Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.71435401_71435416dup | CA6162234 | DHCR7 | c.1393_1408dup (p.Leu470ArgfsTer?) c.1219_1234dup (p.Leu412ArgfsTer?) c.1444_1459dup (p.Leu487ArgfsTer?) c.1429_1444dup (p.Leu482ArgfsTer?) c.*156_*171dup (n.*156_*171dup) n.1433_1448dup c.808_823dup (p.Leu275ArgfsTer?) c.1297_1312dup (p.Leu438ArgfsTer?) c.894_909dup (n.894_909dup) c.611+32_611+47dup (n.611+32_611+47dup) c.319+2402_319+2417dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71435407C>A | CA381700500 | DHCR7 | c.1396G>T (p.Val466Leu) c.1222G>T (p.Val408Leu) c.1447G>T (p.Val483Leu) c.1432G>T (p.Val478Leu) c.*159G>T (n.*159G>T) n.1436G>T c.811G>T (p.Val271Leu) c.1300G>T (p.Val434Leu) c.897G>T (n.897G>T) c.611+35G>T (n.611+35G>T) c.319+2405G>T | |
11 | g.71435407C= | CA1981486792 | DHCR7 | c.1396G= (p.Val466=) c.1222G= (p.Val408=) c.1447G= (p.Val483=) c.1432G= (p.Val478=) c.*159G= (n.*159G=) n.1436G= c.811G= (p.Val271=) c.1300G= (p.Val434=) c.897G= (n.897G=) c.611+35G= (n.611+35G=) c.319+2405G= | |
11 | g.71435407C>G | CA381700498 | DHCR7 | c.1396G>C (p.Val466Leu) c.1222G>C (p.Val408Leu) c.1447G>C (p.Val483Leu) c.1432G>C (p.Val478Leu) c.*159G>C (n.*159G>C) n.1436G>C c.811G>C (p.Val271Leu) c.1300G>C (p.Val434Leu) c.897G>C (n.897G>C) c.611+35G>C (n.611+35G>C) c.319+2405G>C | |
11 | g.71435407C>T | CA6162239 | DHCR7 | c.1396G>A (p.Val466Met) c.1222G>A (p.Val408Met) c.1447G>A (p.Val483Met) c.1432G>A (p.Val478Met) c.*159G>A (n.*159G>A) n.1436G>A c.811G>A (p.Val271Met) c.1300G>A (p.Val434Met) c.897G>A (n.897G>A) c.611+35G>A (n.611+35G>A) c.319+2405G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.71435408T>A | CA475565653 | DHCR7 | c.1395A>T (p.Ala465=) c.1221A>T (p.Ala407=) c.1446A>T (p.Ala482=) c.1431A>T (p.Ala477=) c.*158A>T (n.*158A>T) n.1435A>T c.810A>T (p.Ala270=) c.1299A>T (p.Ala433=) c.896A>T (n.896A>T) c.611+34A>T (n.611+34A>T) c.319+2404A>T | ClinVar |
11 | g.71435408T>C | CA475565655 | DHCR7 | c.1395A>G (p.Ala465=) c.1221A>G (p.Ala407=) c.1446A>G (p.Ala482=) c.1431A>G (p.Ala477=) c.*158A>G (n.*158A>G) n.1435A>G c.810A>G (p.Ala270=) c.1299A>G (p.Ala433=) c.896A>G (n.896A>G) c.611+34A>G (n.611+34A>G) c.319+2404A>G | |
11 | g.71435408T>G | CA475565658 | DHCR7 | c.1395A>C (p.Ala465=) c.1221A>C (p.Ala407=) c.1446A>C (p.Ala482=) c.1431A>C (p.Ala477=) c.*158A>C (n.*158A>C) n.1435A>C c.810A>C (p.Ala270=) c.1299A>C (p.Ala433=) c.896A>C (n.896A>C) c.611+34A>C (n.611+34A>C) c.319+2404A>C | |
11 | g.71435409G>A | CA381700501 | DHCR7 | c.1394C>T (p.Ala465Val) c.1220C>T (p.Ala407Val) c.1445C>T (p.Ala482Val) c.1430C>T (p.Ala477Val) c.*157C>T (n.*157C>T) n.1434C>T c.809C>T (p.Ala270Val) c.1298C>T (p.Ala433Val) c.895C>T (n.895C>T) c.611+33C>T (n.611+33C>T) c.319+2403C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435409G>C | CA381700502 | DHCR7 | c.1394C>G (p.Ala465Gly) c.1220C>G (p.Ala407Gly) c.1445C>G (p.Ala482Gly) c.1430C>G (p.Ala477Gly) c.*157C>G (n.*157C>G) n.1434C>G c.809C>G (p.Ala270Gly) c.1298C>G (p.Ala433Gly) c.895C>G (n.895C>G) c.611+33C>G (n.611+33C>G) c.319+2403C>G | |
11 | g.71435409G= | CA1981486793 | DHCR7 | c.1394C= (p.Ala465=) c.1220C= (p.Ala407=) c.1445C= (p.Ala482=) c.1430C= (p.Ala477=) c.*157C= (n.*157C=) n.1434C= c.809C= (p.Ala270=) c.1298C= (p.Ala433=) c.895C= (n.895C=) c.611+33C= (n.611+33C=) c.319+2403C= | |
11 | g.71435409G>T | CA381700503 | DHCR7 | c.1394C>A (p.Ala465Glu) c.1220C>A (p.Ala407Glu) c.1445C>A (p.Ala482Glu) c.1430C>A (p.Ala477Glu) c.*157C>A (n.*157C>A) n.1434C>A c.809C>A (p.Ala270Glu) c.1298C>A (p.Ala433Glu) c.895C>A (n.895C>A) c.611+33C>A (n.611+33C>A) c.319+2403C>A | gnomAD v4 |
11 | g.71435410C>A | CA381700504 | DHCR7 | c.1393G>T (p.Ala465Ser) c.1219G>T (p.Ala407Ser) c.1444G>T (p.Ala482Ser) c.1429G>T (p.Ala477Ser) c.*156G>T (n.*156G>T) n.1433G>T c.808G>T (p.Ala270Ser) c.1297G>T (p.Ala433Ser) c.894G>T (n.894G>T) c.611+32G>T (n.611+32G>T) c.319+2402G>T | ClinVar gnomAD v4 COSMIC COSMIC |
11 | g.71435410C= | CA1981486794 | DHCR7 | c.1393G= (p.Ala465=) c.1219G= (p.Ala407=) c.1444G= (p.Ala482=) c.1429G= (p.Ala477=) c.*156G= (n.*156G=) n.1433G= c.808G= (p.Ala270=) c.1297G= (p.Ala433=) c.894G= (n.894G=) c.611+32G= (n.611+32G=) c.319+2402G= | |
11 | g.71435410C>G | CA381700505 | DHCR7 | c.1393G>C (p.Ala465Pro) c.1219G>C (p.Ala407Pro) c.1444G>C (p.Ala482Pro) c.1429G>C (p.Ala477Pro) c.*156G>C (n.*156G>C) n.1433G>C c.808G>C (p.Ala270Pro) c.1297G>C (p.Ala433Pro) c.894G>C (n.894G>C) c.611+32G>C (n.611+32G>C) c.319+2402G>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71435410C>T | CA381700506 | DHCR7 | c.1393G>A (p.Ala465Thr) c.1219G>A (p.Ala407Thr) c.1444G>A (p.Ala482Thr) c.1429G>A (p.Ala477Thr) c.*156G>A (n.*156G>A) n.1433G>A c.808G>A (p.Ala270Thr) c.1297G>A (p.Ala433Thr) c.894G>A (n.894G>A) c.611+32G>A (n.611+32G>A) c.319+2402G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435411G>A | CA6162240 | DHCR7 | c.1392C>T (p.Ala464=) c.1218C>T (p.Ala406=) c.1443C>T (p.Ala481=) c.1428C>T (p.Ala476=) c.*155C>T (n.*155C>T) n.1432C>T c.807C>T (p.Ala269=) c.1296C>T (p.Ala432=) c.893C>T (n.893C>T) c.611+31C>T (n.611+31C>T) c.319+2401C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.71435411G>C | CA475565672 | DHCR7 | c.1392C>G (p.Ala464=) c.1218C>G (p.Ala406=) c.1443C>G (p.Ala481=) c.1428C>G (p.Ala476=) c.*155C>G (n.*155C>G) n.1432C>G c.807C>G (p.Ala269=) c.1296C>G (p.Ala432=) c.893C>G (n.893C>G) c.611+31C>G (n.611+31C>G) c.319+2401C>G | |
11 | g.71435411G= | CA1981486795 | DHCR7 | c.1392C= (p.Ala464=) c.1218C= (p.Ala406=) c.1443C= (p.Ala481=) c.1428C= (p.Ala476=) c.*155C= (n.*155C=) n.1432C= c.807C= (p.Ala269=) c.1296C= (p.Ala432=) c.893C= (n.893C=) c.611+31C= (n.611+31C=) c.319+2401C= | |
11 | g.71435411G>T | CA475565675 | DHCR7 | c.1392C>A (p.Ala464=) c.1218C>A (p.Ala406=) c.1443C>A (p.Ala481=) c.1428C>A (p.Ala476=) c.*155C>A (n.*155C>A) n.1432C>A c.807C>A (p.Ala269=) c.1296C>A (p.Ala432=) c.893C>A (n.893C>A) c.611+31C>A (n.611+31C>A) c.319+2401C>A | |
11 | g.71435412G>A | CA381700508 | DHCR7 | c.1391C>T (p.Ala464Val) c.1217C>T (p.Ala406Val) c.1442C>T (p.Ala481Val) c.1427C>T (p.Ala476Val) c.*154C>T (n.*154C>T) n.1431C>T c.806C>T (p.Ala269Val) c.1295C>T (p.Ala432Val) c.892C>T (n.892C>T) c.611+30C>T (n.611+30C>T) c.319+2400C>T | gnomAD v4 |
11 | g.71435412G>C | CA381700513 | DHCR7 | c.1391C>G (p.Ala464Gly) c.1217C>G (p.Ala406Gly) c.1442C>G (p.Ala481Gly) c.1427C>G (p.Ala476Gly) c.*154C>G (n.*154C>G) n.1431C>G c.806C>G (p.Ala269Gly) c.1295C>G (p.Ala432Gly) c.892C>G (n.892C>G) c.611+30C>G (n.611+30C>G) c.319+2400C>G | |
11 | g.71435412G>T | CA381700510 | DHCR7 | c.1391C>A (p.Ala464Asp) c.1217C>A (p.Ala406Asp) c.1442C>A (p.Ala481Asp) c.1427C>A (p.Ala476Asp) c.*154C>A (n.*154C>A) n.1431C>A c.806C>A (p.Ala269Asp) c.1295C>A (p.Ala432Asp) c.892C>A (n.892C>A) c.611+30C>A (n.611+30C>A) c.319+2400C>A | gnomAD v4 |
11 | g.71435413C>A | CA381700515 | DHCR7 | c.1390G>T (p.Ala464Ser) c.1216G>T (p.Ala406Ser) c.1441G>T (p.Ala481Ser) c.1426G>T (p.Ala476Ser) c.*153G>T (n.*153G>T) n.1430G>T c.805G>T (p.Ala269Ser) c.1294G>T (p.Ala432Ser) c.891G>T (n.891G>T) c.611+29G>T (n.611+29G>T) c.319+2399G>T | |
11 | g.71435413C= | CA1981486796 | DHCR7 | c.1390G= (p.Ala464=) c.1216G= (p.Ala406=) c.1441G= (p.Ala481=) c.1426G= (p.Ala476=) c.*153G= (n.*153G=) n.1430G= c.805G= (p.Ala269=) c.1294G= (p.Ala432=) c.891G= (n.891G=) c.611+29G= (n.611+29G=) c.319+2399G= | |
11 | g.71435413C>G | CA381700516 | DHCR7 | c.1390G>C (p.Ala464Pro) c.1216G>C (p.Ala406Pro) c.1441G>C (p.Ala481Pro) c.1426G>C (p.Ala476Pro) c.*153G>C (n.*153G>C) n.1430G>C c.805G>C (p.Ala269Pro) c.1294G>C (p.Ala432Pro) c.891G>C (n.891G>C) c.611+29G>C (n.611+29G>C) c.319+2399G>C | |
