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.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 |
15 | g.43252770A>T | CA392098855 | TGM5 | c.851T>A (p.Val284Asp) n.320T>A c.605T>A (p.Val202Asp) c.848T>A (p.Val283Asp) c.602T>A (p.Val201Asp) c.854T>A (p.Val285Asp) n.1025T>A | |
15 | g.43252771C>A | CA392098861 | TGM5 | c.850G>T (p.Val284Phe) n.319G>T c.604G>T (p.Val202Phe) c.847G>T (p.Val283Phe) c.601G>T (p.Val201Phe) c.853G>T (p.Val285Phe) n.1024G>T | |
15 | g.43252771C= | CA2173102607 | TGM5 | c.850G= (p.Val284=) n.319G= c.604G= (p.Val202=) c.847G= (p.Val283=) c.601G= (p.Val201=) c.853G= (p.Val285=) n.1024G= | |
15 | g.43252771C>G | CA392098863 | TGM5 | c.850G>C (p.Val284Leu) n.319G>C c.604G>C (p.Val202Leu) c.847G>C (p.Val283Leu) c.601G>C (p.Val201Leu) c.853G>C (p.Val285Leu) n.1024G>C | gnomAD v4 |
15 | g.43252771C>T | CA7521189 | TGM5 | c.850G>A (p.Val284Ile) n.319G>A c.604G>A (p.Val202Ile) c.847G>A (p.Val283Ile) c.601G>A (p.Val201Ile) c.853G>A (p.Val285Ile) n.1024G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.43252772G>A | CA7521190 | TGM5 | c.849C>T (p.Ala283=) n.318C>T c.603C>T (p.Ala201=) c.846C>T (p.Ala282=) c.600C>T (p.Ala200=) c.852C>T (p.Ala284=) n.1023C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43252772G>C | CA490131438 | TGM5 | c.849C>G (p.Ala283=) n.318C>G c.603C>G (p.Ala201=) c.846C>G (p.Ala282=) c.600C>G (p.Ala200=) c.852C>G (p.Ala284=) n.1023C>G | |
15 | g.43252772G= | CA2173102608 | TGM5 | c.849C= (p.Ala283=) n.318C= c.603C= (p.Ala201=) c.846C= (p.Ala282=) c.600C= (p.Ala200=) c.852C= (p.Ala284=) n.1023C= | |
15 | g.43252772G>T | CA490131439 | TGM5 | c.849C>A (p.Ala283=) n.318C>A c.603C>A (p.Ala201=) c.846C>A (p.Ala282=) c.600C>A (p.Ala200=) c.852C>A (p.Ala284=) n.1023C>A | gnomAD v4 |
15 | g.43252773G>A | CA392098869 | TGM5 | c.848C>T (p.Ala283Val) n.317C>T c.602C>T (p.Ala201Val) c.845C>T (p.Ala282Val) c.599C>T (p.Ala200Val) c.851C>T (p.Ala284Val) n.1022C>T | gnomAD v4 |
15 | g.43252773G>C | CA392098871 | TGM5 | c.848C>G (p.Ala283Gly) n.317C>G c.602C>G (p.Ala201Gly) c.845C>G (p.Ala282Gly) c.599C>G (p.Ala200Gly) c.851C>G (p.Ala284Gly) n.1022C>G | |
15 | g.43252773G>T | CA392098873 | TGM5 | c.848C>A (p.Ala283Asp) n.317C>A c.602C>A (p.Ala201Asp) c.845C>A (p.Ala282Asp) c.599C>A (p.Ala200Asp) c.851C>A (p.Ala284Asp) n.1022C>A | |
15 | g.43252774C>A | CA392098877 | TGM5 | c.847G>T (p.Ala283Ser) n.316G>T c.601G>T (p.Ala201Ser) c.844G>T (p.Ala282Ser) c.598G>T (p.Ala200Ser) c.850G>T (p.Ala284Ser) n.1021G>T | |
15 | g.43252774C>G | CA392098879 | TGM5 | c.847G>C (p.Ala283Pro) n.316G>C c.601G>C (p.Ala201Pro) c.844G>C (p.Ala282Pro) c.598G>C (p.Ala200Pro) c.850G>C (p.Ala284Pro) n.1021G>C | gnomAD v4 |
15 | g.43252774C>T | CA392098881 | TGM5 | c.847G>A (p.Ala283Thr) n.316G>A c.601G>A (p.Ala201Thr) c.844G>A (p.Ala282Thr) c.598G>A (p.Ala200Thr) c.850G>A (p.Ala284Thr) n.1021G>A | |
15 | g.43252775A>C | CA490131440 | TGM5 | c.846T>G (p.Ala282=) n.315T>G c.600T>G (p.Ala200=) c.843T>G (p.Ala281=) c.597T>G (p.Ala199=) c.849T>G (p.Ala283=) n.1020T>G | |
15 | g.43252775A>G | CA490131441 | TGM5 | c.846T>C (p.Ala282=) n.315T>C c.600T>C (p.Ala200=) c.843T>C (p.Ala281=) c.597T>C (p.Ala199=) c.849T>C (p.Ala283=) n.1020T>C | |
15 | g.43252775A>T | CA490131442 | TGM5 | c.846T>A (p.Ala282=) n.315T>A c.600T>A (p.Ala200=) c.843T>A (p.Ala281=) c.597T>A (p.Ala199=) c.849T>A (p.Ala283=) n.1020T>A | |
15 | g.43252776G>A | CA392098883 | TGM5 | c.845C>T (p.Ala282Val) n.314C>T c.599C>T (p.Ala200Val) c.842C>T (p.Ala281Val) c.596C>T (p.Ala199Val) c.848C>T (p.Ala283Val) n.1019C>T | COSMIC |
15 | g.43252776G>C | CA392098885 | TGM5 | c.845C>G (p.Ala282Gly) n.314C>G c.599C>G (p.Ala200Gly) c.842C>G (p.Ala281Gly) c.596C>G (p.Ala199Gly) c.848C>G (p.Ala283Gly) n.1019C>G | |
15 | g.43252776G>T | CA392098887 | TGM5 | c.845C>A (p.Ala282Asp) n.314C>A c.599C>A (p.Ala200Asp) c.842C>A (p.Ala281Asp) c.596C>A (p.Ala199Asp) c.848C>A (p.Ala283Asp) n.1019C>A | |
15 | g.43252777C>A | CA392098891 | TGM5 | c.844G>T (p.Ala282Ser) n.313G>T c.598G>T (p.Ala200Ser) c.841G>T (p.Ala281Ser) c.595G>T (p.Ala199Ser) c.847G>T (p.Ala283Ser) n.1018G>T | |
15 | g.43252777C>G | CA392098895 | TGM5 | c.844G>C (p.Ala282Pro) n.313G>C c.598G>C (p.Ala200Pro) c.841G>C (p.Ala281Pro) c.595G>C (p.Ala199Pro) c.847G>C (p.Ala283Pro) n.1018G>C | |
15 | g.43252777C>T | CA392098893 | TGM5 | c.844G>A (p.Ala282Thr) n.313G>A c.598G>A (p.Ala200Thr) c.841G>A (p.Ala281Thr) c.595G>A (p.Ala199Thr) c.847G>A (p.Ala283Thr) n.1018G>A | |
15 | g.43252778A= | CA2173102609 | TGM5 | c.843T= (p.Phe281=) n.312T= c.597T= (p.Phe199=) c.840T= (p.Phe280=) c.594T= (p.Phe198=) c.846T= (p.Phe282=) n.1017T= | |
15 | g.43252778A>C | CA392098898 | TGM5 | c.843T>G (p.Phe281Leu) n.312T>G c.597T>G (p.Phe199Leu) c.840T>G (p.Phe280Leu) c.594T>G (p.Phe198Leu) c.846T>G (p.Phe282Leu) n.1017T>G | |
15 | g.43252778A>G | CA7521191 | TGM5 | c.843T>C (p.Phe281=) n.312T>C c.597T>C (p.Phe199=) c.840T>C (p.Phe280=) c.594T>C (p.Phe198=) c.846T>C (p.Phe282=) n.1017T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43252778A>T | CA392098901 | TGM5 | c.843T>A (p.Phe281Leu) n.312T>A c.597T>A (p.Phe199Leu) c.840T>A (p.Phe280Leu) c.594T>A (p.Phe198Leu) c.846T>A (p.Phe282Leu) n.1017T>A | |
15 | g.43252779A>C | CA392098903 | TGM5 | c.842T>G (p.Phe281Cys) n.311T>G c.596T>G (p.Phe199Cys) c.839T>G (p.Phe280Cys) c.593T>G (p.Phe198Cys) c.845T>G (p.Phe282Cys) n.1016T>G | |
15 | g.43252779A>G | CA392098906 | TGM5 | c.842T>C (p.Phe281Ser) n.311T>C c.596T>C (p.Phe199Ser) c.839T>C (p.Phe280Ser) c.593T>C (p.Phe198Ser) c.845T>C (p.Phe282Ser) n.1016T>C | |
15 | g.43252779A>T | CA392098909 | TGM5 | c.842T>A (p.Phe281Tyr) n.311T>A c.596T>A (p.Phe199Tyr) c.839T>A (p.Phe280Tyr) c.593T>A (p.Phe198Tyr) c.845T>A (p.Phe282Tyr) n.1016T>A | |
15 | g.43252780A>C | CA392098912 | TGM5 | c.841T>G (p.Phe281Val) n.310T>G c.595T>G (p.Phe199Val) c.838T>G (p.Phe280Val) c.592T>G (p.Phe198Val) c.844T>G (p.Phe282Val) n.1015T>G | |
15 | g.43252780A>G | CA392098914 | TGM5 | c.841T>C (p.Phe281Leu) n.310T>C c.595T>C (p.Phe199Leu) c.838T>C (p.Phe280Leu) c.592T>C (p.Phe198Leu) c.844T>C (p.Phe282Leu) n.1015T>C | |
15 | g.43252780A>T | CA392098917 | TGM5 | c.841T>A (p.Phe281Ile) n.310T>A c.595T>A (p.Phe199Ile) c.838T>A (p.Phe280Ile) c.592T>A (p.Phe198Ile) c.844T>A (p.Phe282Ile) n.1015T>A | |
15 | g.43252781G>A | CA490131445 | TGM5 | c.840C>T (p.Val280=) n.309C>T c.594C>T (p.Val198=) c.837C>T (p.Val279=) c.591C>T (p.Val197=) c.843C>T (p.Val281=) n.1014C>T | |
15 | g.43252781G>C | CA490131444 | TGM5 | c.840C>G (p.Val280=) n.309C>G c.594C>G (p.Val198=) c.837C>G (p.Val279=) c.591C>G (p.Val197=) c.843C>G (p.Val281=) n.1014C>G | dbSNP gnomAD v2 gnomAD v4 |
15 | g.43252781G= | CA2173102610 | TGM5 | c.840C= (p.Val280=) n.309C= c.594C= (p.Val198=) c.837C= (p.Val279=) c.591C= (p.Val197=) c.843C= (p.Val281=) n.1014C= | |
15 | g.43252781G>T | CA490131443 | TGM5 | c.840C>A (p.Val280=) n.309C>A c.594C>A (p.Val198=) c.837C>A (p.Val279=) c.591C>A (p.Val197=) c.843C>A (p.Val281=) n.1014C>A | |
15 | g.43252782A>C | CA392098925 | TGM5 | c.839T>G (p.Val280Gly) n.308T>G c.593T>G (p.Val198Gly) c.836T>G (p.Val279Gly) c.590T>G (p.Val197Gly) c.842T>G (p.Val281Gly) n.1013T>G | |
15 | g.43252782A>G | CA392098923 | TGM5 | c.839T>C (p.Val280Ala) n.308T>C c.593T>C (p.Val198Ala) c.836T>C (p.Val279Ala) c.590T>C (p.Val197Ala) c.842T>C (p.Val281Ala) n.1013T>C | |
15 | g.43252782A>T | CA392098920 | TGM5 | c.839T>A (p.Val280Asp) n.308T>A c.593T>A (p.Val198Asp) c.836T>A (p.Val279Asp) c.590T>A (p.Val197Asp) c.842T>A (p.Val281Asp) n.1013T>A | |
