| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.143728173_143728184dup | CA585729883 | FAM83H | c.1285_1296dup (p.Gln432_Thr433insValSerArgGln) c.1888_1899dup (p.Gln633_Thr634insValSerArgGln) c.465_476dup c.1342_1353dup (p.Gln451_Thr452insValSerArgGln) c.1303_1314dup (p.Gln438_Thr439insValSerArgGln) c.1606_1617dup (p.Gln539_Thr540insValSerArgGln) c.1453_1464dup (p.Gln488_Thr489insValSerArgGln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728173_143728184del | CA2718465151 | FAM83H | c.1285_1296del (p.Val429_Gln432del) c.1888_1899del (p.Val630_Gln633del) c.465_476del c.1342_1353del (p.Val448_Gln451del) c.1303_1314del (p.Val435_Gln438del) c.1606_1617del (p.Val536_Gln539del) c.1453_1464del (p.Val485_Gln488del) | dbSNP |
| 8 | g.143728169C>A | CA4917476 | FAM83H | c.1292G>T (p.Arg431Leu) c.1895G>T (p.Arg632Leu) c.472G>T c.1349G>T (p.Arg450Leu) c.1310G>T (p.Arg437Leu) c.1613G>T (p.Arg538Leu) c.1460G>T (p.Arg487Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728169C= | CA1825940595 | FAM83H | c.1292G= (p.Arg431=) c.1895G= (p.Arg632=) c.472G= c.1349G= (p.Arg450=) c.1310G= (p.Arg437=) c.1613G= (p.Arg538=) c.1460G= (p.Arg487=) | |
| 8 | g.143728169C>G | CA372467669 | FAM83H | c.1292G>C (p.Arg431Pro) c.1895G>C (p.Arg632Pro) c.472G>C c.1349G>C (p.Arg450Pro) c.1310G>C (p.Arg437Pro) c.1613G>C (p.Arg538Pro) c.1460G>C (p.Arg487Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728169C>T | CA4917477 | FAM83H | c.1292G>A (p.Arg431Gln) c.1895G>A (p.Arg632Gln) c.472G>A c.1349G>A (p.Arg450Gln) c.1310G>A (p.Arg437Gln) c.1613G>A (p.Arg538Gln) c.1460G>A (p.Arg487Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728170G>A | CA372467674 | FAM83H | c.1291C>T (p.Arg431Trp) c.1894C>T (p.Arg632Trp) c.471C>T c.1348C>T (p.Arg450Trp) c.1309C>T (p.Arg437Trp) c.1612C>T (p.Arg538Trp) c.1459C>T (p.Arg487Trp) | gnomAD v4 |
| 8 | g.143728170G>C | CA372467678 | FAM83H | c.1291C>G (p.Arg431Gly) c.1894C>G (p.Arg632Gly) c.471C>G c.1348C>G (p.Arg450Gly) c.1309C>G (p.Arg437Gly) c.1612C>G (p.Arg538Gly) c.1459C>G (p.Arg487Gly) | |
| 8 | g.143728170G>T | CA463519554 | FAM83H | c.1291C>A (p.Arg431=) c.1894C>A (p.Arg632=) c.471C>A c.1348C>A (p.Arg450=) c.1309C>A (p.Arg437=) c.1612C>A (p.Arg538=) c.1459C>A (p.Arg487=) | gnomAD v4 |
| 8 | g.143728171C>A | CA463519555 | FAM83H | c.1290G>T (p.Ser430=) c.1893G>T (p.Ser631=) c.470G>T c.1347G>T (p.Ser449=) c.1308G>T (p.Ser436=) c.1611G>T (p.Ser537=) c.1458G>T (p.Ser486=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728171C= | CA1825940596 | FAM83H | c.1290G= (p.Ser430=) c.1893G= (p.Ser631=) c.470G= c.1347G= (p.Ser449=) c.1308G= (p.Ser436=) c.1611G= (p.Ser537=) c.1458G= (p.Ser486=) | |
| 8 | g.143728171C>G | CA4917479 | FAM83H | c.1290G>C (p.Ser430=) c.1893G>C (p.Ser631=) c.470G>C c.1347G>C (p.Ser449=) c.1308G>C (p.Ser436=) c.1611G>C (p.Ser537=) c.1458G>C (p.Ser486=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728171C>T | CA4917478 | FAM83H | c.1290G>A (p.Ser430=) c.1893G>A (p.Ser631=) c.470G>A c.1347G>A (p.Ser449=) c.1308G>A (p.Ser436=) c.1611G>A (p.Ser537=) c.1458G>A (p.Ser486=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.143728172G>A | CA372467685 | FAM83H | c.1289C>T (p.Ser430Leu) c.1892C>T (p.Ser631Leu) c.469C>T c.1346C>T (p.Ser449Leu) c.1307C>T (p.Ser436Leu) c.1610C>T (p.Ser537Leu) c.1457C>T (p.Ser486Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.143728172G>C | CA372467687 | FAM83H | c.1289C>G (p.Ser430Trp) c.1892C>G (p.Ser631Trp) c.469C>G c.1346C>G (p.Ser449Trp) c.1307C>G (p.Ser436Trp) c.1610C>G (p.Ser537Trp) c.1457C>G (p.Ser486Trp) | |
| 8 | g.143728172G= | CA1825940597 | FAM83H | c.1289C= (p.Ser430=) c.1892C= (p.Ser631=) c.469C= c.1346C= (p.Ser449=) c.1307C= (p.Ser436=) c.1610C= (p.Ser537=) c.1457C= (p.Ser486=) | |
| 8 | g.143728172G>T | CA372467689 | FAM83H | c.1289C>A (p.Ser430Ter) c.1892C>A (p.Ser631Ter) c.469C>A c.1346C>A (p.Ser449Ter) c.1307C>A (p.Ser436Ter) c.1610C>A (p.Ser537Ter) c.1457C>A (p.Ser486Ter) | gnomAD v4 |
| 8 | g.143728173A= | CA1825940598 | FAM83H | c.1288T= (p.Ser430=) c.1891T= (p.Ser631=) c.468T= c.1345T= (p.Ser449=) c.1306T= (p.Ser436=) c.1609T= (p.Ser537=) c.1456T= (p.Ser486=) | |
| 8 | g.143728173A>C | CA372467692 | FAM83H | c.1288T>G (p.Ser430Ala) c.1891T>G (p.Ser631Ala) c.468T>G c.1345T>G (p.Ser449Ala) c.1306T>G (p.Ser436Ala) c.1609T>G (p.Ser537Ala) c.1456T>G (p.Ser486Ala) | |
| 8 | g.143728173A>G | CA372467696 | FAM83H | c.1288T>C (p.Ser430Pro) c.1891T>C (p.Ser631Pro) c.468T>C c.1345T>C (p.Ser449Pro) c.1306T>C (p.Ser436Pro) c.1609T>C (p.Ser537Pro) c.1456T>C (p.Ser486Pro) | |
| 8 | g.143728173A>T | CA372467695 | FAM83H | c.1288T>A (p.Ser430Thr) c.1891T>A (p.Ser631Thr) c.468T>A c.1345T>A (p.Ser449Thr) c.1306T>A (p.Ser436Thr) c.1609T>A (p.Ser537Thr) c.1456T>A (p.Ser486Thr) | gnomAD v4 |
| 8 | g.143728174C>A | CA4917481 | FAM83H | c.1287G>T (p.Val429=) c.1890G>T (p.Val630=) c.467G>T c.1344G>T (p.Val448=) c.1305G>T (p.Val435=) c.1608G>T (p.Val536=) c.1455G>T (p.Val485=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728174C= | CA1825940599 | FAM83H | c.1287G= (p.Val429=) c.1890G= (p.Val630=) c.467G= c.1344G= (p.Val448=) c.1305G= (p.Val435=) c.1608G= (p.Val536=) c.1455G= (p.Val485=) | |
| 8 | g.143728174C>G | CA463519556 | FAM83H | c.1287G>C (p.Val429=) c.1890G>C (p.Val630=) c.467G>C c.1344G>C (p.Val448=) c.1305G>C (p.Val435=) c.1608G>C (p.Val536=) c.1455G>C (p.Val485=) | |
| 8 | g.143728174C>T | CA4917480 | FAM83H | c.1287G>A (p.Val429=) c.1890G>A (p.Val630=) c.467G>A c.1344G>A (p.Val448=) c.1305G>A (p.Val435=) c.1608G>A (p.Val536=) c.1455G>A (p.Val485=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728174_143728175insCC | CA585729884 | FAM83H | c.1287_1288insGG (p.Ser430GlyfsTer?) c.1890_1891insGG (p.Ser631GlyfsTer?) c.467_468insGG c.1344_1345insGG (p.Ser449GlyfsTer?) c.1305_1306insGG (p.Ser436GlyfsTer?) c.1608_1609insGG (p.Ser537GlyfsTer?) c.1455_1456insGG (p.Ser486GlyfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728175A= | CA1825940600 | FAM83H | c.1286T= (p.Val429=) c.1889T= (p.Val630=) c.466T= c.1343T= (p.Val448=) c.1304T= (p.Val435=) c.1607T= (p.Val536=) c.1454T= (p.Val485=) | |
| 8 | g.143728175A>C | CA4917482 | FAM83H | c.1286T>G (p.Val429Gly) c.1889T>G (p.Val630Gly) c.466T>G c.1343T>G (p.Val448Gly) c.1304T>G (p.Val435Gly) c.1607T>G (p.Val536Gly) c.1454T>G (p.Val485Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728175A>G | CA372467698 | FAM83H | c.1286T>C (p.Val429Ala) c.1889T>C (p.Val630Ala) c.466T>C c.1343T>C (p.Val448Ala) c.1304T>C (p.Val435Ala) c.1607T>C (p.Val536Ala) c.1454T>C (p.Val485Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728175A>T | CA372467699 | FAM83H | c.1286T>A (p.Val429Glu) c.1889T>A (p.Val630Glu) c.466T>A c.1343T>A (p.Val448Glu) c.1304T>A (p.Val435Glu) c.1607T>A (p.Val536Glu) c.1454T>A (p.Val485Glu) | |
| 8 | g.143728176C>A | CA4917483 | FAM83H | c.1285G>T (p.Val429Leu) c.1888G>T (p.Val630Leu) c.465G>T c.1342G>T (p.Val448Leu) c.1303G>T (p.Val435Leu) c.1606G>T (p.Val536Leu) c.1453G>T (p.Val485Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728176C= | CA1825940601 | FAM83H | c.1285G= (p.Val429=) c.1888G= (p.Val630=) c.465G= c.1342G= (p.Val448=) c.1303G= (p.Val435=) c.1606G= (p.Val536=) c.1453G= (p.Val485=) | |
| 8 | g.143728176C>G | CA4917484 | FAM83H | c.1285G>C (p.Val429Leu) c.1888G>C (p.Val630Leu) c.465G>C c.1342G>C (p.Val448Leu) c.1303G>C (p.Val435Leu) c.1606G>C (p.Val536Leu) c.1453G>C (p.Val485Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728176C>T | CA372467706 | FAM83H | c.1285G>A (p.Val429Met) c.1888G>A (p.Val630Met) c.465G>A c.1342G>A (p.Val448Met) c.1303G>A (p.Val435Met) c.1606G>A (p.Val536Met) c.1453G>A (p.Val485Met) | dbSNP gnomAD v2 |
| 8 | g.143728177C>A | CA372467710 | FAM83H | c.1284G>T (p.Gln428His) c.1887G>T (p.Gln629His) c.464G>T c.1341G>T (p.Gln447His) c.1302G>T (p.Gln434His) c.1605G>T (p.Gln535His) c.1452G>T (p.Gln484His) | |
| 8 | g.143728177C>G | CA372467712 | FAM83H | c.1284G>C (p.Gln428His) c.1887G>C (p.Gln629His) c.464G>C c.1341G>C (p.Gln447His) c.1302G>C (p.Gln434His) c.1605G>C (p.Gln535His) c.1452G>C (p.Gln484His) | |
| 8 | g.143728177C>T | CA463519557 | FAM83H | c.1284G>A (p.Gln428=) c.1887G>A (p.Gln629=) c.464G>A c.1341G>A (p.Gln447=) c.1302G>A (p.Gln434=) c.1605G>A (p.Gln535=) c.1452G>A (p.Gln484=) | gnomAD v4 |
| 8 | g.143728178T>A | CA372467714 | FAM83H | c.1283A>T (p.Gln428Leu) c.1886A>T (p.Gln629Leu) c.463A>T c.1340A>T (p.Gln447Leu) c.1301A>T (p.Gln434Leu) c.1604A>T (p.Gln535Leu) c.1451A>T (p.Gln484Leu) | |
| 8 | g.143728178T>C | CA372467715 | FAM83H | c.1283A>G (p.Gln428Arg) c.1886A>G (p.Gln629Arg) c.463A>G c.1340A>G (p.Gln447Arg) c.1301A>G (p.Gln434Arg) c.1604A>G (p.Gln535Arg) c.1451A>G (p.Gln484Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728178T>G | CA372467718 | FAM83H | c.1283A>C (p.Gln428Pro) c.1886A>C (p.Gln629Pro) c.463A>C c.1340A>C (p.Gln447Pro) c.1301A>C (p.Gln434Pro) c.1604A>C (p.Gln535Pro) c.1451A>C (p.Gln484Pro) | |
| 8 | g.143728178T= | CA1825940602 | FAM83H | c.1283A= (p.Gln428=) c.1886A= (p.Gln629=) c.463A= c.1340A= (p.Gln447=) c.1301A= (p.Gln434=) c.1604A= (p.Gln535=) c.1451A= (p.Gln484=) | |
| 8 | g.143728179G>A | CA372467725 | FAM83H | c.1282C>T (p.Gln428Ter) c.1885C>T (p.Gln629Ter) c.462C>T c.1339C>T (p.Gln447Ter) c.1300C>T (p.Gln434Ter) c.1603C>T (p.Gln535Ter) c.1450C>T (p.Gln484Ter) | |
| 8 | g.143728179G>C | CA372467721 | FAM83H | c.1282C>G (p.Gln428Glu) c.1885C>G (p.Gln629Glu) c.462C>G c.1339C>G (p.Gln447Glu) c.1300C>G (p.Gln434Glu) c.1603C>G (p.Gln535Glu) c.1450C>G (p.Gln484Glu) | |
| 8 | g.143728179G>T | CA372467722 | FAM83H | c.1282C>A (p.Gln428Lys) c.1885C>A (p.Gln629Lys) c.462C>A c.1339C>A (p.Gln447Lys) c.1300C>A (p.Gln434Lys) c.1603C>A (p.Gln535Lys) c.1450C>A (p.Gln484Lys) | gnomAD v4 |
| 8 | g.143728180C>A | CA463519558 | FAM83H | c.1281G>T (p.Arg427=) c.1884G>T (p.Arg628=) c.461G>T c.1338G>T (p.Arg446=) c.1299G>T (p.Arg433=) c.1602G>T (p.Arg534=) c.1449G>T (p.Arg483=) | gnomAD v4 |
| 8 | g.143728180C= | CA1825940603 | FAM83H | c.1281G= (p.Arg427=) c.1884G= (p.Arg628=) c.461G= c.1338G= (p.Arg446=) c.1299G= (p.Arg433=) c.1602G= (p.Arg534=) c.1449G= (p.Arg483=) | |