11 | g.71435413C>T | CA224323740 | DHCR7 | c.1390G>A (p.Ala464Thr) c.1216G>A (p.Ala406Thr) c.1441G>A (p.Ala481Thr) c.1426G>A (p.Ala476Thr) c.*153G>A (n.*153G>A) n.1430G>A c.805G>A (p.Ala269Thr) c.1294G>A (p.Ala432Thr) c.891G>A (n.891G>A) c.611+29G>A (n.611+29G>A) c.319+2399G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435413_71435414insA | CA1981486797 | DHCR7 | c.1389_1390insT (p.Ala464CysfsTer?) c.1215_1216insT (p.Ala406CysfsTer?) c.1440_1441insT (p.Ala481CysfsTer?) c.1425_1426insT (p.Ala476CysfsTer?) c.*152_*153insT (n.*152_*153insT) n.1429_1430insT c.804_805insT (p.Ala269CysfsTer?) c.1293_1294insT (p.Ala432CysfsTer?) c.890_891insT (n.890_891insT) c.611+28_611+29insT (n.611+28_611+29insT) c.319+2398_319+2399insT | dbSNP gnomAD v4 |
11 | g.71435414G>A | CA6162241 | DHCR7 | c.1389C>T (p.Thr463=) c.1215C>T (p.Thr405=) c.1440C>T (p.Thr480=) c.1425C>T (p.Thr475=) c.*152C>T (n.*152C>T) n.1429C>T c.804C>T (p.Thr268=) c.1293C>T (p.Thr431=) c.890C>T (n.890C>T) c.611+28C>T (n.611+28C>T) c.319+2398C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435414G>C | CA475565689 | DHCR7 | c.1389C>G (p.Thr463=) c.1215C>G (p.Thr405=) c.1440C>G (p.Thr480=) c.1425C>G (p.Thr475=) c.*152C>G (n.*152C>G) n.1429C>G c.804C>G (p.Thr268=) c.1293C>G (p.Thr431=) c.890C>G (n.890C>G) c.611+28C>G (n.611+28C>G) c.319+2398C>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71435414G= | CA1981486798 | DHCR7 | c.1389C= (p.Thr463=) c.1215C= (p.Thr405=) c.1440C= (p.Thr480=) c.1425C= (p.Thr475=) c.*152C= (n.*152C=) n.1429C= c.804C= (p.Thr268=) c.1293C= (p.Thr431=) c.890C= (n.890C=) c.611+28C= (n.611+28C=) c.319+2398C= | |
11 | g.71435414G>T | CA475565692 | DHCR7 | c.1389C>A (p.Thr463=) c.1215C>A (p.Thr405=) c.1440C>A (p.Thr480=) c.1425C>A (p.Thr475=) c.*152C>A (n.*152C>A) n.1429C>A c.804C>A (p.Thr268=) c.1293C>A (p.Thr431=) c.890C>A (n.890C>A) c.611+28C>A (n.611+28C>A) c.319+2398C>A | |
11 | g.71435415G>A | CA381700522 | DHCR7 | c.1388C>T (p.Thr463Ile) c.1214C>T (p.Thr405Ile) c.1439C>T (p.Thr480Ile) c.1424C>T (p.Thr475Ile) c.*151C>T (n.*151C>T) n.1428C>T c.803C>T (p.Thr268Ile) c.1292C>T (p.Thr431Ile) c.889C>T (n.889C>T) c.611+27C>T (n.611+27C>T) c.319+2397C>T | dbSNP gnomAD v4 |
11 | g.71435415G>C | CA381700524 | DHCR7 | c.1388C>G (p.Thr463Ser) c.1214C>G (p.Thr405Ser) c.1439C>G (p.Thr480Ser) c.1424C>G (p.Thr475Ser) c.*151C>G (n.*151C>G) n.1428C>G c.803C>G (p.Thr268Ser) c.1292C>G (p.Thr431Ser) c.889C>G (n.889C>G) c.611+27C>G (n.611+27C>G) c.319+2397C>G | gnomAD v4 |
11 | g.71435415G= | CA1981486799 | DHCR7 | c.1388C= (p.Thr463=) c.1214C= (p.Thr405=) c.1439C= (p.Thr480=) c.1424C= (p.Thr475=) c.*151C= (n.*151C=) n.1428C= c.803C= (p.Thr268=) c.1292C= (p.Thr431=) c.889C= (n.889C=) c.611+27C= (n.611+27C=) c.319+2397C= | |
11 | g.71435415G>T | CA381700526 | DHCR7 | c.1388C>A (p.Thr463Asn) c.1214C>A (p.Thr405Asn) c.1439C>A (p.Thr480Asn) c.1424C>A (p.Thr475Asn) c.*151C>A (n.*151C>A) n.1428C>A c.803C>A (p.Thr268Asn) c.1292C>A (p.Thr431Asn) c.889C>A (n.889C>A) c.611+27C>A (n.611+27C>A) c.319+2397C>A | |
11 | g.71435416T>A | CA381700529 | DHCR7 | c.1387A>T (p.Thr463Ser) c.1213A>T (p.Thr405Ser) c.1438A>T (p.Thr480Ser) c.1423A>T (p.Thr475Ser) c.*150A>T (n.*150A>T) n.1427A>T c.802A>T (p.Thr268Ser) c.1291A>T (p.Thr431Ser) c.888A>T (n.888A>T) c.611+26A>T (n.611+26A>T) c.319+2396A>T | |
11 | g.71435416T>C | CA381700531 | DHCR7 | c.1387A>G (p.Thr463Ala) c.1213A>G (p.Thr405Ala) c.1438A>G (p.Thr480Ala) c.1423A>G (p.Thr475Ala) c.*150A>G (n.*150A>G) n.1427A>G c.802A>G (p.Thr268Ala) c.1291A>G (p.Thr431Ala) c.888A>G (n.888A>G) c.611+26A>G (n.611+26A>G) c.319+2396A>G | |
11 | g.71435416T>G | CA381700533 | DHCR7 | c.1387A>C (p.Thr463Pro) c.1213A>C (p.Thr405Pro) c.1438A>C (p.Thr480Pro) c.1423A>C (p.Thr475Pro) c.*150A>C (n.*150A>C) n.1427A>C c.802A>C (p.Thr268Pro) c.1291A>C (p.Thr431Pro) c.888A>C (n.888A>C) c.611+26A>C (n.611+26A>C) c.319+2396A>C | dbSNP gnomAD v4 |
11 | g.71435417G>A | CA475565714 | DHCR7 | c.1386C>T (p.Tyr462=) c.1212C>T (p.Tyr404=) c.1437C>T (p.Tyr479=) c.1422C>T (p.Tyr474=) c.*149C>T (n.*149C>T) n.1426C>T c.801C>T (p.Tyr267=) c.1290C>T (p.Tyr430=) c.887C>T (n.887C>T) c.611+25C>T (n.611+25C>T) c.319+2395C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435417G>C | CA381700535 | DHCR7 | c.1386C>G (p.Tyr462Ter) c.1212C>G (p.Tyr404Ter) c.1437C>G (p.Tyr479Ter) c.1422C>G (p.Tyr474Ter) c.*149C>G (n.*149C>G) n.1426C>G c.801C>G (p.Tyr267Ter) c.1290C>G (p.Tyr430Ter) c.887C>G (n.887C>G) c.611+25C>G (n.611+25C>G) c.319+2395C>G | |
11 | g.71435417G= | CA1981486800 | DHCR7 | c.1386C= (p.Tyr462=) c.1212C= (p.Tyr404=) c.1437C= (p.Tyr479=) c.1422C= (p.Tyr474=) c.*149C= (n.*149C=) n.1426C= c.801C= (p.Tyr267=) c.1290C= (p.Tyr430=) c.887C= (n.887C=) c.611+25C= (n.611+25C=) c.319+2395C= | |
11 | g.71435417G>T | CA381700536 | DHCR7 | c.1386C>A (p.Tyr462Ter) c.1212C>A (p.Tyr404Ter) c.1437C>A (p.Tyr479Ter) c.1422C>A (p.Tyr474Ter) c.*149C>A (n.*149C>A) n.1426C>A c.801C>A (p.Tyr267Ter) c.1290C>A (p.Tyr430Ter) c.887C>A (n.887C>A) c.611+25C>A (n.611+25C>A) c.319+2395C>A | ClinVar dbSNP |
11 | g.71435418T>A | CA381700539 | DHCR7 | c.1385A>T (p.Tyr462Phe) c.1211A>T (p.Tyr404Phe) c.1436A>T (p.Tyr479Phe) c.1421A>T (p.Tyr474Phe) c.*148A>T (n.*148A>T) n.1425A>T c.800A>T (p.Tyr267Phe) c.1289A>T (p.Tyr430Phe) c.886A>T (n.886A>T) c.611+24A>T (n.611+24A>T) c.319+2394A>T | |
11 | g.71435418T>C | CA381700543 | DHCR7 | c.1385A>G (p.Tyr462Cys) c.1211A>G (p.Tyr404Cys) c.1436A>G (p.Tyr479Cys) c.1421A>G (p.Tyr474Cys) c.*148A>G (n.*148A>G) n.1425A>G c.800A>G (p.Tyr267Cys) c.1289A>G (p.Tyr430Cys) c.886A>G (n.886A>G) c.611+24A>G (n.611+24A>G) c.319+2394A>G | ClinVar COSMIC COSMIC |
11 | g.71435418T>G | CA381700541 | DHCR7 | c.1385A>C (p.Tyr462Ser) c.1211A>C (p.Tyr404Ser) c.1436A>C (p.Tyr479Ser) c.1421A>C (p.Tyr474Ser) c.*148A>C (n.*148A>C) n.1425A>C c.800A>C (p.Tyr267Ser) c.1289A>C (p.Tyr430Ser) c.886A>C (n.886A>C) c.611+24A>C (n.611+24A>C) c.319+2394A>C | dbSNP gnomAD v4 |
11 | g.71435419A= | CA1981486801 | DHCR7 | c.1384T= (p.Tyr462=) c.1210T= (p.Tyr404=) c.1435T= (p.Tyr479=) c.1420T= (p.Tyr474=) c.*147T= (n.*147T=) n.1424T= c.799T= (p.Tyr267=) c.1288T= (p.Tyr430=) c.885T= (n.885T=) c.611+23T= (n.611+23T=) c.319+2393T= | |
11 | g.71435419A>C | CA381700545 | DHCR7 | c.1384T>G (p.Tyr462Asp) c.1210T>G (p.Tyr404Asp) c.1435T>G (p.Tyr479Asp) c.1420T>G (p.Tyr474Asp) c.*147T>G (n.*147T>G) n.1424T>G c.799T>G (p.Tyr267Asp) c.1288T>G (p.Tyr430Asp) c.885T>G (n.885T>G) c.611+23T>G (n.611+23T>G) c.319+2393T>G | |
11 | g.71435419A>G | CA221656 | DHCR7 | c.1384T>C (p.Tyr462His) c.1210T>C (p.Tyr404His) c.1435T>C (p.Tyr479His) c.1420T>C (p.Tyr474His) c.*147T>C (n.*147T>C) n.1424T>C c.799T>C (p.Tyr267His) c.1288T>C (p.Tyr430His) c.885T>C (n.885T>C) c.611+23T>C (n.611+23T>C) c.319+2393T>C | ClinVar dbSNP gnomAD v4 |
11 | g.71435419A>T | CA381700548 | DHCR7 | c.1384T>A (p.Tyr462Asn) c.1210T>A (p.Tyr404Asn) c.1435T>A (p.Tyr479Asn) c.1420T>A (p.Tyr474Asn) c.*147T>A (n.*147T>A) n.1424T>A c.799T>A (p.Tyr267Asn) c.1288T>A (p.Tyr430Asn) c.885T>A (n.885T>A) c.611+23T>A (n.611+23T>A) c.319+2393T>A | |
11 | g.71435420G>A | CA475565732 | DHCR7 | c.1383C>T (p.Arg461=) c.1209C>T (p.Arg403=) c.1434C>T (p.Arg478=) c.1419C>T (p.Arg473=) c.*146C>T (n.*146C>T) n.1423C>T c.798C>T (p.Arg266=) c.1287C>T (p.Arg429=) c.884C>T (n.884C>T) c.611+22C>T (n.611+22C>T) c.319+2392C>T | |
