Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.60975663T>A | CA389919072 | TRMT5 | c.1256A>T (p.Tyr419Phe) c.1340A>T (p.Tyr447Phe) c.1337A>T (p.Tyr446Phe) | |
14 | g.60975663T>C | CA389919073 | TRMT5 | c.1256A>G (p.Tyr419Cys) c.1340A>G (p.Tyr447Cys) c.1337A>G (p.Tyr446Cys) | |
14 | g.60975663T>G | CA389919074 | TRMT5 | c.1256A>C (p.Tyr419Ser) c.1340A>C (p.Tyr447Ser) c.1337A>C (p.Tyr446Ser) | |
14 | g.60975664A>C | CA389919075 | TRMT5 | c.1255T>G (p.Tyr419Asp) c.1339T>G (p.Tyr447Asp) c.1336T>G (p.Tyr446Asp) | |
14 | g.60975664A>G | CA389919076 | TRMT5 | c.1255T>C (p.Tyr419His) c.1339T>C (p.Tyr447His) c.1336T>C (p.Tyr446His) | |
14 | g.60975664A>T | CA389919077 | TRMT5 | c.1255T>A (p.Tyr419Asn) c.1339T>A (p.Tyr447Asn) c.1336T>A (p.Tyr446Asn) | |
14 | g.60975665A>C | CA389919078 | TRMT5 | c.1254T>G (p.Cys418Trp) c.1338T>G (p.Cys446Trp) c.1335T>G (p.Cys445Trp) | |
14 | g.60975665A>G | CA486956966 | TRMT5 | c.1254T>C (p.Cys418=) c.1338T>C (p.Cys446=) c.1335T>C (p.Cys445=) | |
14 | g.60975665A>T | CA389919079 | TRMT5 | c.1254T>A (p.Cys418Ter) c.1338T>A (p.Cys446Ter) c.1335T>A (p.Cys445Ter) | |
14 | g.60975666C>A | CA389919080 | TRMT5 | c.1253G>T (p.Cys418Phe) c.1337G>T (p.Cys446Phe) c.1334G>T (p.Cys445Phe) | |
14 | g.60975666C>G | CA389919082 | TRMT5 | c.1253G>C (p.Cys418Ser) c.1337G>C (p.Cys446Ser) c.1334G>C (p.Cys445Ser) | |
14 | g.60975666C>T | CA389919081 | TRMT5 | c.1253G>A (p.Cys418Tyr) c.1337G>A (p.Cys446Tyr) c.1334G>A (p.Cys445Tyr) | gnomAD v4 |
14 | g.60975667A>C | CA389919083 | TRMT5 | c.1252T>G (p.Cys418Gly) c.1336T>G (p.Cys446Gly) c.1333T>G (p.Cys445Gly) | |
14 | g.60975667A>G | CA389919084 | TRMT5 | c.1252T>C (p.Cys418Arg) c.1336T>C (p.Cys446Arg) c.1333T>C (p.Cys445Arg) | |
14 | g.60975667A>T | CA389919085 | TRMT5 | c.1252T>A (p.Cys418Ser) c.1336T>A (p.Cys446Ser) c.1333T>A (p.Cys445Ser) | gnomAD v4 |
14 | g.60975668A= | CA2141037393 | TRMT5 | c.1251T= (p.His417=) c.1335T= (p.His445=) c.1332T= (p.His444=) | |
14 | g.60975668A>C | CA389919086 | TRMT5 | c.1251T>G (p.His417Gln) c.1335T>G (p.His445Gln) c.1332T>G (p.His444Gln) | |
14 | g.60975668A>G | CA7213741 | TRMT5 | c.1251T>C (p.His417=) c.1335T>C (p.His445=) c.1332T>C (p.His444=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.60975668A>T | CA389919087 | TRMT5 | c.1251T>A (p.His417Gln) c.1335T>A (p.His445Gln) c.1332T>A (p.His444Gln) | |
14 | g.60975669T>A | CA389919088 | TRMT5 | c.1250A>T (p.His417Leu) c.1334A>T (p.His445Leu) c.1331A>T (p.His444Leu) | |
14 | g.60975669T>C | CA389919089 | TRMT5 | c.1250A>G (p.His417Arg) c.1334A>G (p.His445Arg) c.1331A>G (p.His444Arg) | gnomAD v4 |
14 | g.60975669T>G | CA389919090 | TRMT5 | c.1250A>C (p.His417Pro) c.1334A>C (p.His445Pro) c.1331A>C (p.His444Pro) | |
14 | g.60975670G>A | CA389919091 | TRMT5 | c.1249C>T (p.His417Tyr) c.1333C>T (p.His445Tyr) c.1330C>T (p.His444Tyr) | |
14 | g.60975670G>C | CA389919092 | TRMT5 | c.1249C>G (p.His417Asp) c.1333C>G (p.His445Asp) c.1330C>G (p.His444Asp) | |
14 | g.60975670G>T | CA389919093 | TRMT5 | c.1249C>A (p.His417Asn) c.1333C>A (p.His445Asn) c.1330C>A (p.His444Asn) | |
