Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.71435448delCA2838257456DHCR7c.1356del (p.Ser453AlafsTer28)
c.1182del (p.Ser395AlafsTer?)
c.1407del (p.Ser470AlafsTer28)
c.1392del (p.Ser465AlafsTer28)
c.*119del (n.*119del)
n.1396del
c.771del (p.Ser258AlafsTer28)
c.1260del (p.Ser421AlafsTer28)
c.857del (n.857del)
c.606del (p.Ser203AlafsTer?)
c.319+2365del
11g.71435448G>ACA381700664DHCR7c.1355C>T (p.Ala452Val)
c.1181C>T (p.Ala394Val)
c.1406C>T (p.Ala469Val)
c.1391C>T (p.Ala464Val)
c.*118C>T (n.*118C>T)
n.1395C>T
c.770C>T (p.Ala257Val)
c.1259C>T (p.Ala420Val)
c.856C>T (n.856C>T)
c.605C>T (p.Ala202Val)
c.319+2364C>T
11g.71435448G>CCA381700666DHCR7c.1355C>G (p.Ala452Gly)
c.1181C>G (p.Ala394Gly)
c.1406C>G (p.Ala469Gly)
c.1391C>G (p.Ala464Gly)
c.*118C>G (n.*118C>G)
n.1395C>G
c.770C>G (p.Ala257Gly)
c.1259C>G (p.Ala420Gly)
c.856C>G (n.856C>G)
c.605C>G (p.Ala202Gly)
c.319+2364C>G
11g.71435448G>TCA381700668DHCR7c.1355C>A (p.Ala452Asp)
c.1181C>A (p.Ala394Asp)
c.1406C>A (p.Ala469Asp)
c.1391C>A (p.Ala464Asp)
c.*118C>A (n.*118C>A)
n.1395C>A
c.770C>A (p.Ala257Asp)
c.1259C>A (p.Ala420Asp)
c.856C>A (n.856C>A)
c.605C>A (p.Ala202Asp)
c.319+2364C>A
 gnomAD v4
11g.71435449C>ACA381700671DHCR7c.1354G>T (p.Ala452Ser)
c.1180G>T (p.Ala394Ser)
c.1405G>T (p.Ala469Ser)
c.1390G>T (p.Ala464Ser)
c.*117G>T (n.*117G>T)
n.1394G>T
c.769G>T (p.Ala257Ser)
c.1258G>T (p.Ala420Ser)
c.855G>T (n.855G>T)
c.604G>T (p.Ala202Ser)
c.319+2363G>T
 gnomAD v4
11g.71435449C=CA1981486819DHCR7c.1354G= (p.Ala452=)
c.1180G= (p.Ala394=)
c.1405G= (p.Ala469=)
c.1390G= (p.Ala464=)
c.*117G= (n.*117G=)
n.1394G=
c.769G= (p.Ala257=)
c.1258G= (p.Ala420=)
c.855G= (n.855G=)
c.604G= (p.Ala202=)
c.319+2363G=
11g.71435449C>GCA381700669DHCR7c.1354G>C (p.Ala452Pro)
c.1180G>C (p.Ala394Pro)
c.1405G>C (p.Ala469Pro)
c.1390G>C (p.Ala464Pro)
c.*117G>C (n.*117G>C)
n.1394G>C
c.769G>C (p.Ala257Pro)
c.1258G>C (p.Ala420Pro)
c.855G>C (n.855G>C)
c.604G>C (p.Ala202Pro)
c.319+2363G>C
11g.71435449C>TCA6162250DHCR7c.1354G>A (p.Ala452Thr)
c.1180G>A (p.Ala394Thr)
c.1405G>A (p.Ala469Thr)
c.1390G>A (p.Ala464Thr)
c.*117G>A (n.*117G>A)
n.1394G>A
c.769G>A (p.Ala257Thr)
c.1258G>A (p.Ala420Thr)
c.855G>A (n.855G>A)
c.604G>A (p.Ala202Thr)
c.319+2363G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435450G>ACA224323876DHCR7c.1353C>T (p.Cys451=)
c.1179C>T (p.Cys393=)
c.1404C>T (p.Cys468=)
c.1389C>T (p.Cys463=)
c.*116C>T (n.*116C>T)
n.1393C>T
c.768C>T (p.Cys256=)
c.1257C>T (p.Cys419=)
c.854C>T (n.854C>T)
c.603C>T (p.Cys201=)
c.319+2362C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435450G>CCA381700673DHCR7c.1353C>G (p.Cys451Trp)
c.1179C>G (p.Cys393Trp)
c.1404C>G (p.Cys468Trp)
c.1389C>G (p.Cys463Trp)
c.*116C>G (n.*116C>G)
n.1393C>G
c.768C>G (p.Cys256Trp)
c.1257C>G (p.Cys419Trp)
c.854C>G (n.854C>G)
c.603C>G (p.Cys201Trp)
c.319+2362C>G
11g.71435450G=CA1981486820DHCR7c.1353C= (p.Cys451=)
c.1179C= (p.Cys393=)
c.1404C= (p.Cys468=)
c.1389C= (p.Cys463=)
c.*116C= (n.*116C=)
n.1393C=
c.768C= (p.Cys256=)
c.1257C= (p.Cys419=)
c.854C= (n.854C=)
c.603C= (p.Cys201=)
c.319+2362C=
11g.71435450G>TCA381700675DHCR7c.1353C>A (p.Cys451Ter)
c.1179C>A (p.Cys393Ter)
c.1404C>A (p.Cys468Ter)
c.1389C>A (p.Cys463Ter)
c.*116C>A (n.*116C>A)
n.1393C>A
c.768C>A (p.Cys256Ter)
c.1257C>A (p.Cys419Ter)
c.854C>A (n.854C>A)
c.603C>A (p.Cys201Ter)
c.319+2362C>A
11g.71435451C>ACA381700677DHCR7c.1352G>T (p.Cys451Phe)
c.1178G>T (p.Cys393Phe)
c.1403G>T (p.Cys468Phe)
c.1388G>T (p.Cys463Phe)
c.*115G>T (n.*115G>T)
n.1392G>T
c.767G>T (p.Cys256Phe)
c.1256G>T (p.Cys419Phe)
c.853G>T (n.853G>T)
c.602G>T (p.Cys201Phe)
c.319+2361G>T
 ClinVar
11g.71435451C=CA1981486821DHCR7c.1352G= (p.Cys451=)
c.1178G= (p.Cys393=)
c.1403G= (p.Cys468=)
c.1388G= (p.Cys463=)
c.*115G= (n.*115G=)
n.1392G=
c.767G= (p.Cys256=)
c.1256G= (p.Cys419=)
c.853G= (n.853G=)
c.602G= (p.Cys201=)
c.319+2361G=
11g.71435451C>GCA381700679DHCR7c.1352G>C (p.Cys451Ser)
c.1178G>C (p.Cys393Ser)
c.1403G>C (p.Cys468Ser)
c.1388G>C (p.Cys463Ser)
c.*115G>C (n.*115G>C)
n.1392G>C
c.767G>C (p.Cys256Ser)
c.1256G>C (p.Cys419Ser)
c.853G>C (n.853G>C)
c.602G>C (p.Cys201Ser)
c.319+2361G>C
11g.71435451C>TCA381700680DHCR7c.1352G>A (p.Cys451Tyr)
c.1178G>A (p.Cys393Tyr)
c.1403G>A (p.Cys468Tyr)
c.1388G>A (p.Cys463Tyr)
c.*115G>A (n.*115G>A)
n.1392G>A
c.767G>A (p.Cys256Tyr)
c.1256G>A (p.Cys419Tyr)
c.853G>A (n.853G>A)
c.602G>A (p.Cys201Tyr)
c.319+2361G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435452A=CA1981486822DHCR7c.1351T= (p.Cys451=)
c.1177T= (p.Cys393=)
c.1402T= (p.Cys468=)
c.1387T= (p.Cys463=)
c.*114T= (n.*114T=)
n.1391T=
c.766T= (p.Cys256=)
c.1255T= (p.Cys419=)
c.852T= (n.852T=)
c.601T= (p.Cys201=)
c.319+2360T=
11g.71435452A>CCA381700682DHCR7c.1351T>G (p.Cys451Gly)
c.1177T>G (p.Cys393Gly)
c.1402T>G (p.Cys468Gly)
c.1387T>G (p.Cys463Gly)
c.*114T>G (n.*114T>G)
n.1391T>G
c.766T>G (p.Cys256Gly)
c.1255T>G (p.Cys419Gly)
c.852T>G (n.852T>G)
c.601T>G (p.Cys201Gly)
c.319+2360T>G
11g.71435452A>GCA6162251DHCR7c.1351T>C (p.Cys451Arg)
c.1177T>C (p.Cys393Arg)
c.1402T>C (p.Cys468Arg)
c.1387T>C (p.Cys463Arg)
c.*114T>C (n.*114T>C)
n.1391T>C
c.766T>C (p.Cys256Arg)
c.1255T>C (p.Cys419Arg)
c.852T>C (n.852T>C)
c.601T>C (p.Cys201Arg)
c.319+2360T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435452A>TCA381700685DHCR7c.1351T>A (p.Cys451Ser)
c.1177T>A (p.Cys393Ser)
c.1402T>A (p.Cys468Ser)
c.1387T>A (p.Cys463Ser)
c.*114T>A (n.*114T>A)
n.1391T>A
c.766T>A (p.Cys256Ser)
c.1255T>A (p.Cys419Ser)
c.852T>A (n.852T>A)
c.601T>A (p.Cys201Ser)
c.319+2360T>A
11g.71435453G>ACA475565919DHCR7c.1350C>T (p.Arg450=)
c.1176C>T (p.Arg392=)
c.1401C>T (p.Arg467=)
c.1386C>T (p.Arg462=)
c.*113C>T (n.*113C>T)
n.1390C>T
c.765C>T (p.Arg255=)
c.1254C>T (p.Arg418=)
c.851C>T (n.851C>T)
c.600C>T (p.Arg200=)
c.319+2359C>T
11g.71435453G>CCA6162252DHCR7c.1350C>G (p.Arg450=)
c.1176C>G (p.Arg392=)
c.1401C>G (p.Arg467=)
c.1386C>G (p.Arg462=)
c.*113C>G (n.*113C>G)
n.1390C>G
c.765C>G (p.Arg255=)
c.1254C>G (p.Arg418=)
c.851C>G (n.851C>G)
c.600C>G (p.Arg200=)
c.319+2359C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435453G=CA1981486823DHCR7c.1350C= (p.Arg450=)
c.1176C= (p.Arg392=)
c.1401C= (p.Arg467=)
c.1386C= (p.Arg462=)
c.*113C= (n.*113C=)
n.1390C=
c.765C= (p.Arg255=)
c.1254C= (p.Arg418=)
c.851C= (n.851C=)
c.600C= (p.Arg200=)
c.319+2359C=
11g.71435453G>TCA475565923DHCR7c.1350C>A (p.Arg450=)
c.1176C>A (p.Arg392=)
c.1401C>A (p.Arg467=)
c.1386C>A (p.Arg462=)
c.*113C>A (n.*113C>A)
n.1390C>A
c.765C>A (p.Arg255=)
c.1254C>A (p.Arg418=)
c.851C>A (n.851C>A)
c.600C>A (p.Arg200=)
c.319+2359C>A
11g.71435453_71435454delinsCACA915948241DHCR7c.1349_1350delinsTG (p.Arg450Leu)
c.1175_1176delinsTG (p.Arg392Leu)
c.1400_1401delinsTG (p.Arg467Leu)
c.1385_1386delinsTG (p.Arg462Leu)
c.*112_*113delinsTG (n.*112_*113delinsTG)
n.1389_1390delinsTG
c.764_765delinsTG (p.Arg255Leu)
c.1253_1254delinsTG (p.Arg418Leu)
c.850_851delinsTG (n.850_851delinsTG)
c.599_600delinsTG (p.Arg200Leu)
c.319+2358_319+2359delinsTG
 ClinVar dbSNP
11g.71435453_71435454delinsGCCA1981486824DHCR7c.1349_1350delinsGC (p.Arg450=)
c.1175_1176delinsGC (p.Arg392=)
c.1400_1401delinsGC (p.Arg467=)
c.1385_1386delinsGC (p.Arg462=)
c.*112_*113delinsGC (n.*112_*113delinsGC)
n.1389_1390delinsGC
c.764_765delinsGC (p.Arg255=)
c.1253_1254delinsGC (p.Arg418=)
c.850_851delinsGC (n.850_851delinsGC)
c.599_600delinsGC (p.Arg200=)
c.319+2358_319+2359delinsGC
11g.71435454C>ACA6162253DHCR7c.1349G>T (p.Arg450Leu)
c.1175G>T (p.Arg392Leu)
c.1400G>T (p.Arg467Leu)
c.1385G>T (p.Arg462Leu)
c.*112G>T (n.*112G>T)
n.1389G>T
c.764G>T (p.Arg255Leu)
c.1253G>T (p.Arg418Leu)
c.850G>T (n.850G>T)
c.599G>T (p.Arg200Leu)
c.319+2358G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435454C=CA1981486825DHCR7c.1349G= (p.Arg450=)
c.1175G= (p.Arg392=)
c.1400G= (p.Arg467=)
c.1385G= (p.Arg462=)
c.*112G= (n.*112G=)
n.1389G=
c.764G= (p.Arg255=)
c.1253G= (p.Arg418=)
c.850G= (n.850G=)
c.599G= (p.Arg200=)
c.319+2358G=
11g.71435454C>GCA381700689DHCR7c.1349G>C (p.Arg450Pro)
c.1175G>C (p.Arg392Pro)
c.1400G>C (p.Arg467Pro)
c.1385G>C (p.Arg462Pro)
c.*112G>C (n.*112G>C)
n.1389G>C
c.764G>C (p.Arg255Pro)
c.1253G>C (p.Arg418Pro)
c.850G>C (n.850G>C)
c.599G>C (p.Arg200Pro)
c.319+2358G>C
 gnomAD v4
11g.71435454C>TCA224323879DHCR7c.1349G>A (p.Arg450His)
c.1175G>A (p.Arg392His)
c.1400G>A (p.Arg467His)
c.1385G>A (p.Arg462His)
c.*112G>A (n.*112G>A)
n.1389G>A
c.764G>A (p.Arg255His)
c.1253G>A (p.Arg418His)
c.850G>A (n.850G>A)
c.599G>A (p.Arg200His)
c.319+2358G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435454_71435455delinsCGCA1981486826DHCR7c.1348_1349delinsCG (p.Arg450=)
c.1174_1175delinsCG (p.Arg392=)
c.1399_1400delinsCG (p.Arg467=)
c.1384_1385delinsCG (p.Arg462=)
c.*111_*112delinsCG (n.*111_*112delinsCG)
n.1388_1389delinsCG
c.763_764delinsCG (p.Arg255=)
c.1252_1253delinsCG (p.Arg418=)
c.849_850delinsCG (n.849_850delinsCG)
c.598_599delinsCG (p.Arg200=)
c.319+2357_319+2358delinsCG
11g.71435455G>ACA6162254DHCR7c.1348C>T (p.Arg450Cys)
c.1174C>T (p.Arg392Cys)
c.1399C>T (p.Arg467Cys)
c.1384C>T (p.Arg462Cys)
c.*111C>T (n.*111C>T)
n.1388C>T
c.763C>T (p.Arg255Cys)
c.1252C>T (p.Arg418Cys)
c.849C>T (n.849C>T)
c.598C>T (p.Arg200Cys)
c.319+2357C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435455G>CCA381700692DHCR7c.1348C>G (p.Arg450Gly)
c.1174C>G (p.Arg392Gly)
c.1399C>G (p.Arg467Gly)
c.1384C>G (p.Arg462Gly)
c.*111C>G (n.*111C>G)
n.1388C>G
c.763C>G (p.Arg255Gly)
c.1252C>G (p.Arg418Gly)
c.849C>G (n.849C>G)
c.598C>G (p.Arg200Gly)
c.319+2357C>G
11g.71435455G=CA1981486827DHCR7c.1348C= (p.Arg450=)
c.1174C= (p.Arg392=)
c.1399C= (p.Arg467=)
c.1384C= (p.Arg462=)
c.*111C= (n.*111C=)
n.1388C=
c.763C= (p.Arg255=)
c.1252C= (p.Arg418=)
c.849C= (n.849C=)
c.598C= (p.Arg200=)
c.319+2357C=
11g.71435455G>TCA381700695DHCR7c.1348C>A (p.Arg450Ser)
c.1174C>A (p.Arg392Ser)
c.1399C>A (p.Arg467Ser)
c.1384C>A (p.Arg462Ser)
c.*111C>A (n.*111C>A)
n.1388C>A
c.763C>A (p.Arg255Ser)
c.1252C>A (p.Arg418Ser)
c.849C>A (n.849C>A)
c.598C>A (p.Arg200Ser)
c.319+2357C>A
11g.71435456delCA10604128DHCR7c.1348del (p.Arg450AlafsTer?)
c.1174del (p.Arg392AlafsTer?)
c.1399del (p.Arg467AlafsTer?)
c.1384del (p.Arg462AlafsTer?)
c.*111del (n.*111del)
n.1388del
c.763del (p.Arg255AlafsTer?)
c.1252del (p.Arg418AlafsTer?)
c.849del (n.849del)
c.598del (p.Arg200AlafsTer?)
c.319+2357del
 ClinVar dbSNP gnomAD v4
11g.71435456G>ACA224323902DHCR7c.1347C>T (p.His449=)
c.1173C>T (p.His391=)
c.1398C>T (p.His466=)
c.1383C>T (p.His461=)
c.*110C>T (n.*110C>T)
n.1387C>T
c.762C>T (p.His254=)
c.1251C>T (p.His417=)
c.848C>T (n.848C>T)
c.597C>T (p.His199=)
c.319+2356C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71435456G>CCA381700696DHCR7c.1347C>G (p.His449Gln)
c.1173C>G (p.His391Gln)
c.1398C>G (p.His466Gln)
c.1383C>G (p.His461Gln)
c.*110C>G (n.*110C>G)
n.1387C>G
c.762C>G (p.His254Gln)
c.1251C>G (p.His417Gln)
c.848C>G (n.848C>G)
c.597C>G (p.His199Gln)
c.319+2356C>G
 gnomAD v4
11g.71435456G=CA1981486828DHCR7c.1347C= (p.His449=)
c.1173C= (p.His391=)
c.1398C= (p.His466=)
c.1383C= (p.His461=)
c.*110C= (n.*110C=)
n.1387C=
c.762C= (p.His254=)
c.1251C= (p.His417=)
c.848C= (n.848C=)
c.597C= (p.His199=)
c.319+2356C=
11g.71435456G>TCA381700698DHCR7c.1347C>A (p.His449Gln)
c.1173C>A (p.His391Gln)
c.1398C>A (p.His466Gln)
c.1383C>A (p.His461Gln)
c.*110C>A (n.*110C>A)
n.1387C>A
c.762C>A (p.His254Gln)
c.1251C>A (p.His417Gln)
c.848C>A (n.848C>A)
c.597C>A (p.His199Gln)
c.319+2356C>A
11g.71435457T>ACA381700700DHCR7c.1346A>T (p.His449Leu)
c.1172A>T (p.His391Leu)
c.1397A>T (p.His466Leu)
c.1382A>T (p.His461Leu)
c.*109A>T (n.*109A>T)
n.1386A>T
c.761A>T (p.His254Leu)
c.1250A>T (p.His417Leu)
c.847A>T (n.847A>T)
c.596A>T (p.His199Leu)
c.319+2355A>T
11g.71435457T>CCA381700702DHCR7c.1346A>G (p.His449Arg)
c.1172A>G (p.His391Arg)
c.1397A>G (p.His466Arg)
c.1382A>G (p.His461Arg)
c.*109A>G (n.*109A>G)
n.1386A>G
c.761A>G (p.His254Arg)
c.1250A>G (p.His417Arg)
c.847A>G (n.847A>G)
c.596A>G (p.His199Arg)
c.319+2355A>G
11g.71435457T>GCA381700704DHCR7c.1346A>C (p.His449Pro)
c.1172A>C (p.His391Pro)
c.1397A>C (p.His466Pro)
c.1382A>C (p.His461Pro)
c.*109A>C (n.*109A>C)
n.1386A>C
c.761A>C (p.His254Pro)
c.1250A>C (p.His417Pro)
c.847A>C (n.847A>C)
c.596A>C (p.His199Pro)
c.319+2355A>C
11g.71435458G>ACA6162255DHCR7c.1345C>T (p.His449Tyr)
c.1171C>T (p.His391Tyr)
c.1396C>T (p.His466Tyr)
c.1381C>T (p.His461Tyr)
c.*108C>T (n.*108C>T)
n.1385C>T
c.760C>T (p.His254Tyr)
c.1249C>T (p.His417Tyr)
c.846C>T (n.846C>T)
c.595C>T (p.His199Tyr)
c.319+2354C>T
 dbSNP ExAC gnomAD v2
11g.71435458G>CCA381700705DHCR7c.1345C>G (p.His449Asp)
c.1171C>G (p.His391Asp)
c.1396C>G (p.His466Asp)
c.1381C>G (p.His461Asp)
c.*108C>G (n.*108C>G)
n.1385C>G
c.760C>G (p.His254Asp)
c.1249C>G (p.His417Asp)
c.846C>G (n.846C>G)
c.595C>G (p.His199Asp)
c.319+2354C>G
11g.71435458G=CA1981486829DHCR7c.1345C= (p.His449=)
c.1171C= (p.His391=)
c.1396C= (p.His466=)
c.1381C= (p.His461=)
c.*108C= (n.*108C=)
n.1385C=
c.760C= (p.His254=)
c.1249C= (p.His417=)
c.846C= (n.846C=)
c.595C= (p.His199=)
c.319+2354C=
11g.71435458G>TCA381700708DHCR7c.1345C>A (p.His449Asn)
c.1171C>A (p.His391Asn)
c.1396C>A (p.His466Asn)
c.1381C>A (p.His461Asn)
c.*108C>A (n.*108C>A)
n.1385C>A
c.760C>A (p.His254Asn)
c.1249C>A (p.His417Asn)
c.846C>A (n.846C>A)
c.595C>A (p.His199Asn)
c.319+2354C>A
11g.71435458_71435461delinsGCTCCA1981486830DHCR7c.1342_1345delinsGAGC (p.Glu448=)
c.1168_1171delinsGAGC (p.Glu390=)
c.1393_1396delinsGAGC (p.Glu465=)
c.1378_1381delinsGAGC (p.Glu460=)
c.*105_*108delinsGAGC (n.*105_*108delinsGAGC)
n.1382_1385delinsGAGC
c.757_760delinsGAGC (p.Glu253=)
c.1246_1249delinsGAGC (p.Glu416=)
c.843_846delinsGAGC (n.843_846delinsGAGC)
c.592_595delinsGAGC (p.Glu198=)
c.319+2351_319+2354delinsGAGC
11g.71435459C>ACA381700710DHCR7c.1344G>T (p.Glu448Asp)
c.1170G>T (p.Glu390Asp)
c.1395G>T (p.Glu465Asp)
c.1380G>T (p.Glu460Asp)
c.*107G>T (n.*107G>T)
n.1384G>T
c.759G>T (p.Glu253Asp)
c.1248G>T (p.Glu416Asp)
c.845G>T (n.845G>T)
c.594G>T (p.Glu198Asp)
c.319+2353G>T
11g.71435459C>GCA381700712DHCR7c.1344G>C (p.Glu448Asp)
c.1170G>C (p.Glu390Asp)
c.1395G>C (p.Glu465Asp)
c.1380G>C (p.Glu460Asp)
c.*107G>C (n.*107G>C)
n.1384G>C
c.759G>C (p.Glu253Asp)
c.1248G>C (p.Glu416Asp)
c.845G>C (n.845G>C)
c.594G>C (p.Glu198Asp)
c.319+2353G>C
11g.71435459C>TCA475565951DHCR7c.1344G>A (p.Glu448=)
c.1170G>A (p.Glu390=)
c.1395G>A (p.Glu465=)
c.1380G>A (p.Glu460=)
c.*107G>A (n.*107G>A)
n.1384G>A
c.759G>A (p.Glu253=)
c.1248G>A (p.Glu416=)
c.845G>A (n.845G>A)
c.594G>A (p.Glu198=)
c.319+2353G>A
11g.71435459_71435461delinsGCA915948242DHCR7c.1342_1344delinsC (p.Glu448ProfsTer?)
