| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.143728540_143728541del | CA114510 | FAM83H | c.923_924del (p.Leu308ArgfsTer16) c.1526_1527del (p.Leu509ArgfsTer16) c.103_104del c.980_981del (p.Leu327ArgfsTer16) c.941_942del (p.Leu314ArgfsTer16) c.1244_1245del (p.Leu415ArgfsTer16) c.1091_1092del (p.Leu364ArgfsTer16) | ClinVar dbSNP |
| 8 | g.143728539G>A | CA372469087 | FAM83H | c.922C>T (p.Leu308Phe) c.1525C>T (p.Leu509Phe) c.102C>T c.979C>T (p.Leu327Phe) c.940C>T (p.Leu314Phe) c.1243C>T (p.Leu415Phe) c.1090C>T (p.Leu364Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728539G>C | CA4917553 | FAM83H | c.922C>G (p.Leu308Val) c.1525C>G (p.Leu509Val) c.102C>G c.979C>G (p.Leu327Val) c.940C>G (p.Leu314Val) c.1243C>G (p.Leu415Val) c.1090C>G (p.Leu364Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728539G= | CA1825940834 | FAM83H | c.922C= (p.Leu308=) c.1525C= (p.Leu509=) c.102C= c.979C= (p.Leu327=) c.940C= (p.Leu314=) c.1243C= (p.Leu415=) c.1090C= (p.Leu364=) | |
| 8 | g.143728539G>T | CA372469089 | FAM83H | c.922C>A (p.Leu308Ile) c.1525C>A (p.Leu509Ile) c.102C>A c.979C>A (p.Leu327Ile) c.940C>A (p.Leu314Ile) c.1243C>A (p.Leu415Ile) c.1090C>A (p.Leu364Ile) | |
| 8 | g.143728540A= | CA1825940835 | FAM83H | c.921T= (p.Pro307=) c.1524T= (p.Pro508=) c.101T= c.978T= (p.Pro326=) c.939T= (p.Pro313=) c.1242T= (p.Pro414=) c.1089T= (p.Pro363=) | |
| 8 | g.143728540A>C | CA463519929 | FAM83H | c.921T>G (p.Pro307=) c.1524T>G (p.Pro508=) c.101T>G c.978T>G (p.Pro326=) c.939T>G (p.Pro313=) c.1242T>G (p.Pro414=) c.1089T>G (p.Pro363=) | dbSNP gnomAD v4 |
| 8 | g.143728540A>G | CA463519930 | FAM83H | c.921T>C (p.Pro307=) c.1524T>C (p.Pro508=) c.101T>C c.978T>C (p.Pro326=) c.939T>C (p.Pro313=) c.1242T>C (p.Pro414=) c.1089T>C (p.Pro363=) | |
| 8 | g.143728540A>T | CA463519928 | FAM83H | c.921T>A (p.Pro307=) c.1524T>A (p.Pro508=) c.101T>A c.978T>A (p.Pro326=) c.939T>A (p.Pro313=) c.1242T>A (p.Pro414=) c.1089T>A (p.Pro363=) | |
| 8 | g.143728540_143728545dup | CA2688981279 | FAM83H | c.916_921dup (p.Pro307_Leu308insGlyPro) c.1519_1524dup (p.Pro508_Leu509insGlyPro) c.96_101dup c.973_978dup (p.Pro326_Leu327insGlyPro) c.934_939dup (p.Pro313_Leu314insGlyPro) c.1237_1242dup (p.Pro414_Leu415insGlyPro) c.1084_1089dup (p.Pro363_Leu364insGlyPro) | gnomAD v4 |
| 8 | g.143728541G>A | CA372469092 | FAM83H | c.920C>T (p.Pro307Leu) c.1523C>T (p.Pro508Leu) c.100C>T c.977C>T (p.Pro326Leu) c.938C>T (p.Pro313Leu) c.1241C>T (p.Pro414Leu) c.1088C>T (p.Pro363Leu) | |
| 8 | g.143728541G>C | CA372469094 | FAM83H | c.920C>G (p.Pro307Arg) c.1523C>G (p.Pro508Arg) c.100C>G c.977C>G (p.Pro326Arg) c.938C>G (p.Pro313Arg) c.1241C>G (p.Pro414Arg) c.1088C>G (p.Pro363Arg) | |
| 8 | g.143728541G>T | CA372469096 | FAM83H | c.920C>A (p.Pro307His) c.1523C>A (p.Pro508His) c.100C>A c.977C>A (p.Pro326His) c.938C>A (p.Pro313His) c.1241C>A (p.Pro414His) c.1088C>A (p.Pro363His) | |
| 8 | g.143728542G>A | CA372469097 | FAM83H | c.919C>T (p.Pro307Ser) c.1522C>T (p.Pro508Ser) c.99C>T c.976C>T (p.Pro326Ser) c.937C>T (p.Pro313Ser) c.1240C>T (p.Pro414Ser) c.1087C>T (p.Pro363Ser) | gnomAD v4 |
| 8 | g.143728542G>C | CA372469098 | FAM83H | c.919C>G (p.Pro307Ala) c.1522C>G (p.Pro508Ala) c.99C>G c.976C>G (p.Pro326Ala) c.937C>G (p.Pro313Ala) c.1240C>G (p.Pro414Ala) c.1087C>G (p.Pro363Ala) | |
| 8 | g.143728542G= | CA1825940836 | FAM83H | c.919C= (p.Pro307=) c.1522C= (p.Pro508=) c.99C= c.976C= (p.Pro326=) c.937C= (p.Pro313=) c.1240C= (p.Pro414=) c.1087C= (p.Pro363=) | |
| 8 | g.143728542G>T | CA372469099 | FAM83H | c.919C>A (p.Pro307Thr) c.1522C>A (p.Pro508Thr) c.99C>A c.976C>A (p.Pro326Thr) c.937C>A (p.Pro313Thr) c.1240C>A (p.Pro414Thr) c.1087C>A (p.Pro363Thr) | gnomAD v4 |
| 8 | g.143728543C>A | CA463519943 | FAM83H | c.918G>T (p.Gly306=) c.1521G>T (p.Gly507=) c.98G>T c.975G>T (p.Gly325=) c.936G>T (p.Gly312=) c.1239G>T (p.Gly413=) c.1086G>T (p.Gly362=) | |
| 8 | g.143728543C>G | CA463519942 | FAM83H | c.918G>C (p.Gly306=) c.1521G>C (p.Gly507=) c.98G>C c.975G>C (p.Gly325=) c.936G>C (p.Gly312=) c.1239G>C (p.Gly413=) c.1086G>C (p.Gly362=) | |
| 8 | g.143728543C>T | CA463519941 | FAM83H | c.918G>A (p.Gly306=) c.1521G>A (p.Gly507=) c.98G>A c.975G>A (p.Gly325=) c.936G>A (p.Gly312=) c.1239G>A (p.Gly413=) c.1086G>A (p.Gly362=) | |
| 8 | g.143728549_143728554dup | CA585729885 | FAM83H | c.913_918dup (p.Gly306_Pro307insAlaGly) c.1516_1521dup (p.Gly507_Pro508insAlaGly) c.93_98dup c.970_975dup (p.Gly325_Pro326insAlaGly) c.931_936dup (p.Gly312_Pro313insAlaGly) c.1234_1239dup (p.Gly413_Pro414insAlaGly) c.1081_1086dup (p.Gly362_Pro363insAlaGly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728544C>A | CA372469103 | FAM83H | c.917G>T (p.Gly306Val) c.1520G>T (p.Gly507Val) c.97G>T c.974G>T (p.Gly325Val) c.935G>T (p.Gly312Val) c.1238G>T (p.Gly413Val) c.1085G>T (p.Gly362Val) | dbSNP gnomAD v4 |
| 8 | g.143728544C= | CA1825940837 | FAM83H | c.917G= (p.Gly306=) c.1520G= (p.Gly507=) c.97G= c.974G= (p.Gly325=) c.935G= (p.Gly312=) c.1238G= (p.Gly413=) c.1085G= (p.Gly362=) | |
| 8 | g.143728544C>G | CA372469104 | FAM83H | c.917G>C (p.Gly306Ala) c.1520G>C (p.Gly507Ala) c.97G>C c.974G>C (p.Gly325Ala) c.935G>C (p.Gly312Ala) c.1238G>C (p.Gly413Ala) c.1085G>C (p.Gly362Ala) | |
| 8 | g.143728544C>T | CA372469102 | FAM83H | c.917G>A (p.Gly306Glu) c.1520G>A (p.Gly507Glu) c.97G>A c.974G>A (p.Gly325Glu) c.935G>A (p.Gly312Glu) c.1238G>A (p.Gly413Glu) c.1085G>A (p.Gly362Glu) | gnomAD v4 |
| 8 | g.143728545C>A | CA372469107 | FAM83H | c.916G>T (p.Gly306Trp) c.1519G>T (p.Gly507Trp) c.96G>T c.973G>T (p.Gly325Trp) c.934G>T (p.Gly312Trp) c.1237G>T (p.Gly413Trp) c.1084G>T (p.Gly362Trp) | |
| 8 | g.143728545C= | CA1825940838 | FAM83H | c.916G= (p.Gly306=) c.1519G= (p.Gly507=) c.96G= c.973G= (p.Gly325=) c.934G= (p.Gly312=) c.1237G= (p.Gly413=) c.1084G= (p.Gly362=) | |
| 8 | g.143728545C>G | CA372469109 | FAM83H | c.916G>C (p.Gly306Arg) c.1519G>C (p.Gly507Arg) c.96G>C c.973G>C (p.Gly325Arg) c.934G>C (p.Gly312Arg) c.1237G>C (p.Gly413Arg) c.1084G>C (p.Gly362Arg) | |
| 8 | g.143728545C>T | CA372469110 | FAM83H | c.916G>A (p.Gly306Arg) c.1519G>A (p.Gly507Arg) c.96G>A c.973G>A (p.Gly325Arg) c.934G>A (p.Gly312Arg) c.1237G>A (p.Gly413Arg) c.1084G>A (p.Gly362Arg) | dbSNP gnomAD v4 |
| 8 | g.143728546G>A | CA4917554 | FAM83H | c.915C>T (p.Ala305=) c.1518C>T (p.Ala506=) c.95C>T c.972C>T (p.Ala324=) c.933C>T (p.Ala311=) c.1236C>T (p.Ala412=) c.1083C>T (p.Ala361=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728546G>C | CA463519950 | FAM83H | c.915C>G (p.Ala305=) c.1518C>G (p.Ala506=) c.95C>G c.972C>G (p.Ala324=) c.933C>G (p.Ala311=) c.1236C>G (p.Ala412=) c.1083C>G (p.Ala361=) | |
| 8 | g.143728546G= | CA1825940839 | FAM83H | c.915C= (p.Ala305=) c.1518C= (p.Ala506=) c.95C= c.972C= (p.Ala324=) c.933C= (p.Ala311=) c.1236C= (p.Ala412=) c.1083C= (p.Ala361=) | |
| 8 | g.143728546G>T | CA463519952 | FAM83H | c.915C>A (p.Ala305=) c.1518C>A (p.Ala506=) c.95C>A c.972C>A (p.Ala324=) c.933C>A (p.Ala311=) c.1236C>A (p.Ala412=) c.1083C>A (p.Ala361=) | |
| 8 | g.143728547G>A | CA4917555 | FAM83H | c.914C>T (p.Ala305Val) c.1517C>T (p.Ala506Val) c.94C>T c.971C>T (p.Ala324Val) c.932C>T (p.Ala311Val) c.1235C>T (p.Ala412Val) c.1082C>T (p.Ala361Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728547G>C | CA372469113 | FAM83H | c.914C>G (p.Ala305Gly) c.1517C>G (p.Ala506Gly) c.94C>G c.971C>G (p.Ala324Gly) c.932C>G (p.Ala311Gly) c.1235C>G (p.Ala412Gly) c.1082C>G (p.Ala361Gly) | |
| 8 | g.143728547G= | CA1825940840 | FAM83H | c.914C= (p.Ala305=) c.1517C= (p.Ala506=) c.94C= c.971C= (p.Ala324=) c.932C= (p.Ala311=) c.1235C= (p.Ala412=) c.1082C= (p.Ala361=) | |
| 8 | g.143728547G>T | CA372469114 | FAM83H | c.914C>A (p.Ala305Asp) c.1517C>A (p.Ala506Asp) c.94C>A c.971C>A (p.Ala324Asp) c.932C>A (p.Ala311Asp) c.1235C>A (p.Ala412Asp) c.1082C>A (p.Ala361Asp) | |
| 8 | g.143728548C>A | CA372469116 | FAM83H | c.913G>T (p.Ala305Ser) c.1516G>T (p.Ala506Ser) c.93G>T c.970G>T (p.Ala324Ser) c.931G>T (p.Ala311Ser) c.1234G>T (p.Ala412Ser) c.1081G>T (p.Ala361Ser) | gnomAD v4 |
| 8 | g.143728548C= | CA1825940841 | FAM83H | c.913G= (p.Ala305=) c.1516G= (p.Ala506=) c.93G= c.970G= (p.Ala324=) c.931G= (p.Ala311=) c.1234G= (p.Ala412=) c.1081G= (p.Ala361=) | |
| 8 | g.143728548C>G | CA372469120 | FAM83H | c.913G>C (p.Ala305Pro) c.1516G>C (p.Ala506Pro) c.93G>C c.970G>C (p.Ala324Pro) c.931G>C (p.Ala311Pro) c.1234G>C (p.Ala412Pro) c.1081G>C (p.Ala361Pro) | |
| 8 | g.143728548C>T | CA187605611 | FAM83H | c.913G>A (p.Ala305Thr) c.1516G>A (p.Ala506Thr) c.93G>A c.970G>A (p.Ala324Thr) c.931G>A (p.Ala311Thr) c.1234G>A (p.Ala412Thr) c.1081G>A (p.Ala361Thr) | dbSNP gnomAD v4 |
| 8 | g.143728551del | CA2573052982 | FAM83H | c.913del (p.Ala305ProfsTer?) c.1516del (p.Ala506ProfsTer?) c.93del c.970del (p.Ala324ProfsTer?) c.931del (p.Ala311ProfsTer?) c.1234del (p.Ala412ProfsTer?) c.1081del (p.Ala361ProfsTer?) | dbSNP gnomAD v4 |
| 8 | g.143728549C>A | CA463519961 | FAM83H | c.912G>T (p.Gly304=) c.1515G>T (p.Gly505=) c.92G>T c.969G>T (p.Gly323=) c.930G>T (p.Gly310=) c.1233G>T (p.Gly411=) c.1080G>T (p.Gly360=) | |
| 8 | g.143728549C>G | CA463519962 | FAM83H | c.912G>C (p.Gly304=) c.1515G>C (p.Gly505=) c.92G>C c.969G>C (p.Gly323=) c.930G>C (p.Gly310=) c.1233G>C (p.Gly411=) c.1080G>C (p.Gly360=) | |
| 8 | g.143728549C>T | CA463519963 | FAM83H | c.912G>A (p.Gly304=) c.1515G>A (p.Gly505=) c.92G>A c.969G>A (p.Gly323=) c.930G>A (p.Gly310=) c.1233G>A (p.Gly411=) c.1080G>A (p.Gly360=) | |
| 8 | g.143728550C>A | CA372469123 | FAM83H | c.911G>T (p.Gly304Val) c.1514G>T (p.Gly505Val) c.91G>T c.968G>T (p.Gly323Val) c.929G>T (p.Gly310Val) c.1232G>T (p.Gly411Val) c.1079G>T (p.Gly360Val) | gnomAD v4 |
| 8 | g.143728550C= | CA1825940842 | FAM83H | c.911G= (p.Gly304=) c.1514G= (p.Gly505=) c.91G= c.968G= (p.Gly323=) c.929G= (p.Gly310=) c.1232G= (p.Gly411=) c.1079G= (p.Gly360=) | |
| 8 | g.143728550C>G | CA372469125 | FAM83H | c.911G>C (p.Gly304Ala) c.1514G>C (p.Gly505Ala) c.91G>C c.968G>C (p.Gly323Ala) c.929G>C (p.Gly310Ala) c.1232G>C (p.Gly411Ala) c.1079G>C (p.Gly360Ala) | |
| 8 | g.143728550C>T | CA372469127 | FAM83H | c.911G>A (p.Gly304Glu) c.1514G>A (p.Gly505Glu) c.91G>A c.968G>A (p.Gly323Glu) c.929G>A (p.Gly310Glu) c.1232G>A (p.Gly411Glu) c.1079G>A (p.Gly360Glu) | dbSNP gnomAD v2 |
| 8 | g.143728551C>A | CA372469134 | FAM83H | c.910G>T (p.Gly304Trp) c.1513G>T (p.Gly505Trp) c.90G>T c.967G>T (p.Gly323Trp) c.928G>T (p.Gly310Trp) c.1231G>T (p.Gly411Trp) c.1078G>T (p.Gly360Trp) | dbSNP gnomAD v4 |