11 | g.71435420G>C | CA475565736 | DHCR7 | c.1383C>G (p.Arg461=) c.1209C>G (p.Arg403=) c.1434C>G (p.Arg478=) c.1419C>G (p.Arg473=) c.*146C>G (n.*146C>G) n.1423C>G c.798C>G (p.Arg266=) c.1287C>G (p.Arg429=) c.884C>G (n.884C>G) c.611+22C>G (n.611+22C>G) c.319+2392C>G | |
11 | g.71435420G>T | CA475565739 | DHCR7 | c.1383C>A (p.Arg461=) c.1209C>A (p.Arg403=) c.1434C>A (p.Arg478=) c.1419C>A (p.Arg473=) c.*146C>A (n.*146C>A) n.1423C>A c.798C>A (p.Arg266=) c.1287C>A (p.Arg429=) c.884C>A (n.884C>A) c.611+22C>A (n.611+22C>A) c.319+2392C>A | |
11 | g.71435421C>A | CA381700551 | DHCR7 | c.1382G>T (p.Arg461Leu) c.1208G>T (p.Arg403Leu) c.1433G>T (p.Arg478Leu) c.1418G>T (p.Arg473Leu) c.*145G>T (n.*145G>T) n.1422G>T c.797G>T (p.Arg266Leu) c.1286G>T (p.Arg429Leu) c.883G>T (n.883G>T) c.611+21G>T (n.611+21G>T) c.319+2391G>T | |
11 | g.71435421C= | CA1981486802 | DHCR7 | c.1382G= (p.Arg461=) c.1208G= (p.Arg403=) c.1433G= (p.Arg478=) c.1418G= (p.Arg473=) c.*145G= (n.*145G=) n.1422G= c.797G= (p.Arg266=) c.1286G= (p.Arg429=) c.883G= (n.883G=) c.611+21G= (n.611+21G=) c.319+2391G= | |
11 | g.71435421C>G | CA381700553 | DHCR7 | c.1382G>C (p.Arg461Pro) c.1208G>C (p.Arg403Pro) c.1433G>C (p.Arg478Pro) c.1418G>C (p.Arg473Pro) c.*145G>C (n.*145G>C) n.1422G>C c.797G>C (p.Arg266Pro) c.1286G>C (p.Arg429Pro) c.883G>C (n.883G>C) c.611+21G>C (n.611+21G>C) c.319+2391G>C | |
11 | g.71435421C>T | CA381700554 | DHCR7 | c.1382G>A (p.Arg461His) c.1208G>A (p.Arg403His) c.1433G>A (p.Arg478His) c.1418G>A (p.Arg473His) c.*145G>A (n.*145G>A) n.1422G>A c.797G>A (p.Arg266His) c.1286G>A (p.Arg429His) c.883G>A (n.883G>A) c.611+21G>A (n.611+21G>A) c.319+2391G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435421dup | CA2842972954 | DHCR7 | c.1382dup (p.Tyr462LeufsTer?) c.1208dup (p.Tyr404LeufsTer?) c.1433dup (p.Tyr479LeufsTer?) c.1418dup (p.Tyr474LeufsTer?) c.*145dup (n.*145dup) n.1422dup c.797dup (p.Tyr267LeufsTer?) c.1286dup (p.Tyr430LeufsTer?) c.883dup (n.883dup) c.611+21dup (n.611+21dup) c.319+2391dup | |
11 | g.71435422G>A | CA6162242 | DHCR7 | c.1381C>T (p.Arg461Cys) c.1207C>T (p.Arg403Cys) c.1432C>T (p.Arg478Cys) c.1417C>T (p.Arg473Cys) c.*144C>T (n.*144C>T) n.1421C>T c.796C>T (p.Arg266Cys) c.1285C>T (p.Arg429Cys) c.882C>T (n.882C>T) c.611+20C>T (n.611+20C>T) c.319+2390C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435422G>C | CA381700556 | DHCR7 | c.1381C>G (p.Arg461Gly) c.1207C>G (p.Arg403Gly) c.1432C>G (p.Arg478Gly) c.1417C>G (p.Arg473Gly) c.*144C>G (n.*144C>G) n.1421C>G c.796C>G (p.Arg266Gly) c.1285C>G (p.Arg429Gly) c.882C>G (n.882C>G) c.611+20C>G (n.611+20C>G) c.319+2390C>G | |
11 | g.71435422G= | CA1981486803 | DHCR7 | c.1381C= (p.Arg461=) c.1207C= (p.Arg403=) c.1432C= (p.Arg478=) c.1417C= (p.Arg473=) c.*144C= (n.*144C=) n.1421C= c.796C= (p.Arg266=) c.1285C= (p.Arg429=) c.882C= (n.882C=) c.611+20C= (n.611+20C=) c.319+2390C= | |
11 | g.71435422G>T | CA381700558 | DHCR7 | c.1381C>A (p.Arg461Ser) c.1207C>A (p.Arg403Ser) c.1432C>A (p.Arg478Ser) c.1417C>A (p.Arg473Ser) c.*144C>A (n.*144C>A) n.1421C>A c.796C>A (p.Arg266Ser) c.1285C>A (p.Arg429Ser) c.882C>A (n.882C>A) c.611+20C>A (n.611+20C>A) c.319+2390C>A | |
11 | g.71435423C>A | CA381700562 | DHCR7 | c.1380G>T (p.Glu460Asp) c.1206G>T (p.Glu402Asp) c.1431G>T (p.Glu477Asp) c.1416G>T (p.Glu472Asp) c.*143G>T (n.*143G>T) n.1420G>T c.795G>T (p.Glu265Asp) c.1284G>T (p.Glu428Asp) c.881G>T (n.881G>T) c.611+19G>T (n.611+19G>T) c.319+2389G>T | |
11 | g.71435423C>G | CA381700564 | DHCR7 | c.1380G>C (p.Glu460Asp) c.1206G>C (p.Glu402Asp) c.1431G>C (p.Glu477Asp) c.1416G>C (p.Glu472Asp) c.*143G>C (n.*143G>C) n.1420G>C c.795G>C (p.Glu265Asp) c.1284G>C (p.Glu428Asp) c.881G>C (n.881G>C) c.611+19G>C (n.611+19G>C) c.319+2389G>C | |
11 | g.71435423C>T | CA475565756 | DHCR7 | c.1380G>A (p.Glu460=) c.1206G>A (p.Glu402=) c.1431G>A (p.Glu477=) c.1416G>A (p.Glu472=) c.*143G>A (n.*143G>A) n.1420G>A c.795G>A (p.Glu265=) c.1284G>A (p.Glu428=) c.881G>A (n.881G>A) c.611+19G>A (n.611+19G>A) c.319+2389G>A | ClinVar gnomAD v4 COSMIC COSMIC |
11 | g.71435424T>A | CA381700567 | DHCR7 | c.1379A>T (p.Glu460Val) c.1205A>T (p.Glu402Val) c.1430A>T (p.Glu477Val) c.1415A>T (p.Glu472Val) c.*142A>T (n.*142A>T) n.1419A>T c.794A>T (p.Glu265Val) c.1283A>T (p.Glu428Val) c.880A>T (n.880A>T) c.611+18A>T (n.611+18A>T) c.319+2388A>T | |
11 | g.71435424T>C | CA6162243 | DHCR7 | c.1379A>G (p.Glu460Gly) c.1205A>G (p.Glu402Gly) c.1430A>G (p.Glu477Gly) c.1415A>G (p.Glu472Gly) c.*142A>G (n.*142A>G) n.1419A>G c.794A>G (p.Glu265Gly) c.1283A>G (p.Glu428Gly) c.880A>G (n.880A>G) c.611+18A>G (n.611+18A>G) c.319+2388A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435424T>G | CA381700569 | DHCR7 | c.1379A>C (p.Glu460Ala) c.1205A>C (p.Glu402Ala) c.1430A>C (p.Glu477Ala) c.1415A>C (p.Glu472Ala) c.*142A>C (n.*142A>C) n.1419A>C c.794A>C (p.Glu265Ala) c.1283A>C (p.Glu428Ala) c.880A>C (n.880A>C) c.611+18A>C (n.611+18A>C) c.319+2388A>C | |
11 | g.71435424T= | CA1981486804 | DHCR7 | c.1379A= (p.Glu460=) c.1205A= (p.Glu402=) c.1430A= (p.Glu477=) c.1415A= (p.Glu472=) c.*142A= (n.*142A=) n.1419A= c.794A= (p.Glu265=) c.1283A= (p.Glu428=) c.880A= (n.880A=) c.611+18A= (n.611+18A=) c.319+2388A= | |
11 | g.71435425C>A | CA381700571 | DHCR7 | c.1378G>T (p.Glu460Ter) c.1204G>T (p.Glu402Ter) c.1429G>T (p.Glu477Ter) c.1414G>T (p.Glu472Ter) c.*141G>T (n.*141G>T) n.1418G>T c.793G>T (p.Glu265Ter) c.1282G>T (p.Glu428Ter) c.879G>T (n.879G>T) c.611+17G>T (n.611+17G>T) c.319+2387G>T | |
11 | g.71435425C>G | CA381700575 | DHCR7 | c.1378G>C (p.Glu460Gln) c.1204G>C (p.Glu402Gln) c.1429G>C (p.Glu477Gln) c.1414G>C (p.Glu472Gln) c.*141G>C (n.*141G>C) n.1418G>C c.793G>C (p.Glu265Gln) c.1282G>C (p.Glu428Gln) c.879G>C (n.879G>C) c.611+17G>C (n.611+17G>C) c.319+2387G>C | |
11 | g.71435425C>T | CA381700572 | DHCR7 | c.1378G>A (p.Glu460Lys) c.1204G>A (p.Glu402Lys) c.1429G>A (p.Glu477Lys) c.1414G>A (p.Glu472Lys) c.*141G>A (n.*141G>A) n.1418G>A c.793G>A (p.Glu265Lys) c.1282G>A (p.Glu428Lys) c.879G>A (n.879G>A) c.611+17G>A (n.611+17G>A) c.319+2387G>A | |
11 | g.71435426C>A | CA381700577 | DHCR7 | c.1377G>T (p.Trp459Cys) c.1203G>T (p.Trp401Cys) c.1428G>T (p.Trp476Cys) c.1413G>T (p.Trp471Cys) c.*140G>T (n.*140G>T) n.1417G>T c.792G>T (p.Trp264Cys) c.1281G>T (p.Trp427Cys) c.878G>T (n.878G>T) c.611+16G>T (n.611+16G>T) c.319+2386G>T | |
11 | g.71435426C>G | CA381700579 | DHCR7 | c.1377G>C (p.Trp459Cys) c.1203G>C (p.Trp401Cys) c.1428G>C (p.Trp476Cys) c.1413G>C (p.Trp471Cys) c.*140G>C (n.*140G>C) n.1417G>C c.792G>C (p.Trp264Cys) c.1281G>C (p.Trp427Cys) c.878G>C (n.878G>C) c.611+16G>C (n.611+16G>C) c.319+2386G>C | |
11 | g.71435426C>T | CA381700580 | DHCR7 | c.1377G>A (p.Trp459Ter) c.1203G>A (p.Trp401Ter) c.1428G>A (p.Trp476Ter) c.1413G>A (p.Trp471Ter) c.*140G>A (n.*140G>A) n.1417G>A c.792G>A (p.Trp264Ter) c.1281G>A (p.Trp427Ter) c.878G>A (n.878G>A) c.611+16G>A (n.611+16G>A) c.319+2386G>A | |
11 | g.71435427C>A | CA381700582 | DHCR7 | c.1376G>T (p.Trp459Leu) c.1202G>T (p.Trp401Leu) c.1427G>T (p.Trp476Leu) c.1412G>T (p.Trp471Leu) c.*139G>T (n.*139G>T) n.1416G>T c.791G>T (p.Trp264Leu) c.1280G>T (p.Trp427Leu) c.877G>T (n.877G>T) c.611+15G>T (n.611+15G>T) c.319+2385G>T | |
11 | g.71435427C= | CA1981486805 | DHCR7 | c.1376G= (p.Trp459=) c.1202G= (p.Trp401=) c.1427G= (p.Trp476=) c.1412G= (p.Trp471=) c.*139G= (n.*139G=) n.1416G= c.791G= (p.Trp264=) c.1280G= (p.Trp427=) c.877G= (n.877G=) c.611+15G= (n.611+15G=) c.319+2385G= | |
11 | g.71435427C>G | CA381700584 | DHCR7 | c.1376G>C (p.Trp459Ser) c.1202G>C (p.Trp401Ser) c.1427G>C (p.Trp476Ser) c.1412G>C (p.Trp471Ser) c.*139G>C (n.*139G>C) n.1416G>C c.791G>C (p.Trp264Ser) c.1280G>C (p.Trp427Ser) c.877G>C (n.877G>C) c.611+15G>C (n.611+15G>C) c.319+2385G>C | |