c.1168_1170delinsC (p.Glu390ProfsTer?)
c.1393_1395delinsC (p.Glu465ProfsTer?)
c.1378_1380delinsC (p.Glu460ProfsTer?)
c.*105_*107delinsC (n.*105_*107delinsC)
n.1382_1384delinsC
c.757_759delinsC (p.Glu253ProfsTer?)
c.1246_1248delinsC (p.Glu416ProfsTer?)
c.843_845delinsC (n.843_845delinsC)
c.592_594delinsC (p.Glu198ProfsTer?)
c.319+2351_319+2353delinsC
 ClinVar dbSNP
11g.71435460T>ACA381700714DHCR7c.1343A>T (p.Glu448Val)
c.1169A>T (p.Glu390Val)
c.1394A>T (p.Glu465Val)
c.1379A>T (p.Glu460Val)
c.*106A>T (n.*106A>T)
n.1383A>T
c.758A>T (p.Glu253Val)
c.1247A>T (p.Glu416Val)
c.844A>T (n.844A>T)
c.593A>T (p.Glu198Val)
c.319+2352A>T
11g.71435460T>CCA381700716DHCR7c.1343A>G (p.Glu448Gly)
c.1169A>G (p.Glu390Gly)
c.1394A>G (p.Glu465Gly)
c.1379A>G (p.Glu460Gly)
c.*106A>G (n.*106A>G)
n.1383A>G
c.758A>G (p.Glu253Gly)
c.1247A>G (p.Glu416Gly)
c.844A>G (n.844A>G)
c.593A>G (p.Glu198Gly)
c.319+2352A>G
11g.71435460T>GCA381700718DHCR7c.1343A>C (p.Glu448Ala)
c.1169A>C (p.Glu390Ala)
c.1394A>C (p.Glu465Ala)
c.1379A>C (p.Glu460Ala)
c.*106A>C (n.*106A>C)
n.1383A>C
c.758A>C (p.Glu253Ala)
c.1247A>C (p.Glu416Ala)
c.844A>C (n.844A>C)
c.593A>C (p.Glu198Ala)
c.319+2352A>C
11g.71435461C>ACA381700725DHCR7c.1342G>T (p.Glu448Ter)
c.1168G>T (p.Glu390Ter)
c.1393G>T (p.Glu465Ter)
c.1378G>T (p.Glu460Ter)
c.*105G>T (n.*105G>T)
n.1382G>T
c.757G>T (p.Glu253Ter)
c.1246G>T (p.Glu416Ter)
c.843G>T (n.843G>T)
c.592G>T (p.Glu198Ter)
c.319+2351G>T
 gnomAD v4
11g.71435461C=CA1981486831DHCR7c.1342G= (p.Glu448=)
c.1168G= (p.Glu390=)
c.1393G= (p.Glu465=)
c.1378G= (p.Glu460=)
c.*105G= (n.*105G=)
n.1382G=
c.757G= (p.Glu253=)
c.1246G= (p.Glu416=)
c.843G= (n.843G=)
c.592G= (p.Glu198=)
c.319+2351G=
11g.71435461C>GCA381700721DHCR7c.1342G>C (p.Glu448Gln)
c.1168G>C (p.Glu390Gln)
c.1393G>C (p.Glu465Gln)
c.1378G>C (p.Glu460Gln)
c.*105G>C (n.*105G>C)
n.1382G>C
c.757G>C (p.Glu253Gln)
c.1246G>C (p.Glu416Gln)
c.843G>C (n.843G>C)
c.592G>C (p.Glu198Gln)
c.319+2351G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435461C>TCA118513DHCR7c.1342G>A (p.Glu448Lys)
c.1168G>A (p.Glu390Lys)
c.1393G>A (p.Glu465Lys)
c.1378G>A (p.Glu460Lys)
c.*105G>A (n.*105G>A)
n.1382G>A
c.757G>A (p.Glu253Lys)
c.1246G>A (p.Glu416Lys)
c.843G>A (n.843G>A)
c.592G>A (p.Glu198Lys)
c.319+2351G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71435462G>ACA147236DHCR7c.1341C>T (p.Asp447=)
c.1167C>T (p.Asp389=)
c.1392C>T (p.Asp464=)
c.1377C>T (p.Asp459=)
c.*104C>T (n.*104C>T)
n.1381C>T
c.756C>T (p.Asp252=)
c.1245C>T (p.Asp415=)
c.842C>T (n.842C>T)
c.591C>T (p.Asp197=)
c.319+2350C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435462G>CCA6162256DHCR7c.1341C>G (p.Asp447Glu)
c.1167C>G (p.Asp389Glu)
c.1392C>G (p.Asp464Glu)
c.1377C>G (p.Asp459Glu)
c.*104C>G (n.*104C>G)
n.1381C>G
c.756C>G (p.Asp252Glu)
c.1245C>G (p.Asp415Glu)
c.842C>G (n.842C>G)
c.591C>G (p.Asp197Glu)
c.319+2350C>G
 dbSNP ExAC
11g.71435462G=CA1981486832DHCR7c.1341C= (p.Asp447=)
c.1167C= (p.Asp389=)
c.1392C= (p.Asp464=)
c.1377C= (p.Asp459=)
c.*104C= (n.*104C=)
n.1381C=
c.756C= (p.Asp252=)
c.1245C= (p.Asp415=)
c.842C= (n.842C=)
c.591C= (p.Asp197=)
c.319+2350C=
11g.71435462G>TCA381700731DHCR7c.1341C>A (p.Asp447Glu)
c.1167C>A (p.Asp389Glu)
c.1392C>A (p.Asp464Glu)
c.1377C>A (p.Asp459Glu)
c.*104C>A (n.*104C>A)
n.1381C>A
c.756C>A (p.Asp252Glu)
c.1245C>A (p.Asp415Glu)
c.842C>A (n.842C>A)
c.591C>A (p.Asp197Glu)
c.319+2350C>A
11g.71435463T>ACA381700733DHCR7c.1340A>T (p.Asp447Val)
c.1166A>T (p.Asp389Val)
c.1391A>T (p.Asp464Val)
c.1376A>T (p.Asp459Val)
c.*103A>T (n.*103A>T)
n.1380A>T
c.755A>T (p.Asp252Val)
c.1244A>T (p.Asp415Val)
c.841A>T (n.841A>T)
c.590A>T (p.Asp197Val)
c.319+2349A>T
11g.71435463T>CCA381700735DHCR7c.1340A>G (p.Asp447Gly)
c.1166A>G (p.Asp389Gly)
c.1391A>G (p.Asp464Gly)
c.1376A>G (p.Asp459Gly)
c.*103A>G (n.*103A>G)
n.1380A>G
c.755A>G (p.Asp252Gly)
c.1244A>G (p.Asp415Gly)
c.841A>G (n.841A>G)
c.590A>G (p.Asp197Gly)
c.319+2349A>G
11g.71435463T>GCA381700745DHCR7c.1340A>C (p.Asp447Ala)
c.1166A>C (p.Asp389Ala)
c.1391A>C (p.Asp464Ala)
c.1376A>C (p.Asp459Ala)
c.*103A>C (n.*103A>C)
n.1380A>C
c.755A>C (p.Asp252Ala)
c.1244A>C (p.Asp415Ala)
c.841A>C (n.841A>C)
c.590A>C (p.Asp197Ala)
c.319+2349A>C
11g.71435464C>ACA381700749DHCR7c.1339G>T (p.Asp447Tyr)
c.1165G>T (p.Asp389Tyr)
c.1390G>T (p.Asp464Tyr)
c.1375G>T (p.Asp459Tyr)
c.*102G>T (n.*102G>T)
n.1379G>T
c.754G>T (p.Asp252Tyr)
c.1243G>T (p.Asp415Tyr)
c.840G>T (n.840G>T)
c.589G>T (p.Asp197Tyr)
c.319+2348G>T
 COSMIC COSMIC
11g.71435464C=CA1981486833DHCR7c.1339G= (p.Asp447=)
c.1165G= (p.Asp389=)
c.1390G= (p.Asp464=)
c.1375G= (p.Asp459=)
c.*102G= (n.*102G=)
n.1379G=
c.754G= (p.Asp252=)
c.1243G= (p.Asp415=)
c.840G= (n.840G=)
c.589G= (p.Asp197=)
c.319+2348G=
11g.71435464C>GCA381700751DHCR7c.1339G>C (p.Asp447His)
c.1165G>C (p.Asp389His)
c.1390G>C (p.Asp464His)
c.1375G>C (p.Asp459His)
c.*102G>C (n.*102G>C)
n.1379G>C
c.754G>C (p.Asp252His)
c.1243G>C (p.Asp415His)
c.840G>C (n.840G>C)
c.589G>C (p.Asp197His)
c.319+2348G>C
 dbSNP gnomAD v2 gnomAD v4
11g.71435464C>TCA381700753DHCR7c.1339G>A (p.Asp447Asn)
c.1165G>A (p.Asp389Asn)
c.1390G>A (p.Asp464Asn)
c.1375G>A (p.Asp459Asn)
c.*102G>A (n.*102G>A)
n.1379G>A
c.754G>A (p.Asp252Asn)
c.1243G>A (p.Asp415Asn)
c.840G>A (n.840G>A)
c.589G>A (p.Asp197Asn)
c.319+2348G>A
 dbSNP gnomAD v2 gnomAD v4
11g.71435466delCA2614857183DHCR7c.1339del (p.Asp447ThrfsTer?)
c.1165del (p.Asp389ThrfsTer?)
c.1390del (p.Asp464ThrfsTer?)
c.1375del (p.Asp459ThrfsTer?)
c.*102del (n.*102del)
n.1379del
c.754del (p.Asp252ThrfsTer?)
c.1243del (p.Asp415ThrfsTer?)
c.840del (n.840del)
c.589del (p.Asp197ThrfsTer?)
c.319+2348del
 gnomAD v4
11g.71435465C>ACA475565968DHCR7c.1338G>T (p.Arg446=)
c.1164G>T (p.Arg388=)
c.1389G>T (p.Arg463=)
c.1374G>T (p.Arg458=)
c.*101G>T (n.*101G>T)
n.1378G>T
c.753G>T (p.Arg251=)
c.1242G>T (p.Arg414=)
c.839G>T (n.839G>T)
c.588G>T (p.Arg196=)
c.319+2347G>T
11g.71435465C=CA1981486834DHCR7c.1338G= (p.Arg446=)
c.1164G= (p.Arg388=)
c.1389G= (p.Arg463=)
c.1374G= (p.Arg458=)
c.*101G= (n.*101G=)
n.1378G=
c.753G= (p.Arg251=)
c.1242G= (p.Arg414=)
c.839G= (n.839G=)
c.588G= (p.Arg196=)
c.319+2347G=
11g.71435465C>GCA224323937DHCR7c.1338G>C (p.Arg446=)
c.1164G>C (p.Arg388=)
c.1389G>C (p.Arg463=)
c.1374G>C (p.Arg458=)
c.*101G>C (n.*101G>C)
n.1378G>C
c.753G>C (p.Arg251=)
c.1242G>C (p.Arg414=)
c.839G>C (n.839G>C)
c.588G>C (p.Arg196=)
c.319+2347G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.71435465C>TCA475565970DHCR7c.1338G>A (p.Arg446=)
c.1164G>A (p.Arg388=)
c.1389G>A (p.Arg463=)
c.1374G>A (p.Arg458=)
c.*101G>A (n.*101G>A)
n.1378G>A
c.753G>A (p.Arg251=)
c.1242G>A (p.Arg414=)
c.839G>A (n.839G>A)
c.588G>A (p.Arg196=)
c.319+2347G>A
 gnomAD v4
11g.71435466C>ACA381700761DHCR7c.1337G>T (p.Arg446Leu)
c.1163G>T (p.Arg388Leu)
c.1388G>T (p.Arg463Leu)
c.1373G>T (p.Arg458Leu)
c.*100G>T (n.*100G>T)
n.1377G>T
c.752G>T (p.Arg251Leu)
c.1241G>T (p.Arg414Leu)
c.838G>T (n.838G>T)
c.587G>T (p.Arg196Leu)
c.319+2346G>T
11g.71435466C=CA1981486835DHCR7c.1337G= (p.Arg446=)
c.1163G= (p.Arg388=)
c.1388G= (p.Arg463=)
c.1373G= (p.Arg458=)
c.*100G= (n.*100G=)
n.1377G=
c.752G= (p.Arg251=)
c.1241G= (p.Arg414=)
c.838G= (n.838G=)
c.587G= (p.Arg196=)
c.319+2346G=
11g.71435466C>GCA381700763DHCR7c.1337G>C (p.Arg446Pro)
c.1163G>C (p.Arg388Pro)
c.1388G>C (p.Arg463Pro)
c.1373G>C (p.Arg458Pro)
c.*100G>C (n.*100G>C)
n.1377G>C
c.752G>C (p.Arg251Pro)
c.1241G>C (p.Arg414Pro)
c.838G>C (n.838G>C)
c.587G>C (p.Arg196Pro)
c.319+2346G>C
 ClinVar dbSNP gnomAD v4
11g.71435466C>TCA6162258DHCR7c.1337G>A (p.Arg446Gln)
c.1163G>A (p.Arg388Gln)
c.1388G>A (p.Arg463Gln)
c.1373G>A (p.Arg458Gln)
c.*100G>A (n.*100G>A)
n.1377G>A
c.752G>A (p.Arg251Gln)
c.1241G>A (p.Arg414Gln)
c.838G>A (n.838G>A)
c.587G>A (p.Arg196Gln)
c.319+2346G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435467G>ACA6162259DHCR7c.1336C>T (p.Arg446Trp)
c.1162C>T (p.Arg388Trp)
c.1387C>T (p.Arg463Trp)
c.1372C>T (p.Arg458Trp)
c.*99C>T (n.*99C>T)
n.1376C>T
c.751C>T (p.Arg251Trp)
c.1240C>T (p.Arg414Trp)
c.837C>T (n.837C>T)
c.586C>T (p.Arg196Trp)
c.319+2345C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71435467G>CCA381700772DHCR7c.1336C>G (p.Arg446Gly)
c.1162C>G (p.Arg388Gly)
c.1387C>G (p.Arg463Gly)
c.1372C>G (p.Arg458Gly)
c.*99C>G (n.*99C>G)
n.1376C>G
c.751C>G (p.Arg251Gly)
c.1240C>G (p.Arg414Gly)
c.837C>G (n.837C>G)
c.586C>G (p.Arg196Gly)
c.319+2345C>G
11g.71435467G=CA1981486836DHCR7c.1336C= (p.Arg446=)
c.1162C= (p.Arg388=)
c.1387C= (p.Arg463=)
c.1372C= (p.Arg458=)
c.*99C= (n.*99C=)
n.1376C=
c.751C= (p.Arg251=)
c.1240C= (p.Arg414=)
c.837C= (n.837C=)
c.586C= (p.Arg196=)
c.319+2345C=
11g.71435467G>TCA475565979DHCR7c.1336C>A (p.Arg446=)
c.1162C>A (p.Arg388=)
c.1387C>A (p.Arg463=)
c.1372C>A (p.Arg458=)
c.*99C>A (n.*99C>A)
n.1376C>A
c.751C>A (p.Arg251=)
c.1240C>A (p.Arg414=)
c.837C>A (n.837C>A)
c.586C>A (p.Arg196=)
c.319+2345C>A
11g.71435469_71435471dupCA6162257DHCR7c.1334_1336dup (p.Leu445_Arg446insLeu)
c.1160_1162dup (p.Leu387_Arg388insLeu)
c.1385_1387dup (p.Leu462_Arg463insLeu)
c.1370_1372dup (p.Leu457_Arg458insLeu)
c.*97_*99dup (n.*97_*99dup)
n.1374_1376dup
c.749_751dup (p.Leu250_Arg251insLeu)
c.1238_1240dup (p.Leu413_Arg414insLeu)
c.835_837dup (n.835_837dup)
c.584_586dup (p.Leu195_Arg196insLeu)
c.319+2343_319+2345dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435468G>ACA475565981DHCR7c.1335C>T (p.Leu445=)
c.1161C>T (p.Leu387=)
c.1386C>T (p.Leu462=)
c.1371C>T (p.Leu457=)
c.*98C>T (n.*98C>T)
n.1375C>T
c.750C>T (p.Leu250=)
c.1239C>T (p.Leu413=)
c.836C>T (n.836C>T)
c.585C>T (p.Leu195=)
c.319+2344C>T
11g.71435468G>CCA475565982DHCR7c.1335C>G (p.Leu445=)
c.1161C>G (p.Leu387=)
c.1386C>G (p.Leu462=)
c.1371C>G (p.Leu457=)
c.*98C>G (n.*98C>G)
n.1375C>G
c.750C>G (p.Leu250=)
c.1239C>G (p.Leu413=)
c.836C>G (n.836C>G)
c.585C>G (p.Leu195=)
c.319+2344C>G
11g.71435468G>TCA475565983DHCR7c.1335C>A (p.Leu445=)
c.1161C>A (p.Leu387=)
c.1386C>A (p.Leu462=)
c.1371C>A (p.Leu457=)
c.*98C>A (n.*98C>A)
n.1375C>A
c.750C>A (p.Leu250=)
c.1239C>A (p.Leu413=)
c.836C>A (n.836C>A)
c.585C>A (p.Leu195=)
c.319+2344C>A
11g.71435469A>CCA381700778DHCR7c.1334T>G (p.Leu445Arg)
c.1160T>G (p.Leu387Arg)
c.1385T>G (p.Leu462Arg)
c.1370T>G (p.Leu457Arg)
c.*97T>G (n.*97T>G)
n.1374T>G
c.749T>G (p.Leu250Arg)
c.1238T>G (p.Leu413Arg)
c.835T>G (n.835T>G)
c.584T>G (p.Leu195Arg)
c.319+2343T>G
11g.71435469A>GCA381700781DHCR7c.1334T>C (p.Leu445Pro)
c.1160T>C (p.Leu387Pro)
c.1385T>C (p.Leu462Pro)
c.1370T>C (p.Leu457Pro)
c.*97T>C (n.*97T>C)
n.1374T>C
c.749T>C (p.Leu250Pro)
c.1238T>C (p.Leu413Pro)
c.835T>C (n.835T>C)
c.584T>C (p.Leu195Pro)
c.319+2343T>C
11g.71435469A>TCA381700784DHCR7c.1334T>A (p.Leu445His)
c.1160T>A (p.Leu387His)
c.1385T>A (p.Leu462His)
c.1370T>A (p.Leu457His)
c.*97T>A (n.*97T>A)
n.1374T>A
c.749T>A (p.Leu250His)
c.1238T>A (p.Leu413His)
c.835T>A (n.835T>A)
c.584T>A (p.Leu195His)
c.319+2343T>A
11g.71435470G>ACA381700787DHCR7c.1333C>T (p.Leu445Phe)
c.1159C>T (p.Leu387Phe)
c.1384C>T (p.Leu462Phe)
c.1369C>T (p.Leu457Phe)
c.*96C>T (n.*96C>T)
n.1373C>T
c.748C>T (p.Leu250Phe)
c.1237C>T (p.Leu413Phe)
c.834C>T (n.834C>T)
c.583C>T (p.Leu195Phe)
c.319+2342C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435470G>CCA381700790DHCR7c.1333C>G (p.Leu445Val)
c.1159C>G (p.Leu387Val)
c.1384C>G (p.Leu462Val)
c.1369C>G (p.Leu457Val)
c.*96C>G (n.*96C>G)
n.1373C>G
c.748C>G (p.Leu250Val)
c.1237C>G (p.Leu413Val)
c.834C>G (n.834C>G)
c.583C>G (p.Leu195Val)
c.319+2342C>G
 dbSNP gnomAD v2 gnomAD v4
11g.71435470G=CA1981486837DHCR7c.1333C= (p.Leu445=)
c.1159C= (p.Leu387=)
c.1384C= (p.Leu462=)
c.1369C= (p.Leu457=)
c.*96C= (n.*96C=)
n.1373C=
c.748C= (p.Leu250=)
c.1237C= (p.Leu413=)
c.834C= (n.834C=)
c.583C= (p.Leu195=)
c.319+2342C=
11g.71435470G>TCA381700800DHCR7c.1333C>A (p.Leu445Ile)
c.1159C>A (p.Leu387Ile)
c.1384C>A (p.Leu462Ile)
c.1369C>A (p.Leu457Ile)
c.*96C>A (n.*96C>A)
n.1373C>A
c.748C>A (p.Leu250Ile)
c.1237C>A (p.Leu413Ile)
c.834C>A (n.834C>A)
c.583C>A (p.Leu195Ile)
c.319+2342C>A
11g.71435471G>ACA475565986DHCR7c.1332C>T (p.Cys444=)
c.1158C>T (p.Cys386=)
c.1383C>T (p.Cys461=)
c.1368C>T (p.Cys456=)
c.*95C>T (n.*95C>T)
n.1372C>T
c.747C>T (p.Cys249=)
c.1236C>T (p.Cys412=)
c.833C>T (n.833C>T)
c.582C>T (p.Cys194=)
c.319+2341C>T
11g.71435471G>CCA381700805DHCR7c.1332C>G (p.Cys444Trp)
c.1158C>G (p.Cys386Trp)
c.1383C>G (p.Cys461Trp)
c.1368C>G (p.Cys456Trp)
c.*95C>G (n.*95C>G)
n.1372C>G
c.747C>G (p.Cys249Trp)
c.1236C>G (p.Cys412Trp)
c.833C>G (n.833C>G)
c.582C>G (p.Cys194Trp)
c.319+2341C>G
11g.71435471G>TCA381700803DHCR7c.1332C>A (p.Cys444Ter)
c.1158C>A (p.Cys386Ter)
c.1383C>A (p.Cys461Ter)
c.1368C>A (p.Cys456Ter)
c.*95C>A (n.*95C>A)
n.1372C>A
c.747C>A (p.Cys249Ter)
c.1236C>A (p.Cys412Ter)
c.833C>A (n.833C>A)
c.582C>A (p.Cys194Ter)
c.319+2341C>A
11g.71435472C>ACA381700809DHCR7c.1331G>T (p.Cys444Phe)
c.1157G>T (p.Cys386Phe)