| 8 | g.143728551C= | CA1825940843 | FAM83H | c.910G= (p.Gly304=) c.1513G= (p.Gly505=) c.90G= c.967G= (p.Gly323=) c.928G= (p.Gly310=) c.1231G= (p.Gly411=) c.1078G= (p.Gly360=) | |
| 8 | g.143728551C>G | CA372469133 | FAM83H | c.910G>C (p.Gly304Arg) c.1513G>C (p.Gly505Arg) c.90G>C c.967G>C (p.Gly323Arg) c.928G>C (p.Gly310Arg) c.1231G>C (p.Gly411Arg) c.1078G>C (p.Gly360Arg) | dbSNP gnomAD v4 |
| 8 | g.143728551C>T | CA372469129 | FAM83H | c.910G>A (p.Gly304Arg) c.1513G>A (p.Gly505Arg) c.90G>A c.967G>A (p.Gly323Arg) c.928G>A (p.Gly310Arg) c.1231G>A (p.Gly411Arg) c.1078G>A (p.Gly360Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.143728552G>A | CA4917556 | FAM83H | c.909C>T (p.Ala303=) c.1512C>T (p.Ala504=) c.89C>T c.966C>T (p.Ala322=) c.927C>T (p.Ala309=) c.1230C>T (p.Ala410=) c.1077C>T (p.Ala359=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728552G>C | CA463519970 | FAM83H | c.909C>G (p.Ala303=) c.1512C>G (p.Ala504=) c.89C>G c.966C>G (p.Ala322=) c.927C>G (p.Ala309=) c.1230C>G (p.Ala410=) c.1077C>G (p.Ala359=) | |
| 8 | g.143728552G= | CA1825940844 | FAM83H | c.909C= (p.Ala303=) c.1512C= (p.Ala504=) c.89C= c.966C= (p.Ala322=) c.927C= (p.Ala309=) c.1230C= (p.Ala410=) c.1077C= (p.Ala359=) | |
| 8 | g.143728552G>T | CA463519971 | FAM83H | c.909C>A (p.Ala303=) c.1512C>A (p.Ala504=) c.89C>A c.966C>A (p.Ala322=) c.927C>A (p.Ala309=) c.1230C>A (p.Ala410=) c.1077C>A (p.Ala359=) | gnomAD v4 |
| 8 | g.143728553G>A | CA372469138 | FAM83H | c.908C>T (p.Ala303Val) c.1511C>T (p.Ala504Val) c.88C>T c.965C>T (p.Ala322Val) c.926C>T (p.Ala309Val) c.1229C>T (p.Ala410Val) c.1076C>T (p.Ala359Val) | gnomAD v4 |
| 8 | g.143728553G>C | CA372469140 | FAM83H | c.908C>G (p.Ala303Gly) c.1511C>G (p.Ala504Gly) c.88C>G c.965C>G (p.Ala322Gly) c.926C>G (p.Ala309Gly) c.1229C>G (p.Ala410Gly) c.1076C>G (p.Ala359Gly) | |
| 8 | g.143728553G>T | CA372469142 | FAM83H | c.908C>A (p.Ala303Asp) c.1511C>A (p.Ala504Asp) c.88C>A c.965C>A (p.Ala322Asp) c.926C>A (p.Ala309Asp) c.1229C>A (p.Ala410Asp) c.1076C>A (p.Ala359Asp) | gnomAD v4 |
| 8 | g.143728554C>A | CA372469144 | FAM83H | c.907G>T (p.Ala303Ser) c.1510G>T (p.Ala504Ser) c.87G>T c.964G>T (p.Ala322Ser) c.925G>T (p.Ala309Ser) c.1228G>T (p.Ala410Ser) c.1075G>T (p.Ala359Ser) | |
| 8 | g.143728554C>G | CA372469148 | FAM83H | c.907G>C (p.Ala303Pro) c.1510G>C (p.Ala504Pro) c.87G>C c.964G>C (p.Ala322Pro) c.925G>C (p.Ala309Pro) c.1228G>C (p.Ala410Pro) c.1075G>C (p.Ala359Pro) | |
| 8 | g.143728554C>T | CA372469150 | FAM83H | c.907G>A (p.Ala303Thr) c.1510G>A (p.Ala504Thr) c.87G>A c.964G>A (p.Ala322Thr) c.925G>A (p.Ala309Thr) c.1228G>A (p.Ala410Thr) c.1075G>A (p.Ala359Thr) | |
| 8 | g.143728555A>C | CA372469152 | FAM83H | c.906T>G (p.Tyr302Ter) c.1509T>G (p.Tyr503Ter) c.86T>G c.963T>G (p.Tyr321Ter) c.924T>G (p.Tyr308Ter) c.1227T>G (p.Tyr409Ter) c.1074T>G (p.Tyr358Ter) | |
| 8 | g.143728555A>G | CA463519976 | FAM83H | c.906T>C (p.Tyr302=) c.1509T>C (p.Tyr503=) c.86T>C c.963T>C (p.Tyr321=) c.924T>C (p.Tyr308=) c.1227T>C (p.Tyr409=) c.1074T>C (p.Tyr358=) | gnomAD v4 |
| 8 | g.143728555A>T | CA372469153 | FAM83H | c.906T>A (p.Tyr302Ter) c.1509T>A (p.Tyr503Ter) c.86T>A c.963T>A (p.Tyr321Ter) c.924T>A (p.Tyr308Ter) c.1227T>A (p.Tyr409Ter) c.1074T>A (p.Tyr358Ter) | |
| 8 | g.143728556T>A | CA372469156 | FAM83H | c.905A>T (p.Tyr302Phe) c.1508A>T (p.Tyr503Phe) c.85A>T c.962A>T (p.Tyr321Phe) c.923A>T (p.Tyr308Phe) c.1226A>T (p.Tyr409Phe) c.1073A>T (p.Tyr358Phe) | dbSNP |
| 8 | g.143728556T>C | CA372469158 | FAM83H | c.905A>G (p.Tyr302Cys) c.1508A>G (p.Tyr503Cys) c.85A>G c.962A>G (p.Tyr321Cys) c.923A>G (p.Tyr308Cys) c.1226A>G (p.Tyr409Cys) c.1073A>G (p.Tyr358Cys) | |
| 8 | g.143728556T>G | CA372469159 | FAM83H | c.905A>C (p.Tyr302Ser) c.1508A>C (p.Tyr503Ser) c.85A>C c.962A>C (p.Tyr321Ser) c.923A>C (p.Tyr308Ser) c.1226A>C (p.Tyr409Ser) c.1073A>C (p.Tyr358Ser) | |
| 8 | g.143728556T= | CA1825940845 | FAM83H | c.905A= (p.Tyr302=) c.1508A= (p.Tyr503=) c.85A= c.962A= (p.Tyr321=) c.923A= (p.Tyr308=) c.1226A= (p.Tyr409=) c.1073A= (p.Tyr358=) | |
| 8 | g.143728557A>C | CA372469165 | FAM83H | c.904T>G (p.Tyr302Asp) c.1507T>G (p.Tyr503Asp) c.84T>G c.961T>G (p.Tyr321Asp) c.922T>G (p.Tyr308Asp) c.1225T>G (p.Tyr409Asp) c.1072T>G (p.Tyr358Asp) | |
| 8 | g.143728557A>G | CA372469163 | FAM83H | c.904T>C (p.Tyr302His) c.1507T>C (p.Tyr503His) c.84T>C c.961T>C (p.Tyr321His) c.922T>C (p.Tyr308His) c.1225T>C (p.Tyr409His) c.1072T>C (p.Tyr358His) | |
| 8 | g.143728557A>T | CA372469161 | FAM83H | c.904T>A (p.Tyr302Asn) c.1507T>A (p.Tyr503Asn) c.84T>A c.961T>A (p.Tyr321Asn) c.922T>A (p.Tyr308Asn) c.1225T>A (p.Tyr409Asn) c.1072T>A (p.Tyr358Asn) | |
| 8 | g.143728558C>A | CA4917557 | FAM83H | c.903G>T (p.Pro301=) c.1506G>T (p.Pro502=) c.83G>T c.960G>T (p.Pro320=) c.921G>T (p.Pro307=) c.1224G>T (p.Pro408=) c.1071G>T (p.Pro357=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728558C= | CA1825940846 | FAM83H | c.903G= (p.Pro301=) c.1506G= (p.Pro502=) c.83G= c.960G= (p.Pro320=) c.921G= (p.Pro307=) c.1224G= (p.Pro408=) c.1071G= (p.Pro357=) | |
| 8 | g.143728558C>G | CA4917559 | FAM83H | c.903G>C (p.Pro301=) c.1506G>C (p.Pro502=) c.83G>C c.960G>C (p.Pro320=) c.921G>C (p.Pro307=) c.1224G>C (p.Pro408=) c.1071G>C (p.Pro357=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728558C>T | CA4917558 | FAM83H | c.903G>A (p.Pro301=) c.1506G>A (p.Pro502=) c.83G>A c.960G>A (p.Pro320=) c.921G>A (p.Pro307=) c.1224G>A (p.Pro408=) c.1071G>A (p.Pro357=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728559G>A | CA372469170 | FAM83H | c.902C>T (p.Pro301Leu) c.1505C>T (p.Pro502Leu) c.82C>T c.959C>T (p.Pro320Leu) c.920C>T (p.Pro307Leu) c.1223C>T (p.Pro408Leu) c.1070C>T (p.Pro357Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728559G>C | CA4917560 | FAM83H | c.902C>G (p.Pro301Arg) c.1505C>G (p.Pro502Arg) c.82C>G c.959C>G (p.Pro320Arg) c.920C>G (p.Pro307Arg) c.1223C>G (p.Pro408Arg) c.1070C>G (p.Pro357Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728559G= | CA1825940847 | FAM83H | c.902C= (p.Pro301=) c.1505C= (p.Pro502=) c.82C= c.959C= (p.Pro320=) c.920C= (p.Pro307=) c.1223C= (p.Pro408=) c.1070C= (p.Pro357=) | |
| 8 | g.143728559G>T | CA372469173 | FAM83H | c.902C>A (p.Pro301Gln) c.1505C>A (p.Pro502Gln) c.82C>A c.959C>A (p.Pro320Gln) c.920C>A (p.Pro307Gln) c.1223C>A (p.Pro408Gln) c.1070C>A (p.Pro357Gln) | gnomAD v4 |
| 8 | g.143728560G>A | CA4917561 | FAM83H | c.901C>T (p.Pro301Ser) c.1504C>T (p.Pro502Ser) c.81C>T c.958C>T (p.Pro320Ser) c.919C>T (p.Pro307Ser) c.1222C>T (p.Pro408Ser) c.1069C>T (p.Pro357Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728560G>C | CA372469176 | FAM83H | c.901C>G (p.Pro301Ala) c.1504C>G (p.Pro502Ala) c.81C>G c.958C>G (p.Pro320Ala) c.919C>G (p.Pro307Ala) c.1222C>G (p.Pro408Ala) c.1069C>G (p.Pro357Ala) | |
| 8 | g.143728560G= | CA1825940848 | FAM83H | c.901C= (p.Pro301=) c.1504C= (p.Pro502=) c.81C= c.958C= (p.Pro320=) c.919C= (p.Pro307=) c.1222C= (p.Pro408=) c.1069C= (p.Pro357=) | |
| 8 | g.143728560G>T | CA372469179 | FAM83H | c.901C>A (p.Pro301Thr) c.1504C>A (p.Pro502Thr) c.81C>A c.958C>A (p.Pro320Thr) c.919C>A (p.Pro307Thr) c.1222C>A (p.Pro408Thr) c.1069C>A (p.Pro357Thr) | gnomAD v4 |
| 8 | g.143728561A>C | CA463519999 | FAM83H | c.900T>G (p.Ala300=) c.1503T>G (p.Ala501=) c.80T>G c.957T>G (p.Ala319=) c.918T>G (p.Ala306=) c.1221T>G (p.Ala407=) c.1068T>G (p.Ala356=) | |
| 8 | g.143728561A>G | CA463520002 | FAM83H | c.900T>C (p.Ala300=) c.1503T>C (p.Ala501=) c.80T>C c.957T>C (p.Ala319=) c.918T>C (p.Ala306=) c.1221T>C (p.Ala407=) c.1068T>C (p.Ala356=) | |
| 8 | g.143728561A>T | CA463520005 | FAM83H | c.900T>A (p.Ala300=) c.1503T>A (p.Ala501=) c.80T>A c.957T>A (p.Ala319=) c.918T>A (p.Ala306=) c.1221T>A (p.Ala407=) c.1068T>A (p.Ala356=) | |
| 8 | g.143728562G>A | CA372469183 | FAM83H | c.899C>T (p.Ala300Val) c.1502C>T (p.Ala501Val) c.79C>T c.956C>T (p.Ala319Val) c.917C>T (p.Ala306Val) c.1220C>T (p.Ala407Val) c.1067C>T (p.Ala356Val) | gnomAD v4 |
| 8 | g.143728562G>C | CA372469184 | FAM83H | c.899C>G (p.Ala300Gly) c.1502C>G (p.Ala501Gly) c.79C>G c.956C>G (p.Ala319Gly) c.917C>G (p.Ala306Gly) c.1220C>G (p.Ala407Gly) c.1067C>G (p.Ala356Gly) | |
| 8 | g.143728562G>T | CA372469185 | FAM83H | c.899C>A (p.Ala300Asp) c.1502C>A (p.Ala501Asp) c.79C>A c.956C>A (p.Ala319Asp) c.917C>A (p.Ala306Asp) c.1220C>A (p.Ala407Asp) c.1067C>A (p.Ala356Asp) | |
| 8 | g.143728563C>A | CA372469186 | FAM83H | c.898G>T (p.Ala300Ser) c.1501G>T (p.Ala501Ser) c.78G>T c.955G>T (p.Ala319Ser) c.916G>T (p.Ala306Ser) c.1219G>T (p.Ala407Ser) c.1066G>T (p.Ala356Ser) | |
| 8 | g.143728563C>G | CA372469188 | FAM83H | c.898G>C (p.Ala300Pro) c.1501G>C (p.Ala501Pro) c.78G>C c.955G>C (p.Ala319Pro) c.916G>C (p.Ala306Pro) c.1219G>C (p.Ala407Pro) c.1066G>C (p.Ala356Pro) | gnomAD v4 |
| 8 | g.143728563C>T | CA372469190 | FAM83H | c.898G>A (p.Ala300Thr) c.1501G>A (p.Ala501Thr) c.78G>A c.955G>A (p.Ala319Thr) c.916G>A (p.Ala306Thr) c.1219G>A (p.Ala407Thr) c.1066G>A (p.Ala356Thr) | |
| 8 | g.143728564C>A | CA463520007 | FAM83H | c.897G>T (p.Leu299=) c.1500G>T (p.Leu500=) c.77G>T c.954G>T (p.Leu318=) c.915G>T (p.Leu305=) c.1218G>T (p.Leu406=) c.1065G>T (p.Leu355=) | |
| 8 | g.143728564C>G | CA463520010 | FAM83H | c.897G>C (p.Leu299=) c.1500G>C (p.Leu500=) c.77G>C c.954G>C (p.Leu318=) c.915G>C (p.Leu305=) c.1218G>C (p.Leu406=) c.1065G>C (p.Leu355=) | |
| 8 | g.143728564C>T | CA463520008 | FAM83H | c.897G>A (p.Leu299=) c.1500G>A (p.Leu500=) c.77G>A c.954G>A (p.Leu318=) c.915G>A (p.Leu305=) c.1218G>A (p.Leu406=) c.1065G>A (p.Leu355=) | |
| 8 | g.143728565A>C | CA372469191 | FAM83H | c.896T>G (p.Leu299Arg) c.1499T>G (p.Leu500Arg) c.76T>G c.953T>G (p.Leu318Arg) c.914T>G (p.Leu305Arg) c.1217T>G (p.Leu406Arg) c.1064T>G (p.Leu355Arg) | |
| 8 | g.143728565A>G | CA372469194 | FAM83H | c.896T>C (p.Leu299Pro) c.1499T>C (p.Leu500Pro) c.76T>C c.953T>C (p.Leu318Pro) c.914T>C (p.Leu305Pro) c.1217T>C (p.Leu406Pro) c.1064T>C (p.Leu355Pro) | |
| 8 | g.143728565A>T | CA372469192 | FAM83H | c.896T>A (p.Leu299Gln) c.1499T>A (p.Leu500Gln) c.76T>A c.953T>A (p.Leu318Gln) c.914T>A (p.Leu305Gln) c.1217T>A (p.Leu406Gln) c.1064T>A (p.Leu355Gln) | |
| 8 | g.143728566G>A | CA463520017 | FAM83H | c.895C>T (p.Leu299=) c.1498C>T (p.Leu500=) c.75C>T c.952C>T (p.Leu318=) c.913C>T (p.Leu305=) c.1216C>T (p.Leu406=) c.1063C>T (p.Leu355=) | dbSNP |