11 | g.71435427C>T | CA381700586 | DHCR7 | c.1376G>A (p.Trp459Ter) c.1202G>A (p.Trp401Ter) c.1427G>A (p.Trp476Ter) c.1412G>A (p.Trp471Ter) c.*139G>A (n.*139G>A) n.1416G>A c.791G>A (p.Trp264Ter) c.1280G>A (p.Trp427Ter) c.877G>A (n.877G>A) c.611+15G>A (n.611+15G>A) c.319+2385G>A | ClinVar dbSNP |
11 | g.71435428A= | CA1981486806 | DHCR7 | c.1375T= (p.Trp459=) c.1201T= (p.Trp401=) c.1426T= (p.Trp476=) c.1411T= (p.Trp471=) c.*138T= (n.*138T=) n.1415T= c.790T= (p.Trp264=) c.1279T= (p.Trp427=) c.876T= (n.876T=) c.611+14T= (n.611+14T=) c.319+2384T= | |
11 | g.71435428A>C | CA381700589 | DHCR7 | c.1375T>G (p.Trp459Gly) c.1201T>G (p.Trp401Gly) c.1426T>G (p.Trp476Gly) c.1411T>G (p.Trp471Gly) c.*138T>G (n.*138T>G) n.1415T>G c.790T>G (p.Trp264Gly) c.1279T>G (p.Trp427Gly) c.876T>G (n.876T>G) c.611+14T>G (n.611+14T>G) c.319+2384T>G | |
11 | g.71435428A>G | CA381700591 | DHCR7 | c.1375T>C (p.Trp459Arg) c.1201T>C (p.Trp401Arg) c.1426T>C (p.Trp476Arg) c.1411T>C (p.Trp471Arg) c.*138T>C (n.*138T>C) n.1415T>C c.790T>C (p.Trp264Arg) c.1279T>C (p.Trp427Arg) c.876T>C (n.876T>C) c.611+14T>C (n.611+14T>C) c.319+2384T>C | dbSNP |
11 | g.71435428A>T | CA381700593 | DHCR7 | c.1375T>A (p.Trp459Arg) c.1201T>A (p.Trp401Arg) c.1426T>A (p.Trp476Arg) c.1411T>A (p.Trp471Arg) c.*138T>A (n.*138T>A) n.1415T>A c.790T>A (p.Trp264Arg) c.1279T>A (p.Trp427Arg) c.876T>A (n.876T>A) c.611+14T>A (n.611+14T>A) c.319+2384T>A | |
11 | g.71435429G>A | CA475565799 | DHCR7 | c.1374C>T (p.Asp458=) c.1200C>T (p.Asp400=) c.1425C>T (p.Asp475=) c.1410C>T (p.Asp470=) c.*137C>T (n.*137C>T) n.1414C>T c.789C>T (p.Asp263=) c.1278C>T (p.Asp426=) c.875C>T (n.875C>T) c.611+13C>T (n.611+13C>T) c.319+2383C>T | |
11 | g.71435429G>C | CA381700595 | DHCR7 | c.1374C>G (p.Asp458Glu) c.1200C>G (p.Asp400Glu) c.1425C>G (p.Asp475Glu) c.1410C>G (p.Asp470Glu) c.*137C>G (n.*137C>G) n.1414C>G c.789C>G (p.Asp263Glu) c.1278C>G (p.Asp426Glu) c.875C>G (n.875C>G) c.611+13C>G (n.611+13C>G) c.319+2383C>G | |
11 | g.71435429G>T | CA381700597 | DHCR7 | c.1374C>A (p.Asp458Glu) c.1200C>A (p.Asp400Glu) c.1425C>A (p.Asp475Glu) c.1410C>A (p.Asp470Glu) c.*137C>A (n.*137C>A) n.1414C>A c.789C>A (p.Asp263Glu) c.1278C>A (p.Asp426Glu) c.875C>A (n.875C>A) c.611+13C>A (n.611+13C>A) c.319+2383C>A | |
11 | g.71435430T>A | CA381700600 | DHCR7 | c.1373A>T (p.Asp458Val) c.1199A>T (p.Asp400Val) c.1424A>T (p.Asp475Val) c.1409A>T (p.Asp470Val) c.*136A>T (n.*136A>T) n.1413A>T c.788A>T (p.Asp263Val) c.1277A>T (p.Asp426Val) c.874A>T (n.874A>T) c.611+12A>T (n.611+12A>T) c.319+2382A>T | |
11 | g.71435430T>C | CA381700598 | DHCR7 | c.1373A>G (p.Asp458Gly) c.1199A>G (p.Asp400Gly) c.1424A>G (p.Asp475Gly) c.1409A>G (p.Asp470Gly) c.*136A>G (n.*136A>G) n.1413A>G c.788A>G (p.Asp263Gly) c.1277A>G (p.Asp426Gly) c.874A>G (n.874A>G) c.611+12A>G (n.611+12A>G) c.319+2382A>G | ClinVar |
11 | g.71435430T>G | CA381700599 | DHCR7 | c.1373A>C (p.Asp458Ala) c.1199A>C (p.Asp400Ala) c.1424A>C (p.Asp475Ala) c.1409A>C (p.Asp470Ala) c.*136A>C (n.*136A>C) n.1413A>C c.788A>C (p.Asp263Ala) c.1277A>C (p.Asp426Ala) c.874A>C (n.874A>C) c.611+12A>C (n.611+12A>C) c.319+2382A>C | |
11 | g.71435431C>A | CA381700601 | DHCR7 | c.1372G>T (p.Asp458Tyr) c.1198G>T (p.Asp400Tyr) c.1423G>T (p.Asp475Tyr) c.1408G>T (p.Asp470Tyr) c.*135G>T (n.*135G>T) n.1412G>T c.787G>T (p.Asp263Tyr) c.1276G>T (p.Asp426Tyr) c.873G>T (n.873G>T) c.611+11G>T (n.611+11G>T) c.319+2381G>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71435431C= | CA1981486807 | DHCR7 | c.1372G= (p.Asp458=) c.1198G= (p.Asp400=) c.1423G= (p.Asp475=) c.1408G= (p.Asp470=) c.*135G= (n.*135G=) n.1412G= c.787G= (p.Asp263=) c.1276G= (p.Asp426=) c.873G= (n.873G=) c.611+11G= (n.611+11G=) c.319+2381G= | |
11 | g.71435431C>G | CA381700603 | DHCR7 | c.1372G>C (p.Asp458His) c.1198G>C (p.Asp400His) c.1423G>C (p.Asp475His) c.1408G>C (p.Asp470His) c.*135G>C (n.*135G>C) n.1412G>C c.787G>C (p.Asp263His) c.1276G>C (p.Asp426His) c.873G>C (n.873G>C) c.611+11G>C (n.611+11G>C) c.319+2381G>C | dbSNP |
11 | g.71435431C>T | CA381700602 | DHCR7 | c.1372G>A (p.Asp458Asn) c.1198G>A (p.Asp400Asn) c.1423G>A (p.Asp475Asn) c.1408G>A (p.Asp470Asn) c.*135G>A (n.*135G>A) n.1412G>A c.787G>A (p.Asp263Asn) c.1276G>A (p.Asp426Asn) c.873G>A (n.873G>A) c.611+11G>A (n.611+11G>A) c.319+2381G>A | gnomAD v4 |
11 | g.71435432C>A | CA475565816 | DHCR7 | c.1371G>T (p.Arg457=) c.1197G>T (p.Arg399=) c.1422G>T (p.Arg474=) c.1407G>T (p.Arg469=) c.*134G>T (n.*134G>T) n.1411G>T c.786G>T (p.Arg262=) c.1275G>T (p.Arg425=) c.872G>T (n.872G>T) c.611+10G>T (n.611+10G>T) c.319+2380G>T | |
11 | g.71435432C>G | CA475565817 | DHCR7 | c.1371G>C (p.Arg457=) c.1197G>C (p.Arg399=) c.1422G>C (p.Arg474=) c.1407G>C (p.Arg469=) c.*134G>C (n.*134G>C) n.1411G>C c.786G>C (p.Arg262=) c.1275G>C (p.Arg425=) c.872G>C (n.872G>C) c.611+10G>C (n.611+10G>C) c.319+2380G>C | |
11 | g.71435432C>T | CA475565819 | DHCR7 | c.1371G>A (p.Arg457=) c.1197G>A (p.Arg399=) c.1422G>A (p.Arg474=) c.1407G>A (p.Arg469=) c.*134G>A (n.*134G>A) n.1411G>A c.786G>A (p.Arg262=) c.1275G>A (p.Arg425=) c.872G>A (n.872G>A) c.611+10G>A (n.611+10G>A) c.319+2380G>A | gnomAD v4 COSMIC COSMIC |
11 | g.71435433C>A | CA381700605 | DHCR7 | c.1370G>T (p.Arg457Leu) c.1196G>T (p.Arg399Leu) c.1421G>T (p.Arg474Leu) c.1406G>T (p.Arg469Leu) c.*133G>T (n.*133G>T) n.1410G>T c.785G>T (p.Arg262Leu) c.1274G>T (p.Arg425Leu) c.871G>T (n.871G>T) c.611+9G>T (n.611+9G>T) c.319+2379G>T | |
11 | g.71435433C= | CA1981486808 | DHCR7 | c.1370G= (p.Arg457=) c.1196G= (p.Arg399=) c.1421G= (p.Arg474=) c.1406G= (p.Arg469=) c.*133G= (n.*133G=) n.1410G= c.785G= (p.Arg262=) c.1274G= (p.Arg425=) c.871G= (n.871G=) c.611+9G= (n.611+9G=) c.319+2379G= | |
11 | g.71435433C>G | CA381700607 | DHCR7 | c.1370G>C (p.Arg457Pro) c.1196G>C (p.Arg399Pro) c.1421G>C (p.Arg474Pro) c.1406G>C (p.Arg469Pro) c.*133G>C (n.*133G>C) n.1410G>C c.785G>C (p.Arg262Pro) c.1274G>C (p.Arg425Pro) c.871G>C (n.871G>C) c.611+9G>C (n.611+9G>C) c.319+2379G>C | |
11 | g.71435433C>T | CA10605135 | DHCR7 | c.1370G>A (p.Arg457Gln) c.1196G>A (p.Arg399Gln) c.1421G>A (p.Arg474Gln) c.1406G>A (p.Arg469Gln) c.*133G>A (n.*133G>A) n.1410G>A c.785G>A (p.Arg262Gln) c.1274G>A (p.Arg425Gln) c.871G>A (n.871G>A) c.611+9G>A (n.611+9G>A) c.319+2379G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435434G>A | CA6162244 | DHCR7 | c.1369C>T (p.Arg457Trp) c.1195C>T (p.Arg399Trp) c.1420C>T (p.Arg474Trp) c.1405C>T (p.Arg469Trp) c.*132C>T (n.*132C>T) n.1409C>T c.784C>T (p.Arg262Trp) c.1273C>T (p.Arg425Trp) c.870C>T (n.870C>T) c.611+8C>T (n.611+8C>T) c.319+2378C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435434G>C | CA381700610 | DHCR7 | c.1369C>G (p.Arg457Gly) c.1195C>G (p.Arg399Gly) c.1420C>G (p.Arg474Gly) c.1405C>G (p.Arg469Gly) c.*132C>G (n.*132C>G) n.1409C>G c.784C>G (p.Arg262Gly) c.1273C>G (p.Arg425Gly) c.870C>G (n.870C>G) c.611+8C>G (n.611+8C>G) c.319+2378C>G | |
11 | g.71435434G= | CA1981486809 | DHCR7 | c.1369C= (p.Arg457=) c.1195C= (p.Arg399=) c.1420C= (p.Arg474=) c.1405C= (p.Arg469=) c.*132C= (n.*132C=) n.1409C= c.784C= (p.Arg262=) c.1273C= (p.Arg425=) c.870C= (n.870C=) c.611+8C= (n.611+8C=) c.319+2378C= | |
11 | g.71435434G>T | CA224323768 | DHCR7 | c.1369C>A (p.Arg457=) c.1195C>A (p.Arg399=) c.1420C>A (p.Arg474=) c.1405C>A (p.Arg469=) c.*132C>A (n.*132C>A) n.1409C>A c.784C>A (p.Arg262=) c.1273C>A (p.Arg425=) c.870C>A (n.870C>A) c.611+8C>A (n.611+8C>A) c.319+2378C>A | dbSNP gnomAD v4 |
