Phe482=) c.*455C= (n.*455C=) | |
| 10 | g.94989001C>G | CA377677159 | CYP2C9 | c.1446C>G (p.Phe482Leu) c.*455C>G (n.*455C>G) | gnomAD v4 |
| 10 | g.94989001C>T | CA470837448 | CYP2C9 | c.1446C>T (p.Phe482=) c.*455C>T (n.*455C>T) | dbSNP gnomAD v4 COSMIC |
| 10 | g.94989003_94989009del | CA5617422 | CYP2C9 | c.1448_1454del (p.Tyr483CysfsTer?) c.*457_*463del (n.*457_*463del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.94989002T>A | CA377677160 | CYP2C9 | c.1447T>A (p.Tyr483Asn) c.*456T>A (n.*456T>A) | |
| 10 | g.94989002T>C | CA377677161 | CYP2C9 | c.1447T>C (p.Tyr483His) c.*456T>C (n.*456T>C) | gnomAD v4 |
| 10 | g.94989002T>G | CA377677162 | CYP2C9 | c.1447T>G (p.Tyr483Asp) c.*456T>G (n.*456T>G) | |
| 10 | g.94989003A>C | CA377677163 | CYP2C9 | c.1448A>C (p.Tyr483Ser) c.*457A>C (n.*457A>C) | |
| 10 | g.94989003A>G | CA377677164 | CYP2C9 | c.1448A>G (p.Tyr483Cys) c.*457A>G (n.*457A>G) | |
| 10 | g.94989003A>T | CA377677165 | CYP2C9 | c.1448A>T (p.Tyr483Phe) c.*457A>T (n.*457A>T) | |
| 10 | g.94989004C>A | CA377677166 | CYP2C9 | c.1449C>A (p.Tyr483Ter) c.*458C>A (n.*458C>A) | |
| 10 | g.94989004C>G | CA377677167 | CYP2C9 | c.1449C>G (p.Tyr483Ter) c.*458C>G (n.*458C>G) | |
| 10 | g.94989004C>T | CA470837449 | CYP2C9 | c.1449C>T (p.Tyr483=) c.*458C>T (n.*458C>T) | dbSNP |
| 10 | g.94989005C>A | CA377677168 | CYP2C9 | c.1450C>A (p.Gln484Lys) c.*459C>A (n.*459C>A) | gnomAD v4 |
| 10 | g.94989005C= | CA1929349830 | CYP2C9 | c.1450C= (p.Gln484=) c.*459C= (n.*459C=) | |
| 10 | g.94989005C>G | CA377677169 | CYP2C9 | c.1450C>G (p.Gln484Glu) c.*459C>G (n.*459C>G) | |
| 10 | g.94989005C>T | CA5617423 | CYP2C9 | c.1450C>T (p.Gln484Ter) c.*459C>T (n.*459C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94989006A>C | CA377677172 | CYP2C9 | c.1451A>C (p.Gln484Pro) c.*460A>C (n.*460A>C) | gnomAD v4 |
| 10 | g.94989006A>G | CA377677171 | CYP2C9 | c.1451A>G (p.Gln484Arg) c.*460A>G (n.*460A>G) | |
| 10 | g.94989006A>T | CA377677170 | CYP2C9 | c.1451A>T (p.Gln484Leu) c.*460A>T (n.*460A>T) | |
| 10 | g.94989007G>A | CA470837450 | CYP2C9 | c.1452G>A (p.Gln484=) c.*461G>A (n.*461G>A) | |
| 10 | g.94989007G>C | CA377677173 | CYP2C9 | c.1452G>C (p.Gln484His) c.*461G>C (n.*461G>C) | |
| 10 | g.94989007G>T | CA377677174 | CYP2C9 | c.1452G>T (p.Gln484His) c.*461G>T (n.*461G>T) | |
| 10 | g.94989008C>A | CA377677175 | CYP2C9 | c.1453C>A (p.Leu485Met) c.*462C>A (n.*462C>A) | gnomAD v4 |
| 10 | g.94989008C= | CA1929349831 | CYP2C9 | c.1453C= (p.Leu485=) c.*462C= (n.*462C=) | |
| 10 | g.94989008C>G | CA377677176 | CYP2C9 | c.1453C>G (p.Leu485Val) c.*462C>G (n.*462C>G) | |