c.1382G>T (p.Cys461Phe)
c.1367G>T (p.Cys456Phe)
c.*94G>T (n.*94G>T)
n.1371G>T
c.746G>T (p.Cys249Phe)
c.1235G>T (p.Cys412Phe)
c.832G>T (n.832G>T)
c.581G>T (p.Cys194Phe)
c.319+2340G>T
11g.71435472C>GCA381700811DHCR7c.1331G>C (p.Cys444Ser)
c.1157G>C (p.Cys386Ser)
c.1382G>C (p.Cys461Ser)
c.1367G>C (p.Cys456Ser)
c.*94G>C (n.*94G>C)
n.1371G>C
c.746G>C (p.Cys249Ser)
c.1235G>C (p.Cys412Ser)
c.832G>C (n.832G>C)
c.581G>C (p.Cys194Ser)
c.319+2340G>C
11g.71435472C>TCA381700814DHCR7c.1331G>A (p.Cys444Tyr)
c.1157G>A (p.Cys386Tyr)
c.1382G>A (p.Cys461Tyr)
c.1367G>A (p.Cys456Tyr)
c.*94G>A (n.*94G>A)
n.1371G>A
c.746G>A (p.Cys249Tyr)
c.1235G>A (p.Cys412Tyr)
c.832G>A (n.832G>A)
c.581G>A (p.Cys194Tyr)
c.319+2340G>A
 gnomAD v4
11g.71435473A>CCA381700816DHCR7c.1330T>G (p.Cys444Gly)
c.1156T>G (p.Cys386Gly)
c.1381T>G (p.Cys461Gly)
c.1366T>G (p.Cys456Gly)
c.*93T>G (n.*93T>G)
n.1370T>G
c.745T>G (p.Cys249Gly)
c.1234T>G (p.Cys412Gly)
c.831T>G (n.831T>G)
c.580T>G (p.Cys194Gly)
c.319+2339T>G
11g.71435473A>GCA381700817DHCR7c.1330T>C (p.Cys444Arg)
c.1156T>C (p.Cys386Arg)
c.1381T>C (p.Cys461Arg)
c.1366T>C (p.Cys456Arg)
c.*93T>C (n.*93T>C)
n.1370T>C
c.745T>C (p.Cys249Arg)
c.1234T>C (p.Cys412Arg)
c.831T>C (n.831T>C)
c.580T>C (p.Cys194Arg)
c.319+2339T>C
11g.71435473A>TCA381700820DHCR7c.1330T>A (p.Cys444Ser)
c.1156T>A (p.Cys386Ser)
c.1381T>A (p.Cys461Ser)
c.1366T>A (p.Cys456Ser)
c.*93T>A (n.*93T>A)
n.1370T>A
c.745T>A (p.Cys249Ser)
c.1234T>A (p.Cys412Ser)
c.831T>A (n.831T>A)
c.580T>A (p.Cys194Ser)
c.319+2339T>A
11g.71435474G>ACA475565990DHCR7c.1329C>T (p.Arg443=)
c.1155C>T (p.Arg385=)
c.1380C>T (p.Arg460=)
c.1365C>T (p.Arg455=)
c.*92C>T (n.*92C>T)
n.1369C>T
c.744C>T (p.Arg248=)
c.1233C>T (p.Arg411=)
c.830C>T (n.830C>T)
c.579C>T (p.Arg193=)
c.319+2338C>T
11g.71435474G>CCA475565991DHCR7c.1329C>G (p.Arg443=)
c.1155C>G (p.Arg385=)
c.1380C>G (p.Arg460=)
c.1365C>G (p.Arg455=)
c.*92C>G (n.*92C>G)
n.1369C>G
c.744C>G (p.Arg248=)
c.1233C>G (p.Arg411=)
c.830C>G (n.830C>G)
c.579C>G (p.Arg193=)
c.319+2338C>G
11g.71435474G>TCA475565992DHCR7c.1329C>A (p.Arg443=)
c.1155C>A (p.Arg385=)
c.1380C>A (p.Arg460=)
c.1365C>A (p.Arg455=)
c.*92C>A (n.*92C>A)
n.1369C>A
c.744C>A (p.Arg248=)
c.1233C>A (p.Arg411=)
c.830C>A (n.830C>A)
c.579C>A (p.Arg193=)
c.319+2338C>A
11g.71435475C>ACA6162262DHCR7c.1328G>T (p.Arg443Leu)
c.1154G>T (p.Arg385Leu)
c.1379G>T (p.Arg460Leu)
c.1364G>T (p.Arg455Leu)
c.*91G>T (n.*91G>T)
n.1368G>T
c.743G>T (p.Arg248Leu)
c.1232G>T (p.Arg411Leu)
c.829G>T (n.829G>T)
c.578G>T (p.Arg193Leu)
c.319+2337G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435475C=CA1981486838DHCR7c.1328G= (p.Arg443=)
c.1154G= (p.Arg385=)
c.1379G= (p.Arg460=)
c.1364G= (p.Arg455=)
c.*91G= (n.*91G=)
n.1368G=
c.743G= (p.Arg248=)
c.1232G= (p.Arg411=)
c.829G= (n.829G=)
c.578G= (p.Arg193=)
c.319+2337G=
11g.71435475C>GCA6162260DHCR7c.1328G>C (p.Arg443Pro)
c.1154G>C (p.Arg385Pro)
c.1379G>C (p.Arg460Pro)
c.1364G>C (p.Arg455Pro)
c.*91G>C (n.*91G>C)
n.1368G>C
c.743G>C (p.Arg248Pro)
c.1232G>C (p.Arg411Pro)
c.829G>C (n.829G>C)
c.578G>C (p.Arg193Pro)
c.319+2337G>C
 ClinVar dbSNP ExAC gnomAD v2
11g.71435475C>TCA6162261DHCR7c.1328G>A (p.Arg443His)
c.1154G>A (p.Arg385His)
c.1379G>A (p.Arg460His)
c.1364G>A (p.Arg455His)
c.*91G>A (n.*91G>A)
n.1368G>A
c.743G>A (p.Arg248His)
c.1232G>A (p.Arg411His)
c.829G>A (n.829G>A)
c.578G>A (p.Arg193His)
c.319+2337G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435476G>ACA6162263DHCR7c.1327C>T (p.Arg443Cys)
c.1153C>T (p.Arg385Cys)
c.1378C>T (p.Arg460Cys)
c.1363C>T (p.Arg455Cys)
c.*90C>T (n.*90C>T)
n.1367C>T
c.742C>T (p.Arg248Cys)
c.1231C>T (p.Arg411Cys)
c.828C>T (n.828C>T)
c.577C>T (p.Arg193Cys)
c.319+2336C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71435476G>CCA381700830DHCR7c.1327C>G (p.Arg443Gly)
c.1153C>G (p.Arg385Gly)
c.1378C>G (p.Arg460Gly)
c.1363C>G (p.Arg455Gly)
c.*90C>G (n.*90C>G)
n.1367C>G
c.742C>G (p.Arg248Gly)
c.1231C>G (p.Arg411Gly)
c.828C>G (n.828C>G)
c.577C>G (p.Arg193Gly)
c.319+2336C>G
 ClinVar
11g.71435476G=CA1981486839DHCR7c.1327C= (p.Arg443=)
c.1153C= (p.Arg385=)
c.1378C= (p.Arg460=)
c.1363C= (p.Arg455=)
c.*90C= (n.*90C=)
n.1367C=
c.742C= (p.Arg248=)
c.1231C= (p.Arg411=)
c.828C= (n.828C=)
c.577C= (p.Arg193=)
c.319+2336C=
11g.71435476G>TCA381700833DHCR7c.1327C>A (p.Arg443Ser)
c.1153C>A (p.Arg385Ser)
c.1378C>A (p.Arg460Ser)
c.1363C>A (p.Arg455Ser)
c.*90C>A (n.*90C>A)
n.1367C>A
c.742C>A (p.Arg248Ser)
c.1231C>A (p.Arg411Ser)
c.828C>A (n.828C>A)
c.577C>A (p.Arg193Ser)
c.319+2336C>A
 gnomAD v4
11g.71435477G>ACA475565998DHCR7c.1326C>T (p.His442=)
c.1152C>T (p.His384=)
c.1377C>T (p.His459=)
c.1362C>T (p.His454=)
c.*89C>T (n.*89C>T)
n.1366C>T
c.741C>T (p.His247=)
c.1230C>T (p.His410=)
c.827C>T (n.827C>T)
c.576C>T (p.His192=)
c.319+2335C>T
 ClinVar gnomAD v4
11g.71435477G>CCA381700835DHCR7c.1326C>G (p.His442Gln)
c.1152C>G (p.His384Gln)
c.1377C>G (p.His459Gln)
c.1362C>G (p.His454Gln)
c.*89C>G (n.*89C>G)
n.1366C>G
c.741C>G (p.His247Gln)
c.1230C>G (p.His410Gln)
c.827C>G (n.827C>G)
c.576C>G (p.His192Gln)
c.319+2335C>G
11g.71435477G>TCA381700836DHCR7c.1326C>A (p.His442Gln)
c.1152C>A (p.His384Gln)
c.1377C>A (p.His459Gln)
c.1362C>A (p.His454Gln)
c.*89C>A (n.*89C>A)
n.1366C>A
c.741C>A (p.His247Gln)
c.1230C>A (p.His410Gln)
c.827C>A (n.827C>A)
c.576C>A (p.His192Gln)
c.319+2335C>A
11g.71435478T>ACA381700839DHCR7c.1325A>T (p.His442Leu)
c.1151A>T (p.His384Leu)
c.1376A>T (p.His459Leu)
c.1361A>T (p.His454Leu)
c.*88A>T (n.*88A>T)
n.1365A>T
c.740A>T (p.His247Leu)
c.1229A>T (p.His410Leu)
c.826A>T (n.826A>T)
c.575A>T (p.His192Leu)
c.319+2334A>T
11g.71435478T>CCA381700842DHCR7c.1325A>G (p.His442Arg)
c.1151A>G (p.His384Arg)
c.1376A>G (p.His459Arg)
c.1361A>G (p.His454Arg)
c.*88A>G (n.*88A>G)
n.1365A>G
c.740A>G (p.His247Arg)
c.1229A>G (p.His410Arg)
c.826A>G (n.826A>G)
c.575A>G (p.His192Arg)
c.319+2334A>G
 ClinVar dbSNP
11g.71435478T>GCA381700843DHCR7c.1325A>C (p.His442Pro)
c.1151A>C (p.His384Pro)
c.1376A>C (p.His459Pro)
c.1361A>C (p.His454Pro)
c.*88A>C (n.*88A>C)
n.1365A>C
c.740A>C (p.His247Pro)
c.1229A>C (p.His410Pro)
c.826A>C (n.826A>C)
c.575A>C (p.His192Pro)
c.319+2334A>C
11g.71435478T=CA1981486840DHCR7c.1325A= (p.His442=)
c.1151A= (p.His384=)
c.1376A= (p.His459=)
c.1361A= (p.His454=)
c.*88A= (n.*88A=)
n.1365A=
c.740A= (p.His247=)
c.1229A= (p.His410=)
c.826A= (n.826A=)
c.575A= (p.His192=)
c.319+2334A=
11g.71435479G>ACA381700847DHCR7c.1324C>T (p.His442Tyr)
c.1150C>T (p.His384Tyr)
c.1375C>T (p.His459Tyr)
c.1360C>T (p.His454Tyr)
c.*87C>T (n.*87C>T)
n.1364C>T
c.739C>T (p.His247Tyr)
c.1228C>T (p.His410Tyr)
c.825C>T (n.825C>T)
c.574C>T (p.His192Tyr)
c.319+2333C>T
 gnomAD v4
11g.71435479G>CCA381700849DHCR7c.1324C>G (p.His442Asp)
c.1150C>G (p.His384Asp)
c.1375C>G (p.His459Asp)
c.1360C>G (p.His454Asp)
c.*87C>G (n.*87C>G)
n.1364C>G
c.739C>G (p.His247Asp)
c.1228C>G (p.His410Asp)
c.825C>G (n.825C>G)
c.574C>G (p.His192Asp)
c.319+2333C>G
 ClinVar dbSNP
11g.71435479G>TCA381700850DHCR7c.1324C>A (p.His442Asn)
c.1150C>A (p.His384Asn)
c.1375C>A (p.His459Asn)
c.1360C>A (p.His454Asn)
c.*87C>A (n.*87C>A)
n.1364C>A
c.739C>A (p.His247Asn)
c.1228C>A (p.His410Asn)
c.825C>A (n.825C>A)
c.574C>A (p.His192Asn)
c.319+2333C>A
11g.71435480G>ACA475566013DHCR7c.1323C>T (p.Thr441=)
c.1149C>T (p.Thr383=)
c.1374C>T (p.Thr458=)
c.1359C>T (p.Thr453=)
c.*86C>T (n.*86C>T)
n.1363C>T
c.738C>T (p.Thr246=)
c.1227C>T (p.Thr409=)
c.824C>T (n.824C>T)
c.573C>T (p.Thr191=)
c.319+2332C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71435480G>CCA475566015DHCR7c.1323C>G (p.Thr441=)
c.1149C>G (p.Thr383=)
c.1374C>G (p.Thr458=)
c.1359C>G (p.Thr453=)
c.*86C>G (n.*86C>G)
n.1363C>G
c.738C>G (p.Thr246=)
c.1227C>G (p.Thr409=)
c.824C>G (n.824C>G)
c.573C>G (p.Thr191=)
c.319+2332C>G
11g.71435480G=CA1981486841DHCR7c.1323C= (p.Thr441=)
c.1149C= (p.Thr383=)
c.1374C= (p.Thr458=)
c.1359C= (p.Thr453=)
c.*86C= (n.*86C=)
n.1363C=
c.738C= (p.Thr246=)
c.1227C= (p.Thr409=)
c.824C= (n.824C=)
c.573C= (p.Thr191=)
c.319+2332C=
11g.71435480G>TCA475566017DHCR7c.1323C>A (p.Thr441=)
c.1149C>A (p.Thr383=)
c.1374C>A (p.Thr458=)
c.1359C>A (p.Thr453=)
c.*86C>A (n.*86C>A)
n.1363C>A
c.738C>A (p.Thr246=)
c.1227C>A (p.Thr409=)
c.824C>A (n.824C>A)
c.573C>A (p.Thr191=)
c.319+2332C>A
11g.71435481G>ACA381700852DHCR7c.1322C>T (p.Thr441Ile)
c.1148C>T (p.Thr383Ile)
c.1373C>T (p.Thr458Ile)
c.1358C>T (p.Thr453Ile)
c.*85C>T (n.*85C>T)
n.1362C>T
c.737C>T (p.Thr246Ile)
c.1226C>T (p.Thr409Ile)
c.823C>T (n.823C>T)
c.572C>T (p.Thr191Ile)
c.319+2331C>T
 dbSNP gnomAD v3 gnomAD v4
11g.71435481G>CCA381700857DHCR7c.1322C>G (p.Thr441Ser)
c.1148C>G (p.Thr383Ser)
c.1373C>G (p.Thr458Ser)
c.1358C>G (p.Thr453Ser)
c.*85C>G (n.*85C>G)
n.1362C>G
c.737C>G (p.Thr246Ser)
c.1226C>G (p.Thr409Ser)
c.823C>G (n.823C>G)
c.572C>G (p.Thr191Ser)
c.319+2331C>G
11g.71435481G=CA1981486842DHCR7c.1322C= (p.Thr441=)
c.1148C= (p.Thr383=)
c.1373C= (p.Thr458=)
c.1358C= (p.Thr453=)
c.*85C= (n.*85C=)
n.1362C=
c.737C= (p.Thr246=)
c.1226C= (p.Thr409=)
c.823C= (n.823C=)
c.572C= (p.Thr191=)
c.319+2331C=
11g.71435481G>TCA381700854DHCR7c.1322C>A (p.Thr441Asn)
c.1148C>A (p.Thr383Asn)
c.1373C>A (p.Thr458Asn)
c.1358C>A (p.Thr453Asn)
c.*85C>A (n.*85C>A)
n.1362C>A
c.737C>A (p.Thr246Asn)
c.1226C>A (p.Thr409Asn)
c.823C>A (n.823C>A)
c.572C>A (p.Thr191Asn)
c.319+2331C>A
11g.71435482T>ACA6162264DHCR7c.1321A>T (p.Thr441Ser)
c.1147A>T (p.Thr383Ser)
c.1372A>T (p.Thr458Ser)
c.1357A>T (p.Thr453Ser)
c.*84A>T (n.*84A>T)
n.1361A>T
c.736A>T (p.Thr246Ser)
c.1225A>T (p.Thr409Ser)
c.822A>T (n.822A>T)
c.571A>T (p.Thr191Ser)
c.319+2330A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435482T>CCA381700863DHCR7c.1321A>G (p.Thr441Ala)
c.1147A>G (p.Thr383Ala)
c.1372A>G (p.Thr458Ala)
c.1357A>G (p.Thr453Ala)
c.*84A>G (n.*84A>G)
n.1361A>G
c.736A>G (p.Thr246Ala)
c.1225A>G (p.Thr409Ala)
c.822A>G (n.822A>G)
c.571A>G (p.Thr191Ala)
c.319+2330A>G
 ClinVar dbSNP
11g.71435482T>GCA381700862DHCR7c.1321A>C (p.Thr441Pro)
c.1147A>C (p.Thr383Pro)
c.1372A>C (p.Thr458Pro)
c.1357A>C (p.Thr453Pro)
c.*84A>C (n.*84A>C)
n.1361A>C
c.736A>C (p.Thr246Pro)
c.1225A>C (p.Thr409Pro)
c.822A>C (n.822A>C)
c.571A>C (p.Thr191Pro)
c.319+2330A>C
11g.71435482T=CA1981486843DHCR7c.1321A= (p.Thr441=)
c.1147A= (p.Thr383=)
c.1372A= (p.Thr458=)
c.1357A= (p.Thr453=)
c.*84A= (n.*84A=)
n.1361A=
c.736A= (p.Thr246=)
c.1225A= (p.Thr409=)
c.822A= (n.822A=)
c.571A= (p.Thr191=)
c.319+2330A=
11g.71435483C>ACA475566027DHCR7c.1320G>T (p.Leu440=)
c.1146G>T (p.Leu382=)
c.1371G>T (p.Leu457=)
c.1356G>T (p.Leu452=)
c.*83G>T (n.*83G>T)
n.1360G>T
c.735G>T (p.Leu245=)
c.1224G>T (p.Leu408=)
c.821G>T (n.821G>T)
c.570G>T (p.Leu190=)
c.319+2329G>T
11g.71435483C=CA1981486844DHCR7c.1320G= (p.Leu440=)
c.1146G= (p.Leu382=)
c.1371G= (p.Leu457=)
c.1356G= (p.Leu452=)
c.*83G= (n.*83G=)
n.1360G=
c.735G= (p.Leu245=)
c.1224G= (p.Leu408=)
c.821G= (n.821G=)
c.570G= (p.Leu190=)
c.319+2329G=
11g.71435483C>GCA475566029DHCR7c.1320G>C (p.Leu440=)
c.1146G>C (p.Leu382=)
c.1371G>C (p.Leu457=)
c.1356G>C (p.Leu452=)
c.*83G>C (n.*83G>C)
n.1360G>C
c.735G>C (p.Leu245=)
c.1224G>C (p.Leu408=)
c.821G>C (n.821G>C)
c.570G>C (p.Leu190=)
c.319+2329G>C
11g.71435483C>TCA6162265DHCR7c.1320G>A (p.Leu440=)
c.1146G>A (p.Leu382=)
c.1371G>A (p.Leu457=)
c.1356G>A (p.Leu452=)
c.*83G>A (n.*83G>A)
n.1360G>A
c.735G>A (p.Leu245=)
c.1224G>A (p.Leu408=)
c.821G>A (n.821G>A)
c.570G>A (p.Leu190=)
c.319+2329G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435484A>CCA381700869DHCR7c.1319T>G (p.Leu440Arg)
c.1145T>G (p.Leu382Arg)
c.1370T>G (p.Leu457Arg)
c.1355T>G (p.Leu452Arg)
c.*82T>G (n.*82T>G)
n.1359T>G
c.734T>G (p.Leu245Arg)
c.1223T>G (p.Leu408Arg)
c.820T>G (n.820T>G)
c.569T>G (p.Leu190Arg)
c.319+2328T>G
11g.71435484A>GCA381700872DHCR7c.1319T>C (p.Leu440Pro)
c.1145T>C (p.Leu382Pro)
c.1370T>C (p.Leu457Pro)
c.1355T>C (p.Leu452Pro)
c.*82T>C (n.*82T>C)
n.1359T>C
c.734T>C (p.Leu245Pro)
c.1223T>C (p.Leu408Pro)
c.820T>C (n.820T>C)
c.569T>C (p.Leu190Pro)
c.319+2328T>C
 gnomAD v4
11g.71435484A>TCA381700873DHCR7c.1319T>A (p.Leu440Gln)
c.1145T>A (p.Leu382Gln)
c.1370T>A (p.Leu457Gln)
c.1355T>A (p.Leu452Gln)
c.*82T>A (n.*82T>A)
n.1359T>A
c.734T>A (p.Leu245Gln)
c.1223T>A (p.Leu408Gln)
c.820T>A (n.820T>A)
c.569T>A (p.Leu190Gln)
c.319+2328T>A
11g.71435485G>ACA475566036DHCR7c.1318C>T (p.Leu440=)
c.1144C>T (p.Leu382=)
c.1369C>T (p.Leu457=)
c.1354C>T (p.Leu452=)
c.*81C>T (n.*81C>T)
n.1358C>T
c.733C>T (p.Leu245=)
c.1222C>T (p.Leu408=)
c.819C>T (n.819C>T)
c.568C>T (p.Leu190=)
c.319+2327C>T
 ClinVar dbSNP
11g.71435485G>CCA381700875DHCR7c.1318C>G (p.Leu440Val)
c.1144C>G (p.Leu382Val)
c.1369C>G (p.Leu457Val)
c.1354C>G (p.Leu452Val)
c.*81C>G (n.*81C>G)
n.1358C>G
c.733C>G (p.Leu245Val)
c.1222C>G (p.Leu408Val)
c.819C>G (n.819C>G)
c.568C>G (p.Leu190Val)
c.319+2327C>G
 dbSNP gnomAD v3 gnomAD v4
11g.71435485G=CA1981486845DHCR7c.1318C= (p.Leu440=)