| 8 | g.143728566G>C | CA372469196 | FAM83H | c.895C>G (p.Leu299Val) c.1498C>G (p.Leu500Val) c.75C>G c.952C>G (p.Leu318Val) c.913C>G (p.Leu305Val) c.1216C>G (p.Leu406Val) c.1063C>G (p.Leu355Val) | |
| 8 | g.143728566G= | CA1825940849 | FAM83H | c.895C= (p.Leu299=) c.1498C= (p.Leu500=) c.75C= c.952C= (p.Leu318=) c.913C= (p.Leu305=) c.1216C= (p.Leu406=) c.1063C= (p.Leu355=) | |
| 8 | g.143728566G>T | CA372469198 | FAM83H | c.895C>A (p.Leu299Met) c.1498C>A (p.Leu500Met) c.75C>A c.952C>A (p.Leu318Met) c.913C>A (p.Leu305Met) c.1216C>A (p.Leu406Met) c.1063C>A (p.Leu355Met) | gnomAD v4 |
| 8 | g.143728567G>A | CA463520018 | FAM83H | c.894C>T (p.Ala298=) c.1497C>T (p.Ala499=) c.74C>T c.951C>T (p.Ala317=) c.912C>T (p.Ala304=) c.1215C>T (p.Ala405=) c.1062C>T (p.Ala354=) | dbSNP gnomAD v4 |
| 8 | g.143728567G>C | CA463520023 | FAM83H | c.894C>G (p.Ala298=) c.1497C>G (p.Ala499=) c.74C>G c.951C>G (p.Ala317=) c.912C>G (p.Ala304=) c.1215C>G (p.Ala405=) c.1062C>G (p.Ala354=) | gnomAD v4 |
| 8 | g.143728567G>T | CA463520020 | FAM83H | c.894C>A (p.Ala298=) c.1497C>A (p.Ala499=) c.74C>A c.951C>A (p.Ala317=) c.912C>A (p.Ala304=) c.1215C>A (p.Ala405=) c.1062C>A (p.Ala354=) | |
| 8 | g.143728568G>A | CA372469202 | FAM83H | c.893C>T (p.Ala298Val) c.1496C>T (p.Ala499Val) c.73C>T c.950C>T (p.Ala317Val) c.911C>T (p.Ala304Val) c.1214C>T (p.Ala405Val) c.1061C>T (p.Ala354Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728568G>C | CA372469203 | FAM83H | c.893C>G (p.Ala298Gly) c.1496C>G (p.Ala499Gly) c.73C>G c.950C>G (p.Ala317Gly) c.911C>G (p.Ala304Gly) c.1214C>G (p.Ala405Gly) c.1061C>G (p.Ala354Gly) | |
| 8 | g.143728568G= | CA1825940850 | FAM83H | c.893C= (p.Ala298=) c.1496C= (p.Ala499=) c.73C= c.950C= (p.Ala317=) c.911C= (p.Ala304=) c.1214C= (p.Ala405=) c.1061C= (p.Ala354=) | |
| 8 | g.143728568G>T | CA372469206 | FAM83H | c.893C>A (p.Ala298Asp) c.1496C>A (p.Ala499Asp) c.73C>A c.950C>A (p.Ala317Asp) c.911C>A (p.Ala304Asp) c.1214C>A (p.Ala405Asp) c.1061C>A (p.Ala354Asp) | |
| 8 | g.143728569C>A | CA372469209 | FAM83H | c.892G>T (p.Ala298Ser) c.1495G>T (p.Ala499Ser) c.72G>T c.949G>T (p.Ala317Ser) c.910G>T (p.Ala304Ser) c.1213G>T (p.Ala405Ser) c.1060G>T (p.Ala354Ser) | |
| 8 | g.143728569C= | CA1825940851 | FAM83H | c.892G= (p.Ala298=) c.1495G= (p.Ala499=) c.72G= c.949G= (p.Ala317=) c.910G= (p.Ala304=) c.1213G= (p.Ala405=) c.1060G= (p.Ala354=) | |
| 8 | g.143728569C>G | CA372469211 | FAM83H | c.892G>C (p.Ala298Pro) c.1495G>C (p.Ala499Pro) c.72G>C c.949G>C (p.Ala317Pro) c.910G>C (p.Ala304Pro) c.1213G>C (p.Ala405Pro) c.1060G>C (p.Ala354Pro) | dbSNP |
| 8 | g.143728569C>T | CA372469212 | FAM83H | c.892G>A (p.Ala298Thr) c.1495G>A (p.Ala499Thr) c.72G>A c.949G>A (p.Ala317Thr) c.910G>A (p.Ala304Thr) c.1213G>A (p.Ala405Thr) c.1060G>A (p.Ala354Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728570A= | CA1825940852 | FAM83H | c.891T= (p.Tyr297=) c.1494T= (p.Tyr498=) c.71T= c.948T= (p.Tyr316=) c.909T= (p.Tyr303=) c.1212T= (p.Tyr404=) c.1059T= (p.Tyr353=) | |
| 8 | g.143728570A>C | CA372469213 | FAM83H | c.891T>G (p.Tyr297Ter) c.1494T>G (p.Tyr498Ter) c.71T>G c.948T>G (p.Tyr316Ter) c.909T>G (p.Tyr303Ter) c.1212T>G (p.Tyr404Ter) c.1059T>G (p.Tyr353Ter) | |
| 8 | g.143728570A>G | CA463520032 | FAM83H | c.891T>C (p.Tyr297=) c.1494T>C (p.Tyr498=) c.71T>C c.948T>C (p.Tyr316=) c.909T>C (p.Tyr303=) c.1212T>C (p.Tyr404=) c.1059T>C (p.Tyr353=) | gnomAD v4 |
| 8 | g.143728570A>T | CA114497 | FAM83H | c.891T>A (p.Tyr297Ter) c.1494T>A (p.Tyr498Ter) c.71T>A c.948T>A (p.Tyr316Ter) c.909T>A (p.Tyr303Ter) c.1212T>A (p.Tyr404Ter) c.1059T>A (p.Tyr353Ter) | ClinVar dbSNP |
| 8 | g.143728571T>A | CA372469218 | FAM83H | c.890A>T (p.Tyr297Phe) c.1493A>T (p.Tyr498Phe) c.70A>T c.947A>T (p.Tyr316Phe) c.908A>T (p.Tyr303Phe) c.1211A>T (p.Tyr404Phe) c.1058A>T (p.Tyr353Phe) | |
| 8 | g.143728571T>C | CA372469220 | FAM83H | c.890A>G (p.Tyr297Cys) c.1493A>G (p.Tyr498Cys) c.70A>G c.947A>G (p.Tyr316Cys) c.908A>G (p.Tyr303Cys) c.1211A>G (p.Tyr404Cys) c.1058A>G (p.Tyr353Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728571T>G | CA372469216 | FAM83H | c.890A>C (p.Tyr297Ser) c.1493A>C (p.Tyr498Ser) c.70A>C c.947A>C (p.Tyr316Ser) c.908A>C (p.Tyr303Ser) c.1211A>C (p.Tyr404Ser) c.1058A>C (p.Tyr353Ser) | |
| 8 | g.143728571T= | CA1825940853 | FAM83H | c.890A= (p.Tyr297=) c.1493A= (p.Tyr498=) c.70A= c.947A= (p.Tyr316=) c.908A= (p.Tyr303=) c.1211A= (p.Tyr404=) c.1058A= (p.Tyr353=) | |
| 8 | g.143728572A>C | CA372469221 | FAM83H | c.889T>G (p.Tyr297Asp) c.1492T>G (p.Tyr498Asp) c.69T>G c.946T>G (p.Tyr316Asp) c.907T>G (p.Tyr303Asp) c.1210T>G (p.Tyr404Asp) c.1057T>G (p.Tyr353Asp) | |
| 8 | g.143728572A>G | CA372469223 | FAM83H | c.889T>C (p.Tyr297His) c.1492T>C (p.Tyr498His) c.69T>C c.946T>C (p.Tyr316His) c.907T>C (p.Tyr303His) c.1210T>C (p.Tyr404His) c.1057T>C (p.Tyr353His) | |
| 8 | g.143728572A>T | CA372469224 | FAM83H | c.889T>A (p.Tyr297Asn) c.1492T>A (p.Tyr498Asn) c.69T>A c.946T>A (p.Tyr316Asn) c.907T>A (p.Tyr303Asn) c.1210T>A (p.Tyr404Asn) c.1057T>A (p.Tyr353Asn) | |
| 8 | g.143728573G>A | CA463519879 | FAM83H | c.888C>T (p.Ala296=) c.1491C>T (p.Ala497=) c.68C>T c.945C>T (p.Ala315=) c.906C>T (p.Ala302=) c.1209C>T (p.Ala403=) c.1056C>T (p.Ala352=) | gnomAD v4 |
| 8 | g.143728573G>C | CA463519884 | FAM83H | c.888C>G (p.Ala296=) c.1491C>G (p.Ala497=) c.68C>G c.945C>G (p.Ala315=) c.906C>G (p.Ala302=) c.1209C>G (p.Ala403=) c.1056C>G (p.Ala352=) | |
| 8 | g.143728573G>T | CA463519883 | FAM83H | c.888C>A (p.Ala296=) c.1491C>A (p.Ala497=) c.68C>A c.945C>A (p.Ala315=) c.906C>A (p.Ala302=) c.1209C>A (p.Ala403=) c.1056C>A (p.Ala352=) | |
| 8 | g.143728574G>A | CA372469226 | FAM83H | c.887C>T (p.Ala296Val) c.1490C>T (p.Ala497Val) c.67C>T c.944C>T (p.Ala315Val) c.905C>T (p.Ala302Val) c.1208C>T (p.Ala403Val) c.1055C>T (p.Ala352Val) | |
| 8 | g.143728574G>C | CA372469228 | FAM83H | c.887C>G (p.Ala296Gly) c.1490C>G (p.Ala497Gly) c.67C>G c.944C>G (p.Ala315Gly) c.905C>G (p.Ala302Gly) c.1208C>G (p.Ala403Gly) c.1055C>G (p.Ala352Gly) | |
| 8 | g.143728574G= | CA1825940854 | FAM83H | c.887C= (p.Ala296=) c.1490C= (p.Ala497=) c.67C= c.944C= (p.Ala315=) c.905C= (p.Ala302=) c.1208C= (p.Ala403=) c.1055C= (p.Ala352=) | |
| 8 | g.143728574G>T | CA372469229 | FAM83H | c.887C>A (p.Ala296Asp) c.1490C>A (p.Ala497Asp) c.67C>A c.944C>A (p.Ala315Asp) c.905C>A (p.Ala302Asp) c.1208C>A (p.Ala403Asp) c.1055C>A (p.Ala352Asp) | dbSNP gnomAD v4 |
| 8 | g.143728575C>A | CA372469231 | FAM83H | c.886G>T (p.Ala296Ser) c.1489G>T (p.Ala497Ser) c.66G>T c.943G>T (p.Ala315Ser) c.904G>T (p.Ala302Ser) c.1207G>T (p.Ala403Ser) c.1054G>T (p.Ala352Ser) | gnomAD v4 |
| 8 | g.143728575C= | CA1825940855 | FAM83H | c.886G= (p.Ala296=) c.1489G= (p.Ala497=) c.66G= c.943G= (p.Ala315=) c.904G= (p.Ala302=) c.1207G= (p.Ala403=) c.1054G= (p.Ala352=) | |
| 8 | g.143728575C>G | CA372469233 | FAM83H | c.886G>C (p.Ala296Pro) c.1489G>C (p.Ala497Pro) c.66G>C c.943G>C (p.Ala315Pro) c.904G>C (p.Ala302Pro) c.1207G>C (p.Ala403Pro) c.1054G>C (p.Ala352Pro) | |
| 8 | g.143728575C>T | CA4917562 | FAM83H | c.886G>A (p.Ala296Thr) c.1489G>A (p.Ala497Thr) c.66G>A c.943G>A (p.Ala315Thr) c.904G>A (p.Ala302Thr) c.1207G>A (p.Ala403Thr) c.1054G>A (p.Ala352Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728576G>A | CA4917563 | FAM83H | c.885C>T (p.Asp295=) c.1488C>T (p.Asp496=) c.65C>T c.942C>T (p.Asp314=) c.903C>T (p.Asp301=) c.1206C>T (p.Asp402=) c.1053C>T (p.Asp351=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728576G>C | CA372469236 | FAM83H | c.885C>G (p.Asp295Glu) c.1488C>G (p.Asp496Glu) c.65C>G c.942C>G (p.Asp314Glu) c.903C>G (p.Asp301Glu) c.1206C>G (p.Asp402Glu) c.1053C>G (p.Asp351Glu) | dbSNP |
| 8 | g.143728576G= | CA1825940856 | FAM83H | c.885C= (p.Asp295=) c.1488C= (p.Asp496=) c.65C= c.942C= (p.Asp314=) c.903C= (p.Asp301=) c.1206C= (p.Asp402=) c.1053C= (p.Asp351=) | |
| 8 | g.143728576G>T | CA372469238 | FAM83H | c.885C>A (p.Asp295Glu) c.1488C>A (p.Asp496Glu) c.65C>A c.942C>A (p.Asp314Glu) c.903C>A (p.Asp301Glu) c.1206C>A (p.Asp402Glu) c.1053C>A (p.Asp351Glu) | |
| 8 | g.143728577T>A | CA372469242 | FAM83H | c.884A>T (p.Asp295Val) c.1487A>T (p.Asp496Val) c.64A>T c.941A>T (p.Asp314Val) c.902A>T (p.Asp301Val) c.1205A>T (p.Asp402Val) c.1052A>T (p.Asp351Val) | |
| 8 | g.143728577T>C | CA372469244 | FAM83H | c.884A>G (p.Asp295Gly) c.1487A>G (p.Asp496Gly) c.64A>G c.941A>G (p.Asp314Gly) c.902A>G (p.Asp301Gly) c.1205A>G (p.Asp402Gly) c.1052A>G (p.Asp351Gly) | |
| 8 | g.143728577T>G | CA372469240 | FAM83H | c.884A>C (p.Asp295Ala) c.1487A>C (p.Asp496Ala) c.64A>C c.941A>C (p.Asp314Ala) c.902A>C (p.Asp301Ala) c.1205A>C (p.Asp402Ala) c.1052A>C (p.Asp351Ala) | |
| 8 | g.143728578C>A | CA372469245 | FAM83H | c.883G>T (p.Asp295Tyr) c.1486G>T (p.Asp496Tyr) c.63G>T c.940G>T (p.Asp314Tyr) c.901G>T (p.Asp301Tyr) c.1204G>T (p.Asp402Tyr) c.1051G>T (p.Asp351Tyr) | |
| 8 | g.143728578C>G | CA372469247 | FAM83H | c.883G>C (p.Asp295His) c.1486G>C (p.Asp496His) c.63G>C c.940G>C (p.Asp314His) c.901G>C (p.Asp301His) c.1204G>C (p.Asp402His) c.1051G>C (p.Asp351His) | |
| 8 | g.143728578C>T | CA372469249 | FAM83H | c.883G>A (p.Asp295Asn) c.1486G>A (p.Asp496Asn) c.63G>A c.940G>A (p.Asp314Asn) c.901G>A (p.Asp301Asn) c.1204G>A (p.Asp402Asn) c.1051G>A (p.Asp351Asn) | |
| 8 | g.143728579C>A | CA372469251 | FAM83H | c.882G>T (p.Met294Ile) c.1485G>T (p.Met495Ile) c.62G>T c.939G>T (p.Met313Ile) c.900G>T (p.Met300Ile) c.1203G>T (p.Met401Ile) c.1050G>T (p.Met350Ile) | |
| 8 | g.143728579C>G | CA372469253 | FAM83H | c.882G>C (p.Met294Ile) c.1485G>C (p.Met495Ile) c.62G>C c.939G>C (p.Met313Ile) c.900G>C (p.Met300Ile) c.1203G>C (p.Met401Ile) c.1050G>C (p.Met350Ile) | |
| 8 | g.143728579C>T | CA372469257 | FAM83H | c.882G>A (p.Met294Ile) c.1485G>A (p.Met495Ile) c.62G>A c.939G>A (p.Met313Ile) c.900G>A (p.Met300Ile) c.1203G>A (p.Met401Ile) c.1050G>A (p.Met350Ile) | |
| 8 | g.143728580A= | CA1825940857 | FAM83H | c.881T= (p.Met294=) c.1484T= (p.Met495=) c.61T= c.938T= (p.Met313=) c.899T= (p.Met300=) c.1202T= (p.Met401=) c.1049T= (p.Met350=) | |
| 8 | g.143728580A>C | CA372469262 | FAM83H | c.881T>G (p.Met294Arg) c.1484T>G (p.Met495Arg) c.61T>G c.938T>G (p.Met313Arg) c.899T>G (p.Met300Arg) c.1202T>G (p.Met401Arg) c.1049T>G (p.Met350Arg) | |
| 8 | g.143728580A>G | CA372469259 | FAM83H | c.881T>C (p.Met294Thr) c.1484T>C (p.Met495Thr) c.61T>C c.938T>C (p.Met313Thr) c.899T>C (p.Met300Thr) c.1202T>C (p.Met401Thr) c.1049T>C (p.Met350Thr) | |