| 10 | g.94989008C>T | CA470837451 | CYP2C9 | c.1453C>T (p.Leu485=) c.*462C>T (n.*462C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.94989009T>A | CA377677177 | CYP2C9 | c.1454T>A (p.Leu485Gln) c.*463T>A (n.*463T>A) | |
| 10 | g.94989009T>C | CA377677178 | CYP2C9 | c.1454T>C (p.Leu485Pro) c.*463T>C (n.*463T>C) | |
| 10 | g.94989009T>G | CA377677179 | CYP2C9 | c.1454T>G (p.Leu485Arg) c.*463T>G (n.*463T>G) | |
| 10 | g.94989010G>A | CA470837452 | CYP2C9 | c.1455G>A (p.Leu485=) c.*464G>A (n.*464G>A) | |
| 10 | g.94989010G>C | CA470837454 | CYP2C9 | c.1455G>C (p.Leu485=) c.*464G>C (n.*464G>C) | gnomAD v4 |
| 10 | g.94989010G>T | CA470837453 | CYP2C9 | c.1455G>T (p.Leu485=) c.*464G>T (n.*464G>T) | |
| 10 | g.94989011T>A | CA377677180 | CYP2C9 | c.1456T>A (p.Cys486Ser) c.*465T>A (n.*465T>A) | |
| 10 | g.94989011T>C | CA377677181 | CYP2C9 | c.1456T>C (p.Cys486Arg) c.*465T>C (n.*465T>C) | gnomAD v4 |
| 10 | g.94989011T>G | CA377677182 | CYP2C9 | c.1456T>G (p.Cys486Gly) c.*465T>G (n.*465T>G) | |
| 10 | g.94989012G>A | CA211735641 | CYP2C9 | c.1457G>A (p.Cys486Tyr) c.*466G>A (n.*466G>A) | dbSNP gnomAD v4 |
| 10 | g.94989012G>C | CA377677183 | CYP2C9 | c.1457G>C (p.Cys486Ser) c.*466G>C (n.*466G>C) | |
| 10 | g.94989012G= | CA1929349832 | CYP2C9 | c.1457G= (p.Cys486=) c.*466G= (n.*466G=) | |
| 10 | g.94989012G>T | CA377677184 | CYP2C9 | c.1457G>T (p.Cys486Phe) c.*466G>T (n.*466G>T) | gnomAD v4 |
| 10 | g.94989013C>A | CA377677186 | CYP2C9 | c.1458C>A (p.Cys486Ter) c.*467C>A (n.*467C>A) | |
| 10 | g.94989013C>G | CA377677185 | CYP2C9 | c.1458C>G (p.Cys486Trp) c.*467C>G (n.*467C>G) | |
| 10 | g.94989013C>T | CA470837455 | CYP2C9 | c.1458C>T (p.Cys486=) c.*467C>T (n.*467C>T) | |
| 10 | g.94989014T>A | CA377677187 | CYP2C9 | c.1459T>A (p.Phe487Ile) c.*468T>A (n.*468T>A) | |
| 10 | g.94989014T>C | CA377677189 | CYP2C9 | c.1459T>C (p.Phe487Leu) c.*468T>C (n.*468T>C) | |
| 10 | g.94989014T>G | CA377677188 | CYP2C9 | c.1459T>G (p.Phe487Val) c.*468T>G (n.*468T>G) | |
| 10 | g.94989015T>A | CA377677190 | CYP2C9 | c.1460T>A (p.Phe487Tyr) c.*469T>A (n.*469T>A) | |
| 10 | g.94989015T>C | CA377677191 | CYP2C9 | c.1460T>C (p.Phe487Ser) c.*469T>C (n.*469T>C) | |
| 10 | g.94989015T>G | CA377677192 | CYP2C9 | c.1460T>G (p.Phe487Cys) c.*469T>G (n.*469T>G) | |
| 10 | g.94989016C>A | CA377677193 | CYP2C9 | c.1461C>A (p.Phe487Leu) c.*470C>A (n.*470C>A) | |
| 10 | g.94989016C>G | CA377677194 | CYP2C9 | c.1461C>G (p.Phe487Leu) c.*470C>G (n.*470C>G) | |
| 10 | g.94989016C>T | CA470837456 | CYP2C9 | c.1461C>T (p.Phe487=) c.*470C>T (n.*470C>T) | COSMIC |
| 10 | g.94989017A= | CA1929349833 | CYP2C9 | c.1462A= (p.Ile488=) c.*471A= (n.*471A=) | |
| 10 | g.94989017A>C | CA377677195 | CYP2C9 | c.1462A>C (p.Ile488Leu) c.*471A>C (n.*471A>C) | |