15 | g.43252783C>A | CA392098927 | TGM5 | c.838G>T (p.Val280Phe) n.307G>T c.592G>T (p.Val198Phe) c.835G>T (p.Val279Phe) c.589G>T (p.Val197Phe) c.841G>T (p.Val281Phe) n.1012G>T | |
15 | g.43252783C>G | CA392098930 | TGM5 | c.838G>C (p.Val280Leu) n.307G>C c.592G>C (p.Val198Leu) c.835G>C (p.Val279Leu) c.589G>C (p.Val197Leu) c.841G>C (p.Val281Leu) n.1012G>C | |
15 | g.43252783C>T | CA392098932 | TGM5 | c.838G>A (p.Val280Ile) n.307G>A c.592G>A (p.Val198Ile) c.835G>A (p.Val279Ile) c.589G>A (p.Val197Ile) c.841G>A (p.Val281Ile) n.1012G>A | gnomAD v4 COSMIC |
15 | g.43252785dup | CA2838295630 | TGM5 | c.838dup (p.Val280GlyfsTer?) n.307dup c.592dup (p.Val198GlyfsTer?) c.835dup (p.Val279GlyfsTer?) c.589dup (p.Val197GlyfsTer?) c.841dup (p.Val281GlyfsTer?) n.1012dup | |
15 | g.43252784C>A | CA392098934 | TGM5 | c.837G>T (p.Trp279Cys) n.306G>T c.591G>T (p.Trp197Cys) c.834G>T (p.Trp278Cys) c.588G>T (p.Trp196Cys) c.840G>T (p.Trp280Cys) n.1011G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43252784C= | CA2173102611 | TGM5 | c.837G= (p.Trp279=) n.306G= c.591G= (p.Trp197=) c.834G= (p.Trp278=) c.588G= (p.Trp196=) c.840G= (p.Trp280=) n.1011G= | |
15 | g.43252784C>G | CA392098936 | TGM5 | c.837G>C (p.Trp279Cys) n.306G>C c.591G>C (p.Trp197Cys) c.834G>C (p.Trp278Cys) c.588G>C (p.Trp196Cys) c.840G>C (p.Trp280Cys) n.1011G>C | |
15 | g.43252784C>T | CA392098939 | TGM5 | c.837G>A (p.Trp279Ter) n.306G>A c.591G>A (p.Trp197Ter) c.834G>A (p.Trp278Ter) c.588G>A (p.Trp196Ter) c.840G>A (p.Trp280Ter) n.1011G>A | |
15 | g.43252785C>A | CA392098942 | TGM5 | c.836G>T (p.Trp279Leu) n.305G>T c.590G>T (p.Trp197Leu) c.833G>T (p.Trp278Leu) c.587G>T (p.Trp196Leu) c.839G>T (p.Trp280Leu) n.1010G>T | |
15 | g.43252785C>G | CA392098944 | TGM5 | c.836G>C (p.Trp279Ser) n.305G>C c.590G>C (p.Trp197Ser) c.833G>C (p.Trp278Ser) c.587G>C (p.Trp196Ser) c.839G>C (p.Trp280Ser) n.1010G>C | |
15 | g.43252785C>T | CA392098947 | TGM5 | c.836G>A (p.Trp279Ter) n.305G>A c.590G>A (p.Trp197Ter) c.833G>A (p.Trp278Ter) c.587G>A (p.Trp196Ter) c.839G>A (p.Trp280Ter) n.1010G>A | |
15 | g.43252786A= | CA2173102612 | TGM5 | c.835T= (p.Trp279=) n.304T= c.589T= (p.Trp197=) c.832T= (p.Trp278=) c.586T= (p.Trp196=) c.838T= (p.Trp280=) n.1009T= | |
15 | g.43252786A>C | CA392098950 | TGM5 | c.835T>G (p.Trp279Gly) n.304T>G c.589T>G (p.Trp197Gly) c.832T>G (p.Trp278Gly) c.586T>G (p.Trp196Gly) c.838T>G (p.Trp280Gly) n.1009T>G | |
15 | g.43252786A>G | CA7521192 | TGM5 | c.835T>C (p.Trp279Arg) n.304T>C c.589T>C (p.Trp197Arg) c.832T>C (p.Trp278Arg) c.586T>C (p.Trp196Arg) c.838T>C (p.Trp280Arg) n.1009T>C | dbSNP ExAC gnomAD v2 |
15 | g.43252786A>T | CA392098953 | TGM5 | c.835T>A (p.Trp279Arg) n.304T>A c.589T>A (p.Trp197Arg) c.832T>A (p.Trp278Arg) c.586T>A (p.Trp196Arg) c.838T>A (p.Trp280Arg) n.1009T>A | |
15 | g.43252787G>A | CA490131446 | TGM5 | c.834C>T (p.Cys278=) n.303C>T c.588C>T (p.Cys196=) c.831C>T (p.Cys277=) c.585C>T (p.Cys195=) c.837C>T (p.Cys279=) n.1008C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.43252787G>C | CA392098959 | TGM5 | c.834C>G (p.Cys278Trp) n.303C>G c.588C>G (p.Cys196Trp) c.831C>G (p.Cys277Trp) c.585C>G (p.Cys195Trp) c.837C>G (p.Cys279Trp) n.1008C>G | |
15 | g.43252787G= | CA2173102614 | TGM5 | c.834C= (p.Cys278=) n.303C= c.588C= (p.Cys196=) c.831C= (p.Cys277=) c.585C= (p.Cys195=) c.837C= (p.Cys279=) n.1008C= | |
15 | g.43252787G>T | CA392098956 | TGM5 | c.834C>A (p.Cys278Ter) n.303C>A c.588C>A (p.Cys196Ter) c.831C>A (p.Cys277Ter) c.585C>A (p.Cys195Ter) c.837C>A (p.Cys279Ter) n.1008C>A | |
15 | g.43252787_43252788delinsGC | CA2173102613 | TGM5 | c.833_834delinsGC (p.Cys278=) n.302_303delinsGC c.587_588delinsGC (p.Cys196=) c.830_831delinsGC (p.Cys277=) c.584_585delinsGC (p.Cys195=) c.836_837delinsGC (p.Cys279=) n.1007_1008delinsGC | |
15 | g.43252788del | CA7521193 | TGM5 | c.833del (p.Cys278SerfsTer11) n.302del c.587del (p.Cys196SerfsTer11) c.830del (p.Cys277SerfsTer11) c.584del (p.Cys195SerfsTer11) c.836del (p.Cys279SerfsTer11) n.1007del | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.43252788C>A | CA392098961 | TGM5 | c.833G>T (p.Cys278Phe) n.302G>T c.587G>T (p.Cys196Phe) c.830G>T (p.Cys277Phe) c.584G>T (p.Cys195Phe) c.836G>T (p.Cys279Phe) n.1007G>T | |
15 | g.43252788C>G | CA392098964 | TGM5 | c.833G>C (p.Cys278Ser) n.302G>C c.587G>C (p.Cys196Ser) c.830G>C (p.Cys277Ser) c.584G>C (p.Cys195Ser) c.836G>C (p.Cys279Ser) n.1007G>C | |
15 | g.43252788C>T | CA392098966 | TGM5 | c.833G>A (p.Cys278Tyr) n.302G>A c.587G>A (p.Cys196Tyr) c.830G>A (p.Cys277Tyr) c.584G>A (p.Cys195Tyr) c.836G>A (p.Cys279Tyr) n.1007G>A | |
15 | g.43252789A>C | CA392098971 | TGM5 | c.832T>G (p.Cys278Gly) n.301T>G c.586T>G (p.Cys196Gly) c.829T>G (p.Cys277Gly) c.583T>G (p.Cys195Gly) c.835T>G (p.Cys279Gly) n.1006T>G | |
15 | g.43252789A>G | CA392098973 | TGM5 | c.832T>C (p.Cys278Arg) n.301T>C c.586T>C (p.Cys196Arg) c.829T>C (p.Cys277Arg) c.583T>C (p.Cys195Arg) c.835T>C (p.Cys279Arg) n.1006T>C | |
15 | g.43252789A>T | CA392098975 | TGM5 | c.832T>A (p.Cys278Ser) n.301T>A c.586T>A (p.Cys196Ser) c.829T>A (p.Cys277Ser) c.583T>A (p.Cys195Ser) c.835T>A (p.Cys279Ser) n.1006T>A | |
15 | g.43252790T>A | CA392098978 | TGM5 | c.831A>T (p.Gln277His) n.300A>T c.585A>T (p.Gln195His) c.828A>T (p.Gln276His) c.582A>T (p.Gln194His) c.834A>T (p.Gln278His) n.1005A>T | gnomAD v4 |
15 | g.43252790T>C | CA490131447 | TGM5 | c.831A>G (p.Gln277=) n.300A>G c.585A>G (p.Gln195=) c.828A>G (p.Gln276=) c.582A>G (p.Gln194=) c.834A>G (p.Gln278=) n.1005A>G | gnomAD v4 |
15 | g.43252790T>G | CA392098980 | TGM5 | c.831A>C (p.Gln277His) n.300A>C c.585A>C (p.Gln195His) c.828A>C (p.Gln276His) c.582A>C (p.Gln194His) c.834A>C (p.Gln278His) n.1005A>C | |
15 | g.43252791T>A | CA392098984 | TGM5 | c.830A>T (p.Gln277Leu) n.299A>T c.584A>T (p.Gln195Leu) c.827A>T (p.Gln276Leu) c.581A>T (p.Gln194Leu) c.833A>T (p.Gln278Leu) n.1004A>T | |
15 | g.43252791T>C | CA392098986 | TGM5 | c.830A>G (p.Gln277Arg) n.299A>G c.584A>G (p.Gln195Arg) c.827A>G (p.Gln276Arg) c.581A>G (p.Gln194Arg) c.833A>G (p.Gln278Arg) n.1004A>G | |
15 | g.43252791T>G | CA392098988 | TGM5 | c.830A>C (p.Gln277Pro) n.299A>C c.584A>C (p.Gln195Pro) c.827A>C (p.Gln276Pro) c.581A>C (p.Gln194Pro) c.833A>C (p.Gln278Pro) n.1004A>C | |
15 | g.43252792G>A | CA269975213 | TGM5 | c.829C>T (p.Gln277Ter) n.298C>T c.583C>T (p.Gln195Ter) c.826C>T (p.Gln276Ter) c.580C>T (p.Gln194Ter) c.832C>T (p.Gln278Ter) n.1003C>T | ClinVar dbSNP gnomAD v4 |
15 | g.43252792G>C | CA392098992 | TGM5 | c.829C>G (p.Gln277Glu) n.298C>G c.583C>G (p.Gln195Glu) c.826C>G (p.Gln276Glu) c.580C>G (p.Gln194Glu) c.832C>G (p.Gln278Glu) n.1003C>G | |
15 | g.43252792G= | CA2173102615 | TGM5 | c.829C= (p.Gln277=) n.298C= c.583C= (p.Gln195=) c.826C= (p.Gln276=) c.580C= (p.Gln194=) c.832C= (p.Gln278=) n.1003C= | |
15 | g.43252792G>T | CA392098989 | TGM5 | c.829C>A (p.Gln277Lys) n.298C>A c.583C>A (p.Gln195Lys) c.826C>A (p.Gln276Lys) c.580C>A (p.Gln194Lys) c.832C>A (p.Gln278Lys) n.1003C>A | dbSNP |
15 | g.43252793C>A | CA490131448 | TGM5 | c.828G>T (p.Gly276=) n.297G>T c.582G>T (p.Gly194=) c.825G>T (p.Gly275=) c.579G>T (p.Gly193=) c.831G>T (p.Gly277=) n.1002G>T | gnomAD v4 |
15 | g.43252793C= | CA2173102616 | TGM5 | c.828G= (p.Gly276=) n.297G= c.582G= (p.Gly194=) c.825G= (p.Gly275=) c.579G= (p.Gly193=) c.831G= (p.Gly277=) n.1002G= | |
15 | g.43252793C>G | CA490131449 | TGM5 | c.828G>C (p.Gly276=) n.297G>C c.582G>C (p.Gly194=) c.825G>C (p.Gly275=) c.579G>C (p.Gly193=) c.831G>C (p.Gly277=) n.1002G>C | |