| 8 | g.143728180C>G | CA463519559 | FAM83H | c.1281G>C (p.Arg427=) c.1884G>C (p.Arg628=) c.461G>C c.1338G>C (p.Arg446=) c.1299G>C (p.Arg433=) c.1602G>C (p.Arg534=) c.1449G>C (p.Arg483=) | |
| 8 | g.143728180C>T | CA4917485 | FAM83H | c.1281G>A (p.Arg427=) c.1884G>A (p.Arg628=) c.461G>A c.1338G>A (p.Arg446=) c.1299G>A (p.Arg433=) c.1602G>A (p.Arg534=) c.1449G>A (p.Arg483=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728181C>A | CA372467730 | FAM83H | c.1280G>T (p.Arg427Leu) c.1883G>T (p.Arg628Leu) c.460G>T c.1337G>T (p.Arg446Leu) c.1298G>T (p.Arg433Leu) c.1601G>T (p.Arg534Leu) c.1448G>T (p.Arg483Leu) | |
| 8 | g.143728181C= | CA1825940604 | FAM83H | c.1280G= (p.Arg427=) c.1883G= (p.Arg628=) c.460G= c.1337G= (p.Arg446=) c.1298G= (p.Arg433=) c.1601G= (p.Arg534=) c.1448G= (p.Arg483=) | |
| 8 | g.143728181C>G | CA372467733 | FAM83H | c.1280G>C (p.Arg427Pro) c.1883G>C (p.Arg628Pro) c.460G>C c.1337G>C (p.Arg446Pro) c.1298G>C (p.Arg433Pro) c.1601G>C (p.Arg534Pro) c.1448G>C (p.Arg483Pro) | gnomAD v4 |
| 8 | g.143728181C>T | CA4917486 | FAM83H | c.1280G>A (p.Arg427Gln) c.1883G>A (p.Arg628Gln) c.460G>A c.1337G>A (p.Arg446Gln) c.1298G>A (p.Arg433Gln) c.1601G>A (p.Arg534Gln) c.1448G>A (p.Arg483Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728182G>A | CA372467736 | FAM83H | c.1279C>T (p.Arg427Trp) c.1882C>T (p.Arg628Trp) c.459C>T c.1336C>T (p.Arg446Trp) c.1297C>T (p.Arg433Trp) c.1600C>T (p.Arg534Trp) c.1447C>T (p.Arg483Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728182G>C | CA4917487 | FAM83H | c.1279C>G (p.Arg427Gly) c.1882C>G (p.Arg628Gly) c.459C>G c.1336C>G (p.Arg446Gly) c.1297C>G (p.Arg433Gly) c.1600C>G (p.Arg534Gly) c.1447C>G (p.Arg483Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728182G= | CA1825940605 | FAM83H | c.1279C= (p.Arg427=) c.1882C= (p.Arg628=) c.459C= c.1336C= (p.Arg446=) c.1297C= (p.Arg433=) c.1600C= (p.Arg534=) c.1447C= (p.Arg483=) | |
| 8 | g.143728182G>T | CA463519560 | FAM83H | c.1279C>A (p.Arg427=) c.1882C>A (p.Arg628=) c.459C>A c.1336C>A (p.Arg446=) c.1297C>A (p.Arg433=) c.1600C>A (p.Arg534=) c.1447C>A (p.Arg483=) | gnomAD v4 |
| 8 | g.143728183C>A | CA463519561 | FAM83H | c.1278G>T (p.Ala426=) c.1881G>T (p.Ala627=) c.458G>T c.1335G>T (p.Ala445=) c.1296G>T (p.Ala432=) c.1599G>T (p.Ala533=) c.1446G>T (p.Ala482=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728183C= | CA1825940606 | FAM83H | c.1278G= (p.Ala426=) c.1881G= (p.Ala627=) c.458G= c.1335G= (p.Ala445=) c.1296G= (p.Ala432=) c.1599G= (p.Ala533=) c.1446G= (p.Ala482=) | |
| 8 | g.143728183C>G | CA463519562 | FAM83H | c.1278G>C (p.Ala426=) c.1881G>C (p.Ala627=) c.458G>C c.1335G>C (p.Ala445=) c.1296G>C (p.Ala432=) c.1599G>C (p.Ala533=) c.1446G>C (p.Ala482=) | |
| 8 | g.143728183C>T | CA463519563 | FAM83H | c.1278G>A (p.Ala426=) c.1881G>A (p.Ala627=) c.458G>A c.1335G>A (p.Ala445=) c.1296G>A (p.Ala432=) c.1599G>A (p.Ala533=) c.1446G>A (p.Ala482=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728184G>A | CA372467739 | FAM83H | c.1277C>T (p.Ala426Val) c.1880C>T (p.Ala627Val) c.457C>T c.1334C>T (p.Ala445Val) c.1295C>T (p.Ala432Val) c.1598C>T (p.Ala533Val) c.1445C>T (p.Ala482Val) | dbSNP |
| 8 | g.143728184G>C | CA372467741 | FAM83H | c.1277C>G (p.Ala426Gly) c.1880C>G (p.Ala627Gly) c.457C>G c.1334C>G (p.Ala445Gly) c.1295C>G (p.Ala432Gly) c.1598C>G (p.Ala533Gly) c.1445C>G (p.Ala482Gly) | |
| 8 | g.143728184G>T | CA372467742 | FAM83H | c.1277C>A (p.Ala426Glu) c.1880C>A (p.Ala627Glu) c.457C>A c.1334C>A (p.Ala445Glu) c.1295C>A (p.Ala432Glu) c.1598C>A (p.Ala533Glu) c.1445C>A (p.Ala482Glu) | |
| 8 | g.143728185C>A | CA372467745 | FAM83H | c.1276G>T (p.Ala426Ser) c.1879G>T (p.Ala627Ser) c.456G>T c.1333G>T (p.Ala445Ser) c.1294G>T (p.Ala432Ser) c.1597G>T (p.Ala533Ser) c.1444G>T (p.Ala482Ser) | |
| 8 | g.143728185C>G | CA372467747 | FAM83H | c.1276G>C (p.Ala426Pro) c.1879G>C (p.Ala627Pro) c.456G>C c.1333G>C (p.Ala445Pro) c.1294G>C (p.Ala432Pro) c.1597G>C (p.Ala533Pro) c.1444G>C (p.Ala482Pro) | |
| 8 | g.143728185C>T | CA372467749 | FAM83H | c.1276G>A (p.Ala426Thr) c.1879G>A (p.Ala627Thr) c.456G>A c.1333G>A (p.Ala445Thr) c.1294G>A (p.Ala432Thr) c.1597G>A (p.Ala533Thr) c.1444G>A (p.Ala482Thr) | gnomAD v4 |
| 8 | g.143728186G>A | CA463519564 | FAM83H | c.1275C>T (p.Ala425=) c.1878C>T (p.Ala626=) c.455C>T c.1332C>T (p.Ala444=) c.1293C>T (p.Ala431=) c.1596C>T (p.Ala532=) c.1443C>T (p.Ala481=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728186G>C | CA463519565 | FAM83H | c.1275C>G (p.Ala425=) c.1878C>G (p.Ala626=) c.455C>G c.1332C>G (p.Ala444=) c.1293C>G (p.Ala431=) c.1596C>G (p.Ala532=) c.1443C>G (p.Ala481=) | |
| 8 | g.143728186G= | CA1825940607 | FAM83H | c.1275C= (p.Ala425=) c.1878C= (p.Ala626=) c.455C= c.1332C= (p.Ala444=) c.1293C= (p.Ala431=) c.1596C= (p.Ala532=) c.1443C= (p.Ala481=) | |
| 8 | g.143728186G>T | CA463519566 | FAM83H | c.1275C>A (p.Ala425=) c.1878C>A (p.Ala626=) c.455C>A c.1332C>A (p.Ala444=) c.1293C>A (p.Ala431=) c.1596C>A (p.Ala532=) c.1443C>A (p.Ala481=) | gnomAD v4 |
| 8 | g.143728187G>A | CA4917488 | FAM83H | c.1274C>T (p.Ala425Val) c.1877C>T (p.Ala626Val) c.454C>T c.1331C>T (p.Ala444Val) c.1292C>T (p.Ala431Val) c.1595C>T (p.Ala532Val) c.1442C>T (p.Ala481Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728187G>C | CA372467755 | FAM83H | c.1274C>G (p.Ala425Gly) c.1877C>G (p.Ala626Gly) c.454C>G c.1331C>G (p.Ala444Gly) c.1292C>G (p.Ala431Gly) c.1595C>G (p.Ala532Gly) c.1442C>G (p.Ala481Gly) | |
| 8 | g.143728187G= | CA1825940608 | FAM83H | c.1274C= (p.Ala425=) c.1877C= (p.Ala626=) c.454C= c.1331C= (p.Ala444=) c.1292C= (p.Ala431=) c.1595C= (p.Ala532=) c.1442C= (p.Ala481=) | |
| 8 | g.143728187G>T | CA372467753 | FAM83H | c.1274C>A (p.Ala425Asp) c.1877C>A (p.Ala626Asp) c.454C>A c.1331C>A (p.Ala444Asp) c.1292C>A (p.Ala431Asp) c.1595C>A (p.Ala532Asp) c.1442C>A (p.Ala481Asp) | gnomAD v4 |
| 8 | g.143728188C>A | CA372467758 | FAM83H | c.1273G>T (p.Ala425Ser) c.1876G>T (p.Ala626Ser) c.453G>T c.1330G>T (p.Ala444Ser) c.1291G>T (p.Ala431Ser) c.1594G>T (p.Ala532Ser) c.1441G>T (p.Ala481Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728188C= | CA1825940609 | FAM83H | c.1273G= (p.Ala425=) c.1876G= (p.Ala626=) c.453G= c.1330G= (p.Ala444=) c.1291G= (p.Ala431=) c.1594G= (p.Ala532=) c.1441G= (p.Ala481=) | |
| 8 | g.143728188C>G | CA372467762 | FAM83H | c.1273G>C (p.Ala425Pro) c.1876G>C (p.Ala626Pro) c.453G>C c.1330G>C (p.Ala444Pro) c.1291G>C (p.Ala431Pro) c.1594G>C (p.Ala532Pro) c.1441G>C (p.Ala481Pro) | |
| 8 | g.143728188C>T | CA372467760 | FAM83H | c.1273G>A (p.Ala425Thr) c.1876G>A (p.Ala626Thr) c.453G>A c.1330G>A (p.Ala444Thr) c.1291G>A (p.Ala431Thr) c.1594G>A (p.Ala532Thr) c.1441G>A (p.Ala481Thr) | gnomAD v4 |
| 8 | g.143728189C>A | CA4917490 | FAM83H | c.1272G>T (p.Ala424=) c.1875G>T (p.Ala625=) c.452G>T c.1329G>T (p.Ala443=) c.1290G>T (p.Ala430=) c.1593G>T (p.Ala531=) c.1440G>T (p.Ala480=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728189C= | CA1825940610 | FAM83H | c.1272G= (p.Ala424=) c.1875G= (p.Ala625=) c.452G= c.1329G= (p.Ala443=) c.1290G= (p.Ala430=) c.1593G= (p.Ala531=) c.1440G= (p.Ala480=) | |
| 8 | g.143728189C>G | CA463519699 | FAM83H | c.1272G>C (p.Ala424=) c.1875G>C (p.Ala625=) c.452G>C c.1329G>C (p.Ala443=) c.1290G>C (p.Ala430=) c.1593G>C (p.Ala531=) c.1440G>C (p.Ala480=) | gnomAD v4 |
| 8 | g.143728189C>T | CA4917489 | FAM83H | c.1272G>A (p.Ala424=) c.1875G>A (p.Ala625=) c.452G>A c.1329G>A (p.Ala443=) c.1290G>A (p.Ala430=) c.1593G>A (p.Ala531=) c.1440G>A (p.Ala480=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728196_143728228dup | CA2688980693 | FAM83H | c.1240_1272dup (p.Ala424_Ala425insThrGluGlyAlaGlyAlaValGluAsnPheAla) c.1843_1875dup (p.Ala625_Ala626insThrGluGlyAlaGlyAlaValGluAsnPheAla) c.420_452dup c.1297_1329dup (p.Ala443_Ala444insThrGluGlyAlaGlyAlaValGluAsnPheAla) c.1258_1290dup (p.Ala430_Ala431insThrGluGlyAlaGlyAlaValGluAsnPheAla) c.1561_1593dup (p.Ala531_Ala532insThrGluGlyAlaGlyAlaValGluAsnPheAla) c.1408_1440dup (p.Ala480_Ala481insThrGluGlyAlaGlyAlaValGluAsnPheAla) | gnomAD v4 |
| 8 | g.143728190G>A | CA372467768 | FAM83H | c.1271C>T (p.Ala424Val) c.1874C>T (p.Ala625Val) c.451C>T c.1328C>T (p.Ala443Val) c.1289C>T (p.Ala430Val) c.1592C>T (p.Ala531Val) c.1439C>T (p.Ala480Val) | gnomAD v4 COSMIC |
| 8 | g.143728190G>C | CA372467770 | FAM83H | c.1271C>G (p.Ala424Gly) c.1874C>G (p.Ala625Gly) c.451C>G c.1328C>G (p.Ala443Gly) c.1289C>G (p.Ala430Gly) c.1592C>G (p.Ala531Gly) c.1439C>G (p.Ala480Gly) | |
| 8 | g.143728190G>T | CA372467773 | FAM83H | c.1271C>A (p.Ala424Glu) c.1874C>A (p.Ala625Glu) c.451C>A c.1328C>A (p.Ala443Glu) c.1289C>A (p.Ala430Glu) c.1592C>A (p.Ala531Glu) c.1439C>A (p.Ala480Glu) | gnomAD v4 |
| 8 | g.143728191C>A | CA372467776 | FAM83H | c.1270G>T (p.Ala424Ser) c.1873G>T (p.Ala625Ser) c.450G>T c.1327G>T (p.Ala443Ser) c.1288G>T (p.Ala430Ser) c.1591G>T (p.Ala531Ser) c.1438G>T (p.Ala480Ser) | |
| 8 | g.143728191C= | CA1825940611 | FAM83H | c.1270G= (p.Ala424=) c.1873G= (p.Ala625=) c.450G= c.1327G= (p.Ala443=) c.1288G= (p.Ala430=) c.1591G= (p.Ala531=) c.1438G= (p.Ala480=) | |
| 8 | g.143728191C>G | CA372467778 | FAM83H | c.1270G>C (p.Ala424Pro) c.1873G>C (p.Ala625Pro) c.450G>C c.1327G>C (p.Ala443Pro) c.1288G>C (p.Ala430Pro) c.1591G>C (p.Ala531Pro) c.1438G>C (p.Ala480Pro) | |
| 8 | g.143728191C>T | CA372467780 | FAM83H | c.1270G>A (p.Ala424Thr) c.1873G>A (p.Ala625Thr) c.450G>A c.1327G>A (p.Ala443Thr) c.1288G>A (p.Ala430Thr) c.1591G>A (p.Ala531Thr) c.1438G>A (p.Ala480Thr) | dbSNP |
| 8 | g.143728192G>A | CA463519708 | FAM83H | c.1269C>T (p.Phe423=) c.1872C>T (p.Phe624=) c.449C>T c.1326C>T (p.Phe442=) c.1287C>T (p.Phe429=) c.1590C>T (p.Phe530=) c.1437C>T (p.Phe479=) | dbSNP gnomAD v4 |
| 8 | g.143728192G>C | CA4917491 | FAM83H | c.1269C>G (p.Phe423Leu) c.1872C>G (p.Phe624Leu) c.449C>G c.1326C>G (p.Phe442Leu) c.1287C>G (p.Phe429Leu) c.1590C>G (p.Phe530Leu) c.1437C>G (p.Phe479Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728192G= | CA1825940612 | FAM83H | c.1269C= (p.Phe423=) c.1872C= (p.Phe624=) c.449C= c.1326C= (p.Phe442=) c.1287C= (p.Phe429=) c.1590C= (p.Phe530=) c.1437C= (p.Phe479=) | |
