| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.43252744_43252767dup | CA2628100910 | TGM5 | c.854_862+15dup n.323_331+15dup c.608_616+15dup c.851_859+15dup c.605_613+15dup c.857_865+15dup n.1028_1036+15dup | gnomAD v4 |
| 15 | g.43252758C>A | CA7521185 | TGM5 | c.862+1G>T (n.862+1G>T) n.331+1G>T c.616+1G>T (n.616+1G>T) c.859+1G>T (n.859+1G>T) c.613+1G>T (n.613+1G>T) c.865+1G>T (n.865+1G>T) n.1036+1G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43252758C= | CA2173102597 | TGM5 | c.862+1G= (n.862+1G=) n.331+1G= c.616+1G= (n.616+1G=) c.859+1G= (n.859+1G=) c.613+1G= (n.613+1G=) c.865+1G= (n.865+1G=) n.1036+1G= | |
| 15 | g.43252758C>G | CA392098791 | TGM5 | c.862+1G>C (n.862+1G>C) n.331+1G>C c.616+1G>C (n.616+1G>C) c.859+1G>C (n.859+1G>C) c.613+1G>C (n.613+1G>C) c.865+1G>C (n.865+1G>C) n.1036+1G>C | |
| 15 | g.43252758C>T | CA392098793 | TGM5 | c.862+1G>A (n.862+1G>A) n.331+1G>A c.616+1G>A (n.616+1G>A) c.859+1G>A (n.859+1G>A) c.613+1G>A (n.613+1G>A) c.865+1G>A (n.865+1G>A) n.1036+1G>A | |
| 15 | g.43252759C>A | CA392098796 | TGM5 | c.862G>T (p.Val288Leu) n.331G>T c.616G>T (p.Val206Leu) c.859G>T (p.Val287Leu) c.613G>T (p.Val205Leu) c.865G>T (p.Val289Leu) n.1036G>T | |
| 15 | g.43252759C= | CA2173102598 | TGM5 | c.862G= (p.Val288=) n.331G= c.616G= (p.Val206=) c.859G= (p.Val287=) c.613G= (p.Val205=) c.865G= (p.Val289=) n.1036G= | |
| 15 | g.43252759C>G | CA392098798 | TGM5 | c.862G>C (p.Val288Leu) n.331G>C c.616G>C (p.Val206Leu) c.859G>C (p.Val287Leu) c.613G>C (p.Val205Leu) c.865G>C (p.Val289Leu) n.1036G>C | gnomAD v4 |
| 15 | g.43252759C>T | CA392098799 | TGM5 | c.862G>A (p.Val288Met) n.331G>A c.616G>A (p.Val206Met) c.859G>A (p.Val287Met) c.613G>A (p.Val205Met) c.865G>A (p.Val289Met) n.1036G>A | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43252760T>A | CA490131432 | TGM5 | c.861A>T (p.Thr287=) n.330A>T c.615A>T (p.Thr205=) c.858A>T (p.Thr286=) c.612A>T (p.Thr204=) c.864A>T (p.Thr288=) n.1035A>T | |
| 15 | g.43252760T>C | CA7521186 | TGM5 | c.861A>G (p.Thr287=) n.330A>G c.615A>G (p.Thr205=) c.858A>G (p.Thr286=) c.612A>G (p.Thr204=) c.864A>G (p.Thr288=) n.1035A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43252760T>G | CA490131433 | TGM5 | c.861A>C (p.Thr287=) n.330A>C c.615A>C (p.Thr205=) c.858A>C (p.Thr286=) c.612A>C (p.Thr204=) c.864A>C (p.Thr288=) n.1035A>C | |
| 15 | g.43252760T= | CA2173102599 | TGM5 | c.861A= (p.Thr287=) n.330A= c.615A= (p.Thr205=) c.858A= (p.Thr286=) c.612A= (p.Thr204=) c.864A= (p.Thr288=) n.1035A= | |
| 15 | g.43252761G>A | CA392098802 | TGM5 | c.860C>T (p.Thr287Ile) n.329C>T c.614C>T (p.Thr205Ile) c.857C>T (p.Thr286Ile) c.611C>T (p.Thr204Ile) c.863C>T (p.Thr288Ile) n.1034C>T | |
| 15 | g.43252761G>C | CA392098804 | TGM5 | c.860C>G (p.Thr287Arg) n.329C>G c.614C>G (p.Thr205Arg) c.857C>G (p.Thr286Arg) c.611C>G (p.Thr204Arg) c.863C>G (p.Thr288Arg) n.1034C>G | |
| 15 | g.43252761G>T | CA392098806 | TGM5 | c.860C>A (p.Thr287Lys) n.329C>A c.614C>A (p.Thr205Lys) c.857C>A (p.Thr286Lys) c.611C>A (p.Thr204Lys) c.863C>A (p.Thr288Lys) n.1034C>A | |
| 15 | g.43252762T>A | CA392098809 | TGM5 | c.859A>T (p.Thr287Ser) n.328A>T c.613A>T (p.Thr205Ser) c.856A>T (p.Thr286Ser) c.610A>T (p.Thr204Ser) c.862A>T (p.Thr288Ser) n.1033A>T | |