15 | g.43252793C>T | CA490131450 | TGM5 | c.828G>A (p.Gly276=) n.297G>A c.582G>A (p.Gly194=) c.825G>A (p.Gly275=) c.579G>A (p.Gly193=) c.831G>A (p.Gly277=) n.1002G>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.43252794C>A | CA392098997 | TGM5 | c.827G>T (p.Gly276Val) n.296G>T c.581G>T (p.Gly194Val) c.824G>T (p.Gly275Val) c.578G>T (p.Gly193Val) c.830G>T (p.Gly277Val) n.1001G>T | |
15 | g.43252794C>G | CA392099002 | TGM5 | c.827G>C (p.Gly276Ala) n.296G>C c.581G>C (p.Gly194Ala) c.824G>C (p.Gly275Ala) c.578G>C (p.Gly193Ala) c.830G>C (p.Gly277Ala) n.1001G>C | |
15 | g.43252794C>T | CA392099000 | TGM5 | c.827G>A (p.Gly276Glu) n.296G>A c.581G>A (p.Gly194Glu) c.824G>A (p.Gly275Glu) c.578G>A (p.Gly193Glu) c.830G>A (p.Gly277Glu) n.1001G>A | |
15 | g.43252795C>A | CA392099005 | TGM5 | c.826G>T (p.Gly276Trp) n.295G>T c.580G>T (p.Gly194Trp) c.823G>T (p.Gly275Trp) c.577G>T (p.Gly193Trp) c.829G>T (p.Gly277Trp) n.1000G>T | |
15 | g.43252795C= | CA2173102617 | TGM5 | c.826G= (p.Gly276=) n.295G= c.580G= (p.Gly194=) c.823G= (p.Gly275=) c.577G= (p.Gly193=) c.829G= (p.Gly277=) n.1000G= | |
15 | g.43252795C>G | CA392099009 | TGM5 | c.826G>C (p.Gly276Arg) n.295G>C c.580G>C (p.Gly194Arg) c.823G>C (p.Gly275Arg) c.577G>C (p.Gly193Arg) c.829G>C (p.Gly277Arg) n.1000G>C | |
15 | g.43252795C>T | CA392099007 | TGM5 | c.826G>A (p.Gly276Arg) n.295G>A c.580G>A (p.Gly194Arg) c.823G>A (p.Gly275Arg) c.577G>A (p.Gly193Arg) c.829G>A (p.Gly277Arg) n.1000G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43252796G>A | CA7521194 | TGM5 | c.825C>T (p.Tyr275=) n.294C>T c.579C>T (p.Tyr193=) c.822C>T (p.Tyr274=) c.576C>T (p.Tyr192=) c.828C>T (p.Tyr276=) n.999C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43252796G>C | CA392099011 | TGM5 | c.825C>G (p.Tyr275Ter) n.294C>G c.579C>G (p.Tyr193Ter) c.822C>G (p.Tyr274Ter) c.576C>G (p.Tyr192Ter) c.828C>G (p.Tyr276Ter) n.999C>G | |
15 | g.43252796G= | CA2173102618 | TGM5 | c.825C= (p.Tyr275=) n.294C= c.579C= (p.Tyr193=) c.822C= (p.Tyr274=) c.576C= (p.Tyr192=) c.828C= (p.Tyr276=) n.999C= | |
15 | g.43252796G>T | CA392099014 | TGM5 | c.825C>A (p.Tyr275Ter) n.294C>A c.579C>A (p.Tyr193Ter) c.822C>A (p.Tyr274Ter) c.576C>A (p.Tyr192Ter) c.828C>A (p.Tyr276Ter) n.999C>A | |
15 | g.43252797del | CA2838327960 | TGM5 | c.824del (p.Tyr275SerfsTer14) n.293del c.578del (p.Tyr193SerfsTer14) c.821del (p.Tyr274SerfsTer14) c.575del (p.Tyr192SerfsTer14) c.827del (p.Tyr276SerfsTer14) n.998del | |
15 | g.43252797T>A | CA392099016 | TGM5 | c.824A>T (p.Tyr275Phe) n.293A>T c.578A>T (p.Tyr193Phe) c.821A>T (p.Tyr274Phe) c.575A>T (p.Tyr192Phe) c.827A>T (p.Tyr276Phe) n.998A>T | |
15 | g.43252797T>C | CA392099018 | TGM5 | c.824A>G (p.Tyr275Cys) n.293A>G c.578A>G (p.Tyr193Cys) c.821A>G (p.Tyr274Cys) c.575A>G (p.Tyr192Cys) c.827A>G (p.Tyr276Cys) n.998A>G | |
15 | g.43252797T>G | CA392099020 | TGM5 | c.824A>C (p.Tyr275Ser) n.293A>C c.578A>C (p.Tyr193Ser) c.821A>C (p.Tyr274Ser) c.575A>C (p.Tyr192Ser) c.827A>C (p.Tyr276Ser) n.998A>C | |
15 | g.43252798A>C | CA392099023 | TGM5 | c.823T>G (p.Tyr275Asp) n.292T>G c.577T>G (p.Tyr193Asp) c.820T>G (p.Tyr274Asp) c.574T>G (p.Tyr192Asp) c.826T>G (p.Tyr276Asp) n.997T>G | |
15 | g.43252798A>G | CA392099025 | TGM5 | c.823T>C (p.Tyr275His) n.292T>C c.577T>C (p.Tyr193His) c.820T>C (p.Tyr274His) c.574T>C (p.Tyr192His) c.826T>C (p.Tyr276His) n.997T>C | |
15 | g.43252798A>T | CA392099027 | TGM5 | c.823T>A (p.Tyr275Asn) n.292T>A c.577T>A (p.Tyr193Asn) c.820T>A (p.Tyr274Asn) c.574T>A (p.Tyr192Asn) c.826T>A (p.Tyr276Asn) n.997T>A | |
15 | g.43252799G>A | CA490131451 | TGM5 | c.822C>T (p.Arg274=) n.291C>T c.576C>T (p.Arg192=) c.819C>T (p.Arg273=) c.573C>T (p.Arg191=) c.825C>T (p.Arg275=) n.996C>T | |
15 | g.43252799G>C | CA490131453 | TGM5 | c.822C>G (p.Arg274=) n.291C>G c.576C>G (p.Arg192=) c.819C>G (p.Arg273=) c.573C>G (p.Arg191=) c.825C>G (p.Arg275=) n.996C>G | |
15 | g.43252799G>T | CA490131452 | TGM5 | c.822C>A (p.Arg274=) n.291C>A c.576C>A (p.Arg192=) c.819C>A (p.Arg273=) c.573C>A (p.Arg191=) c.825C>A (p.Arg275=) n.996C>A | |
15 | g.43252800C>A | CA7521196 | TGM5 | c.821G>T (p.Arg274Leu) n.290G>T c.575G>T (p.Arg192Leu) c.818G>T (p.Arg273Leu) c.572G>T (p.Arg191Leu) c.824G>T (p.Arg275Leu) n.995G>T | dbSNP ExAC gnomAD v4 |
15 | g.43252800C= | CA2173102619 | TGM5 | c.821G= (p.Arg274=) n.290G= c.575G= (p.Arg192=) c.818G= (p.Arg273=) c.572G= (p.Arg191=) c.824G= (p.Arg275=) n.995G= | |
15 | g.43252800C>G | CA392099032 | TGM5 | c.821G>C (p.Arg274Pro) n.290G>C c.575G>C (p.Arg192Pro) c.818G>C (p.Arg273Pro) c.572G>C (p.Arg191Pro) c.824G>C (p.Arg275Pro) n.995G>C | |
15 | g.43252800C>T | CA7521195 | TGM5 | c.821G>A (p.Arg274His) n.290G>A c.575G>A (p.Arg192His) c.818G>A (p.Arg273His) c.572G>A (p.Arg191His) c.824G>A (p.Arg275His) n.995G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43252801G>A | CA7521198 | TGM5 | c.820C>T (p.Arg274Cys) n.289C>T c.574C>T (p.Arg192Cys) c.817C>T (p.Arg273Cys) c.571C>T (p.Arg191Cys) c.823C>T (p.Arg275Cys) n.994C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.43252801G>C | CA392099038 | TGM5 | c.820C>G (p.Arg274Gly) n.289C>G c.574C>G (p.Arg192Gly) c.817C>G (p.Arg273Gly) c.571C>G (p.Arg191Gly) c.823C>G (p.Arg275Gly) n.994C>G | |
15 | g.43252801G= | CA2173102620 | TGM5 | c.820C= (p.Arg274=) n.289C= c.574C= (p.Arg192=) c.817C= (p.Arg273=) c.571C= (p.Arg191=) c.823C= (p.Arg275=) n.994C= | |
15 | g.43252801G>T | CA7521197 | TGM5 | c.820C>A (p.Arg274Ser) n.289C>A c.574C>A (p.Arg192Ser) c.817C>A (p.Arg273Ser) c.571C>A (p.Arg191Ser) c.823C>A (p.Arg275Ser) n.994C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.43252802C>A | CA490131454 | TGM5 | c.819G>T (p.Val273=) n.288G>T c.573G>T (p.Val191=) c.816G>T (p.Val272=) c.570G>T (p.Val190=) c.822G>T (p.Val274=) n.993G>T | |
15 | g.43252802C= | CA2173102621 | TGM5 | c.819G= (p.Val273=) n.288G= c.573G= (p.Val191=) c.816G= (p.Val272=) c.570G= (p.Val190=) c.822G= (p.Val274=) n.993G= | |
15 | g.43252802C>G | CA490131455 | TGM5 | c.819G>C (p.Val273=) n.288G>C c.573G>C (p.Val191=) c.816G>C (p.Val272=) c.570G>C (p.Val190=) c.822G>C (p.Val274=) n.993G>C | dbSNP gnomAD v2 gnomAD v4 |
15 | g.43252802C>T | CA490131456 | TGM5 | c.819G>A (p.Val273=) n.288G>A c.573G>A (p.Val191=) c.816G>A (p.Val272=) c.570G>A (p.Val190=) c.822G>A (p.Val274=) n.993G>A | dbSNP gnomAD v4 |
15 | g.43252803A= | CA2173102622 | TGM5 | c.818T= (p.Val273=) n.287T= c.572T= (p.Val191=) c.815T= (p.Val272=) c.569T= (p.Val190=) c.821T= (p.Val274=) n.992T= | |
15 | g.43252803A>C | CA392099040 | TGM5 | c.818T>G (p.Val273Gly) n.287T>G c.572T>G (p.Val191Gly) c.815T>G (p.Val272Gly) c.569T>G (p.Val190Gly) c.821T>G (p.Val274Gly) n.992T>G | gnomAD v4 |
15 | g.43252803A>G | CA392099041 | TGM5 | c.818T>C (p.Val273Ala) n.287T>C c.572T>C (p.Val191Ala) c.815T>C (p.Val272Ala) c.569T>C (p.Val190Ala) c.821T>C (p.Val274Ala) n.992T>C | dbSNP gnomAD v3 gnomAD v4 |
15 | g.43252803A>T | CA392099044 | TGM5 | c.818T>A (p.Val273Glu) n.287T>A c.572T>A (p.Val191Glu) c.815T>A (p.Val272Glu) c.569T>A (p.Val190Glu) c.821T>A (p.Val274Glu) n.992T>A | dbSNP gnomAD v4 |
15 | g.43252804C>A | CA392099047 | TGM5 | c.817G>T (p.Val273Leu) n.286G>T c.571G>T (p.Val191Leu) c.814G>T (p.Val272Leu) c.568G>T (p.Val190Leu) c.820G>T (p.Val274Leu) n.991G>T | |
15 | g.43252804C= | CA2173102623 | TGM5 | c.817G= (p.Val273=) n.286G= c.571G= (p.Val191=) c.814G= (p.Val272=) c.568G= (p.Val190=) c.820G= (p.Val274=) n.991G= | |