| 8 | g.143728580A>T | CA372469260 | FAM83H | c.881T>A (p.Met294Lys) c.1484T>A (p.Met495Lys) c.61T>A c.938T>A (p.Met313Lys) c.899T>A (p.Met300Lys) c.1202T>A (p.Met401Lys) c.1049T>A (p.Met350Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728581T>A | CA372469263 | FAM83H | c.880A>T (p.Met294Leu) c.1483A>T (p.Met495Leu) c.60A>T c.937A>T (p.Met313Leu) c.898A>T (p.Met300Leu) c.1201A>T (p.Met401Leu) c.1048A>T (p.Met350Leu) | |
| 8 | g.143728581T>C | CA372469265 | FAM83H | c.880A>G (p.Met294Val) c.1483A>G (p.Met495Val) c.60A>G c.937A>G (p.Met313Val) c.898A>G (p.Met300Val) c.1201A>G (p.Met401Val) c.1048A>G (p.Met350Val) | gnomAD v4 |
| 8 | g.143728581T>G | CA372469267 | FAM83H | c.880A>C (p.Met294Leu) c.1483A>C (p.Met495Leu) c.60A>C c.937A>C (p.Met313Leu) c.898A>C (p.Met300Leu) c.1201A>C (p.Met401Leu) c.1048A>C (p.Met350Leu) | |
| 8 | g.143728582G>A | CA463519907 | FAM83H | c.879C>T (p.Arg293=) c.1482C>T (p.Arg494=) c.59C>T c.936C>T (p.Arg312=) c.897C>T (p.Arg299=) c.1200C>T (p.Arg400=) c.1047C>T (p.Arg349=) | gnomAD v4 |
| 8 | g.143728582G>C | CA463519908 | FAM83H | c.879C>G (p.Arg293=) c.1482C>G (p.Arg494=) c.59C>G c.936C>G (p.Arg312=) c.897C>G (p.Arg299=) c.1200C>G (p.Arg400=) c.1047C>G (p.Arg349=) | |
| 8 | g.143728582G>T | CA463519909 | FAM83H | c.879C>A (p.Arg293=) c.1482C>A (p.Arg494=) c.59C>A c.936C>A (p.Arg312=) c.897C>A (p.Arg299=) c.1200C>A (p.Arg400=) c.1047C>A (p.Arg349=) | gnomAD v4 |
| 8 | g.143728583C>A | CA4917565 | FAM83H | c.878G>T (p.Arg293Leu) c.1481G>T (p.Arg494Leu) c.58G>T c.935G>T (p.Arg312Leu) c.896G>T (p.Arg299Leu) c.1199G>T (p.Arg400Leu) c.1046G>T (p.Arg349Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728583C= | CA1825940858 | FAM83H | c.878G= (p.Arg293=) c.1481G= (p.Arg494=) c.58G= c.935G= (p.Arg312=) c.896G= (p.Arg299=) c.1199G= (p.Arg400=) c.1046G= (p.Arg349=) | |
| 8 | g.143728583C>G | CA372469270 | FAM83H | c.878G>C (p.Arg293Pro) c.1481G>C (p.Arg494Pro) c.58G>C c.935G>C (p.Arg312Pro) c.896G>C (p.Arg299Pro) c.1199G>C (p.Arg400Pro) c.1046G>C (p.Arg349Pro) | |
| 8 | g.143728583C>T | CA4917564 | FAM83H | c.878G>A (p.Arg293His) c.1481G>A (p.Arg494His) c.58G>A c.935G>A (p.Arg312His) c.896G>A (p.Arg299His) c.1199G>A (p.Arg400His) c.1046G>A (p.Arg349His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728584G>A | CA4917566 | FAM83H | c.877C>T (p.Arg293Cys) c.1480C>T (p.Arg494Cys) c.57C>T c.934C>T (p.Arg312Cys) c.895C>T (p.Arg299Cys) c.1198C>T (p.Arg400Cys) c.1045C>T (p.Arg349Cys) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.143728584G>C | CA4917567 | FAM83H | c.877C>G (p.Arg293Gly) c.1480C>G (p.Arg494Gly) c.57C>G c.934C>G (p.Arg312Gly) c.895C>G (p.Arg299Gly) c.1198C>G (p.Arg400Gly) c.1045C>G (p.Arg349Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728584G= | CA1825940859 | FAM83H | c.877C= (p.Arg293=) c.1480C= (p.Arg494=) c.57C= c.934C= (p.Arg312=) c.895C= (p.Arg299=) c.1198C= (p.Arg400=) c.1045C= (p.Arg349=) | |
| 8 | g.143728584G>T | CA372469273 | FAM83H | c.877C>A (p.Arg293Ser) c.1480C>A (p.Arg494Ser) c.57C>A c.934C>A (p.Arg312Ser) c.895C>A (p.Arg299Ser) c.1198C>A (p.Arg400Ser) c.1045C>A (p.Arg349Ser) | |
| 8 | g.143728586dup | CA2688981309 | FAM83H | c.877dup (p.Arg293ProfsTer?) c.1480dup (p.Arg494ProfsTer?) c.57dup c.934dup (p.Arg312ProfsTer?) c.895dup (p.Arg299ProfsTer?) c.1198dup (p.Arg400ProfsTer?) c.1045dup (p.Arg349ProfsTer?) | gnomAD v4 |
| 8 | g.143728589_143728594dup | CA2782562265 | FAM83H | c.872_877dup (p.Ala292_Arg293insLeuAla) c.1475_1480dup (p.Ala493_Arg494insLeuAla) c.52_57dup c.929_934dup (p.Ala311_Arg312insLeuAla) c.890_895dup (p.Ala298_Arg299insLeuAla) c.1193_1198dup (p.Ala399_Arg400insLeuAla) c.1040_1045dup (p.Ala348_Arg349insLeuAla) | |
| 8 | g.143728585G>A | CA463519916 | FAM83H | c.876C>T (p.Ala292=) c.1479C>T (p.Ala493=) c.56C>T c.933C>T (p.Ala311=) c.894C>T (p.Ala298=) c.1197C>T (p.Ala399=) c.1044C>T (p.Ala348=) | |
| 8 | g.143728585G>C | CA463519919 | FAM83H | c.876C>G (p.Ala292=) c.1479C>G (p.Ala493=) c.56C>G c.933C>G (p.Ala311=) c.894C>G (p.Ala298=) c.1197C>G (p.Ala399=) c.1044C>G (p.Ala348=) | |
| 8 | g.143728585G>T | CA463519920 | FAM83H | c.876C>A (p.Ala292=) c.1479C>A (p.Ala493=) c.56C>A c.933C>A (p.Ala311=) c.894C>A (p.Ala298=) c.1197C>A (p.Ala399=) c.1044C>A (p.Ala348=) | |
| 8 | g.143728586G>A | CA372469275 | FAM83H | c.875C>T (p.Ala292Val) c.1478C>T (p.Ala493Val) c.55C>T c.932C>T (p.Ala311Val) c.893C>T (p.Ala298Val) c.1196C>T (p.Ala399Val) c.1043C>T (p.Ala348Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728586G>C | CA372469278 | FAM83H | c.875C>G (p.Ala292Gly) c.1478C>G (p.Ala493Gly) c.55C>G c.932C>G (p.Ala311Gly) c.893C>G (p.Ala298Gly) c.1196C>G (p.Ala399Gly) c.1043C>G (p.Ala348Gly) | |
| 8 | g.143728586G= | CA1825940860 | FAM83H | c.875C= (p.Ala292=) c.1478C= (p.Ala493=) c.55C= c.932C= (p.Ala311=) c.893C= (p.Ala298=) c.1196C= (p.Ala399=) c.1043C= (p.Ala348=) | |
| 8 | g.143728586G>T | CA372469276 | FAM83H | c.875C>A (p.Ala292Asp) c.1478C>A (p.Ala493Asp) c.55C>A c.932C>A (p.Ala311Asp) c.893C>A (p.Ala298Asp) c.1196C>A (p.Ala399Asp) c.1043C>A (p.Ala348Asp) | |
| 8 | g.143728587C>A | CA372469280 | FAM83H | c.874G>T (p.Ala292Ser) c.1477G>T (p.Ala493Ser) c.54G>T c.931G>T (p.Ala311Ser) c.892G>T (p.Ala298Ser) c.1195G>T (p.Ala399Ser) c.1042G>T (p.Ala348Ser) | gnomAD v4 |
| 8 | g.143728587C>G | CA372469283 | FAM83H | c.874G>C (p.Ala292Pro) c.1477G>C (p.Ala493Pro) c.54G>C c.931G>C (p.Ala311Pro) c.892G>C (p.Ala298Pro) c.1195G>C (p.Ala399Pro) c.1042G>C (p.Ala348Pro) | gnomAD v4 |
| 8 | g.143728587C>T | CA372469282 | FAM83H | c.874G>A (p.Ala292Thr) c.1477G>A (p.Ala493Thr) c.54G>A c.931G>A (p.Ala311Thr) c.892G>A (p.Ala298Thr) c.1195G>A (p.Ala399Thr) c.1042G>A (p.Ala348Thr) | |
| 8 | g.143728588C>A | CA463519923 | FAM83H | c.873G>T (p.Leu291=) c.1476G>T (p.Leu492=) c.53G>T c.930G>T (p.Leu310=) c.891G>T (p.Leu297=) c.1194G>T (p.Leu398=) c.1041G>T (p.Leu347=) | |
| 8 | g.143728588C>G | CA463519924 | FAM83H | c.873G>C (p.Leu291=) c.1476G>C (p.Leu492=) c.53G>C c.930G>C (p.Leu310=) c.891G>C (p.Leu297=) c.1194G>C (p.Leu398=) c.1041G>C (p.Leu347=) | |
| 8 | g.143728588C>T | CA463519925 | FAM83H | c.873G>A (p.Leu291=) c.1476G>A (p.Leu492=) c.53G>A c.930G>A (p.Leu310=) c.891G>A (p.Leu297=) c.1194G>A (p.Leu398=) c.1041G>A (p.Leu347=) | |
| 8 | g.143728589A= | CA1825940861 | FAM83H | c.872T= (p.Leu291=) c.1475T= (p.Leu492=) c.52T= c.929T= (p.Leu310=) c.890T= (p.Leu297=) c.1193T= (p.Leu398=) c.1040T= (p.Leu347=) | |
| 8 | g.143728589A>C | CA372469284 | FAM83H | c.872T>G (p.Leu291Arg) c.1475T>G (p.Leu492Arg) c.52T>G c.929T>G (p.Leu310Arg) c.890T>G (p.Leu297Arg) c.1193T>G (p.Leu398Arg) c.1040T>G (p.Leu347Arg) | dbSNP gnomAD v4 |
| 8 | g.143728589A>G | CA372469287 | FAM83H | c.872T>C (p.Leu291Pro) c.1475T>C (p.Leu492Pro) c.52T>C c.929T>C (p.Leu310Pro) c.890T>C (p.Leu297Pro) c.1193T>C (p.Leu398Pro) c.1040T>C (p.Leu347Pro) | gnomAD v4 |
| 8 | g.143728589A>T | CA372469286 | FAM83H | c.872T>A (p.Leu291Gln) c.1475T>A (p.Leu492Gln) c.52T>A c.929T>A (p.Leu310Gln) c.890T>A (p.Leu297Gln) c.1193T>A (p.Leu398Gln) c.1040T>A (p.Leu347Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728590G>A | CA4917568 | FAM83H | c.871C>T (p.Leu291=) c.1474C>T (p.Leu492=) c.51C>T c.928C>T (p.Leu310=) c.889C>T (p.Leu297=) c.1192C>T (p.Leu398=) c.1039C>T (p.Leu347=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728590G>C | CA372469291 | FAM83H | c.871C>G (p.Leu291Val) c.1474C>G (p.Leu492Val) c.51C>G c.928C>G (p.Leu310Val) c.889C>G (p.Leu297Val) c.1192C>G (p.Leu398Val) c.1039C>G (p.Leu347Val) | |
| 8 | g.143728590G= | CA1825940862 | FAM83H | c.871C= (p.Leu291=) c.1474C= (p.Leu492=) c.51C= c.928C= (p.Leu310=) c.889C= (p.Leu297=) c.1192C= (p.Leu398=) c.1039C= (p.Leu347=) | |
| 8 | g.143728590G>T | CA372469293 | FAM83H | c.871C>A (p.Leu291Met) c.1474C>A (p.Leu492Met) c.51C>A c.928C>A (p.Leu310Met) c.889C>A (p.Leu297Met) c.1192C>A (p.Leu398Met) c.1039C>A (p.Leu347Met) | |
| 8 | g.143728592del | CA2688981315 | FAM83H | c.871del (p.Leu291TrpfsTer?) c.1474del (p.Leu492TrpfsTer?) c.51del c.928del (p.Leu310TrpfsTer?) c.889del (p.Leu297TrpfsTer?) c.1192del (p.Leu398TrpfsTer?) c.1039del (p.Leu347TrpfsTer?) | gnomAD v4 |
| 8 | g.143728591G>A | CA463519932 | FAM83H | c.870C>T (p.Ala290=) c.1473C>T (p.Ala491=) c.50C>T c.927C>T (p.Ala309=) c.888C>T (p.Ala296=) c.1191C>T (p.Ala397=) c.1038C>T (p.Ala346=) | gnomAD v4 |
| 8 | g.143728591G>C | CA463519933 | FAM83H | c.870C>G (p.Ala290=) c.1473C>G (p.Ala491=) c.50C>G c.927C>G (p.Ala309=) c.888C>G (p.Ala296=) c.1191C>G (p.Ala397=) c.1038C>G (p.Ala346=) | |
| 8 | g.143728591G>T | CA463519934 | FAM83H | c.870C>A (p.Ala290=) c.1473C>A (p.Ala491=) c.50C>A c.927C>A (p.Ala309=) c.888C>A (p.Ala296=) c.1191C>A (p.Ala397=) c.1038C>A (p.Ala346=) | |
| 8 | g.143728592G>A | CA4917569 | FAM83H | c.869C>T (p.Ala290Val) c.1472C>T (p.Ala491Val) c.49C>T c.926C>T (p.Ala309Val) c.887C>T (p.Ala296Val) c.1190C>T (p.Ala397Val) c.1037C>T (p.Ala346Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.143728592G>C | CA372469297 | FAM83H | c.869C>G (p.Ala290Gly) c.1472C>G (p.Ala491Gly) c.49C>G c.926C>G (p.Ala309Gly) c.887C>G (p.Ala296Gly) c.1190C>G (p.Ala397Gly) c.1037C>G (p.Ala346Gly) | |
| 8 | g.143728592G= | CA1825940863 | FAM83H | c.869C= (p.Ala290=) c.1472C= (p.Ala491=) c.49C= c.926C= (p.Ala309=) c.887C= (p.Ala296=) c.1190C= (p.Ala397=) c.1037C= (p.Ala346=) | |
| 8 | g.143728592G>T | CA372469298 | FAM83H | c.869C>A (p.Ala290Asp) c.1472C>A (p.Ala491Asp) c.49C>A c.926C>A (p.Ala309Asp) c.887C>A (p.Ala296Asp) c.1190C>A (p.Ala397Asp) c.1037C>A (p.Ala346Asp) | |
| 8 | g.143728593C>A | CA372469300 | FAM83H | c.868G>T (p.Ala290Ser) c.1471G>T (p.Ala491Ser) c.48G>T c.925G>T (p.Ala309Ser) c.886G>T (p.Ala296Ser) c.1189G>T (p.Ala397Ser) c.1036G>T (p.Ala346Ser) | |
| 8 | g.143728593C= | CA1825940864 | FAM83H | c.868G= (p.Ala290=) c.1471G= (p.Ala491=) c.48G= c.925G= (p.Ala309=) c.886G= (p.Ala296=) c.1189G= (p.Ala397=) c.1036G= (p.Ala346=) | |
| 8 | g.143728593C>G | CA372469301 | FAM83H | c.868G>C (p.Ala290Pro) c.1471G>C (p.Ala491Pro) c.48G>C c.925G>C (p.Ala309Pro) c.886G>C (p.Ala296Pro) c.1189G>C (p.Ala397Pro) c.1036G>C (p.Ala346Pro) | |
| 8 | g.143728593C>T | CA187605625 | FAM83H | c.868G>A (p.Ala290Thr) c.1471G>A (p.Ala491Thr) c.48G>A c.925G>A (p.Ala309Thr) c.886G>A (p.Ala296Thr) c.1189G>A (p.Ala397Thr) c.1036G>A (p.Ala346Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728594C>A | CA463519947 | FAM83H | c.867G>T (p.Ala289=) c.1470G>T (p.Ala490=) c.47G>T c.924G>T (p.Ala308=) c.885G>T (p.Ala295=) c.1188G>T (p.Ala396=) c.1035G>T (p.Ala345=) | |