| 10 | g.94989017A>G | CA377677196 | CYP2C9 | c.1462A>G (p.Ile488Val) c.*471A>G (n.*471A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.94989017A>T | CA377677197 | CYP2C9 | c.1462A>T (p.Ile488Phe) c.*471A>T (n.*471A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.94989018T>A | CA377677198 | CYP2C9 | c.1463T>A (p.Ile488Asn) c.*472T>A (n.*472T>A) | |
| 10 | g.94989018T>C | CA377677199 | CYP2C9 | c.1463T>C (p.Ile488Thr) c.*472T>C (n.*472T>C) | |
| 10 | g.94989018T>G | CA377677200 | CYP2C9 | c.1463T>G (p.Ile488Ser) c.*472T>G (n.*472T>G) | |
| 10 | g.94989019T>A | CA470837457 | CYP2C9 | c.1464T>A (p.Ile488=) c.*473T>A (n.*473T>A) | dbSNP |
| 10 | g.94989019T>C | CA470837458 | CYP2C9 | c.1464T>C (p.Ile488=) c.*473T>C (n.*473T>C) | |
| 10 | g.94989019T>G | CA377677201 | CYP2C9 | c.1464T>G (p.Ile488Met) c.*473T>G (n.*473T>G) | |
| 10 | g.94989019T= | CA1929349834 | CYP2C9 | c.1464T= (p.Ile488=) c.*473T= (n.*473T=) | |
| 10 | g.94989020C>A | CA377677203 | CYP2C9 | c.1465C>A (p.Pro489Thr) c.*474C>A (n.*474C>A) | |
| 10 | g.94989020C= | CA1929349835 | CYP2C9 | c.1465C= (p.Pro489=) c.*474C= (n.*474C=) | |
| 10 | g.94989020C>G | CA377677202 | CYP2C9 | c.1465C>G (p.Pro489Ala) c.*474C>G (n.*474C>G) | gnomAD v4 |
| 10 | g.94989020C>T | CA5617424 | CYP2C9 | c.1465C>T (p.Pro489Ser) c.*474C>T (n.*474C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94989021C>A | CA377677204 | CYP2C9 | c.1466C>A (p.Pro489His) c.*475C>A (n.*475C>A) | |
| 10 | g.94989021C>G | CA377677205 | CYP2C9 | c.1466C>G (p.Pro489Arg) c.*475C>G (n.*475C>G) | |
| 10 | g.94989021C>T | CA377677206 | CYP2C9 | c.1466C>T (p.Pro489Leu) c.*475C>T (n.*475C>T) | |
| 10 | g.94989022T>A | CA470837459 | CYP2C9 | c.1467T>A (p.Pro489=) c.*476T>A (n.*476T>A) | |
| 10 | g.94989022T>C | CA470837460 | CYP2C9 | c.1467T>C (p.Pro489=) c.*476T>C (n.*476T>C) | |
| 10 | g.94989022T>G | CA470837461 | CYP2C9 | c.1467T>G (p.Pro489=) c.*476T>G (n.*476T>G) | gnomAD v4 |
| 10 | g.94989023G>A | CA377677207 | CYP2C9 | c.1468G>A (p.Val490Ile) c.*477G>A (n.*477G>A) | gnomAD v4 |
| 10 | g.94989023G>C | CA377677208 | CYP2C9 | c.1468G>C (p.Val490Leu) c.*477G>C (n.*477G>C) | gnomAD v4 |
| 10 | g.94989023G= | CA1929349836 | CYP2C9 | c.1468G= (p.Val490=) c.*477G= (n.*477G=) | |
| 10 | g.94989023G>T | CA211735668 | CYP2C9 | c.1468G>T (p.Val490Phe) c.*477G>T (n.*477G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94989024T>A | CA377677209 | CYP2C9 | c.1469T>A (p.Val490Asp) c.*478T>A (n.*478T>A) | |
| 10 | g.94989024T>C | CA377677210 | CYP2C9 | c.1469T>C (p.Val490Ala) c.*478T>C (n.*478T>C) | |
| 10 | g.94989024T>G | CA377677211 | CYP2C9 | c.1469T>G (p.Val490Gly) c.*478T>G (n.*478T>G) | |