c.1144C= (p.Leu382=)
c.1369C= (p.Leu457=)
c.1354C= (p.Leu452=)
c.*81C= (n.*81C=)
n.1358C=
c.733C= (p.Leu245=)
c.1222C= (p.Leu408=)
c.819C= (n.819C=)
c.568C= (p.Leu190=)
c.319+2327C=
11g.71435485G>TCA381700878DHCR7c.1318C>A (p.Leu440Met)
c.1144C>A (p.Leu382Met)
c.1369C>A (p.Leu457Met)
c.1354C>A (p.Leu452Met)
c.*81C>A (n.*81C>A)
n.1358C>A
c.733C>A (p.Leu245Met)
c.1222C>A (p.Leu408Met)
c.819C>A (n.819C>A)
c.568C>A (p.Leu190Met)
c.319+2327C>A
11g.71435486C>ACA475566045DHCR7c.1317G>T (p.Leu439=)
c.1143G>T (p.Leu381=)
c.1368G>T (p.Leu456=)
c.1353G>T (p.Leu451=)
c.*80G>T (n.*80G>T)
n.1357G>T
c.732G>T (p.Leu244=)
c.1221G>T (p.Leu407=)
c.818G>T (n.818G>T)
c.567G>T (p.Leu189=)
c.319+2326G>T
11g.71435486C>GCA475566043DHCR7c.1317G>C (p.Leu439=)
c.1143G>C (p.Leu381=)
c.1368G>C (p.Leu456=)
c.1353G>C (p.Leu451=)
c.*80G>C (n.*80G>C)
n.1357G>C
c.732G>C (p.Leu244=)
c.1221G>C (p.Leu407=)
c.818G>C (n.818G>C)
c.567G>C (p.Leu189=)
c.319+2326G>C
11g.71435486C>TCA475566041DHCR7c.1317G>A (p.Leu439=)
c.1143G>A (p.Leu381=)
c.1368G>A (p.Leu456=)
c.1353G>A (p.Leu451=)
c.*80G>A (n.*80G>A)
n.1357G>A
c.732G>A (p.Leu244=)
c.1221G>A (p.Leu407=)
c.818G>A (n.818G>A)
c.567G>A (p.Leu189=)
c.319+2326G>A
11g.71435487A>CCA381700881DHCR7c.1316T>G (p.Leu439Arg)
c.1142T>G (p.Leu381Arg)
c.1367T>G (p.Leu456Arg)
c.1352T>G (p.Leu451Arg)
c.*79T>G (n.*79T>G)
n.1356T>G
c.731T>G (p.Leu244Arg)
c.1220T>G (p.Leu407Arg)
c.817T>G (n.817T>G)
c.566T>G (p.Leu189Arg)
c.319+2325T>G
11g.71435487A>GCA381700884DHCR7c.1316T>C (p.Leu439Pro)
c.1142T>C (p.Leu381Pro)
c.1367T>C (p.Leu456Pro)
c.1352T>C (p.Leu451Pro)
c.*79T>C (n.*79T>C)
n.1356T>C
c.731T>C (p.Leu244Pro)
c.1220T>C (p.Leu407Pro)
c.817T>C (n.817T>C)
c.566T>C (p.Leu189Pro)
c.319+2325T>C
11g.71435487A>TCA381700885DHCR7c.1316T>A (p.Leu439Gln)
c.1142T>A (p.Leu381Gln)
c.1367T>A (p.Leu456Gln)
c.1352T>A (p.Leu451Gln)
c.*79T>A (n.*79T>A)
n.1356T>A
c.731T>A (p.Leu244Gln)
c.1220T>A (p.Leu407Gln)
c.817T>A (n.817T>A)
c.566T>A (p.Leu189Gln)
c.319+2325T>A
11g.71435488G>ACA475566050DHCR7c.1315C>T (p.Leu439=)
c.1141C>T (p.Leu381=)
c.1366C>T (p.Leu456=)
c.1351C>T (p.Leu451=)
c.*78C>T (n.*78C>T)
n.1355C>T
c.730C>T (p.Leu244=)
c.1219C>T (p.Leu407=)
c.816C>T (n.816C>T)
c.565C>T (p.Leu189=)
c.319+2324C>T
 ClinVar dbSNP
11g.71435488G>CCA381700887DHCR7c.1315C>G (p.Leu439Val)
c.1141C>G (p.Leu381Val)
c.1366C>G (p.Leu456Val)
c.1351C>G (p.Leu451Val)
c.*78C>G (n.*78C>G)
n.1355C>G
c.730C>G (p.Leu244Val)
c.1219C>G (p.Leu407Val)
c.816C>G (n.816C>G)
c.565C>G (p.Leu189Val)
c.319+2324C>G
11g.71435488G>TCA381700889DHCR7c.1315C>A (p.Leu439Met)
c.1141C>A (p.Leu381Met)
c.1366C>A (p.Leu456Met)
c.1351C>A (p.Leu451Met)
c.*78C>A (n.*78C>A)
n.1355C>A
c.730C>A (p.Leu244Met)
c.1219C>A (p.Leu407Met)
c.816C>A (n.816C>A)
c.565C>A (p.Leu189Met)
c.319+2324C>A
 gnomAD v4
11g.71435489G>ACA475566051DHCR7c.1314C>T (p.Ile438=)
c.1140C>T (p.Ile380=)
c.1365C>T (p.Ile455=)
c.1350C>T (p.Ile450=)
c.*77C>T (n.*77C>T)
n.1354C>T
c.729C>T (p.Ile243=)
c.1218C>T (p.Ile406=)
c.815C>T (n.815C>T)
c.564C>T (p.Ile188=)
c.319+2323C>T
 ClinVar dbSNP gnomAD v4
11g.71435489G>CCA6162266DHCR7c.1314C>G (p.Ile438Met)
c.1140C>G (p.Ile380Met)
c.1365C>G (p.Ile455Met)
c.1350C>G (p.Ile450Met)
c.*77C>G (n.*77C>G)
n.1354C>G
c.729C>G (p.Ile243Met)
c.1218C>G (p.Ile406Met)
c.815C>G (n.815C>G)
c.564C>G (p.Ile188Met)
c.319+2323C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435489G=CA1981486846DHCR7c.1314C= (p.Ile438=)
c.1140C= (p.Ile380=)
c.1365C= (p.Ile455=)
c.1350C= (p.Ile450=)
c.*77C= (n.*77C=)
n.1354C=
c.729C= (p.Ile243=)
c.1218C= (p.Ile406=)
c.815C= (n.815C=)
c.564C= (p.Ile188=)
c.319+2323C=
11g.71435489G>TCA475566052DHCR7c.1314C>A (p.Ile438=)
c.1140C>A (p.Ile380=)
c.1365C>A (p.Ile455=)
c.1350C>A (p.Ile450=)
c.*77C>A (n.*77C>A)
n.1354C>A
c.729C>A (p.Ile243=)
c.1218C>A (p.Ile406=)
c.815C>A (n.815C>A)
c.564C>A (p.Ile188=)
c.319+2323C>A
11g.71435490A>CCA381700894DHCR7c.1313T>G (p.Ile438Ser)
c.1139T>G (p.Ile380Ser)
c.1364T>G (p.Ile455Ser)
c.1349T>G (p.Ile450Ser)
c.*76T>G (n.*76T>G)
n.1353T>G
c.728T>G (p.Ile243Ser)
c.1217T>G (p.Ile406Ser)
c.814T>G (n.814T>G)
c.563T>G (p.Ile188Ser)
c.319+2322T>G
 gnomAD v4
11g.71435490A>GCA381700897DHCR7c.1313T>C (p.Ile438Thr)
c.1139T>C (p.Ile380Thr)
c.1364T>C (p.Ile455Thr)
c.1349T>C (p.Ile450Thr)
c.*76T>C (n.*76T>C)
n.1353T>C
c.728T>C (p.Ile243Thr)
c.1217T>C (p.Ile406Thr)
c.814T>C (n.814T>C)
c.563T>C (p.Ile188Thr)
c.319+2322T>C
11g.71435490A>TCA381700896DHCR7c.1313T>A (p.Ile438Asn)
c.1139T>A (p.Ile380Asn)
c.1364T>A (p.Ile455Asn)
c.1349T>A (p.Ile450Asn)
c.*76T>A (n.*76T>A)
n.1353T>A
c.728T>A (p.Ile243Asn)
c.1217T>A (p.Ile406Asn)
c.814T>A (n.814T>A)
c.563T>A (p.Ile188Asn)
c.319+2322T>A
11g.71435491T>ACA381700901DHCR7c.1312A>T (p.Ile438Phe)
c.1138A>T (p.Ile380Phe)
c.1363A>T (p.Ile455Phe)
c.1348A>T (p.Ile450Phe)
c.*75A>T (n.*75A>T)
n.1352A>T
c.727A>T (p.Ile243Phe)
c.1216A>T (p.Ile406Phe)
c.813A>T (n.813A>T)
c.562A>T (p.Ile188Phe)
c.319+2321A>T
11g.71435491T>CCA381700903DHCR7c.1312A>G (p.Ile438Val)
c.1138A>G (p.Ile380Val)
c.1363A>G (p.Ile455Val)
c.1348A>G (p.Ile450Val)
c.*75A>G (n.*75A>G)
n.1352A>G
c.727A>G (p.Ile243Val)
c.1216A>G (p.Ile406Val)
c.813A>G (n.813A>G)
c.562A>G (p.Ile188Val)
c.319+2321A>G
11g.71435491T>GCA381700905DHCR7c.1312A>C (p.Ile438Leu)
c.1138A>C (p.Ile380Leu)
c.1363A>C (p.Ile455Leu)
c.1348A>C (p.Ile450Leu)
c.*75A>C (n.*75A>C)
n.1352A>C
c.727A>C (p.Ile243Leu)
c.1216A>C (p.Ile406Leu)
c.813A>C (n.813A>C)
c.562A>C (p.Ile188Leu)
c.319+2321A>C
11g.71435492G>ACA475566061DHCR7c.1311C>T (p.Ala437=)
c.1137C>T (p.Ala379=)
c.1362C>T (p.Ala454=)
c.1347C>T (p.Ala449=)
c.*74C>T (n.*74C>T)
n.1351C>T
c.726C>T (p.Ala242=)
c.1215C>T (p.Ala405=)
c.812C>T (n.812C>T)
c.561C>T (p.Ala187=)
c.319+2320C>T
11g.71435492G>CCA475566063DHCR7c.1311C>G (p.Ala437=)
c.1137C>G (p.Ala379=)
c.1362C>G (p.Ala454=)
c.1347C>G (p.Ala449=)
c.*74C>G (n.*74C>G)
n.1351C>G
c.726C>G (p.Ala242=)
c.1215C>G (p.Ala405=)
c.812C>G (n.812C>G)
c.561C>G (p.Ala187=)
c.319+2320C>G
11g.71435492G>TCA475566065DHCR7c.1311C>A (p.Ala437=)
c.1137C>A (p.Ala379=)
c.1362C>A (p.Ala454=)
c.1347C>A (p.Ala449=)
c.*74C>A (n.*74C>A)
n.1351C>A
c.726C>A (p.Ala242=)
c.1215C>A (p.Ala405=)
c.812C>A (n.812C>A)
c.561C>A (p.Ala187=)
c.319+2320C>A
 gnomAD v4
11g.71435493G>ACA381700908DHCR7c.1310C>T (p.Ala437Val)
c.1136C>T (p.Ala379Val)
c.1361C>T (p.Ala454Val)
c.1346C>T (p.Ala449Val)
c.*73C>T (n.*73C>T)
n.1350C>T
c.725C>T (p.Ala242Val)
c.1214C>T (p.Ala405Val)
c.811C>T (n.811C>T)
c.560C>T (p.Ala187Val)
c.319+2319C>T
 gnomAD v4
11g.71435493G>CCA381700911DHCR7c.1310C>G (p.Ala437Gly)
c.1136C>G (p.Ala379Gly)
c.1361C>G (p.Ala454Gly)
c.1346C>G (p.Ala449Gly)
c.*73C>G (n.*73C>G)
n.1350C>G
c.725C>G (p.Ala242Gly)
c.1214C>G (p.Ala405Gly)
c.811C>G (n.811C>G)
c.560C>G (p.Ala187Gly)
c.319+2319C>G
11g.71435493G>TCA381700913DHCR7c.1310C>A (p.Ala437Asp)
c.1136C>A (p.Ala379Asp)
c.1361C>A (p.Ala454Asp)
c.1346C>A (p.Ala449Asp)
c.*73C>A (n.*73C>A)
n.1350C>A
c.725C>A (p.Ala242Asp)
c.1214C>A (p.Ala405Asp)
c.811C>A (n.811C>A)
c.560C>A (p.Ala187Asp)
c.319+2319C>A
11g.71435494C>ACA381700917DHCR7c.1309G>T (p.Ala437Ser)
c.1135G>T (p.Ala379Ser)
c.1360G>T (p.Ala454Ser)
c.1345G>T (p.Ala449Ser)
c.*72G>T (n.*72G>T)
n.1349G>T
c.724G>T (p.Ala242Ser)
c.1213G>T (p.Ala405Ser)
c.810G>T (n.810G>T)
c.559G>T (p.Ala187Ser)
c.319+2318G>T
11g.71435494C=CA1981486847DHCR7c.1309G= (p.Ala437=)
c.1135G= (p.Ala379=)
c.1360G= (p.Ala454=)
c.1345G= (p.Ala449=)
c.*72G= (n.*72G=)
n.1349G=
c.724G= (p.Ala242=)
c.1213G= (p.Ala405=)
c.810G= (n.810G=)
c.559G= (p.Ala187=)
c.319+2318G=
11g.71435494C>GCA381700919DHCR7c.1309G>C (p.Ala437Pro)
c.1135G>C (p.Ala379Pro)
c.1360G>C (p.Ala454Pro)
c.1345G>C (p.Ala449Pro)
c.*72G>C (n.*72G>C)
n.1349G>C
c.724G>C (p.Ala242Pro)
c.1213G>C (p.Ala405Pro)
c.810G>C (n.810G>C)
c.559G>C (p.Ala187Pro)
c.319+2318G>C
11g.71435494C>TCA381700921DHCR7c.1309G>A (p.Ala437Thr)
c.1135G>A (p.Ala379Thr)
c.1360G>A (p.Ala454Thr)
c.1345G>A (p.Ala449Thr)
c.*72G>A (n.*72G>A)
n.1349G>A
c.724G>A (p.Ala242Thr)
c.1213G>A (p.Ala405Thr)
c.810G>A (n.810G>A)
c.559G>A (p.Ala187Thr)
c.319+2318G>A
 dbSNP gnomAD v2 gnomAD v4
11g.71435495C>ACA381700927DHCR7c.1308G>T (p.Met436Ile)
c.1134G>T (p.Met378Ile)
c.1359G>T (p.Met453Ile)
c.1344G>T (p.Met448Ile)
c.*71G>T (n.*71G>T)
n.1348G>T
c.723G>T (p.Met241Ile)
c.1212G>T (p.Met404Ile)
c.809G>T (n.809G>T)
c.558G>T (p.Met186Ile)
c.319+2317G>T
11g.71435495C>GCA381700930DHCR7c.1308G>C (p.Met436Ile)
c.1134G>C (p.Met378Ile)
c.1359G>C (p.Met453Ile)
c.1344G>C (p.Met448Ile)
c.*71G>C (n.*71G>C)
n.1348G>C
c.723G>C (p.Met241Ile)
c.1212G>C (p.Met404Ile)
c.809G>C (n.809G>C)
c.558G>C (p.Met186Ile)
c.319+2317G>C
11g.71435495C>TCA381700925DHCR7c.1308G>A (p.Met436Ile)
c.1134G>A (p.Met378Ile)
c.1359G>A (p.Met453Ile)
c.1344G>A (p.Met448Ile)
c.*71G>A (n.*71G>A)
n.1348G>A
c.723G>A (p.Met241Ile)
c.1212G>A (p.Met404Ile)
c.809G>A (n.809G>A)
c.558G>A (p.Met186Ile)
c.319+2317G>A
11g.71435495_71435501delinsCATGTAGCA1981486848DHCR7c.1302_1308delinsCTACATG (p.Ile434=)
c.1128_1134delinsCTACATG (p.Ile376=)
c.1353_1359delinsCTACATG (p.Ile451=)
c.1338_1344delinsCTACATG (p.Ile446=)
c.*65_*71delinsCTACATG (n.*65_*71delinsCTACATG)
n.1342_1348delinsCTACATG
c.717_723delinsCTACATG (p.Ile239=)
c.1206_1212delinsCTACATG (p.Ile402=)
c.803_809delinsCTACATG (n.803_809delinsCTACATG)
c.552_558delinsCTACATG (p.Ile184=)
c.319+2311_319+2317delinsCTACATG
11g.71435495_71435510delinsCATGTAGATGATGTAGCA1981486849DHCR7c.1293_1308delinsCTACATCATCTACATG (p.Phe431=)
c.1119_1134delinsCTACATCATCTACATG (p.Phe373=)
c.1344_1359delinsCTACATCATCTACATG (p.Phe448=)
c.1329_1344delinsCTACATCATCTACATG (p.Phe443=)
c.*56_*71delinsCTACATCATCTACATG (n.*56_*71delinsCTACATCATCTACATG)
n.1333_1348delinsCTACATCATCTACATG
c.708_723delinsCTACATCATCTACATG (p.Phe236=)
c.1197_1212delinsCTACATCATCTACATG (p.Phe399=)
c.794_809delinsCTACATCATCTACATG (n.794_809delinsCTACATCATCTACATG)
c.543_558delinsCTACATCATCTACATG (p.Phe181=)
c.319+2302_319+2317delinsCTACATCATCTACATG
11g.71435496A=CA1981486850DHCR7c.1307T= (p.Met436=)
c.1133T= (p.Met378=)
c.1358T= (p.Met453=)
c.1343T= (p.Met448=)
c.*70T= (n.*70T=)
n.1347T=
c.722T= (p.Met241=)
c.1211T= (p.Met404=)
c.808T= (n.808T=)
c.557T= (p.Met186=)
c.319+2316T=
11g.71435496A>CCA381700931DHCR7c.1307T>G (p.Met436Arg)
c.1133T>G (p.Met378Arg)
c.1358T>G (p.Met453Arg)
c.1343T>G (p.Met448Arg)
c.*70T>G (n.*70T>G)
n.1347T>G
c.722T>G (p.Met241Arg)
c.1211T>G (p.Met404Arg)
c.808T>G (n.808T>G)
c.557T>G (p.Met186Arg)
c.319+2316T>G
11g.71435496A>GCA381700933DHCR7c.1307T>C (p.Met436Thr)
c.1133T>C (p.Met378Thr)
c.1358T>C (p.Met453Thr)
c.1343T>C (p.Met448Thr)
c.*70T>C (n.*70T>C)
n.1347T>C
c.722T>C (p.Met241Thr)
c.1211T>C (p.Met404Thr)
c.808T>C (n.808T>C)
c.557T>C (p.Met186Thr)
c.319+2316T>C
 dbSNP
11g.71435496A>TCA381700936DHCR7c.1307T>A (p.Met436Lys)
c.1133T>A (p.Met378Lys)
c.1358T>A (p.Met453Lys)
c.1343T>A (p.Met448Lys)
c.*70T>A (n.*70T>A)
n.1347T>A
c.722T>A (p.Met241Lys)
c.1211T>A (p.Met404Lys)
c.808T>A (n.808T>A)
c.557T>A (p.Met186Lys)
c.319+2316T>A
11g.71435499_71435504delCA679810496DHCR7c.1302_1307del (p.Ile434_Tyr435del)
c.1128_1133del (p.Ile376_Tyr377del)
c.1353_1358del (p.Ile451_Tyr452del)
c.1338_1343del (p.Ile446_Tyr447del)
c.*65_*70del (n.*65_*70del)
n.1342_1347del
c.717_722del (p.Ile239_Tyr240del)
c.1206_1211del (p.Ile402_Tyr403del)
c.803_808del (n.803_808del)
c.552_557del (p.Ile184_Tyr185del)
c.319+2311_319+2316del
 dbSNP
11g.71435497_71435511delCA679810499DHCR7c.1293_1307del (p.Phe431_Met436delinsLeu)
c.1119_1133del (p.Phe373_Met378delinsLeu)
c.1344_1358del (p.Phe448_Met453delinsLeu)
c.1329_1343del (p.Phe443_Met448delinsLeu)
c.*56_*70del (n.*56_*70del)
n.1333_1347del
c.708_722del (p.Phe236_Met241delinsLeu)
c.1197_1211del (p.Phe399_Met404delinsLeu)
c.794_808del (n.794_808del)
c.543_557del (p.Phe181_Met186delinsLeu)
c.319+2302_319+2316del
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.71435497T>ACA381700939DHCR7c.1306A>T (p.Met436Leu)
c.1132A>T (p.Met378Leu)
c.1357A>T (p.Met453Leu)
c.1342A>T (p.Met448Leu)
c.*69A>T (n.*69A>T)
n.1346A>T
c.721A>T (p.Met241Leu)
c.1210A>T (p.Met404Leu)
c.807A>T (n.807A>T)
c.556A>T (p.Met186Leu)
c.319+2315A>T
11g.71435497T>CCA381700941DHCR7c.1306A>G (p.Met436Val)
c.1132A>G (p.Met378Val)
c.1357A>G (p.Met453Val)
c.1342A>G (p.Met448Val)
c.*69A>G (n.*69A>G)
n.1346A>G
c.721A>G (p.Met241Val)
c.1210A>G (p.Met404Val)
c.807A>G (n.807A>G)
c.556A>G (p.Met186Val)
c.319+2315A>G
 dbSNP gnomAD v2 gnomAD v4
11g.71435497T>GCA381700949DHCR7c.1306A>C (p.Met436Leu)
c.1132A>C (p.Met378Leu)
c.1357A>C (p.Met453Leu)
c.1342A>C (p.Met448Leu)
c.*69A>C (n.*69A>C)
n.1346A>C
c.721A>C (p.Met241Leu)
c.1210A>C (p.Met404Leu)
c.807A>C (n.807A>C)
c.556A>C (p.Met186Leu)
c.319+2315A>C
11g.71435497T=CA1981486851DHCR7c.1306A= (p.Met436=)
c.1132A= (p.Met378=)
c.1357A= (p.Met453=)
c.1342A= (p.Met448=)