| 8 | g.143728594C>G | CA463519948 | FAM83H | c.867G>C (p.Ala289=) c.1470G>C (p.Ala490=) c.47G>C c.924G>C (p.Ala308=) c.885G>C (p.Ala295=) c.1188G>C (p.Ala396=) c.1035G>C (p.Ala345=) | |
| 8 | g.143728594C>T | CA463519951 | FAM83H | c.867G>A (p.Ala289=) c.1470G>A (p.Ala490=) c.47G>A c.924G>A (p.Ala308=) c.885G>A (p.Ala295=) c.1188G>A (p.Ala396=) c.1035G>A (p.Ala345=) | |
| 8 | g.143728595G>A | CA187605633 | FAM83H | c.866C>T (p.Ala289Val) c.1469C>T (p.Ala490Val) c.46C>T c.923C>T (p.Ala308Val) c.884C>T (p.Ala295Val) c.1187C>T (p.Ala396Val) c.1034C>T (p.Ala345Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728595G>C | CA372469305 | FAM83H | c.866C>G (p.Ala289Gly) c.1469C>G (p.Ala490Gly) c.46C>G c.923C>G (p.Ala308Gly) c.884C>G (p.Ala295Gly) c.1187C>G (p.Ala396Gly) c.1034C>G (p.Ala345Gly) | |
| 8 | g.143728595G= | CA1825940865 | FAM83H | c.866C= (p.Ala289=) c.1469C= (p.Ala490=) c.46C= c.923C= (p.Ala308=) c.884C= (p.Ala295=) c.1187C= (p.Ala396=) c.1034C= (p.Ala345=) | |
| 8 | g.143728595G>T | CA372469306 | FAM83H | c.866C>A (p.Ala289Glu) c.1469C>A (p.Ala490Glu) c.46C>A c.923C>A (p.Ala308Glu) c.884C>A (p.Ala295Glu) c.1187C>A (p.Ala396Glu) c.1034C>A (p.Ala345Glu) | gnomAD v4 |
| 8 | g.143728596C>A | CA372469309 | FAM83H | c.865G>T (p.Ala289Ser) c.1468G>T (p.Ala490Ser) c.45G>T c.922G>T (p.Ala308Ser) c.883G>T (p.Ala295Ser) c.1186G>T (p.Ala396Ser) c.1033G>T (p.Ala345Ser) | |
| 8 | g.143728596C= | CA1825940866 | FAM83H | c.865G= (p.Ala289=) c.1468G= (p.Ala490=) c.45G= c.922G= (p.Ala308=) c.883G= (p.Ala295=) c.1186G= (p.Ala396=) c.1033G= (p.Ala345=) | |
| 8 | g.143728596C>G | CA372469313 | FAM83H | c.865G>C (p.Ala289Pro) c.1468G>C (p.Ala490Pro) c.45G>C c.922G>C (p.Ala308Pro) c.883G>C (p.Ala295Pro) c.1186G>C (p.Ala396Pro) c.1033G>C (p.Ala345Pro) | |
| 8 | g.143728596C>T | CA372469311 | FAM83H | c.865G>A (p.Ala289Thr) c.1468G>A (p.Ala490Thr) c.45G>A c.922G>A (p.Ala308Thr) c.883G>A (p.Ala295Thr) c.1186G>A (p.Ala396Thr) c.1033G>A (p.Ala345Thr) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.143728597G>A | CA4917571 | FAM83H | c.864C>T (p.Ala288=) c.1467C>T (p.Ala489=) c.44C>T c.921C>T (p.Ala307=) c.882C>T (p.Ala294=) c.1185C>T (p.Ala395=) c.1032C>T (p.Ala344=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728597G>C | CA4917570 | FAM83H | c.864C>G (p.Ala288=) c.1467C>G (p.Ala489=) c.44C>G c.921C>G (p.Ala307=) c.882C>G (p.Ala294=) c.1185C>G (p.Ala395=) c.1032C>G (p.Ala344=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.143728597G= | CA1825940867 | FAM83H | c.864C= (p.Ala288=) c.1467C= (p.Ala489=) c.44C= c.921C= (p.Ala307=) c.882C= (p.Ala294=) c.1185C= (p.Ala395=) c.1032C= (p.Ala344=) | |
| 8 | g.143728597G>T | CA463519966 | FAM83H | c.864C>A (p.Ala288=) c.1467C>A (p.Ala489=) c.44C>A c.921C>A (p.Ala307=) c.882C>A (p.Ala294=) c.1185C>A (p.Ala395=) c.1032C>A (p.Ala344=) | gnomAD v4 |
| 8 | g.143728598G>A | CA372469315 | FAM83H | c.863C>T (p.Ala288Val) c.1466C>T (p.Ala489Val) c.43C>T c.920C>T (p.Ala307Val) c.881C>T (p.Ala294Val) c.1184C>T (p.Ala395Val) c.1031C>T (p.Ala344Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728598G>C | CA372469316 | FAM83H | c.863C>G (p.Ala288Gly) c.1466C>G (p.Ala489Gly) c.43C>G c.920C>G (p.Ala307Gly) c.881C>G (p.Ala294Gly) c.1184C>G (p.Ala395Gly) c.1031C>G (p.Ala344Gly) | |
| 8 | g.143728598G= | CA1825940868 | FAM83H | c.863C= (p.Ala288=) c.1466C= (p.Ala489=) c.43C= c.920C= (p.Ala307=) c.881C= (p.Ala294=) c.1184C= (p.Ala395=) c.1031C= (p.Ala344=) | |
| 8 | g.143728598G>T | CA372469317 | FAM83H | c.863C>A (p.Ala288Asp) c.1466C>A (p.Ala489Asp) c.43C>A c.920C>A (p.Ala307Asp) c.881C>A (p.Ala294Asp) c.1184C>A (p.Ala395Asp) c.1031C>A (p.Ala344Asp) | |
| 8 | g.143728599C>A | CA372469319 | FAM83H | c.862G>T (p.Ala288Ser) c.1465G>T (p.Ala489Ser) c.42G>T c.919G>T (p.Ala307Ser) c.880G>T (p.Ala294Ser) c.1183G>T (p.Ala395Ser) c.1030G>T (p.Ala344Ser) | |
| 8 | g.143728599C= | CA1825940869 | FAM83H | c.862G= (p.Ala288=) c.1465G= (p.Ala489=) c.42G= c.919G= (p.Ala307=) c.880G= (p.Ala294=) c.1183G= (p.Ala395=) c.1030G= (p.Ala344=) | |
| 8 | g.143728599C>G | CA372469321 | FAM83H | c.862G>C (p.Ala288Pro) c.1465G>C (p.Ala489Pro) c.42G>C c.919G>C (p.Ala307Pro) c.880G>C (p.Ala294Pro) c.1183G>C (p.Ala395Pro) c.1030G>C (p.Ala344Pro) | |
| 8 | g.143728599C>T | CA372469322 | FAM83H | c.862G>A (p.Ala288Thr) c.1465G>A (p.Ala489Thr) c.42G>A c.919G>A (p.Ala307Thr) c.880G>A (p.Ala294Thr) c.1183G>A (p.Ala395Thr) c.1030G>A (p.Ala344Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728600C>A | CA463519973 | FAM83H | c.861G>T (p.Ser287=) c.1464G>T (p.Ser488=) c.41G>T c.918G>T (p.Ser306=) c.879G>T (p.Ser293=) c.1182G>T (p.Ser394=) c.1029G>T (p.Ser343=) | gnomAD v4 |
| 8 | g.143728600C= | CA1825940870 | FAM83H | c.861G= (p.Ser287=) c.1464G= (p.Ser488=) c.41G= c.918G= (p.Ser306=) c.879G= (p.Ser293=) c.1182G= (p.Ser394=) c.1029G= (p.Ser343=) | |
| 8 | g.143728600C>G | CA463519972 | FAM83H | c.861G>C (p.Ser287=) c.1464G>C (p.Ser488=) c.41G>C c.918G>C (p.Ser306=) c.879G>C (p.Ser293=) c.1182G>C (p.Ser394=) c.1029G>C (p.Ser343=) | gnomAD v4 |
| 8 | g.143728600C>T | CA4917572 | FAM83H | c.861G>A (p.Ser287=) c.1464G>A (p.Ser488=) c.41G>A c.918G>A (p.Ser306=) c.879G>A (p.Ser293=) c.1182G>A (p.Ser394=) c.1029G>A (p.Ser343=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728600_143728601insTCCA | CA2688981331 | FAM83H | c.860_861insTGGA (p.Ala288GlyfsTer?) c.1463_1464insTGGA (p.Ala489GlyfsTer?) c.40_41insTGGA c.917_918insTGGA (p.Ala307GlyfsTer?) c.878_879insTGGA (p.Ala294GlyfsTer?) c.1181_1182insTGGA (p.Ala395GlyfsTer?) c.1028_1029insTGGA (p.Ala344GlyfsTer?) | gnomAD v4 |
| 8 | g.143728600_143728601insTCCAGCACTTCGCT | CA2688981333 | FAM83H | c.860_861insAGCGAAGTGCTGGA (p.Ala289LysfsTer?) c.1463_1464insAGCGAAGTGCTGGA (p.Ala490LysfsTer?) c.40_41insAGCGAAGTGCTGGA c.917_918insAGCGAAGTGCTGGA (p.Ala308LysfsTer?) c.878_879insAGCGAAGTGCTGGA (p.Ala295LysfsTer?) c.1181_1182insAGCGAAGTGCTGGA (p.Ala396LysfsTer?) c.1028_1029insAGCGAAGTGCTGGA (p.Ala345LysfsTer?) | gnomAD v4 |
| 8 | g.143728600_143728601insTCCAGCACTTCGCTGAGCAGGTCCACATCA | CA2688981335 | FAM83H | c.860_861insTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ser287_Ala288insAspValAspLeuLeuSerGluValLeuGlu) c.1463_1464insTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ser488_Ala489insAspValAspLeuLeuSerGluValLeuGlu) c.40_41insTGATGTGGACCTGCTCAGCGAAGTGCTGGA c.917_918insTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ser306_Ala307insAspValAspLeuLeuSerGluValLeuGlu) c.878_879insTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ser293_Ala294insAspValAspLeuLeuSerGluValLeuGlu) c.1181_1182insTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ser394_Ala395insAspValAspLeuLeuSerGluValLeuGlu) c.1028_1029insTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ser343_Ala344insAspValAspLeuLeuSerGluValLeuGlu) | gnomAD v4 |
| 8 | g.143728600_143728601insTCCAGCACTTCGCTGAGCAGGTCCACATCAGT | CA2688981336 | FAM83H | c.860_861insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala288LeufsTer?) c.1463_1464insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala489LeufsTer?) c.40_41insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA c.917_918insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala307LeufsTer?) c.878_879insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala294LeufsTer?) c.1181_1182insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala395LeufsTer?) c.1028_1029insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala344LeufsTer?) | gnomAD v4 |
| 8 | g.143728600_143728601insTCCAGCACTTCGCTGAGCAGGTCCACATCAGTGAACATGTCCATCACCACGGCCACCACCT | CA2688981338 | FAM83H | c.860_861insAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala288GlyfsTer11) c.1463_1464insAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala489GlyfsTer11) c.40_41insAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA c.917_918insAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala307GlyfsTer11) c.878_879insAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala294GlyfsTer11) c.1181_1182insAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala395GlyfsTer11) c.1028_1029insAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala344GlyfsTer11) | gnomAD v4 |
| 8 | g.143728600_143728601insTCCAGCACTTCGCTGAGCAGGTCCACATCAGTGAACATGTCCATCACCACGGCCACCACCTGCA | CA2688981340 | FAM83H | c.860_861insTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala289GlyfsTer11) c.1463_1464insTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala490GlyfsTer11) c.40_41insTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA c.917_918insTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala308GlyfsTer11) c.878_879insTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala295GlyfsTer11) c.1181_1182insTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala396GlyfsTer11) c.1028_1029insTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala345GlyfsTer11) | gnomAD v4 |
| 8 | g.143728600_143728601insTCCAGCACTTCGCTGAGCAGGTCCACATCAGTGAACATGTCCATCACCACGGCCACCACCTGCAGGGGCGGGTCAGGACG | CA2688981342 | FAM83H | c.860_861insCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala288ValfsTer12) c.1463_1464insCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala489ValfsTer12) c.40_41insCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA c.917_918insCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala307ValfsTer12) c.878_879insCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala294ValfsTer12) c.1181_1182insCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala395ValfsTer12) c.1028_1029insCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala344ValfsTer12) | gnomAD v4 |
| 8 | g.143728600_143728601insTCCAGCACTTCGCTGAGCAGGTCCACATCAGTGAACATGTCCATCACCACGGCCACCACCTGCAGGGGCGGGTCAGGACGGA | CA2688981343 | FAM83H | c.860_861insTCCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala288ProfsTer3) c.1463_1464insTCCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala489ProfsTer3) c.40_41insTCCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA c.917_918insTCCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala307ProfsTer3) c.878_879insTCCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala294ProfsTer3) c.1181_1182insTCCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala395ProfsTer3) c.1028_1029insTCCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala344ProfsTer3) | gnomAD v4 |