| 8 | g.143728192G>T | CA4917492 | FAM83H | c.1269C>A (p.Phe423Leu) c.1872C>A (p.Phe624Leu) c.449C>A c.1326C>A (p.Phe442Leu) c.1287C>A (p.Phe429Leu) c.1590C>A (p.Phe530Leu) c.1437C>A (p.Phe479Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728193A>C | CA372467785 | FAM83H | c.1268T>G (p.Phe423Cys) c.1871T>G (p.Phe624Cys) c.448T>G c.1325T>G (p.Phe442Cys) c.1286T>G (p.Phe429Cys) c.1589T>G (p.Phe530Cys) c.1436T>G (p.Phe479Cys) | |
| 8 | g.143728193A>G | CA372467786 | FAM83H | c.1268T>C (p.Phe423Ser) c.1871T>C (p.Phe624Ser) c.448T>C c.1325T>C (p.Phe442Ser) c.1286T>C (p.Phe429Ser) c.1589T>C (p.Phe530Ser) c.1436T>C (p.Phe479Ser) | |
| 8 | g.143728193A>T | CA372467788 | FAM83H | c.1268T>A (p.Phe423Tyr) c.1871T>A (p.Phe624Tyr) c.448T>A c.1325T>A (p.Phe442Tyr) c.1286T>A (p.Phe429Tyr) c.1589T>A (p.Phe530Tyr) c.1436T>A (p.Phe479Tyr) | |
| 8 | g.143728194A= | CA1825940613 | FAM83H | c.1267T= (p.Phe423=) c.1870T= (p.Phe624=) c.447T= c.1324T= (p.Phe442=) c.1285T= (p.Phe429=) c.1588T= (p.Phe530=) c.1435T= (p.Phe479=) | |
| 8 | g.143728194A>C | CA372467794 | FAM83H | c.1267T>G (p.Phe423Val) c.1870T>G (p.Phe624Val) c.447T>G c.1324T>G (p.Phe442Val) c.1285T>G (p.Phe429Val) c.1588T>G (p.Phe530Val) c.1435T>G (p.Phe479Val) | dbSNP gnomAD v2 |
| 8 | g.143728194A>G | CA4917493 | FAM83H | c.1267T>C (p.Phe423Leu) c.1870T>C (p.Phe624Leu) c.447T>C c.1324T>C (p.Phe442Leu) c.1285T>C (p.Phe429Leu) c.1588T>C (p.Phe530Leu) c.1435T>C (p.Phe479Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728194A>T | CA372467791 | FAM83H | c.1267T>A (p.Phe423Ile) c.1870T>A (p.Phe624Ile) c.447T>A c.1324T>A (p.Phe442Ile) c.1285T>A (p.Phe429Ile) c.1588T>A (p.Phe530Ile) c.1435T>A (p.Phe479Ile) | |
| 8 | g.143728195G>A | CA463519717 | FAM83H | c.1266C>T (p.Asn422=) c.1869C>T (p.Asn623=) c.446C>T c.1323C>T (p.Asn441=) c.1284C>T (p.Asn428=) c.1587C>T (p.Asn529=) c.1434C>T (p.Asn478=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728195G>C | CA372467797 | FAM83H | c.1266C>G (p.Asn422Lys) c.1869C>G (p.Asn623Lys) c.446C>G c.1323C>G (p.Asn441Lys) c.1284C>G (p.Asn428Lys) c.1587C>G (p.Asn529Lys) c.1434C>G (p.Asn478Lys) | |
| 8 | g.143728195G= | CA1825940614 | FAM83H | c.1266C= (p.Asn422=) c.1869C= (p.Asn623=) c.446C= c.1323C= (p.Asn441=) c.1284C= (p.Asn428=) c.1587C= (p.Asn529=) c.1434C= (p.Asn478=) | |
| 8 | g.143728195G>T | CA372467799 | FAM83H | c.1266C>A (p.Asn422Lys) c.1869C>A (p.Asn623Lys) c.446C>A c.1323C>A (p.Asn441Lys) c.1284C>A (p.Asn428Lys) c.1587C>A (p.Asn529Lys) c.1434C>A (p.Asn478Lys) | gnomAD v4 |
| 8 | g.143728196T>A | CA372467801 | FAM83H | c.1265A>T (p.Asn422Ile) c.1868A>T (p.Asn623Ile) c.445A>T c.1322A>T (p.Asn441Ile) c.1283A>T (p.Asn428Ile) c.1586A>T (p.Asn529Ile) c.1433A>T (p.Asn478Ile) | |
| 8 | g.143728196T>C | CA4917494 | FAM83H | c.1265A>G (p.Asn422Ser) c.1868A>G (p.Asn623Ser) c.445A>G c.1322A>G (p.Asn441Ser) c.1283A>G (p.Asn428Ser) c.1586A>G (p.Asn529Ser) c.1433A>G (p.Asn478Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728196T>G | CA372467803 | FAM83H | c.1265A>C (p.Asn422Thr) c.1868A>C (p.Asn623Thr) c.445A>C c.1322A>C (p.Asn441Thr) c.1283A>C (p.Asn428Thr) c.1586A>C (p.Asn529Thr) c.1433A>C (p.Asn478Thr) | |
| 8 | g.143728196T= | CA1825940615 | FAM83H | c.1265A= (p.Asn422=) c.1868A= (p.Asn623=) c.445A= c.1322A= (p.Asn441=) c.1283A= (p.Asn428=) c.1586A= (p.Asn529=) c.1433A= (p.Asn478=) | |
| 8 | g.143728197T>A | CA372467806 | FAM83H | c.1264A>T (p.Asn422Tyr) c.1867A>T (p.Asn623Tyr) c.444A>T c.1321A>T (p.Asn441Tyr) c.1282A>T (p.Asn428Tyr) c.1585A>T (p.Asn529Tyr) c.1432A>T (p.Asn478Tyr) | |
| 8 | g.143728197T>C | CA372467808 | FAM83H | c.1264A>G (p.Asn422Asp) c.1867A>G (p.Asn623Asp) c.444A>G c.1321A>G (p.Asn441Asp) c.1282A>G (p.Asn428Asp) c.1585A>G (p.Asn529Asp) c.1432A>G (p.Asn478Asp) | |
| 8 | g.143728197T>G | CA372467810 | FAM83H | c.1264A>C (p.Asn422His) c.1867A>C (p.Asn623His) c.444A>C c.1321A>C (p.Asn441His) c.1282A>C (p.Asn428His) c.1585A>C (p.Asn529His) c.1432A>C (p.Asn478His) | |
| 8 | g.143728198C>A | CA372467813 | FAM83H | c.1263G>T (p.Glu421Asp) c.1866G>T (p.Glu622Asp) c.443G>T c.1320G>T (p.Glu440Asp) c.1281G>T (p.Glu427Asp) c.1584G>T (p.Glu528Asp) c.1431G>T (p.Glu477Asp) | |
| 8 | g.143728198C>G | CA372467815 | FAM83H | c.1263G>C (p.Glu421Asp) c.1866G>C (p.Glu622Asp) c.443G>C c.1320G>C (p.Glu440Asp) c.1281G>C (p.Glu427Asp) c.1584G>C (p.Glu528Asp) c.1431G>C (p.Glu477Asp) | |
| 8 | g.143728198C>T | CA463519724 | FAM83H | c.1263G>A (p.Glu421=) c.1866G>A (p.Glu622=) c.443G>A c.1320G>A (p.Glu440=) c.1281G>A (p.Glu427=) c.1584G>A (p.Glu528=) c.1431G>A (p.Glu477=) | |
| 8 | g.143728199T>A | CA372467816 | FAM83H | c.1262A>T (p.Glu421Val) c.1865A>T (p.Glu622Val) c.442A>T c.1319A>T (p.Glu440Val) c.1280A>T (p.Glu427Val) c.1583A>T (p.Glu528Val) c.1430A>T (p.Glu477Val) | |
| 8 | g.143728199T>C | CA372467818 | FAM83H | c.1262A>G (p.Glu421Gly) c.1865A>G (p.Glu622Gly) c.442A>G c.1319A>G (p.Glu440Gly) c.1280A>G (p.Glu427Gly) c.1583A>G (p.Glu528Gly) c.1430A>G (p.Glu477Gly) | |
| 8 | g.143728199T>G | CA372467820 | FAM83H | c.1262A>C (p.Glu421Ala) c.1865A>C (p.Glu622Ala) c.442A>C c.1319A>C (p.Glu440Ala) c.1280A>C (p.Glu427Ala) c.1583A>C (p.Glu528Ala) c.1430A>C (p.Glu477Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728199T= | CA1825940616 | FAM83H | c.1262A= (p.Glu421=) c.1865A= (p.Glu622=) c.442A= c.1319A= (p.Glu440=) c.1280A= (p.Glu427=) c.1583A= (p.Glu528=) c.1430A= (p.Glu477=) | |
| 8 | g.143728200C>A | CA372467825 | FAM83H | c.1261G>T (p.Glu421Ter) c.1864G>T (p.Glu622Ter) c.441G>T c.1318G>T (p.Glu440Ter) c.1279G>T (p.Glu427Ter) c.1582G>T (p.Glu528Ter) c.1429G>T (p.Glu477Ter) | gnomAD v4 |
| 8 | g.143728200C= | CA1825940617 | FAM83H | c.1261G= (p.Glu421=) c.1864G= (p.Glu622=) c.441G= c.1318G= (p.Glu440=) c.1279G= (p.Glu427=) c.1582G= (p.Glu528=) c.1429G= (p.Glu477=) | |
| 8 | g.143728200C>G | CA372467827 | FAM83H | c.1261G>C (p.Glu421Gln) c.1864G>C (p.Glu622Gln) c.441G>C c.1318G>C (p.Glu440Gln) c.1279G>C (p.Glu427Gln) c.1582G>C (p.Glu528Gln) c.1429G>C (p.Glu477Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728200C>T | CA372467823 | FAM83H | c.1261G>A (p.Glu421Lys) c.1864G>A (p.Glu622Lys) c.441G>A c.1318G>A (p.Glu440Lys) c.1279G>A (p.Glu427Lys) c.1582G>A (p.Glu528Lys) c.1429G>A (p.Glu477Lys) | gnomAD v4 |
| 8 | g.143728201C>A | CA463519742 | FAM83H | c.1260G>T (p.Val420=) c.1863G>T (p.Val621=) c.440G>T c.1317G>T (p.Val439=) c.1278G>T (p.Val426=) c.1581G>T (p.Val527=) c.1428G>T (p.Val476=) | |
| 8 | g.143728201C>G | CA463519736 | FAM83H | c.1260G>C (p.Val420=) c.1863G>C (p.Val621=) c.440G>C c.1317G>C (p.Val439=) c.1278G>C (p.Val426=) c.1581G>C (p.Val527=) c.1428G>C (p.Val476=) | |
| 8 | g.143728201C>T | CA463519740 | FAM83H | c.1260G>A (p.Val420=) c.1863G>A (p.Val621=) c.440G>A c.1317G>A (p.Val439=) c.1278G>A (p.Val426=) c.1581G>A (p.Val527=) c.1428G>A (p.Val476=) | gnomAD v4 |
| 8 | g.143728202A>C | CA372467828 | FAM83H | c.1259T>G (p.Val420Gly) c.1862T>G (p.Val621Gly) c.439T>G c.1316T>G (p.Val439Gly) c.1277T>G (p.Val426Gly) c.1580T>G (p.Val527Gly) c.1427T>G (p.Val476Gly) | |
| 8 | g.143728202A>G | CA372467831 | FAM83H | c.1259T>C (p.Val420Ala) c.1862T>C (p.Val621Ala) c.439T>C c.1316T>C (p.Val439Ala) c.1277T>C (p.Val426Ala) c.1580T>C (p.Val527Ala) c.1427T>C (p.Val476Ala) | |
| 8 | g.143728202A>T | CA372467833 | FAM83H | c.1259T>A (p.Val420Glu) c.1862T>A (p.Val621Glu) c.439T>A c.1316T>A (p.Val439Glu) c.1277T>A (p.Val426Glu) c.1580T>A (p.Val527Glu) c.1427T>A (p.Val476Glu) | |
| 8 | g.143728203C>A | CA372467835 | FAM83H | c.1258G>T (p.Val420Leu) c.1861G>T (p.Val621Leu) c.438G>T c.1315G>T (p.Val439Leu) c.1276G>T (p.Val426Leu) c.1579G>T (p.Val527Leu) c.1426G>T (p.Val476Leu) | |
| 8 | g.143728203C= | CA1825940618 | FAM83H | c.1258G= (p.Val420=) c.1861G= (p.Val621=) c.438G= c.1315G= (p.Val439=) c.1276G= (p.Val426=) c.1579G= (p.Val527=) c.1426G= (p.Val476=) | |
| 8 | g.143728203C>G | CA372467838 | FAM83H | c.1258G>C (p.Val420Leu) c.1861G>C (p.Val621Leu) c.438G>C c.1315G>C (p.Val439Leu) c.1276G>C (p.Val426Leu) c.1579G>C (p.Val527Leu) c.1426G>C (p.Val476Leu) | |
| 8 | g.143728203C>T | CA372467840 | FAM83H | c.1258G>A (p.Val420Met) c.1861G>A (p.Val621Met) c.438G>A c.1315G>A (p.Val439Met) c.1276G>A (p.Val426Met) c.1579G>A (p.Val527Met) c.1426G>A (p.Val476Met) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728204G>A | CA4917495 | FAM83H | c.1257C>T (p.Ala419=) c.1860C>T (p.Ala620=) c.437C>T c.1314C>T (p.Ala438=) c.1275C>T (p.Ala425=) c.1578C>T (p.Ala526=) c.1425C>T (p.Ala475=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728204G>C | CA463519750 | FAM83H | c.1257C>G (p.Ala419=) c.1860C>G (p.Ala620=) c.437C>G c.1314C>G (p.Ala438=) c.1275C>G (p.Ala425=) c.1578C>G (p.Ala526=) c.1425C>G (p.Ala475=) | gnomAD v4 |
| 8 | g.143728204G= | CA1825940619 | FAM83H | c.1257C= (p.Ala419=) c.1860C= (p.Ala620=) c.437C= c.1314C= (p.Ala438=) c.1275C= (p.Ala425=) c.1578C= (p.Ala526=) c.1425C= (p.Ala475=) | |
| 8 | g.143728204G>T | CA4917497 | FAM83H | c.1257C>A (p.Ala419=) c.1860C>A (p.Ala620=) c.437C>A c.1314C>A (p.Ala438=) c.1275C>A (p.Ala425=) c.1578C>A (p.Ala526=) c.1425C>A (p.Ala475=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728204_143728210delinsGGCGCCC | CA1825940620 | FAM83H | c.1251_1257delinsGGGCGCC (p.Ala417=) c.1854_1860delinsGGGCGCC (p.Ala618=) c.431_437delinsGGGCGCC c.1308_1314delinsGGGCGCC (p.Ala436=) c.1269_1275delinsGGGCGCC (p.Ala423=) c.1572_1578delinsGGGCGCC (p.Ala524=) c.1419_1425delinsGGGCGCC (p.Ala473=) | |
| 8 | g.143728205G>A | CA372467845 | FAM83H | c.1256C>T (p.Ala419Val) c.1859C>T (p.Ala620Val) c.436C>T c.1313C>T (p.Ala438Val) c.1274C>T (p.Ala425Val) c.1577C>T (p.Ala526Val) c.1424C>T (p.Ala475Val) | |
| 8 | g.143728205G>C | CA372467846 | FAM83H | c.1256C>G (p.Ala419Gly) c.1859C>G (p.Ala620Gly) c.436C>G c.1313C>G (p.Ala438Gly) c.1274C>G (p.Ala425Gly) c.1577C>G (p.Ala526Gly) c.1424C>G (p.Ala475Gly) | gnomAD v4 |
| 8 | g.143728205G>T | CA372467848 | FAM83H | c.1256C>A (p.Ala419Asp) c.1859C>A (p.Ala620Asp) c.436C>A c.1313C>A (p.Ala438Asp) c.1274C>A (p.Ala425Asp) c.1577C>A (p.Ala526Asp) c.1424C>A (p.Ala475Asp) | |