15 | g.43252804C>G | CA7521200 | TGM5 | c.817G>C (p.Val273Leu) n.286G>C c.571G>C (p.Val191Leu) c.814G>C (p.Val272Leu) c.568G>C (p.Val190Leu) c.820G>C (p.Val274Leu) n.991G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43252804C>T | CA7521199 | TGM5 | c.817G>A (p.Val273Met) n.286G>A c.571G>A (p.Val191Met) c.814G>A (p.Val272Met) c.568G>A (p.Val190Met) c.820G>A (p.Val274Met) n.991G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43252804_43252805delinsCG | CA2173102624 | TGM5 | c.816_817delinsCG (p.Pro272=) n.285_286delinsCG c.570_571delinsCG (p.Pro190=) c.813_814delinsCG (p.Pro271=) c.567_568delinsCG (p.Pro189=) c.819_820delinsCG (p.Pro273=) n.990_991delinsCG | |
15 | g.43252805G>A | CA7521202 | TGM5 | c.816C>T (p.Pro272=) n.285C>T c.570C>T (p.Pro190=) c.813C>T (p.Pro271=) c.567C>T (p.Pro189=) c.819C>T (p.Pro273=) n.990C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43252805G>C | CA490131457 | TGM5 | c.816C>G (p.Pro272=) n.285C>G c.570C>G (p.Pro190=) c.813C>G (p.Pro271=) c.567C>G (p.Pro189=) c.819C>G (p.Pro273=) n.990C>G | |
15 | g.43252805G= | CA2173102625 | TGM5 | c.816C= (p.Pro272=) n.285C= c.570C= (p.Pro190=) c.813C= (p.Pro271=) c.567C= (p.Pro189=) c.819C= (p.Pro273=) n.990C= | |
15 | g.43252805G>T | CA490131458 | TGM5 | c.816C>A (p.Pro272=) n.285C>A c.570C>A (p.Pro190=) c.813C>A (p.Pro271=) c.567C>A (p.Pro189=) c.819C>A (p.Pro273=) n.990C>A | |
15 | g.43252807del | CA7521201 | TGM5 | c.816del (p.Val273CysfsTer16) n.285del c.570del (p.Val191CysfsTer16) c.813del (p.Val272CysfsTer16) c.567del (p.Val190CysfsTer16) c.819del (p.Val274CysfsTer16) n.990del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43252806G>A | CA392099064 | TGM5 | c.815C>T (p.Pro272Leu) n.284C>T c.569C>T (p.Pro190Leu) c.812C>T (p.Pro271Leu) c.566C>T (p.Pro189Leu) c.818C>T (p.Pro273Leu) n.989C>T | |
15 | g.43252806G>C | CA392099066 | TGM5 | c.815C>G (p.Pro272Arg) n.284C>G c.569C>G (p.Pro190Arg) c.812C>G (p.Pro271Arg) c.566C>G (p.Pro189Arg) c.818C>G (p.Pro273Arg) n.989C>G | |
15 | g.43252806G>T | CA392099062 | TGM5 | c.815C>A (p.Pro272His) n.284C>A c.569C>A (p.Pro190His) c.812C>A (p.Pro271His) c.566C>A (p.Pro189His) c.818C>A (p.Pro273His) n.989C>A | |
15 | g.43252807G>A | CA392099070 | TGM5 | c.814C>T (p.Pro272Ser) n.283C>T c.568C>T (p.Pro190Ser) c.811C>T (p.Pro271Ser) c.565C>T (p.Pro189Ser) c.817C>T (p.Pro273Ser) n.988C>T | gnomAD v4 |
15 | g.43252807G>C | CA392099071 | TGM5 | c.814C>G (p.Pro272Ala) n.283C>G c.568C>G (p.Pro190Ala) c.811C>G (p.Pro271Ala) c.565C>G (p.Pro189Ala) c.817C>G (p.Pro273Ala) n.988C>G | |
15 | g.43252807G>T | CA392099073 | TGM5 | c.814C>A (p.Pro272Thr) n.283C>A c.568C>A (p.Pro190Thr) c.811C>A (p.Pro271Thr) c.565C>A (p.Pro189Thr) c.817C>A (p.Pro273Thr) n.988C>A | |
15 | g.43252808C>A | CA392099076 | TGM5 | c.813G>T (p.Gln271His) n.282G>T c.567G>T (p.Gln189His) c.810G>T (p.Gln270His) c.564G>T (p.Gln188His) c.816G>T (p.Gln272His) n.987G>T | |
15 | g.43252808C>G | CA392099079 | TGM5 | c.813G>C (p.Gln271His) n.282G>C c.567G>C (p.Gln189His) c.810G>C (p.Gln270His) c.564G>C (p.Gln188His) c.816G>C (p.Gln272His) n.987G>C | |
15 | g.43252808C>T | CA490131459 | TGM5 | c.813G>A (p.Gln271=) n.282G>A c.567G>A (p.Gln189=) c.810G>A (p.Gln270=) c.564G>A (p.Gln188=) c.816G>A (p.Gln272=) n.987G>A | gnomAD v4 |
15 | g.43252809T>A | CA392099081 | TGM5 | c.812A>T (p.Gln271Leu) n.281A>T c.566A>T (p.Gln189Leu) c.809A>T (p.Gln270Leu) c.563A>T (p.Gln188Leu) c.815A>T (p.Gln272Leu) n.986A>T | |
15 | g.43252809T>C | CA392099084 | TGM5 | c.812A>G (p.Gln271Arg) n.281A>G c.566A>G (p.Gln189Arg) c.809A>G (p.Gln270Arg) c.563A>G (p.Gln188Arg) c.815A>G (p.Gln272Arg) n.986A>G | |
15 | g.43252809T>G | CA392099086 | TGM5 | c.812A>C (p.Gln271Pro) n.281A>C c.566A>C (p.Gln189Pro) c.809A>C (p.Gln270Pro) c.563A>C (p.Gln188Pro) c.815A>C (p.Gln272Pro) n.986A>C | |
15 | g.43252810G>A | CA392099089 | TGM5 | c.811C>T (p.Gln271Ter) n.280C>T c.565C>T (p.Gln189Ter) c.808C>T (p.Gln270Ter) c.562C>T (p.Gln188Ter) c.814C>T (p.Gln272Ter) n.985C>T | |
15 | g.43252810G>C | CA392099091 | TGM5 | c.811C>G (p.Gln271Glu) n.280C>G c.565C>G (p.Gln189Glu) c.808C>G (p.Gln270Glu) c.562C>G (p.Gln188Glu) c.814C>G (p.Gln272Glu) n.985C>G | |
15 | g.43252810G>T | CA392099092 | TGM5 | c.811C>A (p.Gln271Lys) n.280C>A c.565C>A (p.Gln189Lys) c.808C>A (p.Gln270Lys) c.562C>A (p.Gln188Lys) c.814C>A (p.Gln272Lys) n.985C>A | |
15 | g.43252811G>A | CA7521203 | TGM5 | c.810C>T (p.Cys270=) n.279C>T c.564C>T (p.Cys188=) c.807C>T (p.Cys269=) c.561C>T (p.Cys187=) c.813C>T (p.Cys271=) n.984C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43252811G>C | CA392099095 | TGM5 | c.810C>G (p.Cys270Trp) n.279C>G c.564C>G (p.Cys188Trp) c.807C>G (p.Cys269Trp) c.561C>G (p.Cys187Trp) c.813C>G (p.Cys271Trp) n.984C>G | |
15 | g.43252811G= | CA2173102626 | TGM5 | c.810C= (p.Cys270=) n.279C= c.564C= (p.Cys188=) c.807C= (p.Cys269=) c.561C= (p.Cys187=) c.813C= (p.Cys271=) n.984C= | |
15 | g.43252811G>T | CA392099097 | TGM5 | c.810C>A (p.Cys270Ter) n.279C>A c.564C>A (p.Cys188Ter) c.807C>A (p.Cys269Ter) c.561C>A (p.Cys187Ter) c.813C>A (p.Cys271Ter) n.984C>A | |
15 | g.43252812C>A | CA392099100 | TGM5 | c.809G>T (p.Cys270Phe) n.278G>T c.563G>T (p.Cys188Phe) c.806G>T (p.Cys269Phe) c.560G>T (p.Cys187Phe) c.812G>T (p.Cys271Phe) n.983G>T | |
15 | g.43252812C>G | CA392099102 | TGM5 | c.809G>C (p.Cys270Ser) n.278G>C c.563G>C (p.Cys188Ser) c.806G>C (p.Cys269Ser) c.560G>C (p.Cys187Ser) c.812G>C (p.Cys271Ser) n.983G>C | |
15 | g.43252812C>T | CA392099104 | TGM5 | c.809G>A (p.Cys270Tyr) n.278G>A c.563G>A (p.Cys188Tyr) c.806G>A (p.Cys269Tyr) c.560G>A (p.Cys187Tyr) c.812G>A (p.Cys271Tyr) n.983G>A | gnomAD v4 |
15 | g.43252812_43252813del | CA2573054006 | TGM5 | c.808_809del (p.Cys270ProfsTer?) n.277_278del c.562_563del (p.Cys188ProfsTer?) c.805_806del (p.Cys269ProfsTer?) c.559_560del (p.Cys187ProfsTer?) c.811_812del (p.Cys271ProfsTer?) n.982_983del | dbSNP |
15 | g.43252813A>C | CA392099108 | TGM5 | c.808T>G (p.Cys270Gly) n.277T>G c.562T>G (p.Cys188Gly) c.805T>G (p.Cys269Gly) c.559T>G (p.Cys187Gly) c.811T>G (p.Cys271Gly) n.982T>G | gnomAD v4 |
15 | g.43252813A>G | CA392099110 | TGM5 | c.808T>C (p.Cys270Arg) n.277T>C c.562T>C (p.Cys188Arg) c.805T>C (p.Cys269Arg) c.559T>C (p.Cys187Arg) c.811T>C (p.Cys271Arg) n.982T>C | |
15 | g.43252813A>T | CA392099112 | TGM5 | c.808T>A (p.Cys270Ser) n.277T>A c.562T>A (p.Cys188Ser) c.805T>A (p.Cys269Ser) c.559T>A (p.Cys187Ser) c.811T>A (p.Cys271Ser) n.982T>A | |
15 | g.43252814G>A | CA490131462 | TGM5 | c.807C>T (p.Gly269=) n.276C>T c.561C>T (p.Gly187=) c.804C>T (p.Gly268=) c.558C>T (p.Gly186=) c.810C>T (p.Gly270=) n.981C>T | |
15 | g.43252814G>C | CA490131460 | TGM5 | c.807C>G (p.Gly269=) n.276C>G c.561C>G (p.Gly187=) c.804C>G (p.Gly268=) c.558C>G (p.Gly186=) c.810C>G (p.Gly270=) n.981C>G | gnomAD v4 |
15 | g.43252814G>T | CA490131461 | TGM5 | c.807C>A (p.Gly269=) n.276C>A c.561C>A (p.Gly187=) c.804C>A (p.Gly268=) c.558C>A (p.Gly186=) c.810C>A (p.Gly270=) n.981C>A | |
15 | g.43252815C>A | CA392099116 | TGM5 | c.806G>T (p.Gly269Val) n.275G>T c.560G>T (p.Gly187Val) c.803G>T (p.Gly268Val) c.557G>T (p.Gly186Val) c.809G>T (p.Gly270Val) n.980G>T | |
15 | g.43252815C= | CA2173102627 | TGM5 | c.806G= (p.Gly269=) n.275G= c.560G= (p.Gly187=) c.803G= (p.Gly268=) c.557G= (p.Gly186=) c.809G= (p.Gly270=) n.980G= | |
15 | g.43252815C>G | CA392099118 | TGM5 | c.806G>C (p.Gly269Ala) n.275G>C c.560G>C (p.Gly187Ala) c.803G>C (p.Gly268Ala) c.557G>C (p.Gly186Ala) c.809G>C (p.Gly270Ala) n.980G>C | |
