WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71435495_71435510delinsCATGTAGATGATGTAG | CA1981486849 | DHCR7 | c.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 | |
| 11 | g.71435499_71435504del | CA679810496 | DHCR7 | c.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 |
| 11 | g.71435497_71435511del | CA679810499 | DHCR7 | c.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 |
| 11 | g.71435504G>A | CA475860935 | DHCR7 | c.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 |
| 11 | g.71435504G>C | CA381700991 | DHCR7 | c.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 | |
| 11 | g.71435504G= | CA1981486854 | DHCR7 | c.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= | |
| 11 | g.71435504G>T | CA475860936 | DHCR7 | c.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 | |
| 11 | g.71435505A>C | CA381700995 | DHCR7 | c.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 | |
| 11 | g.71435505A>G | CA381700997 | DHCR7 | c.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 | |
| 11 | g.71435505A>T | CA381701000 | DHCR7 | c.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 | |
| 11 | g.71435506T>A | CA381701002 | DHCR7 | c.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 | |
| 11 | g.71435506T>C | CA381701004 | DHCR7 | c.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 |
| 11 | g.71435506T>G | CA381701006 | DHCR7 | c.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 | |
| 11 | g.71435506T= | CA1981486855 | DHCR7 | c.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= | |
| 11 | g.71435507G>A | CA475860938 | DHCR7 | c.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 |
| 11 | g.71435507G>C | CA381701008 | DHCR7 | c.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 | |
| 11 | g.71435507G>T | CA381701011 | DHCR7 | c.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 |
| 11 | g.71435508T>A | CA381701014 | DHCR7 | c.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 |
| 11 | g.71435508T>C | CA381701018 | DHCR7 | c.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 |
| 11 | g.71435508T>G | CA381701016 | DHCR7 | c.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 |
| 11 | g.71435508T= | CA1981486856 | DHCR7 | c.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= | |
| 11 | g.71435509A= | CA1981486857 | DHCR7 | c.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= | |
| 11 | g.71435509A>C | CA381701022 | DHCR7 | c.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 |
| 11 | g.71435509A>G | CA6162267 | DHCR7 | c.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 |
| 11 | g.71435509A>T | CA381701023 | DHCR7 | c.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 | |
| 11 | g.71435510G>A | CA6162268 | DHCR7 | c.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 |
| 11 | g.71435510G>C | CA381701030 | DHCR7 | c.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 |
| 11 | g.71435510G= | CA1981486858 | DHCR7 | c.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= | |
| 11 | g.71435510G>T | CA381701027 | DHCR7 | c.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 |
| 11 | g.71435511A>C | CA381701033 | DHCR7 | c.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 | |
| 11 | g.71435511A>G | CA381701035 | DHCR7 | c.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 | |
| 11 | g.71435511A>T | CA381701038 | DHCR7 | c.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 |
| 11 | g.71435512A= | CA1981486859 | DHCR7 | c.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= | |
| 11 | g.71435512A>C | CA381701039 | DHCR7 | c.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 | |
| 11 | g.71435512A>G | CA381701042 | DHCR7 | c.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 |
| 11 | g.71435512A>T | CA381701046 | DHCR7 | c.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 | |
| 11 | g.71435513G>A | CA475860942 | DHCR7 | c.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 |
| 11 | g.71435513G>C | CA6162269 | DHCR7 | c.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 |
| 11 | g.71435513G= | CA1981486860 | DHCR7 | c.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= | |
| 11 | g.71435513G>T | CA381701050 | DHCR7 | c.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 | |
| 11 | g.71435514T>A | CA381701053 | DHCR7 | c.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 |
| 11 | g.71435514T>C | CA381701055 | DHCR7 | c.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 | |
| 11 | g.71435514T>G | CA381701057 | DHCR7 | c.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 | |
| 11 | g.71435514T= | CA1981486861 | DHCR7 | c.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= | |
| 11 | g.71435515A>C | CA381701065 | DHCR7 | c.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 | |
| 11 | g.71435515A>G | CA381701059 | DHCR7 | c.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 | |
| 11 | g.71435515A>T | CA381701061 | DHCR7 | c.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 | |
| 11 | g.71435516G>A | CA475860944 | DHCR7 | c.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 |
| 11 | g.71435516G>C | CA475860945 | DHCR7 | c.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 |
| 11 | g.71435516G>T | CA475860946 | DHCR7 | c.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 |