| 8 | g.143728211_143728216dup | CA848794518 | FAM83H | c.1251_1256dup (p.Ala419_Val420insGlyAla) c.1854_1859dup (p.Ala620_Val621insGlyAla) c.431_436dup c.1308_1313dup (p.Ala438_Val439insGlyAla) c.1269_1274dup (p.Ala425_Val426insGlyAla) c.1572_1577dup (p.Ala526_Val527insGlyAla) c.1419_1424dup (p.Ala475_Val476insGlyAla) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728211_143728216del | CA4917496 | FAM83H | c.1251_1256del (p.Gly418_Ala419del) c.1854_1859del (p.Gly619_Ala620del) c.431_436del c.1308_1313del (p.Gly437_Ala438del) c.1269_1274del (p.Gly424_Ala425del) c.1572_1577del (p.Gly525_Ala526del) c.1419_1424del (p.Gly474_Ala475del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728214_143728291del | CA1120207102 | FAM83H | c.1179_1256del (p.Arg394_Ala419del) c.1782_1859del (p.Arg595_Ala620del) c.359_436del c.1236_1313del (p.Arg413_Ala438del) c.1197_1274del (p.Arg400_Ala425del) c.1500_1577del (p.Arg501_Ala526del) c.1347_1424del (p.Arg450_Ala475del) | gnomAD v3 gnomAD v4 |
| 8 | g.143728206C>A | CA4917498 | FAM83H | c.1255G>T (p.Ala419Ser) c.1858G>T (p.Ala620Ser) c.435G>T c.1312G>T (p.Ala438Ser) c.1273G>T (p.Ala425Ser) c.1576G>T (p.Ala526Ser) c.1423G>T (p.Ala475Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728206C= | CA1825940621 | FAM83H | c.1255G= (p.Ala419=) c.1858G= (p.Ala620=) c.435G= c.1312G= (p.Ala438=) c.1273G= (p.Ala425=) c.1576G= (p.Ala526=) c.1423G= (p.Ala475=) | |
| 8 | g.143728206C>G | CA372467850 | FAM83H | c.1255G>C (p.Ala419Pro) c.1858G>C (p.Ala620Pro) c.435G>C c.1312G>C (p.Ala438Pro) c.1273G>C (p.Ala425Pro) c.1576G>C (p.Ala526Pro) c.1423G>C (p.Ala475Pro) | |
| 8 | g.143728206C>T | CA372467852 | FAM83H | c.1255G>A (p.Ala419Thr) c.1858G>A (p.Ala620Thr) c.435G>A c.1312G>A (p.Ala438Thr) c.1273G>A (p.Ala425Thr) c.1576G>A (p.Ala526Thr) c.1423G>A (p.Ala475Thr) | gnomAD v4 |
| 8 | g.143728207G>A | CA4917499 | FAM83H | c.1254C>T (p.Gly418=) c.1857C>T (p.Gly619=) c.434C>T c.1311C>T (p.Gly437=) c.1272C>T (p.Gly424=) c.1575C>T (p.Gly525=) c.1422C>T (p.Gly474=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728207G>C | CA463519755 | FAM83H | c.1254C>G (p.Gly418=) c.1857C>G (p.Gly619=) c.434C>G c.1311C>G (p.Gly437=) c.1272C>G (p.Gly424=) c.1575C>G (p.Gly525=) c.1422C>G (p.Gly474=) | |
| 8 | g.143728207G= | CA1825940622 | FAM83H | c.1254C= (p.Gly418=) c.1857C= (p.Gly619=) c.434C= c.1311C= (p.Gly437=) c.1272C= (p.Gly424=) c.1575C= (p.Gly525=) c.1422C= (p.Gly474=) | |
| 8 | g.143728207G>T | CA463519757 | FAM83H | c.1254C>A (p.Gly418=) c.1857C>A (p.Gly619=) c.434C>A c.1311C>A (p.Gly437=) c.1272C>A (p.Gly424=) c.1575C>A (p.Gly525=) c.1422C>A (p.Gly474=) | gnomAD v4 |
| 8 | g.143728208C>A | CA372467857 | FAM83H | c.1253G>T (p.Gly418Val) c.1856G>T (p.Gly619Val) c.433G>T c.1310G>T (p.Gly437Val) c.1271G>T (p.Gly424Val) c.1574G>T (p.Gly525Val) c.1421G>T (p.Gly474Val) | |
| 8 | g.143728208C>G | CA372467859 | FAM83H | c.1253G>C (p.Gly418Ala) c.1856G>C (p.Gly619Ala) c.433G>C c.1310G>C (p.Gly437Ala) c.1271G>C (p.Gly424Ala) c.1574G>C (p.Gly525Ala) c.1421G>C (p.Gly474Ala) | |
| 8 | g.143728208C>T | CA372467861 | FAM83H | c.1253G>A (p.Gly418Asp) c.1856G>A (p.Gly619Asp) c.433G>A c.1310G>A (p.Gly437Asp) c.1271G>A (p.Gly424Asp) c.1574G>A (p.Gly525Asp) c.1421G>A (p.Gly474Asp) | gnomAD v4 |
| 8 | g.143728210dup | CA2740991149 | FAM83H | c.1253dup (p.Ala419ArgfsTer?) c.1856dup (p.Ala620ArgfsTer?) c.433dup c.1310dup (p.Ala438ArgfsTer?) c.1271dup (p.Ala425ArgfsTer?) c.1574dup (p.Ala526ArgfsTer?) c.1421dup (p.Ala475ArgfsTer?) | |
| 8 | g.143728209C>A | CA372467863 | FAM83H | c.1252G>T (p.Gly418Cys) c.1855G>T (p.Gly619Cys) c.432G>T c.1309G>T (p.Gly437Cys) c.1270G>T (p.Gly424Cys) c.1573G>T (p.Gly525Cys) c.1420G>T (p.Gly474Cys) | |
| 8 | g.143728209C= | CA1825940623 | FAM83H | c.1252G= (p.Gly418=) c.1855G= (p.Gly619=) c.432G= c.1309G= (p.Gly437=) c.1270G= (p.Gly424=) c.1573G= (p.Gly525=) c.1420G= (p.Gly474=) | |
| 8 | g.143728209C>G | CA372467864 | FAM83H | c.1252G>C (p.Gly418Arg) c.1855G>C (p.Gly619Arg) c.432G>C c.1309G>C (p.Gly437Arg) c.1270G>C (p.Gly424Arg) c.1573G>C (p.Gly525Arg) c.1420G>C (p.Gly474Arg) | |
| 8 | g.143728209C>T | CA372467865 | FAM83H | c.1252G>A (p.Gly418Ser) c.1855G>A (p.Gly619Ser) c.432G>A c.1309G>A (p.Gly437Ser) c.1270G>A (p.Gly424Ser) c.1573G>A (p.Gly525Ser) c.1420G>A (p.Gly474Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728211_143728249del | CA2718601135 | FAM83H | c.1214_1252del (p.Asp405_Ala417del) c.1817_1855del (p.Asp606_Ala618del) c.394_432del c.1271_1309del (p.Asp424_Ala436del) c.1232_1270del (p.Asp411_Ala423del) c.1535_1573del (p.Asp512_Ala524del) c.1382_1420del (p.Asp461_Ala473del) | dbSNP |
| 8 | g.143728210C>A | CA463519772 | FAM83H | c.1251G>T (p.Ala417=) c.1854G>T (p.Ala618=) c.431G>T c.1308G>T (p.Ala436=) c.1269G>T (p.Ala423=) c.1572G>T (p.Ala524=) c.1419G>T (p.Ala473=) | |
| 8 | g.143728210C= | CA1825940624 | FAM83H | c.1251G= (p.Ala417=) c.1854G= (p.Ala618=) c.431G= c.1308G= (p.Ala436=) c.1269G= (p.Ala423=) c.1572G= (p.Ala524=) c.1419G= (p.Ala473=) | |
| 8 | g.143728210C>G | CA463519773 | FAM83H | c.1251G>C (p.Ala417=) c.1854G>C (p.Ala618=) c.431G>C c.1308G>C (p.Ala436=) c.1269G>C (p.Ala423=) c.1572G>C (p.Ala524=) c.1419G>C (p.Ala473=) | dbSNP |
| 8 | g.143728210C>T | CA463519769 | FAM83H | c.1251G>A (p.Ala417=) c.1854G>A (p.Ala618=) c.431G>A c.1308G>A (p.Ala436=) c.1269G>A (p.Ala423=) c.1572G>A (p.Ala524=) c.1419G>A (p.Ala473=) | gnomAD v4 |
| 8 | g.143728211G>A | CA372467866 | FAM83H | c.1250C>T (p.Ala417Val) c.1853C>T (p.Ala618Val) c.430C>T c.1307C>T (p.Ala436Val) c.1268C>T (p.Ala423Val) c.1571C>T (p.Ala524Val) c.1418C>T (p.Ala473Val) | gnomAD v4 |
| 8 | g.143728211G>C | CA372467868 | FAM83H | c.1250C>G (p.Ala417Gly) c.1853C>G (p.Ala618Gly) c.430C>G c.1307C>G (p.Ala436Gly) c.1268C>G (p.Ala423Gly) c.1571C>G (p.Ala524Gly) c.1418C>G (p.Ala473Gly) | |
| 8 | g.143728211G>T | CA372467870 | FAM83H | c.1250C>A (p.Ala417Glu) c.1853C>A (p.Ala618Glu) c.430C>A c.1307C>A (p.Ala436Glu) c.1268C>A (p.Ala423Glu) c.1571C>A (p.Ala524Glu) c.1418C>A (p.Ala473Glu) | gnomAD v4 |
| 8 | g.143728212C>A | CA372467873 | FAM83H | c.1249G>T (p.Ala417Ser) c.1852G>T (p.Ala618Ser) c.429G>T c.1306G>T (p.Ala436Ser) c.1267G>T (p.Ala423Ser) c.1570G>T (p.Ala524Ser) c.1417G>T (p.Ala473Ser) | |
| 8 | g.143728212C= | CA1825940625 | FAM83H | c.1249G= (p.Ala417=) c.1852G= (p.Ala618=) c.429G= c.1306G= (p.Ala436=) c.1267G= (p.Ala423=) c.1570G= (p.Ala524=) c.1417G= (p.Ala473=) | |
| 8 | g.143728212C>G | CA372467876 | FAM83H | c.1249G>C (p.Ala417Pro) c.1852G>C (p.Ala618Pro) c.429G>C c.1306G>C (p.Ala436Pro) c.1267G>C (p.Ala423Pro) c.1570G>C (p.Ala524Pro) c.1417G>C (p.Ala473Pro) | |
| 8 | g.143728212C>T | CA4917500 | FAM83H | c.1249G>A (p.Ala417Thr) c.1852G>A (p.Ala618Thr) c.429G>A c.1306G>A (p.Ala436Thr) c.1267G>A (p.Ala423Thr) c.1570G>A (p.Ala524Thr) c.1417G>A (p.Ala473Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728213G>A | CA463519783 | FAM83H | c.1248C>T (p.Gly416=) c.1851C>T (p.Gly617=) c.428C>T c.1305C>T (p.Gly435=) c.1266C>T (p.Gly422=) c.1569C>T (p.Gly523=) c.1416C>T (p.Gly472=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728213G>C | CA463519782 | FAM83H | c.1248C>G (p.Gly416=) c.1851C>G (p.Gly617=) c.428C>G c.1305C>G (p.Gly435=) c.1266C>G (p.Gly422=) c.1569C>G (p.Gly523=) c.1416C>G (p.Gly472=) | |
| 8 | g.143728213G= | CA1825940626 | FAM83H | c.1248C= (p.Gly416=) c.1851C= (p.Gly617=) c.428C= c.1305C= (p.Gly435=) c.1266C= (p.Gly422=) c.1569C= (p.Gly523=) c.1416C= (p.Gly472=) | |
| 8 | g.143728213G>T | CA463519785 | FAM83H | c.1248C>A (p.Gly416=) c.1851C>A (p.Gly617=) c.428C>A c.1305C>A (p.Gly435=) c.1266C>A (p.Gly422=) c.1569C>A (p.Gly523=) c.1416C>A (p.Gly472=) | gnomAD v4 |
| 8 | g.143728214C>A | CA372467888 | FAM83H | c.1247G>T (p.Gly416Val) c.1850G>T (p.Gly617Val) c.427G>T c.1304G>T (p.Gly435Val) c.1265G>T (p.Gly422Val) c.1568G>T (p.Gly523Val) c.1415G>T (p.Gly472Val) | |
| 8 | g.143728214C>G | CA372467886 | FAM83H | c.1247G>C (p.Gly416Ala) c.1850G>C (p.Gly617Ala) c.427G>C c.1304G>C (p.Gly435Ala) c.1265G>C (p.Gly422Ala) c.1568G>C (p.Gly523Ala) c.1415G>C (p.Gly472Ala) | |
| 8 | g.143728214C>T | CA372467883 | FAM83H | c.1247G>A (p.Gly416Asp) c.1850G>A (p.Gly617Asp) c.427G>A c.1304G>A (p.Gly435Asp) c.1265G>A (p.Gly422Asp) c.1568G>A (p.Gly523Asp) c.1415G>A (p.Gly472Asp) | gnomAD v4 |
| 8 | g.143728215C>A | CA372467892 | FAM83H | c.1246G>T (p.Gly416Cys) c.1849G>T (p.Gly617Cys) c.426G>T c.1303G>T (p.Gly435Cys) c.1264G>T (p.Gly422Cys) c.1567G>T (p.Gly523Cys) c.1414G>T (p.Gly472Cys) | |
| 8 | g.143728215C= | CA1825940627 | FAM83H | c.1246G= (p.Gly416=) c.1849G= (p.Gly617=) c.426G= c.1303G= (p.Gly435=) c.1264G= (p.Gly422=) c.1567G= (p.Gly523=) c.1414G= (p.Gly472=) | |
| 8 | g.143728215C>G | CA372467894 | FAM83H | c.1246G>C (p.Gly416Arg) c.1849G>C (p.Gly617Arg) c.426G>C c.1303G>C (p.Gly435Arg) c.1264G>C (p.Gly422Arg) c.1567G>C (p.Gly523Arg) c.1414G>C (p.Gly472Arg) | |
| 8 | g.143728215C>T | CA4917501 | FAM83H | c.1246G>A (p.Gly416Ser) c.1849G>A (p.Gly617Ser) c.426G>A c.1303G>A (p.Gly435Ser) c.1264G>A (p.Gly422Ser) c.1567G>A (p.Gly523Ser) c.1414G>A (p.Gly472Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728216C>A | CA372467895 | FAM83H | c.1245G>T (p.Glu415Asp) c.1848G>T (p.Glu616Asp) c.425G>T c.1302G>T (p.Glu434Asp) c.1263G>T (p.Glu421Asp) c.1566G>T (p.Glu522Asp) c.1413G>T (p.Glu471Asp) | gnomAD v4 |
| 8 | g.143728216C= | CA1825940628 | FAM83H | c.1245G= (p.Glu415=) c.1848G= (p.Glu616=) c.425G= c.1302G= (p.Glu434=) c.1263G= (p.Glu421=) c.1566G= (p.Glu522=) c.1413G= (p.Glu471=) | |
| 8 | g.143728216C>G | CA372467896 | FAM83H | c.1245G>C (p.Glu415Asp) c.1848G>C (p.Glu616Asp) c.425G>C c.1302G>C (p.Glu434Asp) c.1263G>C (p.Glu421Asp) c.1566G>C (p.Glu522Asp) c.1413G>C (p.Glu471Asp) | dbSNP |
| 8 | g.143728216C>T | CA463519795 | FAM83H | c.1245G>A (p.Glu415=) c.1848G>A (p.Glu616=) c.425G>A c.1302G>A (p.Glu434=) c.1263G>A (p.Glu421=) c.1566G>A (p.Glu522=) c.1413G>A (p.Glu471=) | |
| 8 | g.143728217T>A | CA372467897 | FAM83H | c.1244A>T (p.Glu415Val) c.1847A>T (p.Glu616Val) c.424A>T c.1301A>T (p.Glu434Val) c.1262A>T (p.Glu421Val) c.1565A>T (p.Glu522Val) c.1412A>T (p.Glu471Val) | |