15 | g.43252815C>T | CA392099119 | TGM5 | c.806G>A (p.Gly269Asp) n.275G>A c.560G>A (p.Gly187Asp) c.803G>A (p.Gly268Asp) c.557G>A (p.Gly186Asp) c.809G>A (p.Gly270Asp) n.980G>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.43252816C>A | CA392099122 | TGM5 | c.805G>T (p.Gly269Cys) n.274G>T c.559G>T (p.Gly187Cys) c.802G>T (p.Gly268Cys) c.556G>T (p.Gly186Cys) c.808G>T (p.Gly270Cys) n.979G>T | |
15 | g.43252816C= | CA2173102628 | TGM5 | c.805G= (p.Gly269=) n.274G= c.559G= (p.Gly187=) c.802G= (p.Gly268=) c.556G= (p.Gly186=) c.808G= (p.Gly270=) n.979G= | |
15 | g.43252816C>G | CA392099124 | TGM5 | c.805G>C (p.Gly269Arg) n.274G>C c.559G>C (p.Gly187Arg) c.802G>C (p.Gly268Arg) c.556G>C (p.Gly186Arg) c.808G>C (p.Gly270Arg) n.979G>C | |
15 | g.43252816C>T | CA7521204 | TGM5 | c.805G>A (p.Gly269Ser) n.274G>A c.559G>A (p.Gly187Ser) c.802G>A (p.Gly268Ser) c.556G>A (p.Gly186Ser) c.808G>A (p.Gly270Ser) n.979G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.43252817T>A | CA490131463 | TGM5 | c.804A>T (p.Thr268=) n.273A>T c.558A>T (p.Thr186=) c.801A>T (p.Thr267=) c.555A>T (p.Thr185=) c.807A>T (p.Thr269=) n.978A>T | |
15 | g.43252817T>C | CA490131464 | TGM5 | c.804A>G (p.Thr268=) n.273A>G c.558A>G (p.Thr186=) c.801A>G (p.Thr267=) c.555A>G (p.Thr185=) c.807A>G (p.Thr269=) n.978A>G | dbSNP |
15 | g.43252817T>G | CA490131465 | TGM5 | c.804A>C (p.Thr268=) n.273A>C c.558A>C (p.Thr186=) c.801A>C (p.Thr267=) c.555A>C (p.Thr185=) c.807A>C (p.Thr269=) n.978A>C | |
15 | g.43252817T= | CA2173102629 | TGM5 | c.804A= (p.Thr268=) n.273A= c.558A= (p.Thr186=) c.801A= (p.Thr267=) c.555A= (p.Thr185=) c.807A= (p.Thr269=) n.978A= | |
15 | g.43252818G>A | CA392099130 | TGM5 | c.803C>T (p.Thr268Ile) n.272C>T c.557C>T (p.Thr186Ile) c.800C>T (p.Thr267Ile) c.554C>T (p.Thr185Ile) c.806C>T (p.Thr269Ile) n.977C>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.43252818G>C | CA392099133 | TGM5 | c.803C>G (p.Thr268Arg) n.272C>G c.557C>G (p.Thr186Arg) c.800C>G (p.Thr267Arg) c.554C>G (p.Thr185Arg) c.806C>G (p.Thr269Arg) n.977C>G | |
15 | g.43252818G= | CA2173102630 | TGM5 | c.803C= (p.Thr268=) n.272C= c.557C= (p.Thr186=) c.800C= (p.Thr267=) c.554C= (p.Thr185=) c.806C= (p.Thr269=) n.977C= | |
15 | g.43252818G>T | CA392099128 | TGM5 | c.803C>A (p.Thr268Lys) n.272C>A c.557C>A (p.Thr186Lys) c.800C>A (p.Thr267Lys) c.554C>A (p.Thr185Lys) c.806C>A (p.Thr269Lys) n.977C>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.43252819T>A | CA392099139 | TGM5 | c.802A>T (p.Thr268Ser) n.271A>T c.556A>T (p.Thr186Ser) c.799A>T (p.Thr267Ser) c.553A>T (p.Thr185Ser) c.805A>T (p.Thr269Ser) n.976A>T | |
15 | g.43252819T>C | CA392099135 | TGM5 | c.802A>G (p.Thr268Ala) n.271A>G c.556A>G (p.Thr186Ala) c.799A>G (p.Thr267Ala) c.553A>G (p.Thr185Ala) c.805A>G (p.Thr269Ala) n.976A>G | |
15 | g.43252819T>G | CA392099137 | TGM5 | c.802A>C (p.Thr268Pro) n.271A>C c.556A>C (p.Thr186Pro) c.799A>C (p.Thr267Pro) c.553A>C (p.Thr185Pro) c.805A>C (p.Thr269Pro) n.976A>C | |
15 | g.43252820G>A | CA490131466 | TGM5 | c.801C>T (p.Ala267=) n.270C>T c.555C>T (p.Ala185=) c.798C>T (p.Ala266=) c.552C>T (p.Ala184=) c.804C>T (p.Ala268=) n.975C>T | |
15 | g.43252820G>C | CA490131467 | TGM5 | c.801C>G (p.Ala267=) n.270C>G c.555C>G (p.Ala185=) c.798C>G (p.Ala266=) c.552C>G (p.Ala184=) c.804C>G (p.Ala268=) n.975C>G | |
15 | g.43252820G>T | CA490131468 | TGM5 | c.801C>A (p.Ala267=) n.270C>A c.555C>A (p.Ala185=) c.798C>A (p.Ala266=) c.552C>A (p.Ala184=) c.804C>A (p.Ala268=) n.975C>A | |
15 | g.43252821G>A | CA392099143 | TGM5 | c.800C>T (p.Ala267Val) n.269C>T c.554C>T (p.Ala185Val) c.797C>T (p.Ala266Val) c.551C>T (p.Ala184Val) c.803C>T (p.Ala268Val) n.974C>T | |
15 | g.43252821G>C | CA392099145 | TGM5 | c.800C>G (p.Ala267Gly) n.269C>G c.554C>G (p.Ala185Gly) c.797C>G (p.Ala266Gly) c.551C>G (p.Ala184Gly) c.803C>G (p.Ala268Gly) n.974C>G | |
15 | g.43252821G>T | CA392099147 | TGM5 | c.800C>A (p.Ala267Asp) n.269C>A c.554C>A (p.Ala185Asp) c.797C>A (p.Ala266Asp) c.551C>A (p.Ala184Asp) c.803C>A (p.Ala268Asp) n.974C>A | |
15 | g.43252822C>A | CA392099153 | TGM5 | c.799G>T (p.Ala267Ser) n.268G>T c.553G>T (p.Ala185Ser) c.796G>T (p.Ala266Ser) c.550G>T (p.Ala184Ser) c.802G>T (p.Ala268Ser) n.973G>T | |
15 | g.43252822C= | CA2173102631 | TGM5 | c.799G= (p.Ala267=) n.268G= c.553G= (p.Ala185=) c.796G= (p.Ala266=) c.550G= (p.Ala184=) c.802G= (p.Ala268=) n.973G= | |
15 | g.43252822C>G | CA392099150 | TGM5 | c.799G>C (p.Ala267Pro) n.268G>C c.553G>C (p.Ala185Pro) c.796G>C (p.Ala266Pro) c.550G>C (p.Ala184Pro) c.802G>C (p.Ala268Pro) n.973G>C | |
15 | g.43252822C>T | CA7521205 | TGM5 | c.799G>A (p.Ala267Thr) n.268G>A c.553G>A (p.Ala185Thr) c.796G>A (p.Ala266Thr) c.550G>A (p.Ala184Thr) c.802G>A (p.Ala268Thr) n.973G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
15 | g.43252823G>A | CA7521206 | TGM5 | c.798C>T (p.Asn266=) n.267C>T c.552C>T (p.Asn184=) c.795C>T (p.Asn265=) c.549C>T (p.Asn183=) c.801C>T (p.Asn267=) n.972C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.43252823G>C | CA392099157 | TGM5 | c.798C>G (p.Asn266Lys) n.267C>G c.552C>G (p.Asn184Lys) c.795C>G (p.Asn265Lys) c.549C>G (p.Asn183Lys) c.801C>G (p.Asn267Lys) n.972C>G | gnomAD v4 |
15 | g.43252823G= | CA2173102632 | TGM5 | c.798C= (p.Asn266=) n.267C= c.552C= (p.Asn184=) c.795C= (p.Asn265=) c.549C= (p.Asn183=) c.801C= (p.Asn267=) n.972C= | |
15 | g.43252823G>T | CA392099159 | TGM5 | c.798C>A (p.Asn266Lys) n.267C>A c.552C>A (p.Asn184Lys) c.795C>A (p.Asn265Lys) c.549C>A (p.Asn183Lys) c.801C>A (p.Asn267Lys) n.972C>A | |
15 | g.43252824T>A | CA392099162 | TGM5 | c.797A>T (p.Asn266Ile) n.266A>T c.551A>T (p.Asn184Ile) c.794A>T (p.Asn265Ile) c.548A>T (p.Asn183Ile) c.800A>T (p.Asn267Ile) n.971A>T | |
15 | g.43252824T>C | CA392099165 | TGM5 | c.797A>G (p.Asn266Ser) n.266A>G c.551A>G (p.Asn184Ser) c.794A>G (p.Asn265Ser) c.548A>G (p.Asn183Ser) c.800A>G (p.Asn267Ser) n.971A>G | |
15 | g.43252824T>G | CA392099167 | TGM5 | c.797A>C (p.Asn266Thr) n.266A>C c.551A>C (p.Asn184Thr) c.794A>C (p.Asn265Thr) c.548A>C (p.Asn183Thr) c.800A>C (p.Asn267Thr) n.971A>C | |
15 | g.43252825T>A | CA392099170 | TGM5 | c.796A>T (p.Asn266Tyr) n.265A>T c.550A>T (p.Asn184Tyr) c.793A>T (p.Asn265Tyr) c.547A>T (p.Asn183Tyr) c.799A>T (p.Asn267Tyr) n.970A>T | |
15 | g.43252825T>C | CA392099175 | TGM5 | c.796A>G (p.Asn266Asp) n.265A>G c.550A>G (p.Asn184Asp) c.793A>G (p.Asn265Asp) c.547A>G (p.Asn183Asp) c.799A>G (p.Asn267Asp) n.970A>G | |
15 | g.43252825T>G | CA392099173 | TGM5 | c.796A>C (p.Asn266His) n.265A>C c.550A>C (p.Asn184His) c.793A>C (p.Asn265His) c.547A>C (p.Asn183His) c.799A>C (p.Asn267His) n.970A>C | |
15 | g.43252826C>A | CA392099176 | TGM5 | c.795G>T (p.Trp265Cys) n.264G>T c.549G>T (p.Trp183Cys) c.792G>T (p.Trp264Cys) c.546G>T (p.Trp182Cys) c.798G>T (p.Trp266Cys) n.969G>T | |
15 | g.43252826C= | CA2173102633 | TGM5 | c.795G= (p.Trp265=) n.264G= c.549G= (p.Trp183=) c.792G= (p.Trp264=) c.546G= (p.Trp182=) c.798G= (p.Trp266=) n.969G= | |
15 | g.43252826C>G | CA392099179 | TGM5 | c.795G>C (p.Trp265Cys) n.264G>C c.549G>C (p.Trp183Cys) c.792G>C (p.Trp264Cys) c.546G>C (p.Trp182Cys) c.798G>C (p.Trp266Cys) n.969G>C | |
15 | g.43252826C>T | CA269975286 | TGM5 | c.795G>A (p.Trp265Ter) n.264G>A c.549G>A (p.Trp183Ter) c.792G>A (p.Trp264Ter) c.546G>A (p.Trp182Ter) c.798G>A (p.Trp266Ter) n.969G>A | dbSNP |
15 | g.43252827C>A | CA392099182 | TGM5 | c.794G>T (p.Trp265Leu) n.263G>T c.548G>T (p.Trp183Leu) c.791G>T (p.Trp264Leu) c.545G>T (p.Trp182Leu) c.797G>T (p.Trp266Leu) n.968G>T | |