| 10 | g.94989025C>A | CA470837462 | CYP2C9 | c.1470C>A (p.Val490=) c.*479C>A (n.*479C>A) | COSMIC |
| 10 | g.94989025C>G | CA470837464 | CYP2C9 | c.1470C>G (p.Val490=) c.*479C>G (n.*479C>G) | gnomAD v4 |
| 10 | g.94989025C>T | CA470837463 | CYP2C9 | c.1470C>T (p.Val490=) c.*479C>T (n.*479C>T) | |
| 10 | g.94989026T>A | CA211735677 | CYP2C9 | c.1471T>A (p.Ter491Arg) c.*480T>A (n.*480T>A) | dbSNP |
| 10 | g.94989026T>C | CA377677212 | CYP2C9 | c.1471T>C (p.Ter491Arg) c.*480T>C (n.*480T>C) | |
| 10 | g.94989026T>G | CA377677213 | CYP2C9 | c.1471T>G (p.Ter491Gly) c.*480T>G (n.*480T>G) | |
| 10 | g.94989026T= | CA1929349837 | CYP2C9 | c.1471T= (p.Ter491=) c.*480T= (n.*480T=) | |
| 10 | g.94989027G>A | CA470837465 | CYP2C9 | c.1472G>A (p.Ter491=) c.*481G>A (n.*481G>A) | COSMIC |
| 10 | g.94989027G>C | CA377677215 | CYP2C9 | c.1472G>C (p.Ter491Ser) c.*481G>C (n.*481G>C) | |
| 10 | g.94989027G>T | CA377677214 | CYP2C9 | c.1472G>T (p.Ter491Leu) c.*481G>T (n.*481G>T) | |
| 10 | g.94989028A>C | CA377677216 | CYP2C9 | c.1473A>C (p.Ter491Cys) c.*482A>C (n.*482A>C) | |
| 10 | g.94989028A>G | CA377677218 | CYP2C9 | c.1473A>G (p.Ter491Trp) c.*482A>G (n.*482A>G) | |
| 10 | g.94989028A>T | CA377677217 | CYP2C9 | c.1473A>T (p.Ter491Cys) c.*482A>T (n.*482A>T) | |
| 10 | g.94989030G>A | CA5617425 | CYP2C9 | c.*2G>A (n.*2G>A) c.*484G>A (n.*484G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94989030G= | CA1929349838 | CYP2C9 | c.*2G= (n.*2G=) c.*484G= (n.*484G=) | |
| 10 | g.94989031A= | CA1929349839 | CYP2C9 | c.*3A= (n.*3A=) c.*485A= (n.*485A=) | |
| 10 | g.94989032A= | CA1929349840 | CYP2C9 | c.*4A= (n.*4A=) c.*486A= (n.*486A=) | |
| 10 | g.94989032A>G | CA670187888 | CYP2C9 | c.*4A>G (n.*4A>G) c.*486A>G (n.*486A>G) | dbSNP gnomAD v4 |
| 10 | g.94989035_94989039dup | CA931385785 | CYP2C9 | c.*7_*11dup (n.*7_*11dup) c.*489_*493dup (n.*489_*493dup) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.94989033G>A | CA5617426 | CYP2C9 | c.*5G>A (n.*5G>A) c.*487G>A (n.*487G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.94989033G= | CA1929349841 | CYP2C9 | c.*5G= (n.*5G=) c.*487G= (n.*487G=) | |
| 10 | g.94989033G>T | CA2610266836 | CYP2C9 | c.*5G>T (n.*5G>T) c.*487G>T (n.*487G>T) | gnomAD v4 |
| 10 | g.94989035G>A | CA595638881 | CYP2C9 | c.*7G>A (n.*7G>A) c.*489G>A (n.*489G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.94989035G>C | CA5617427 | CYP2C9 | c.*7G>C (n.*7G>C) c.*489G>C (n.*489G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94989035G= | CA1929349842 | CYP2C9 | c.*7G= (n.*7G=) c.*489G= (n.*489G=) | |
| 10 | g.94989036C= | CA1929349843 | CYP2C9 | c.*8C= (n.*8C=) c.*490C= (n.*490C=) | |