| 8 | g.143728217T>C | CA372467898 | FAM83H | c.1244A>G (p.Glu415Gly) c.1847A>G (p.Glu616Gly) c.424A>G c.1301A>G (p.Glu434Gly) c.1262A>G (p.Glu421Gly) c.1565A>G (p.Glu522Gly) c.1412A>G (p.Glu471Gly) | |
| 8 | g.143728217T>G | CA372467899 | FAM83H | c.1244A>C (p.Glu415Ala) c.1847A>C (p.Glu616Ala) c.424A>C c.1301A>C (p.Glu434Ala) c.1262A>C (p.Glu421Ala) c.1565A>C (p.Glu522Ala) c.1412A>C (p.Glu471Ala) | |
| 8 | g.143728218C>A | CA114495 | FAM83H | c.1243G>T (p.Glu415Ter) c.1846G>T (p.Glu616Ter) c.423G>T c.1300G>T (p.Glu434Ter) c.1261G>T (p.Glu421Ter) c.1564G>T (p.Glu522Ter) c.1411G>T (p.Glu471Ter) | ClinVar dbSNP |
| 8 | g.143728218C= | CA1825940629 | FAM83H | c.1243G= (p.Glu415=) c.1846G= (p.Glu616=) c.423G= c.1300G= (p.Glu434=) c.1261G= (p.Glu421=) c.1564G= (p.Glu522=) c.1411G= (p.Glu471=) | |
| 8 | g.143728218C>G | CA372467903 | FAM83H | c.1243G>C (p.Glu415Gln) c.1846G>C (p.Glu616Gln) c.423G>C c.1300G>C (p.Glu434Gln) c.1261G>C (p.Glu421Gln) c.1564G>C (p.Glu522Gln) c.1411G>C (p.Glu471Gln) | |
| 8 | g.143728218C>T | CA4917502 | FAM83H | c.1243G>A (p.Glu415Lys) c.1846G>A (p.Glu616Lys) c.423G>A c.1300G>A (p.Glu434Lys) c.1261G>A (p.Glu421Lys) c.1564G>A (p.Glu522Lys) c.1411G>A (p.Glu471Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728219G>A | CA463519803 | FAM83H | c.1242C>T (p.Thr414=) c.1845C>T (p.Thr615=) c.422C>T c.1299C>T (p.Thr433=) c.1260C>T (p.Thr420=) c.1563C>T (p.Thr521=) c.1410C>T (p.Thr470=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728219G>C | CA463519804 | FAM83H | c.1242C>G (p.Thr414=) c.1845C>G (p.Thr615=) c.422C>G c.1299C>G (p.Thr433=) c.1260C>G (p.Thr420=) c.1563C>G (p.Thr521=) c.1410C>G (p.Thr470=) | dbSNP |
| 8 | g.143728219G= | CA1825940630 | FAM83H | c.1242C= (p.Thr414=) c.1845C= (p.Thr615=) c.422C= c.1299C= (p.Thr433=) c.1260C= (p.Thr420=) c.1563C= (p.Thr521=) c.1410C= (p.Thr470=) | |
| 8 | g.143728219G>T | CA463519805 | FAM83H | c.1242C>A (p.Thr414=) c.1845C>A (p.Thr615=) c.422C>A c.1299C>A (p.Thr433=) c.1260C>A (p.Thr420=) c.1563C>A (p.Thr521=) c.1410C>A (p.Thr470=) | gnomAD v4 |
| 8 | g.143728220G>A | CA372467904 | FAM83H | c.1241C>T (p.Thr414Ile) c.1844C>T (p.Thr615Ile) c.421C>T c.1298C>T (p.Thr433Ile) c.1259C>T (p.Thr420Ile) c.1562C>T (p.Thr521Ile) c.1409C>T (p.Thr470Ile) | gnomAD v4 |
| 8 | g.143728220G>C | CA372467907 | FAM83H | c.1241C>G (p.Thr414Ser) c.1844C>G (p.Thr615Ser) c.421C>G c.1298C>G (p.Thr433Ser) c.1259C>G (p.Thr420Ser) c.1562C>G (p.Thr521Ser) c.1409C>G (p.Thr470Ser) | gnomAD v4 |
| 8 | g.143728220G>T | CA372467910 | FAM83H | c.1241C>A (p.Thr414Asn) c.1844C>A (p.Thr615Asn) c.421C>A c.1298C>A (p.Thr433Asn) c.1259C>A (p.Thr420Asn) c.1562C>A (p.Thr521Asn) c.1409C>A (p.Thr470Asn) | gnomAD v4 |
| 8 | g.143728220_143728221insCCG | CA2564990654 | FAM83H | c.1241_1242insGGC (p.Thr414_Glu415insAla) c.1844_1845insGGC (p.Thr615_Glu616insAla) c.421_422insGGC c.1298_1299insGGC (p.Thr433_Glu434insAla) c.1259_1260insGGC (p.Thr420_Glu421insAla) c.1562_1563insGGC (p.Thr521_Glu522insAla) c.1409_1410insGGC (p.Thr470_Glu471insAla) | |
| 8 | g.143728221del | CA2688980726 | FAM83H | c.1240del (p.Thr414ProfsTer?) c.1843del (p.Thr615ProfsTer?) c.420del c.1297del (p.Thr433ProfsTer?) c.1258del (p.Thr420ProfsTer?) c.1561del (p.Thr521ProfsTer?) c.1408del (p.Thr470ProfsTer?) | gnomAD v4 |
| 8 | g.143728221T>A | CA372467915 | FAM83H | c.1240A>T (p.Thr414Ser) c.1843A>T (p.Thr615Ser) c.420A>T c.1297A>T (p.Thr433Ser) c.1258A>T (p.Thr420Ser) c.1561A>T (p.Thr521Ser) c.1408A>T (p.Thr470Ser) | |
| 8 | g.143728221T>C | CA372467913 | FAM83H | c.1240A>G (p.Thr414Ala) c.1843A>G (p.Thr615Ala) c.420A>G c.1297A>G (p.Thr433Ala) c.1258A>G (p.Thr420Ala) c.1561A>G (p.Thr521Ala) c.1408A>G (p.Thr470Ala) | |
| 8 | g.143728221T>G | CA372467912 | FAM83H | c.1240A>C (p.Thr414Pro) c.1843A>C (p.Thr615Pro) c.420A>C c.1297A>C (p.Thr433Pro) c.1258A>C (p.Thr420Pro) c.1561A>C (p.Thr521Pro) c.1408A>C (p.Thr470Pro) | |
| 8 | g.143728222C>A | CA463519813 | FAM83H | c.1239G>T (p.Ala413=) c.1842G>T (p.Ala614=) c.419G>T c.1296G>T (p.Ala432=) c.1257G>T (p.Ala419=) c.1560G>T (p.Ala520=) c.1407G>T (p.Ala469=) | gnomAD v4 |
| 8 | g.143728222C= | CA1825940631 | FAM83H | c.1239G= (p.Ala413=) c.1842G= (p.Ala614=) c.419G= c.1296G= (p.Ala432=) c.1257G= (p.Ala419=) c.1560G= (p.Ala520=) c.1407G= (p.Ala469=) | |
| 8 | g.143728222C>G | CA463519814 | FAM83H | c.1239G>C (p.Ala413=) c.1842G>C (p.Ala614=) c.419G>C c.1296G>C (p.Ala432=) c.1257G>C (p.Ala419=) c.1560G>C (p.Ala520=) c.1407G>C (p.Ala469=) | |
| 8 | g.143728222C>T | CA4917503 | FAM83H | c.1239G>A (p.Ala413=) c.1842G>A (p.Ala614=) c.419G>A c.1296G>A (p.Ala432=) c.1257G>A (p.Ala419=) c.1560G>A (p.Ala520=) c.1407G>A (p.Ala469=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728223G>A | CA372467918 | FAM83H | c.1238C>T (p.Ala413Val) c.1841C>T (p.Ala614Val) c.418C>T c.1295C>T (p.Ala432Val) c.1256C>T (p.Ala419Val) c.1559C>T (p.Ala520Val) c.1406C>T (p.Ala469Val) | gnomAD v4 |
| 8 | g.143728223G>C | CA372467920 | FAM83H | c.1238C>G (p.Ala413Gly) c.1841C>G (p.Ala614Gly) c.418C>G c.1295C>G (p.Ala432Gly) c.1256C>G (p.Ala419Gly) c.1559C>G (p.Ala520Gly) c.1406C>G (p.Ala469Gly) | |
| 8 | g.143728223G>T | CA372467922 | FAM83H | c.1238C>A (p.Ala413Glu) c.1841C>A (p.Ala614Glu) c.418C>A c.1295C>A (p.Ala432Glu) c.1256C>A (p.Ala419Glu) c.1559C>A (p.Ala520Glu) c.1406C>A (p.Ala469Glu) | gnomAD v4 |
| 8 | g.143728224C>A | CA372467931 | FAM83H | c.1237G>T (p.Ala413Ser) c.1840G>T (p.Ala614Ser) c.417G>T c.1294G>T (p.Ala432Ser) c.1255G>T (p.Ala419Ser) c.1558G>T (p.Ala520Ser) c.1405G>T (p.Ala469Ser) | |
| 8 | g.143728224C= | CA1825940632 | FAM83H | c.1237G= (p.Ala413=) c.1840G= (p.Ala614=) c.417G= c.1294G= (p.Ala432=) c.1255G= (p.Ala419=) c.1558G= (p.Ala520=) c.1405G= (p.Ala469=) | |
| 8 | g.143728224C>G | CA372467933 | FAM83H | c.1237G>C (p.Ala413Pro) c.1840G>C (p.Ala614Pro) c.417G>C c.1294G>C (p.Ala432Pro) c.1255G>C (p.Ala419Pro) c.1558G>C (p.Ala520Pro) c.1405G>C (p.Ala469Pro) | gnomAD v4 |
| 8 | g.143728224C>T | CA372467934 | FAM83H | c.1237G>A (p.Ala413Thr) c.1840G>A (p.Ala614Thr) c.417G>A c.1294G>A (p.Ala432Thr) c.1255G>A (p.Ala419Thr) c.1558G>A (p.Ala520Thr) c.1405G>A (p.Ala469Thr) | dbSNP gnomAD v4 |
| 8 | g.143728225G>A | CA463519818 | FAM83H | c.1236C>T (p.Phe412=) c.1839C>T (p.Phe613=) c.416C>T c.1293C>T (p.Phe431=) c.1254C>T (p.Phe418=) c.1557C>T (p.Phe519=) c.1404C>T (p.Phe468=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728225G>C | CA372467938 | FAM83H | c.1236C>G (p.Phe412Leu) c.1839C>G (p.Phe613Leu) c.416C>G c.1293C>G (p.Phe431Leu) c.1254C>G (p.Phe418Leu) c.1557C>G (p.Phe519Leu) c.1404C>G (p.Phe468Leu) | |
| 8 | g.143728225G= | CA1825940633 | FAM83H | c.1236C= (p.Phe412=) c.1839C= (p.Phe613=) c.416C= c.1293C= (p.Phe431=) c.1254C= (p.Phe418=) c.1557C= (p.Phe519=) c.1404C= (p.Phe468=) | |
| 8 | g.143728225G>T | CA372467939 | FAM83H | c.1236C>A (p.Phe412Leu) c.1839C>A (p.Phe613Leu) c.416C>A c.1293C>A (p.Phe431Leu) c.1254C>A (p.Phe418Leu) c.1557C>A (p.Phe519Leu) c.1404C>A (p.Phe468Leu) | gnomAD v4 |
| 8 | g.143728226A>C | CA372467941 | FAM83H | c.1235T>G (p.Phe412Cys) c.1838T>G (p.Phe613Cys) c.415T>G c.1292T>G (p.Phe431Cys) c.1253T>G (p.Phe418Cys) c.1556T>G (p.Phe519Cys) c.1403T>G (p.Phe468Cys) | |
| 8 | g.143728226A>G | CA372467943 | FAM83H | c.1235T>C (p.Phe412Ser) c.1838T>C (p.Phe613Ser) c.415T>C c.1292T>C (p.Phe431Ser) c.1253T>C (p.Phe418Ser) c.1556T>C (p.Phe519Ser) c.1403T>C (p.Phe468Ser) | |
| 8 | g.143728226A>T | CA372467947 | FAM83H | c.1235T>A (p.Phe412Tyr) c.1838T>A (p.Phe613Tyr) c.415T>A c.1292T>A (p.Phe431Tyr) c.1253T>A (p.Phe418Tyr) c.1556T>A (p.Phe519Tyr) c.1403T>A (p.Phe468Tyr) | |
| 8 | g.143728227A>C | CA372467954 | FAM83H | c.1234T>G (p.Phe412Val) c.1837T>G (p.Phe613Val) c.414T>G c.1291T>G (p.Phe431Val) c.1252T>G (p.Phe418Val) c.1555T>G (p.Phe519Val) c.1402T>G (p.Phe468Val) | |
| 8 | g.143728227A>G | CA372467952 | FAM83H | c.1234T>C (p.Phe412Leu) c.1837T>C (p.Phe613Leu) c.414T>C c.1291T>C (p.Phe431Leu) c.1252T>C (p.Phe418Leu) c.1555T>C (p.Phe519Leu) c.1402T>C (p.Phe468Leu) | dbSNP gnomAD v4 |
| 8 | g.143728227A>T | CA372467950 | FAM83H | c.1234T>A (p.Phe412Ile) c.1837T>A (p.Phe613Ile) c.414T>A c.1291T>A (p.Phe431Ile) c.1252T>A (p.Phe418Ile) c.1555T>A (p.Phe519Ile) c.1402T>A (p.Phe468Ile) | |
| 8 | g.143728228G>A | CA463519827 | FAM83H | c.1233C>T (p.Ser411=) c.1836C>T (p.Ser612=) c.413C>T c.1290C>T (p.Ser430=) c.1251C>T (p.Ser417=) c.1554C>T (p.Ser518=) c.1401C>T (p.Ser467=) | dbSNP |
| 8 | g.143728228G>C | CA372467957 | FAM83H | c.1233C>G (p.Ser411Arg) c.1836C>G (p.Ser612Arg) c.413C>G c.1290C>G (p.Ser430Arg) c.1251C>G (p.Ser417Arg) c.1554C>G (p.Ser518Arg) c.1401C>G (p.Ser467Arg) | |
| 8 | g.143728228G>T | CA372467960 | FAM83H | c.1233C>A (p.Ser411Arg) c.1836C>A (p.Ser612Arg) c.413C>A c.1290C>A (p.Ser430Arg) c.1251C>A (p.Ser417Arg) c.1554C>A (p.Ser518Arg) c.1401C>A (p.Ser467Arg) | gnomAD v4 |
| 8 | g.143728229C>A | CA372467964 | FAM83H | c.1232G>T (p.Ser411Ile) c.1835G>T (p.Ser612Ile) c.412G>T c.1289G>T (p.Ser430Ile) c.1250G>T (p.Ser417Ile) c.1553G>T (p.Ser518Ile) c.1400G>T (p.Ser467Ile) | |
| 8 | g.143728229C>G | CA372467966 | FAM83H | c.1232G>C (p.Ser411Thr) c.1835G>C (p.Ser612Thr) c.412G>C c.1289G>C (p.Ser430Thr) c.1250G>C (p.Ser417Thr) c.1553G>C (p.Ser518Thr) c.1400G>C (p.Ser467Thr) | |
| 8 | g.143728229C>T | CA372467967 | FAM83H | c.1232G>A (p.Ser411Asn) c.1835G>A (p.Ser612Asn) c.412G>A c.1289G>A (p.Ser430Asn) c.1250G>A (p.Ser417Asn) c.1553G>A (p.Ser518Asn) c.1400G>A (p.Ser467Asn) | gnomAD v4 |
| 8 | g.143728230T>A | CA372467970 | FAM83H | c.1231A>T (p.Ser411Cys) c.1834A>T (p.Ser612Cys) c.411A>T c.1288A>T (p.Ser430Cys) c.1249A>T (p.Ser417Cys) c.1552A>T (p.Ser518Cys) c.1399A>T (p.Ser467Cys) | |
| 8 | g.143728230T>C | CA372467971 | FAM83H | c.1231A>G (p.Ser411Gly) c.1834A>G (p.Ser612Gly) c.411A>G c.1288A>G (p.Ser430Gly) c.1249A>G (p.Ser417Gly) c.1552A>G (p.Ser518Gly) c.1399A>G (p.Ser467Gly) | gnomAD v4 |
| 8 | g.143728230T>G | CA372467972 | FAM83H | c.1231A>C (p.Ser411Arg) c.1834A>C (p.Ser612Arg) c.411A>C c.1288A>C (p.Ser430Arg) c.1249A>C (p.Ser417Arg) c.1552A>C (p.Ser518Arg) c.1399A>C (p.Ser467Arg) | |