| 8 | g.143728600_143728601insTCCAGCACTTCGCTGAGCAGGTCCACATCAGTGAACATGTCCATCACCACGGCCACCACCTGCAGGGGCGGGTCAGGACGGAGAGGA | CA2688981345 | FAM83H | c.860_861insTCCTCTCCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ser287_Ala288insProLeuArgProAspProProLeuGlnValValAlaValValMetAspMetPheThrAspValAspLeuLeuSerGluValLeuGlu) c.1463_1464insTCCTCTCCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ser488_Ala489insProLeuArgProAspProProLeuGlnValValAlaValValMetAspMetPheThrAspValAspLeuLeuSerGluValLeuGlu) c.40_41insTCCTCTCCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA c.917_918insTCCTCTCCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ser306_Ala307insProLeuArgProAspProProLeuGlnValValAlaValValMetAspMetPheThrAspValAspLeuLeuSerGluValLeuGlu) c.878_879insTCCTCTCCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ser293_Ala294insProLeuArgProAspProProLeuGlnValValAlaValValMetAspMetPheThrAspValAspLeuLeuSerGluValLeuGlu) c.1181_1182insTCCTCTCCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ser394_Ala395insProLeuArgProAspProProLeuGlnValValAlaValValMetAspMetPheThrAspValAspLeuLeuSerGluValLeuGlu) c.1028_1029insTCCTCTCCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ser343_Ala344insProLeuArgProAspProProLeuGlnValValAlaValValMetAspMetPheThrAspValAspLeuLeuSerGluValLeuGlu) | gnomAD v4 |
| 8 | g.143728601G>A | CA4917573 | FAM83H | c.860C>T (p.Ser287Leu) c.1463C>T (p.Ser488Leu) c.40C>T c.917C>T (p.Ser306Leu) c.878C>T (p.Ser293Leu) c.1181C>T (p.Ser394Leu) c.1028C>T (p.Ser343Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.143728601G>C | CA372469323 | FAM83H | c.860C>G (p.Ser287Trp) c.1463C>G (p.Ser488Trp) c.40C>G c.917C>G (p.Ser306Trp) c.878C>G (p.Ser293Trp) c.1181C>G (p.Ser394Trp) c.1028C>G (p.Ser343Trp) | gnomAD v4 |
| 8 | g.143728601G= | CA1825940871 | FAM83H | c.860C= (p.Ser287=) c.1463C= (p.Ser488=) c.40C= c.917C= (p.Ser306=) c.878C= (p.Ser293=) c.1181C= (p.Ser394=) c.1028C= (p.Ser343=) | |
| 8 | g.143728601G>T | CA114505 | FAM83H | c.860C>A (p.Ser287Ter) c.1463C>A (p.Ser488Ter) c.40C>A c.917C>A (p.Ser306Ter) c.878C>A (p.Ser293Ter) c.1181C>A (p.Ser394Ter) c.1028C>A (p.Ser343Ter) | ClinVar dbSNP |
| 8 | g.143728601_143728602insCACTTCGCTGAGCAGGTCCACATCAGTGAACATGTCCATCACCACGGCCACCACCTGC | CA2688981352 | FAM83H | c.859_860insGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTG (p.Ser287CysfsTer7) c.1462_1463insGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTG (p.Ser488CysfsTer7) c.39_40insGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTG c.916_917insGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTG (p.Ser306CysfsTer7) c.877_878insGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTG (p.Ser293CysfsTer7) c.1180_1181insGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTG (p.Ser394CysfsTer7) c.1027_1028insGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTG (p.Ser343CysfsTer7) | gnomAD v4 |
| 8 | g.143728602A>C | CA372469326 | FAM83H | c.859T>G (p.Ser287Ala) c.1462T>G (p.Ser488Ala) c.39T>G c.916T>G (p.Ser306Ala) c.877T>G (p.Ser293Ala) c.1180T>G (p.Ser394Ala) c.1027T>G (p.Ser343Ala) | |
| 8 | g.143728602A>G | CA372469328 | FAM83H | c.859T>C (p.Ser287Pro) c.1462T>C (p.Ser488Pro) c.39T>C c.916T>C (p.Ser306Pro) c.877T>C (p.Ser293Pro) c.1180T>C (p.Ser394Pro) c.1027T>C (p.Ser343Pro) | dbSNP |
| 8 | g.143728602A>T | CA372469329 | FAM83H | c.859T>A (p.Ser287Thr) c.1462T>A (p.Ser488Thr) c.39T>A c.916T>A (p.Ser306Thr) c.877T>A (p.Ser293Thr) c.1180T>A (p.Ser394Thr) c.1027T>A (p.Ser343Thr) | |
| 8 | g.143728603G>A | CA463519988 | FAM83H | c.858C>T (p.Pro286=) c.1461C>T (p.Pro487=) c.38C>T c.915C>T (p.Pro305=) c.876C>T (p.Pro292=) c.1179C>T (p.Pro393=) c.1026C>T (p.Pro342=) | |
| 8 | g.143728603G>C | CA463519985 | FAM83H | c.858C>G (p.Pro286=) c.1461C>G (p.Pro487=) c.38C>G c.915C>G (p.Pro305=) c.876C>G (p.Pro292=) c.1179C>G (p.Pro393=) c.1026C>G (p.Pro342=) | |
| 8 | g.143728603G>T | CA463519983 | FAM83H | c.858C>A (p.Pro286=) c.1461C>A (p.Pro487=) c.38C>A c.915C>A (p.Pro305=) c.876C>A (p.Pro292=) c.1179C>A (p.Pro393=) c.1026C>A (p.Pro342=) | |
| 8 | g.143728603_143728604insCAGGTCCACATCAGTGAACATGTCCATCACCACGGCCACCACCTGCAGGGGCG | CA2688981355 | FAM83H | c.858_859insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC (p.Ser287AlafsTer14) c.1461_1462insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC (p.Ser488AlafsTer14) c.38_39insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC c.915_916insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC (p.Ser306AlafsTer14) c.876_877insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC (p.Ser293AlafsTer14) c.1179_1180insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC (p.Ser394AlafsTer14) c.1026_1027insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC (p.Ser343AlafsTer14) | gnomAD v4 |
| 8 | g.143728604G>A | CA4917575 | FAM83H | c.857C>T (p.Pro286Leu) c.1460C>T (p.Pro487Leu) c.37C>T c.914C>T (p.Pro305Leu) c.875C>T (p.Pro292Leu) c.1178C>T (p.Pro393Leu) c.1025C>T (p.Pro342Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728604G>C | CA4917574 | FAM83H | c.857C>G (p.Pro286Arg) c.1460C>G (p.Pro487Arg) c.37C>G c.914C>G (p.Pro305Arg) c.875C>G (p.Pro292Arg) c.1178C>G (p.Pro393Arg) c.1025C>G (p.Pro342Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728604G= | CA1825940872 | FAM83H | c.857C= (p.Pro286=) c.1460C= (p.Pro487=) c.37C= c.914C= (p.Pro305=) c.875C= (p.Pro292=) c.1178C= (p.Pro393=) c.1025C= (p.Pro342=) | |
| 8 | g.143728604G>T | CA372469332 | FAM83H | c.857C>A (p.Pro286His) c.1460C>A (p.Pro487His) c.37C>A c.914C>A (p.Pro305His) c.875C>A (p.Pro292His) c.1178C>A (p.Pro393His) c.1025C>A (p.Pro342His) | |
| 8 | g.143728605G>A | CA372469334 | FAM83H | c.856C>T (p.Pro286Ser) c.1459C>T (p.Pro487Ser) c.36C>T c.913C>T (p.Pro305Ser) c.874C>T (p.Pro292Ser) c.1177C>T (p.Pro393Ser) c.1024C>T (p.Pro342Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728605G>C | CA372469335 | FAM83H | c.856C>G (p.Pro286Ala) c.1459C>G (p.Pro487Ala) c.36C>G c.913C>G (p.Pro305Ala) c.874C>G (p.Pro292Ala) c.1177C>G (p.Pro393Ala) c.1024C>G (p.Pro342Ala) | |
| 8 | g.143728605G= | CA1825940873 | FAM83H | c.856C= (p.Pro286=) c.1459C= (p.Pro487=) c.36C= c.913C= (p.Pro305=) c.874C= (p.Pro292=) c.1177C= (p.Pro393=) c.1024C= (p.Pro342=) | |
| 8 | g.143728605G>T | CA4917576 | FAM83H | c.856C>A (p.Pro286Thr) c.1459C>A (p.Pro487Thr) c.36C>A c.913C>A (p.Pro305Thr) c.874C>A (p.Pro292Thr) c.1177C>A (p.Pro393Thr) c.1024C>A (p.Pro342Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728606C>A | CA463520012 | FAM83H | c.855G>T (p.Val285=) c.1458G>T (p.Val486=) c.35G>T c.912G>T (p.Val304=) c.873G>T (p.Val291=) c.1176G>T (p.Val392=) c.1023G>T (p.Val341=) | |
| 8 | g.143728606C= | CA1825940874 | FAM83H | c.855G= (p.Val285=) c.1458G= (p.Val486=) c.35G= c.912G= (p.Val304=) c.873G= (p.Val291=) c.1176G= (p.Val392=) c.1023G= (p.Val341=) | |
| 8 | g.143728606C>G | CA463520009 | FAM83H | c.855G>C (p.Val285=) c.1458G>C (p.Val486=) c.35G>C c.912G>C (p.Val304=) c.873G>C (p.Val291=) c.1176G>C (p.Val392=) c.1023G>C (p.Val341=) | |
| 8 | g.143728606C>T | CA4917577 | FAM83H | c.855G>A (p.Val285=) c.1458G>A (p.Val486=) c.35G>A c.912G>A (p.Val304=) c.873G>A (p.Val291=) c.1176G>A (p.Val392=) c.1023G>A (p.Val341=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728607A>C | CA372469336 | FAM83H | c.854T>G (p.Val285Gly) c.1457T>G (p.Val486Gly) c.34T>G c.911T>G (p.Val304Gly) c.872T>G (p.Val291Gly) c.1175T>G (p.Val392Gly) c.1022T>G (p.Val341Gly) | gnomAD v4 |
| 8 | g.143728607A>G | CA372469339 | FAM83H | c.854T>C (p.Val285Ala) c.1457T>C (p.Val486Ala) c.34T>C c.911T>C (p.Val304Ala) c.872T>C (p.Val291Ala) c.1175T>C (p.Val392Ala) c.1022T>C (p.Val341Ala) | |
| 8 | g.143728607A>T | CA372469341 | FAM83H | c.854T>A (p.Val285Glu) c.1457T>A (p.Val486Glu) c.34T>A c.911T>A (p.Val304Glu) c.872T>A (p.Val291Glu) c.1175T>A (p.Val392Glu) c.1022T>A (p.Val341Glu) | |
| 8 | g.143728608C>A | CA372469342 | FAM83H | c.853G>T (p.Val285Leu) c.1456G>T (p.Val486Leu) c.33G>T c.910G>T (p.Val304Leu) c.871G>T (p.Val291Leu) c.1174G>T (p.Val392Leu) c.1021G>T (p.Val341Leu) | |
| 8 | g.143728608C>G | CA372469346 | FAM83H | c.853G>C (p.Val285Leu) c.1456G>C (p.Val486Leu) c.33G>C c.910G>C (p.Val304Leu) c.871G>C (p.Val291Leu) c.1174G>C (p.Val392Leu) c.1021G>C (p.Val341Leu) | |
| 8 | g.143728608C>T | CA372469344 | FAM83H | c.853G>A (p.Val285Met) c.1456G>A (p.Val486Met) c.33G>A c.910G>A (p.Val304Met) c.871G>A (p.Val291Met) c.1174G>A (p.Val392Met) c.1021G>A (p.Val341Met) | |
| 8 | g.143728609A= | CA1825940875 | FAM83H | c.852T= (p.Leu284=) c.1455T= (p.Leu485=) c.32T= c.909T= (p.Leu303=) c.870T= (p.Leu290=) c.1173T= (p.Leu391=) c.1020T= (p.Leu340=) | |
| 8 | g.143728609A>C | CA463520025 | FAM83H | c.852T>G (p.Leu284=) c.1455T>G (p.Leu485=) c.32T>G c.909T>G (p.Leu303=) c.870T>G (p.Leu290=) c.1173T>G (p.Leu391=) c.1020T>G (p.Leu340=) | |
| 8 | g.143728609A>G | CA463520022 | FAM83H | c.852T>C (p.Leu284=) c.1455T>C (p.Leu485=) c.32T>C c.909T>C (p.Leu303=) c.870T>C (p.Leu290=) c.1173T>C (p.Leu391=) c.1020T>C (p.Leu340=) | dbSNP |
| 8 | g.143728609A>T | CA463520019 | FAM83H | c.852T>A (p.Leu284=) c.1455T>A (p.Leu485=) c.32T>A c.909T>A (p.Leu303=) c.870T>A (p.Leu290=) c.1173T>A (p.Leu391=) c.1020T>A (p.Leu340=) | |
| 8 | g.143728610A= | CA1825940876 | FAM83H | c.851T= (p.Leu284=) c.1454T= (p.Leu485=) c.31T= c.908T= (p.Leu303=) c.869T= (p.Leu290=) c.1172T= (p.Leu391=) c.1019T= (p.Leu340=) | |
| 8 | g.143728610A>C | CA372469348 | FAM83H | c.851T>G (p.Leu284Arg) c.1454T>G (p.Leu485Arg) c.31T>G c.908T>G (p.Leu303Arg) c.869T>G (p.Leu290Arg) c.1172T>G (p.Leu391Arg) c.1019T>G (p.Leu340Arg) | |
| 8 | g.143728610A>G | CA372469350 | FAM83H | c.851T>C (p.Leu284Pro) c.1454T>C (p.Leu485Pro) c.31T>C c.908T>C (p.Leu303Pro) c.869T>C (p.Leu290Pro) c.1172T>C (p.Leu391Pro) c.1019T>C (p.Leu340Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728610A>T | CA372469352 | FAM83H | c.851T>A (p.Leu284His) c.1454T>A (p.Leu485His) c.31T>A c.908T>A (p.Leu303His) c.869T>A (p.Leu290His) c.1172T>A (p.Leu391His) c.1019T>A (p.Leu340His) | |
| 8 | g.143728611G>A | CA372469353 | FAM83H | c.850C>T (p.Leu284Phe) c.1453C>T (p.Leu485Phe) c.30C>T c.907C>T (p.Leu303Phe) c.868C>T (p.Leu290Phe) c.1171C>T (p.Leu391Phe) c.1018C>T (p.Leu340Phe) | |