| 10 | g.94989036C>T | CA595638882 | CYP2C9 | c.*8C>T (n.*8C>T) c.*490C>T (n.*490C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.94989037A>T | CA2741119221 | CYP2C9 | c.*9A>T (n.*9A>T) c.*491A>T (n.*491A>T) | |
| 10 | g.94989038G= | CA1929349844 | CYP2C9 | c.*10G= (n.*10G=) c.*492G= (n.*492G=) | |
| 10 | g.94989038G>T | CA211735703 | CYP2C9 | c.*10G>T (n.*10G>T) c.*492G>T (n.*492G>T) | dbSNP gnomAD v4 |
| 10 | g.94989040T>A | CA2722352801 | CYP2C9 | c.*12T>A (n.*12T>A) c.*494T>A (n.*494T>A) | dbSNP |
| 10 | g.94989040T>C | CA670187901 | CYP2C9 | c.*12T>C (n.*12T>C) c.*494T>C (n.*494T>C) | dbSNP |
| 10 | g.94989040T= | CA1929349845 | CYP2C9 | c.*12T= (n.*12T=) c.*494T= (n.*494T=) | |
| 10 | g.94989043C>A | CA2610266837 | CYP2C9 | c.*15C>A (n.*15C>A) c.*497C>A (n.*497C>A) | gnomAD v4 |
| 10 | g.94989044C>T | CA2574622607 | CYP2C9 | c.*16C>T (n.*16C>T) c.*498C>T (n.*498C>T) | gnomAD v4 |
| 10 | g.94989047del | CA2610266838 | CYP2C9 | c.*19del (n.*19del) c.*501del (n.*501del) | gnomAD v4 |
| 10 | g.94989054_94989056del | CA2610266839 | CYP2C9 | c.*26_*28del (n.*26_*28del) c.*508_*510del (n.*508_*510del) | gnomAD v4 |
| 10 | g.94989049T>G | CA595638883 | CYP2C9 | c.*21T>G (n.*21T>G) c.*503T>G (n.*503T>G) | dbSNP gnomAD v2 |
| 10 | g.94989049T= | CA1929349846 | CYP2C9 | c.*21T= (n.*21T=) c.*503T= (n.*503T=) | |
| 10 | g.94989050G>A | CA2610266840 | CYP2C9 | c.*22G>A (n.*22G>A) c.*504G>A (n.*504G>A) | gnomAD v4 |
| 10 | g.94989051C>A | CA2610266841 | CYP2C9 | c.*23C>A (n.*23C>A) c.*505C>A (n.*505C>A) | gnomAD v4 |
| 10 | g.94989051C= | CA1929349847 | CYP2C9 | c.*23C= (n.*23C=) c.*505C= (n.*505C=) | |
| 10 | g.94989051C>T | CA1929349848 | CYP2C9 | c.*23C>T (n.*23C>T) c.*505C>T (n.*505C>T) | dbSNP gnomAD v4 |
| 10 | g.94989052T>A | CA595638884 | CYP2C9 | c.*24T>A (n.*24T>A) c.*506T>A (n.*506T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.94989052T>C | CA5617428 | CYP2C9 | c.*24T>C (n.*24T>C) c.*506T>C (n.*506T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94989052T= | CA1929349849 | CYP2C9 | c.*24T= (n.*24T=) c.*506T= (n.*506T=) | |
| 10 | g.94989053G>A | CA1929349851 | CYP2C9 | c.*25G>A (n.*25G>A) c.*507G>A (n.*507G>A) | dbSNP |
| 10 | g.94989053G= | CA1929349850 | CYP2C9 | c.*25G= (n.*25G=) c.*507G= (n.*507G=) | |
| 10 | g.94989053G>T | CA2574622608 | CYP2C9 | c.*25G>T (n.*25G>T) c.*507G>T (n.*507G>T) | |
| 10 | g.94989054C>A | CA5617430 | CYP2C9 | c.*26C>A (n.*26C>A) c.*508C>A (n.*508C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.94989054C= | CA1929349852 | CYP2C9 | c.*26C= (n.*26C=) c.*508C= (n.*508C=) | |