| 8 | g.143728231G>A | CA463519833 | FAM83H | c.1230C>T (p.His410=) c.1833C>T (p.His611=) c.410C>T c.1287C>T (p.His429=) c.1248C>T (p.His416=) c.1551C>T (p.His517=) c.1398C>T (p.His466=) | gnomAD v4 |
| 8 | g.143728231G>C | CA372467974 | FAM83H | c.1230C>G (p.His410Gln) c.1833C>G (p.His611Gln) c.410C>G c.1287C>G (p.His429Gln) c.1248C>G (p.His416Gln) c.1551C>G (p.His517Gln) c.1398C>G (p.His466Gln) | |
| 8 | g.143728231G>T | CA372467976 | FAM83H | c.1230C>A (p.His410Gln) c.1833C>A (p.His611Gln) c.410C>A c.1287C>A (p.His429Gln) c.1248C>A (p.His416Gln) c.1551C>A (p.His517Gln) c.1398C>A (p.His466Gln) | |
| 8 | g.143728232T>A | CA372467979 | FAM83H | c.1229A>T (p.His410Leu) c.1832A>T (p.His611Leu) c.409A>T c.1286A>T (p.His429Leu) c.1247A>T (p.His416Leu) c.1550A>T (p.His517Leu) c.1397A>T (p.His466Leu) | |
| 8 | g.143728232T>C | CA372467985 | FAM83H | c.1229A>G (p.His410Arg) c.1832A>G (p.His611Arg) c.409A>G c.1286A>G (p.His429Arg) c.1247A>G (p.His416Arg) c.1550A>G (p.His517Arg) c.1397A>G (p.His466Arg) | |
| 8 | g.143728232T>G | CA372467988 | FAM83H | c.1229A>C (p.His410Pro) c.1832A>C (p.His611Pro) c.409A>C c.1286A>C (p.His429Pro) c.1247A>C (p.His416Pro) c.1550A>C (p.His517Pro) c.1397A>C (p.His466Pro) | gnomAD v4 |
| 8 | g.143728233G>A | CA4917504 | FAM83H | c.1228C>T (p.His410Tyr) c.1831C>T (p.His611Tyr) c.408C>T c.1285C>T (p.His429Tyr) c.1246C>T (p.His416Tyr) c.1549C>T (p.His517Tyr) c.1396C>T (p.His466Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728233G>C | CA372467990 | FAM83H | c.1228C>G (p.His410Asp) c.1831C>G (p.His611Asp) c.408C>G c.1285C>G (p.His429Asp) c.1246C>G (p.His416Asp) c.1549C>G (p.His517Asp) c.1396C>G (p.His466Asp) | |
| 8 | g.143728233G= | CA1825940634 | FAM83H | c.1228C= (p.His410=) c.1831C= (p.His611=) c.408C= c.1285C= (p.His429=) c.1246C= (p.His416=) c.1549C= (p.His517=) c.1396C= (p.His466=) | |
| 8 | g.143728233G>T | CA4917505 | FAM83H | c.1228C>A (p.His410Asn) c.1831C>A (p.His611Asn) c.408C>A c.1285C>A (p.His429Asn) c.1246C>A (p.His416Asn) c.1549C>A (p.His517Asn) c.1396C>A (p.His466Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728234C>A | CA463519839 | FAM83H | c.1227G>T (p.Arg409=) c.1830G>T (p.Arg610=) c.407G>T c.1284G>T (p.Arg428=) c.1245G>T (p.Arg415=) c.1548G>T (p.Arg516=) c.1395G>T (p.Arg465=) | |
| 8 | g.143728234C= | CA1825940635 | FAM83H | c.1227G= (p.Arg409=) c.1830G= (p.Arg610=) c.407G= c.1284G= (p.Arg428=) c.1245G= (p.Arg415=) c.1548G= (p.Arg516=) c.1395G= (p.Arg465=) | |
| 8 | g.143728234C>G | CA463519841 | FAM83H | c.1227G>C (p.Arg409=) c.1830G>C (p.Arg610=) c.407G>C c.1284G>C (p.Arg428=) c.1245G>C (p.Arg415=) c.1548G>C (p.Arg516=) c.1395G>C (p.Arg465=) | |
| 8 | g.143728234C>T | CA187605428 | FAM83H | c.1227G>A (p.Arg409=) c.1830G>A (p.Arg610=) c.407G>A c.1284G>A (p.Arg428=) c.1245G>A (p.Arg415=) c.1548G>A (p.Arg516=) c.1395G>A (p.Arg465=) | dbSNP gnomAD v4 |
| 8 | g.143728235C>A | CA372467999 | FAM83H | c.1226G>T (p.Arg409Leu) c.1829G>T (p.Arg610Leu) c.406G>T c.1283G>T (p.Arg428Leu) c.1244G>T (p.Arg415Leu) c.1547G>T (p.Arg516Leu) c.1394G>T (p.Arg465Leu) | gnomAD v4 |
| 8 | g.143728235C= | CA1825940636 | FAM83H | c.1226G= (p.Arg409=) c.1829G= (p.Arg610=) c.406G= c.1283G= (p.Arg428=) c.1244G= (p.Arg415=) c.1547G= (p.Arg516=) c.1394G= (p.Arg465=) | |
| 8 | g.143728235C>G | CA372468001 | FAM83H | c.1226G>C (p.Arg409Pro) c.1829G>C (p.Arg610Pro) c.406G>C c.1283G>C (p.Arg428Pro) c.1244G>C (p.Arg415Pro) c.1547G>C (p.Arg516Pro) c.1394G>C (p.Arg465Pro) | gnomAD v4 |
| 8 | g.143728235C>T | CA372468003 | FAM83H | c.1226G>A (p.Arg409Gln) c.1829G>A (p.Arg610Gln) c.406G>A c.1283G>A (p.Arg428Gln) c.1244G>A (p.Arg415Gln) c.1547G>A (p.Arg516Gln) c.1394G>A (p.Arg465Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728236G>A | CA4917506 | FAM83H | c.1225C>T (p.Arg409Trp) c.1828C>T (p.Arg610Trp) c.405C>T c.1282C>T (p.Arg428Trp) c.1243C>T (p.Arg415Trp) c.1546C>T (p.Arg516Trp) c.1393C>T (p.Arg465Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728236G>C | CA372468006 | FAM83H | c.1225C>G (p.Arg409Gly) c.1828C>G (p.Arg610Gly) c.405C>G c.1282C>G (p.Arg428Gly) c.1243C>G (p.Arg415Gly) c.1546C>G (p.Arg516Gly) c.1393C>G (p.Arg465Gly) | |
| 8 | g.143728236G= | CA1825940637 | FAM83H | c.1225C= (p.Arg409=) c.1828C= (p.Arg610=) c.405C= c.1282C= (p.Arg428=) c.1243C= (p.Arg415=) c.1546C= (p.Arg516=) c.1393C= (p.Arg465=) | |
| 8 | g.143728236G>T | CA463519848 | FAM83H | c.1225C>A (p.Arg409=) c.1828C>A (p.Arg610=) c.405C>A c.1282C>A (p.Arg428=) c.1243C>A (p.Arg415=) c.1546C>A (p.Arg516=) c.1393C>A (p.Arg465=) | gnomAD v4 |
| 8 | g.143728237C>A | CA372468008 | FAM83H | c.1224G>T (p.Lys408Asn) c.1827G>T (p.Lys609Asn) c.404G>T c.1281G>T (p.Lys427Asn) c.1242G>T (p.Lys414Asn) c.1545G>T (p.Lys515Asn) c.1392G>T (p.Lys464Asn) | |
| 8 | g.143728237C>G | CA372468011 | FAM83H | c.1224G>C (p.Lys408Asn) c.1827G>C (p.Lys609Asn) c.404G>C c.1281G>C (p.Lys427Asn) c.1242G>C (p.Lys414Asn) c.1545G>C (p.Lys515Asn) c.1392G>C (p.Lys464Asn) | |
| 8 | g.143728237C>T | CA463519849 | FAM83H | c.1224G>A (p.Lys408=) c.1827G>A (p.Lys609=) c.404G>A c.1281G>A (p.Lys427=) c.1242G>A (p.Lys414=) c.1545G>A (p.Lys515=) c.1392G>A (p.Lys464=) | |
| 8 | g.143728238T>A | CA372468014 | FAM83H | c.1223A>T (p.Lys408Met) c.1826A>T (p.Lys609Met) c.403A>T c.1280A>T (p.Lys427Met) c.1241A>T (p.Lys414Met) c.1544A>T (p.Lys515Met) c.1391A>T (p.Lys464Met) | |
| 8 | g.143728238T>C | CA372468015 | FAM83H | c.1223A>G (p.Lys408Arg) c.1826A>G (p.Lys609Arg) c.403A>G c.1280A>G (p.Lys427Arg) c.1241A>G (p.Lys414Arg) c.1544A>G (p.Lys515Arg) c.1391A>G (p.Lys464Arg) | |
| 8 | g.143728238T>G | CA372468020 | FAM83H | c.1223A>C (p.Lys408Thr) c.1826A>C (p.Lys609Thr) c.403A>C c.1280A>C (p.Lys427Thr) c.1241A>C (p.Lys414Thr) c.1544A>C (p.Lys515Thr) c.1391A>C (p.Lys464Thr) | |
| 8 | g.143728239T>A | CA372468026 | FAM83H | c.1222A>T (p.Lys408Ter) c.1825A>T (p.Lys609Ter) c.402A>T c.1279A>T (p.Lys427Ter) c.1240A>T (p.Lys414Ter) c.1543A>T (p.Lys515Ter) c.1390A>T (p.Lys464Ter) | |
| 8 | g.143728239T>C | CA372468024 | FAM83H | c.1222A>G (p.Lys408Glu) c.1825A>G (p.Lys609Glu) c.402A>G c.1279A>G (p.Lys427Glu) c.1240A>G (p.Lys414Glu) c.1543A>G (p.Lys515Glu) c.1390A>G (p.Lys464Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728239T>G | CA372468022 | FAM83H | c.1222A>C (p.Lys408Gln) c.1825A>C (p.Lys609Gln) c.402A>C c.1279A>C (p.Lys427Gln) c.1240A>C (p.Lys414Gln) c.1543A>C (p.Lys515Gln) c.1390A>C (p.Lys464Gln) | gnomAD v4 |
| 8 | g.143728239T= | CA1825940638 | FAM83H | c.1222A= (p.Lys408=) c.1825A= (p.Lys609=) c.402A= c.1279A= (p.Lys427=) c.1240A= (p.Lys414=) c.1543A= (p.Lys515=) c.1390A= (p.Lys464=) | |
| 8 | g.143728240G>A | CA463519859 | FAM83H | c.1221C>T (p.Phe407=) c.1824C>T (p.Phe608=) c.401C>T c.1278C>T (p.Phe426=) c.1239C>T (p.Phe413=) c.1542C>T (p.Phe514=) c.1389C>T (p.Phe463=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728240G>C | CA372468027 | FAM83H | c.1221C>G (p.Phe407Leu) c.1824C>G (p.Phe608Leu) c.401C>G c.1278C>G (p.Phe426Leu) c.1239C>G (p.Phe413Leu) c.1542C>G (p.Phe514Leu) c.1389C>G (p.Phe463Leu) | |
| 8 | g.143728240G= | CA1825940639 | FAM83H | c.1221C= (p.Phe407=) c.1824C= (p.Phe608=) c.401C= c.1278C= (p.Phe426=) c.1239C= (p.Phe413=) c.1542C= (p.Phe514=) c.1389C= (p.Phe463=) | |
| 8 | g.143728240G>T | CA372468031 | FAM83H | c.1221C>A (p.Phe407Leu) c.1824C>A (p.Phe608Leu) c.401C>A c.1278C>A (p.Phe426Leu) c.1239C>A (p.Phe413Leu) c.1542C>A (p.Phe514Leu) c.1389C>A (p.Phe463Leu) | gnomAD v4 |
| 8 | g.143728241A= | CA1825940640 | FAM83H | c.1220T= (p.Phe407=) c.1823T= (p.Phe608=) c.400T= c.1277T= (p.Phe426=) c.1238T= (p.Phe413=) c.1541T= (p.Phe514=) c.1388T= (p.Phe463=) | |
| 8 | g.143728241A>C | CA4917507 | FAM83H | c.1220T>G (p.Phe407Cys) c.1823T>G (p.Phe608Cys) c.400T>G c.1277T>G (p.Phe426Cys) c.1238T>G (p.Phe413Cys) c.1541T>G (p.Phe514Cys) c.1388T>G (p.Phe463Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728241A>G | CA372468037 | FAM83H | c.1220T>C (p.Phe407Ser) c.1823T>C (p.Phe608Ser) c.400T>C c.1277T>C (p.Phe426Ser) c.1238T>C (p.Phe413Ser) c.1541T>C (p.Phe514Ser) c.1388T>C (p.Phe463Ser) | gnomAD v4 |
| 8 | g.143728241A>T | CA372468036 | FAM83H | c.1220T>A (p.Phe407Tyr) c.1823T>A (p.Phe608Tyr) c.400T>A c.1277T>A (p.Phe426Tyr) c.1238T>A (p.Phe413Tyr) c.1541T>A (p.Phe514Tyr) c.1388T>A (p.Phe463Tyr) | |
| 8 | g.143728242del | CA2688980741 | FAM83H | c.1220del (p.Phe407SerfsTer?) c.1823del (p.Phe608SerfsTer?) c.400del c.1277del (p.Phe426SerfsTer?) c.1238del (p.Phe413SerfsTer?) c.1541del (p.Phe514SerfsTer?) c.1388del (p.Phe463SerfsTer?) | gnomAD v4 |
| 8 | g.143728242A>C | CA372468040 | FAM83H | c.1219T>G (p.Phe407Val) c.1822T>G (p.Phe608Val) c.399T>G c.1276T>G (p.Phe426Val) c.1237T>G (p.Phe413Val) c.1540T>G (p.Phe514Val) c.1387T>G (p.Phe463Val) | |
| 8 | g.143728242A>G | CA372468043 | FAM83H | c.1219T>C (p.Phe407Leu) c.1822T>C (p.Phe608Leu) c.399T>C c.1276T>C (p.Phe426Leu) c.1237T>C (p.Phe413Leu) c.1540T>C (p.Phe514Leu) c.1387T>C (p.Phe463Leu) | |
| 8 | g.143728242A>T | CA372468046 | FAM83H | c.1219T>A (p.Phe407Ile) c.1822T>A (p.Phe608Ile) c.399T>A c.1276T>A (p.Phe426Ile) c.1237T>A (p.Phe413Ile) c.1540T>A (p.Phe514Ile) c.1387T>A (p.Phe463Ile) | gnomAD v4 |
| 8 | g.143728243G>A | CA463519870 | FAM83H | c.1218C>T (p.Ala406=) c.1821C>T (p.Ala607=) c.398C>T c.1275C>T (p.Ala425=) c.1236C>T (p.Ala412=) c.1539C>T (p.Ala513=) c.1386C>T (p.Ala462=) | |
| 8 | g.143728243G>C | CA463519869 | FAM83H | c.1218C>G (p.Ala406=) c.1821C>G (p.Ala607=) c.398C>G c.1275C>G (p.Ala425=) c.1236C>G (p.Ala412=) c.1539C>G (p.Ala513=) c.1386C>G (p.Ala462=) | |
| 8 | g.143728243G>T | CA463519865 | FAM83H | c.1218C>A (p.Ala406=) c.1821C>A (p.Ala607=) c.398C>A c.1275C>A (p.Ala425=) c.1236C>A (p.Ala412=) c.1539C>A (p.Ala513=) c.1386C>A (p.Ala462=) | gnomAD v4 |
| 8 | g.143728244G>A | CA372468048 | FAM83H | c.1217C>T (p.Ala406Val) c.1820C>T (p.Ala607Val) c.397C>T c.1274C>T (p.Ala425Val) c.1235C>T (p.Ala412Val) c.1538C>T (p.Ala513Val) c.1385C>T (p.Ala462Val) | gnomAD v4 |
| 8 | g.143728244G>C | CA372468049 | FAM83H | c.1217C>G (p.Ala406Gly) c.1820C>G (p.Ala607Gly) c.397C>G c.1274C>G (p.Ala425Gly) c.1235C>G (p.Ala412Gly) c.1538C>G (p.Ala513Gly) c.1385C>G (p.Ala462Gly) | |