11 | g.71435435G>A | CA221653 | DHCR7 | c.1368C>T (p.Gly456=) c.1194C>T (p.Gly398=) c.1419C>T (p.Gly473=) c.1404C>T (p.Gly468=) c.*131C>T (n.*131C>T) n.1408C>T c.783C>T (p.Gly261=) c.1272C>T (p.Gly424=) c.869C>T (n.869C>T) c.611+7C>T (n.611+7C>T) c.319+2377C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435435G>C | CA6162245 | DHCR7 | c.1368C>G (p.Gly456=) c.1194C>G (p.Gly398=) c.1419C>G (p.Gly473=) c.1404C>G (p.Gly468=) c.*131C>G (n.*131C>G) n.1408C>G c.783C>G (p.Gly261=) c.1272C>G (p.Gly424=) c.869C>G (n.869C>G) c.611+7C>G (n.611+7C>G) c.319+2377C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435435G= | CA1981486810 | DHCR7 | c.1368C= (p.Gly456=) c.1194C= (p.Gly398=) c.1419C= (p.Gly473=) c.1404C= (p.Gly468=) c.*131C= (n.*131C=) n.1408C= c.783C= (p.Gly261=) c.1272C= (p.Gly424=) c.869C= (n.869C=) c.611+7C= (n.611+7C=) c.319+2377C= | |
11 | g.71435435G>T | CA475565845 | DHCR7 | c.1368C>A (p.Gly456=) c.1194C>A (p.Gly398=) c.1419C>A (p.Gly473=) c.1404C>A (p.Gly468=) c.*131C>A (n.*131C>A) n.1408C>A c.783C>A (p.Gly261=) c.1272C>A (p.Gly424=) c.869C>A (n.869C>A) c.611+7C>A (n.611+7C>A) c.319+2377C>A | gnomAD v4 |
11 | g.71435436C>A | CA6162246 | DHCR7 | c.1367G>T (p.Gly456Val) c.1193G>T (p.Gly398Val) c.1418G>T (p.Gly473Val) c.1403G>T (p.Gly468Val) c.*130G>T (n.*130G>T) n.1407G>T c.782G>T (p.Gly261Val) c.1271G>T (p.Gly424Val) c.868G>T (n.868G>T) c.611+6G>T (n.611+6G>T) c.319+2376G>T | dbSNP ExAC gnomAD v2 |
11 | g.71435436C= | CA1981486811 | DHCR7 | c.1367G= (p.Gly456=) c.1193G= (p.Gly398=) c.1418G= (p.Gly473=) c.1403G= (p.Gly468=) c.*130G= (n.*130G=) n.1407G= c.782G= (p.Gly261=) c.1271G= (p.Gly424=) c.868G= (n.868G=) c.611+6G= (n.611+6G=) c.319+2376G= | |
11 | g.71435436C>G | CA381700615 | DHCR7 | c.1367G>C (p.Gly456Ala) c.1193G>C (p.Gly398Ala) c.1418G>C (p.Gly473Ala) c.1403G>C (p.Gly468Ala) c.*130G>C (n.*130G>C) n.1407G>C c.782G>C (p.Gly261Ala) c.1271G>C (p.Gly424Ala) c.868G>C (n.868G>C) c.611+6G>C (n.611+6G>C) c.319+2376G>C | |
11 | g.71435436C>T | CA381700617 | DHCR7 | c.1367G>A (p.Gly456Asp) c.1193G>A (p.Gly398Asp) c.1418G>A (p.Gly473Asp) c.1403G>A (p.Gly468Asp) c.*130G>A (n.*130G>A) n.1407G>A c.782G>A (p.Gly261Asp) c.1271G>A (p.Gly424Asp) c.868G>A (n.868G>A) c.611+6G>A (n.611+6G>A) c.319+2376G>A | |
11 | g.71435437C>A | CA381700620 | DHCR7 | c.1366G>T (p.Gly456Cys) c.1192G>T (p.Gly398Cys) c.1417G>T (p.Gly473Cys) c.1402G>T (p.Gly468Cys) c.*129G>T (n.*129G>T) n.1406G>T c.781G>T (p.Gly261Cys) c.1270G>T (p.Gly424Cys) c.867G>T (n.867G>T) c.611+5G>T (n.611+5G>T) c.319+2375G>T | |
11 | g.71435437C= | CA1981486812 | DHCR7 | c.1366G= (p.Gly456=) c.1192G= (p.Gly398=) c.1417G= (p.Gly473=) c.1402G= (p.Gly468=) c.*129G= (n.*129G=) n.1406G= c.781G= (p.Gly261=) c.1270G= (p.Gly424=) c.867G= (n.867G=) c.611+5G= (n.611+5G=) c.319+2375G= | |
11 | g.71435437C>G | CA381700619 | DHCR7 | c.1366G>C (p.Gly456Arg) c.1192G>C (p.Gly398Arg) c.1417G>C (p.Gly473Arg) c.1402G>C (p.Gly468Arg) c.*129G>C (n.*129G>C) n.1406G>C c.781G>C (p.Gly261Arg) c.1270G>C (p.Gly424Arg) c.867G>C (n.867G>C) c.611+5G>C (n.611+5G>C) c.319+2375G>C | |
11 | g.71435437C>T | CA6162247 | DHCR7 | c.1366G>A (p.Gly456Ser) c.1192G>A (p.Gly398Ser) c.1417G>A (p.Gly473Ser) c.1402G>A (p.Gly468Ser) c.*129G>A (n.*129G>A) n.1406G>A c.781G>A (p.Gly261Ser) c.1270G>A (p.Gly424Ser) c.867G>A (n.867G>A) c.611+5G>A (n.611+5G>A) c.319+2375G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435438G>A | CA6162248 | DHCR7 | c.1365C>T (p.Tyr455=) c.1191C>T (p.Tyr397=) c.1416C>T (p.Tyr472=) c.1401C>T (p.Tyr467=) c.*128C>T (n.*128C>T) n.1405C>T c.780C>T (p.Tyr260=) c.1269C>T (p.Tyr423=) c.866C>T (n.866C>T) c.611+4C>T (n.611+4C>T) c.319+2374C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.71435438G>C | CA381700621 | DHCR7 | c.1365C>G (p.Tyr455Ter) c.1191C>G (p.Tyr397Ter) c.1416C>G (p.Tyr472Ter) c.1401C>G (p.Tyr467Ter) c.*128C>G (n.*128C>G) n.1405C>G c.780C>G (p.Tyr260Ter) c.1269C>G (p.Tyr423Ter) c.866C>G (n.866C>G) c.611+4C>G (n.611+4C>G) c.319+2374C>G | |
11 | g.71435438G= | CA1981486813 | DHCR7 | c.1365C= (p.Tyr455=) c.1191C= (p.Tyr397=) c.1416C= (p.Tyr472=) c.1401C= (p.Tyr467=) c.*128C= (n.*128C=) n.1405C= c.780C= (p.Tyr260=) c.1269C= (p.Tyr423=) c.866C= (n.866C=) c.611+4C= (n.611+4C=) c.319+2374C= | |
11 | g.71435438G>T | CA381700622 | DHCR7 | c.1365C>A (p.Tyr455Ter) c.1191C>A (p.Tyr397Ter) c.1416C>A (p.Tyr472Ter) c.1401C>A (p.Tyr467Ter) c.*128C>A (n.*128C>A) n.1405C>A c.780C>A (p.Tyr260Ter) c.1269C>A (p.Tyr423Ter) c.866C>A (n.866C>A) c.611+4C>A (n.611+4C>A) c.319+2374C>A | ClinVar |
11 | g.71435439T>A | CA381700623 | DHCR7 | c.1364A>T (p.Tyr455Phe) c.1190A>T (p.Tyr397Phe) c.1415A>T (p.Tyr472Phe) c.1400A>T (p.Tyr467Phe) c.*127A>T (n.*127A>T) n.1404A>T c.779A>T (p.Tyr260Phe) c.1268A>T (p.Tyr423Phe) c.865A>T (n.865A>T) c.611+3A>T (n.611+3A>T) c.319+2373A>T | ClinVar dbSNP |
11 | g.71435439T>C | CA381700624 | DHCR7 | c.1364A>G (p.Tyr455Cys) c.1190A>G (p.Tyr397Cys) c.1415A>G (p.Tyr472Cys) c.1400A>G (p.Tyr467Cys) c.*127A>G (n.*127A>G) n.1404A>G c.779A>G (p.Tyr260Cys) c.1268A>G (p.Tyr423Cys) c.865A>G (n.865A>G) c.611+3A>G (n.611+3A>G) c.319+2373A>G | |
11 | g.71435439T>G | CA381700626 | DHCR7 | c.1364A>C (p.Tyr455Ser) c.1190A>C (p.Tyr397Ser) c.1415A>C (p.Tyr472Ser) c.1400A>C (p.Tyr467Ser) c.*127A>C (n.*127A>C) n.1404A>C c.779A>C (p.Tyr260Ser) c.1268A>C (p.Tyr423Ser) c.865A>C (n.865A>C) c.611+3A>C (n.611+3A>C) c.319+2373A>C | |
11 | g.71435439T= | CA1981486814 | DHCR7 | c.1364A= (p.Tyr455=) c.1190A= (p.Tyr397=) c.1415A= (p.Tyr472=) c.1400A= (p.Tyr467=) c.*127A= (n.*127A=) n.1404A= c.779A= (p.Tyr260=) c.1268A= (p.Tyr423=) c.865A= (n.865A=) c.611+3A= (n.611+3A=) c.319+2373A= | |
11 | g.71435440A>C | CA381700627 | DHCR7 | c.1363T>G (p.Tyr455Asp) c.1189T>G (p.Tyr397Asp) c.1414T>G (p.Tyr472Asp) c.1399T>G (p.Tyr467Asp) c.*126T>G (n.*126T>G) n.1403T>G c.778T>G (p.Tyr260Asp) c.1267T>G (p.Tyr423Asp) c.864T>G (n.864T>G) c.611+2T>G (n.611+2T>G) c.319+2372T>G | |
11 | g.71435440A>G | CA381700628 | DHCR7 | c.1363T>C (p.Tyr455His) c.1189T>C (p.Tyr397His) c.1414T>C (p.Tyr472His) c.1399T>C (p.Tyr467His) c.*126T>C (n.*126T>C) n.1403T>C c.778T>C (p.Tyr260His) c.1267T>C (p.Tyr423His) c.864T>C (n.864T>C) c.611+2T>C (n.611+2T>C) c.319+2372T>C | |
11 | g.71435440A>T | CA381700631 | DHCR7 | c.1363T>A (p.Tyr455Asn) c.1189T>A (p.Tyr397Asn) c.1414T>A (p.Tyr472Asn) c.1399T>A (p.Tyr467Asn) c.*126T>A (n.*126T>A) n.1403T>A c.778T>A (p.Tyr260Asn) c.1267T>A (p.Tyr423Asn) c.864T>A (n.864T>A) c.611+2T>A (n.611+2T>A) c.319+2372T>A | |
11 | g.71435441C>A | CA381700633 | DHCR7 | c.1362G>T (p.Lys454Asn) c.1188G>T (p.Lys396Asn) c.1413G>T (p.Lys471Asn) c.1398G>T (p.Lys466Asn) c.*125G>T (n.*125G>T) n.1402G>T c.777G>T (p.Lys259Asn) c.1266G>T (p.Lys422Asn) c.863G>T (n.863G>T) c.611+1G>T (n.611+1G>T) c.319+2371G>T | |
11 | g.71435441C= | CA1981486815 | DHCR7 | c.1362G= (p.Lys454=) c.1188G= (p.Lys396=) c.1413G= (p.Lys471=) c.1398G= (p.Lys466=) c.*125G= (n.*125G=) n.1402G= c.777G= (p.Lys259=) c.1266G= (p.Lys422=) c.863G= (n.863G=) c.611+1G= (n.611+1G=) c.319+2371G= | |
11 | g.71435441C>G | CA381700635 | DHCR7 | c.1362G>C (p.Lys454Asn) c.1188G>C (p.Lys396Asn) c.1413G>C (p.Lys471Asn) c.1398G>C (p.Lys466Asn) c.*125G>C (n.*125G>C) n.1402G>C c.777G>C (p.Lys259Asn) c.1266G>C (p.Lys422Asn) c.863G>C (n.863G>C) c.611+1G>C (n.611+1G>C) c.319+2371G>C | |