c.*69A= (n.*69A=)
n.1346A=
c.721A= (p.Met241=)
c.1210A= (p.Met404=)
c.807A= (n.807A=)
c.556A= (p.Met186=)
c.319+2315A=
11g.71435498G>ACA475860931DHCR7c.1305C>T (p.Tyr435=)
c.1131C>T (p.Tyr377=)
c.1356C>T (p.Tyr452=)
c.1341C>T (p.Tyr447=)
c.*68C>T (n.*68C>T)
n.1345C>T
c.720C>T (p.Tyr240=)
c.1209C>T (p.Tyr403=)
c.806C>T (n.806C>T)
c.555C>T (p.Tyr185=)
c.319+2314C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71435498G>CCA381700952DHCR7c.1305C>G (p.Tyr435Ter)
c.1131C>G (p.Tyr377Ter)
c.1356C>G (p.Tyr452Ter)
c.1341C>G (p.Tyr447Ter)
c.*68C>G (n.*68C>G)
n.1345C>G
c.720C>G (p.Tyr240Ter)
c.1209C>G (p.Tyr403Ter)
c.806C>G (n.806C>G)
c.555C>G (p.Tyr185Ter)
c.319+2314C>G
11g.71435498G>TCA381700955DHCR7c.1305C>A (p.Tyr435Ter)
c.1131C>A (p.Tyr377Ter)
c.1356C>A (p.Tyr452Ter)
c.1341C>A (p.Tyr447Ter)
c.*68C>A (n.*68C>A)
n.1345C>A
c.720C>A (p.Tyr240Ter)
c.1209C>A (p.Tyr403Ter)
c.806C>A (n.806C>A)
c.555C>A (p.Tyr185Ter)
c.319+2314C>A
11g.71435499T>ACA381700958DHCR7c.1304A>T (p.Tyr435Phe)
c.1130A>T (p.Tyr377Phe)
c.1355A>T (p.Tyr452Phe)
c.1340A>T (p.Tyr447Phe)
c.*67A>T (n.*67A>T)
n.1344A>T
c.719A>T (p.Tyr240Phe)
c.1208A>T (p.Tyr403Phe)
c.805A>T (n.805A>T)
c.554A>T (p.Tyr185Phe)
c.319+2313A>T
11g.71435499T>CCA381700959DHCR7c.1304A>G (p.Tyr435Cys)
c.1130A>G (p.Tyr377Cys)
c.1355A>G (p.Tyr452Cys)
c.1340A>G (p.Tyr447Cys)
c.*67A>G (n.*67A>G)
n.1344A>G
c.719A>G (p.Tyr240Cys)
c.1208A>G (p.Tyr403Cys)
c.805A>G (n.805A>G)
c.554A>G (p.Tyr185Cys)
c.319+2313A>G
11g.71435499T>GCA381700962DHCR7c.1304A>C (p.Tyr435Ser)
c.1130A>C (p.Tyr377Ser)
c.1355A>C (p.Tyr452Ser)
c.1340A>C (p.Tyr447Ser)
c.*67A>C (n.*67A>C)
n.1344A>C
c.719A>C (p.Tyr240Ser)
c.1208A>C (p.Tyr403Ser)
c.805A>C (n.805A>C)
c.554A>C (p.Tyr185Ser)
c.319+2313A>C
11g.71435500A>CCA381700964DHCR7c.1303T>G (p.Tyr435Asp)
c.1129T>G (p.Tyr377Asp)
c.1354T>G (p.Tyr452Asp)
c.1339T>G (p.Tyr447Asp)
c.*66T>G (n.*66T>G)
n.1343T>G
c.718T>G (p.Tyr240Asp)
c.1207T>G (p.Tyr403Asp)
c.804T>G (n.804T>G)
c.553T>G (p.Tyr185Asp)
c.319+2312T>G
11g.71435500A>GCA381700973DHCR7c.1303T>C (p.Tyr435His)
c.1129T>C (p.Tyr377His)
c.1354T>C (p.Tyr452His)
c.1339T>C (p.Tyr447His)
c.*66T>C (n.*66T>C)
n.1343T>C
c.718T>C (p.Tyr240His)
c.1207T>C (p.Tyr403His)
c.804T>C (n.804T>C)
c.553T>C (p.Tyr185His)
c.319+2312T>C
11g.71435500A>TCA381700963DHCR7c.1303T>A (p.Tyr435Asn)
c.1129T>A (p.Tyr377Asn)
c.1354T>A (p.Tyr452Asn)
c.1339T>A (p.Tyr447Asn)
c.*66T>A (n.*66T>A)
n.1343T>A
c.718T>A (p.Tyr240Asn)
c.1207T>A (p.Tyr403Asn)
c.804T>A (n.804T>A)
c.553T>A (p.Tyr185Asn)
c.319+2312T>A
11g.71435501G>ACA475860932DHCR7c.1302C>T (p.Ile434=)
c.1128C>T (p.Ile376=)
c.1353C>T (p.Ile451=)
c.1338C>T (p.Ile446=)
c.*65C>T (n.*65C>T)
n.1342C>T
c.717C>T (p.Ile239=)
c.1206C>T (p.Ile402=)
c.803C>T (n.803C>T)
c.552C>T (p.Ile184=)
c.319+2311C>T
 dbSNP gnomAD v4
11g.71435501G>CCA381700977DHCR7c.1302C>G (p.Ile434Met)
c.1128C>G (p.Ile376Met)
c.1353C>G (p.Ile451Met)
c.1338C>G (p.Ile446Met)
c.*65C>G (n.*65C>G)
n.1342C>G
c.717C>G (p.Ile239Met)
c.1206C>G (p.Ile402Met)
c.803C>G (n.803C>G)
c.552C>G (p.Ile184Met)
c.319+2311C>G
 gnomAD v4
11g.71435501G=CA1981486852DHCR7c.1302C= (p.Ile434=)
c.1128C= (p.Ile376=)
c.1353C= (p.Ile451=)
c.1338C= (p.Ile446=)
c.*65C= (n.*65C=)
n.1342C=
c.717C= (p.Ile239=)
c.1206C= (p.Ile402=)
c.803C= (n.803C=)
c.552C= (p.Ile184=)
c.319+2311C=
11g.71435501G>TCA475860933DHCR7c.1302C>A (p.Ile434=)
c.1128C>A (p.Ile376=)
c.1353C>A (p.Ile451=)
c.1338C>A (p.Ile446=)
c.*65C>A (n.*65C>A)
n.1342C>A
c.717C>A (p.Ile239=)
c.1206C>A (p.Ile402=)
c.803C>A (n.803C>A)
c.552C>A (p.Ile184=)
c.319+2311C>A
 gnomAD v4
11g.71435502A>CCA381700980DHCR7c.1301T>G (p.Ile434Ser)
c.1127T>G (p.Ile376Ser)
c.1352T>G (p.Ile451Ser)
c.1337T>G (p.Ile446Ser)
c.*64T>G (n.*64T>G)
n.1341T>G
c.716T>G (p.Ile239Ser)
c.1205T>G (p.Ile402Ser)
c.802T>G (n.802T>G)
c.551T>G (p.Ile184Ser)
c.319+2310T>G
11g.71435502A>GCA381700981DHCR7c.1301T>C (p.Ile434Thr)
c.1127T>C (p.Ile376Thr)
c.1352T>C (p.Ile451Thr)
c.1337T>C (p.Ile446Thr)
c.*64T>C (n.*64T>C)
n.1341T>C
c.716T>C (p.Ile239Thr)
c.1205T>C (p.Ile402Thr)
c.802T>C (n.802T>C)
c.551T>C (p.Ile184Thr)
c.319+2310T>C
11g.71435502A>TCA381700983DHCR7c.1301T>A (p.Ile434Asn)
c.1127T>A (p.Ile376Asn)
c.1352T>A (p.Ile451Asn)
c.1337T>A (p.Ile446Asn)
c.*64T>A (n.*64T>A)
n.1341T>A
c.716T>A (p.Ile239Asn)
c.1205T>A (p.Ile402Asn)
c.802T>A (n.802T>A)
c.551T>A (p.Ile184Asn)
c.319+2310T>A
11g.71435503T>ACA381700988DHCR7c.1300A>T (p.Ile434Phe)
c.1126A>T (p.Ile376Phe)
c.1351A>T (p.Ile451Phe)
c.1336A>T (p.Ile446Phe)
c.*63A>T (n.*63A>T)
n.1340A>T
c.715A>T (p.Ile239Phe)
c.1204A>T (p.Ile402Phe)
c.801A>T (n.801A>T)
c.550A>T (p.Ile184Phe)
c.319+2309A>T
11g.71435503T>CCA224324006DHCR7c.1300A>G (p.Ile434Val)
c.1126A>G (p.Ile376Val)
c.1351A>G (p.Ile451Val)
c.1336A>G (p.Ile446Val)
c.*63A>G (n.*63A>G)
n.1340A>G
c.715A>G (p.Ile239Val)
c.1204A>G (p.Ile402Val)
c.801A>G (n.801A>G)
c.550A>G (p.Ile184Val)
c.319+2309A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435503T>GCA381700985DHCR7c.1300A>C (p.Ile434Leu)
c.1126A>C (p.Ile376Leu)
c.1351A>C (p.Ile451Leu)
c.1336A>C (p.Ile446Leu)
c.*63A>C (n.*63A>C)
n.1340A>C
c.715A>C (p.Ile239Leu)
c.1204A>C (p.Ile402Leu)
c.801A>C (n.801A>C)
c.550A>C (p.Ile184Leu)
c.319+2309A>C
11g.71435503T=CA1981486853DHCR7c.1300A= (p.Ile434=)
c.1126A= (p.Ile376=)
c.1351A= (p.Ile451=)
c.1336A= (p.Ile446=)
c.*63A= (n.*63A=)
n.1340A=
c.715A= (p.Ile239=)
c.1204A= (p.Ile402=)
c.801A= (n.801A=)
c.550A= (p.Ile184=)
c.319+2309A=
11g.71435504G>ACA475860935DHCR7c.1299C>T (p.Ile433=)
c.1125C>T (p.Ile375=)
c.1350C>T (p.Ile450=)
c.1335C>T (p.Ile445=)
c.*62C>T (n.*62C>T)
n.1339C>T
c.714C>T (p.Ile238=)
c.1203C>T (p.Ile401=)
c.800C>T (n.800C>T)
c.549C>T (p.Ile183=)
c.319+2308C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71435504G>CCA381700991DHCR7c.1299C>G (p.Ile433Met)
c.1125C>G (p.Ile375Met)
c.1350C>G (p.Ile450Met)
c.1335C>G (p.Ile445Met)
c.*62C>G (n.*62C>G)
n.1339C>G
c.714C>G (p.Ile238Met)
c.1203C>G (p.Ile401Met)
c.800C>G (n.800C>G)
c.549C>G (p.Ile183Met)
c.319+2308C>G
11g.71435504G=CA1981486854DHCR7c.1299C= (p.Ile433=)
c.1125C= (p.Ile375=)
c.1350C= (p.Ile450=)
c.1335C= (p.Ile445=)
c.*62C= (n.*62C=)
n.1339C=
c.714C= (p.Ile238=)
c.1203C= (p.Ile401=)
c.800C= (n.800C=)
c.549C= (p.Ile183=)
c.319+2308C=
11g.71435504G>TCA475860936DHCR7c.1299C>A (p.Ile433=)
c.1125C>A (p.Ile375=)
c.1350C>A (p.Ile450=)
c.1335C>A (p.Ile445=)
c.*62C>A (n.*62C>A)
n.1339C>A
c.714C>A (p.Ile238=)
c.1203C>A (p.Ile401=)
c.800C>A (n.800C>A)
c.549C>A (p.Ile183=)
c.319+2308C>A
11g.71435505A>CCA381700995DHCR7c.1298T>G (p.Ile433Ser)
c.1124T>G (p.Ile375Ser)
c.1349T>G (p.Ile450Ser)
c.1334T>G (p.Ile445Ser)
c.*61T>G (n.*61T>G)
n.1338T>G
c.713T>G (p.Ile238Ser)
c.1202T>G (p.Ile401Ser)
c.799T>G (n.799T>G)
c.548T>G (p.Ile183Ser)
c.319+2307T>G
11g.71435505A>GCA381700997DHCR7c.1298T>C (p.Ile433Thr)
c.1124T>C (p.Ile375Thr)
c.1349T>C (p.Ile450Thr)
c.1334T>C (p.Ile445Thr)
c.*61T>C (n.*61T>C)
n.1338T>C
c.713T>C (p.Ile238Thr)
c.1202T>C (p.Ile401Thr)
c.799T>C (n.799T>C)
c.548T>C (p.Ile183Thr)
c.319+2307T>C
11g.71435505A>TCA381701000DHCR7c.1298T>A (p.Ile433Asn)
c.1124T>A (p.Ile375Asn)
c.1349T>A (p.Ile450Asn)
c.1334T>A (p.Ile445Asn)
c.*61T>A (n.*61T>A)
n.1338T>A
c.713T>A (p.Ile238Asn)
c.1202T>A (p.Ile401Asn)
c.799T>A (n.799T>A)
c.548T>A (p.Ile183Asn)
c.319+2307T>A
11g.71435506T>ACA381701002DHCR7c.1297A>T (p.Ile433Phe)
c.1123A>T (p.Ile375Phe)
c.1348A>T (p.Ile450Phe)
c.1333A>T (p.Ile445Phe)
c.*60A>T (n.*60A>T)
n.1337A>T
c.712A>T (p.Ile238Phe)
c.1201A>T (p.Ile401Phe)
c.798A>T (n.798A>T)
c.547A>T (p.Ile183Phe)
c.319+2306A>T
11g.71435506T>CCA381701004DHCR7c.1297A>G (p.Ile433Val)
c.1123A>G (p.Ile375Val)
c.1348A>G (p.Ile450Val)
c.1333A>G (p.Ile445Val)
c.*60A>G (n.*60A>G)
n.1337A>G
c.712A>G (p.Ile238Val)
c.1201A>G (p.Ile401Val)
c.798A>G (n.798A>G)
c.547A>G (p.Ile183Val)
c.319+2306A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71435506T>GCA381701006DHCR7c.1297A>C (p.Ile433Leu)
c.1123A>C (p.Ile375Leu)
c.1348A>C (p.Ile450Leu)
c.1333A>C (p.Ile445Leu)
c.*60A>C (n.*60A>C)
n.1337A>C
c.712A>C (p.Ile238Leu)
c.1201A>C (p.Ile401Leu)
c.798A>C (n.798A>C)
c.547A>C (p.Ile183Leu)
c.319+2306A>C
11g.71435506T=CA1981486855DHCR7c.1297A= (p.Ile433=)
c.1123A= (p.Ile375=)
c.1348A= (p.Ile450=)
c.1333A= (p.Ile445=)
c.*60A= (n.*60A=)
n.1337A=
c.712A= (p.Ile238=)
c.1201A= (p.Ile401=)
c.798A= (n.798A=)
c.547A= (p.Ile183=)
c.319+2306A=
11g.71435507G>ACA475860938DHCR7c.1296C>T (p.Tyr432=)
c.1122C>T (p.Tyr374=)
c.1347C>T (p.Tyr449=)
c.1332C>T (p.Tyr444=)
c.*59C>T (n.*59C>T)
n.1336C>T
c.711C>T (p.Tyr237=)
c.1200C>T (p.Tyr400=)
c.797C>T (n.797C>T)
c.546C>T (p.Tyr182=)
c.319+2305C>T
 gnomAD v4
11g.71435507G>CCA381701008DHCR7c.1296C>G (p.Tyr432Ter)
c.1122C>G (p.Tyr374Ter)
c.1347C>G (p.Tyr449Ter)
c.1332C>G (p.Tyr444Ter)
c.*59C>G (n.*59C>G)
n.1336C>G
c.711C>G (p.Tyr237Ter)
c.1200C>G (p.Tyr400Ter)
c.797C>G (n.797C>G)
c.546C>G (p.Tyr182Ter)
c.319+2305C>G
11g.71435507G>TCA381701011DHCR7c.1296C>A (p.Tyr432Ter)
c.1122C>A (p.Tyr374Ter)
c.1347C>A (p.Tyr449Ter)
c.1332C>A (p.Tyr444Ter)
c.*59C>A (n.*59C>A)
n.1336C>A
c.711C>A (p.Tyr237Ter)
c.1200C>A (p.Tyr400Ter)
c.797C>A (n.797C>A)
c.546C>A (p.Tyr182Ter)
c.319+2305C>A
 gnomAD v4
11g.71435508T>ACA381701014DHCR7c.1295A>T (p.Tyr432Phe)
c.1121A>T (p.Tyr374Phe)
c.1346A>T (p.Tyr449Phe)
c.1331A>T (p.Tyr444Phe)
c.*58A>T (n.*58A>T)
n.1335A>T
c.710A>T (p.Tyr237Phe)
c.1199A>T (p.Tyr400Phe)
c.796A>T (n.796A>T)
c.545A>T (p.Tyr182Phe)
c.319+2304A>T
 ClinVar dbSNP
11g.71435508T>CCA381701018DHCR7c.1295A>G (p.Tyr432Cys)
c.1121A>G (p.Tyr374Cys)
c.1346A>G (p.Tyr449Cys)
c.1331A>G (p.Tyr444Cys)
c.*58A>G (n.*58A>G)
n.1335A>G
c.710A>G (p.Tyr237Cys)
c.1199A>G (p.Tyr400Cys)
c.796A>G (n.796A>G)
c.545A>G (p.Tyr182Cys)
c.319+2304A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71435508T>GCA381701016DHCR7c.1295A>C (p.Tyr432Ser)
c.1121A>C (p.Tyr374Ser)
c.1346A>C (p.Tyr449Ser)
c.1331A>C (p.Tyr444Ser)
c.*58A>C (n.*58A>C)
n.1335A>C
c.710A>C (p.Tyr237Ser)
c.1199A>C (p.Tyr400Ser)
c.796A>C (n.796A>C)
c.545A>C (p.Tyr182Ser)
c.319+2304A>C
 gnomAD v4
11g.71435508T=CA1981486856DHCR7c.1295A= (p.Tyr432=)
c.1121A= (p.Tyr374=)
c.1346A= (p.Tyr449=)
c.1331A= (p.Tyr444=)
c.*58A= (n.*58A=)
n.1335A=
c.710A= (p.Tyr237=)
c.1199A= (p.Tyr400=)
c.796A= (n.796A=)
c.545A= (p.Tyr182=)
c.319+2304A=
11g.71435509A=CA1981486857DHCR7c.1294T= (p.Tyr432=)
c.1120T= (p.Tyr374=)
c.1345T= (p.Tyr449=)
c.1330T= (p.Tyr444=)
c.*57T= (n.*57T=)
n.1334T=
c.709T= (p.Tyr237=)
c.1198T= (p.Tyr400=)
c.795T= (n.795T=)
c.544T= (p.Tyr182=)
c.319+2303T=
11g.71435509A>CCA381701022DHCR7c.1294T>G (p.Tyr432Asp)
c.1120T>G (p.Tyr374Asp)
c.1345T>G (p.Tyr449Asp)
c.1330T>G (p.Tyr444Asp)
c.*57T>G (n.*57T>G)
n.1334T>G
c.709T>G (p.Tyr237Asp)
c.1198T>G (p.Tyr400Asp)
c.795T>G (n.795T>G)
c.544T>G (p.Tyr182Asp)
c.319+2303T>G
 dbSNP
11g.71435509A>GCA6162267DHCR7c.1294T>C (p.Tyr432His)
c.1120T>C (p.Tyr374His)
c.1345T>C (p.Tyr449His)
c.1330T>C (p.Tyr444His)
c.*57T>C (n.*57T>C)
n.1334T>C
c.709T>C (p.Tyr237His)
c.1198T>C (p.Tyr400His)
c.795T>C (n.795T>C)
c.544T>C (p.Tyr182His)
c.319+2303T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435509A>TCA381701023DHCR7c.1294T>A (p.Tyr432Asn)
c.1120T>A (p.Tyr374Asn)
c.1345T>A (p.Tyr449Asn)
c.1330T>A (p.Tyr444Asn)
c.*57T>A (n.*57T>A)
n.1334T>A
c.709T>A (p.Tyr237Asn)
c.1198T>A (p.Tyr400Asn)
c.795T>A (n.795T>A)
c.544T>A (p.Tyr182Asn)
c.319+2303T>A
11g.71435510G>ACA6162268DHCR7c.1293C>T (p.Phe431=)
c.1119C>T (p.Phe373=)
c.1344C>T (p.Phe448=)
c.1329C>T (p.Phe443=)
c.*56C>T (n.*56C>T)
n.1333C>T
c.708C>T (p.Phe236=)
c.1197C>T (p.Phe399=)
c.794C>T (n.794C>T)
c.543C>T (p.Phe181=)
c.319+2302C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435510G>CCA381701030DHCR7c.1293C>G (p.Phe431Leu)
c.1119C>G (p.Phe373Leu)
c.1344C>G (p.Phe448Leu)
c.1329C>G (p.Phe443Leu)
c.*56C>G (n.*56C>G)
n.1333C>G
c.708C>G (p.Phe236Leu)
c.1197C>G (p.Phe399Leu)
c.794C>G (n.794C>G)
c.543C>G (p.Phe181Leu)
c.319+2302C>G
 COSMIC COSMIC
11g.71435510G=CA1981486858DHCR7c.1293C= (p.Phe431=)
c.1119C= (p.Phe373=)
c.1344C= (p.Phe448=)
c.1329C= (p.Phe443=)
c.*56C= (n.*56C=)
n.1333C=
c.708C= (p.Phe236=)
c.1197C= (p.Phe399=)
c.794C= (n.794C=)
c.543C= (p.Phe181=)
c.319+2302C=
11g.71435510G>TCA381701027DHCR7c.1293C>A (p.Phe431Leu)
c.1119C>A (p.Phe373Leu)
c.1344C>A (p.Phe448Leu)
c.1329C>A (p.Phe443Leu)
c.*56C>A (n.*56C>A)
n.1333C>A
c.708C>A (p.Phe236Leu)
c.1197C>A (p.Phe399Leu)
c.794C>A (n.794C>A)
c.543C>A (p.Phe181Leu)
c.319+2302C>A
 gnomAD v4
11g.71435511A>CCA381701033DHCR7c.1292T>G (p.Phe431Cys)
c.1118T>G (p.Phe373Cys)
c.1343T>G (p.Phe448Cys)
c.1328T>G (p.Phe443Cys)
c.*55T>G (n.*55T>G)
n.1332T>G
c.707T>G (p.Phe236Cys)
c.1196T>G (p.Phe399Cys)
c.793T>G (n.793T>G)
c.542T>G (p.Phe181Cys)
c.319+2301T>G
11g.71435511A>GCA381701035DHCR7c.1292T>C (p.Phe431Ser)
c.1118T>C (p.Phe373Ser)