| 8 | g.143728244G= | CA1825940641 | FAM83H | c.1217C= (p.Ala406=) c.1820C= (p.Ala607=) c.397C= c.1274C= (p.Ala425=) c.1235C= (p.Ala412=) c.1538C= (p.Ala513=) c.1385C= (p.Ala462=) | |
| 8 | g.143728244G>T | CA372468052 | FAM83H | c.1217C>A (p.Ala406Asp) c.1820C>A (p.Ala607Asp) c.397C>A c.1274C>A (p.Ala425Asp) c.1235C>A (p.Ala412Asp) c.1538C>A (p.Ala513Asp) c.1385C>A (p.Ala462Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728245C>A | CA372468054 | FAM83H | c.1216G>T (p.Ala406Ser) c.1819G>T (p.Ala607Ser) c.396G>T c.1273G>T (p.Ala425Ser) c.1234G>T (p.Ala412Ser) c.1537G>T (p.Ala513Ser) c.1384G>T (p.Ala462Ser) | gnomAD v4 |
| 8 | g.143728245C= | CA1825940642 | FAM83H | c.1216G= (p.Ala406=) c.1819G= (p.Ala607=) c.396G= c.1273G= (p.Ala425=) c.1234G= (p.Ala412=) c.1537G= (p.Ala513=) c.1384G= (p.Ala462=) | |
| 8 | g.143728245C>G | CA372468055 | FAM83H | c.1216G>C (p.Ala406Pro) c.1819G>C (p.Ala607Pro) c.396G>C c.1273G>C (p.Ala425Pro) c.1234G>C (p.Ala412Pro) c.1537G>C (p.Ala513Pro) c.1384G>C (p.Ala462Pro) | |
| 8 | g.143728245C>T | CA372468059 | FAM83H | c.1216G>A (p.Ala406Thr) c.1819G>A (p.Ala607Thr) c.396G>A c.1273G>A (p.Ala425Thr) c.1234G>A (p.Ala412Thr) c.1537G>A (p.Ala513Thr) c.1384G>A (p.Ala462Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728246G>A | CA463519877 | FAM83H | c.1215C>T (p.Asp405=) c.1818C>T (p.Asp606=) c.395C>T c.1272C>T (p.Asp424=) c.1233C>T (p.Asp411=) c.1536C>T (p.Asp512=) c.1383C>T (p.Asp461=) | gnomAD v4 |
| 8 | g.143728246G>C | CA372468061 | FAM83H | c.1215C>G (p.Asp405Glu) c.1818C>G (p.Asp606Glu) c.395C>G c.1272C>G (p.Asp424Glu) c.1233C>G (p.Asp411Glu) c.1536C>G (p.Asp512Glu) c.1383C>G (p.Asp461Glu) | |
| 8 | g.143728246G>T | CA372468065 | FAM83H | c.1215C>A (p.Asp405Glu) c.1818C>A (p.Asp606Glu) c.395C>A c.1272C>A (p.Asp424Glu) c.1233C>A (p.Asp411Glu) c.1536C>A (p.Asp512Glu) c.1383C>A (p.Asp461Glu) | gnomAD v4 |
| 8 | g.143728247T>A | CA372468073 | FAM83H | c.1214A>T (p.Asp405Val) c.1817A>T (p.Asp606Val) c.394A>T c.1271A>T (p.Asp424Val) c.1232A>T (p.Asp411Val) c.1535A>T (p.Asp512Val) c.1382A>T (p.Asp461Val) | |
| 8 | g.143728247T>C | CA372468072 | FAM83H | c.1214A>G (p.Asp405Gly) c.1817A>G (p.Asp606Gly) c.394A>G c.1271A>G (p.Asp424Gly) c.1232A>G (p.Asp411Gly) c.1535A>G (p.Asp512Gly) c.1382A>G (p.Asp461Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728247T>G | CA372468069 | FAM83H | c.1214A>C (p.Asp405Ala) c.1817A>C (p.Asp606Ala) c.394A>C c.1271A>C (p.Asp424Ala) c.1232A>C (p.Asp411Ala) c.1535A>C (p.Asp512Ala) c.1382A>C (p.Asp461Ala) | |
| 8 | g.143728247T= | CA1825940643 | FAM83H | c.1214A= (p.Asp405=) c.1817A= (p.Asp606=) c.394A= c.1271A= (p.Asp424=) c.1232A= (p.Asp411=) c.1535A= (p.Asp512=) c.1382A= (p.Asp461=) | |
| 8 | g.143728248C>A | CA372468078 | FAM83H | c.1213G>T (p.Asp405Tyr) c.1816G>T (p.Asp606Tyr) c.393G>T c.1270G>T (p.Asp424Tyr) c.1231G>T (p.Asp411Tyr) c.1534G>T (p.Asp512Tyr) c.1381G>T (p.Asp461Tyr) | |
| 8 | g.143728248C= | CA1825940644 | FAM83H | c.1213G= (p.Asp405=) c.1816G= (p.Asp606=) c.393G= c.1270G= (p.Asp424=) c.1231G= (p.Asp411=) c.1534G= (p.Asp512=) c.1381G= (p.Asp461=) | |
| 8 | g.143728248C>G | CA372468080 | FAM83H | c.1213G>C (p.Asp405His) c.1816G>C (p.Asp606His) c.393G>C c.1270G>C (p.Asp424His) c.1231G>C (p.Asp411His) c.1534G>C (p.Asp512His) c.1381G>C (p.Asp461His) | |
| 8 | g.143728248C>T | CA372468082 | FAM83H | c.1213G>A (p.Asp405Asn) c.1816G>A (p.Asp606Asn) c.393G>A c.1270G>A (p.Asp424Asn) c.1231G>A (p.Asp411Asn) c.1534G>A (p.Asp512Asn) c.1381G>A (p.Asp461Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728249C>A | CA372468084 | FAM83H | c.1212G>T (p.Met404Ile) c.1815G>T (p.Met605Ile) c.392G>T c.1269G>T (p.Met423Ile) c.1230G>T (p.Met410Ile) c.1533G>T (p.Met511Ile) c.1380G>T (p.Met460Ile) | gnomAD v4 |
| 8 | g.143728249C= | CA1825940645 | FAM83H | c.1212G= (p.Met404=) c.1815G= (p.Met605=) c.392G= c.1269G= (p.Met423=) c.1230G= (p.Met410=) c.1533G= (p.Met511=) c.1380G= (p.Met460=) | |
| 8 | g.143728249C>G | CA372468087 | FAM83H | c.1212G>C (p.Met404Ile) c.1815G>C (p.Met605Ile) c.392G>C c.1269G>C (p.Met423Ile) c.1230G>C (p.Met410Ile) c.1533G>C (p.Met511Ile) c.1380G>C (p.Met460Ile) | |
| 8 | g.143728249C>T | CA372468088 | FAM83H | c.1212G>A (p.Met404Ile) c.1815G>A (p.Met605Ile) c.392G>A c.1269G>A (p.Met423Ile) c.1230G>A (p.Met410Ile) c.1533G>A (p.Met511Ile) c.1380G>A (p.Met460Ile) | dbSNP |
| 8 | g.143728250A>C | CA372468091 | FAM83H | c.1211T>G (p.Met404Arg) c.1814T>G (p.Met605Arg) c.391T>G c.1268T>G (p.Met423Arg) c.1229T>G (p.Met410Arg) c.1532T>G (p.Met511Arg) c.1379T>G (p.Met460Arg) | |
| 8 | g.143728250A>G | CA372468098 | FAM83H | c.1211T>C (p.Met404Thr) c.1814T>C (p.Met605Thr) c.391T>C c.1268T>C (p.Met423Thr) c.1229T>C (p.Met410Thr) c.1532T>C (p.Met511Thr) c.1379T>C (p.Met460Thr) | |
| 8 | g.143728250A>T | CA372468101 | FAM83H | c.1211T>A (p.Met404Lys) c.1814T>A (p.Met605Lys) c.391T>A c.1268T>A (p.Met423Lys) c.1229T>A (p.Met410Lys) c.1532T>A (p.Met511Lys) c.1379T>A (p.Met460Lys) | |
| 8 | g.143728251T>A | CA372468105 | FAM83H | c.1210A>T (p.Met404Leu) c.1813A>T (p.Met605Leu) c.390A>T c.1267A>T (p.Met423Leu) c.1228A>T (p.Met410Leu) c.1531A>T (p.Met511Leu) c.1378A>T (p.Met460Leu) | |
| 8 | g.143728251T>C | CA372468107 | FAM83H | c.1210A>G (p.Met404Val) c.1813A>G (p.Met605Val) c.390A>G c.1267A>G (p.Met423Val) c.1228A>G (p.Met410Val) c.1531A>G (p.Met511Val) c.1378A>G (p.Met460Val) | dbSNP gnomAD v4 |
| 8 | g.143728251T>G | CA372468110 | FAM83H | c.1210A>C (p.Met404Leu) c.1813A>C (p.Met605Leu) c.390A>C c.1267A>C (p.Met423Leu) c.1228A>C (p.Met410Leu) c.1531A>C (p.Met511Leu) c.1378A>C (p.Met460Leu) | |
| 8 | g.143728251T= | CA1825940646 | FAM83H | c.1210A= (p.Met404=) c.1813A= (p.Met605=) c.390A= c.1267A= (p.Met423=) c.1228A= (p.Met410=) c.1531A= (p.Met511=) c.1378A= (p.Met460=) | |
| 8 | g.143728252C>A | CA372468113 | FAM83H | c.1209G>T (p.Glu403Asp) c.1812G>T (p.Glu604Asp) c.389G>T c.1266G>T (p.Glu422Asp) c.1227G>T (p.Glu409Asp) c.1530G>T (p.Glu510Asp) c.1377G>T (p.Glu459Asp) | gnomAD v4 |
| 8 | g.143728252C= | CA1825940647 | FAM83H | c.1209G= (p.Glu403=) c.1812G= (p.Glu604=) c.389G= c.1266G= (p.Glu422=) c.1227G= (p.Glu409=) c.1530G= (p.Glu510=) c.1377G= (p.Glu459=) | |
| 8 | g.143728252C>G | CA372468115 | FAM83H | c.1209G>C (p.Glu403Asp) c.1812G>C (p.Glu604Asp) c.389G>C c.1266G>C (p.Glu422Asp) c.1227G>C (p.Glu409Asp) c.1530G>C (p.Glu510Asp) c.1377G>C (p.Glu459Asp) | dbSNP |
| 8 | g.143728252C>T | CA463519899 | FAM83H | c.1209G>A (p.Glu403=) c.1812G>A (p.Glu604=) c.389G>A c.1266G>A (p.Glu422=) c.1227G>A (p.Glu409=) c.1530G>A (p.Glu510=) c.1377G>A (p.Glu459=) | |
| 8 | g.143728253T>A | CA372468120 | FAM83H | c.1208A>T (p.Glu403Val) c.1811A>T (p.Glu604Val) c.388A>T c.1265A>T (p.Glu422Val) c.1226A>T (p.Glu409Val) c.1529A>T (p.Glu510Val) c.1376A>T (p.Glu459Val) | |
| 8 | g.143728253T>C | CA372468122 | FAM83H | c.1208A>G (p.Glu403Gly) c.1811A>G (p.Glu604Gly) c.388A>G c.1265A>G (p.Glu422Gly) c.1226A>G (p.Glu409Gly) c.1529A>G (p.Glu510Gly) c.1376A>G (p.Glu459Gly) | gnomAD v4 |
| 8 | g.143728253T>G | CA372468124 | FAM83H | c.1208A>C (p.Glu403Ala) c.1811A>C (p.Glu604Ala) c.388A>C c.1265A>C (p.Glu422Ala) c.1226A>C (p.Glu409Ala) c.1529A>C (p.Glu510Ala) c.1376A>C (p.Glu459Ala) | |
| 8 | g.143728254C>A | CA372468126 | FAM83H | c.1207G>T (p.Glu403Ter) c.1810G>T (p.Glu604Ter) c.387G>T c.1264G>T (p.Glu422Ter) c.1225G>T (p.Glu409Ter) c.1528G>T (p.Glu510Ter) c.1375G>T (p.Glu459Ter) | gnomAD v4 |
| 8 | g.143728254C= | CA1825940648 | FAM83H | c.1207G= (p.Glu403=) c.1810G= (p.Glu604=) c.387G= c.1264G= (p.Glu422=) c.1225G= (p.Glu409=) c.1528G= (p.Glu510=) c.1375G= (p.Glu459=) | |
| 8 | g.143728254C>G | CA372468129 | FAM83H | c.1207G>C (p.Glu403Gln) c.1810G>C (p.Glu604Gln) c.387G>C c.1264G>C (p.Glu422Gln) c.1225G>C (p.Glu409Gln) c.1528G>C (p.Glu510Gln) c.1375G>C (p.Glu459Gln) | |
| 8 | g.143728254C>T | CA372468130 | FAM83H | c.1207G>A (p.Glu403Lys) c.1810G>A (p.Glu604Lys) c.387G>A c.1264G>A (p.Glu422Lys) c.1225G>A (p.Glu409Lys) c.1528G>A (p.Glu510Lys) c.1375G>A (p.Glu459Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728255C>A | CA463519913 | FAM83H | c.1206G>T (p.Leu402=) c.1809G>T (p.Leu603=) c.386G>T c.1263G>T (p.Leu421=) c.1224G>T (p.Leu408=) c.1527G>T (p.Leu509=) c.1374G>T (p.Leu458=) | gnomAD v4 |
| 8 | g.143728255C= | CA1825940649 | FAM83H | c.1206G= (p.Leu402=) c.1809G= (p.Leu603=) c.386G= c.1263G= (p.Leu421=) c.1224G= (p.Leu408=) c.1527G= (p.Leu509=) c.1374G= (p.Leu458=) | |
| 8 | g.143728255C>G | CA463519911 | FAM83H | c.1206G>C (p.Leu402=) c.1809G>C (p.Leu603=) c.386G>C c.1263G>C (p.Leu421=) c.1224G>C (p.Leu408=) c.1527G>C (p.Leu509=) c.1374G>C (p.Leu458=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728255C>T | CA463519910 | FAM83H | c.1206G>A (p.Leu402=) c.1809G>A (p.Leu603=) c.386G>A c.1263G>A (p.Leu421=) c.1224G>A (p.Leu408=) c.1527G>A (p.Leu509=) c.1374G>A (p.Leu458=) | |
| 8 | g.143728256A>C | CA372468138 | FAM83H | c.1205T>G (p.Leu402Arg) c.1808T>G (p.Leu603Arg) c.385T>G c.1262T>G (p.Leu421Arg) c.1223T>G (p.Leu408Arg) c.1526T>G (p.Leu509Arg) c.1373T>G (p.Leu458Arg) | gnomAD v4 |
| 8 | g.143728256A>G | CA372468133 | FAM83H | c.1205T>C (p.Leu402Pro) c.1808T>C (p.Leu603Pro) c.385T>C c.1262T>C (p.Leu421Pro) c.1223T>C (p.Leu408Pro) c.1526T>C (p.Leu509Pro) c.1373T>C (p.Leu458Pro) | gnomAD v4 |
| 8 | g.143728256A>T | CA372468136 | FAM83H | c.1205T>A (p.Leu402Gln) c.1808T>A (p.Leu603Gln) c.385T>A c.1262T>A (p.Leu421Gln) c.1223T>A (p.Leu408Gln) c.1526T>A (p.Leu509Gln) c.1373T>A (p.Leu458Gln) | |
| 8 | g.143728257G>A | CA463519922 | FAM83H | c.1204C>T (p.Leu402=) c.1807C>T (p.Leu603=) c.384C>T c.1261C>T (p.Leu421=) c.1222C>T (p.Leu408=) c.1525C>T (p.Leu509=) c.1372C>T (p.Leu458=) | |
| 8 | g.143728257G>C | CA372468141 | FAM83H | c.1204C>G (p.Leu402Val) c.1807C>G (p.Leu603Val) c.384C>G c.1261C>G (p.Leu421Val) c.1222C>G (p.Leu408Val) c.1525C>G (p.Leu509Val) c.1372C>G (p.Leu458Val) | gnomAD v4 |
| 8 | g.143728257G>T | CA372468143 | FAM83H | c.1204C>A (p.Leu402Met) c.1807C>A (p.Leu603Met) c.384C>A c.1261C>A (p.Leu421Met) c.1222C>A (p.Leu408Met) c.1525C>A (p.Leu509Met) c.1372C>A (p.Leu458Met) | gnomAD v4 |