11 | g.71435441C>T | CA248056 | DHCR7 | c.1362G>A (p.Lys454=) c.1188G>A (p.Lys396=) c.1413G>A (p.Lys471=) c.1398G>A (p.Lys466=) c.*125G>A (n.*125G>A) n.1402G>A c.777G>A (p.Lys259=) c.1266G>A (p.Lys422=) c.863G>A (n.863G>A) c.611+1G>A (n.611+1G>A) c.319+2371G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435442T>A | CA381700642 | DHCR7 | c.1361A>T (p.Lys454Met) c.1187A>T (p.Lys396Met) c.1412A>T (p.Lys471Met) c.1397A>T (p.Lys466Met) c.*124A>T (n.*124A>T) n.1401A>T c.776A>T (p.Lys259Met) c.1265A>T (p.Lys422Met) c.862A>T (n.862A>T) c.611A>T (p.Lys204Met) c.319+2370A>T | |
11 | g.71435442T>C | CA381700640 | DHCR7 | c.1361A>G (p.Lys454Arg) c.1187A>G (p.Lys396Arg) c.1412A>G (p.Lys471Arg) c.1397A>G (p.Lys466Arg) c.*124A>G (n.*124A>G) n.1401A>G c.776A>G (p.Lys259Arg) c.1265A>G (p.Lys422Arg) c.862A>G (n.862A>G) c.611A>G (p.Lys204Arg) c.319+2370A>G | dbSNP |
11 | g.71435442T>G | CA381700638 | DHCR7 | c.1361A>C (p.Lys454Thr) c.1187A>C (p.Lys396Thr) c.1412A>C (p.Lys471Thr) c.1397A>C (p.Lys466Thr) c.*124A>C (n.*124A>C) n.1401A>C c.776A>C (p.Lys259Thr) c.1265A>C (p.Lys422Thr) c.862A>C (n.862A>C) c.611A>C (p.Lys204Thr) c.319+2370A>C | dbSNP |
11 | g.71435442T= | CA1981486816 | DHCR7 | c.1361A= (p.Lys454=) c.1187A= (p.Lys396=) c.1412A= (p.Lys471=) c.1397A= (p.Lys466=) c.*124A= (n.*124A=) n.1401A= c.776A= (p.Lys259=) c.1265A= (p.Lys422=) c.862A= (n.862A=) c.611A= (p.Lys204=) c.319+2370A= | |
11 | g.71435443T>A | CA381700648 | DHCR7 | c.1360A>T (p.Lys454Ter) c.1186A>T (p.Lys396Ter) c.1411A>T (p.Lys471Ter) c.1396A>T (p.Lys466Ter) c.*123A>T (n.*123A>T) n.1400A>T c.775A>T (p.Lys259Ter) c.1264A>T (p.Lys422Ter) c.861A>T (n.861A>T) c.610A>T (p.Lys204Ter) c.319+2369A>T | ClinVar dbSNP |
11 | g.71435443T>C | CA381700644 | DHCR7 | c.1360A>G (p.Lys454Glu) c.1186A>G (p.Lys396Glu) c.1411A>G (p.Lys471Glu) c.1396A>G (p.Lys466Glu) c.*123A>G (n.*123A>G) n.1400A>G c.775A>G (p.Lys259Glu) c.1264A>G (p.Lys422Glu) c.861A>G (n.861A>G) c.610A>G (p.Lys204Glu) c.319+2369A>G | |
11 | g.71435443T>G | CA381700646 | DHCR7 | c.1360A>C (p.Lys454Gln) c.1186A>C (p.Lys396Gln) c.1411A>C (p.Lys471Gln) c.1396A>C (p.Lys466Gln) c.*123A>C (n.*123A>C) n.1400A>C c.775A>C (p.Lys259Gln) c.1264A>C (p.Lys422Gln) c.861A>C (n.861A>C) c.610A>C (p.Lys204Gln) c.319+2369A>C | |
11 | g.71435444G>A | CA475565883 | DHCR7 | c.1359C>T (p.Ser453=) c.1185C>T (p.Ser395=) c.1410C>T (p.Ser470=) c.1395C>T (p.Ser465=) c.*122C>T (n.*122C>T) n.1399C>T c.774C>T (p.Ser258=) c.1263C>T (p.Ser421=) c.860C>T (n.860C>T) c.609C>T (p.Ser203=) c.319+2368C>T | ClinVar |
11 | g.71435444G>C | CA381700650 | DHCR7 | c.1359C>G (p.Ser453Arg) c.1185C>G (p.Ser395Arg) c.1410C>G (p.Ser470Arg) c.1395C>G (p.Ser465Arg) c.*122C>G (n.*122C>G) n.1399C>G c.774C>G (p.Ser258Arg) c.1263C>G (p.Ser421Arg) c.860C>G (n.860C>G) c.609C>G (p.Ser203Arg) c.319+2368C>G | |
11 | g.71435444G>T | CA381700652 | DHCR7 | c.1359C>A (p.Ser453Arg) c.1185C>A (p.Ser395Arg) c.1410C>A (p.Ser470Arg) c.1395C>A (p.Ser465Arg) c.*122C>A (n.*122C>A) n.1399C>A c.774C>A (p.Ser258Arg) c.1263C>A (p.Ser421Arg) c.860C>A (n.860C>A) c.609C>A (p.Ser203Arg) c.319+2368C>A | |
11 | g.71435445C>A | CA381700654 | DHCR7 | c.1358G>T (p.Ser453Ile) c.1184G>T (p.Ser395Ile) c.1409G>T (p.Ser470Ile) c.1394G>T (p.Ser465Ile) c.*121G>T (n.*121G>T) n.1398G>T c.773G>T (p.Ser258Ile) c.1262G>T (p.Ser421Ile) c.859G>T (n.859G>T) c.608G>T (p.Ser203Ile) c.319+2367G>T | |
11 | g.71435445C= | CA1981486817 | DHCR7 | c.1358G= (p.Ser453=) c.1184G= (p.Ser395=) c.1409G= (p.Ser470=) c.1394G= (p.Ser465=) c.*121G= (n.*121G=) n.1398G= c.773G= (p.Ser258=) c.1262G= (p.Ser421=) c.859G= (n.859G=) c.608G= (p.Ser203=) c.319+2367G= | |
11 | g.71435445C>G | CA6162249 | DHCR7 | c.1358G>C (p.Ser453Thr) c.1184G>C (p.Ser395Thr) c.1409G>C (p.Ser470Thr) c.1394G>C (p.Ser465Thr) c.*121G>C (n.*121G>C) n.1398G>C c.773G>C (p.Ser258Thr) c.1262G>C (p.Ser421Thr) c.859G>C (n.859G>C) c.608G>C (p.Ser203Thr) c.319+2367G>C | dbSNP ExAC gnomAD v2 |
11 | g.71435445C>T | CA381700657 | DHCR7 | c.1358G>A (p.Ser453Asn) c.1184G>A (p.Ser395Asn) c.1409G>A (p.Ser470Asn) c.1394G>A (p.Ser465Asn) c.*121G>A (n.*121G>A) n.1398G>A c.773G>A (p.Ser258Asn) c.1262G>A (p.Ser421Asn) c.859G>A (n.859G>A) c.608G>A (p.Ser203Asn) c.319+2367G>A | |
11 | g.71435446T>A | CA381700658 | DHCR7 | c.1357A>T (p.Ser453Cys) c.1183A>T (p.Ser395Cys) c.1408A>T (p.Ser470Cys) c.1393A>T (p.Ser465Cys) c.*120A>T (n.*120A>T) n.1397A>T c.772A>T (p.Ser258Cys) c.1261A>T (p.Ser421Cys) c.858A>T (n.858A>T) c.607A>T (p.Ser203Cys) c.319+2366A>T | |
11 | g.71435446T>C | CA381700660 | DHCR7 | c.1357A>G (p.Ser453Gly) c.1183A>G (p.Ser395Gly) c.1408A>G (p.Ser470Gly) c.1393A>G (p.Ser465Gly) c.*120A>G (n.*120A>G) n.1397A>G c.772A>G (p.Ser258Gly) c.1261A>G (p.Ser421Gly) c.858A>G (n.858A>G) c.607A>G (p.Ser203Gly) c.319+2366A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71435446T>G | CA381700661 | DHCR7 | c.1357A>C (p.Ser453Arg) c.1183A>C (p.Ser395Arg) c.1408A>C (p.Ser470Arg) c.1393A>C (p.Ser465Arg) c.*120A>C (n.*120A>C) n.1397A>C c.772A>C (p.Ser258Arg) c.1261A>C (p.Ser421Arg) c.858A>C (n.858A>C) c.607A>C (p.Ser203Arg) c.319+2366A>C | |
11 | g.71435446T= | CA1981486818 | DHCR7 | c.1357A= (p.Ser453=) c.1183A= (p.Ser395=) c.1408A= (p.Ser470=) c.1393A= (p.Ser465=) c.*120A= (n.*120A=) n.1397A= c.772A= (p.Ser258=) c.1261A= (p.Ser421=) c.858A= (n.858A=) c.607A= (p.Ser203=) c.319+2366A= | |
11 | g.71435447G>A | CA475565891 | DHCR7 | c.1356C>T (p.Ala452=) c.1182C>T (p.Ala394=) c.1407C>T (p.Ala469=) c.1392C>T (p.Ala464=) c.*119C>T (n.*119C>T) n.1396C>T c.771C>T (p.Ala257=) c.1260C>T (p.Ala420=) c.857C>T (n.857C>T) c.606C>T (p.Ala202=) c.319+2365C>T | ClinVar |
11 | g.71435447G>C | CA475565893 | DHCR7 | c.1356C>G (p.Ala452=) c.1182C>G (p.Ala394=) c.1407C>G (p.Ala469=) c.1392C>G (p.Ala464=) c.*119C>G (n.*119C>G) n.1396C>G c.771C>G (p.Ala257=) c.1260C>G (p.Ala420=) c.857C>G (n.857C>G) c.606C>G (p.Ala202=) c.319+2365C>G | |
11 | g.71435447G>T | CA475565895 | DHCR7 | c.1356C>A (p.Ala452=) c.1182C>A (p.Ala394=) c.1407C>A (p.Ala469=) c.1392C>A (p.Ala464=) c.*119C>A (n.*119C>A) n.1396C>A c.771C>A (p.Ala257=) c.1260C>A (p.Ala420=) c.857C>A (n.857C>A) c.606C>A (p.Ala202=) c.319+2365C>A | gnomAD v4 |
11 | g.71435448del | CA2838257456 | DHCR7 | c.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 | |
11 | g.71435448G>A | CA381700664 | DHCR7 | c.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 | |
11 | g.71435448G>C | CA381700666 | DHCR7 | c.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 | |
11 | g.71435448G>T | CA381700668 | DHCR7 | c.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 |
11 | g.71435449C>A | CA381700671 | DHCR7 | c.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 |
11 | g.71435449C= | CA1981486819 | DHCR7 | c.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= | |
11 | g.71435449C>G | CA381700669 | DHCR7 | c.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 | |
11 | g.71435449C>T | CA6162250 | DHCR7 | c.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 |
11 | g.71435450G>A | CA224323876 | DHCR7 | c.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 |
11 | g.71435450G>C | CA381700673 | DHCR7 | c.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 | |
11 | g.71435450G= | CA1981486820 | DHCR7 | c.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= | |
11 | g.71435450G>T | CA381700675 | DHCR7 | c.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 | |
11 | g.71435451C>A | CA381700677 | DHCR7 | c.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 |
11 | g.71435451C= | CA1981486821 | DHCR7 | c.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= | |
11 | g.71435451C>G | CA381700679 | DHCR7 | c.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 | |