| 10 | g.94989054C>T | CA5617429 | CYP2C9 | c.*26C>T (n.*26C>T) c.*508C>T (n.*508C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.94989055T>A | CA2574622609 | CYP2C9 | c.*27T>A (n.*27T>A) c.*509T>A (n.*509T>A) | gnomAD v4 |
| 10 | g.94989055T>C | CA2610266842 | CYP2C9 | c.*27T>C (n.*27T>C) c.*509T>C (n.*509T>C) | gnomAD v4 |
| 10 | g.94989056G>A | CA653577593 | CYP2C9 | c.*28G>A (n.*28G>A) c.*510G>A (n.*510G>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.94989056G= | CA1929349853 | CYP2C9 | c.*28G= (n.*28G=) c.*510G= (n.*510G=) | |
| 10 | g.94989057T>G | CA2610266843 | CYP2C9 | c.*29T>G (n.*29T>G) c.*511T>G (n.*511T>G) | gnomAD v4 |
| 10 | g.94989058G>A | CA2610266844 | CYP2C9 | c.*30G>A (n.*30G>A) c.*512G>A (n.*512G>A) | gnomAD v4 |
| 10 | g.94989059C= | CA1929349854 | CYP2C9 | c.*31C= (n.*31C=) c.*513C= (n.*513C=) | |
| 10 | g.94989059C>T | CA5617431 | CYP2C9 | c.*31C>T (n.*31C>T) c.*513C>T (n.*513C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94989060A>C | CA2610266845 | CYP2C9 | c.*32A>C (n.*32A>C) c.*514A>C (n.*514A>C) | gnomAD v4 |
| 10 | g.94989061G>A | CA5617432 | CYP2C9 | c.*33G>A (n.*33G>A) c.*515G>A (n.*515G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94989061G>C | CA2610266846 | CYP2C9 | c.*33G>C (n.*33G>C) c.*515G>C (n.*515G>C) | gnomAD v4 |
| 10 | g.94989061G= | CA1929349855 | CYP2C9 | c.*33G= (n.*33G=) c.*515G= (n.*515G=) | |
| 10 | g.94989063C>A | CA5617433 | CYP2C9 | c.*35C>A (n.*35C>A) c.*517C>A (n.*517C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94989063C= | CA1929349856 | CYP2C9 | c.*35C= (n.*35C=) c.*517C= (n.*517C=) | |
| 10 | g.94989063C>G | CA595638885 | CYP2C9 | c.*35C>G (n.*35C>G) c.*517C>G (n.*517C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.94989063C>T | CA2610266847 | CYP2C9 | c.*35C>T (n.*35C>T) c.*517C>T (n.*517C>T) | gnomAD v4 |
| 10 | g.94989067G>A | CA1929349858 | CYP2C9 | c.*39G>A (n.*39G>A) c.*521G>A (n.*521G>A) | dbSNP |
| 10 | g.94989067G= | CA1929349857 | CYP2C9 | c.*39G= (n.*39G=) c.*521G= (n.*521G=) | |
| 10 | g.94989067G>T | CA595638886 | CYP2C9 | c.*39G>T (n.*39G>T) c.*521G>T (n.*521G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.94989067_94989068insT | CA653577600 | CYP2C9 | c.*39_*40insT (n.*39_*40insT) c.*521_*522insT (n.*521_*522insT) | COSMIC |
| 10 | g.94989068C= | CA1929349859 | CYP2C9 | c.*40C= (n.*40C=) c.*522C= (n.*522C=) | |
| 10 | g.94989068C>T | CA5617434 | CYP2C9 | c.*40C>T (n.*40C>T) c.*522C>T (n.*522C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.94989068_94989069delinsCA | CA1929349860 | CYP2C9 | c.*40_*41delinsCA (n.*40_*41delinsCA) c.*522_*523delinsCA (n.*522_*523delinsCA) | |
| 10 | g.94989069del | CA595638887 | CYP2C9 | c.*41del (n.*41del) c.*523del (n.*523del) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.94989069A= | CA1929349861 | CYP2C9 | c.*41A= (n.*41A=) c.*523A= (n.*523A=) | |