| 8 | g.143728611G>C | CA372469354 | FAM83H | c.850C>G (p.Leu284Val) c.1453C>G (p.Leu485Val) c.30C>G c.907C>G (p.Leu303Val) c.868C>G (p.Leu290Val) c.1171C>G (p.Leu391Val) c.1018C>G (p.Leu340Val) | |
| 8 | g.143728611G>T | CA372469355 | FAM83H | c.850C>A (p.Leu284Ile) c.1453C>A (p.Leu485Ile) c.30C>A c.907C>A (p.Leu303Ile) c.868C>A (p.Leu290Ile) c.1171C>A (p.Leu391Ile) c.1018C>A (p.Leu340Ile) | |
| 8 | g.143728612C>A | CA463520033 | FAM83H | c.849G>T (p.Pro283=) c.1452G>T (p.Pro484=) c.29G>T c.906G>T (p.Pro302=) c.867G>T (p.Pro289=) c.1170G>T (p.Pro390=) c.1017G>T (p.Pro339=) | |
| 8 | g.143728612C= | CA1825940877 | FAM83H | c.849G= (p.Pro283=) c.1452G= (p.Pro484=) c.29G= c.906G= (p.Pro302=) c.867G= (p.Pro289=) c.1170G= (p.Pro390=) c.1017G= (p.Pro339=) | |
| 8 | g.143728612C>G | CA463520031 | FAM83H | c.849G>C (p.Pro283=) c.1452G>C (p.Pro484=) c.29G>C c.906G>C (p.Pro302=) c.867G>C (p.Pro289=) c.1170G>C (p.Pro390=) c.1017G>C (p.Pro339=) | |
| 8 | g.143728612C>T | CA4917578 | FAM83H | c.849G>A (p.Pro283=) c.1452G>A (p.Pro484=) c.29G>A c.906G>A (p.Pro302=) c.867G>A (p.Pro289=) c.1170G>A (p.Pro390=) c.1017G>A (p.Pro339=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728613G>A | CA372469356 | FAM83H | c.848C>T (p.Pro283Leu) c.1451C>T (p.Pro484Leu) c.28C>T c.905C>T (p.Pro302Leu) c.866C>T (p.Pro289Leu) c.1169C>T (p.Pro390Leu) c.1016C>T (p.Pro339Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728613G>C | CA372469357 | FAM83H | c.848C>G (p.Pro283Arg) c.1451C>G (p.Pro484Arg) c.28C>G c.905C>G (p.Pro302Arg) c.866C>G (p.Pro289Arg) c.1169C>G (p.Pro390Arg) c.1016C>G (p.Pro339Arg) | |
| 8 | g.143728613G= | CA1825940878 | FAM83H | c.848C= (p.Pro283=) c.1451C= (p.Pro484=) c.28C= c.905C= (p.Pro302=) c.866C= (p.Pro289=) c.1169C= (p.Pro390=) c.1016C= (p.Pro339=) | |
| 8 | g.143728613G>T | CA372469358 | FAM83H | c.848C>A (p.Pro283Gln) c.1451C>A (p.Pro484Gln) c.28C>A c.905C>A (p.Pro302Gln) c.866C>A (p.Pro289Gln) c.1169C>A (p.Pro390Gln) c.1016C>A (p.Pro339Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728614G>A | CA372469360 | FAM83H | c.847C>T (p.Pro283Ser) c.1450C>T (p.Pro484Ser) c.27C>T c.904C>T (p.Pro302Ser) c.865C>T (p.Pro289Ser) c.1168C>T (p.Pro390Ser) c.1015C>T (p.Pro339Ser) | |
| 8 | g.143728614G>C | CA372469361 | FAM83H | c.847C>G (p.Pro283Ala) c.1450C>G (p.Pro484Ala) c.27C>G c.904C>G (p.Pro302Ala) c.865C>G (p.Pro289Ala) c.1168C>G (p.Pro390Ala) c.1015C>G (p.Pro339Ala) | |
| 8 | g.143728614G>T | CA372469359 | FAM83H | c.847C>A (p.Pro283Thr) c.1450C>A (p.Pro484Thr) c.27C>A c.904C>A (p.Pro302Thr) c.865C>A (p.Pro289Thr) c.1168C>A (p.Pro390Thr) c.1015C>A (p.Pro339Thr) | gnomAD v4 |
| 8 | g.143728615C>A | CA372469363 | FAM83H | c.846G>T (p.Glu282Asp) c.1449G>T (p.Glu483Asp) c.26G>T c.903G>T (p.Glu301Asp) c.864G>T (p.Glu288Asp) c.1167G>T (p.Glu389Asp) c.1014G>T (p.Glu338Asp) | gnomAD v4 |
| 8 | g.143728615C>G | CA372469362 | FAM83H | c.846G>C (p.Glu282Asp) c.1449G>C (p.Glu483Asp) c.26G>C c.903G>C (p.Glu301Asp) c.864G>C (p.Glu288Asp) c.1167G>C (p.Glu389Asp) c.1014G>C (p.Glu338Asp) | |
| 8 | g.143728615C>T | CA463520044 | FAM83H | c.846G>A (p.Glu282=) c.1449G>A (p.Glu483=) c.26G>A c.903G>A (p.Glu301=) c.864G>A (p.Glu288=) c.1167G>A (p.Glu389=) c.1014G>A (p.Glu338=) | gnomAD v4 |
| 8 | g.143728616T>A | CA372469364 | FAM83H | c.845A>T (p.Glu282Val) c.1448A>T (p.Glu483Val) c.25A>T c.902A>T (p.Glu301Val) c.863A>T (p.Glu288Val) c.1166A>T (p.Glu389Val) c.1013A>T (p.Glu338Val) | |
| 8 | g.143728616T>C | CA372469365 | FAM83H | c.845A>G (p.Glu282Gly) c.1448A>G (p.Glu483Gly) c.25A>G c.902A>G (p.Glu301Gly) c.863A>G (p.Glu288Gly) c.1166A>G (p.Glu389Gly) c.1013A>G (p.Glu338Gly) | |
| 8 | g.143728616T>G | CA372469366 | FAM83H | c.845A>C (p.Glu282Ala) c.1448A>C (p.Glu483Ala) c.25A>C c.902A>C (p.Glu301Ala) c.863A>C (p.Glu288Ala) c.1166A>C (p.Glu389Ala) c.1013A>C (p.Glu338Ala) | |
| 8 | g.143728616dup | CA2688981369 | FAM83H | c.845dup (p.Pro283AlafsTer?) c.1448dup (p.Pro484AlafsTer?) c.25dup c.902dup (p.Pro302AlafsTer?) c.863dup (p.Pro289AlafsTer?) c.1166dup (p.Pro390AlafsTer?) c.1013dup (p.Pro339AlafsTer?) | gnomAD v4 |
| 8 | g.143728617C>A | CA372469367 | FAM83H | c.844G>T (p.Glu282Ter) c.1447G>T (p.Glu483Ter) c.24G>T c.901G>T (p.Glu301Ter) c.862G>T (p.Glu288Ter) c.1165G>T (p.Glu389Ter) c.1012G>T (p.Glu338Ter) | |
| 8 | g.143728617C= | CA1825940879 | FAM83H | c.844G= (p.Glu282=) c.1447G= (p.Glu483=) c.24G= c.901G= (p.Glu301=) c.862G= (p.Glu288=) c.1165G= (p.Glu389=) c.1012G= (p.Glu338=) | |
| 8 | g.143728617C>G | CA372469368 | FAM83H | c.844G>C (p.Glu282Gln) c.1447G>C (p.Glu483Gln) c.24G>C c.901G>C (p.Glu301Gln) c.862G>C (p.Glu288Gln) c.1165G>C (p.Glu389Gln) c.1012G>C (p.Glu338Gln) | gnomAD v4 |
| 8 | g.143728617C>T | CA372469369 | FAM83H | c.844G>A (p.Glu282Lys) c.1447G>A (p.Glu483Lys) c.24G>A c.901G>A (p.Glu301Lys) c.862G>A (p.Glu288Lys) c.1165G>A (p.Glu389Lys) c.1012G>A (p.Glu338Lys) | dbSNP gnomAD v4 |
| 8 | g.143728618G>A | CA463520048 | FAM83H | c.843C>T (p.Ser281=) c.1446C>T (p.Ser482=) c.23C>T c.900C>T (p.Ser300=) c.861C>T (p.Ser287=) c.1164C>T (p.Ser388=) c.1011C>T (p.Ser337=) | gnomAD v4 |
| 8 | g.143728618G>C | CA463520051 | FAM83H | c.843C>G (p.Ser281=) c.1446C>G (p.Ser482=) c.23C>G c.900C>G (p.Ser300=) c.861C>G (p.Ser287=) c.1164C>G (p.Ser388=) c.1011C>G (p.Ser337=) | |
| 8 | g.143728618G= | CA1825940880 | FAM83H | c.843C= (p.Ser281=) c.1446C= (p.Ser482=) c.23C= c.900C= (p.Ser300=) c.861C= (p.Ser287=) c.1164C= (p.Ser388=) c.1011C= (p.Ser337=) | |
| 8 | g.143728618G>T | CA4917579 | FAM83H | c.843C>A (p.Ser281=) c.1446C>A (p.Ser482=) c.23C>A c.900C>A (p.Ser300=) c.861C>A (p.Ser287=) c.1164C>A (p.Ser388=) c.1011C>A (p.Ser337=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728619G>A | CA372469371 | FAM83H | c.842C>T (p.Ser281Phe) c.1445C>T (p.Ser482Phe) c.22C>T c.899C>T (p.Ser300Phe) c.860C>T (p.Ser287Phe) c.1163C>T (p.Ser388Phe) c.1010C>T (p.Ser337Phe) | gnomAD v4 |
| 8 | g.143728619G>C | CA372469372 | FAM83H | c.842C>G (p.Ser281Cys) c.1445C>G (p.Ser482Cys) c.22C>G c.899C>G (p.Ser300Cys) c.860C>G (p.Ser287Cys) c.1163C>G (p.Ser388Cys) c.1010C>G (p.Ser337Cys) | |
| 8 | g.143728619G>T | CA372469373 | FAM83H | c.842C>A (p.Ser281Tyr) c.1445C>A (p.Ser482Tyr) c.22C>A c.899C>A (p.Ser300Tyr) c.860C>A (p.Ser287Tyr) c.1163C>A (p.Ser388Tyr) c.1010C>A (p.Ser337Tyr) | |
| 8 | g.143728620A>C | CA372469374 | FAM83H | c.841T>G (p.Ser281Ala) c.1444T>G (p.Ser482Ala) c.21T>G c.898T>G (p.Ser300Ala) c.859T>G (p.Ser287Ala) c.1162T>G (p.Ser388Ala) c.1009T>G (p.Ser337Ala) | |
| 8 | g.143728620A>G | CA372469375 | FAM83H | c.841T>C (p.Ser281Pro) c.1444T>C (p.Ser482Pro) c.21T>C c.898T>C (p.Ser300Pro) c.859T>C (p.Ser287Pro) c.1162T>C (p.Ser388Pro) c.1009T>C (p.Ser337Pro) | |
| 8 | g.143728620A>T | CA372469376 | FAM83H | c.841T>A (p.Ser281Thr) c.1444T>A (p.Ser482Thr) c.21T>A c.898T>A (p.Ser300Thr) c.859T>A (p.Ser287Thr) c.1162T>A (p.Ser388Thr) c.1009T>A (p.Ser337Thr) | |
| 8 | g.143728621C>A | CA4917580 | FAM83H | c.840G>T (p.Gln280His) c.1443G>T (p.Gln481His) c.20G>T c.897G>T (p.Gln299His) c.858G>T (p.Gln286His) c.1161G>T (p.Gln387His) c.1008G>T (p.Gln336His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728621C= | CA1825940881 | FAM83H | c.840G= (p.Gln280=) c.1443G= (p.Gln481=) c.20G= c.897G= (p.Gln299=) c.858G= (p.Gln286=) c.1161G= (p.Gln387=) c.1008G= (p.Gln336=) | |
| 8 | g.143728621C>G | CA4917581 | FAM83H | c.840G>C (p.Gln280His) c.1443G>C (p.Gln481His) c.20G>C c.897G>C (p.Gln299His) c.858G>C (p.Gln286His) c.1161G>C (p.Gln387His) c.1008G>C (p.Gln336His) | dbSNP ExAC gnomAD v2 |
| 8 | g.143728621C>T | CA463520055 | FAM83H | c.840G>A (p.Gln280=) c.1443G>A (p.Gln481=) c.20G>A c.897G>A (p.Gln299=) c.858G>A (p.Gln286=) c.1161G>A (p.Gln387=) c.1008G>A (p.Gln336=) | gnomAD v4 |
| 8 | g.143728622T>A | CA372469377 | FAM83H | c.839A>T (p.Gln280Leu) c.1442A>T (p.Gln481Leu) c.19A>T c.896A>T (p.Gln299Leu) c.857A>T (p.Gln286Leu) c.1160A>T (p.Gln387Leu) c.1007A>T (p.Gln336Leu) | |
| 8 | g.143728622T>C | CA372469378 | FAM83H | c.839A>G (p.Gln280Arg) c.1442A>G (p.Gln481Arg) c.19A>G c.896A>G (p.Gln299Arg) c.857A>G (p.Gln286Arg) c.1160A>G (p.Gln387Arg) c.1007A>G (p.Gln336Arg) | |
| 8 | g.143728622T>G | CA372469379 | FAM83H | c.839A>C (p.Gln280Pro) c.1442A>C (p.Gln481Pro) c.19A>C c.896A>C (p.Gln299Pro) c.857A>C (p.Gln286Pro) c.1160A>C (p.Gln387Pro) c.1007A>C (p.Gln336Pro) | |
| 8 | g.143728623G>A | CA372469380 | FAM83H | c.838C>T (p.Gln280Ter) c.1441C>T (p.Gln481Ter) c.18C>T c.895C>T (p.Gln299Ter) c.856C>T (p.Gln286Ter) c.1159C>T (p.Gln387Ter) c.1006C>T (p.Gln336Ter) | gnomAD v4 |
| 8 | g.143728623G>C | CA372469381 | FAM83H | c.838C>G (p.Gln280Glu) c.1441C>G (p.Gln481Glu) c.18C>G c.895C>G (p.Gln299Glu) c.856C>G (p.Gln286Glu) c.1159C>G (p.Gln387Glu) c.1006C>G (p.Gln336Glu) | |
| 8 | g.143728623G= | CA1825940882 | FAM83H | c.838C= (p.Gln280=) c.1441C= (p.Gln481=) c.18C= c.895C= (p.Gln299=) c.856C= (p.Gln286=) c.1159C= (p.Gln387=) c.1006C= (p.Gln336=) | |
| 8 | g.143728623G>T | CA372469382 | FAM83H | c.838C>A (p.Gln280Lys) c.1441C>A (p.Gln481Lys) c.18C>A c.895C>A (p.Gln299Lys) c.856C>A (p.Gln286Lys) c.1159C>A (p.Gln387Lys) c.1006C>A (p.Gln336Lys) | dbSNP gnomAD v2 |
| 8 | g.143728624C>A | CA463520062 | FAM83H | c.837G>T (p.Ala279=) c.1440G>T (p.Ala480=) c.17G>T c.894G>T (p.Ala298=) c.855G>T (p.Ala285=) c.1158G>T (p.Ala386=) c.1005G>T (p.Ala335=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728624C= | CA1825940883 | FAM83H | c.837G= (p.Ala279=) c.1440G= (p.Ala480=) c.17G= c.894G= (p.Ala298=) c.855G= (p.Ala285=) c.1158G= (p.Ala386=) c.1005G= (p.Ala335=) | |
| 8 | g.143728624C>G | CA463520064 | FAM83H | c.837G>C (p.Ala279=) c.1440G>C (p.Ala480=) c.17G>C c.894G>C (p.Ala298=) c.855G>C (p.Ala285=) c.1158G>C (p.Ala386=) c.1005G>C (p.Ala335=) | |
| 8 | g.143728624C>T | CA463520070 | FAM83H | c.837G>A (p.Ala279=) c.1440G>A (p.Ala480=) c.17G>A c.894G>A (p.Ala298=) c.855G>A (p.Ala285=) c.1158G>A (p.Ala386=) c.1005G>A (p.Ala335=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728625G>A | CA372469383 | FAM83H | c.836C>T (p.Ala279Val) c.1439C>T (p.Ala480Val) c.16C>T c.893C>T (p.Ala298Val) c.854C>T (p.Ala285Val) c.1157C>T (p.Ala386Val) c.1004C>T (p.Ala335Val) | dbSNP gnomAD v4 |
| 8 | g.143728625G>C | CA372469384 | FAM83H | c.836C>G (p.Ala279Gly) c.1439C>G (p.Ala480Gly) c.16C>G c.893C>G (p.Ala298Gly) c.854C>G (p.Ala285Gly) c.1157C>G (p.Ala386Gly) c.1004C>G (p.Ala335Gly) | |