c.1343T>C (p.Phe448Ser)
c.1328T>C (p.Phe443Ser)
c.*55T>C (n.*55T>C)
n.1332T>C
c.707T>C (p.Phe236Ser)
c.1196T>C (p.Phe399Ser)
c.793T>C (n.793T>C)
c.542T>C (p.Phe181Ser)
c.319+2301T>C
11g.71435511A>TCA381701038DHCR7c.1292T>A (p.Phe431Tyr)
c.1118T>A (p.Phe373Tyr)
c.1343T>A (p.Phe448Tyr)
c.1328T>A (p.Phe443Tyr)
c.*55T>A (n.*55T>A)
n.1332T>A
c.707T>A (p.Phe236Tyr)
c.1196T>A (p.Phe399Tyr)
c.793T>A (n.793T>A)
c.542T>A (p.Phe181Tyr)
c.319+2301T>A
 gnomAD v4
11g.71435512A=CA1981486859DHCR7c.1291T= (p.Phe431=)
c.1117T= (p.Phe373=)
c.1342T= (p.Phe448=)
c.1327T= (p.Phe443=)
c.*54T= (n.*54T=)
n.1331T=
c.706T= (p.Phe236=)
c.1195T= (p.Phe399=)
c.792T= (n.792T=)
c.541T= (p.Phe181=)
c.319+2300T=
11g.71435512A>CCA381701039DHCR7c.1291T>G (p.Phe431Val)
c.1117T>G (p.Phe373Val)
c.1342T>G (p.Phe448Val)
c.1327T>G (p.Phe443Val)
c.*54T>G (n.*54T>G)
n.1331T>G
c.706T>G (p.Phe236Val)
c.1195T>G (p.Phe399Val)
c.792T>G (n.792T>G)
c.541T>G (p.Phe181Val)
c.319+2300T>G
11g.71435512A>GCA381701042DHCR7c.1291T>C (p.Phe431Leu)
c.1117T>C (p.Phe373Leu)
c.1342T>C (p.Phe448Leu)
c.1327T>C (p.Phe443Leu)
c.*54T>C (n.*54T>C)
n.1331T>C
c.706T>C (p.Phe236Leu)
c.1195T>C (p.Phe399Leu)
c.792T>C (n.792T>C)
c.541T>C (p.Phe181Leu)
c.319+2300T>C
 dbSNP gnomAD v2 gnomAD v4
11g.71435512A>TCA381701046DHCR7c.1291T>A (p.Phe431Ile)
c.1117T>A (p.Phe373Ile)
c.1342T>A (p.Phe448Ile)
c.1327T>A (p.Phe443Ile)
c.*54T>A (n.*54T>A)
n.1331T>A
c.706T>A (p.Phe236Ile)
c.1195T>A (p.Phe399Ile)
c.792T>A (n.792T>A)
c.541T>A (p.Phe181Ile)
c.319+2300T>A
11g.71435513G>ACA475860942DHCR7c.1290C>T (p.Tyr430=)
c.1116C>T (p.Tyr372=)
c.1341C>T (p.Tyr447=)
c.1326C>T (p.Tyr442=)
c.*53C>T (n.*53C>T)
n.1330C>T
c.705C>T (p.Tyr235=)
c.1194C>T (p.Tyr398=)
c.791C>T (n.791C>T)
c.540C>T (p.Tyr180=)
c.319+2299C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71435513G>CCA6162269DHCR7c.1290C>G (p.Tyr430Ter)
c.1116C>G (p.Tyr372Ter)
c.1341C>G (p.Tyr447Ter)
c.1326C>G (p.Tyr442Ter)
c.*53C>G (n.*53C>G)
n.1330C>G
c.705C>G (p.Tyr235Ter)
c.1194C>G (p.Tyr398Ter)
c.791C>G (n.791C>G)
c.540C>G (p.Tyr180Ter)
c.319+2299C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435513G=CA1981486860DHCR7c.1290C= (p.Tyr430=)
c.1116C= (p.Tyr372=)
c.1341C= (p.Tyr447=)
c.1326C= (p.Tyr442=)
c.*53C= (n.*53C=)
n.1330C=
c.705C= (p.Tyr235=)
c.1194C= (p.Tyr398=)
c.791C= (n.791C=)
c.540C= (p.Tyr180=)
c.319+2299C=
11g.71435513G>TCA381701050DHCR7c.1290C>A (p.Tyr430Ter)
c.1116C>A (p.Tyr372Ter)
c.1341C>A (p.Tyr447Ter)
c.1326C>A (p.Tyr442Ter)
c.*53C>A (n.*53C>A)
n.1330C>A
c.705C>A (p.Tyr235Ter)
c.1194C>A (p.Tyr398Ter)
c.791C>A (n.791C>A)
c.540C>A (p.Tyr180Ter)
c.319+2299C>A
11g.71435514T>ACA381701053DHCR7c.1289A>T (p.Tyr430Phe)
c.1115A>T (p.Tyr372Phe)
c.1340A>T (p.Tyr447Phe)
c.1325A>T (p.Tyr442Phe)
c.*52A>T (n.*52A>T)
n.1329A>T
c.704A>T (p.Tyr235Phe)
c.1193A>T (p.Tyr398Phe)
c.790A>T (n.790A>T)
c.539A>T (p.Tyr180Phe)
c.319+2298A>T
 dbSNP gnomAD v2 gnomAD v4
11g.71435514T>CCA381701055DHCR7c.1289A>G (p.Tyr430Cys)
c.1115A>G (p.Tyr372Cys)
c.1340A>G (p.Tyr447Cys)
c.1325A>G (p.Tyr442Cys)
c.*52A>G (n.*52A>G)
n.1329A>G
c.704A>G (p.Tyr235Cys)
c.1193A>G (p.Tyr398Cys)
c.790A>G (n.790A>G)
c.539A>G (p.Tyr180Cys)
c.319+2298A>G
11g.71435514T>GCA381701057DHCR7c.1289A>C (p.Tyr430Ser)
c.1115A>C (p.Tyr372Ser)
c.1340A>C (p.Tyr447Ser)
c.1325A>C (p.Tyr442Ser)
c.*52A>C (n.*52A>C)
n.1329A>C
c.704A>C (p.Tyr235Ser)
c.1193A>C (p.Tyr398Ser)
c.790A>C (n.790A>C)
c.539A>C (p.Tyr180Ser)
c.319+2298A>C
11g.71435514T=CA1981486861DHCR7c.1289A= (p.Tyr430=)
c.1115A= (p.Tyr372=)
c.1340A= (p.Tyr447=)
c.1325A= (p.Tyr442=)
c.*52A= (n.*52A=)
n.1329A=
c.704A= (p.Tyr235=)
c.1193A= (p.Tyr398=)
c.790A= (n.790A=)
c.539A= (p.Tyr180=)
c.319+2298A=
11g.71435515A>CCA381701065DHCR7c.1288T>G (p.Tyr430Asp)
c.1114T>G (p.Tyr372Asp)
c.1339T>G (p.Tyr447Asp)
c.1324T>G (p.Tyr442Asp)
c.*51T>G (n.*51T>G)
n.1328T>G
c.703T>G (p.Tyr235Asp)
c.1192T>G (p.Tyr398Asp)
c.789T>G (n.789T>G)
c.538T>G (p.Tyr180Asp)
c.319+2297T>G
11g.71435515A>GCA381701059DHCR7c.1288T>C (p.Tyr430His)
c.1114T>C (p.Tyr372His)
c.1339T>C (p.Tyr447His)
c.1324T>C (p.Tyr442His)
c.*51T>C (n.*51T>C)
n.1328T>C
c.703T>C (p.Tyr235His)
c.1192T>C (p.Tyr398His)
c.789T>C (n.789T>C)
c.538T>C (p.Tyr180His)
c.319+2297T>C
11g.71435515A>TCA381701061DHCR7c.1288T>A (p.Tyr430Asn)
c.1114T>A (p.Tyr372Asn)
c.1339T>A (p.Tyr447Asn)
c.1324T>A (p.Tyr442Asn)
c.*51T>A (n.*51T>A)
n.1328T>A
c.703T>A (p.Tyr235Asn)
c.1192T>A (p.Tyr398Asn)
c.789T>A (n.789T>A)
c.538T>A (p.Tyr180Asn)
c.319+2297T>A
11g.71435516G>ACA475860944DHCR7c.1287C>T (p.Pro429=)
c.1113C>T (p.Pro371=)
c.1338C>T (p.Pro446=)
c.1323C>T (p.Pro441=)
c.*50C>T (n.*50C>T)
n.1327C>T
c.702C>T (p.Pro234=)
c.1191C>T (p.Pro397=)
c.788C>T (n.788C>T)
c.537C>T (p.Pro179=)
c.319+2296C>T
 ClinVar dbSNP COSMIC COSMIC
11g.71435516G>CCA475860945DHCR7c.1287C>G (p.Pro429=)
c.1113C>G (p.Pro371=)
c.1338C>G (p.Pro446=)
c.1323C>G (p.Pro441=)
c.*50C>G (n.*50C>G)
n.1327C>G
c.702C>G (p.Pro234=)
c.1191C>G (p.Pro397=)
c.788C>G (n.788C>G)
c.537C>G (p.Pro179=)
c.319+2296C>G
 gnomAD v4
11g.71435516G>TCA475860946DHCR7c.1287C>A (p.Pro429=)
c.1113C>A (p.Pro371=)
c.1338C>A (p.Pro446=)
c.1323C>A (p.Pro441=)
c.*50C>A (n.*50C>A)
n.1327C>A
c.702C>A (p.Pro234=)
c.1191C>A (p.Pro397=)
c.788C>A (n.788C>A)
c.537C>A (p.Pro179=)
c.319+2296C>A
 gnomAD v4
11g.71435518delCA2574909184DHCR7c.1287del (p.Tyr430ThrfsTer11)
c.1113del (p.Tyr372ThrfsTer11)
c.1338del (p.Tyr447ThrfsTer11)
c.1323del (p.Tyr442ThrfsTer11)
c.*50del (n.*50del)
n.1327del
c.702del (p.Tyr235ThrfsTer11)
c.1191del (p.Tyr398ThrfsTer11)
c.788del (n.788del)
c.537del (p.Tyr180ThrfsTer11)
c.319+2296del
11g.71435517G>ACA381701068DHCR7c.1286C>T (p.Pro429Leu)
c.1112C>T (p.Pro371Leu)
c.1337C>T (p.Pro446Leu)
c.1322C>T (p.Pro441Leu)
c.*49C>T (n.*49C>T)
n.1326C>T
c.701C>T (p.Pro234Leu)
c.1190C>T (p.Pro397Leu)
c.787C>T (n.787C>T)
c.536C>T (p.Pro179Leu)
c.319+2295C>T
 dbSNP gnomAD v4
11g.71435517G>CCA381701071DHCR7c.1286C>G (p.Pro429Arg)
c.1112C>G (p.Pro371Arg)
c.1337C>G (p.Pro446Arg)
c.1322C>G (p.Pro441Arg)
c.*49C>G (n.*49C>G)
n.1326C>G
c.701C>G (p.Pro234Arg)
c.1190C>G (p.Pro397Arg)
c.787C>G (n.787C>G)
c.536C>G (p.Pro179Arg)
c.319+2295C>G
 dbSNP gnomAD v3 gnomAD v4
11g.71435517G=CA1981486862DHCR7c.1286C= (p.Pro429=)
c.1112C= (p.Pro371=)
c.1337C= (p.Pro446=)
c.1322C= (p.Pro441=)
c.*49C= (n.*49C=)
n.1326C=
c.701C= (p.Pro234=)
c.1190C= (p.Pro397=)
c.787C= (n.787C=)
c.536C= (p.Pro179=)
c.319+2295C=
11g.71435517G>TCA381701074DHCR7c.1286C>A (p.Pro429His)
c.1112C>A (p.Pro371His)
c.1337C>A (p.Pro446His)
c.1322C>A (p.Pro441His)
c.*49C>A (n.*49C>A)
n.1326C>A
c.701C>A (p.Pro234His)
c.1190C>A (p.Pro397His)
c.787C>A (n.787C>A)
c.536C>A (p.Pro179His)
c.319+2295C>A
11g.71435518G>ACA381701077DHCR7c.1285C>T (p.Pro429Ser)
c.1111C>T (p.Pro371Ser)
c.1336C>T (p.Pro446Ser)
c.1321C>T (p.Pro441Ser)
c.*48C>T (n.*48C>T)
n.1325C>T
c.700C>T (p.Pro234Ser)
c.1189C>T (p.Pro397Ser)
c.786C>T (n.786C>T)
c.535C>T (p.Pro179Ser)
c.319+2294C>T
 gnomAD v4
11g.71435518G>CCA381701078DHCR7c.1285C>G (p.Pro429Ala)
c.1111C>G (p.Pro371Ala)
c.1336C>G (p.Pro446Ala)
c.1321C>G (p.Pro441Ala)
c.*48C>G (n.*48C>G)
n.1325C>G
c.700C>G (p.Pro234Ala)
c.1189C>G (p.Pro397Ala)
c.786C>G (n.786C>G)
c.535C>G (p.Pro179Ala)
c.319+2294C>G
11g.71435518G>TCA381701084DHCR7c.1285C>A (p.Pro429Thr)
c.1111C>A (p.Pro371Thr)
c.1336C>A (p.Pro446Thr)
c.1321C>A (p.Pro441Thr)
c.*48C>A (n.*48C>A)
n.1325C>A
c.700C>A (p.Pro234Thr)
c.1189C>A (p.Pro397Thr)
c.786C>A (n.786C>A)
c.535C>A (p.Pro179Thr)
c.319+2294C>A
 gnomAD v4
11g.71435519C>ACA475860948DHCR7c.1284G>T (p.Leu428=)
c.1110G>T (p.Leu370=)
c.1335G>T (p.Leu445=)
c.1320G>T (p.Leu440=)
c.*47G>T (n.*47G>T)
n.1324G>T
c.699G>T (p.Leu233=)
c.1188G>T (p.Leu396=)
c.785G>T (n.785G>T)
c.534G>T (p.Leu178=)
c.319+2293G>T
 gnomAD v4
11g.71435519C=CA1981486863DHCR7c.1284G= (p.Leu428=)
c.1110G= (p.Leu370=)
c.1335G= (p.Leu445=)
c.1320G= (p.Leu440=)
c.*47G= (n.*47G=)
n.1324G=
c.699G= (p.Leu233=)
c.1188G= (p.Leu396=)
c.785G= (n.785G=)
c.534G= (p.Leu178=)
c.319+2293G=
11g.71435519C>GCA475860949DHCR7c.1284G>C (p.Leu428=)
c.1110G>C (p.Leu370=)
c.1335G>C (p.Leu445=)
c.1320G>C (p.Leu440=)
c.*47G>C (n.*47G>C)
n.1324G>C
c.699G>C (p.Leu233=)
c.1188G>C (p.Leu396=)
c.785G>C (n.785G>C)
c.534G>C (p.Leu178=)
c.319+2293G>C
 ClinVar gnomAD v4
11g.71435519C>TCA6162270DHCR7c.1284G>A (p.Leu428=)
c.1110G>A (p.Leu370=)
c.1335G>A (p.Leu445=)
c.1320G>A (p.Leu440=)
c.*47G>A (n.*47G>A)
n.1324G>A
c.699G>A (p.Leu233=)
c.1188G>A (p.Leu396=)
c.785G>A (n.785G>A)
c.534G>A (p.Leu178=)
c.319+2293G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435520A>CCA381701088DHCR7c.1283T>G (p.Leu428Arg)
c.1109T>G (p.Leu370Arg)
c.1334T>G (p.Leu445Arg)
c.1319T>G (p.Leu440Arg)
c.*46T>G (n.*46T>G)
n.1323T>G
c.698T>G (p.Leu233Arg)
c.1187T>G (p.Leu396Arg)
c.784T>G (n.784T>G)
c.533T>G (p.Leu178Arg)
c.319+2292T>G
11g.71435520A>GCA381701091DHCR7c.1283T>C (p.Leu428Pro)
c.1109T>C (p.Leu370Pro)
c.1334T>C (p.Leu445Pro)
c.1319T>C (p.Leu440Pro)
c.*46T>C (n.*46T>C)
n.1323T>C
c.698T>C (p.Leu233Pro)
c.1187T>C (p.Leu396Pro)
c.784T>C (n.784T>C)
c.533T>C (p.Leu178Pro)
c.319+2292T>C
11g.71435520A>TCA381701094DHCR7c.1283T>A (p.Leu428Gln)
c.1109T>A (p.Leu370Gln)
c.1334T>A (p.Leu445Gln)
c.1319T>A (p.Leu440Gln)
c.*46T>A (n.*46T>A)
n.1323T>A
c.698T>A (p.Leu233Gln)
c.1187T>A (p.Leu396Gln)
c.784T>A (n.784T>A)
c.533T>A (p.Leu178Gln)
c.319+2292T>A
11g.71435521G>ACA475860951DHCR7c.1282C>T (p.Leu428=)
c.1108C>T (p.Leu370=)
c.1333C>T (p.Leu445=)
c.1318C>T (p.Leu440=)
c.*45C>T (n.*45C>T)
n.1322C>T
c.697C>T (p.Leu233=)
c.1186C>T (p.Leu396=)
c.783C>T (n.783C>T)
c.532C>T (p.Leu178=)
c.319+2291C>T
11g.71435521G>CCA381701098DHCR7c.1282C>G (p.Leu428Val)
c.1108C>G (p.Leu370Val)
c.1333C>G (p.Leu445Val)
c.1318C>G (p.Leu440Val)
c.*45C>G (n.*45C>G)
n.1322C>G
c.697C>G (p.Leu233Val)
c.1186C>G (p.Leu396Val)
c.783C>G (n.783C>G)
c.532C>G (p.Leu178Val)
c.319+2291C>G
 dbSNP
11g.71435521G=CA1981486864DHCR7c.1282C= (p.Leu428=)
c.1108C= (p.Leu370=)
c.1333C= (p.Leu445=)
c.1318C= (p.Leu440=)
c.*45C= (n.*45C=)
n.1322C=
c.697C= (p.Leu233=)
c.1186C= (p.Leu396=)
c.783C= (n.783C=)
c.532C= (p.Leu178=)
c.319+2291C=
11g.71435521G>TCA381701095DHCR7c.1282C>A (p.Leu428Met)
c.1108C>A (p.Leu370Met)
c.1333C>A (p.Leu445Met)
c.1318C>A (p.Leu440Met)
c.*45C>A (n.*45C>A)
n.1322C>A
c.697C>A (p.Leu233Met)
c.1186C>A (p.Leu396Met)
c.783C>A (n.783C>A)
c.532C>A (p.Leu178Met)
c.319+2291C>A
11g.71435522C>ACA475860952DHCR7c.1281G>T (p.Leu427=)
c.1107G>T (p.Leu369=)
c.1332G>T (p.Leu444=)
c.1317G>T (p.Leu439=)
c.*44G>T (n.*44G>T)
n.1321G>T
c.696G>T (p.Leu232=)
c.1185G>T (p.Leu395=)
c.782G>T (n.782G>T)
c.531G>T (p.Leu177=)
c.319+2290G>T
 gnomAD v4
11g.71435522C>GCA475860953DHCR7c.1281G>C (p.Leu427=)
c.1107G>C (p.Leu369=)
c.1332G>C (p.Leu444=)
c.1317G>C (p.Leu439=)
c.*44G>C (n.*44G>C)
n.1321G>C
c.696G>C (p.Leu232=)
c.1185G>C (p.Leu395=)
c.782G>C (n.782G>C)
c.531G>C (p.Leu177=)
c.319+2290G>C
 gnomAD v3 gnomAD v4
11g.71435522C>TCA475860954DHCR7c.1281G>A (p.Leu427=)
c.1107G>A (p.Leu369=)
c.1332G>A (p.Leu444=)
c.1317G>A (p.Leu439=)
c.*44G>A (n.*44G>A)
n.1321G>A
c.696G>A (p.Leu232=)
c.1185G>A (p.Leu395=)
c.782G>A (n.782G>A)
c.531G>A (p.Leu177=)
c.319+2290G>A
 gnomAD v4
11g.71435523A>CCA381701101DHCR7c.1280T>G (p.Leu427Arg)
c.1106T>G (p.Leu369Arg)
c.1331T>G (p.Leu444Arg)
c.1316T>G (p.Leu439Arg)
c.*43T>G (n.*43T>G)
n.1320T>G
c.695T>G (p.Leu232Arg)
c.1184T>G (p.Leu395Arg)
c.781T>G (n.781T>G)
c.530T>G (p.Leu177Arg)
c.319+2289T>G
11g.71435523A>GCA381701104DHCR7c.1280T>C (p.Leu427Pro)
c.1106T>C (p.Leu369Pro)
c.1331T>C (p.Leu444Pro)
c.1316T>C (p.Leu439Pro)
c.*43T>C (n.*43T>C)
n.1320T>C
c.695T>C (p.Leu232Pro)
c.1184T>C (p.Leu395Pro)
c.781T>C (n.781T>C)
c.530T>C (p.Leu177Pro)
c.319+2289T>C
11g.71435523A>TCA381701106DHCR7c.1280T>A (p.Leu427Gln)
c.1106T>A (p.Leu369Gln)
c.1331T>A (p.Leu444Gln)
c.1316T>A (p.Leu439Gln)
c.*43T>A (n.*43T>A)
n.1320T>A
c.695T>A (p.Leu232Gln)
c.1184T>A (p.Leu395Gln)
c.781T>A (n.781T>A)
c.530T>A (p.Leu177Gln)
c.319+2289T>A
11g.71435524G>ACA475860958DHCR7c.1279C>T (p.Leu427=)
c.1105C>T (p.Leu369=)
c.1330C>T (p.Leu444=)
c.1315C>T (p.Leu439=)
c.*42C>T (n.*42C>T)
n.1319C>T
c.694C>T (p.Leu232=)
c.1183C>T (p.Leu395=)
c.780C>T (n.780C>T)
c.529C>T (p.Leu177=)
c.319+2288C>T
11g.71435524G>CCA381701109DHCR7c.1279C>G (p.Leu427Val)
c.1105C>G (p.Leu369Val)
c.1330C>G (p.Leu444Val)
c.1315C>G (p.Leu439Val)
c.*42C>G (n.*42C>G)
n.1319C>G
c.694C>G (p.Leu232Val)
c.1183C>G (p.Leu395Val)
c.780C>G (n.780C>G)
c.529C>G (p.Leu177Val)
c.319+2288C>G
11g.71435524G>TCA381701113DHCR7c.1279C>A (p.Leu427Met)
c.1105C>A (p.Leu369Met)
c.1330C>A (p.Leu444Met)
c.1315C>A (p.Leu439Met)
c.*42C>A (n.*42C>A)
n.1319C>A
c.694C>A (p.Leu232Met)
c.1183C>A (p.Leu395Met)
c.780C>A (n.780C>A)
c.529C>A (p.Leu177Met)
c.319+2288C>A
 gnomAD v4
11g.71435525dupCA2838688352DHCR7c.1279dup (p.Leu427ProfsTer?)