15 | g.43252827C>G | CA392099184 | TGM5 | c.794G>C (p.Trp265Ser) n.263G>C c.548G>C (p.Trp183Ser) c.791G>C (p.Trp264Ser) c.545G>C (p.Trp182Ser) c.797G>C (p.Trp266Ser) n.968G>C | |
15 | g.43252827C>T | CA392099187 | TGM5 | c.794G>A (p.Trp265Ter) n.263G>A c.548G>A (p.Trp183Ter) c.791G>A (p.Trp264Ter) c.545G>A (p.Trp182Ter) c.797G>A (p.Trp266Ter) n.968G>A | gnomAD v4 |
15 | g.43252828A>C | CA392099190 | TGM5 | c.793T>G (p.Trp265Gly) n.262T>G c.547T>G (p.Trp183Gly) c.790T>G (p.Trp264Gly) c.544T>G (p.Trp182Gly) c.796T>G (p.Trp266Gly) n.967T>G | |
15 | g.43252828A>G | CA392099192 | TGM5 | c.793T>C (p.Trp265Arg) n.262T>C c.547T>C (p.Trp183Arg) c.790T>C (p.Trp264Arg) c.544T>C (p.Trp182Arg) c.796T>C (p.Trp266Arg) n.967T>C | |
15 | g.43252828A>T | CA392099194 | TGM5 | c.793T>A (p.Trp265Arg) n.262T>A c.547T>A (p.Trp183Arg) c.790T>A (p.Trp264Arg) c.544T>A (p.Trp182Arg) c.796T>A (p.Trp266Arg) n.967T>A | |
15 | g.43252829C>A | CA392099196 | TGM5 | c.792G>T (p.Gln264His) n.261G>T c.546G>T (p.Gln182His) c.789G>T (p.Gln263His) c.543G>T (p.Gln181His) c.795G>T (p.Gln265His) n.966G>T | |
15 | g.43252829C= | CA2173102634 | TGM5 | c.792G= (p.Gln264=) n.261G= c.546G= (p.Gln182=) c.789G= (p.Gln263=) c.543G= (p.Gln181=) c.795G= (p.Gln265=) n.966G= | |
15 | g.43252829C>G | CA392099197 | TGM5 | c.792G>C (p.Gln264His) n.261G>C c.546G>C (p.Gln182His) c.789G>C (p.Gln263His) c.543G>C (p.Gln181His) c.795G>C (p.Gln265His) n.966G>C | |
15 | g.43252829C>T | CA269975289 | TGM5 | c.792G>A (p.Gln264=) n.261G>A c.546G>A (p.Gln182=) c.789G>A (p.Gln263=) c.543G>A (p.Gln181=) c.795G>A (p.Gln265=) n.966G>A | dbSNP |
15 | g.43252830T>A | CA392099200 | TGM5 | c.791A>T (p.Gln264Leu) n.260A>T c.545A>T (p.Gln182Leu) c.788A>T (p.Gln263Leu) c.542A>T (p.Gln181Leu) c.794A>T (p.Gln265Leu) n.965A>T | |
15 | g.43252830T>C | CA7521207 | TGM5 | c.791A>G (p.Gln264Arg) n.260A>G c.545A>G (p.Gln182Arg) c.788A>G (p.Gln263Arg) c.542A>G (p.Gln181Arg) c.794A>G (p.Gln265Arg) n.965A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43252830T>G | CA392099198 | TGM5 | c.791A>C (p.Gln264Pro) n.260A>C c.545A>C (p.Gln182Pro) c.788A>C (p.Gln263Pro) c.542A>C (p.Gln181Pro) c.794A>C (p.Gln265Pro) n.965A>C | |
15 | g.43252830T= | CA2173102635 | TGM5 | c.791A= (p.Gln264=) n.260A= c.545A= (p.Gln182=) c.788A= (p.Gln263=) c.542A= (p.Gln181=) c.794A= (p.Gln265=) n.965A= | |
15 | g.43252831G>A | CA392099203 | TGM5 | c.790C>T (p.Gln264Ter) n.259C>T c.544C>T (p.Gln182Ter) c.787C>T (p.Gln263Ter) c.541C>T (p.Gln181Ter) c.793C>T (p.Gln265Ter) n.964C>T | |
15 | g.43252831G>C | CA392099205 | TGM5 | c.790C>G (p.Gln264Glu) n.259C>G c.544C>G (p.Gln182Glu) c.787C>G (p.Gln263Glu) c.541C>G (p.Gln181Glu) c.793C>G (p.Gln265Glu) n.964C>G | gnomAD v4 |
15 | g.43252831G= | CA2173102636 | TGM5 | c.790C= (p.Gln264=) n.259C= c.544C= (p.Gln182=) c.787C= (p.Gln263=) c.541C= (p.Gln181=) c.793C= (p.Gln265=) n.964C= | |
15 | g.43252831G>T | CA269975290 | TGM5 | c.790C>A (p.Gln264Lys) n.259C>A c.544C>A (p.Gln182Lys) c.787C>A (p.Gln263Lys) c.541C>A (p.Gln181Lys) c.793C>A (p.Gln265Lys) n.964C>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.43252832C>A | CA392099209 | TGM5 | c.789G>T (p.Lys263Asn) n.258G>T c.543G>T (p.Lys181Asn) c.786G>T (p.Lys262Asn) c.540G>T (p.Lys180Asn) c.792G>T (p.Lys264Asn) n.963G>T | |
15 | g.43252832C= | CA2173102637 | TGM5 | c.789G= (p.Lys263=) n.258G= c.543G= (p.Lys181=) c.786G= (p.Lys262=) c.540G= (p.Lys180=) c.792G= (p.Lys264=) n.963G= | |
15 | g.43252832C>G | CA392099211 | TGM5 | c.789G>C (p.Lys263Asn) n.258G>C c.543G>C (p.Lys181Asn) c.786G>C (p.Lys262Asn) c.540G>C (p.Lys180Asn) c.792G>C (p.Lys264Asn) n.963G>C | |
15 | g.43252832C>T | CA490131469 | TGM5 | c.789G>A (p.Lys263=) n.258G>A c.543G>A (p.Lys181=) c.786G>A (p.Lys262=) c.540G>A (p.Lys180=) c.792G>A (p.Lys264=) n.963G>A | dbSNP gnomAD v4 |
15 | g.43252833T>A | CA392099214 | TGM5 | c.788A>T (p.Lys263Met) n.257A>T c.542A>T (p.Lys181Met) c.785A>T (p.Lys262Met) c.539A>T (p.Lys180Met) c.791A>T (p.Lys264Met) n.962A>T | |
15 | g.43252833T>C | CA392099216 | TGM5 | c.788A>G (p.Lys263Arg) n.257A>G c.542A>G (p.Lys181Arg) c.785A>G (p.Lys262Arg) c.539A>G (p.Lys180Arg) c.791A>G (p.Lys264Arg) n.962A>G | |
15 | g.43252833T>G | CA392099219 | TGM5 | c.788A>C (p.Lys263Thr) n.257A>C c.542A>C (p.Lys181Thr) c.785A>C (p.Lys262Thr) c.539A>C (p.Lys180Thr) c.791A>C (p.Lys264Thr) n.962A>C | |
15 | g.43252834T>A | CA392099222 | TGM5 | c.787A>T (p.Lys263Ter) n.256A>T c.541A>T (p.Lys181Ter) c.784A>T (p.Lys262Ter) c.538A>T (p.Lys180Ter) c.790A>T (p.Lys264Ter) n.961A>T | |
15 | g.43252834T>C | CA392099226 | TGM5 | c.787A>G (p.Lys263Glu) n.256A>G c.541A>G (p.Lys181Glu) c.784A>G (p.Lys262Glu) c.538A>G (p.Lys180Glu) c.790A>G (p.Lys264Glu) n.961A>G | |
15 | g.43252834T>G | CA392099229 | TGM5 | c.787A>C (p.Lys263Gln) n.256A>C c.541A>C (p.Lys181Gln) c.784A>C (p.Lys262Gln) c.538A>C (p.Lys180Gln) c.790A>C (p.Lys264Gln) n.961A>C | |
15 | g.43252835C>A | CA490131472 | TGM5 | c.786G>T (p.Leu262=) n.255G>T c.540G>T (p.Leu180=) c.783G>T (p.Leu261=) c.537G>T (p.Leu179=) c.789G>T (p.Leu263=) n.960G>T | |
15 | g.43252835C>G | CA490131471 | TGM5 | c.786G>C (p.Leu262=) n.255G>C c.540G>C (p.Leu180=) c.783G>C (p.Leu261=) c.537G>C (p.Leu179=) c.789G>C (p.Leu263=) n.960G>C | |
15 | g.43252835C>T | CA490131470 | TGM5 | c.786G>A (p.Leu262=) n.255G>A c.540G>A (p.Leu180=) c.783G>A (p.Leu261=) c.537G>A (p.Leu179=) c.789G>A (p.Leu263=) n.960G>A | |
15 | g.43252836A>C | CA392099232 | TGM5 | c.785T>G (p.Leu262Arg) n.254T>G c.539T>G (p.Leu180Arg) c.782T>G (p.Leu261Arg) c.536T>G (p.Leu179Arg) c.788T>G (p.Leu263Arg) n.959T>G | |
15 | g.43252836A>G | CA392099235 | TGM5 | c.785T>C (p.Leu262Pro) n.254T>C c.539T>C (p.Leu180Pro) c.782T>C (p.Leu261Pro) c.536T>C (p.Leu179Pro) c.788T>C (p.Leu263Pro) n.959T>C | |
15 | g.43252836A>T | CA392099238 | TGM5 | c.785T>A (p.Leu262Gln) n.254T>A c.539T>A (p.Leu180Gln) c.782T>A (p.Leu261Gln) c.536T>A (p.Leu179Gln) c.788T>A (p.Leu263Gln) n.959T>A | |
15 | g.43252837G>A | CA490131473 | TGM5 | c.784C>T (p.Leu262=) n.253C>T c.538C>T (p.Leu180=) c.781C>T (p.Leu261=) c.535C>T (p.Leu179=) c.787C>T (p.Leu263=) n.958C>T | |
15 | g.43252837G>C | CA392099245 | TGM5 | c.784C>G (p.Leu262Val) n.253C>G c.538C>G (p.Leu180Val) c.781C>G (p.Leu261Val) c.535C>G (p.Leu179Val) c.787C>G (p.Leu263Val) n.958C>G | |
15 | g.43252837G>T | CA392099247 | TGM5 | c.784C>A (p.Leu262Met) n.253C>A c.538C>A (p.Leu180Met) c.781C>A (p.Leu261Met) c.535C>A (p.Leu179Met) c.787C>A (p.Leu263Met) n.958C>A | gnomAD v4 |
15 | g.43252838G>A | CA490131474 | TGM5 | c.783C>T (p.Ile261=) n.252C>T c.537C>T (p.Ile179=) c.780C>T (p.Ile260=) c.534C>T (p.Ile178=) c.786C>T (p.Ile262=) n.957C>T | |
15 | g.43252838G>C | CA392099252 | TGM5 | c.783C>G (p.Ile261Met) n.252C>G c.537C>G (p.Ile179Met) c.780C>G (p.Ile260Met) c.534C>G (p.Ile178Met) c.786C>G (p.Ile262Met) n.957C>G | |
15 | g.43252838G= | CA2173102638 | TGM5 | c.783C= (p.Ile261=) n.252C= c.537C= (p.Ile179=) c.780C= (p.Ile260=) c.534C= (p.Ile178=) c.786C= (p.Ile262=) n.957C= | |
15 | g.43252838G>T | CA490131475 | TGM5 | c.783C>A (p.Ile261=) n.252C>A c.537C>A (p.Ile179=) c.780C>A (p.Ile260=) c.534C>A (p.Ile178=) c.786C>A (p.Ile262=) n.957C>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.43252839A>C | CA392099255 | TGM5 | c.782T>G (p.Ile261Ser) n.251T>G c.536T>G (p.Ile179Ser) c.779T>G (p.Ile260Ser) c.533T>G (p.Ile178Ser) c.785T>G (p.Ile262Ser) n.956T>G | |