| 15 | g.43252762T>C | CA392098811 | TGM5 | c.859A>G (p.Thr287Ala) n.328A>G c.613A>G (p.Thr205Ala) c.856A>G (p.Thr286Ala) c.610A>G (p.Thr204Ala) c.862A>G (p.Thr288Ala) n.1033A>G | gnomAD v4 |
| 15 | g.43252762T>G | CA392098813 | TGM5 | c.859A>C (p.Thr287Pro) n.328A>C c.613A>C (p.Thr205Pro) c.856A>C (p.Thr286Pro) c.610A>C (p.Thr204Pro) c.862A>C (p.Thr288Pro) n.1033A>C | |
| 15 | g.43252763G>A | CA490131434 | TGM5 | c.858C>T (p.Cys286=) n.327C>T c.612C>T (p.Cys204=) c.855C>T (p.Cys285=) c.609C>T (p.Cys203=) c.861C>T (p.Cys287=) n.1032C>T | gnomAD v4 |
| 15 | g.43252763G>C | CA392098818 | TGM5 | c.858C>G (p.Cys286Trp) n.327C>G c.612C>G (p.Cys204Trp) c.855C>G (p.Cys285Trp) c.609C>G (p.Cys203Trp) c.861C>G (p.Cys287Trp) n.1032C>G | |
| 15 | g.43252763G>T | CA392098816 | TGM5 | c.858C>A (p.Cys286Ter) n.327C>A c.612C>A (p.Cys204Ter) c.855C>A (p.Cys285Ter) c.609C>A (p.Cys203Ter) c.861C>A (p.Cys287Ter) n.1032C>A | |
| 15 | g.43252764C>A | CA392098821 | TGM5 | c.857G>T (p.Cys286Phe) n.326G>T c.611G>T (p.Cys204Phe) c.854G>T (p.Cys285Phe) c.608G>T (p.Cys203Phe) c.860G>T (p.Cys287Phe) n.1031G>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43252764C= | CA2173102600 | TGM5 | c.857G= (p.Cys286=) n.326G= c.611G= (p.Cys204=) c.854G= (p.Cys285=) c.608G= (p.Cys203=) c.860G= (p.Cys287=) n.1031G= | |
| 15 | g.43252764C>G | CA392098823 | TGM5 | c.857G>C (p.Cys286Ser) n.326G>C c.611G>C (p.Cys204Ser) c.854G>C (p.Cys285Ser) c.608G>C (p.Cys203Ser) c.860G>C (p.Cys287Ser) n.1031G>C | |
| 15 | g.43252764C>T | CA392098825 | TGM5 | c.857G>A (p.Cys286Tyr) n.326G>A c.611G>A (p.Cys204Tyr) c.854G>A (p.Cys285Tyr) c.608G>A (p.Cys203Tyr) c.860G>A (p.Cys287Tyr) n.1031G>A | |
| 15 | g.43252765A= | CA2173102601 | TGM5 | c.856T= (p.Cys286=) n.325T= c.610T= (p.Cys204=) c.853T= (p.Cys285=) c.607T= (p.Cys203=) c.859T= (p.Cys287=) n.1030T= | |
| 15 | g.43252765A>C | CA392098828 | TGM5 | c.856T>G (p.Cys286Gly) n.325T>G c.610T>G (p.Cys204Gly) c.853T>G (p.Cys285Gly) c.607T>G (p.Cys203Gly) c.859T>G (p.Cys287Gly) n.1030T>G | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.43252765A>G | CA392098830 | TGM5 | c.856T>C (p.Cys286Arg) n.325T>C c.610T>C (p.Cys204Arg) c.853T>C (p.Cys285Arg) c.607T>C (p.Cys203Arg) c.859T>C (p.Cys287Arg) n.1030T>C | |
| 15 | g.43252765A>T | CA392098832 | TGM5 | c.856T>A (p.Cys286Ser) n.325T>A c.610T>A (p.Cys204Ser) c.853T>A (p.Cys285Ser) c.607T>A (p.Cys203Ser) c.859T>A (p.Cys287Ser) n.1030T>A | |
| 15 | g.43252766C>A | CA392098834 | TGM5 | c.855G>T (p.Met285Ile) n.324G>T c.609G>T (p.Met203Ile) c.852G>T (p.Met284Ile) c.606G>T (p.Met202Ile) c.858G>T (p.Met286Ile) n.1029G>T | |
| 15 | g.43252766C= | CA2173102602 | TGM5 | c.855G= (p.Met285=) n.324G= c.609G= (p.Met203=) c.852G= (p.Met284=) c.606G= (p.Met202=) c.858G= (p.Met286=) n.1029G= | |
| 15 | g.43252766C>G | CA392098836 | TGM5 | c.855G>C (p.Met285Ile) n.324G>C c.609G>C (p.Met203Ile) c.852G>C (p.Met284Ile) c.606G>C (p.Met202Ile) c.858G>C (p.Met286Ile) n.1029G>C | |
