UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71435458_71435461delinsGCTC | CA1981486830 | DHCR7 | c.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 | |
| 11 | g.71435459_71435461delinsG | CA915948242 | DHCR7 | c.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 |
| 11 | g.71435461C>A | CA381700725 | DHCR7 | c.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 |
| 11 | g.71435461C= | CA1981486831 | DHCR7 | c.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= | |
| 11 | g.71435461C>G | CA381700721 | DHCR7 | c.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 |
| 11 | g.71435461C>T | CA118513 | DHCR7 | c.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 |
| 11 | g.71435462G>A | CA147236 | DHCR7 | c.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 |
| 11 | g.71435462G>C | CA6162256 | DHCR7 | c.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 |
| 11 | g.71435462G= | CA1981486832 | DHCR7 | c.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= | |
| 11 | g.71435462G>T | CA381700731 | DHCR7 | c.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 | |
| 11 | g.71435463T>A | CA381700733 | DHCR7 | c.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 | |
| 11 | g.71435463T>C | CA381700735 | DHCR7 | c.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 | |
| 11 | g.71435463T>G | CA381700745 | DHCR7 | c.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 | |
| 11 | g.71435464C>A | CA381700749 | DHCR7 | c.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 |
| 11 | g.71435464C= | CA1981486833 | DHCR7 | c.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= | |
| 11 | g.71435464C>G | CA381700751 | DHCR7 | c.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 |
| 11 | g.71435464C>T | CA381700753 | DHCR7 | c.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 |
| 11 | g.71435466del | CA2614857183 | DHCR7 | c.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 |
| 11 | g.71435465C>A | CA475565968 | DHCR7 | c.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 | |
| 11 | g.71435465C= | CA1981486834 | DHCR7 | c.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= | |
| 11 | g.71435465C>G | CA224323937 | DHCR7 | c.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 |
| 11 | g.71435465C>T | CA475565970 | DHCR7 | c.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 |
| 11 | g.71435466C>A | CA381700761 | DHCR7 | c.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 | |
| 11 | g.71435466C= | CA1981486835 | DHCR7 | c.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= | |
| 11 | g.71435466C>G | CA381700763 | DHCR7 | c.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 |
| 11 | g.71435466C>T | CA6162258 | DHCR7 | c.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 |
| 11 | g.71435467G>A | CA6162259 | DHCR7 | c.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 |
| 11 | g.71435467G>C | CA381700772 | DHCR7 | c.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 | |
| 11 | g.71435467G= | CA1981486836 | DHCR7 | c.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= | |
| 11 | g.71435467G>T | CA475565979 | DHCR7 | c.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 | |
| 11 | g.71435469_71435471dup | CA6162257 | DHCR7 | c.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 |
| 11 | g.71435468G>A | CA475565981 | DHCR7 | c.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 | |
| 11 | g.71435468G>C | CA475565982 | DHCR7 | c.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 | |
| 11 | g.71435468G>T | CA475565983 | DHCR7 | c.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 | |
| 11 | g.71435469A>C | CA381700778 | DHCR7 | c.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 | |
| 11 | g.71435469A>G | CA381700781 | DHCR7 | c.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 | |
| 11 | g.71435469A>T | CA381700784 | DHCR7 | c.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 | |
| 11 | g.71435470G>A | CA381700787 | DHCR7 | c.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 |
| 11 | g.71435470G>C | CA381700790 | DHCR7 | c.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 |
| 11 | g.71435470G= | CA1981486837 | DHCR7 | c.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= | |
| 11 | g.71435470G>T | CA381700800 | DHCR7 | c.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 | |
| 11 | g.71435471G>A | CA475565986 | DHCR7 | c.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 | |
| 11 | g.71435471G>C | CA381700805 | DHCR7 | c.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 | |
| 11 | g.71435471G>T | CA381700803 | DHCR7 | c.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 | |
| 11 | g.71435472C>A | CA381700809 | DHCR7 | c.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 | |
| 11 | g.71435472C>G | CA381700811 | DHCR7 | c.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 | |
| 11 | g.71435472C>T | CA381700814 | DHCR7 | c.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 |
| 11 | g.71435473A>C | CA381700816 | DHCR7 | c.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 | |
| 11 | g.71435473A>G | CA381700817 | DHCR7 | c.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 | |
| 11 | g.71435473A>T | CA381700820 | DHCR7 | c.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 |