| 8 | g.143728625G= | CA1825940884 | FAM83H | c.836C= (p.Ala279=) c.1439C= (p.Ala480=) c.16C= c.893C= (p.Ala298=) c.854C= (p.Ala285=) c.1157C= (p.Ala386=) c.1004C= (p.Ala335=) | |
| 8 | g.143728625G>T | CA372469385 | FAM83H | c.836C>A (p.Ala279Glu) c.1439C>A (p.Ala480Glu) c.16C>A c.893C>A (p.Ala298Glu) c.854C>A (p.Ala285Glu) c.1157C>A (p.Ala386Glu) c.1004C>A (p.Ala335Glu) | gnomAD v4 |
| 8 | g.143728626C>A | CA372469386 | FAM83H | c.835G>T (p.Ala279Ser) c.1438G>T (p.Ala480Ser) c.15G>T c.892G>T (p.Ala298Ser) c.853G>T (p.Ala285Ser) c.1156G>T (p.Ala386Ser) c.1003G>T (p.Ala335Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728626C= | CA1825940885 | FAM83H | c.835G= (p.Ala279=) c.1438G= (p.Ala480=) c.15G= c.892G= (p.Ala298=) c.853G= (p.Ala285=) c.1156G= (p.Ala386=) c.1003G= (p.Ala335=) | |
| 8 | g.143728626C>G | CA372469387 | FAM83H | c.835G>C (p.Ala279Pro) c.1438G>C (p.Ala480Pro) c.15G>C c.892G>C (p.Ala298Pro) c.853G>C (p.Ala285Pro) c.1156G>C (p.Ala386Pro) c.1003G>C (p.Ala335Pro) | |
| 8 | g.143728626C>T | CA4917582 | FAM83H | c.835G>A (p.Ala279Thr) c.1438G>A (p.Ala480Thr) c.15G>A c.892G>A (p.Ala298Thr) c.853G>A (p.Ala285Thr) c.1156G>A (p.Ala386Thr) c.1003G>A (p.Ala335Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728627G>A | CA4917583 | FAM83H | c.834C>T (p.Phe278=) c.1437C>T (p.Phe479=) c.14C>T c.891C>T (p.Phe297=) c.852C>T (p.Phe284=) c.1155C>T (p.Phe385=) c.1002C>T (p.Phe334=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728627G>C | CA372469389 | FAM83H | c.834C>G (p.Phe278Leu) c.1437C>G (p.Phe479Leu) c.14C>G c.891C>G (p.Phe297Leu) c.852C>G (p.Phe284Leu) c.1155C>G (p.Phe385Leu) c.1002C>G (p.Phe334Leu) | dbSNP gnomAD v2 |
| 8 | g.143728627G= | CA1825940886 | FAM83H | c.834C= (p.Phe278=) c.1437C= (p.Phe479=) c.14C= c.891C= (p.Phe297=) c.852C= (p.Phe284=) c.1155C= (p.Phe385=) c.1002C= (p.Phe334=) | |
| 8 | g.143728627G>T | CA372469388 | FAM83H | c.834C>A (p.Phe278Leu) c.1437C>A (p.Phe479Leu) c.14C>A c.891C>A (p.Phe297Leu) c.852C>A (p.Phe284Leu) c.1155C>A (p.Phe385Leu) c.1002C>A (p.Phe334Leu) | |
| 8 | g.143728628A>C | CA372469390 | FAM83H | c.833T>G (p.Phe278Cys) c.1436T>G (p.Phe479Cys) c.13T>G c.890T>G (p.Phe297Cys) c.851T>G (p.Phe284Cys) c.1154T>G (p.Phe385Cys) c.1001T>G (p.Phe334Cys) | |
| 8 | g.143728628A>G | CA372469391 | FAM83H | c.833T>C (p.Phe278Ser) c.1436T>C (p.Phe479Ser) c.13T>C c.890T>C (p.Phe297Ser) c.851T>C (p.Phe284Ser) c.1154T>C (p.Phe385Ser) c.1001T>C (p.Phe334Ser) | |
| 8 | g.143728628A>T | CA372469392 | FAM83H | c.833T>A (p.Phe278Tyr) c.1436T>A (p.Phe479Tyr) c.13T>A c.890T>A (p.Phe297Tyr) c.851T>A (p.Phe284Tyr) c.1154T>A (p.Phe385Tyr) c.1001T>A (p.Phe334Tyr) | |
| 8 | g.143728629A>C | CA372469393 | FAM83H | c.832T>G (p.Phe278Val) c.1435T>G (p.Phe479Val) c.12T>G c.889T>G (p.Phe297Val) c.850T>G (p.Phe284Val) c.1153T>G (p.Phe385Val) c.1000T>G (p.Phe334Val) | |
| 8 | g.143728629A>G | CA372469394 | FAM83H | c.832T>C (p.Phe278Leu) c.1435T>C (p.Phe479Leu) c.12T>C c.889T>C (p.Phe297Leu) c.850T>C (p.Phe284Leu) c.1153T>C (p.Phe385Leu) c.1000T>C (p.Phe334Leu) | |
| 8 | g.143728629A>T | CA372469395 | FAM83H | c.832T>A (p.Phe278Ile) c.1435T>A (p.Phe479Ile) c.12T>A c.889T>A (p.Phe297Ile) c.850T>A (p.Phe284Ile) c.1153T>A (p.Phe385Ile) c.1000T>A (p.Phe334Ile) | |
| 8 | g.143728630G>A | CA4917584 | FAM83H | c.831C>T (p.Leu277=) c.1434C>T (p.Leu478=) c.11C>T c.888C>T (p.Leu296=) c.849C>T (p.Leu283=) c.1152C>T (p.Leu384=) c.999C>T (p.Leu333=) | dbSNP ExAC gnomAD v2 |
| 8 | g.143728630G>C | CA463520080 | FAM83H | c.831C>G (p.Leu277=) c.1434C>G (p.Leu478=) c.11C>G c.888C>G (p.Leu296=) c.849C>G (p.Leu283=) c.1152C>G (p.Leu384=) c.999C>G (p.Leu333=) | |
| 8 | g.143728630G= | CA1825940887 | FAM83H | c.831C= (p.Leu277=) c.1434C= (p.Leu478=) c.11C= c.888C= (p.Leu296=) c.849C= (p.Leu283=) c.1152C= (p.Leu384=) c.999C= (p.Leu333=) | |
| 8 | g.143728630G>T | CA463520081 | FAM83H | c.831C>A (p.Leu277=) c.1434C>A (p.Leu478=) c.11C>A c.888C>A (p.Leu296=) c.849C>A (p.Leu283=) c.1152C>A (p.Leu384=) c.999C>A (p.Leu333=) | |
| 8 | g.143728631A>C | CA372469396 | FAM83H | c.830T>G (p.Leu277Arg) c.1433T>G (p.Leu478Arg) c.10T>G c.887T>G (p.Leu296Arg) c.848T>G (p.Leu283Arg) c.1151T>G (p.Leu384Arg) c.998T>G (p.Leu333Arg) | |
| 8 | g.143728631A>G | CA372469398 | FAM83H | c.830T>C (p.Leu277Pro) c.1433T>C (p.Leu478Pro) c.10T>C c.887T>C (p.Leu296Pro) c.848T>C (p.Leu283Pro) c.1151T>C (p.Leu384Pro) c.998T>C (p.Leu333Pro) | |
| 8 | g.143728631A>T | CA372469397 | FAM83H | c.830T>A (p.Leu277His) c.1433T>A (p.Leu478His) c.10T>A c.887T>A (p.Leu296His) c.848T>A (p.Leu283His) c.1151T>A (p.Leu384His) c.998T>A (p.Leu333His) | |
| 8 | g.143728632G>A | CA372469399 | FAM83H | c.829C>T (p.Leu277Phe) c.1432C>T (p.Leu478Phe) c.9C>T c.886C>T (p.Leu296Phe) c.847C>T (p.Leu283Phe) c.1150C>T (p.Leu384Phe) c.997C>T (p.Leu333Phe) | dbSNP |
| 8 | g.143728632G>C | CA372469400 | FAM83H | c.829C>G (p.Leu277Val) c.1432C>G (p.Leu478Val) c.9C>G c.886C>G (p.Leu296Val) c.847C>G (p.Leu283Val) c.1150C>G (p.Leu384Val) c.997C>G (p.Leu333Val) | |
| 8 | g.143728632G= | CA1825940888 | FAM83H | c.829C= (p.Leu277=) c.1432C= (p.Leu478=) c.9C= c.886C= (p.Leu296=) c.847C= (p.Leu283=) c.1150C= (p.Leu384=) c.997C= (p.Leu333=) | |
| 8 | g.143728632G>T | CA372469401 | FAM83H | c.829C>A (p.Leu277Ile) c.1432C>A (p.Leu478Ile) c.9C>A c.886C>A (p.Leu296Ile) c.847C>A (p.Leu283Ile) c.1150C>A (p.Leu384Ile) c.997C>A (p.Leu333Ile) | |
| 8 | g.143728633G>A | CA463520085 | FAM83H | c.828C>T (p.Ile276=) c.1431C>T (p.Ile477=) c.8C>T c.885C>T (p.Ile295=) c.846C>T (p.Ile282=) c.1149C>T (p.Ile383=) c.996C>T (p.Ile332=) | dbSNP gnomAD v4 |
| 8 | g.143728633G>C | CA372469402 | FAM83H | c.828C>G (p.Ile276Met) c.1431C>G (p.Ile477Met) c.8C>G c.885C>G (p.Ile295Met) c.846C>G (p.Ile282Met) c.1149C>G (p.Ile383Met) c.996C>G (p.Ile332Met) | |
| 8 | g.143728633G= | CA1825940889 | FAM83H | c.828C= (p.Ile276=) c.1431C= (p.Ile477=) c.8C= c.885C= (p.Ile295=) c.846C= (p.Ile282=) c.1149C= (p.Ile383=) c.996C= (p.Ile332=) | |
| 8 | g.143728633G>T | CA463520086 | FAM83H | c.828C>A (p.Ile276=) c.1431C>A (p.Ile477=) c.8C>A c.885C>A (p.Ile295=) c.846C>A (p.Ile282=) c.1149C>A (p.Ile383=) c.996C>A (p.Ile332=) | gnomAD v4 |
| 8 | g.143728634A= | CA1825940890 | FAM83H | c.827T= (p.Ile276=) c.1430T= (p.Ile477=) c.7T= c.884T= (p.Ile295=) c.845T= (p.Ile282=) c.1148T= (p.Ile383=) c.995T= (p.Ile332=) | |
| 8 | g.143728634A>C | CA372469403 | FAM83H | c.827T>G (p.Ile276Ser) c.1430T>G (p.Ile477Ser) c.7T>G c.884T>G (p.Ile295Ser) c.845T>G (p.Ile282Ser) c.1148T>G (p.Ile383Ser) c.995T>G (p.Ile332Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728634A>G | CA372469405 | FAM83H | c.827T>C (p.Ile276Thr) c.1430T>C (p.Ile477Thr) c.7T>C c.884T>C (p.Ile295Thr) c.845T>C (p.Ile282Thr) c.1148T>C (p.Ile383Thr) c.995T>C (p.Ile332Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728634A>T | CA372469404 | FAM83H | c.827T>A (p.Ile276Asn) c.1430T>A (p.Ile477Asn) c.7T>A c.884T>A (p.Ile295Asn) c.845T>A (p.Ile282Asn) c.1148T>A (p.Ile383Asn) c.995T>A (p.Ile332Asn) | |
| 8 | g.143728635T>A | CA372469406 | FAM83H | c.826A>T (p.Ile276Phe) c.1429A>T (p.Ile477Phe) c.6A>T c.883A>T (p.Ile295Phe) c.844A>T (p.Ile282Phe) c.1147A>T (p.Ile383Phe) c.994A>T (p.Ile332Phe) | |
| 8 | g.143728635T>C | CA372469407 | FAM83H | c.826A>G (p.Ile276Val) c.1429A>G (p.Ile477Val) c.6A>G c.883A>G (p.Ile295Val) c.844A>G (p.Ile282Val) c.1147A>G (p.Ile383Val) c.994A>G (p.Ile332Val) | |
| 8 | g.143728635T>G | CA372469408 | FAM83H | c.826A>C (p.Ile276Leu) c.1429A>C (p.Ile477Leu) c.6A>C c.883A>C (p.Ile295Leu) c.844A>C (p.Ile282Leu) c.1147A>C (p.Ile383Leu) c.994A>C (p.Ile332Leu) | |
| 8 | g.143728636G>A | CA463520094 | FAM83H | c.825C>T (p.Arg275=) c.1428C>T (p.Arg476=) c.5C>T c.882C>T (p.Arg294=) c.843C>T (p.Arg281=) c.1146C>T (p.Arg382=) c.993C>T (p.Arg331=) | gnomAD v4 |
| 8 | g.143728636G>C | CA463520096 | FAM83H | c.825C>G (p.Arg275=) c.1428C>G (p.Arg476=) c.5C>G c.882C>G (p.Arg294=) c.843C>G (p.Arg281=) c.1146C>G (p.Arg382=) c.993C>G (p.Arg331=) | |
| 8 | g.143728636G>T | CA463520100 | FAM83H | c.825C>A (p.Arg275=) c.1428C>A (p.Arg476=) c.5C>A c.882C>A (p.Arg294=) c.843C>A (p.Arg281=) c.1146C>A (p.Arg382=) c.993C>A (p.Arg331=) | gnomAD v4 |
| 8 | g.143728637C>A | CA372469409 | FAM83H | c.824G>T (p.Arg275Leu) c.1427G>T (p.Arg476Leu) c.4G>T c.881G>T (p.Arg294Leu) c.842G>T (p.Arg281Leu) c.1145G>T (p.Arg382Leu) c.992G>T (p.Arg331Leu) | gnomAD v4 |
| 8 | g.143728637C>G | CA372469410 | FAM83H | c.824G>C (p.Arg275Pro) c.1427G>C (p.Arg476Pro) c.4G>C c.881G>C (p.Arg294Pro) c.842G>C (p.Arg281Pro) c.1145G>C (p.Arg382Pro) c.992G>C (p.Arg331Pro) | |
| 8 | g.143728637C>T | CA372469411 | FAM83H | c.824G>A (p.Arg275His) c.1427G>A (p.Arg476His) c.4G>A c.881G>A (p.Arg294His) c.842G>A (p.Arg281His) c.1145G>A (p.Arg382His) c.992G>A (p.Arg331His) | gnomAD v4 |
| 8 | g.143728638G>A | CA372469412 | FAM83H | c.823C>T (p.Arg275Cys) c.1426C>T (p.Arg476Cys) c.3C>T c.880C>T (p.Arg294Cys) c.841C>T (p.Arg281Cys) c.1144C>T (p.Arg382Cys) c.991C>T (p.Arg331Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728638G>C | CA372469413 | FAM83H | c.823C>G (p.Arg275Gly) c.1426C>G (p.Arg476Gly) c.3C>G c.880C>G (p.Arg294Gly) c.841C>G (p.Arg281Gly) c.1144C>G (p.Arg382Gly) c.991C>G (p.Arg331Gly) | |
| 8 | g.143728638G= | CA1825940891 | FAM83H | c.823C= (p.Arg275=) c.1426C= (p.Arg476=) c.3C= c.880C= (p.Arg294=) c.841C= (p.Arg281=) c.1144C= (p.Arg382=) c.991C= (p.Arg331=) | |
| 8 | g.143728638G>T | CA372469414 | FAM83H | c.823C>A (p.Arg275Ser) c.1426C>A (p.Arg476Ser) c.3C>A c.880C>A (p.Arg294Ser) c.841C>A (p.Arg281Ser) c.1144C>A (p.Arg382Ser) c.991C>A (p.Arg331Ser) | gnomAD v4 |
| 8 | g.143728639G>A | CA187605683 | FAM83H | c.822C>T (p.Phe274=) c.1425C>T (p.Phe475=) c.2C>T c.879C>T (p.Phe293=) c.840C>T (p.Phe280=) c.1143C>T (p.Phe381=) c.990C>T (p.Phe330=) | dbSNP gnomAD v4 |
| 8 | g.143728639G>C | CA372469415 | FAM83H | c.822C>G (p.Phe274Leu) c.1425C>G (p.Phe475Leu) c.2C>G c.879C>G (p.Phe293Leu) c.840C>G (p.Phe280Leu) c.1143C>G (p.Phe381Leu) c.990C>G (p.Phe330Leu) | gnomAD v4 |
| 8 | g.143728639G= | CA1825940892 | FAM83H | c.822C= (p.Phe274=) c.1425C= (p.Phe475=) c.2C= c.879C= (p.Phe293=) c.840C= (p.Phe280=) c.1143C= (p.Phe381=) c.990C= (p.Phe330=) | |
| 8 | g.143728639G>T | CA372469416 | FAM83H | c.822C>A (p.Phe274Leu) c.1425C>A (p.Phe475Leu) c.2C>A c.879C>A (p.Phe293Leu) c.840C>A (p.Phe280Leu) c.1143C>A (p.Phe381Leu) c.990C>A (p.Phe330Leu) |