| 15 | g.43252766C>T | CA7521187 | TGM5 | c.855G>A (p.Met285Ile) n.324G>A c.609G>A (p.Met203Ile) c.852G>A (p.Met284Ile) c.606G>A (p.Met202Ile) c.858G>A (p.Met286Ile) n.1029G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.43252767A= | CA2173102603 | TGM5 | c.854T= (p.Met285=) n.323T= c.608T= (p.Met203=) c.851T= (p.Met284=) c.605T= (p.Met202=) c.857T= (p.Met286=) n.1028T= | |
| 15 | g.43252767A>C | CA392098840 | TGM5 | c.854T>G (p.Met285Arg) n.323T>G c.608T>G (p.Met203Arg) c.851T>G (p.Met284Arg) c.605T>G (p.Met202Arg) c.857T>G (p.Met286Arg) n.1028T>G | |
| 15 | g.43252767A>G | CA7521188 | TGM5 | c.854T>C (p.Met285Thr) n.323T>C c.608T>C (p.Met203Thr) c.851T>C (p.Met284Thr) c.605T>C (p.Met202Thr) c.857T>C (p.Met286Thr) n.1028T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.43252767A>T | CA392098842 | TGM5 | c.854T>A (p.Met285Lys) n.323T>A c.608T>A (p.Met203Lys) c.851T>A (p.Met284Lys) c.605T>A (p.Met202Lys) c.857T>A (p.Met286Lys) n.1028T>A | |
| 15 | g.43252767_43252768del | CA2575701575 | TGM5 | c.853_854del (p.Met285ValfsTer?) n.322_323del c.607_608del (p.Met203ValfsTer?) c.850_851del (p.Met284ValfsTer?) c.604_605del (p.Met202ValfsTer?) c.856_857del (p.Met286ValfsTer?) n.1027_1028del | gnomAD v4 |
| 15 | g.43252768T>A | CA392098846 | TGM5 | c.853A>T (p.Met285Leu) n.322A>T c.607A>T (p.Met203Leu) c.850A>T (p.Met284Leu) c.604A>T (p.Met202Leu) c.856A>T (p.Met286Leu) n.1027A>T | |
| 15 | g.43252768T>C | CA392098850 | TGM5 | c.853A>G (p.Met285Val) n.322A>G c.607A>G (p.Met203Val) c.850A>G (p.Met284Val) c.604A>G (p.Met202Val) c.856A>G (p.Met286Val) n.1027A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43252768T>G | CA392098848 | TGM5 | c.853A>C (p.Met285Leu) n.322A>C c.607A>C (p.Met203Leu) c.850A>C (p.Met284Leu) c.604A>C (p.Met202Leu) c.856A>C (p.Met286Leu) n.1027A>C | |
| 15 | g.43252768T= | CA2173102604 | TGM5 | c.853A= (p.Met285=) n.322A= c.607A= (p.Met203=) c.850A= (p.Met284=) c.604A= (p.Met202=) c.856A= (p.Met286=) n.1027A= | |
| 15 | g.43252769G>A | CA490131435 | TGM5 | c.852C>T (p.Val284=) n.321C>T c.606C>T (p.Val202=) c.849C>T (p.Val283=) c.603C>T (p.Val201=) c.855C>T (p.Val285=) n.1026C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.43252769G>C | CA490131436 | TGM5 | c.852C>G (p.Val284=) n.321C>G c.606C>G (p.Val202=) c.849C>G (p.Val283=) c.603C>G (p.Val201=) c.855C>G (p.Val285=) n.1026C>G | |
| 15 | g.43252769G= | CA2173102605 | TGM5 | c.852C= (p.Val284=) n.321C= c.606C= (p.Val202=) c.849C= (p.Val283=) c.603C= (p.Val201=) c.855C= (p.Val285=) n.1026C= | |
| 15 | g.43252769G>T | CA490131437 | TGM5 | c.852C>A (p.Val284=) n.321C>A c.606C>A (p.Val202=) c.849C>A (p.Val283=) c.603C>A (p.Val201=) c.855C>A (p.Val285=) n.1026C>A | |
| 15 | g.43252770A= | CA2173102606 | TGM5 | c.851T= (p.Val284=) n.320T= c.605T= (p.Val202=) c.848T= (p.Val283=) c.602T= (p.Val201=) c.854T= (p.Val285=) n.1025T= | |
| 15 | g.43252770A>C | CA392098854 | TGM5 | c.851T>G (p.Val284Gly) n.320T>G c.605T>G (p.Val202Gly) c.848T>G (p.Val283Gly) c.602T>G (p.Val201Gly) c.854T>G (p.Val285Gly) n.1025T>G | |
| 15 | g.43252770A>G | CA392098858 | TGM5 | c.851T>C (p.Val284Ala) n.320T>C c.605T>C (p.Val202Ala) c.848T>C (p.Val283Ala) c.602T>C (p.Val201Ala) c.854T>C (p.Val285Ala) n.1025T>C | dbSNP gnomAD v2 gnomAD v4 |