c.1105dup (p.Leu369ProfsTer?)
c.1330dup (p.Leu444ProfsTer?)
c.1315dup (p.Leu439ProfsTer?)
c.*42dup (n.*42dup)
n.1319dup
c.694dup (p.Leu232ProfsTer?)
c.1183dup (p.Leu395ProfsTer?)
c.780dup (n.780dup)
c.529dup (p.Leu177ProfsTer?)
c.319+2288dup
11g.71435525G>ACA475860959DHCR7c.1278C>T (p.His426=)
c.1104C>T (p.His368=)
c.1329C>T (p.His443=)
c.1314C>T (p.His438=)
c.*41C>T (n.*41C>T)
n.1318C>T
c.693C>T (p.His231=)
c.1182C>T (p.His394=)
c.779C>T (n.779C>T)
c.528C>T (p.His176=)
c.319+2287C>T
 ClinVar dbSNP gnomAD v4
11g.71435525G>CCA381701116DHCR7c.1278C>G (p.His426Gln)
c.1104C>G (p.His368Gln)
c.1329C>G (p.His443Gln)
c.1314C>G (p.His438Gln)
c.*41C>G (n.*41C>G)
n.1318C>G
c.693C>G (p.His231Gln)
c.1182C>G (p.His394Gln)
c.779C>G (n.779C>G)
c.528C>G (p.His176Gln)
c.319+2287C>G
11g.71435525G=CA1981486865DHCR7c.1278C= (p.His426=)
c.1104C= (p.His368=)
c.1329C= (p.His443=)
c.1314C= (p.His438=)
c.*41C= (n.*41C=)
n.1318C=
c.693C= (p.His231=)
c.1182C= (p.His394=)
c.779C= (n.779C=)
c.528C= (p.His176=)
c.319+2287C=
11g.71435525G>TCA6162271DHCR7c.1278C>A (p.His426Gln)
c.1104C>A (p.His368Gln)
c.1329C>A (p.His443Gln)
c.1314C>A (p.His438Gln)
c.*41C>A (n.*41C>A)
n.1318C>A
c.693C>A (p.His231Gln)
c.1182C>A (p.His394Gln)
c.779C>A (n.779C>A)
c.528C>A (p.His176Gln)
c.319+2287C>A
 dbSNP ExAC
11g.71435526T>ACA381701120DHCR7c.1277A>T (p.His426Leu)
c.1103A>T (p.His368Leu)
c.1328A>T (p.His443Leu)
c.1313A>T (p.His438Leu)
c.*40A>T (n.*40A>T)
n.1317A>T
c.692A>T (p.His231Leu)
c.1181A>T (p.His394Leu)
c.778A>T (n.778A>T)
c.527A>T (p.His176Leu)
c.319+2286A>T
11g.71435526T>CCA381701122DHCR7c.1277A>G (p.His426Arg)
c.1103A>G (p.His368Arg)
c.1328A>G (p.His443Arg)
c.1313A>G (p.His438Arg)
c.*40A>G (n.*40A>G)
n.1317A>G
c.692A>G (p.His231Arg)
c.1181A>G (p.His394Arg)
c.778A>G (n.778A>G)
c.527A>G (p.His176Arg)
c.319+2286A>G
11g.71435526T>GCA381701125DHCR7c.1277A>C (p.His426Pro)
c.1103A>C (p.His368Pro)
c.1328A>C (p.His443Pro)
c.1313A>C (p.His438Pro)
c.*40A>C (n.*40A>C)
n.1317A>C
c.692A>C (p.His231Pro)
c.1181A>C (p.His394Pro)
c.778A>C (n.778A>C)
c.527A>C (p.His176Pro)
c.319+2286A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.71435526T=CA1981486866DHCR7c.1277A= (p.His426=)
c.1103A= (p.His368=)
c.1328A= (p.His443=)
c.1313A= (p.His438=)
c.*40A= (n.*40A=)
n.1317A=
c.692A= (p.His231=)
c.1181A= (p.His394=)
c.778A= (n.778A=)
c.527A= (p.His176=)
c.319+2286A=
11g.71435527G>ACA6162272DHCR7c.1276C>T (p.His426Tyr)
c.1102C>T (p.His368Tyr)
c.1327C>T (p.His443Tyr)
c.1312C>T (p.His438Tyr)
c.*39C>T (n.*39C>T)
n.1316C>T
c.691C>T (p.His231Tyr)
c.1180C>T (p.His394Tyr)
c.777C>T (n.777C>T)
c.526C>T (p.His176Tyr)
c.319+2285C>T
 dbSNP ExAC gnomAD v2
11g.71435527G>CCA381701130DHCR7c.1276C>G (p.His426Asp)
c.1102C>G (p.His368Asp)
c.1327C>G (p.His443Asp)
c.1312C>G (p.His438Asp)
c.*39C>G (n.*39C>G)
n.1316C>G
c.691C>G (p.His231Asp)
c.1180C>G (p.His394Asp)
c.777C>G (n.777C>G)
c.526C>G (p.His176Asp)
c.319+2285C>G
11g.71435527G=CA1981486867DHCR7c.1276C= (p.His426=)
c.1102C= (p.His368=)
c.1327C= (p.His443=)
c.1312C= (p.His438=)
c.*39C= (n.*39C=)
n.1316C=
c.691C= (p.His231=)
c.1180C= (p.His394=)
c.777C= (n.777C=)
c.526C= (p.His176=)
c.319+2285C=
11g.71435527G>TCA381701135DHCR7c.1276C>A (p.His426Asn)
c.1102C>A (p.His368Asn)
c.1327C>A (p.His443Asn)
c.1312C>A (p.His438Asn)
c.*39C>A (n.*39C>A)
n.1316C>A
c.691C>A (p.His231Asn)
c.1180C>A (p.His394Asn)
c.777C>A (n.777C>A)
c.526C>A (p.His176Asn)
c.319+2285C>A
11g.71435528dupCA2839231215DHCR7c.1276dup (p.His426ProfsTer?)
c.1102dup (p.His368ProfsTer?)
c.1327dup (p.His443ProfsTer?)
c.1312dup (p.His438ProfsTer?)
c.*39dup (n.*39dup)
n.1316dup
c.691dup (p.His231ProfsTer?)
c.1180dup (p.His394ProfsTer?)
c.777dup (n.777dup)
c.526dup (p.His176ProfsTer?)
c.319+2285dup
11g.71435528G>ACA475860962DHCR7c.1275C>T (p.Gly425=)
c.1101C>T (p.Gly367=)
c.1326C>T (p.Gly442=)
c.1311C>T (p.Gly437=)
c.*38C>T (n.*38C>T)
n.1315C>T
c.690C>T (p.Gly230=)
c.1179C>T (p.Gly393=)
c.776C>T (n.776C>T)
c.525C>T (p.Gly175=)
c.319+2284C>T
 gnomAD v4
11g.71435528G>CCA475860963DHCR7c.1275C>G (p.Gly425=)
c.1101C>G (p.Gly367=)
c.1326C>G (p.Gly442=)
c.1311C>G (p.Gly437=)
c.*38C>G (n.*38C>G)
n.1315C>G
c.690C>G (p.Gly230=)
c.1179C>G (p.Gly393=)
c.776C>G (n.776C>G)
c.525C>G (p.Gly175=)
c.319+2284C>G
11g.71435528G=CA1981486868DHCR7c.1275C= (p.Gly425=)
c.1101C= (p.Gly367=)
c.1326C= (p.Gly442=)
c.1311C= (p.Gly437=)
c.*38C= (n.*38C=)
n.1315C=
c.690C= (p.Gly230=)
c.1179C= (p.Gly393=)
c.776C= (n.776C=)
c.525C= (p.Gly175=)
c.319+2284C=
11g.71435528G>TCA475860964DHCR7c.1275C>A (p.Gly425=)
c.1101C>A (p.Gly367=)
c.1326C>A (p.Gly442=)
c.1311C>A (p.Gly437=)
c.*38C>A (n.*38C>A)
n.1315C>A
c.690C>A (p.Gly230=)
c.1179C>A (p.Gly393=)
c.776C>A (n.776C>A)
c.525C>A (p.Gly175=)
c.319+2284C>A
 dbSNP gnomAD v2 gnomAD v4
11g.71435529C>ACA381701139DHCR7c.1274G>T (p.Gly425Val)
c.1100G>T (p.Gly367Val)
c.1325G>T (p.Gly442Val)
c.1310G>T (p.Gly437Val)
c.*37G>T (n.*37G>T)
n.1314G>T
c.689G>T (p.Gly230Val)
c.1178G>T (p.Gly393Val)
c.775G>T (n.775G>T)
c.524G>T (p.Gly175Val)
c.319+2283G>T
11g.71435529C=CA1981486870DHCR7c.1274G= (p.Gly425=)
c.1100G= (p.Gly367=)
c.1325G= (p.Gly442=)
c.1310G= (p.Gly437=)
c.*37G= (n.*37G=)
n.1314G=
c.689G= (p.Gly230=)
c.1178G= (p.Gly393=)
c.775G= (n.775G=)
c.524G= (p.Gly175=)
c.319+2283G=
11g.71435529C>GCA381701143DHCR7c.1274G>C (p.Gly425Ala)
c.1100G>C (p.Gly367Ala)
c.1325G>C (p.Gly442Ala)
c.1310G>C (p.Gly437Ala)
c.*37G>C (n.*37G>C)
n.1314G>C
c.689G>C (p.Gly230Ala)
c.1178G>C (p.Gly393Ala)
c.775G>C (n.775G>C)
c.524G>C (p.Gly175Ala)
c.319+2283G>C
11g.71435529C>TCA381701142DHCR7c.1274G>A (p.Gly425Asp)
c.1100G>A (p.Gly367Asp)
c.1325G>A (p.Gly442Asp)
c.1310G>A (p.Gly437Asp)
c.*37G>A (n.*37G>A)
n.1314G>A
c.689G>A (p.Gly230Asp)
c.1178G>A (p.Gly393Asp)
c.775G>A (n.775G>A)
c.524G>A (p.Gly175Asp)
c.319+2283G>A
 dbSNP gnomAD v2 gnomAD v4
11g.71435529_71435531delinsCCGCA1981486869DHCR7c.1272_1274delinsCGG (p.Gly424=)
c.1098_1100delinsCGG (p.Gly366=)
c.1323_1325delinsCGG (p.Gly441=)
c.1308_1310delinsCGG (p.Gly436=)
c.*35_*37delinsCGG (n.*35_*37delinsCGG)
n.1312_1314delinsCGG
c.687_689delinsCGG (p.Gly229=)
c.1176_1178delinsCGG (p.Gly392=)
c.773_775delinsCGG (n.773_775delinsCGG)
c.522_524delinsCGG (p.Gly174=)
c.319+2281_319+2283delinsCGG
11g.71435530C>ACA381701145DHCR7c.1273G>T (p.Gly425Cys)
c.1099G>T (p.Gly367Cys)
c.1324G>T (p.Gly442Cys)
c.1309G>T (p.Gly437Cys)
c.*36G>T (n.*36G>T)
n.1313G>T
c.688G>T (p.Gly230Cys)
c.1177G>T (p.Gly393Cys)
c.774G>T (n.774G>T)
c.523G>T (p.Gly175Cys)
c.319+2282G>T
11g.71435530C=CA1981486871DHCR7c.1273G= (p.Gly425=)
c.1099G= (p.Gly367=)
c.1324G= (p.Gly442=)
c.1309G= (p.Gly437=)
c.*36G= (n.*36G=)
n.1313G=
c.688G= (p.Gly230=)
c.1177G= (p.Gly393=)
c.774G= (n.774G=)
c.523G= (p.Gly175=)
c.319+2282G=
11g.71435530C>GCA381701147DHCR7c.1273G>C (p.Gly425Arg)
c.1099G>C (p.Gly367Arg)
c.1324G>C (p.Gly442Arg)
c.1309G>C (p.Gly437Arg)
c.*36G>C (n.*36G>C)
n.1313G>C
c.688G>C (p.Gly230Arg)
c.1177G>C (p.Gly393Arg)
c.774G>C (n.774G>C)
c.523G>C (p.Gly175Arg)
c.319+2282G>C
11g.71435530C>TCA6162273DHCR7c.1273G>A (p.Gly425Ser)
c.1099G>A (p.Gly367Ser)
c.1324G>A (p.Gly442Ser)
c.1309G>A (p.Gly437Ser)
c.*36G>A (n.*36G>A)
n.1313G>A
c.688G>A (p.Gly230Ser)
c.1177G>A (p.Gly393Ser)
c.774G>A (n.774G>A)
c.523G>A (p.Gly175Ser)
c.319+2282G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435530_71435531delinsTCA224324057DHCR7c.1272_1273delinsA (p.Gly425AlafsTer16)
c.1098_1099delinsA (p.Gly367AlafsTer16)
c.1323_1324delinsA (p.Gly442AlafsTer16)
c.1308_1309delinsA (p.Gly437AlafsTer16)
c.*35_*36delinsA (n.*35_*36delinsA)
n.1312_1313delinsA
c.687_688delinsA (p.Gly230AlafsTer16)
c.1176_1177delinsA (p.Gly393AlafsTer16)
c.773_774delinsA (n.773_774delinsA)
c.522_523delinsA (p.Gly175AlafsTer16)
c.319+2281_319+2282delinsA
 dbSNP
11g.71435530_71435531delinsCGCA1981486872DHCR7c.1272_1273delinsCG (p.Gly424=)
c.1098_1099delinsCG (p.Gly366=)
c.1323_1324delinsCG (p.Gly441=)
c.1308_1309delinsCG (p.Gly436=)
c.*35_*36delinsCG (n.*35_*36delinsCG)
n.1312_1313delinsCG
c.687_688delinsCG (p.Gly229=)
c.1176_1177delinsCG (p.Gly392=)
c.773_774delinsCG (n.773_774delinsCG)
c.522_523delinsCG (p.Gly174=)
c.319+2281_319+2282delinsCG
11g.71435531delCA224324067DHCR7c.1272del (p.Gly425AlafsTer16)
c.1098del (p.Gly367AlafsTer16)
c.1323del (p.Gly442AlafsTer16)
c.1308del (p.Gly437AlafsTer16)
c.*35del (n.*35del)
n.1312del
c.687del (p.Gly230AlafsTer16)
c.1176del (p.Gly393AlafsTer16)
c.773del (n.773del)
c.522del (p.Gly175AlafsTer16)
c.319+2281del
 dbSNP gnomAD v3 gnomAD v4
11g.71435531G>ACA147233DHCR7c.1272C>T (p.Gly424=)
c.1098C>T (p.Gly366=)
c.1323C>T (p.Gly441=)
c.1308C>T (p.Gly436=)
c.*35C>T (n.*35C>T)
n.1312C>T
c.687C>T (p.Gly229=)
c.1176C>T (p.Gly392=)
c.773C>T (n.773C>T)
c.522C>T (p.Gly174=)
c.319+2281C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435531G>CCA475860971DHCR7c.1272C>G (p.Gly424=)
c.1098C>G (p.Gly366=)
c.1323C>G (p.Gly441=)
c.1308C>G (p.Gly436=)
c.*35C>G (n.*35C>G)
n.1312C>G
c.687C>G (p.Gly229=)
c.1176C>G (p.Gly392=)
c.773C>G (n.773C>G)
c.522C>G (p.Gly174=)
c.319+2281C>G
 dbSNP gnomAD v4
11g.71435531G=CA1630855225DHCR7c.1272C= (p.Gly424=)
c.1098C= (p.Gly366=)
c.1323C= (p.Gly441=)
c.1308C= (p.Gly436=)
c.*35C= (n.*35C=)
n.1312C=
c.687C= (p.Gly229=)
c.1176C= (p.Gly392=)
c.773C= (n.773C=)
c.522C= (p.Gly174=)
c.319+2281C=
11g.71435531G>TCA475860973DHCR7c.1272C>A (p.Gly424=)
c.1098C>A (p.Gly366=)
c.1323C>A (p.Gly441=)
c.1308C>A (p.Gly436=)
c.*35C>A (n.*35C>A)
n.1312C>A
c.687C>A (p.Gly229=)
c.1176C>A (p.Gly392=)
c.773C>A (n.773C>A)
c.522C>A (p.Gly174=)
c.319+2281C>A
11g.71435532C>ACA381701158DHCR7c.1271G>T (p.Gly424Val)
c.1097G>T (p.Gly366Val)
c.1322G>T (p.Gly441Val)
c.1307G>T (p.Gly436Val)
c.*34G>T (n.*34G>T)
n.1311G>T
c.686G>T (p.Gly229Val)
c.1175G>T (p.Gly392Val)
c.772G>T (n.772G>T)
c.521G>T (p.Gly174Val)
c.319+2280G>T
 gnomAD v4
11g.71435532C>GCA381701160DHCR7c.1271G>C (p.Gly424Ala)
c.1097G>C (p.Gly366Ala)
c.1322G>C (p.Gly441Ala)
c.1307G>C (p.Gly436Ala)
c.*34G>C (n.*34G>C)
n.1311G>C
c.686G>C (p.Gly229Ala)
c.1175G>C (p.Gly392Ala)
c.772G>C (n.772G>C)
c.521G>C (p.Gly174Ala)
c.319+2280G>C
 gnomAD v4
11g.71435532C>TCA381701163DHCR7c.1271G>A (p.Gly424Asp)
c.1097G>A (p.Gly366Asp)
c.1322G>A (p.Gly441Asp)
c.1307G>A (p.Gly436Asp)
c.*34G>A (n.*34G>A)
n.1311G>A
c.686G>A (p.Gly229Asp)
c.1175G>A (p.Gly392Asp)
c.772G>A (n.772G>A)
c.521G>A (p.Gly174Asp)
c.319+2280G>A
 gnomAD v4
11g.71435533C>ACA6162274DHCR7c.1270G>T (p.Gly424Cys)
c.1096G>T (p.Gly366Cys)
c.1321G>T (p.Gly441Cys)
c.1306G>T (p.Gly436Cys)
c.*33G>T (n.*33G>T)
n.1310G>T
c.685G>T (p.Gly229Cys)
c.1174G>T (p.Gly392Cys)
c.771G>T (n.771G>T)
c.520G>T (p.Gly174Cys)
c.319+2279G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435533C=CA1981486873DHCR7c.1270G= (p.Gly424=)
c.1096G= (p.Gly366=)
c.1321G= (p.Gly441=)
c.1306G= (p.Gly436=)
c.*33G= (n.*33G=)
n.1310G=
c.685G= (p.Gly229=)
c.1174G= (p.Gly392=)
c.771G= (n.771G=)
c.520G= (p.Gly174=)
c.319+2279G=
11g.71435533C>GCA381701170DHCR7c.1270G>C (p.Gly424Arg)
c.1096G>C (p.Gly366Arg)
c.1321G>C (p.Gly441Arg)
c.1306G>C (p.Gly436Arg)
c.*33G>C (n.*33G>C)
n.1310G>C
c.685G>C (p.Gly229Arg)
c.1174G>C (p.Gly392Arg)
c.771G>C (n.771G>C)
c.520G>C (p.Gly174Arg)
c.319+2279G>C
11g.71435533C>TCA248059DHCR7c.1270G>A (p.Gly424Ser)
c.1096G>A (p.Gly366Ser)
c.1321G>A (p.Gly441Ser)
c.1306G>A (p.Gly436Ser)
c.*33G>A (n.*33G>A)
n.1310G>A
c.685G>A (p.Gly229Ser)
c.1174G>A (p.Gly392Ser)
c.771G>A (n.771G>A)
c.520G>A (p.Gly174Ser)
c.319+2279G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71435534G>ACA6162275DHCR7c.1269C>T (p.Gly423=)
c.1095C>T (p.Gly365=)
c.1320C>T (p.Gly440=)
c.1305C>T (p.Gly435=)
c.*32C>T (n.*32C>T)
n.1309C>T
c.684C>T (p.Gly228=)
c.1173C>T (p.Gly391=)
c.770C>T (n.770C>T)
c.519C>T (p.Gly173=)
c.319+2278C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435534G>CCA475860977DHCR7c.1269C>G (p.Gly423=)
c.1095C>G (p.Gly365=)
c.1320C>G (p.Gly440=)
c.1305C>G (p.Gly435=)
c.*32C>G (n.*32C>G)
n.1309C>G
c.684C>G (p.Gly228=)
c.1173C>G (p.Gly391=)
c.770C>G (n.770C>G)
c.519C>G (p.Gly173=)
c.319+2278C>G
11g.71435534G=CA1981486874DHCR7c.1269C= (p.Gly423=)
c.1095C= (p.Gly365=)
c.1320C= (p.Gly440=)
c.1305C= (p.Gly435=)
c.*32C= (n.*32C=)
n.1309C=
c.684C= (p.Gly228=)
c.1173C= (p.Gly391=)
c.770C= (n.770C=)
c.519C= (p.Gly173=)
c.319+2278C=
11g.71435534G>TCA475860978DHCR7c.1269C>A (p.Gly423=)
c.1095C>A (p.Gly365=)
c.1320C>A (p.Gly440=)
c.1305C>A (p.Gly435=)
c.*32C>A (n.*32C>A)
n.1309C>A
c.684C>A (p.Gly228=)
c.1173C>A (p.Gly391=)
c.770C>A (n.770C>A)
c.519C>A (p.Gly173=)
c.319+2278C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.71435535C>ACA381701179DHCR7c.1268G>T (p.Gly423Val)
c.1094G>T (p.Gly365Val)
c.1319G>T (p.Gly440Val)
c.1304G>T (p.Gly435Val)
c.*31G>T (n.*31G>T)
n.1308G>T
c.683G>T (p.Gly228Val)
c.1172G>T (p.Gly391Val)
c.769G>T (n.769G>T)
c.518G>T (p.Gly173Val)
c.319+2277G>T
11g.71435535C>GCA381701180DHCR7c.1268G>C (p.Gly423Ala)
c.1094G>C (p.Gly365Ala)
c.1319G>C (p.Gly440Ala)
c.1304G>C (p.Gly435Ala)
c.*31G>C (n.*31G>C)
n.1308G>C
c.683G>C (p.Gly228Ala)
c.1172G>C (p.Gly391Ala)
c.769G>C (n.769G>C)
c.518G>C (p.Gly173Ala)
c.319+2277G>C
11g.71435535C>TCA381701176DHCR7c.1268G>A (p.Gly423Asp)
c.1094G>A (p.Gly365Asp)
c.1319G>A (p.Gly440Asp)
c.1304G>A (p.Gly435Asp)
c.*31G>A (n.*31G>A)
n.1308G>A
c.683G>A (p.Gly228Asp)
c.1172G>A (p.Gly391Asp)
c.769G>A (n.769G>A)
c.518G>A (p.Gly173Asp)
c.319+2277G>A
11g.71435536C>ACA381701189DHCR7c.1267G>T (p.Gly423Cys)
c.1093G>T (p.Gly365Cys)
c.1318G>T (p.Gly440Cys)
c.1303G>T (p.Gly435Cys)
c.*30G>T (n.*30G>T)
n.1307G>T
c.682G>T (p.Gly228Cys)
c.1171G>T (p.Gly391Cys)
c.768G>T (n.768G>T)
c.517G>T (p.Gly173Cys)
c.319+2276G>T
11g.71435536C=CA1981486875DHCR7c.1267G= (p.Gly423=)
c.1093G= (p.Gly365=)
c.1318G= (p.Gly440=)
c.1303G= (p.Gly435=)
c.*30G= (n.*30G=)
n.1307G=
c.682G= (p.Gly228=)
c.1171G= (p.Gly391=)
c.768G= (n.768G=)
c.517G= (p.Gly173=)
c.319+2276G=
11g.71435536C>GCA381701184DHCR7c.1267G>C (p.Gly423Arg)
c.1093G>C (p.Gly365Arg)
c.1318G>C (p.Gly440Arg)
c.1303G>C (p.Gly435Arg)
c.*30G>C (n.*30G>C)
n.1307G>C
c.682G>C (p.Gly228Arg)
c.1171G>C (p.Gly391Arg)
c.768G>C (n.768G>C)
c.517G>C (p.Gly173Arg)
c.319+2276G>C
11g.71435536C>TCA16619401DHCR7c.1267G>A (p.Gly423Ser)
c.1093G>A (p.Gly365Ser)
c.1318G>A (p.Gly440Ser)
c.1303G>A (p.Gly435Ser)
c.*30G>A (n.*30G>A)
n.1307G>A
c.682G>A (p.Gly228Ser)
c.1171G>A (p.Gly391Ser)
c.768G>A (n.768G>A)
c.517G>A (p.Gly173Ser)
c.319+2276G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71435538_71435539delCA2839231218DHCR7c.1266_1267del (p.Cys422TrpfsTer?)