15 | g.43252839A>G | CA392099257 | TGM5 | c.782T>C (p.Ile261Thr) n.251T>C c.536T>C (p.Ile179Thr) c.779T>C (p.Ile260Thr) c.533T>C (p.Ile178Thr) c.785T>C (p.Ile262Thr) n.956T>C | gnomAD v4 |
15 | g.43252839A>T | CA392099260 | TGM5 | c.782T>A (p.Ile261Asn) n.251T>A c.536T>A (p.Ile179Asn) c.779T>A (p.Ile260Asn) c.533T>A (p.Ile178Asn) c.785T>A (p.Ile262Asn) n.956T>A | |
15 | g.43252840T>A | CA392099264 | TGM5 | c.781A>T (p.Ile261Phe) n.250A>T c.535A>T (p.Ile179Phe) c.778A>T (p.Ile260Phe) c.532A>T (p.Ile178Phe) c.784A>T (p.Ile262Phe) n.955A>T | |
15 | g.43252840T>C | CA392099268 | TGM5 | c.781A>G (p.Ile261Val) n.250A>G c.535A>G (p.Ile179Val) c.778A>G (p.Ile260Val) c.532A>G (p.Ile178Val) c.784A>G (p.Ile262Val) n.955A>G | dbSNP gnomAD v3 gnomAD v4 |
15 | g.43252840T>G | CA392099271 | TGM5 | c.781A>C (p.Ile261Leu) n.250A>C c.535A>C (p.Ile179Leu) c.778A>C (p.Ile260Leu) c.532A>C (p.Ile178Leu) c.784A>C (p.Ile262Leu) n.955A>C | |
15 | g.43252840T= | CA2173102639 | TGM5 | c.781A= (p.Ile261=) n.250A= c.535A= (p.Ile179=) c.778A= (p.Ile260=) c.532A= (p.Ile178=) c.784A= (p.Ile262=) n.955A= | |
15 | g.43252841G>A | CA490131476 | TGM5 | c.780C>T (p.Ala260=) n.249C>T c.534C>T (p.Ala178=) c.777C>T (p.Ala259=) c.531C>T (p.Ala177=) c.783C>T (p.Ala261=) n.954C>T | gnomAD v4 |
15 | g.43252841G>C | CA490131478 | TGM5 | c.780C>G (p.Ala260=) n.249C>G c.534C>G (p.Ala178=) c.777C>G (p.Ala259=) c.531C>G (p.Ala177=) c.783C>G (p.Ala261=) n.954C>G | |
15 | g.43252841G>T | CA490131477 | TGM5 | c.780C>A (p.Ala260=) n.249C>A c.534C>A (p.Ala178=) c.777C>A (p.Ala259=) c.531C>A (p.Ala177=) c.783C>A (p.Ala261=) n.954C>A | |
15 | g.43252842G>A | CA392099275 | TGM5 | c.779C>T (p.Ala260Val) n.248C>T c.533C>T (p.Ala178Val) c.776C>T (p.Ala259Val) c.530C>T (p.Ala177Val) c.782C>T (p.Ala261Val) n.953C>T | gnomAD v4 |
15 | g.43252842G>C | CA392099278 | TGM5 | c.779C>G (p.Ala260Gly) n.248C>G c.533C>G (p.Ala178Gly) c.776C>G (p.Ala259Gly) c.530C>G (p.Ala177Gly) c.782C>G (p.Ala261Gly) n.953C>G | |
15 | g.43252842G= | CA2173102640 | TGM5 | c.779C= (p.Ala260=) n.248C= c.533C= (p.Ala178=) c.776C= (p.Ala259=) c.530C= (p.Ala177=) c.782C= (p.Ala261=) n.953C= | |
15 | g.43252842G>T | CA7521208 | TGM5 | c.779C>A (p.Ala260Asp) n.248C>A c.533C>A (p.Ala178Asp) c.776C>A (p.Ala259Asp) c.530C>A (p.Ala177Asp) c.782C>A (p.Ala261Asp) n.953C>A | dbSNP ExAC gnomAD v4 |
15 | g.43252842_43252843delinsGC | CA2173102641 | TGM5 | c.778_779delinsGC (p.Ala260=) n.247_248delinsGC c.532_533delinsGC (p.Ala178=) c.775_776delinsGC (p.Ala259=) c.529_530delinsGC (p.Ala177=) c.781_782delinsGC (p.Ala261=) n.952_953delinsGC | |
15 | g.43252843C>A | CA392099283 | TGM5 | c.778G>T (p.Ala260Ser) n.247G>T c.532G>T (p.Ala178Ser) c.775G>T (p.Ala259Ser) c.529G>T (p.Ala177Ser) c.781G>T (p.Ala261Ser) n.952G>T | |
15 | g.43252843C>G | CA392099286 | TGM5 | c.778G>C (p.Ala260Pro) n.247G>C c.532G>C (p.Ala178Pro) c.775G>C (p.Ala259Pro) c.529G>C (p.Ala177Pro) c.781G>C (p.Ala261Pro) n.952G>C | |
15 | g.43252843C>T | CA392099289 | TGM5 | c.778G>A (p.Ala260Thr) n.247G>A c.532G>A (p.Ala178Thr) c.775G>A (p.Ala259Thr) c.529G>A (p.Ala177Thr) c.781G>A (p.Ala261Thr) n.952G>A | |
15 | g.43252844del | CA2173102642 | TGM5 | c.778del (p.Ala260ProfsTer3) n.247del c.532del (p.Ala178ProfsTer3) c.775del (p.Ala259ProfsTer3) c.529del (p.Ala177ProfsTer3) c.781del (p.Ala261ProfsTer3) n.952del | dbSNP |
15 | g.43252844C>A | CA490131479 | TGM5 | c.777G>T (p.Val259=) n.246G>T c.531G>T (p.Val177=) c.774G>T (p.Val258=) c.528G>T (p.Val176=) c.780G>T (p.Val260=) n.951G>T | |
15 | g.43252844C>G | CA490131480 | TGM5 | c.777G>C (p.Val259=) n.246G>C c.531G>C (p.Val177=) c.774G>C (p.Val258=) c.528G>C (p.Val176=) c.780G>C (p.Val260=) n.951G>C | |
15 | g.43252844C>T | CA490131481 | TGM5 | c.777G>A (p.Val259=) n.246G>A c.531G>A (p.Val177=) c.774G>A (p.Val258=) c.528G>A (p.Val176=) c.780G>A (p.Val260=) n.951G>A | |
15 | g.43252845A= | CA2173102643 | TGM5 | c.776T= (p.Val259=) n.245T= c.530T= (p.Val177=) c.773T= (p.Val258=) c.527T= (p.Val176=) c.779T= (p.Val260=) n.950T= | |
15 | g.43252845A>C | CA392099298 | TGM5 | c.776T>G (p.Val259Gly) n.245T>G c.530T>G (p.Val177Gly) c.773T>G (p.Val258Gly) c.527T>G (p.Val176Gly) c.779T>G (p.Val260Gly) n.950T>G | |
15 | g.43252845A>G | CA269975292 | TGM5 | c.776T>C (p.Val259Ala) n.245T>C c.530T>C (p.Val177Ala) c.773T>C (p.Val258Ala) c.527T>C (p.Val176Ala) c.779T>C (p.Val260Ala) n.950T>C | dbSNP gnomAD v2 gnomAD v4 |
15 | g.43252845A>T | CA392099293 | TGM5 | c.776T>A (p.Val259Glu) n.245T>A c.530T>A (p.Val177Glu) c.773T>A (p.Val258Glu) c.527T>A (p.Val176Glu) c.779T>A (p.Val260Glu) n.950T>A | |
15 | g.43252846C>A | CA392099309 | TGM5 | c.775G>T (p.Val259Leu) n.244G>T c.529G>T (p.Val177Leu) c.772G>T (p.Val258Leu) c.526G>T (p.Val176Leu) c.778G>T (p.Val260Leu) n.949G>T | |
15 | g.43252846C= | CA2173102644 | TGM5 | c.775G= (p.Val259=) n.244G= c.529G= (p.Val177=) c.772G= (p.Val258=) c.526G= (p.Val176=) c.778G= (p.Val260=) n.949G= | |
15 | g.43252846C>G | CA392099303 | TGM5 | c.775G>C (p.Val259Leu) n.244G>C c.529G>C (p.Val177Leu) c.772G>C (p.Val258Leu) c.526G>C (p.Val176Leu) c.778G>C (p.Val260Leu) n.949G>C | COSMIC |
15 | g.43252846C>T | CA7521209 | TGM5 | c.775G>A (p.Val259Met) n.244G>A c.529G>A (p.Val177Met) c.772G>A (p.Val258Met) c.526G>A (p.Val176Met) c.778G>A (p.Val260Met) n.949G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43252847G>A | CA7521210 | TGM5 | c.774C>T (p.Ser258=) n.243C>T c.528C>T (p.Ser176=) c.771C>T (p.Ser257=) c.525C>T (p.Ser175=) c.777C>T (p.Ser259=) n.948C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.43252847G>C | CA392099314 | TGM5 | c.774C>G (p.Ser258Arg) n.243C>G c.528C>G (p.Ser176Arg) c.771C>G (p.Ser257Arg) c.525C>G (p.Ser175Arg) c.777C>G (p.Ser259Arg) n.948C>G | ClinVar |
15 | g.43252847G= | CA2173102645 | TGM5 | c.774C= (p.Ser258=) n.243C= c.528C= (p.Ser176=) c.771C= (p.Ser257=) c.525C= (p.Ser175=) c.777C= (p.Ser259=) n.948C= | |
15 | g.43252847G>T | CA392099317 | TGM5 | c.774C>A (p.Ser258Arg) n.243C>A c.528C>A (p.Ser176Arg) c.771C>A (p.Ser257Arg) c.525C>A (p.Ser175Arg) c.777C>A (p.Ser259Arg) n.948C>A | |
15 | g.43252848del | CA2695220044 | TGM5 | c.773del (p.Ser258ThrfsTer5) n.242del c.527del (p.Ser176ThrfsTer5) c.770del (p.Ser257ThrfsTer5) c.524del (p.Ser175ThrfsTer5) c.776del (p.Ser259ThrfsTer5) n.947del | |
15 | g.43252848C>A | CA392099328 | TGM5 | c.773G>T (p.Ser258Ile) n.242G>T c.527G>T (p.Ser176Ile) c.770G>T (p.Ser257Ile) c.524G>T (p.Ser175Ile) c.776G>T (p.Ser259Ile) n.947G>T | |
15 | g.43252848C>G | CA392099325 | TGM5 | c.773G>C (p.Ser258Thr) n.242G>C c.527G>C (p.Ser176Thr) c.770G>C (p.Ser257Thr) c.524G>C (p.Ser175Thr) c.776G>C (p.Ser259Thr) n.947G>C | |
15 | g.43252848C>T | CA392099322 | TGM5 | c.773G>A (p.Ser258Asn) n.242G>A c.527G>A (p.Ser176Asn) c.770G>A (p.Ser257Asn) c.524G>A (p.Ser175Asn) c.776G>A (p.Ser259Asn) n.947G>A | |
15 | g.43252849T>A | CA392099333 | TGM5 | c.772A>T (p.Ser258Cys) n.241A>T c.526A>T (p.Ser176Cys) c.769A>T (p.Ser257Cys) c.523A>T (p.Ser175Cys) c.775A>T (p.Ser259Cys) n.946A>T | |
15 | g.43252849T>C | CA392099335 | TGM5 | c.772A>G (p.Ser258Gly) n.241A>G c.526A>G (p.Ser176Gly) c.769A>G (p.Ser257Gly) c.523A>G (p.Ser175Gly) c.775A>G (p.Ser259Gly) n.946A>G | |
15 | g.43252849T>G | CA392099338 | TGM5 | c.772A>C (p.Ser258Arg) n.241A>C c.526A>C (p.Ser176Arg) c.769A>C (p.Ser257Arg) c.523A>C (p.Ser175Arg) c.775A>C (p.Ser259Arg) n.946A>C | |
15 | g.43252850G>A | CA490131482 | TGM5 | c.771C>T (p.Gly257=) n.240C>T c.525C>T (p.Gly175=) c.768C>T (p.Gly256=) c.522C>T (p.Gly174=) c.774C>T (p.Gly258=) n.945C>T | |