| 10 | g.94989069A>G | CA211735734 | CYP2C9 | c.*41A>G (n.*41A>G) c.*523A>G (n.*523A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.94989070G>A | CA2610266848 | CYP2C9 | c.*42G>A (n.*42G>A) c.*524G>A (n.*524G>A) | gnomAD v4 |
| 10 | g.94989070G>C | CA2574622610 | CYP2C9 | c.*42G>C (n.*42G>C) c.*524G>C (n.*524G>C) | |
| 10 | g.94989070G>T | CA2610266849 | CYP2C9 | c.*42G>T (n.*42G>T) c.*524G>T (n.*524G>T) | gnomAD v4 |
| 10 | g.94989071C= | CA1929349862 | CYP2C9 | c.*43C= (n.*43C=) c.*525C= (n.*525C=) | |
| 10 | g.94989071C>T | CA595638888 | CYP2C9 | c.*43C>T (n.*43C>T) c.*525C>T (n.*525C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.94989075_94989076del | CA2610266850 | CYP2C9 | c.*47_*48del (n.*47_*48del) c.*529_*530del (n.*529_*530del) | gnomAD v4 |
| 10 | g.94989072T>A | CA931385797 | CYP2C9 | c.*44T>A (n.*44T>A) c.*526T>A (n.*526T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.94989072T= | CA1929349863 | CYP2C9 | c.*44T= (n.*44T=) c.*526T= (n.*526T=) | |
| 10 | g.94989073C>A | CA1929349864 | CYP2C9 | c.*45C>A (n.*45C>A) c.*527C>A (n.*527C>A) | dbSNP gnomAD v4 |
| 10 | g.94989073C= | CA1929349865 | CYP2C9 | c.*45C= (n.*45C=) c.*527C= (n.*527C=) | |
| 10 | g.94989073C>G | CA2722385560 | CYP2C9 | c.*45C>G (n.*45C>G) c.*527C>G (n.*527C>G) | dbSNP |
| 10 | g.94989073C>T | CA931385805 | CYP2C9 | c.*45C>T (n.*45C>T) c.*527C>T (n.*527C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.94989074del | CA2610266851 | CYP2C9 | c.*46del (n.*46del) c.*528del (n.*528del) | gnomAD v4 |
| 10 | g.94989076T>C | CA5617435 | CYP2C9 | c.*48T>C (n.*48T>C) c.*530T>C (n.*530T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94989076T= | CA1929349866 | CYP2C9 | c.*48T= (n.*48T=) c.*530T= (n.*530T=) | |
| 10 | g.94989076_94989077insA | CA653577605 | CYP2C9 | c.*48_*49insA (n.*48_*49insA) c.*530_*531insA (n.*530_*531insA) | COSMIC |
| 10 | g.94989079C= | CA1929349867 | CYP2C9 | c.*51C= (n.*51C=) c.*533C= (n.*533C=) | |
| 10 | g.94989079C>T | CA211735736 | CYP2C9 | c.*51C>T (n.*51C>T) c.*533C>T (n.*533C>T) | dbSNP |
| 10 | g.94989080C= | CA1929349868 | CYP2C9 | c.*52C= (n.*52C=) c.*534C= (n.*534C=) | |
| 10 | g.94989080C>T | CA5617436 | CYP2C9 | c.*52C>T (n.*52C>T) c.*534C>T (n.*534C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94989082C>A | CA2532606100 | CYP2C9 | c.*54C>A (n.*54C>A) c.*536C>A (n.*536C>A) | |
| 10 | g.94989082C= | CA1929349869 | CYP2C9 | c.*54C= (n.*54C=) c.*536C= (n.*536C=) | |
| 10 | g.94989082C>G | CA931385813 | CYP2C9 | c.*54C>G (n.*54C>G) c.*536C>G (n.*536C>G) | dbSNP gnomAD v3 gnomAD v4 |