11 | g.71435451C>T | CA381700680 | DHCR7 | c.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 |
11 | g.71435452A= | CA1981486822 | DHCR7 | c.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= | |
11 | g.71435452A>C | CA381700682 | DHCR7 | c.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 | |
11 | g.71435452A>G | CA6162251 | DHCR7 | c.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 |
11 | g.71435452A>T | CA381700685 | DHCR7 | c.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 | |
11 | g.71435453G>A | CA475565919 | DHCR7 | c.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 | |
11 | g.71435453G>C | CA6162252 | DHCR7 | c.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 |
11 | g.71435453G= | CA1981486823 | DHCR7 | c.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= | |
11 | g.71435453G>T | CA475565923 | DHCR7 | c.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 | |
11 | g.71435453_71435454delinsCA | CA915948241 | DHCR7 | c.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 |
11 | g.71435453_71435454delinsGC | CA1981486824 | DHCR7 | c.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 | |
11 | g.71435454C>A | CA6162253 | DHCR7 | c.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 |
11 | g.71435454C= | CA1981486825 | DHCR7 | c.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= | |
11 | g.71435454C>G | CA381700689 | DHCR7 | c.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 |
11 | g.71435454C>T | CA224323879 | DHCR7 | c.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 |
11 | g.71435454_71435455delinsCG | CA1981486826 | DHCR7 | c.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 | |
11 | g.71435455G>A | CA6162254 | DHCR7 | c.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 |
11 | g.71435455G>C | CA381700692 | DHCR7 | c.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 | |
11 | g.71435455G= | CA1981486827 | DHCR7 | c.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= | |
11 | g.71435455G>T | CA381700695 | DHCR7 | c.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 | |
11 | g.71435456del | CA10604128 | DHCR7 | c.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 |
11 | g.71435456G>A | CA224323902 | DHCR7 | c.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 |
11 | g.71435456G>C | CA381700696 | DHCR7 | c.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 |
11 | g.71435456G= | CA1981486828 | DHCR7 | c.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= | |
11 | g.71435456G>T | CA381700698 | DHCR7 | c.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 | |
11 | g.71435457T>A | CA381700700 | DHCR7 | c.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 | |
11 | g.71435457T>C | CA381700702 | DHCR7 | c.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 | |
11 | g.71435457T>G | CA381700704 | DHCR7 | c.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 | |
11 | g.71435458G>A | CA6162255 | DHCR7 | c.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 |
11 | g.71435458G>C | CA381700705 | DHCR7 | c.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 | |
11 | g.71435458G= | CA1981486829 | DHCR7 | c.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= | |
11 | g.71435458G>T | CA381700708 | DHCR7 | c.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 | |
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.71435459C>A | CA381700710 | DHCR7 | c.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 | |
11 | g.71435459C>G | CA381700712 | DHCR7 | c.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 | |
11 | g.71435459C>T | CA475565951 | DHCR7 | c.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 | |
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.71435460T>A | CA381700714 | DHCR7 | c.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 | |
11 | g.71435460T>C | CA381700716 | DHCR7 | c.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 | |
11 | g.71435460T>G | CA381700718 | DHCR7 | c.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 | |
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 | |
11 | g.71435474G>A | CA475565990 | DHCR7 | c.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 | |
11 | g.71435474G>C | CA475565991 | DHCR7 | c.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 | |
11 | g.71435474G>T | CA475565992 | DHCR7 | c.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 | |
11 | g.71435475C>A | CA6162262 | DHCR7 | c.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 |
11 | g.71435475C= | CA1981486838 | DHCR7 | c.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= | |
11 | g.71435475C>G | CA6162260 | DHCR7 | c.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 |
11 | g.71435475C>T | CA6162261 | DHCR7 | c.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 |
11 | g.71435476G>A | CA6162263 | DHCR7 | c.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 |
11 | g.71435476G>C | CA381700830 | DHCR7 | c.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 |
11 | g.71435476G= | CA1981486839 | DHCR7 | c.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= | |
11 | g.71435476G>T | CA381700833 | DHCR7 | c.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 |
11 | g.71435477G>A | CA475565998 | DHCR7 | c.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 |
11 | g.71435477G>C | CA381700835 | DHCR7 | c.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 | |
11 | g.71435477G>T | CA381700836 | DHCR7 | c.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 | |
11 | g.71435478T>A | CA381700839 | DHCR7 | c.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 | |
11 | g.71435478T>C | CA381700842 | DHCR7 | c.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 |
11 | g.71435478T>G | CA381700843 | DHCR7 | c.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 | |
11 | g.71435478T= | CA1981486840 | DHCR7 | c.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= | |
11 | g.71435479G>A | CA381700847 | DHCR7 | c.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 |
11 | g.71435479G>C | CA381700849 | DHCR7 | c.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 |
11 | g.71435479G>T | CA381700850 | DHCR7 | c.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 | |
11 | g.71435480G>A | CA475566013 | DHCR7 | c.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 |
11 | g.71435480G>C | CA475566015 | DHCR7 | c.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 | |
11 | g.71435480G= | CA1981486841 | DHCR7 | c.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= | |
11 | g.71435480G>T | CA475566017 | DHCR7 | c.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 | |
11 | g.71435481G>A | CA381700852 | DHCR7 | c.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 |
11 | g.71435481G>C | CA381700857 | DHCR7 | c.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 | |
11 | g.71435481G= | CA1981486842 | DHCR7 | c.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= | |
11 | g.71435481G>T | CA381700854 | DHCR7 | c.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 | |
11 | g.71435482T>A | CA6162264 | DHCR7 | c.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 |
11 | g.71435482T>C | CA381700863 | DHCR7 | c.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 |
11 | g.71435482T>G | CA381700862 | DHCR7 | c.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 | |
11 | g.71435482T= | CA1981486843 | DHCR7 | c.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= | |
11 | g.71435483C>A | CA475566027 | DHCR7 | c.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 | |