c.1092_1093del (p.Cys364TrpfsTer?)
c.1317_1318del (p.Cys439TrpfsTer?)
c.1302_1303del (p.Cys434TrpfsTer?)
c.*29_*30del (n.*29_*30del)
n.1306_1307del
c.681_682del (p.Cys227TrpfsTer?)
c.1170_1171del (p.Cys390TrpfsTer?)
c.767_768del (n.767_768del)
c.516_517del (p.Cys172TrpfsTer?)
c.319+2275_319+2276del
11g.71435537A>CCA381701191DHCR7c.1266T>G (p.Cys422Trp)
c.1092T>G (p.Cys364Trp)
c.1317T>G (p.Cys439Trp)
c.1302T>G (p.Cys434Trp)
c.*29T>G (n.*29T>G)
n.1306T>G
c.681T>G (p.Cys227Trp)
c.1170T>G (p.Cys390Trp)
c.767T>G (n.767T>G)
c.516T>G (p.Cys172Trp)
c.319+2275T>G
11g.71435537A>GCA475860984DHCR7c.1266T>C (p.Cys422=)
c.1092T>C (p.Cys364=)
c.1317T>C (p.Cys439=)
c.1302T>C (p.Cys434=)
c.*29T>C (n.*29T>C)
n.1306T>C
c.681T>C (p.Cys227=)
c.1170T>C (p.Cys390=)
c.767T>C (n.767T>C)
c.516T>C (p.Cys172=)
c.319+2275T>C
 dbSNP
11g.71435537A>TCA381701194DHCR7c.1266T>A (p.Cys422Ter)
c.1092T>A (p.Cys364Ter)
c.1317T>A (p.Cys439Ter)
c.1302T>A (p.Cys434Ter)
c.*29T>A (n.*29T>A)
n.1306T>A
c.681T>A (p.Cys227Ter)
c.1170T>A (p.Cys390Ter)
c.767T>A (n.767T>A)
c.516T>A (p.Cys172Ter)
c.319+2275T>A
11g.71435538C>ACA381701197DHCR7c.1265G>T (p.Cys422Phe)
c.1091G>T (p.Cys364Phe)
c.1316G>T (p.Cys439Phe)
c.1301G>T (p.Cys434Phe)
c.*28G>T (n.*28G>T)
n.1305G>T
c.680G>T (p.Cys227Phe)
c.1169G>T (p.Cys390Phe)
c.766G>T (n.766G>T)
c.515G>T (p.Cys172Phe)
c.319+2274G>T
11g.71435538C>GCA381701200DHCR7c.1265G>C (p.Cys422Ser)
c.1091G>C (p.Cys364Ser)
c.1316G>C (p.Cys439Ser)
c.1301G>C (p.Cys434Ser)
c.*28G>C (n.*28G>C)
n.1305G>C
c.680G>C (p.Cys227Ser)
c.1169G>C (p.Cys390Ser)
c.766G>C (n.766G>C)
c.515G>C (p.Cys172Ser)
c.319+2274G>C
11g.71435538C>TCA381701201DHCR7c.1265G>A (p.Cys422Tyr)
c.1091G>A (p.Cys364Tyr)
c.1316G>A (p.Cys439Tyr)
c.1301G>A (p.Cys434Tyr)
c.*28G>A (n.*28G>A)
n.1305G>A
c.680G>A (p.Cys227Tyr)
c.1169G>A (p.Cys390Tyr)
c.766G>A (n.766G>A)
c.515G>A (p.Cys172Tyr)
c.319+2274G>A
11g.71435539A=CA1981486876DHCR7c.1264T= (p.Cys422=)
c.1090T= (p.Cys364=)
c.1315T= (p.Cys439=)
c.1300T= (p.Cys434=)
c.*27T= (n.*27T=)
n.1304T=
c.679T= (p.Cys227=)
c.1168T= (p.Cys390=)
c.765T= (n.765T=)
c.514T= (p.Cys172=)
c.319+2273T=
11g.71435539A>CCA381701202DHCR7c.1264T>G (p.Cys422Gly)
c.1090T>G (p.Cys364Gly)
c.1315T>G (p.Cys439Gly)
c.1300T>G (p.Cys434Gly)
c.*27T>G (n.*27T>G)
n.1304T>G
c.679T>G (p.Cys227Gly)
c.1168T>G (p.Cys390Gly)
c.765T>G (n.765T>G)
c.514T>G (p.Cys172Gly)
c.319+2273T>G
11g.71435539A>GCA6162276DHCR7c.1264T>C (p.Cys422Arg)
c.1090T>C (p.Cys364Arg)
c.1315T>C (p.Cys439Arg)
c.1300T>C (p.Cys434Arg)
c.*27T>C (n.*27T>C)
n.1304T>C
c.679T>C (p.Cys227Arg)
c.1168T>C (p.Cys390Arg)
c.765T>C (n.765T>C)
c.514T>C (p.Cys172Arg)
c.319+2273T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435539A>TCA381701208DHCR7c.1264T>A (p.Cys422Ser)
c.1090T>A (p.Cys364Ser)
c.1315T>A (p.Cys439Ser)
c.1300T>A (p.Cys434Ser)
c.*27T>A (n.*27T>A)
n.1304T>A
c.679T>A (p.Cys227Ser)
c.1168T>A (p.Cys390Ser)
c.765T>A (n.765T>A)
c.514T>A (p.Cys172Ser)
c.319+2273T>A
11g.71435548_71435559delCA2529363413DHCR7c.1253_1264del (p.Tyr418_Ala421del)
c.1079_1090del (p.Tyr360_Ala363del)
c.1304_1315del (p.Tyr435_Ala438del)
c.1289_1300del (p.Tyr430_Ala433del)
c.*16_*27del (n.*16_*27del)
n.1293_1304del
c.668_679del (p.Tyr223_Ala226del)
c.1157_1168del (p.Tyr386_Ala389del)
c.754_765del (n.754_765del)
c.503_514del (p.Tyr168_Ala171del)
c.319+2262_319+2273del
11g.71435540G>ACA475860988DHCR7c.1263C>T (p.Ala421=)
c.1089C>T (p.Ala363=)
c.1314C>T (p.Ala438=)
c.1299C>T (p.Ala433=)
c.*26C>T (n.*26C>T)
n.1303C>T
c.678C>T (p.Ala226=)
c.1167C>T (p.Ala389=)
c.764C>T (n.764C>T)
c.513C>T (p.Ala171=)
c.319+2272C>T
11g.71435540G>CCA475860990DHCR7c.1263C>G (p.Ala421=)
c.1089C>G (p.Ala363=)
c.1314C>G (p.Ala438=)
c.1299C>G (p.Ala433=)
c.*26C>G (n.*26C>G)
n.1303C>G
c.678C>G (p.Ala226=)
c.1167C>G (p.Ala389=)
c.764C>G (n.764C>G)
c.513C>G (p.Ala171=)
c.319+2272C>G
11g.71435540G>TCA475860986DHCR7c.1263C>A (p.Ala421=)
c.1089C>A (p.Ala363=)
c.1314C>A (p.Ala438=)
c.1299C>A (p.Ala433=)
c.*26C>A (n.*26C>A)
n.1303C>A
c.678C>A (p.Ala226=)
c.1167C>A (p.Ala389=)
c.764C>A (n.764C>A)
c.513C>A (p.Ala171=)
c.319+2272C>A
 gnomAD v4
11g.71435541G>ACA381701216DHCR7c.1262C>T (p.Ala421Val)
c.1088C>T (p.Ala363Val)
c.1313C>T (p.Ala438Val)
c.1298C>T (p.Ala433Val)
c.*25C>T (n.*25C>T)
n.1302C>T
c.677C>T (p.Ala226Val)
c.1166C>T (p.Ala389Val)
c.763C>T (n.763C>T)
c.512C>T (p.Ala171Val)
c.319+2271C>T
 gnomAD v4
11g.71435541G>CCA381701219DHCR7c.1262C>G (p.Ala421Gly)
c.1088C>G (p.Ala363Gly)
c.1313C>G (p.Ala438Gly)
c.1298C>G (p.Ala433Gly)
c.*25C>G (n.*25C>G)
n.1302C>G
c.677C>G (p.Ala226Gly)
c.1166C>G (p.Ala389Gly)
c.763C>G (n.763C>G)
c.512C>G (p.Ala171Gly)
c.319+2271C>G
11g.71435541G>TCA381701220DHCR7c.1262C>A (p.Ala421Asp)
c.1088C>A (p.Ala363Asp)
c.1313C>A (p.Ala438Asp)
c.1298C>A (p.Ala433Asp)
c.*25C>A (n.*25C>A)
n.1302C>A
c.677C>A (p.Ala226Asp)
c.1166C>A (p.Ala389Asp)
c.763C>A (n.763C>A)
c.512C>A (p.Ala171Asp)
c.319+2271C>A
 gnomAD v4
11g.71435542C>ACA381701227DHCR7c.1261G>T (p.Ala421Ser)
c.1087G>T (p.Ala363Ser)
c.1312G>T (p.Ala438Ser)
c.1297G>T (p.Ala433Ser)
c.*24G>T (n.*24G>T)
n.1301G>T
c.676G>T (p.Ala226Ser)
c.1165G>T (p.Ala389Ser)
c.762G>T (n.762G>T)
c.511G>T (p.Ala171Ser)
c.319+2270G>T
11g.71435542C>GCA381701223DHCR7c.1261G>C (p.Ala421Pro)
c.1087G>C (p.Ala363Pro)
c.1312G>C (p.Ala438Pro)
c.1297G>C (p.Ala433Pro)
c.*24G>C (n.*24G>C)
n.1301G>C
c.676G>C (p.Ala226Pro)
c.1165G>C (p.Ala389Pro)
c.762G>C (n.762G>C)
c.511G>C (p.Ala171Pro)
c.319+2270G>C
11g.71435542C>TCA381701225DHCR7c.1261G>A (p.Ala421Thr)
c.1087G>A (p.Ala363Thr)
c.1312G>A (p.Ala438Thr)
c.1297G>A (p.Ala433Thr)
c.*24G>A (n.*24G>A)
n.1301G>A
c.676G>A (p.Ala226Thr)
c.1165G>A (p.Ala389Thr)
c.762G>A (n.762G>A)
c.511G>A (p.Ala171Thr)
c.319+2270G>A
11g.71435543C>ACA475860992DHCR7c.1260G>T (p.Leu420=)
c.1086G>T (p.Leu362=)
c.1311G>T (p.Leu437=)
c.1296G>T (p.Leu432=)
c.*23G>T (n.*23G>T)
n.1300G>T
c.675G>T (p.Leu225=)
c.1164G>T (p.Leu388=)
c.761G>T (n.761G>T)
c.510G>T (p.Leu170=)
c.319+2269G>T
 COSMIC COSMIC
11g.71435543C=CA1981486877DHCR7c.1260G= (p.Leu420=)
c.1086G= (p.Leu362=)
c.1311G= (p.Leu437=)
c.1296G= (p.Leu432=)
c.*23G= (n.*23G=)
n.1300G=
c.675G= (p.Leu225=)
c.1164G= (p.Leu388=)
c.761G= (n.761G=)
c.510G= (p.Leu170=)
c.319+2269G=
11g.71435543C>GCA475860991DHCR7c.1260G>C (p.Leu420=)
c.1086G>C (p.Leu362=)
c.1311G>C (p.Leu437=)
c.1296G>C (p.Leu432=)
c.*23G>C (n.*23G>C)
n.1300G>C
c.675G>C (p.Leu225=)
c.1164G>C (p.Leu388=)
c.761G>C (n.761G>C)
c.510G>C (p.Leu170=)
c.319+2269G>C
11g.71435543C>TCA6162277DHCR7c.1260G>A (p.Leu420=)
c.1086G>A (p.Leu362=)
c.1311G>A (p.Leu437=)
c.1296G>A (p.Leu432=)
c.*23G>A (n.*23G>A)
n.1300G>A
c.675G>A (p.Leu225=)
c.1164G>A (p.Leu388=)
c.761G>A (n.761G>A)
c.510G>A (p.Leu170=)
c.319+2269G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435544A>CCA381701231DHCR7c.1259T>G (p.Leu420Arg)
c.1085T>G (p.Leu362Arg)
c.1310T>G (p.Leu437Arg)
c.1295T>G (p.Leu432Arg)
c.*22T>G (n.*22T>G)
n.1299T>G
c.674T>G (p.Leu225Arg)
c.1163T>G (p.Leu388Arg)
c.760T>G (n.760T>G)
c.509T>G (p.Leu170Arg)
c.319+2268T>G
11g.71435544A>GCA381701237DHCR7c.1259T>C (p.Leu420Pro)
c.1085T>C (p.Leu362Pro)
c.1310T>C (p.Leu437Pro)
c.1295T>C (p.Leu432Pro)
c.*22T>C (n.*22T>C)
n.1299T>C
c.674T>C (p.Leu225Pro)
c.1163T>C (p.Leu388Pro)
c.760T>C (n.760T>C)
c.509T>C (p.Leu170Pro)
c.319+2268T>C
 gnomAD v4
11g.71435544A>TCA381701239DHCR7c.1259T>A (p.Leu420Gln)
c.1085T>A (p.Leu362Gln)
c.1310T>A (p.Leu437Gln)
c.1295T>A (p.Leu432Gln)
c.*22T>A (n.*22T>A)
n.1299T>A
c.674T>A (p.Leu225Gln)
c.1163T>A (p.Leu388Gln)
c.760T>A (n.760T>A)
c.509T>A (p.Leu170Gln)
c.319+2268T>A
11g.71435545G>ACA475860993DHCR7c.1258C>T (p.Leu420=)
c.1084C>T (p.Leu362=)
c.1309C>T (p.Leu437=)
c.1294C>T (p.Leu432=)
c.*21C>T (n.*21C>T)
n.1298C>T
c.673C>T (p.Leu225=)
c.1162C>T (p.Leu388=)
c.759C>T (n.759C>T)
c.508C>T (p.Leu170=)
c.319+2267C>T
11g.71435545G>CCA381701242DHCR7c.1258C>G (p.Leu420Val)
c.1084C>G (p.Leu362Val)
c.1309C>G (p.Leu437Val)
c.1294C>G (p.Leu432Val)
c.*21C>G (n.*21C>G)
n.1298C>G
c.673C>G (p.Leu225Val)
c.1162C>G (p.Leu388Val)
c.759C>G (n.759C>G)
c.508C>G (p.Leu170Val)
c.319+2267C>G
11g.71435545G>TCA381701243DHCR7c.1258C>A (p.Leu420Met)
c.1084C>A (p.Leu362Met)
c.1309C>A (p.Leu437Met)
c.1294C>A (p.Leu432Met)
c.*21C>A (n.*21C>A)
n.1298C>A
c.673C>A (p.Leu225Met)
c.1162C>A (p.Leu388Met)
c.759C>A (n.759C>A)
c.508C>A (p.Leu170Met)
c.319+2267C>A
11g.71435546G>ACA475860994DHCR7c.1257C>T (p.Cys419=)
c.1083C>T (p.Cys361=)
c.1308C>T (p.Cys436=)
c.1293C>T (p.Cys431=)
c.*20C>T (n.*20C>T)
n.1297C>T
c.672C>T (p.Cys224=)
c.1161C>T (p.Cys387=)
c.758C>T (n.758C>T)
c.507C>T (p.Cys169=)
c.319+2266C>T
11g.71435546G>CCA381701245DHCR7c.1257C>G (p.Cys419Trp)
c.1083C>G (p.Cys361Trp)
c.1308C>G (p.Cys436Trp)
c.1293C>G (p.Cys431Trp)
c.*20C>G (n.*20C>G)
n.1297C>G
c.672C>G (p.Cys224Trp)
c.1161C>G (p.Cys387Trp)
c.758C>G (n.758C>G)
c.507C>G (p.Cys169Trp)
c.319+2266C>G
11g.71435546G>TCA381701246DHCR7c.1257C>A (p.Cys419Ter)
c.1083C>A (p.Cys361Ter)
c.1308C>A (p.Cys436Ter)
c.1293C>A (p.Cys431Ter)
c.*20C>A (n.*20C>A)
n.1297C>A
c.672C>A (p.Cys224Ter)
c.1161C>A (p.Cys387Ter)
c.758C>A (n.758C>A)
c.507C>A (p.Cys169Ter)
c.319+2266C>A
11g.71435547C>ACA381701249DHCR7c.1256G>T (p.Cys419Phe)
c.1082G>T (p.Cys361Phe)
c.1307G>T (p.Cys436Phe)
c.1292G>T (p.Cys431Phe)
c.*19G>T (n.*19G>T)
n.1296G>T
c.671G>T (p.Cys224Phe)
c.1160G>T (p.Cys387Phe)
c.757G>T (n.757G>T)
c.506G>T (p.Cys169Phe)
c.319+2265G>T
 gnomAD v4
11g.71435547C=CA1981486878DHCR7c.1256G= (p.Cys419=)
c.1082G= (p.Cys361=)
c.1307G= (p.Cys436=)
c.1292G= (p.Cys431=)
c.*19G= (n.*19G=)
n.1296G=
c.671G= (p.Cys224=)
c.1160G= (p.Cys387=)
c.757G= (n.757G=)
c.506G= (p.Cys169=)
c.319+2265G=
11g.71435547C>GCA381701250DHCR7c.1256G>C (p.Cys419Ser)
c.1082G>C (p.Cys361Ser)
c.1307G>C (p.Cys436Ser)
c.1292G>C (p.Cys431Ser)
c.*19G>C (n.*19G>C)
n.1296G>C
c.671G>C (p.Cys224Ser)
c.1160G>C (p.Cys387Ser)
c.757G>C (n.757G>C)
c.506G>C (p.Cys169Ser)
c.319+2265G>C
11g.71435547C>TCA381701252DHCR7c.1256G>A (p.Cys419Tyr)
c.1082G>A (p.Cys361Tyr)
c.1307G>A (p.Cys436Tyr)
c.1292G>A (p.Cys431Tyr)
c.*19G>A (n.*19G>A)
n.1296G>A
c.671G>A (p.Cys224Tyr)
c.1160G>A (p.Cys387Tyr)
c.757G>A (n.757G>A)
c.506G>A (p.Cys169Tyr)
c.319+2265G>A
 dbSNP gnomAD v4
11g.71435548A=CA1981486879DHCR7c.1255T= (p.Cys419=)
c.1081T= (p.Cys361=)
c.1306T= (p.Cys436=)
c.1291T= (p.Cys431=)
c.*18T= (n.*18T=)
n.1295T=
c.670T= (p.Cys224=)
c.1159T= (p.Cys387=)
c.756T= (n.756T=)
c.505T= (p.Cys169=)
c.319+2264T=
11g.71435548A>CCA381701256DHCR7c.1255T>G (p.Cys419Gly)
c.1081T>G (p.Cys361Gly)
c.1306T>G (p.Cys436Gly)
c.1291T>G (p.Cys431Gly)
c.*18T>G (n.*18T>G)
n.1295T>G
c.670T>G (p.Cys224Gly)
c.1159T>G (p.Cys387Gly)
c.756T>G (n.756T>G)
c.505T>G (p.Cys169Gly)
c.319+2264T>G
11g.71435548A>GCA381701255DHCR7c.1255T>C (p.Cys419Arg)
c.1081T>C (p.Cys361Arg)
c.1306T>C (p.Cys436Arg)
c.1291T>C (p.Cys431Arg)
c.*18T>C (n.*18T>C)
n.1295T>C
c.670T>C (p.Cys224Arg)
c.1159T>C (p.Cys387Arg)
c.756T>C (n.756T>C)
c.505T>C (p.Cys169Arg)
c.319+2264T>C
 gnomAD v4
11g.71435548A>TCA381701254DHCR7c.1255T>A (p.Cys419Ser)
c.1081T>A (p.Cys361Ser)
c.1306T>A (p.Cys436Ser)
c.1291T>A (p.Cys431Ser)
c.*18T>A (n.*18T>A)
n.1295T>A
c.670T>A (p.Cys224Ser)
c.1159T>A (p.Cys387Ser)
c.756T>A (n.756T>A)
c.505T>A (p.Cys169Ser)
c.319+2264T>A
 dbSNP gnomAD v4

Number of alleles fetched