| 8 | g.143728258G>A | CA4917508 | FAM83H | c.1203C>T (p.His401=) c.1806C>T (p.His602=) c.383C>T c.1260C>T (p.His420=) c.1221C>T (p.His407=) c.1524C>T (p.His508=) c.1371C>T (p.His457=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728258G>C | CA372468149 | FAM83H | c.1203C>G (p.His401Gln) c.1806C>G (p.His602Gln) c.383C>G c.1260C>G (p.His420Gln) c.1221C>G (p.His407Gln) c.1524C>G (p.His508Gln) c.1371C>G (p.His457Gln) | |
| 8 | g.143728258G= | CA1825940650 | FAM83H | c.1203C= (p.His401=) c.1806C= (p.His602=) c.383C= c.1260C= (p.His420=) c.1221C= (p.His407=) c.1524C= (p.His508=) c.1371C= (p.His457=) | |
| 8 | g.143728258G>T | CA372468151 | FAM83H | c.1203C>A (p.His401Gln) c.1806C>A (p.His602Gln) c.383C>A c.1260C>A (p.His420Gln) c.1221C>A (p.His407Gln) c.1524C>A (p.His508Gln) c.1371C>A (p.His457Gln) | gnomAD v4 |
| 8 | g.143728259T>A | CA372468154 | FAM83H | c.1202A>T (p.His401Leu) c.1805A>T (p.His602Leu) c.382A>T c.1259A>T (p.His420Leu) c.1220A>T (p.His407Leu) c.1523A>T (p.His508Leu) c.1370A>T (p.His457Leu) | |
| 8 | g.143728259T>C | CA372468160 | FAM83H | c.1202A>G (p.His401Arg) c.1805A>G (p.His602Arg) c.382A>G c.1259A>G (p.His420Arg) c.1220A>G (p.His407Arg) c.1523A>G (p.His508Arg) c.1370A>G (p.His457Arg) | |
| 8 | g.143728259T>G | CA372468157 | FAM83H | c.1202A>C (p.His401Pro) c.1805A>C (p.His602Pro) c.382A>C c.1259A>C (p.His420Pro) c.1220A>C (p.His407Pro) c.1523A>C (p.His508Pro) c.1370A>C (p.His457Pro) | |
| 8 | g.143728260G>A | CA372468162 | FAM83H | c.1201C>T (p.His401Tyr) c.1804C>T (p.His602Tyr) c.381C>T c.1258C>T (p.His420Tyr) c.1219C>T (p.His407Tyr) c.1522C>T (p.His508Tyr) c.1369C>T (p.His457Tyr) | gnomAD v4 |
| 8 | g.143728260G>C | CA372468164 | FAM83H | c.1201C>G (p.His401Asp) c.1804C>G (p.His602Asp) c.381C>G c.1258C>G (p.His420Asp) c.1219C>G (p.His407Asp) c.1522C>G (p.His508Asp) c.1369C>G (p.His457Asp) | |
| 8 | g.143728260G>T | CA372468166 | FAM83H | c.1201C>A (p.His401Asn) c.1804C>A (p.His602Asn) c.381C>A c.1258C>A (p.His420Asn) c.1219C>A (p.His407Asn) c.1522C>A (p.His508Asn) c.1369C>A (p.His457Asn) | gnomAD v4 |
| 8 | g.143728266_143728331del | CA1120207142 | FAM83H | c.1136_1201del (p.Arg379_Arg400del) c.1739_1804del (p.Arg580_Arg601del) c.316_381del c.1193_1258del (p.Arg398_Arg419del) c.1154_1219del (p.Arg385_Arg406del) c.1457_1522del (p.Arg486_Arg507del) c.1304_1369del (p.Arg435_Arg456del) | gnomAD v3 gnomAD v4 |
| 8 | g.143728261C>A | CA463519937 | FAM83H | c.1200G>T (p.Arg400=) c.1803G>T (p.Arg601=) c.380G>T c.1257G>T (p.Arg419=) c.1218G>T (p.Arg406=) c.1521G>T (p.Arg507=) c.1368G>T (p.Arg456=) | |
| 8 | g.143728261C>G | CA463519938 | FAM83H | c.1200G>C (p.Arg400=) c.1803G>C (p.Arg601=) c.380G>C c.1257G>C (p.Arg419=) c.1218G>C (p.Arg406=) c.1521G>C (p.Arg507=) c.1368G>C (p.Arg456=) | |
| 8 | g.143728261C>T | CA463519935 | FAM83H | c.1200G>A (p.Arg400=) c.1803G>A (p.Arg601=) c.380G>A c.1257G>A (p.Arg419=) c.1218G>A (p.Arg406=) c.1521G>A (p.Arg507=) c.1368G>A (p.Arg456=) | gnomAD v4 |
| 8 | g.143728262C>A | CA372468168 | FAM83H | c.1199G>T (p.Arg400Leu) c.1802G>T (p.Arg601Leu) c.379G>T c.1256G>T (p.Arg419Leu) c.1217G>T (p.Arg406Leu) c.1520G>T (p.Arg507Leu) c.1367G>T (p.Arg456Leu) | gnomAD v4 |
| 8 | g.143728262C= | CA1825940651 | FAM83H | c.1199G= (p.Arg400=) c.1802G= (p.Arg601=) c.379G= c.1256G= (p.Arg419=) c.1217G= (p.Arg406=) c.1520G= (p.Arg507=) c.1367G= (p.Arg456=) | |
| 8 | g.143728262C>G | CA372468169 | FAM83H | c.1199G>C (p.Arg400Pro) c.1802G>C (p.Arg601Pro) c.379G>C c.1256G>C (p.Arg419Pro) c.1217G>C (p.Arg406Pro) c.1520G>C (p.Arg507Pro) c.1367G>C (p.Arg456Pro) | |
| 8 | g.143728262C>T | CA4917509 | FAM83H | c.1199G>A (p.Arg400Gln) c.1802G>A (p.Arg601Gln) c.379G>A c.1256G>A (p.Arg419Gln) c.1217G>A (p.Arg406Gln) c.1520G>A (p.Arg507Gln) c.1367G>A (p.Arg456Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728263G>A | CA372468179 | FAM83H | c.1198C>T (p.Arg400Trp) c.1801C>T (p.Arg601Trp) c.378C>T c.1255C>T (p.Arg419Trp) c.1216C>T (p.Arg406Trp) c.1519C>T (p.Arg507Trp) c.1366C>T (p.Arg456Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728263G>C | CA372468181 | FAM83H | c.1198C>G (p.Arg400Gly) c.1801C>G (p.Arg601Gly) c.378C>G c.1255C>G (p.Arg419Gly) c.1216C>G (p.Arg406Gly) c.1519C>G (p.Arg507Gly) c.1366C>G (p.Arg456Gly) | |
| 8 | g.143728263G= | CA1825940652 | FAM83H | c.1198C= (p.Arg400=) c.1801C= (p.Arg601=) c.378C= c.1255C= (p.Arg419=) c.1216C= (p.Arg406=) c.1519C= (p.Arg507=) c.1366C= (p.Arg456=) | |
| 8 | g.143728263G>T | CA463519949 | FAM83H | c.1198C>A (p.Arg400=) c.1801C>A (p.Arg601=) c.378C>A c.1255C>A (p.Arg419=) c.1216C>A (p.Arg406=) c.1519C>A (p.Arg507=) c.1366C>A (p.Arg456=) | gnomAD v4 |
| 8 | g.143728263_143728264delinsGC | CA1825940653 | FAM83H | c.1197_1198delinsGC (p.Ala399=) c.1800_1801delinsGC (p.Ala600=) c.377_378delinsGC c.1254_1255delinsGC (p.Ala418=) c.1215_1216delinsGC (p.Ala405=) c.1518_1519delinsGC (p.Ala506=) c.1365_1366delinsGC (p.Ala455=) | |
| 8 | g.143728264del | CA1825940654 | FAM83H | c.1197del (p.Arg400GlyfsTer?) c.1800del (p.Arg601GlyfsTer?) c.377del c.1254del (p.Arg419GlyfsTer?) c.1215del (p.Arg406GlyfsTer?) c.1518del (p.Arg507GlyfsTer?) c.1365del (p.Arg456GlyfsTer?) | dbSNP |
| 8 | g.143728264C>A | CA463519960 | FAM83H | c.1197G>T (p.Ala399=) c.1800G>T (p.Ala600=) c.377G>T c.1254G>T (p.Ala418=) c.1215G>T (p.Ala405=) c.1518G>T (p.Ala506=) c.1365G>T (p.Ala455=) | gnomAD v4 |
| 8 | g.143728264C= | CA1825940655 | FAM83H | c.1197G= (p.Ala399=) c.1800G= (p.Ala600=) c.377G= c.1254G= (p.Ala418=) c.1215G= (p.Ala405=) c.1518G= (p.Ala506=) c.1365G= (p.Ala455=) | |
| 8 | g.143728264C>G | CA463519958 | FAM83H | c.1197G>C (p.Ala399=) c.1800G>C (p.Ala600=) c.377G>C c.1254G>C (p.Ala418=) c.1215G>C (p.Ala405=) c.1518G>C (p.Ala506=) c.1365G>C (p.Ala455=) | dbSNP |
| 8 | g.143728264C>T | CA463519955 | FAM83H | c.1197G>A (p.Ala399=) c.1800G>A (p.Ala600=) c.377G>A c.1254G>A (p.Ala418=) c.1215G>A (p.Ala405=) c.1518G>A (p.Ala506=) c.1365G>A (p.Ala455=) | gnomAD v4 |
| 8 | g.143728265G>A | CA372468184 | FAM83H | c.1196C>T (p.Ala399Val) c.1799C>T (p.Ala600Val) c.376C>T c.1253C>T (p.Ala418Val) c.1214C>T (p.Ala405Val) c.1517C>T (p.Ala506Val) c.1364C>T (p.Ala455Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728265G>C | CA372468187 | FAM83H | c.1196C>G (p.Ala399Gly) c.1799C>G (p.Ala600Gly) c.376C>G c.1253C>G (p.Ala418Gly) c.1214C>G (p.Ala405Gly) c.1517C>G (p.Ala506Gly) c.1364C>G (p.Ala455Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728265G= | CA1825940656 | FAM83H | c.1196C= (p.Ala399=) c.1799C= (p.Ala600=) c.376C= c.1253C= (p.Ala418=) c.1214C= (p.Ala405=) c.1517C= (p.Ala506=) c.1364C= (p.Ala455=) | |
| 8 | g.143728265G>T | CA372468189 | FAM83H | c.1196C>A (p.Ala399Glu) c.1799C>A (p.Ala600Glu) c.376C>A c.1253C>A (p.Ala418Glu) c.1214C>A (p.Ala405Glu) c.1517C>A (p.Ala506Glu) c.1364C>A (p.Ala455Glu) | gnomAD v4 |
| 8 | g.143728266C>A | CA372468192 | FAM83H | c.1195G>T (p.Ala399Ser) c.1798G>T (p.Ala600Ser) c.375G>T c.1252G>T (p.Ala418Ser) c.1213G>T (p.Ala405Ser) c.1516G>T (p.Ala506Ser) c.1363G>T (p.Ala455Ser) | gnomAD v4 |
| 8 | g.143728266C>G | CA372468191 | FAM83H | c.1195G>C (p.Ala399Pro) c.1798G>C (p.Ala600Pro) c.375G>C c.1252G>C (p.Ala418Pro) c.1213G>C (p.Ala405Pro) c.1516G>C (p.Ala506Pro) c.1363G>C (p.Ala455Pro) | |
| 8 | g.143728266C>T | CA372468190 | FAM83H | c.1195G>A (p.Ala399Thr) c.1798G>A (p.Ala600Thr) c.375G>A c.1252G>A (p.Ala418Thr) c.1213G>A (p.Ala405Thr) c.1516G>A (p.Ala506Thr) c.1363G>A (p.Ala455Thr) | COSMIC |
| 8 | g.143728267C>A | CA372468196 | FAM83H | c.1194G>T (p.Gln398His) c.1797G>T (p.Gln599His) c.374G>T c.1251G>T (p.Gln417His) c.1212G>T (p.Gln404His) c.1515G>T (p.Gln505His) c.1362G>T (p.Gln454His) | gnomAD v4 |
| 8 | g.143728267C>G | CA372468193 | FAM83H | c.1194G>C (p.Gln398His) c.1797G>C (p.Gln599His) c.374G>C c.1251G>C (p.Gln417His) c.1212G>C (p.Gln404His) c.1515G>C (p.Gln505His) c.1362G>C (p.Gln454His) | |
| 8 | g.143728267C>T | CA463519964 | FAM83H | c.1194G>A (p.Gln398=) c.1797G>A (p.Gln599=) c.374G>A c.1251G>A (p.Gln417=) c.1212G>A (p.Gln404=) c.1515G>A (p.Gln505=) c.1362G>A (p.Gln454=) | |
| 8 | g.143728268T>A | CA372468198 | FAM83H | c.1193A>T (p.Gln398Leu) c.1796A>T (p.Gln599Leu) c.373A>T c.1250A>T (p.Gln417Leu) c.1211A>T (p.Gln404Leu) c.1514A>T (p.Gln505Leu) c.1361A>T (p.Gln454Leu) | |
| 8 | g.143728268T>C | CA372468202 | FAM83H | c.1193A>G (p.Gln398Arg) c.1796A>G (p.Gln599Arg) c.373A>G c.1250A>G (p.Gln417Arg) c.1211A>G (p.Gln404Arg) c.1514A>G (p.Gln505Arg) c.1361A>G (p.Gln454Arg) | gnomAD v4 |
| 8 | g.143728268T>G | CA372468204 | FAM83H | c.1193A>C (p.Gln398Pro) c.1796A>C (p.Gln599Pro) c.373A>C c.1250A>C (p.Gln417Pro) c.1211A>C (p.Gln404Pro) c.1514A>C (p.Gln505Pro) c.1361A>C (p.Gln454Pro) | |
| 8 | g.143728268_143728269delinsTG | CA1825940657 | FAM83H | c.1192_1193delinsCA (p.Gln398=) c.1795_1796delinsCA (p.Gln599=) c.372_373delinsCA c.1249_1250delinsCA (p.Gln417=) c.1210_1211delinsCA (p.Gln404=) c.1513_1514delinsCA (p.Gln505=) c.1360_1361delinsCA (p.Gln454=) | |
| 8 | g.143728269G>A | CA114493 | FAM83H | c.1192C>T (p.Gln398Ter) c.1795C>T (p.Gln599Ter) c.372C>T c.1249C>T (p.Gln417Ter) c.1210C>T (p.Gln404Ter) c.1513C>T (p.Gln505Ter) c.1360C>T (p.Gln454Ter) | ClinVar dbSNP |
| 8 | g.143728269G>C | CA372468207 | FAM83H | c.1192C>G (p.Gln398Glu) c.1795C>G (p.Gln599Glu) c.372C>G c.1249C>G (p.Gln417Glu) c.1210C>G (p.Gln404Glu) c.1513C>G (p.Gln505Glu) c.1360C>G (p.Gln454Glu) | |
| 8 | g.143728269G= | CA1825940658 | FAM83H | c.1192C= (p.Gln398=) c.1795C= (p.Gln599=) c.372C= c.1249C= (p.Gln417=) c.1210C= (p.Gln404=) c.1513C= (p.Gln505=) c.1360C= (p.Gln454=) | |
| 8 | g.143728269G>T | CA372468209 | FAM83H | c.1192C>A (p.Gln398Lys) c.1795C>A (p.Gln599Lys) c.372C>A c.1249C>A (p.Gln417Lys) c.1210C>A (p.Gln404Lys) c.1513C>A (p.Gln505Lys) c.1360C>A (p.Gln454Lys) | gnomAD v4 |
| 8 | g.143728270del | CA1120207161 | FAM83H | c.1192del (p.Gln398ArgfsTer?) c.1795del (p.Gln599ArgfsTer?) c.372del c.1249del (p.Gln417ArgfsTer?) c.1210del (p.Gln404ArgfsTer?) c.1513del (p.Gln505ArgfsTer?) c.1360del (p.Gln454ArgfsTer?) | dbSNP gnomAD v3 gnomAD v4 |