11 | g.71435483C= | CA1981486844 | DHCR7 | c.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= | |
11 | g.71435483C>G | CA475566029 | DHCR7 | c.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 | |
11 | g.71435483C>T | CA6162265 | DHCR7 | c.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 |
11 | g.71435484A>C | CA381700869 | DHCR7 | c.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 | |
11 | g.71435484A>G | CA381700872 | DHCR7 | c.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 |
11 | g.71435484A>T | CA381700873 | DHCR7 | c.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 | |
11 | g.71435485G>A | CA475566036 | DHCR7 | c.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 |
11 | g.71435485G>C | CA381700875 | DHCR7 | c.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 |
11 | g.71435485G= | CA1981486845 | DHCR7 | c.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= | |
11 | g.71435485G>T | CA381700878 | DHCR7 | c.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 | |
11 | g.71435486C>A | CA475566045 | DHCR7 | c.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 | |
11 | g.71435486C>G | CA475566043 | DHCR7 | c.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 | |
11 | g.71435486C>T | CA475566041 | DHCR7 | c.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 | |
11 | g.71435487A>C | CA381700881 | DHCR7 | c.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 | |
11 | g.71435487A>G | CA381700884 | DHCR7 | c.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 | |
11 | g.71435487A>T | CA381700885 | DHCR7 | c.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 | |
11 | g.71435488G>A | CA475566050 | DHCR7 | c.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 |
11 | g.71435488G>C | CA381700887 | DHCR7 | c.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 | |
11 | g.71435488G>T | CA381700889 | DHCR7 | c.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 |
11 | g.71435489G>A | CA475566051 | DHCR7 | c.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 |
11 | g.71435489G>C | CA6162266 | DHCR7 | c.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 |
11 | g.71435489G= | CA1981486846 | DHCR7 | c.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= | |
11 | g.71435489G>T | CA475566052 | DHCR7 | c.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 | |
11 | g.71435490A>C | CA381700894 | DHCR7 | c.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 |
11 | g.71435490A>G | CA381700897 | DHCR7 | c.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 | |
11 | g.71435490A>T | CA381700896 | DHCR7 | c.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 | |
11 | g.71435491T>A | CA381700901 | DHCR7 | c.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 | |
11 | g.71435491T>C | CA381700903 | DHCR7 | c.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 | |
11 | g.71435491T>G | CA381700905 | DHCR7 | c.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 | |
11 | g.71435492G>A | CA475566061 | DHCR7 | c.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 | |
11 | g.71435492G>C | CA475566063 | DHCR7 | c.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 | |
11 | g.71435492G>T | CA475566065 | DHCR7 | c.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 |
11 | g.71435493G>A | CA381700908 | DHCR7 | c.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 |
11 | g.71435493G>C | CA381700911 | DHCR7 | c.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 | |
11 | g.71435493G>T | CA381700913 | DHCR7 | c.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 | |
11 | g.71435494C>A | CA381700917 | DHCR7 | c.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 | |
11 | g.71435494C= | CA1981486847 | DHCR7 | c.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= | |
11 | g.71435494C>G | CA381700919 | DHCR7 | c.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 | |
11 | g.71435494C>T | CA381700921 | DHCR7 | c.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 |
11 | g.71435495C>A | CA381700927 | DHCR7 | c.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 | |
11 | g.71435495C>G | CA381700930 | DHCR7 | c.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 | |
11 | g.71435495C>T | CA381700925 | DHCR7 | c.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 | |
11 | g.71435495_71435501delinsCATGTAG | CA1981486848 | DHCR7 | c.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 | |
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.71435496A= | CA1981486850 | DHCR7 | c.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= | |
11 | g.71435496A>C | CA381700931 | DHCR7 | c.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 | |
11 | g.71435496A>G | CA381700933 | DHCR7 | c.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 |
11 | g.71435496A>T | CA381700936 | DHCR7 | c.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 | |
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.71435497T>A | CA381700939 | DHCR7 | c.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 | |
11 | g.71435497T>C | CA381700941 | DHCR7 | c.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 |
11 | g.71435497T>G | CA381700949 | DHCR7 | c.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 | |
11 | g.71435497T= | CA1981486851 | DHCR7 | c.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= | |
11 | g.71435498G>A | CA475860931 | DHCR7 | c.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 |
11 | g.71435498G>C | CA381700952 | DHCR7 | c.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 | |
11 | g.71435498G>T | CA381700955 | DHCR7 | c.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 | |
11 | g.71435499T>A | CA381700958 | DHCR7 | c.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 | |
11 | g.71435499T>C | CA381700959 | DHCR7 | c.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 | |
11 | g.71435499T>G | CA381700962 | DHCR7 | c.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 | |
11 | g.71435500A>C | CA381700964 | DHCR7 | c.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 | |
11 | g.71435500A>G | CA381700973 | DHCR7 | c.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 | |
11 | g.71435500A>T | CA381700963 | DHCR7 | c.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 | |
11 | g.71435501G>A | CA475860932 | DHCR7 | c.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 |
11 | g.71435501G>C | CA381700977 | DHCR7 | c.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 |
11 | g.71435501G= | CA1981486852 | DHCR7 | c.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= | |
11 | g.71435501G>T | CA475860933 | DHCR7 | c.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 |
11 | g.71435502A>C | CA381700980 | DHCR7 | c.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 | |
11 | g.71435502A>G | CA381700981 | DHCR7 | c.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 | |
11 | g.71435502A>T | CA381700983 | DHCR7 | c.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 | |
11 | g.71435503T>A | CA381700988 | DHCR7 | c.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 | |
11 | g.71435503T>C | CA224324006 | DHCR7 | c.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 |
11 | g.71435503T>G | CA381700985 | DHCR7 | c.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 | |
11 | g.71435503T= | CA1981486853 | DHCR7 | c.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= | |
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 |