15 | g.43252850G>C | CA490131483 | TGM5 | c.771C>G (p.Gly257=) n.240C>G c.525C>G (p.Gly175=) c.768C>G (p.Gly256=) c.522C>G (p.Gly174=) c.774C>G (p.Gly258=) n.945C>G | |
15 | g.43252850G>T | CA490131484 | TGM5 | c.771C>A (p.Gly257=) n.240C>A c.525C>A (p.Gly175=) c.768C>A (p.Gly256=) c.522C>A (p.Gly174=) c.774C>A (p.Gly258=) n.945C>A | |
15 | g.43252850_43252851delinsGC | CA2173102646 | TGM5 | c.770_771delinsGC (p.Gly257=) n.239_240delinsGC c.524_525delinsGC (p.Gly175=) c.767_768delinsGC (p.Gly256=) c.521_522delinsGC (p.Gly174=) c.773_774delinsGC (p.Gly258=) n.944_945delinsGC | |
15 | g.43252851C>A | CA392099342 | TGM5 | c.770G>T (p.Gly257Val) n.239G>T c.524G>T (p.Gly175Val) c.767G>T (p.Gly256Val) c.521G>T (p.Gly174Val) c.773G>T (p.Gly258Val) n.944G>T | |
15 | g.43252851C>G | CA392099346 | TGM5 | c.770G>C (p.Gly257Ala) n.239G>C c.524G>C (p.Gly175Ala) c.767G>C (p.Gly256Ala) c.521G>C (p.Gly174Ala) c.773G>C (p.Gly258Ala) n.944G>C | |
15 | g.43252851C>T | CA392099349 | TGM5 | c.770G>A (p.Gly257Asp) n.239G>A c.524G>A (p.Gly175Asp) c.767G>A (p.Gly256Asp) c.521G>A (p.Gly174Asp) c.773G>A (p.Gly258Asp) n.944G>A | |
15 | g.43252853del | CA2173102647 | TGM5 | c.770del (p.Gly257AlafsTer6) n.239del c.524del (p.Gly175AlafsTer6) c.767del (p.Gly256AlafsTer6) c.521del (p.Gly174AlafsTer6) c.773del (p.Gly258AlafsTer6) n.944del | dbSNP gnomAD v4 |
15 | g.43252852C>A | CA392099360 | TGM5 | c.769G>T (p.Gly257Cys) n.238G>T c.523G>T (p.Gly175Cys) c.766G>T (p.Gly256Cys) c.520G>T (p.Gly174Cys) c.772G>T (p.Gly258Cys) n.943G>T | |
15 | g.43252852C>G | CA392099354 | TGM5 | c.769G>C (p.Gly257Arg) n.238G>C c.523G>C (p.Gly175Arg) c.766G>C (p.Gly256Arg) c.520G>C (p.Gly174Arg) c.772G>C (p.Gly258Arg) n.943G>C | |
15 | g.43252852C>T | CA392099357 | TGM5 | c.769G>A (p.Gly257Ser) n.238G>A c.523G>A (p.Gly175Ser) c.766G>A (p.Gly256Ser) c.520G>A (p.Gly174Ser) c.772G>A (p.Gly258Ser) n.943G>A | gnomAD v4 |
15 | g.43252853C>A | CA490131485 | TGM5 | c.768G>T (p.Thr256=) n.237G>T c.522G>T (p.Thr174=) c.765G>T (p.Thr255=) c.519G>T (p.Thr173=) c.771G>T (p.Thr257=) n.942G>T | |
15 | g.43252853C= | CA2173102648 | TGM5 | c.768G= (p.Thr256=) n.237G= c.522G= (p.Thr174=) c.765G= (p.Thr255=) c.519G= (p.Thr173=) c.771G= (p.Thr257=) n.942G= | |
15 | g.43252853C>G | CA490131486 | TGM5 | c.768G>C (p.Thr256=) n.237G>C c.522G>C (p.Thr174=) c.765G>C (p.Thr255=) c.519G>C (p.Thr173=) c.771G>C (p.Thr257=) n.942G>C | |
15 | g.43252853C>T | CA7521211 | TGM5 | c.768G>A (p.Thr256=) n.237G>A c.522G>A (p.Thr174=) c.765G>A (p.Thr255=) c.519G>A (p.Thr173=) c.771G>A (p.Thr257=) n.942G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43252854G>A | CA7521212 | TGM5 | c.767C>T (p.Thr256Met) n.236C>T c.521C>T (p.Thr174Met) c.764C>T (p.Thr255Met) c.518C>T (p.Thr173Met) c.770C>T (p.Thr257Met) n.941C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.43252854G>C | CA392099368 | TGM5 | c.767C>G (p.Thr256Arg) n.236C>G c.521C>G (p.Thr174Arg) c.764C>G (p.Thr255Arg) c.518C>G (p.Thr173Arg) c.770C>G (p.Thr257Arg) n.941C>G | |
15 | g.43252854G= | CA2173102649 | TGM5 | c.767C= (p.Thr256=) n.236C= c.521C= (p.Thr174=) c.764C= (p.Thr255=) c.518C= (p.Thr173=) c.770C= (p.Thr257=) n.941C= | |
15 | g.43252854G>T | CA392099371 | TGM5 | c.767C>A (p.Thr256Lys) n.236C>A c.521C>A (p.Thr174Lys) c.764C>A (p.Thr255Lys) c.518C>A (p.Thr173Lys) c.770C>A (p.Thr257Lys) n.941C>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.43252855T>A | CA392099375 | TGM5 | c.766A>T (p.Thr256Ser) n.235A>T c.520A>T (p.Thr174Ser) c.763A>T (p.Thr255Ser) c.517A>T (p.Thr173Ser) c.769A>T (p.Thr257Ser) n.940A>T | |
15 | g.43252855T>C | CA7521213 | TGM5 | c.766A>G (p.Thr256Ala) n.235A>G c.520A>G (p.Thr174Ala) c.763A>G (p.Thr255Ala) c.517A>G (p.Thr173Ala) c.769A>G (p.Thr257Ala) n.940A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.43252855T>G | CA392099379 | TGM5 | c.766A>C (p.Thr256Pro) n.235A>C c.520A>C (p.Thr174Pro) c.763A>C (p.Thr255Pro) c.517A>C (p.Thr173Pro) c.769A>C (p.Thr257Pro) n.940A>C | |
15 | g.43252855T= | CA2173102650 | TGM5 | c.766A= (p.Thr256=) n.235A= c.520A= (p.Thr174=) c.763A= (p.Thr255=) c.517A= (p.Thr173=) c.769A= (p.Thr257=) n.940A= | |
15 | g.43252856C>A | CA392099382 | TGM5 | c.765G>T (p.Trp255Cys) n.234G>T c.519G>T (p.Trp173Cys) c.762G>T (p.Trp254Cys) c.516G>T (p.Trp172Cys) c.768G>T (p.Trp256Cys) n.939G>T | |
15 | g.43252856C>G | CA392099386 | TGM5 | c.765G>C (p.Trp255Cys) n.234G>C c.519G>C (p.Trp173Cys) c.762G>C (p.Trp254Cys) c.516G>C (p.Trp172Cys) c.768G>C (p.Trp256Cys) n.939G>C | gnomAD v4 |
15 | g.43252856C>T | CA392099389 | TGM5 | c.765G>A (p.Trp255Ter) n.234G>A c.519G>A (p.Trp173Ter) c.762G>A (p.Trp254Ter) c.516G>A (p.Trp172Ter) c.768G>A (p.Trp256Ter) n.939G>A | |
15 | g.43252857C>A | CA392099394 | TGM5 | c.764G>T (p.Trp255Leu) n.233G>T c.518G>T (p.Trp173Leu) c.761G>T (p.Trp254Leu) c.515G>T (p.Trp172Leu) c.767G>T (p.Trp256Leu) n.938G>T | |
15 | g.43252857C= | CA2173102651 | TGM5 | c.764G= (p.Trp255=) n.233G= c.518G= (p.Trp173=) c.761G= (p.Trp254=) c.515G= (p.Trp172=) c.767G= (p.Trp256=) n.938G= | |
15 | g.43252857C>G | CA392099397 | TGM5 | c.764G>C (p.Trp255Ser) n.233G>C c.518G>C (p.Trp173Ser) c.761G>C (p.Trp254Ser) c.515G>C (p.Trp172Ser) c.767G>C (p.Trp256Ser) n.938G>C | |
15 | g.43252857C>T | CA7521214 | TGM5 | c.764G>A (p.Trp255Ter) n.233G>A c.518G>A (p.Trp173Ter) c.761G>A (p.Trp254Ter) c.515G>A (p.Trp172Ter) c.767G>A (p.Trp256Ter) n.938G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43252858A= | CA2173102652 | TGM5 | c.763T= (p.Trp255=) n.232T= c.517T= (p.Trp173=) c.760T= (p.Trp254=) c.514T= (p.Trp172=) c.766T= (p.Trp256=) n.937T= | |
15 | g.43252858A>C | CA392099409 | TGM5 | c.763T>G (p.Trp255Gly) n.232T>G c.517T>G (p.Trp173Gly) c.760T>G (p.Trp254Gly) c.514T>G (p.Trp172Gly) c.766T>G (p.Trp256Gly) n.937T>G | |
15 | g.43252858A>G | CA170978 | TGM5 | c.763T>C (p.Trp255Arg) n.232T>C c.517T>C (p.Trp173Arg) c.760T>C (p.Trp254Arg) c.514T>C (p.Trp172Arg) c.766T>C (p.Trp256Arg) n.937T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43252858A>T | CA392099406 | TGM5 | c.763T>A (p.Trp255Arg) n.232T>A c.517T>A (p.Trp173Arg) c.760T>A (p.Trp254Arg) c.514T>A (p.Trp172Arg) c.766T>A (p.Trp256Arg) n.937T>A | |
15 | g.43252859C>A | CA392099413 | TGM5 | c.762G>T (p.Glu254Asp) n.231G>T c.516G>T (p.Glu172Asp) c.759G>T (p.Glu253Asp) c.513G>T (p.Glu171Asp) c.765G>T (p.Glu255Asp) n.936G>T | |
15 | g.43252859C= | CA2173102653 | TGM5 | c.762G= (p.Glu254=) n.231G= c.516G= (p.Glu172=) c.759G= (p.Glu253=) c.513G= (p.Glu171=) c.765G= (p.Glu255=) n.936G= | |
15 | g.43252859C>G | CA392099415 | TGM5 | c.762G>C (p.Glu254Asp) n.231G>C c.516G>C (p.Glu172Asp) c.759G>C (p.Glu253Asp) c.513G>C (p.Glu171Asp) c.765G>C (p.Glu255Asp) n.936G>C | |
15 | g.43252859C>T | CA7521215 | TGM5 | c.762G>A (p.Glu254=) n.231G>A c.516G>A (p.Glu172=) c.759G>A (p.Glu253=) c.513G>A (p.Glu171=) c.765G>A (p.Glu255=) n.936G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.43252860T>A | CA392099421 | TGM5 | c.761A>T (p.Glu254Val) n.230A>T c.515A>T (p.Glu172Val) c.758A>T (p.Glu253Val) c.512A>T (p.Glu171Val) c.764A>T (p.Glu255Val) n.935A>T | |
15 | g.43252860T>C | CA392099424 | TGM5 | c.761A>G (p.Glu254Gly) n.230A>G c.515A>G (p.Glu172Gly) c.758A>G (p.Glu253Gly) c.512A>G (p.Glu171Gly) c.764A>G (p.Glu255Gly) n.935A>G | |
15 | g.43252860T>G | CA392099427 | TGM5 | c.761A>C (p.Glu254Ala) n.230A>C c.515A>C (p.Glu172Ala) c.758A>C (p.Glu253Ala) c.512A>C (p.Glu171Ala) c.764A>C (p.Glu255Ala) n.935A>C |