14 | g.60975671C>A | CA486956978 | TRMT5 | c.1248G>T (p.Val416=) c.1332G>T (p.Val444=) c.1329G>T (p.Val443=) | |
14 | g.60975671C>G | CA486956979 | TRMT5 | c.1248G>C (p.Val416=) c.1332G>C (p.Val444=) c.1329G>C (p.Val443=) | |
14 | g.60975671C>T | CA486956980 | TRMT5 | c.1248G>A (p.Val416=) c.1332G>A (p.Val444=) c.1329G>A (p.Val443=) | gnomAD v4 |
14 | g.60975672A= | CA2141037401 | TRMT5 | c.1247T= (p.Val416=) c.1331T= (p.Val444=) c.1328T= (p.Val443=) | |
14 | g.60975672A>C | CA389919094 | TRMT5 | c.1247T>G (p.Val416Gly) c.1331T>G (p.Val444Gly) c.1328T>G (p.Val443Gly) | |
14 | g.60975672A>G | CA7213742 | TRMT5 | c.1247T>C (p.Val416Ala) c.1331T>C (p.Val444Ala) c.1328T>C (p.Val443Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.60975672A>T | CA389919095 | TRMT5 | c.1247T>A (p.Val416Glu) c.1331T>A (p.Val444Glu) c.1328T>A (p.Val443Glu) | gnomAD v4 |
14 | g.60975673C>A | CA389919096 | TRMT5 | c.1246G>T (p.Val416Leu) c.1330G>T (p.Val444Leu) c.1327G>T (p.Val443Leu) | gnomAD v4 |
14 | g.60975673C>G | CA389919097 | TRMT5 | c.1246G>C (p.Val416Leu) c.1330G>C (p.Val444Leu) c.1327G>C (p.Val443Leu) | |
14 | g.60975673C>T | CA389919098 | TRMT5 | c.1246G>A (p.Val416Met) c.1330G>A (p.Val444Met) c.1327G>A (p.Val443Met) | |
14 | g.60975674T>A | CA486956985 | TRMT5 | c.1245A>T (p.Ile415=) c.1329A>T (p.Ile443=) c.1326A>T (p.Ile442=) | |
14 | g.60975674T>C | CA389919099 | TRMT5 | c.1245A>G (p.Ile415Met) c.1329A>G (p.Ile443Met) c.1326A>G (p.Ile442Met) | |
14 | g.60975674T>G | CA486956988 | TRMT5 | c.1245A>C (p.Ile415=) c.1329A>C (p.Ile443=) c.1326A>C (p.Ile442=) | |
14 | g.60975675A= | CA2141037404 | TRMT5 | c.1244T= (p.Ile415=) c.1328T= (p.Ile443=) c.1325T= (p.Ile442=) | |
14 | g.60975675A>C | CA389919100 | TRMT5 | c.1244T>G (p.Ile415Arg) c.1328T>G (p.Ile443Arg) c.1325T>G (p.Ile442Arg) | |
14 | g.60975675A>G | CA389919101 | TRMT5 | c.1244T>C (p.Ile415Thr) c.1328T>C (p.Ile443Thr) c.1325T>C (p.Ile442Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.60975675A>T | CA389919102 | TRMT5 | c.1244T>A (p.Ile415Lys) c.1328T>A (p.Ile443Lys) c.1325T>A (p.Ile442Lys) | |
14 | g.60975676T>A | CA389919103 | TRMT5 | c.1243A>T (p.Ile415Leu) c.1327A>T (p.Ile443Leu) c.1324A>T (p.Ile442Leu) | |
14 | g.60975676T>C | CA7213743 | TRMT5 | c.1243A>G (p.Ile415Val) c.1327A>G (p.Ile443Val) c.1324A>G (p.Ile442Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.60975676T>G | CA7213744 | TRMT5 | c.1243A>C (p.Ile415Leu) c.1327A>C (p.Ile443Leu) c.1324A>C (p.Ile442Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.60975676T= | CA2141037409 | TRMT5 | c.1243A= (p.Ile415=) c.1327A= (p.Ile443=) c.1324A= (p.Ile442=) | |
14 | g.60975677G>A | CA486956995 | TRMT5 | c.1242C>T (p.Pro414=) c.1326C>T (p.Pro442=) c.1323C>T (p.Pro441=) | |
14 | g.60975677G>C | CA486956992 | TRMT5 | c.1242C>G (p.Pro414=) c.1326C>G (p.Pro442=) c.1323C>G (p.Pro441=) | |
14 | g.60975677G>T | CA486956990 | TRMT5 | c.1242C>A (p.Pro414=) c.1326C>A (p.Pro442=) c.1323C>A (p.Pro441=) | |
14 | g.60975678G>A | CA389919104 | TRMT5 | c.1241C>T (p.Pro414Leu) c.1325C>T (p.Pro442Leu) c.1322C>T (p.Pro441Leu) | gnomAD v4 |